#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_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	i_amino_acid_change	i_annotation_transcript	i_build	i_c_position	i_ccds_id	i_chromosome_name	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	i_deletion_substructures	i_domain	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	i_gene_name_source	i_gene_type	i_havana_transcript	i_reference	i_refseq_mrna_id	i_secondary_variant_classification	i_stop	i_strand	i_transcript_error	i_transcript_name	i_transcript_source	i_transcript_species	i_transcript_status	i_transcript_version	i_trv_type	i_type	i_ucsc_cons	i_variant
ABCA9	10350	genome.wustl.edu	37	17	67023208	67023208	+	Missense_Mutation	SNP	C	C	A			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr17:67023208C>A	ENST00000340001.4	-	15	2170	c.1959G>T	c.(1957-1959)agG>agT	p.R653S	ABCA9_ENST00000370732.2_Missense_Mutation_p.R653S|ABCA9_ENST00000453985.2_Missense_Mutation_p.R653S	NM_080283.3	NP_525022.2	Q8IUA7	ABCA9_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 9	653	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			NS(2)|breast(4)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(21)|lung(35)|ovary(4)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	91	Breast(10;1.47e-12)					ATATTCGGTGCCTTGAAAGAG	0.438																																																	0													80.0	80.0	80.0					17																	67023208		2203	4300	6503	SO:0001583	missense	10350			AF423307	CCDS11681.1	17q24	2012-03-14			ENSG00000154258	ENSG00000154258		"""ATP binding cassette transporters / subfamily A"""	39	protein-coding gene	gene with protein product		612507					Standard	XM_005256934		Approved	EST640918	uc002jhu.3	Q8IUA7	OTTHUMG00000140371	ENST00000340001.4:c.1959G>T	17.37:g.67023208C>A	ENSP00000342216:p.Arg653Ser	Somatic		WXS	Illumina HiSeq	Phase_IV	Q6P655|Q8N2S4|Q8WWZ5|Q96MD8	Missense_Mutation	SNP	pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.R653S	ENST00000340001.4	37	c.1959	CCDS11681.1	17	.	.	.	.	.	.	.	.	.	.	C	12.55	1.972624	0.34848	.	.	ENSG00000154258	ENST00000340001;ENST00000453985;ENST00000370732;ENST00000453749	T;T	0.41065	1.01;1.01	5.31	-0.424	0.12321	ATPase, AAA+ type, core (1);ABC transporter-like (1);	0.000000	0.53938	D	0.000055	T	0.52741	0.1753	L	0.60904	1.88	0.46356	D	0.999007	D;D	0.76494	0.999;0.993	D;D	0.68353	0.954;0.957	T	0.52358	-0.8586	10	0.87932	D	0	.	9.1717	0.37086	0.0:0.5911:0.0:0.4089	.	653;653	Q8IUA7-3;Q8IUA7	.;ABCA9_HUMAN	S	653;636;653;648	ENSP00000342216:R653S;ENSP00000359767:R653S	ENSP00000342216:R653S	R	-	3	2	ABCA9	64534803	0.769000	0.28531	0.101000	0.21167	0.006000	0.05464	-0.059000	0.11731	0.020000	0.15106	-0.225000	0.12378	AGG	ABCA9	-	smart_AAA+_ATPase,pfscan_ABC_transporter-like		0.438	ABCA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCA9	HGNC	protein_coding	OTTHUMT00000277072.2	C	NM_172386		67023208	-1	no_errors	ENST00000340001	ensembl	human	known	70_37	missense	SNP	0.972	A
ABCA9	10350	genome.wustl.edu	37	17	67039792	67039792	+	Nonsense_Mutation	SNP	A	A	T			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr17:67039792A>T	ENST00000340001.4	-	6	849	c.638T>A	c.(637-639)tTa>tAa	p.L213*	ABCA9_ENST00000495634.1_Nonsense_Mutation_p.L213*|ABCA9_ENST00000370732.2_Nonsense_Mutation_p.L213*|ABCA9_ENST00000453985.2_Nonsense_Mutation_p.L213*	NM_080283.3	NP_525022.2	Q8IUA7	ABCA9_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 9	213					transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			NS(2)|breast(4)|central_nervous_system(3)|endometrium(8)|kidney(3)|large_intestine(21)|lung(35)|ovary(4)|prostate(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	91	Breast(10;1.47e-12)					AACAAAAGGTAATATCTTCAT	0.318																																																	0													91.0	91.0	91.0					17																	67039792		2203	4300	6503	SO:0001587	stop_gained	10350			AF423307	CCDS11681.1	17q24	2012-03-14			ENSG00000154258	ENSG00000154258		"""ATP binding cassette transporters / subfamily A"""	39	protein-coding gene	gene with protein product		612507					Standard	XM_005256934		Approved	EST640918	uc002jhu.3	Q8IUA7	OTTHUMG00000140371	ENST00000340001.4:c.638T>A	17.37:g.67039792A>T	ENSP00000342216:p.Leu213*	Somatic		WXS	Illumina HiSeq	Phase_IV	Q6P655|Q8N2S4|Q8WWZ5|Q96MD8	Nonsense_Mutation	SNP	pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.L213*	ENST00000340001.4	37	c.638	CCDS11681.1	17	.	.	.	.	.	.	.	.	.	.	A	19.58	3.854580	0.71719	.	.	ENSG00000154258	ENST00000340001;ENST00000453985;ENST00000370732;ENST00000453749	.	.	.	4.73	-0.339	0.12647	.	0.789213	0.10292	N	0.692219	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.10377	T	0.69	.	2.7694	0.05329	0.3973:0.0:0.2779:0.3247	.	.	.	.	X	213;196;213;208	.	ENSP00000342216:L213X	L	-	2	0	ABCA9	64551387	0.000000	0.05858	0.004000	0.12327	0.644000	0.38419	-0.076000	0.11412	0.080000	0.16959	0.491000	0.48974	TTA	ABCA9	-	NULL		0.318	ABCA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCA9	HGNC	protein_coding	OTTHUMT00000277072.2	A	NM_172386		67039792	-1	no_errors	ENST00000340001	ensembl	human	known	70_37	nonsense	SNP	0.000	T
ABCA5	23461	genome.wustl.edu	37	17	67309320	67309320	+	Missense_Mutation	SNP	G	G	C			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr17:67309320G>C	ENST00000392676.3	-	3	284	c.220C>G	c.(220-222)Ctt>Gtt	p.L74V	ABCA5_ENST00000392677.2_Missense_Mutation_p.L74V|ABCA5_ENST00000588877.1_Missense_Mutation_p.L74V			Q8WWZ7	ABCA5_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 5	74					cholesterol efflux (GO:0033344)|high-density lipoprotein particle remodeling (GO:0034375)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|reverse cholesterol transport (GO:0043691)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|lysosome (GO:0005764)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(18)|lung(19)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	54	Breast(10;3.72e-11)				Tacrolimus(DB00864)	AGATTAGAAAGAGTAAACTTG	0.313																																																	0													87.0	92.0	90.0					17																	67309320		2203	4296	6499	SO:0001583	missense	23461			U66672	CCDS11685.1	17q24.3	2012-03-14			ENSG00000154265	ENSG00000154265		"""ATP binding cassette transporters / subfamily A"""	35	protein-coding gene	gene with protein product		612503				8894702	Standard	NM_172232		Approved	EST90625	uc002jig.2	Q8WWZ7		ENST00000392676.3:c.220C>G	17.37:g.67309320G>C	ENSP00000376443:p.Leu74Val	Somatic		WXS	Illumina HiSeq	Phase_IV	Q8IVJ2|Q96LJ1|Q96MS4|Q96PZ9|Q9NY14	Missense_Mutation	SNP	pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.L74V	ENST00000392676.3	37	c.220	CCDS11685.1	17	.	.	.	.	.	.	.	.	.	.	G	0.856	-0.736820	0.03111	.	.	ENSG00000154265	ENST00000392677;ENST00000392676	T;T	0.46451	0.87;0.87	5.0	2.95	0.34219	.	0.231598	0.30492	N	0.009519	T	0.32763	0.0840	L	0.54323	1.7	0.09310	N	1	B;B	0.29378	0.102;0.243	B;B	0.30572	0.044;0.117	T	0.15464	-1.0436	9	.	.	.	.	4.621	0.12449	0.1598:0.0:0.5213:0.3189	.	74;74	Q8WWZ7-2;Q8WWZ7	.;ABCA5_HUMAN	V	74	ENSP00000376444:L74V;ENSP00000376443:L74V	.	L	-	1	0	ABCA5	64820915	0.763000	0.28462	0.015000	0.15790	0.065000	0.16274	1.270000	0.33086	1.049000	0.40321	0.585000	0.79938	CTT	ABCA5	-	NULL		0.313	ABCA5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ABCA5	HGNC	protein_coding	OTTHUMT00000450654.1	G	NM_018672		67309320	-1	no_errors	ENST00000392677	ensembl	human	known	70_37	missense	SNP	0.008	C
ABCB1	5243	genome.wustl.edu	37	7	87179273	87179273	+	Missense_Mutation	SNP	G	G	A			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr7:87179273G>A	ENST00000265724.3	-	14	1865	c.1448C>T	c.(1447-1449)aCg>aTg	p.T483M	ABCB1_ENST00000543898.1_Missense_Mutation_p.T419M	NM_000927.4	NP_000918.2	P08183	MDR1_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 1	483	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				drug transmembrane transport (GO:0006855)|G2/M transition of mitotic cell cycle (GO:0000086)|response to drug (GO:0042493)|small molecule metabolic process (GO:0044281)|stem cell proliferation (GO:0072089)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|transporter activity (GO:0005215)|xenobiotic-transporting ATPase activity (GO:0008559)			NS(1)|breast(6)|central_nervous_system(2)|endometrium(14)|kidney(9)|large_intestine(14)|lung(48)|ovary(4)|prostate(6)|skin(6)|upper_aerodigestive_tract(1)	111	Esophageal squamous(14;0.00164)				Acebutolol(DB01193)|Acetaminophen(DB00316)|Acetylsalicylic acid(DB00945)|Adenosine triphosphate(DB00171)|ado-trastuzumab emtansine(DB05773)|Afatinib(DB08916)|Albendazole(DB00518)|Alfentanil(DB00802)|Alitretinoin(DB00523)|Amantadine(DB00915)|Aminohippurate(DB00345)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Amprenavir(DB00701)|Amsacrine(DB00276)|Apixaban(DB06605)|Arsenic trioxide(DB01169)|Astemizole(DB00637)|Atazanavir(DB01072)|Atenolol(DB00335)|Atorvastatin(DB01076)|Axitinib(DB06626)|Azelastine(DB00972)|Azithromycin(DB00207)|Benzocaine(DB01086)|Bepridil(DB01244)|Betamethasone(DB00443)|Biperiden(DB00810)|Boceprevir(DB08873)|Bosutinib(DB06616)|Brentuximab vedotin(DB08870)|Bromocriptine(DB01200)|Buprenorphine(DB00921)|Buspirone(DB00490)|Cabazitaxel(DB06772)|Caffeine(DB00201)|Canagliflozin(DB08907)|Candesartan(DB00796)|Captopril(DB01197)|Carbamazepine(DB00564)|Carfilzomib(DB08889)|Carvedilol(DB01136)|Caspofungin(DB00520)|Chloroquine(DB00608)|Chlorpromazine(DB00477)|Chlorpropamide(DB00672)|Chlorprothixene(DB01239)|Cilazapril(DB01340)|Cimetidine(DB00501)|Ciprofloxacin(DB00537)|Cisplatin(DB00515)|Citalopram(DB00215)|Clarithromycin(DB01211)|Clobazam(DB00349)|Clofazimine(DB00845)|Clomifene(DB00882)|Clomipramine(DB01242)|Clonidine(DB00575)|Clopidogrel(DB00758)|Clotrimazole(DB00257)|Clozapine(DB00363)|Colchicine(DB01394)|Conjugated Estrogens(DB00286)|Crizotinib(DB08865)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dabigatran etexilate(DB06695)|Dabrafenib(DB08912)|Dactinomycin(DB00970)|Dapagliflozin(DB06292)|Dasatinib(DB01254)|Daunorubicin(DB00694)|Debrisoquin(DB04840)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexamethasone(DB01234)|Dextromethorphan(DB00514)|Diazepam(DB00829)|Diclofenac(DB00586)|Diethylstilbestrol(DB00255)|Digitoxin(DB01396)|Digoxin(DB00390)|Dihydroergotamine(DB00320)|Diltiazem(DB00343)|Dipyridamole(DB00975)|Docetaxel(DB01248)|Domperidone(DB01184)|Doxazosin(DB00590)|Doxepin(DB01142)|Doxorubicin(DB00997)|Dronabinol(DB00470)|Dronedarone(DB04855)|Eletriptan(DB00216)|Enalapril(DB00584)|Enzalutamide(DB08899)|Epinastine(DB00751)|Ergonovine(DB01253)|Ergotamine(DB00696)|Erlotinib(DB00530)|Erythromycin(DB00199)|Estradiol(DB00783)|Estramustine(DB01196)|Estriol(DB04573)|Estrone(DB00655)|Ethinyl Estradiol(DB00977)|Etoposide(DB00773)|Etravirine(DB06414)|Ezetimibe(DB00973)|Felodipine(DB01023)|Fentanyl(DB00813)|Fesoterodine(DB06702)|Fexofenadine(DB00950)|Fidaxomicin(DB08874)|Fluconazole(DB00196)|Fluoxetine(DB00472)|Flupentixol(DB00875)|Fluphenazine(DB00623)|Flurazepam(DB00690)|Fluticasone furoate(DB08906)|Fluvoxamine(DB00176)|Gefitinib(DB00317)|Gemcitabine(DB00441)|Glyburide(DB01016)|Gramicidin D(DB00027)|Haloperidol(DB00502)|Hydrocortisone(DB00741)|Ibuprofen(DB01050)|Imatinib(DB00619)|Imipramine(DB00458)|Indacaterol(DB05039)|Indinavir(DB00224)|Indomethacin(DB00328)|Irinotecan(DB00762)|Itraconazole(DB01167)|Ivacaftor(DB08820)|Ivermectin(DB00602)|Ketamine(DB01221)|Ketazolam(DB01587)|Ketoconazole(DB01026)|Lamivudine(DB00709)|Lamotrigine(DB00555)|Lansoprazole(DB00448)|Lapatinib(DB01259)|Lenalidomide(DB00480)|Levetiracetam(DB01202)|Levofloxacin(DB01137)|Levomilnacipran(DB08918)|Levothyroxine(DB00451)|Lidocaine(DB00281)|Linagliptin(DB08882)|Liothyronine(DB00279)|Liotrix(DB01583)|Lisinopril(DB00722)|Lomitapide(DB08827)|Loperamide(DB00836)|Lopinavir(DB01601)|Loratadine(DB00455)|Losartan(DB00678)|Lovastatin(DB00227)|Mannitol(DB00742)|Maprotiline(DB00934)|Mebendazole(DB00643)|Mefloquine(DB00358)|Megestrol acetate(DB00351)|Meprobamate(DB00371)|Methadone(DB00333)|Methotrexate(DB00563)|Methylprednisolone(DB00959)|Metoprolol(DB00264)|Miconazole(DB01110)|Midazolam(DB00683)|Mifepristone(DB00834)|Mirabegron(DB08893)|Mitomycin(DB00305)|Mitoxantrone(DB01204)|Morphine(DB00295)|Mycophenolate mofetil(DB00688)|Nadolol(DB01203)|Naloxone(DB01183)|Naltrexone(DB00704)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Neostigmine(DB01400)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilotinib(DB04868)|Nisoldipine(DB00401)|Nitrazepam(DB01595)|Nitrendipine(DB01054)|Nizatidine(DB00585)|Norethindrone(DB00717)|Olanzapine(DB00334)|Omeprazole(DB00338)|Paclitaxel(DB01229)|Pantoprazole(DB00213)|Paroxetine(DB00715)|Pazopanib(DB06589)|Perindopril(DB00790)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Pimozide(DB01100)|Pitavastatin(DB08860)|Pomalidomide(DB08910)|Ponatinib(DB08901)|Posaconazole(DB01263)|Pravastatin(DB00175)|Prazosin(DB00457)|Prednisolone(DB00860)|Prednisone(DB00635)|Probenecid(DB01032)|Progesterone(DB00396)|Promethazine(DB01069)|Propafenone(DB01182)|Propranolol(DB00571)|Protriptyline(DB00344)|Quetiapine(DB01224)|Quinacrine(DB01103)|Quinidine(DB00908)|Quinine(DB00468)|Ranitidine(DB00863)|Reboxetine(DB00234)|Regorafenib(DB08896)|Reserpine(DB00206)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Risperidone(DB00734)|Ritonavir(DB00503)|Rivaroxaban(DB06228)|Roxithromycin(DB00778)|Salicylic acid(DB00936)|Saquinavir(DB01232)|Scopolamine(DB00747)|Selegiline(DB01037)|Sertraline(DB01104)|Silodosin(DB06207)|SIMEPREVIR(DB06290)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sitagliptin(DB01261)|SOFOSBUVIR(DB08934)|Sorafenib(DB00398)|Sparfloxacin(DB01208)|Spironolactone(DB00421)|Streptozocin(DB00428)|Sulfinpyrazone(DB01138)|Sumatriptan(DB00669)|Sunitinib(DB01268)|Tacrolimus(DB00864)|Tamoxifen(DB00675)|Telaprevir(DB05521)|Telmisartan(DB00966)|Temsirolimus(DB06287)|Terazosin(DB01162)|Testosterone(DB00624)|Ticagrelor(DB08816)|Timolol(DB00373)|Tolvaptan(DB06212)|Topotecan(DB01030)|Toremifene(DB00539)|Trazodone(DB00656)|Trifluoperazine(DB00831)|Triflupromazine(DB00508)|Trimethoprim(DB00440)|Trimipramine(DB00726)|Troleandomycin(DB01361)|Vecuronium(DB01339)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vinblastine(DB00570)|Vincristine(DB00541)|Vinorelbine(DB00361)|Vismodegib(DB08828)|Voacamine(DB04877)|Zidovudine(DB00495)	TTCAGCTATCGTGGTGGCAAA	0.433																																																	0													216.0	197.0	203.0					7																	87179273		2203	4300	6503	SO:0001583	missense	5243			M14758	CCDS5608.1	7q21.12	2012-03-14	2004-05-12		ENSG00000085563	ENSG00000085563		"""CD molecules"", ""ATP binding cassette transporters / subfamily B"""	40	protein-coding gene	gene with protein product	"""multidrug resistance protein 1"""	171050	"""colchicin sensitivity"""	PGY1, MDR1, CLCS		3027054	Standard	NM_000927		Approved	P-gp, CD243, GP170, ABC20	uc003uiz.2	P08183	OTTHUMG00000023393	ENST00000265724.3:c.1448C>T	7.37:g.87179273G>A	ENSP00000265724:p.Thr483Met	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K294|B5AK60|Q12755|Q14812	Missense_Mutation	SNP	pfam_ABC_transptr_TM_dom,pfam_ABC_transporter-like,pfam_ABC_ATPase_put,superfamily_ABC_transptrTM_dom_typ1,smart_AAA+_ATPase,pfscan_ABC_transporter-like,pfscan_ABC_transporter_type1	p.T483M	ENST00000265724.3	37	c.1448	CCDS5608.1	7	.	.	.	.	.	.	.	.	.	.	G	23.9	4.475272	0.84640	.	.	ENSG00000085563	ENST00000543174;ENST00000265724;ENST00000543898	D;D	0.94046	-3.34;-3.34	6.16	6.16	0.99307	ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.047041	0.85682	D	0.000000	D	0.97763	0.9266	M	0.92970	3.365	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.985;0.999	D	0.97729	1.0201	10	0.87932	D	0	-23.7876	20.8598	0.99761	0.0:0.0:1.0:0.0	.	419;483	B5AK60;P08183	.;MDR1_HUMAN	M	264;483;419	ENSP00000265724:T483M;ENSP00000444095:T419M	ENSP00000265724:T483M	T	-	2	0	ABCB1	87017209	1.000000	0.71417	0.974000	0.42286	0.726000	0.41606	9.869000	0.99810	2.937000	0.99478	0.650000	0.86243	ACG	ABCB1	-	pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like		0.433	ABCB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCB1	HGNC	protein_coding	OTTHUMT00000335444.2	G	NM_000927		87179273	-1	no_errors	ENST00000265724	ensembl	human	known	70_37	missense	SNP	1.000	A
ABCC13	150000	genome.wustl.edu	37	21	15689804	15689804	+	RNA	SNP	T	T	C			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr21:15689804T>C	ENST00000482980.1	+	0	2660							Q9NSE7	ABCCD_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 13, pseudogene							integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)										ACTCATATTTTAGTGACACAC	0.333																																					Ovarian(111;916 1572 1777 20423 38208)												0																																												150000			AF418600		21q11.2	2012-03-14	2010-04-29		ENSG00000243064	ENSG00000243064		"""ATP binding cassette transporters / subfamily C"""	16022	pseudogene	pseudogene		608835	"""ATP-binding cassette, sub-family C (CFTR/MRP), member 13"""			10049586	Standard	NR_003087		Approved	PRED6, C21orf73	uc002yjr.3	Q9NSE7	OTTHUMG00000074257		21.37:g.15689804T>C		Somatic		WXS	Illumina HiSeq	Phase_IV	Q8N6A4|Q8N6A5	RNA	SNP	-	NULL	ENST00000482980.1	37	NULL		21																																																																																			ABCC13	-	-		0.333	ABCC13-004	KNOWN	non_canonical_polymorphism|basic	processed_transcript	ABCC13	HGNC	pseudogene	OTTHUMT00000157809.3	T			15689804	+1	no_errors	ENST00000482980	ensembl	human	known	70_37	rna	SNP	1.000	C
ABCD1	215	genome.wustl.edu	37	X	152994963	152994963	+	Intron	SNP	G	G	A			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chrX:152994963G>A	ENST00000218104.3	+	2	1480				ABCD1_ENST00000370129.4_Missense_Mutation_p.A208T	NM_000033.3	NP_000024.2	P33897	ABCD1_HUMAN	ATP-binding cassette, sub-family D (ALD), member 1						alpha-linolenic acid metabolic process (GO:0036109)|ATP catabolic process (GO:0006200)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|linoleic acid metabolic process (GO:0043651)|long-chain fatty acid catabolic process (GO:0042758)|peroxisomal long-chain fatty acid import (GO:0015910)|peroxisomal membrane transport (GO:0015919)|peroxisome organization (GO:0007031)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|unsaturated fatty acid metabolic process (GO:0033559)|very long-chain fatty acid catabolic process (GO:0042760)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|integral component of peroxisomal membrane (GO:0005779)|membrane (GO:0016020)|mitochondrion (GO:0005739)|perinuclear region of cytoplasm (GO:0048471)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|peroxisomal fatty-acyl-CoA transporter activity (GO:0005325)|protein homodimerization activity (GO:0042803)|transporter activity (GO:0005215)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|urinary_tract(2)	18	all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CCAGCCCGCCGCCCACTTCTG	0.672													G|||	2	0.000529801	0.0	0.0	3775	,	,		12389	0.0		0.0	False		,,,				2504	0.002																0																																										SO:0001627	intron_variant	215			Z21876	CCDS14728.1	Xq28	2012-03-14			ENSG00000101986	ENSG00000101986		"""ATP binding cassette transporters / subfamily D"""	61	protein-coding gene	gene with protein product		300371		ALD		8441467, 6795626	Standard	NM_000033		Approved	AMN, ALDP, adrenoleukodystrophy	uc004fif.2	P33897	OTTHUMG00000024215	ENST00000218104.3:c.1081+96G>A	X.37:g.152994963G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q6GTZ2	Missense_Mutation	SNP	pfam_ABC_Ald_N	p.A208T	ENST00000218104.3	37	c.622	CCDS14728.1	X	.	.	.	.	.	.	.	.	.	.	g	12.04	1.817273	0.32145	.	.	ENSG00000101986	ENST00000370129	D	0.99399	-5.83	3.32	-2.34	0.06704	.	.	.	.	.	D	0.97321	0.9124	.	.	.	0.09310	N	1	.	.	.	.	.	.	D	0.96495	0.9367	5	.	.	.	.	3.8441	0.08926	0.0:0.2668:0.4156:0.3177	.	.	.	.	T	208	ENSP00000359147:A208T	.	A	+	1	0	ABCD1	152648157	0.000000	0.05858	0.000000	0.03702	0.046000	0.14306	-0.352000	0.07701	-0.423000	0.07394	-0.913000	0.02753	GCC	ABCD1	-	NULL		0.672	ABCD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCD1	HGNC	protein_coding	OTTHUMT00000061041.1	G	NM_000033		152994963	+1	no_errors	ENST00000370129	ensembl	human	known	70_37	missense	SNP	0.000	A
ABCD3	5825	genome.wustl.edu	37	1	94984053	94984055	+	3'UTR	DEL	AAA	AAA	-	rs144257807	byFrequency	TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	AAA	AAA					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr1:94984053_94984055delAAA	ENST00000370214.4	+	0	3372_3374				ABCD3_ENST00000484213.1_3'UTR|ABCD3_ENST00000394233.2_3'UTR	NM_002858.3	NP_002849.1	P28288	ABCD3_HUMAN	ATP-binding cassette, sub-family D (ALD), member 3						ATP catabolic process (GO:0006200)|fatty acid beta-oxidation (GO:0006635)|peroxisome organization (GO:0007031)|transmembrane transport (GO:0055085)|very long-chain fatty acid catabolic process (GO:0042760)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|peroxisomal matrix (GO:0005782)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|protein homodimerization activity (GO:0042803)			breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|liver(2)|lung(10)|ovary(1)|pancreas(1)|skin(2)	26		all_lung(203;0.000434)|Lung NSC(277;0.0019)		all cancers(265;0.0261)|Epithelial(280;0.165)		TGTTCAGattaaaaaaaaaaaaa	0.286																																																	0																																										SO:0001624	3_prime_UTR_variant	5825			M81182	CCDS749.1, CCDS44175.1	1p21.3	2012-05-16			ENSG00000117528	ENSG00000117528		"""ATP binding cassette transporters / subfamily D"""	67	protein-coding gene	gene with protein product		170995		PXMP1		1301993, 8449508	Standard	NM_002858		Approved	PMP70, ZWS2	uc001dqn.4	P28288	OTTHUMG00000010717	ENST00000370214.4:c.*1370AAA>-	1.37:g.94984062_94984064delAAA		Somatic		WXS	Illumina HiSeq	Phase_IV	D3DT46|Q15271|Q6NUN5|Q96DA3|Q9H529	RNA	DEL	-	NULL	ENST00000370214.4	37	NULL	CCDS749.1	1																																																																																			ABCD3	-	-		0.286	ABCD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCD3	HGNC	protein_coding	OTTHUMT00000029597.1	AAA	NM_002858		94984055	+1	no_errors	ENST00000484213	ensembl	human	known	70_37	rna	DEL	0.959:0.972:0.991	-
AOC1	26	genome.wustl.edu	37	7	150558235	150558235	+	Missense_Mutation	SNP	G	G	C			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr7:150558235G>C	ENST00000493429.1	+	7	2778	c.2194G>C	c.(2194-2196)Gag>Cag	p.E732Q	AOC1_ENST00000416793.2_Missense_Mutation_p.E751Q|AOC1_ENST00000467291.1_Missense_Mutation_p.E732Q|AOC1_ENST00000480582.1_3'UTR|AOC1_ENST00000360937.4_Missense_Mutation_p.E732Q			P19801	AOC1_HUMAN	amine oxidase, copper containing 1	732					amine metabolic process (GO:0009308)|cellular response to azide (GO:0097185)|cellular response to copper ion (GO:0071280)|cellular response to copper ion starvation (GO:0035874)|cellular response to heparin (GO:0071504)|cellular response to histamine (GO:0071420)|oxidation-reduction process (GO:0055114)|response to antibiotic (GO:0046677)|response to drug (GO:0042493)|sodium ion transmembrane transport (GO:0035725)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|peroxisome (GO:0005777)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	calcium ion binding (GO:0005509)|cation channel activity (GO:0005261)|copper ion binding (GO:0005507)|diamine oxidase activity (GO:0052597)|drug binding (GO:0008144)|heparin binding (GO:0008201)|histamine oxidase activity (GO:0052598)|methylputrescine oxidase activity (GO:0052599)|primary amine oxidase activity (GO:0008131)|propane-1,3-diamine oxidase activity (GO:0052600)|protein complex binding (GO:0032403)|protein homodimerization activity (GO:0042803)|quinone binding (GO:0048038)|receptor activity (GO:0004872)|sodium channel activity (GO:0005272)|zinc ion binding (GO:0008270)									Amiloride(DB00594)	CTGGATCCCTGAGGACAGGGA	0.597																																																	0													52.0	59.0	57.0					7																	150558235		2032	4175	6207	SO:0001583	missense	26			AK092514	CCDS43679.1, CCDS64797.1	7q36.1	2013-06-19	2013-06-19	2013-06-19	ENSG00000002726	ENSG00000002726	1.4.3.22		80	protein-coding gene	gene with protein product	"""diamine oxidase"""	104610	"""amiloride binding protein 1 (amine oxidase (copper-containing))"""	ABP1		8182053	Standard	NM_001091		Approved	DAO	uc003wia.2	P19801	OTTHUMG00000158306	ENST00000493429.1:c.2194G>C	7.37:g.150558235G>C	ENSP00000418614:p.Glu732Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	C9J690|Q16683|Q16684|Q56II4|Q6GU42	Missense_Mutation	SNP	pfam_Cu_amine_oxidase_C,pfam_Cu_amine_oxidase_N2,pfam_Cu_amine_oxidase_N3,superfamily_Cu_amine_oxidase_C,superfamily_Cu_amine_oxidase_N-reg,prints_Cu_amine_oxidase	p.E751Q	ENST00000493429.1	37	c.2251	CCDS43679.1	7	.	.	.	.	.	.	.	.	.	.	G	13.43	2.234554	0.39498	.	.	ENSG00000002726	ENST00000493429;ENST00000467291;ENST00000360937;ENST00000416793;ENST00000437714	T;T;T;T	0.03689	3.84;3.84;3.84;3.84	4.84	3.96	0.45880	Copper amine oxidase, C-terminal (1);	0.935437	0.08922	N	0.874237	T	0.02119	0.0066	N	0.08118	0	0.37020	D	0.896131	P;B	0.47841	0.901;0.419	B;B	0.38616	0.277;0.041	T	0.57957	-0.7721	10	0.21014	T	0.42	-27.162	6.9028	0.24293	0.0957:0.1764:0.7278:0.0	.	751;732	C9J690;P19801	.;ABP1_HUMAN	Q	732;732;732;751;608	ENSP00000418614:E732Q;ENSP00000418328:E732Q;ENSP00000354193:E732Q;ENSP00000411613:E751Q	ENSP00000354193:E732Q	E	+	1	0	ABP1	150189168	0.995000	0.38212	0.975000	0.42487	0.898000	0.52572	2.928000	0.48908	1.038000	0.40049	0.305000	0.20034	GAG	ABP1	-	superfamily_Cu_amine_oxidase_C		0.597	AOC1-009	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ABP1	HGNC	protein_coding	OTTHUMT00000350628.1	G	NM_001091		150558235	+1	no_errors	ENST00000416793	ensembl	human	known	70_37	missense	SNP	0.996	C
ABCF2	10061	genome.wustl.edu	37	7	150920871	150920871	+	Missense_Mutation	SNP	C	C	G			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr7:150920871C>G	ENST00000287844.2	-	5	724	c.615G>C	c.(613-615)gaG>gaC	p.E205D	ABCF2_ENST00000473874.1_5'Flank|ABCF2_ENST00000222388.2_Missense_Mutation_p.E205D	NM_007189.1	NP_009120.1	Q9UG63	ABCF2_HUMAN	ATP-binding cassette, sub-family F (GCN20), member 2	205	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				transport (GO:0006810)	ATP-binding cassette (ABC) transporter complex (GO:0043190)|membrane (GO:0016020)|mitochondrial envelope (GO:0005740)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|transporter activity (GO:0005215)			breast(1)|central_nervous_system(1)|large_intestine(4)|lung(15)|ovary(1)|skin(2)	24			OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		AGGCCCTCATCTCTGCCTTGT	0.602																																																	0													44.0	37.0	39.0					7																	150920871		2203	4300	6503	SO:0001583	missense	10061			AJ005016	CCDS5922.1, CCDS5923.1	7q36.1	2012-03-14			ENSG00000033050	ENSG00000033050		"""ATP binding cassette transporters / subfamily F"""	71	protein-coding gene	gene with protein product		612510				8894702	Standard	NM_007189		Approved	EST133090, ABC28, M-ABC1, HUSSY-18	uc003wjo.1	Q9UG63	OTTHUMG00000154570	ENST00000287844.2:c.615G>C	7.37:g.150920871C>G	ENSP00000287844:p.Glu205Asp	Somatic		WXS	Illumina HiSeq	Phase_IV	O60864|Q75MJ0|Q75MJ1|Q96TE8	Missense_Mutation	SNP	pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.E205D	ENST00000287844.2	37	c.615	CCDS5923.1	7	.	.	.	.	.	.	.	.	.	.	C	22.0	4.235899	0.79800	.	.	ENSG00000033050	ENST00000222388;ENST00000287844;ENST00000468073;ENST00000441774	D;D;D;D	0.93488	-3.23;-3.23;-3.23;-3.23	5.7	3.91	0.45181	ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.160128	0.56097	D	0.000036	D	0.95211	0.8447	M	0.77486	2.375	0.54753	D	0.999985	D;D	0.53885	0.963;0.963	P;P	0.59825	0.864;0.864	D	0.94316	0.7549	10	0.72032	D	0.01	-6.6734	9.2547	0.37575	0.0:0.7567:0.0:0.2433	.	205;205	Q9UG63;Q75MJ1	ABCF2_HUMAN;.	D	205	ENSP00000222388:E205D;ENSP00000287844:E205D;ENSP00000419720:E205D;ENSP00000395785:E205D	ENSP00000222388:E205D	E	-	3	2	ABCF2	150551804	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	1.014000	0.29950	0.770000	0.33336	-0.218000	0.12543	GAG	ABCF2	-	pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like		0.602	ABCF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCF2	HGNC	protein_coding	OTTHUMT00000336086.1	C	NM_005692		150920871	-1	no_errors	ENST00000222388	ensembl	human	known	70_37	missense	SNP	1.000	G
ACCSL	390110	genome.wustl.edu	37	11	44077812	44077812	+	Silent	SNP	T	T	C			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr11:44077812T>C	ENST00000378832.1	+	11	1319	c.1263T>C	c.(1261-1263)ttT>ttC	p.F421F		NM_001031854.2	NP_001027025.2	Q4AC99	1A1L2_HUMAN	1-aminocyclopropane-1-carboxylate synthase homolog (Arabidopsis)(non-functional)-like	421					biosynthetic process (GO:0009058)		catalytic activity (GO:0003824)|pyridoxal phosphate binding (GO:0030170)			central_nervous_system(1)|endometrium(6)|large_intestine(5)|lung(14)|ovary(5)|pancreas(1)|skin(2)	34						TGAGTGCCTTTGGCTACCTCC	0.522																																																	0													115.0	106.0	109.0					11																	44077812		1994	4177	6171	SO:0001819	synonymous_variant	390110				CCDS41636.1	11p11.2	2008-11-26			ENSG00000205126	ENSG00000205126			34391	protein-coding gene	gene with protein product							Standard	NM_001031854		Approved		uc001mxw.1	Q4AC99	OTTHUMG00000166426	ENST00000378832.1:c.1263T>C	11.37:g.44077812T>C		Somatic		WXS	Illumina HiSeq	Phase_IV		Silent	SNP	pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase_major_dom	p.F421	ENST00000378832.1	37	c.1263	CCDS41636.1	11																																																																																			ACCSL	-	pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase_major_dom		0.522	ACCSL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACCSL	HGNC	protein_coding	OTTHUMT00000389717.1	T	NM_001031854		44077812	+1	no_errors	ENST00000378832	ensembl	human	known	70_37	silent	SNP	0.962	C
ACOX3	8310	genome.wustl.edu	37	4	8417621	8417621	+	Missense_Mutation	SNP	G	G	A			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr4:8417621G>A	ENST00000356406.5	-	3	327	c.250C>T	c.(250-252)Cgg>Tgg	p.R84W	ACOX3_ENST00000413009.2_Missense_Mutation_p.R84W|ACOX3_ENST00000503233.1_Missense_Mutation_p.R84W	NM_003501.2	NP_003492.2	O15254	ACOX3_HUMAN	acyl-CoA oxidase 3, pristanoyl	84					cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|small molecule metabolic process (GO:0044281)	membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	acyl-CoA dehydrogenase activity (GO:0003995)|flavin adenine dinucleotide binding (GO:0050660)|pristanoyl-CoA oxidase activity (GO:0016402)|receptor binding (GO:0005102)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(9)|lung(17)|prostate(1)|skin(3)|stomach(1)	42						TCGAAGATCCGCTTGCATCGA	0.517																																																	0													89.0	81.0	84.0					4																	8417621		2203	4300	6503	SO:0001583	missense	8310			Y11411	CCDS3401.1, CCDS47017.1	4p15.3	2010-04-30	2010-04-30		ENSG00000087008	ENSG00000087008	1.3.3.6		121	protein-coding gene	gene with protein product		603402	"""acyl-Coenzyme A oxidase 3, pristanoyl"""			9271077	Standard	NM_003501		Approved		uc003glc.4	O15254	OTTHUMG00000090509	ENST00000356406.5:c.250C>T	4.37:g.8417621G>A	ENSP00000348775:p.Arg84Trp	Somatic		WXS	Illumina HiSeq	Phase_IV	Q96AJ8	Missense_Mutation	SNP	pfam_Acyl-CoA_oxidase_C,pfam_Acyl-CoA_Oxase/DH_cen-dom,pfam_Acyl-CoA_Oxase/DH_1,superfamily_AcylCo_DH/oxidase_C,superfamily_AcylCoA_DH/oxidase,pirsf_Acyl-CoA_oxidase	p.R84W	ENST00000356406.5	37	c.250	CCDS3401.1	4	.	.	.	.	.	.	.	.	.	.	G	17.65	3.441188	0.63067	.	.	ENSG00000087008	ENST00000413009;ENST00000356406;ENST00000503233	T;T;T	0.50277	0.75;0.75;0.75	5.39	0.782	0.18567	Acyl-CoA dehydrogenase/oxidase (1);	0.290302	0.32785	N	0.005641	T	0.67720	0.2923	M	0.83483	2.645	0.09310	N	0.999996	D;D	0.89917	1.0;1.0	D;D	0.76071	0.986;0.987	T	0.63659	-0.6587	10	0.51188	T	0.08	-29.9118	14.1275	0.65230	0.0:0.0:0.23:0.77	.	84;84	O15254-2;O15254	.;ACOX3_HUMAN	W	84	ENSP00000413994:R84W;ENSP00000348775:R84W;ENSP00000421625:R84W	ENSP00000348775:R84W	R	-	1	2	ACOX3	8468521	0.997000	0.39634	0.001000	0.08648	0.155000	0.21991	2.098000	0.41757	0.187000	0.20147	0.650000	0.86243	CGG	ACOX3	-	superfamily_AcylCoA_DH/oxidase,pirsf_Acyl-CoA_oxidase		0.517	ACOX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACOX3	HGNC	protein_coding	OTTHUMT00000206997.4	G			8417621	-1	no_errors	ENST00000356406	ensembl	human	known	70_37	missense	SNP	0.001	A
ACSL4	2182	genome.wustl.edu	37	X	108911444	108911444	+	Nonsense_Mutation	SNP	C	C	A			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chrX:108911444C>A	ENST00000469796.2	-	11	1720	c.1324G>T	c.(1324-1326)Gga>Tga	p.G442*	ACSL4_ENST00000348502.6_Nonsense_Mutation_p.G401*|ACSL4_ENST00000340800.2_Nonsense_Mutation_p.G442*			O60488	ACSL4_HUMAN	acyl-CoA synthetase long-chain family member 4	442					cellular lipid metabolic process (GO:0044255)|dendritic spine development (GO:0060996)|embryonic process involved in female pregnancy (GO:0060136)|fatty acid transport (GO:0015908)|lipid biosynthetic process (GO:0008610)|lipid metabolic process (GO:0006629)|long-chain fatty acid metabolic process (GO:0001676)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|negative regulation of prostaglandin secretion (GO:0032307)|positive regulation of cell growth (GO:0030307)|response to interleukin-15 (GO:0070672)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|ER-mitochondrion membrane contact site (GO:0044233)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lipid particle (GO:0005811)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|neuronal cell body (GO:0043025)|peroxisome (GO:0005777)	arachidonate-CoA ligase activity (GO:0047676)|ATP binding (GO:0005524)|long-chain fatty acid-CoA ligase activity (GO:0004467)|very long-chain fatty acid-CoA ligase activity (GO:0031957)			breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(6)|ovary(2)	22					Icosapent(DB00159)|Rosiglitazone(DB00412)	GGGGCCCCTCCAGACAGCATC	0.483																																					Pancreas(188;358 2127 38547 41466 45492)												0													117.0	99.0	105.0					X																	108911444		2203	4300	6503	SO:0001587	stop_gained	2182			BC034959	CCDS14548.1, CCDS14549.1	Xq22.3-q23	2008-02-05	2004-02-19	2004-02-20	ENSG00000068366	ENSG00000068366		"""Acyl-CoA synthetase family"""	3571	protein-coding gene	gene with protein product	"""lignoceroyl-CoA synthase"", "" long-chain fatty-acid-Coenzyme A ligase 4"""	300157	"""fatty-acid-Coenzyme A ligase, long-chain 4"", ""mental retardation, X-linked 63"", ""mental retardation, X-linked 68"""	FACL4, MRX63, MRX68		9480748, 12949969	Standard	NM_022977		Approved	ACS4, LACS4	uc004eoi.2	O60488	OTTHUMG00000022190	ENST00000469796.2:c.1324G>T	X.37:g.108911444C>A	ENSP00000419171:p.Gly442*	Somatic		WXS	Illumina HiSeq	Phase_IV	D3DUY2|O60848|O60849|Q5JWV8	Nonsense_Mutation	SNP	pfam_AMP-dep_Synth/Lig	p.G442*	ENST00000469796.2	37	c.1324	CCDS14548.1	X	.	.	.	.	.	.	.	.	.	.	C	44	11.001339	0.99501	.	.	ENSG00000068366	ENST00000348502;ENST00000469796;ENST00000340800	.	.	.	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-12.4497	18.7662	0.91874	0.0:1.0:0.0:0.0	.	.	.	.	X	401;442;442	.	ENSP00000339787:G442X	G	-	1	0	ACSL4	108798100	1.000000	0.71417	0.962000	0.40283	0.698000	0.40448	7.818000	0.86416	2.377000	0.81083	0.600000	0.82982	GGA	ACSL4	-	pfam_AMP-dep_Synth/Lig		0.483	ACSL4-003	KNOWN	basic|CCDS	protein_coding	ACSL4	HGNC	protein_coding	OTTHUMT00000358155.2	C	NM_004458		108911444	-1	no_errors	ENST00000340800	ensembl	human	known	70_37	nonsense	SNP	1.000	A
ACSM2B	348158	genome.wustl.edu	37	16	20548681	20548681	+	Missense_Mutation	SNP	C	C	G			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr16:20548681C>G	ENST00000329697.6	-	14	1801	c.1633G>C	c.(1633-1635)Gag>Cag	p.E545Q	ACSM2B_ENST00000565232.1_Missense_Mutation_p.E545Q|ACSM2B_ENST00000565322.1_Missense_Mutation_p.E466Q|ACSM2B_ENST00000567001.1_Missense_Mutation_p.E545Q	NM_001105069.1	NP_001098539.1	Q68CK6	ACS2B_HUMAN	acyl-CoA synthetase medium-chain family member 2B	545					fatty acid metabolic process (GO:0006631)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|metal ion binding (GO:0046872)	p.E545*(1)		breast(4)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(4)|lung(33)|ovary(1)|prostate(1)|skin(5)	57						AAGACAAACTCTATCTGTTGA	0.483																																																	1	Substitution - Nonsense(1)	lung(1)											168.0	158.0	161.0					16																	20548681		2202	4298	6500	SO:0001583	missense	348158			AY160217	CCDS10586.1	16p12.3	2014-08-08	2007-06-20	2007-06-20	ENSG00000066813	ENSG00000066813		"""Acyl-CoA synthetase family"""	30931	protein-coding gene	gene with protein product	"""xenobiotic/medium chain fatty acid:CoA ligase"""	614359	"""acyl-CoA synthetase medium-chain family member 2"""	ACSM2		12616642	Standard	NM_182617		Approved	HXMA, HYST1046	uc002dhk.4	Q68CK6	OTTHUMG00000131555	ENST00000329697.6:c.1633G>C	16.37:g.20548681C>G	ENSP00000327453:p.Glu545Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	Q86YT1	Missense_Mutation	SNP	pfam_AMP-dep_Synth/Lig	p.E545Q	ENST00000329697.6	37	c.1633	CCDS10586.1	16	.	.	.	.	.	.	.	.	.	.	C	14.11	2.436603	0.43224	.	.	ENSG00000066813	ENST00000329697	T	0.57595	0.39	3.09	3.09	0.35607	.	0.000000	0.44097	D	0.000486	T	0.63367	0.2505	L	0.56340	1.77	0.80722	D	1	D	0.60160	0.987	P	0.61800	0.894	T	0.67237	-0.5721	10	0.52906	T	0.07	-29.7383	14.2581	0.66065	0.0:1.0:0.0:0.0	.	545	Q68CK6	ACS2B_HUMAN	Q	545	ENSP00000327453:E545Q	ENSP00000327453:E545Q	E	-	1	0	ACSM2B	20456182	0.999000	0.42202	0.877000	0.34402	0.159000	0.22180	4.308000	0.59129	1.707000	0.51288	0.609000	0.83330	GAG	ACSM2B	-	NULL		0.483	ACSM2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACSM2B	HGNC	protein_coding	OTTHUMT00000254417.2	C	NM_182617		20548681	-1	no_errors	ENST00000329697	ensembl	human	known	70_37	missense	SNP	1.000	G
ACSS1	84532	genome.wustl.edu	37	20	24994643	24994643	+	Missense_Mutation	SNP	G	G	A	rs375554533		TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr20:24994643G>A	ENST00000323482.4	-	9	1485	c.1406C>T	c.(1405-1407)gCg>gTg	p.A469V	ACSS1_ENST00000432802.2_Missense_Mutation_p.A469V|ACSS1_ENST00000484396.1_5'Flank|ACSS1_ENST00000537502.1_Missense_Mutation_p.A386V|ACSS1_ENST00000542618.1_Missense_Mutation_p.A348V	NM_001252675.1|NM_032501.3	NP_001239604.1|NP_115890.2	Q9NUB1	ACS2L_HUMAN	acyl-CoA synthetase short-chain family member 1	469					acetate biosynthetic process (GO:0019413)|acetyl-CoA biosynthetic process (GO:0006085)|acetyl-CoA biosynthetic process from acetate (GO:0019427)|ethanol oxidation (GO:0006069)|propionate biosynthetic process (GO:0019542)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	mitochondrial matrix (GO:0005759)	acetate-CoA ligase activity (GO:0003987)|AMP binding (GO:0016208)|ATP binding (GO:0005524)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	26					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	GGGCCTCATCGCCATGGCAGG	0.577																																																	0								G	VAL/ALA	0,4406		0,0,2203	103.0	66.0	79.0		1406	5.0	1.0	20		79	1,8599	1.2+/-3.3	0,1,4299	no	missense	ACSS1	NM_032501.2	64	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	469/690	24994643	1,13005	2203	4300	6503	SO:0001583	missense	84532				CCDS13167.1, CCDS58764.1, CCDS58765.1	20p11.23-p11.21	2012-07-13	2005-09-08	2005-09-08	ENSG00000154930	ENSG00000154930	6.2.1.1	"""Acyl-CoA synthetase family"""	16091	protein-coding gene	gene with protein product		614355	"""acetyl-Coenzyme A synthetase 2 (AMP forming)-like"""	ACAS2L			Standard	NM_032501		Approved	dJ568C11.3, AceCS2L, MGC33843	uc002wub.3	Q9NUB1	OTTHUMG00000032112	ENST00000323482.4:c.1406C>T	20.37:g.24994643G>A	ENSP00000316924:p.Ala469Val	Somatic		WXS	Illumina HiSeq	Phase_IV	B3KXL2|B4DJZ3|D3DW48|F5H6F4|F8W7Y1|Q5TF42|Q8IV99|Q8N234|Q96JI1|Q96JX6|Q9NU28	Missense_Mutation	SNP	pfam_AMP-dep_Synth/Lig,pfam_Acyl-CoA_synth_DUF3448,tigrfam_Ac_CoA_lig	p.A469V	ENST00000323482.4	37	c.1406	CCDS13167.1	20	.	.	.	.	.	.	.	.	.	.	G	24.0	4.487351	0.84854	0.0	1.16E-4	ENSG00000154930	ENST00000323482;ENST00000376727;ENST00000537502;ENST00000432802;ENST00000542618	T;T;T;T	0.42900	0.96;0.96;0.96;0.96	5.0	5.0	0.66597	AMP-dependent synthetase/ligase (1);	0.000000	0.85682	D	0.000000	T	0.61223	0.2330	L	0.53780	1.695	0.80722	D	1	D;D;D;D	0.89917	1.0;0.994;0.995;1.0	D;P;D;P	0.91635	0.999;0.86;0.914;0.908	T	0.64262	-0.6449	10	0.87932	D	0	-37.38	17.2233	0.86963	0.0:0.0:1.0:0.0	.	264;467;469;386	E9PC79;Q9NUB1-2;Q9NUB1;Q6ZV30	.;.;ACS2L_HUMAN;.	V	469;264;386;469;348	ENSP00000316924:A469V;ENSP00000439304:A386V;ENSP00000388793:A469V;ENSP00000437657:A348V	ENSP00000316924:A469V	A	-	2	0	ACSS1	24942643	1.000000	0.71417	0.951000	0.38953	0.335000	0.28730	9.255000	0.95524	2.461000	0.83175	0.563000	0.77884	GCG	ACSS1	-	pfam_AMP-dep_Synth/Lig,tigrfam_Ac_CoA_lig		0.577	ACSS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACSS1	HGNC	protein_coding	OTTHUMT00000078386.2	G	NM_032501		24994643	-1	no_errors	ENST00000323482	ensembl	human	known	70_37	missense	SNP	1.000	A
ACTA1	58	genome.wustl.edu	37	1	229567610	229567610	+	Missense_Mutation	SNP	C	C	T			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr1:229567610C>T	ENST00000366684.3	-	6	950	c.848G>A	c.(847-849)aGc>aAc	p.S283N	ACTA1_ENST00000366683.2_Missense_Mutation_p.S195N	NM_001100.3	NP_001091.1	P68133	ACTS_HUMAN	actin, alpha 1, skeletal muscle	283					cell growth (GO:0016049)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|response to extracellular stimulus (GO:0009991)|response to lithium ion (GO:0010226)|response to mechanical stimulus (GO:0009612)|response to steroid hormone (GO:0048545)|skeletal muscle fiber adaptation (GO:0043503)|skeletal muscle fiber development (GO:0048741)|skeletal muscle thin filament assembly (GO:0030240)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|blood microparticle (GO:0072562)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|sarcomere (GO:0030017)|stress fiber (GO:0001725)|striated muscle thin filament (GO:0005865)	ADP binding (GO:0043531)|ATP binding (GO:0005524)|myosin binding (GO:0017022)|structural constituent of cytoskeleton (GO:0005200)			endometrium(4)|large_intestine(4)|lung(18)|prostate(1)|urinary_tract(1)	28	Breast(184;0.0858)|Ovarian(103;0.103)	Prostate(94;0.167)				CTTCATGATGCTGTTGTAGGT	0.647																																																	0													157.0	139.0	145.0					1																	229567610		2203	4300	6503	SO:0001583	missense	58			J00068	CCDS1578.1	1q42.13	2014-09-17			ENSG00000143632	ENSG00000143632			129	protein-coding gene	gene with protein product	"""nemaline myopathy type 3"""	102610		ACTA		10072583, 6865942	Standard	NM_001100		Approved	NEM3	uc001htm.3	P68133	OTTHUMG00000038006	ENST00000366684.3:c.848G>A	1.37:g.229567610C>T	ENSP00000355645:p.Ser283Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	P02568|P99020|Q5T8M9	Missense_Mutation	SNP	pfam_Actin-like,smart_Actin-like,prints_Actin-like	p.S283N	ENST00000366684.3	37	c.848	CCDS1578.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	11.70|11.70	1.715728|1.715728	0.30413|0.30413	.|.	.|.	ENSG00000143632|ENSG00000143632	ENST00000342787|ENST00000366684;ENST00000308794;ENST00000366683;ENST00000366682	.|D;D	.|0.96041	.|-3.89;-3.89	4.46|4.46	3.53|3.53	0.40419|0.40419	.|.	.|0.086607	.|0.85682	.|D	.|0.000000	.|D	.|0.97955	.|0.9327	H|H	0.99979|0.99979	5.18|5.18	0.46849|0.46849	D|D	0.999226|0.999226	.|B	.|0.12630	.|0.006	.|B	.|0.23852	.|0.049	.|D	.|0.96153	.|0.9109	.|10	.|0.87932	.|D	.|0	.|.	14.4249|14.4249	0.67207|0.67207	0.0:0.8513:0.1487:0.0|0.0:0.8513:0.1487:0.0	.|.	.|283	.|P68133	.|ACTS_HUMAN	.|N	-1|283;193;195;248	.|ENSP00000355645:S283N;ENSP00000355644:S195N	.|ENSP00000312351:S193N	.|S	-|-	.|2	.|0	ACTA1|ACTA1	227634233|227634233	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.551000|0.551000	0.35334|0.35334	3.092000|3.092000	0.50207|0.50207	1.071000|1.071000	0.40834|0.40834	-0.302000|-0.302000	0.09304|0.09304	.|AGC	ACTA1	-	pfam_Actin-like,smart_Actin-like		0.647	ACTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACTA1	HGNC	protein_coding	OTTHUMT00000092781.1	C	NM_001100		229567610	-1	no_errors	ENST00000366684	ensembl	human	known	70_37	missense	SNP	1.000	T
ACTL7B	10880	genome.wustl.edu	37	9	111617807	111617807	+	Missense_Mutation	SNP	C	C	T			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr9:111617807C>T	ENST00000374667.3	-	1	1432	c.404G>A	c.(403-405)cGc>cAc	p.R135H		NM_006686.3	NP_006677.1	Q9Y614	ACL7B_HUMAN	actin-like 7B	135						actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)	structural constituent of cytoskeleton (GO:0005200)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						CATGGCGGTGCGGAAGATGTA	0.627																																																	0													68.0	49.0	56.0					9																	111617807		2203	4300	6503	SO:0001583	missense	10880			BC033789	CCDS6771.1	9q31	2009-05-15			ENSG00000148156	ENSG00000148156			162	protein-coding gene	gene with protein product		604304				10373328, 12907721	Standard	NM_006686		Approved	Tact1	uc004bdi.3	Q9Y614	OTTHUMG00000020462	ENST00000374667.3:c.404G>A	9.37:g.111617807C>T	ENSP00000363799:p.Arg135His	Somatic		WXS	Illumina HiSeq	Phase_IV	B2R9Q2|Q5JSV1	Missense_Mutation	SNP	pfam_Actin-like,smart_Actin-like,prints_Actin-like	p.R135H	ENST00000374667.3	37	c.404	CCDS6771.1	9	.	.	.	.	.	.	.	.	.	.	C	9.023	0.985422	0.18889	.	.	ENSG00000148156	ENST00000374667	D	0.94650	-3.48	4.47	-0.841	0.10752	.	1.216040	0.06311	N	0.702600	D	0.85643	0.5744	N	0.05441	-0.05	0.24466	N	0.994412	B	0.02656	0.0	B	0.01281	0.0	T	0.74453	-0.3660	10	0.87932	D	0	.	4.0301	0.09705	0.1478:0.2531:0.0:0.599	.	135	Q9Y614	ACL7B_HUMAN	H	135	ENSP00000363799:R135H	ENSP00000363799:R135H	R	-	2	0	ACTL7B	110657628	1.000000	0.71417	0.986000	0.45419	0.759000	0.43091	2.786000	0.47790	-0.298000	0.08921	-0.982000	0.02568	CGC	ACTL7B	-	pfam_Actin-like,smart_Actin-like		0.627	ACTL7B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACTL7B	HGNC	protein_coding	OTTHUMT00000053571.1	C	NM_006686		111617807	-1	no_errors	ENST00000374667	ensembl	human	known	70_37	missense	SNP	1.000	T
ACVR1C	130399	genome.wustl.edu	37	2	158395204	158395204	+	Missense_Mutation	SNP	C	C	T			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr2:158395204C>T	ENST00000243349.8	-	8	1597	c.1237G>A	c.(1237-1239)Gag>Aag	p.E413K	ACVR1C_ENST00000409680.3_Missense_Mutation_p.E363K|ACVR1C_ENST00000348328.5_Missense_Mutation_p.E256K|ACVR1C_ENST00000335450.7_Missense_Mutation_p.E333K	NM_001111032.1|NM_145259.2	NP_001104502.1|NP_660302.2			activin A receptor, type IC											NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	42						AATTGGTACTCCTCAACAATT	0.338																																																	0													87.0	86.0	86.0					2																	158395204		2203	4300	6503	SO:0001583	missense	130399			BC022530	CCDS2205.1, CCDS46432.1, CCDS46433.1, CCDS46434.1	2q24.2	2008-02-05			ENSG00000123612	ENSG00000123612			18123	protein-coding gene	gene with protein product		608981					Standard	NM_145259		Approved	ALK7, ACVRLK7	uc002tzk.4	Q8NER5	OTTHUMG00000131964	ENST00000243349.8:c.1237G>A	2.37:g.158395204C>T	ENSP00000243349:p.Glu413Lys	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_TGF_beta_rcpt_GS,pfam_Activin_rcpt,superfamily_Kinase-like_dom,smart_TGF_beta_rcpt_GS,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.E413K	ENST00000243349.8	37	c.1237	CCDS2205.1	2	.	.	.	.	.	.	.	.	.	.	C	35	5.499857	0.96355	.	.	ENSG00000123612	ENST00000243349;ENST00000409680;ENST00000348328;ENST00000335450	D;D;D;D	0.93659	-3.26;-3.26;-3.26;-3.26	5.52	5.52	0.82312	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.115270	0.38217	N	0.001762	D	0.95723	0.8609	M	0.71036	2.16	0.80722	D	1	D;P;P	0.54772	0.968;0.892;0.576	P;P;P	0.56960	0.81;0.551;0.457	D	0.95969	0.8968	10	0.87932	D	0	.	19.0314	0.92959	0.0:1.0:0.0:0.0	.	256;333;413	Q8NER5-2;Q8NER5-3;Q8NER5	.;.;ACV1C_HUMAN	K	413;363;256;333	ENSP00000243349:E413K;ENSP00000387168:E363K;ENSP00000335139:E256K;ENSP00000335178:E333K	ENSP00000243349:E413K	E	-	1	0	ACVR1C	158103450	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.818000	0.86416	2.590000	0.87494	0.650000	0.86243	GAG	ACVR1C	-	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		0.338	ACVR1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACVR1C	HGNC	protein_coding	OTTHUMT00000254924.2	C	NM_145259		158395204	-1	no_errors	ENST00000243349	ensembl	human	known	70_37	missense	SNP	1.000	T
ACY1	95	genome.wustl.edu	37	3	52021613	52021613	+	Silent	SNP	C	C	T			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr3:52021613C>T	ENST00000404366.2	+	12	1040	c.894C>T	c.(892-894)ggC>ggT	p.G298G	ACY1_ENST00000476854.1_Silent_p.G233G|ACY1_ENST00000494103.1_Silent_p.G226G|ACY1_ENST00000458031.2_Silent_p.G388G|ACY1_ENST00000476351.1_Silent_p.G263G|ABHD14A-ACY1_ENST00000463937.1_Silent_p.G399G	NM_000666.2|NM_001198895.1	NP_000657.1|NP_001185824.1	Q03154	ACY1_HUMAN	aminoacylase 1	298					cellular amino acid metabolic process (GO:0006520)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	aminoacylase activity (GO:0004046)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)			breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	11				BRCA - Breast invasive adenocarcinoma(193;8.01e-05)|Kidney(197;0.000534)|KIRC - Kidney renal clear cell carcinoma(197;0.000716)	Acetylcysteine(DB06151)|L-Aspartic Acid(DB00128)	AGGCAGCTGGCGAGGGGGTCA	0.577																																																	0													45.0	51.0	49.0					3																	52021613		2203	4300	6503	SO:0001819	synonymous_variant	95			L07548	CCDS2844.1, CCDS56261.1, CCDS56262.1, CCDS56263.1	3p21.2	2006-02-02			ENSG00000243989	ENSG00000243989	3.5.1.14		177	protein-coding gene	gene with protein product		104620				1707030, 6948533	Standard	NM_000666		Approved		uc003dcq.3	Q03154	OTTHUMG00000157815	ENST00000404366.2:c.894C>T	3.37:g.52021613C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	C9J6I6|C9J9D8|C9JWD4	Silent	SNP	pfam_Peptidase_M20,pfam_Peptidase_M20_dimer,superfamily_Peptidase_M20_dimer,tigrfam_N-acyl_aa_amidohydrolase	p.G388	ENST00000404366.2	37	c.1164	CCDS2844.1	3																																																																																			ACY1	-	pfam_Peptidase_M20,pfam_Peptidase_M20_dimer,superfamily_Peptidase_M20_dimer,tigrfam_N-acyl_aa_amidohydrolase		0.577	ACY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ACY1	HGNC	protein_coding	OTTHUMT00000349657.1	C	NM_000666		52021613	+1	no_errors	ENST00000458031	ensembl	human	known	70_37	silent	SNP	0.486	T
ADAM17	6868	genome.wustl.edu	37	2	9637283	9637283	+	Silent	SNP	G	G	A			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr2:9637283G>A	ENST00000310823.3	-	14	1925	c.1743C>T	c.(1741-1743)ttC>ttT	p.F581F		NM_003183.4	NP_003174.3	P78536	ADA17_HUMAN	ADAM metallopeptidase domain 17	581	Cys-rich.				apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|B cell differentiation (GO:0030183)|cell adhesion (GO:0007155)|cell adhesion mediated by integrin (GO:0033627)|cell motility (GO:0048870)|collagen catabolic process (GO:0030574)|epidermal growth factor receptor signaling pathway (GO:0007173)|epidermal growth factor-activated receptor transactivation by G-protein coupled receptor signaling pathway (GO:0035625)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|germinal center formation (GO:0002467)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|membrane protein ectodomain proteolysis (GO:0006509)|membrane protein intracellular domain proteolysis (GO:0031293)|negative regulation of interleukin-8 production (GO:0032717)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neurotrophin TRK receptor signaling pathway (GO:0048011)|neutrophil mediated immunity (GO:0002446)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|PMA-inducible membrane protein ectodomain proteolysis (GO:0051088)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cellular component movement (GO:0051272)|positive regulation of chemokine production (GO:0032722)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of leukocyte chemotaxis (GO:0002690)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of T cell chemotaxis (GO:0010820)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|proteolysis (GO:0006508)|regulation of mast cell apoptotic process (GO:0033025)|response to drug (GO:0042493)|response to high density lipoprotein particle (GO:0055099)|response to hypoxia (GO:0001666)|response to lipopolysaccharide (GO:0032496)|spleen development (GO:0048536)|T cell differentiation in thymus (GO:0033077)|wound healing, spreading of epidermal cells (GO:0035313)	actin cytoskeleton (GO:0015629)|apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	integrin binding (GO:0005178)|interleukin-6 receptor binding (GO:0005138)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|Notch binding (GO:0005112)|PDZ domain binding (GO:0030165)|zinc ion binding (GO:0008270)			breast(1)|cervix(4)|endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1)	28	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.225)		CCCTCTCGCAGAAAGGGATGC	0.507																																																	0													195.0	168.0	177.0					2																	9637283		2203	4300	6503	SO:0001819	synonymous_variant	6868			U69611	CCDS1665.1	2p25	2010-08-05	2008-07-31		ENSG00000151694	ENSG00000151694		"""ADAM metallopeptidase domain containing"", ""CD molecules"""	195	protein-coding gene	gene with protein product		603639	"""tumor necrosis factor, alpha, converting enzyme"""	TACE		9034190, 9574564	Standard	NM_003183		Approved	cSVP, CD156B	uc002qzu.3	P78536	OTTHUMG00000090425	ENST00000310823.3:c.1743C>T	2.37:g.9637283G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	O60226	Silent	SNP	pfam_Blood-coag_inhib_Disintegrin,pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,superfamily_Blood-coag_inhib_Disintegrin,smart_Blood-coag_inhib_Disintegrin,pfscan_Blood-coag_inhib_Disintegrin,pfscan_Peptidase_M12B	p.F581	ENST00000310823.3	37	c.1743	CCDS1665.1	2																																																																																			ADAM17	-	NULL		0.507	ADAM17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAM17	HGNC	protein_coding	OTTHUMT00000206857.1	G			9637283	-1	no_errors	ENST00000310823	ensembl	human	known	70_37	silent	SNP	1.000	A
ADAMTS12	81792	genome.wustl.edu	37	5	33527413	33527413	+	Missense_Mutation	SNP	C	C	T			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr5:33527413C>T	ENST00000504830.1	-	24	5000	c.4665G>A	c.(4663-4665)atG>atA	p.M1555I	ADAMTS12_ENST00000352040.3_Missense_Mutation_p.M1470I	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	1555	PLAC. {ECO:0000255|PROSITE- ProRule:PRU00233}.				cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cellular response to BMP stimulus (GO:0071773)|cellular response to interleukin-1 (GO:0071347)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of cellular response to hepatocyte growth factor stimulus (GO:2001113)|negative regulation of cellular response to vascular endothelial growth factor stimulus (GO:1902548)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of hepatocyte growth factor receptor signaling pathway (GO:1902203)|proteoglycan catabolic process (GO:0030167)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of endothelial tube morphogenesis (GO:1901509)|regulation of inflammatory response (GO:0050727)	extracellular matrix (GO:0031012)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						AACATTTCTTCATGGCTTTCA	0.468										HNSCC(64;0.19)																																							0													168.0	153.0	158.0					5																	33527413		2203	4300	6503	SO:0001583	missense	81792			AJ250725	CCDS34140.1	5q35	2008-07-18	2005-08-19		ENSG00000151388	ENSG00000151388		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	14605	protein-coding gene	gene with protein product		606184	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 12"""			11279086	Standard	NM_030955		Approved		uc003jia.1	P58397	OTTHUMG00000162088	ENST00000504830.1:c.4665G>A	5.37:g.33527413C>T	ENSP00000422554:p.Met1555Ile	Somatic		WXS	Illumina HiSeq	Phase_IV	A2RRN9|A5D6V6|Q6UWL3	Missense_Mutation	SNP	pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS	p.M1555I	ENST00000504830.1	37	c.4665	CCDS34140.1	5	.	.	.	.	.	.	.	.	.	.	C	15.81	2.942727	0.53079	.	.	ENSG00000151388	ENST00000504830;ENST00000352040	T;T	0.58506	0.33;0.33	5.93	5.01	0.66863	PLAC (1);	0.146967	0.64402	D	0.000008	T	0.49012	0.1532	L	0.46157	1.445	0.80722	D	1	B;B	0.16396	0.017;0.005	B;B	0.10450	0.005;0.002	T	0.40403	-0.9565	10	0.34782	T	0.22	.	11.5862	0.50920	0.1775:0.8224:0.0:0.0	.	1470;1555	P58397-3;P58397	.;ATS12_HUMAN	I	1555;1470	ENSP00000422554:M1555I;ENSP00000344847:M1470I	ENSP00000344847:M1470I	M	-	3	0	ADAMTS12	33563170	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.616000	0.46376	2.805000	0.96524	0.655000	0.94253	ATG	ADAMTS12	-	pfscan_PLAC		0.468	ADAMTS12-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTS12	HGNC	protein_coding	OTTHUMT00000367164.2	C	NM_030955		33527413	-1	no_errors	ENST00000504830	ensembl	human	known	70_37	missense	SNP	1.000	T
ADAMTS13	11093	genome.wustl.edu	37	9	136310925	136310925	+	Missense_Mutation	SNP	G	G	A			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr9:136310925G>A	ENST00000371929.3	+	21	3160	c.2716G>A	c.(2716-2718)Gtc>Atc	p.V906I	ADAMTS13_ENST00000371916.1_3'UTR|ADAMTS13_ENST00000355699.2_Missense_Mutation_p.V906I|ADAMTS13_ENST00000485925.1_3'UTR|ADAMTS13_ENST00000536611.1_3'UTR|ADAMTS13_ENST00000356589.2_Missense_Mutation_p.V875I	NM_139025.3|NM_139027.3	NP_620594.1|NP_620596.2	Q76LX8	ATS13_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 13	906	TSP type-1 5. {ECO:0000255|PROSITE- ProRule:PRU00210}.				cell-matrix adhesion (GO:0007160)|glycoprotein metabolic process (GO:0009100)|integrin-mediated signaling pathway (GO:0007229)|peptide catabolic process (GO:0043171)|platelet activation (GO:0030168)|protein processing (GO:0016485)|proteolysis (GO:0006508)|response to interferon-gamma (GO:0034341)|response to interleukin-4 (GO:0070670)|response to tumor necrosis factor (GO:0034612)	cell surface (GO:0009986)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(2)|prostate(3)|skin(4)	36				OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05)		GTCGTGCTCCGTCTCCTGCGG	0.647																																																	0													42.0	42.0	42.0					9																	136310925		2203	4299	6502	SO:0001583	missense	11093			AJ011374	CCDS6970.1, CCDS6971.1, CCDS6972.1	9q34	2008-07-21	2005-08-19	2001-09-21	ENSG00000160323	ENSG00000160323		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	1366	protein-coding gene	gene with protein product		604134	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 13"""	C9orf8		11557746, 11535495	Standard	NM_139025		Approved	VWFCP, TTP, vWF-CP, FLJ42993, MGC118899, MGC118900, DKFZp434C2322	uc004cdv.4	Q76LX8	OTTHUMG00000020876	ENST00000371929.3:c.2716G>A	9.37:g.136310925G>A	ENSP00000360997:p.Val906Ile	Somatic		WXS	Illumina HiSeq	Phase_IV	Q6UY16|Q710F6|Q711T8|Q96L37|Q9H0G3|Q9UGQ1	Missense_Mutation	SNP	pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,superfamily_CUB,smart_ADAM_Cys-rich,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS	p.V906I	ENST00000371929.3	37	c.2716	CCDS6970.1	9	.	.	.	.	.	.	.	.	.	.	G	13.13	2.144664	0.37825	.	.	ENSG00000160323	ENST00000371929;ENST00000355699;ENST00000356589	T;T;T	0.69040	-0.36;-0.37;-0.35	5.8	4.89	0.63831	.	.	.	.	.	T	0.48241	0.1489	L	0.29908	0.895	0.80722	D	1	P;B;B	0.39094	0.659;0.268;0.268	B;B;B	0.27500	0.067;0.08;0.08	T	0.47886	-0.9082	9	0.33141	T	0.24	.	11.7865	0.52045	0.086:0.0:0.914:0.0	.	906;875;906	Q76LX8;Q76LX8-3;Q76LX8-2	ATS13_HUMAN;.;.	I	906;906;875	ENSP00000360997:V906I;ENSP00000347927:V906I;ENSP00000348997:V875I	ENSP00000347927:V906I	V	+	1	0	ADAMTS13	135300746	0.820000	0.29190	0.909000	0.35828	0.541000	0.35023	3.193000	0.50997	1.423000	0.47198	0.655000	0.94253	GTC	ADAMTS13	-	superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt		0.647	ADAMTS13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ADAMTS13	HGNC	protein_coding	OTTHUMT00000054920.1	G	NM_139025		136310925	+1	no_errors	ENST00000371929	ensembl	human	known	70_37	missense	SNP	0.975	A
ADAMTS19	171019	genome.wustl.edu	37	5	129037112	129037112	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr5:129037112C>T	ENST00000274487.4	+	20	3113	c.2968C>T	c.(2968-2970)Cga>Tga	p.R990*	ADAMTS19_ENST00000509467.1_3'UTR|CTC-575N7.1_ENST00000503616.1_RNA	NM_133638.3	NP_598377.3	Q8TE59	ATS19_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 19	990	TSP type-1 3. {ECO:0000255|PROSITE- ProRule:PRU00210}.					proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6)	91		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)		CCCTTGTTCACGAACTTGTGG	0.458																																																	0													115.0	108.0	111.0					5																	129037112		2203	4300	6503	SO:0001587	stop_gained	171019			AJ311904	CCDS4146.1	5q23.3	2009-04-27	2005-08-19		ENSG00000145808	ENSG00000145808		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17111	protein-coding gene	gene with protein product		607513	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 19"""			11867212	Standard	NM_133638		Approved		uc003kvb.1	Q8TE59	OTTHUMG00000128990	ENST00000274487.4:c.2968C>T	5.37:g.129037112C>T	ENSP00000274487:p.Arg990*	Somatic		WXS	Illumina HiSeq	Phase_IV		Nonsense_Mutation	SNP	pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B,pfam_Peptidase_M12B_N,pfam_PLAC,pfam_Pept_M10_metallopeptidase,superfamily_Thrombospondin_1_rpt,smart_ADAM_Cys-rich,smart_Thrombospondin_1_rpt,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS	p.R990*	ENST00000274487.4	37	c.2968	CCDS4146.1	5	.	.	.	.	.	.	.	.	.	.	C	41	8.814639	0.98964	.	.	ENSG00000145808	ENST00000274487	.	.	.	4.0	2.16	0.27623	.	0.167464	0.29106	N	0.013129	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.1836	0.20486	0.5053:0.3997:0.0:0.095	.	.	.	.	X	990	.	.	R	+	1	2	ADAMTS19	129065011	1.000000	0.71417	1.000000	0.80357	0.929000	0.56500	1.126000	0.31344	0.619000	0.30197	0.650000	0.86243	CGA	ADAMTS19	-	pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt		0.458	ADAMTS19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTS19	HGNC	protein_coding	OTTHUMT00000250979.2	C	NM_133638		129037112	+1	no_errors	ENST00000274487	ensembl	human	known	70_37	nonsense	SNP	0.999	T
ADAMTS20	80070	genome.wustl.edu	37	12	43771178	43771178	+	Missense_Mutation	SNP	T	T	G			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr12:43771178T>G	ENST00000389420.3	-	32	4984	c.4985A>C	c.(4984-4986)aAa>aCa	p.K1662T		NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	1662	TSP type-1 15. {ECO:0000255|PROSITE- ProRule:PRU00210}.				extracellular matrix organization (GO:0030198)|negative regulation of apoptotic process (GO:0043066)|positive regulation of melanocyte differentiation (GO:0045636)|positive regulation of signal transduction (GO:0009967)	extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		CTTGCTCCATTTTCCAACTTT	0.398																																																	0													75.0	70.0	72.0					12																	43771178		2203	4300	6503	SO:0001583	missense	80070			AF488804	CCDS31778.2	12q12	2005-08-19	2005-08-19			ENSG00000173157		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17178	protein-coding gene	gene with protein product		611681	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 20"""			12514189, 12562771	Standard	NM_025003		Approved	GON-1	uc010skx.2	P59510		ENST00000389420.3:c.4985A>C	12.37:g.43771178T>G	ENSP00000374071:p.Lys1662Thr	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NNC9|J3QT00	Missense_Mutation	SNP	pfam_Pept_M12B_GON-ADAMTSs,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Pept_M12B_GON-ADAMTSs,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS	p.K1662T	ENST00000389420.3	37	c.4985	CCDS31778.2	12	.	.	.	.	.	.	.	.	.	.	T	3.796	-0.042638	0.07452	.	.	ENSG00000173157	ENST00000389420	T	0.51817	0.69	4.99	2.58	0.30949	.	0.000000	0.53938	D	0.000060	T	0.49270	0.1547	L	0.45228	1.405	0.80722	D	1	D	0.55385	0.971	P	0.60012	0.867	T	0.37407	-0.9707	10	0.16896	T	0.51	.	8.022	0.30415	0.0:0.072:0.1372:0.7908	.	1662	P59510	ATS20_HUMAN	T	1662	ENSP00000374071:K1662T	ENSP00000374071:K1662T	K	-	2	0	ADAMTS20	42057445	1.000000	0.71417	0.988000	0.46212	0.987000	0.75469	1.687000	0.37680	0.440000	0.26502	0.533000	0.62120	AAA	ADAMTS20	-	pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt		0.398	ADAMTS20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTS20	HGNC	protein_coding	OTTHUMT00000403643.1	T	NM_025003		43771178	-1	no_errors	ENST00000389420	ensembl	human	known	70_37	missense	SNP	1.000	G
ADAMTS20	80070	genome.wustl.edu	37	12	43824240	43824240	+	Missense_Mutation	SNP	C	C	T			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr12:43824240C>T	ENST00000389420.3	-	23	3295	c.3296G>A	c.(3295-3297)cGa>cAa	p.R1099Q	ADAMTS20_ENST00000553158.1_Missense_Mutation_p.R1099Q|ADAMTS20_ENST00000395541.2_Missense_Mutation_p.R253Q	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	1099	TSP type-1 6. {ECO:0000255|PROSITE- ProRule:PRU00210}.				extracellular matrix organization (GO:0030198)|negative regulation of apoptotic process (GO:0043066)|positive regulation of melanocyte differentiation (GO:0045636)|positive regulation of signal transduction (GO:0009967)	extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.R1099L(1)		breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		TTTAACATCTCGCATCTGATA	0.388																																																	1	Substitution - Missense(1)	kidney(1)											148.0	124.0	132.0					12																	43824240		2203	4300	6503	SO:0001583	missense	80070			AF488804	CCDS31778.2	12q12	2005-08-19	2005-08-19			ENSG00000173157		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17178	protein-coding gene	gene with protein product		611681	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 20"""			12514189, 12562771	Standard	NM_025003		Approved	GON-1	uc010skx.2	P59510		ENST00000389420.3:c.3296G>A	12.37:g.43824240C>T	ENSP00000374071:p.Arg1099Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NNC9|J3QT00	Missense_Mutation	SNP	pfam_Pept_M12B_GON-ADAMTSs,pfam_Thrombospondin_1_rpt,pfam_Peptidase_M12B_N,pfam_ADAM_spacer1,pfam_Peptidase_M12B,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Pept_M12B_GON-ADAMTSs,pfscan_Thrombospondin_1_rpt,pfscan_Peptidase_M12B,prints_Peptidase_M12B_ADAM-TS	p.R1099Q	ENST00000389420.3	37	c.3296	CCDS31778.2	12	.	.	.	.	.	.	.	.	.	.	c	28.5	4.929163	0.92389	.	.	ENSG00000173157	ENST00000389420;ENST00000549670;ENST00000395541;ENST00000553158;ENST00000389417	T;T;T;T	0.80738	-1.41;-1.41;-1.41;-1.41	5.3	5.3	0.74995	.	0.000000	0.52532	D	0.000064	D	0.93910	0.8051	H	0.97315	3.98	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.95422	0.8508	10	0.87932	D	0	.	19.8594	0.96778	0.0:1.0:0.0:0.0	.	1099;253	P59510;E9PBD5	ATS20_HUMAN;.	Q	1099;265;253;1099;1099	ENSP00000374071:R1099Q;ENSP00000447427:R265Q;ENSP00000378911:R253Q;ENSP00000448341:R1099Q	ENSP00000374068:R1099Q	R	-	2	0	ADAMTS20	42110507	1.000000	0.71417	1.000000	0.80357	0.554000	0.35429	7.225000	0.78051	2.869000	0.98440	0.556000	0.70494	CGA	ADAMTS20	-	pfam_Thrombospondin_1_rpt,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,pfscan_Thrombospondin_1_rpt		0.388	ADAMTS20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADAMTS20	HGNC	protein_coding	OTTHUMT00000403643.1	C	NM_025003		43824240	-1	no_errors	ENST00000389420	ensembl	human	known	70_37	missense	SNP	1.000	T
ADAMTSL1	92949	genome.wustl.edu	37	9	18776791	18776791	+	Missense_Mutation	SNP	C	C	T			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr9:18776791C>T	ENST00000380548.4	+	19	2903	c.2564C>T	c.(2563-2565)cCa>cTa	p.P855L		NM_001040272.5	NP_001035362.3	Q8N6G6	ATL1_HUMAN	ADAMTS-like 1	855						proteinaceous extracellular matrix (GO:0005578)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(50;1.29e-17)		CCCGGGCGGCCATCCACGAAG	0.627																																																	0													6.0	7.0	6.0					9																	18776791		1886	4025	5911	SO:0001583	missense	92949			AF176313	CCDS6485.1, CCDS47954.1	9p21.3	2013-01-11			ENSG00000178031	ENSG00000178031		"""Immunoglobulin superfamily / I-set domain containing"""	14632	protein-coding gene	gene with protein product	"""punctin"""	609198	"""chromosome 9 open reading frame 94"""	C9orf94		9628581, 11805097	Standard	NM_001040272		Approved	ADAMTSR1, FLJ35283	uc003zne.4	Q8N6G6	OTTHUMG00000019604	ENST00000380548.4:c.2564C>T	9.37:g.18776791C>T	ENSP00000369921:p.Pro855Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	A6PVN1|A8K7E1|Q496M6|Q496M8|Q5T708|Q5VZT8|Q8NAI9|Q96RW4|Q9BXY3	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Thrombospondin_1_rpt,pfam_Immunoglobulin,pfam_PLAC,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_Ig_sub,smart_Ig_sub2,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like,prints_Peptidase_M12B_ADAM-TS	p.P855L	ENST00000380548.4	37	c.2564	CCDS47954.1	9	.	.	.	.	.	.	.	.	.	.	C	5.197	0.221935	0.09863	.	.	ENSG00000178031	ENST00000380548	T	0.62364	0.03	5.23	2.37	0.29283	.	0.390690	0.08080	U	1.000000	T	0.40956	0.1138	N	0.08118	0	0.53688	D	0.999978	B	0.17852	0.024	B	0.10450	0.005	T	0.06607	-1.0817	10	0.27785	T	0.31	.	8.5577	0.33492	0.0:0.7396:0.1257:0.1346	.	855	Q8N6G6	ATL1_HUMAN	L	855	ENSP00000369921:P855L	ENSP00000369921:P855L	P	+	2	0	ADAMTSL1	18766791	0.892000	0.30473	0.482000	0.27366	0.020000	0.10135	1.715000	0.37971	0.221000	0.20879	-0.311000	0.09066	CCA	ADAMTSL1	-	NULL		0.627	ADAMTSL1-012	NOVEL	basic|appris_principal|CCDS	protein_coding	ADAMTSL1	HGNC	protein_coding	OTTHUMT00000401206.1	C			18776791	+1	no_errors	ENST00000380548	ensembl	human	novel	70_37	missense	SNP	0.711	T
ADCK3	56997	genome.wustl.edu	37	1	227170711	227170711	+	Silent	SNP	C	C	T			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr1:227170711C>T	ENST00000366779.1	+	13	3827	c.1056C>T	c.(1054-1056)ggC>ggT	p.G352G	ADCK3_ENST00000458507.2_Silent_p.G73G|ADCK3_ENST00000478406.1_3'UTR|ADCK3_ENST00000433743.2_Intron|ADCK3_ENST00000366778.1_Silent_p.G300G|ADCK3_ENST00000366777.3_Silent_p.G352G			Q8NI60	ADCK3_HUMAN	aarF domain containing kinase 3	352	Protein kinase.				cell death (GO:0008219)|ubiquinone biosynthetic process (GO:0006744)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			endometrium(1)|kidney(2)|large_intestine(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(2)	9						TGAAGGGCGGCCGCGAGGTGG	0.667																																																	0													14.0	19.0	18.0					1																	227170711		2187	4287	6474	SO:0001819	synonymous_variant	56997			AJ278126	CCDS1557.1	1q42.11	2011-05-03	2010-10-01	2010-10-01	ENSG00000163050	ENSG00000163050			16812	protein-coding gene	gene with protein product	"""coenzyme Q8 homolog (yeast)"""	606980	"""chaperone-ABC1 (activity of bc1 complex, S.pombe)-like"", ""chaperone, ABC1 activity of bc1 complex like (S. pombe)"", ""chaperone, ABC1 activity of bc1 complex homolog (S. pombe)"""	CABC1			Standard	NM_020247		Approved	COQ8, SCAR9	uc001hqn.1	Q8NI60	OTTHUMG00000037621	ENST00000366779.1:c.1056C>T	1.37:g.227170711C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q5T7A5|Q63HK0|Q8NCJ6|Q9HBQ1|Q9NQ67	Silent	SNP	pfam_UbiB_dom,superfamily_Kinase-like_dom	p.G352	ENST00000366779.1	37	c.1056	CCDS1557.1	1																																																																																			ADCK3	-	pfam_UbiB_dom,superfamily_Kinase-like_dom		0.667	ADCK3-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ADCK3	HGNC	protein_coding	OTTHUMT00000091712.1	C	NM_020247		227170711	+1	no_errors	ENST00000366777	ensembl	human	known	70_37	silent	SNP	0.985	T
ADRBK2	157	genome.wustl.edu	37	22	26040572	26040572	+	Missense_Mutation	SNP	T	T	G			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr22:26040572T>G	ENST00000324198.6	+	3	396	c.204T>G	c.(202-204)ttT>ttG	p.F68L		NM_005160.3	NP_005151.2	P35626	ARBK2_HUMAN	adrenergic, beta, receptor kinase 2	68	N-terminal.|RGS. {ECO:0000255|PROSITE- ProRule:PRU00171}.				receptor internalization (GO:0031623)|signal transduction (GO:0007165)|termination of G-protein coupled receptor signaling pathway (GO:0038032)		ATP binding (GO:0005524)|beta-adrenergic receptor kinase activity (GO:0047696)|G-protein coupled receptor kinase activity (GO:0004703)|protein kinase activity (GO:0004672)			breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(14)|ovary(2)|skin(3)|stomach(2)	32					Adenosine triphosphate(DB00171)	TCTTGCTATTTAAAGATTTTT	0.299																																																	0													40.0	39.0	39.0					22																	26040572		2197	4275	6472	SO:0001583	missense	157			X69117	CCDS13832.1	22q11	2013-01-10			ENSG00000100077	ENSG00000100077		"""Pleckstrin homology (PH) domain containing"""	290	protein-coding gene	gene with protein product		109636				7695743	Standard	NM_005160		Approved	GRK3, BARK2	uc003abx.4	P35626	OTTHUMG00000150280	ENST00000324198.6:c.204T>G	22.37:g.26040572T>G	ENSP00000317578:p.Phe68Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	Q9UGW9	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Regulat_G_prot_signal,pfam_Pleckstrin_homology,superfamily_Kinase-like_dom,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Regulat_G_prot_signal,pfscan_Prot_kinase_cat_dom,prints_GPCR_kinase	p.F68L	ENST00000324198.6	37	c.204	CCDS13832.1	22	.	.	.	.	.	.	.	.	.	.	T	8.461	0.855247	0.17106	.	.	ENSG00000100077	ENST00000324198;ENST00000545323	T	0.15372	2.43	4.68	2.51	0.30379	Regulator of G protein signalling (3);Regulator of G protein signalling superfamily (1);	0.000000	0.85682	D	0.000000	T	0.15262	0.0368	L	0.55103	1.725	0.58432	D	0.999994	P;B	0.36010	0.532;0.294	B;B	0.37267	0.146;0.245	T	0.03910	-1.0993	10	0.51188	T	0.08	-19.619	4.8341	0.13456	0.0:0.1002:0.19:0.7098	.	68;68	A8K869;P35626	.;ARBK2_HUMAN	L	68	ENSP00000317578:F68L	ENSP00000317578:F68L	F	+	3	2	ADRBK2	24370572	1.000000	0.71417	1.000000	0.80357	0.017000	0.09413	1.541000	0.36126	0.239000	0.21243	-0.321000	0.08615	TTT	ADRBK2	-	pfam_Regulat_G_prot_signal,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal,pfscan_Regulat_G_prot_signal		0.299	ADRBK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ADRBK2	HGNC	protein_coding	OTTHUMT00000317296.4	T	NM_005160		26040572	+1	no_errors	ENST00000324198	ensembl	human	known	70_37	missense	SNP	1.000	G
AGAP3	116988	genome.wustl.edu	37	7	150814254	150814254	+	Missense_Mutation	SNP	G	G	C			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr7:150814254G>C	ENST00000397238.2	+	3	463	c.463G>C	c.(463-465)Gag>Cag	p.E155Q	AGAP3_ENST00000335367.3_Missense_Mutation_p.E335Q|AGAP3_ENST00000463381.1_5'UTR|AGAP3_ENST00000479901.1_Missense_Mutation_p.E155Q|AGAP3_ENST00000473312.1_Missense_Mutation_p.E155Q|AGAP3_ENST00000476375.1_3'UTR	NM_031946.4	NP_114152.3	Q96P47	AGAP3_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 3	119	Small GTPase-like.				cellular response to reactive oxygen species (GO:0034614)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein import into nucleus, translocation (GO:0000060)|regulation of ARF GTPase activity (GO:0032312)|small GTPase mediated signal transduction (GO:0007264)	cell periphery (GO:0071944)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ARF GTPase activator activity (GO:0008060)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|zinc ion binding (GO:0008270)			central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|liver(2)|lung(9)|ovary(2)|prostate(3)|urinary_tract(1)	28						CTATGTCCAGGAGGAGTCCCC	0.672																																																	0													46.0	50.0	49.0					7																	150814254		2097	4261	6358	SO:0001583	missense	116988			AF413079	CCDS43681.1, CCDS55185.1, CCDS64802.1	7q36.1	2013-01-11	2008-09-22	2008-09-22	ENSG00000133612	ENSG00000133612		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	16923	protein-coding gene	gene with protein product			"""centaurin, gamma 3"""	CENTG3			Standard	NM_001042535		Approved		uc003wjg.1	Q96P47	OTTHUMG00000158724	ENST00000397238.2:c.463G>C	7.37:g.150814254G>C	ENSP00000380413:p.Glu155Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	B3KNZ8|E9PAL8|Q59EN0|Q96RK3	Missense_Mutation	SNP	pfam_ArfGAP,pfam_MIRO-like,pfam_Small_GTPase,pfam_Pleckstrin_homology,superfamily_Ankyrin_rpt-contain_dom,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Pleckstrin_homology,smart_ArfGAP,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Pleckstrin_homology,pfscan_ArfGAP,prints_ArfGAP,prints_Small_GTPase	p.E155Q	ENST00000397238.2	37	c.463	CCDS43681.1	7	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	29.1|29.1	4.974813|4.974813	0.92919|0.92919	.|.	.|.	ENSG00000133612|ENSG00000133612	ENST00000473312;ENST00000479901;ENST00000397238;ENST00000335355;ENST00000335367|ENST00000469901	T;T;T;T|.	0.22134|.	1.97;1.97;1.97;1.97|.	4.42|4.42	4.42|4.42	0.53409|0.53409	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.70334|0.70334	0.3212|0.3212	L|L	0.58810|0.58810	1.83|1.83	0.80722|0.80722	D|D	1|1	D;P;D;D|.	0.76494|.	0.985;0.945;0.999;0.998|.	P;P;D;P|.	0.73708|.	0.782;0.637;0.981;0.903|.	T|T	0.69803|0.69803	-0.5046|-0.5046	10|5	0.39692|.	T|.	0.17|.	.|.	16.2035|16.2035	0.82105|0.82105	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	155;335;155;155|.	C9J975;E7ESL9;Q96P47-4;E9PAL8|.	.;.;.;.|.	Q|S	155;155;155;119;335|90	ENSP00000418921:E155Q;ENSP00000418125:E155Q;ENSP00000380413:E155Q;ENSP00000335589:E335Q|.	ENSP00000334157:E119Q|.	E|R	+|+	1|3	0|2	AGAP3|AGAP3	150445187|150445187	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.988000|0.988000	0.76386|0.76386	6.389000|6.389000	0.73199|0.73199	2.303000|2.303000	0.77524|0.77524	0.407000|0.407000	0.27541|0.27541	GAG|AGG	AGAP3	-	pfam_MIRO-like,pfam_Small_GTPase,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type		0.672	AGAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AGAP3	HGNC	protein_coding	OTTHUMT00000351908.3	G	NM_031946		150814254	+1	no_errors	ENST00000397238	ensembl	human	known	70_37	missense	SNP	1.000	C
AGBL5	60509	genome.wustl.edu	37	2	27278920	27278920	+	Missense_Mutation	SNP	G	G	A			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr2:27278920G>A	ENST00000360131.4	+	7	1438	c.1279G>A	c.(1279-1281)Gtt>Att	p.V427I	AGBL5_ENST00000323064.8_Missense_Mutation_p.V427I|RP11-503P10.1_ENST00000607407.1_RNA	NM_021831.5	NP_068603.4	Q8NDL9	CBPC5_HUMAN	ATP/GTP binding protein-like 5	427					protein branching point deglutamylation (GO:0035611)|protein deglutamylation (GO:0035608)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	metallocarboxypeptidase activity (GO:0004181)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(5)|lung(8)|ovary(3)|pancreas(1)|prostate(2)|skin(1)	28	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AGAGAGTGGCGTTGCTTACTA	0.527																																																	0													186.0	184.0	185.0					2																	27278920		2203	4300	6503	SO:0001583	missense	60509			BC007415	CCDS1732.3, CCDS42665.1	2p23.3	2014-06-23			ENSG00000084693	ENSG00000084693			26147	protein-coding gene	gene with protein product	"""cytosolic carboxypeptidase 5"""	615900				24022482	Standard	NM_001035507		Approved	FLJ21839, CCP5	uc002rie.3	Q8NDL9	OTTHUMG00000128406	ENST00000360131.4:c.1279G>A	2.37:g.27278920G>A	ENSP00000353249:p.Val427Ile	Somatic		WXS	Illumina HiSeq	Phase_IV	A2VDI7|B7WPG9|B7Z7I7|D6W548|Q53SW0|Q53SZ0|Q96IK8|Q9H6V0|Q9H8P8	Missense_Mutation	SNP	pfam_Peptidase_M14	p.V427I	ENST00000360131.4	37	c.1279	CCDS1732.3	2	.	.	.	.	.	.	.	.	.	.	G	16.14	3.039049	0.55003	.	.	ENSG00000084693	ENST00000323064;ENST00000360131	T;T	0.32272	1.46;1.46	5.88	5.88	0.94601	.	0.108710	0.64402	D	0.000006	T	0.20536	0.0494	N	0.19112	0.55	0.40724	D	0.982688	P;P;P	0.45240	0.854;0.699;0.699	B;B;B	0.42959	0.403;0.102;0.102	T	0.02464	-1.1155	10	0.27082	T	0.32	-2.954	9.017	0.36175	0.0782:0.1946:0.7272:0.0	.	427;427;427	Q8NDL9;Q8NDL9-3;Q8NDL9-2	CBPC5_HUMAN;.;.	I	427	ENSP00000323681:V427I;ENSP00000353249:V427I	ENSP00000323681:V427I	V	+	1	0	AGBL5	27132424	1.000000	0.71417	0.951000	0.38953	0.920000	0.55202	3.672000	0.54583	2.791000	0.96007	0.491000	0.48974	GTT	AGBL5	-	NULL		0.527	AGBL5-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AGBL5	HGNC	protein_coding	OTTHUMT00000309033.1	G	NM_021831		27278920	+1	no_errors	ENST00000360131	ensembl	human	known	70_37	missense	SNP	0.994	A
AGFG1	3267	genome.wustl.edu	37	2	228398274	228398274	+	Missense_Mutation	SNP	C	C	A			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr2:228398274C>A	ENST00000310078.8	+	7	1084	c.824C>A	c.(823-825)gCt>gAt	p.A275D	AGFG1_ENST00000409171.1_Missense_Mutation_p.A275D|AGFG1_ENST00000409979.2_Missense_Mutation_p.A299D|AGFG1_ENST00000373671.3_Missense_Mutation_p.A235D|AGFG1_ENST00000409315.1_Missense_Mutation_p.A275D	NM_001135188.1|NM_001135189.1|NM_004504.4	NP_001128660.1|NP_001128661.1|NP_004495.2	P52594	AGFG1_HUMAN	ArfGAP with FG repeats 1	275					cell differentiation (GO:0030154)|mRNA export from nucleus (GO:0006406)|multicellular organismal development (GO:0007275)|regulation of ARF GTPase activity (GO:0032312)|spermatogenesis (GO:0007283)	cytoplasmic vesicle (GO:0031410)|intracellular membrane-bounded organelle (GO:0043231)|nuclear pore (GO:0005643)	ARF GTPase activator activity (GO:0008060)|DNA binding (GO:0003677)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|large_intestine(5)|liver(2)|lung(2)|ovary(1)|prostate(1)|skin(4)|stomach(1)	18						GGTGGAAGTGCTGCATCAGTA	0.373																																																	0													82.0	78.0	79.0					2																	228398274		2203	4300	6503	SO:0001583	missense	3267				CCDS2467.1, CCDS46533.1, CCDS46534.1, CCDS46535.1	2q36	2009-11-30	2008-09-22	2008-09-22	ENSG00000173744	ENSG00000173744		"""ADP-ribosylation factor GTPase activating proteins"""	5175	protein-coding gene	gene with protein product		600862	"""HIV-1 Rev binding protein"""	HRB		7637788	Standard	NM_004504		Approved	RIP, RAB	uc002vpd.2	P52594	OTTHUMG00000133186	ENST00000310078.8:c.824C>A	2.37:g.228398274C>A	ENSP00000312059:p.Ala275Asp	Somatic		WXS	Illumina HiSeq	Phase_IV	B3KUL1|E9PHX7|Q15277|Q4VAS0|Q4VAS1|Q4VAS3|Q53QT8|Q53R11	Missense_Mutation	SNP	pfam_ArfGAP,smart_ArfGAP,pfscan_ArfGAP,prints_ArfGAP	p.A299D	ENST00000310078.8	37	c.896	CCDS2467.1	2	.	.	.	.	.	.	.	.	.	.	C	14.85	2.658115	0.47467	.	.	ENSG00000173744	ENST00000409979;ENST00000542592;ENST00000310078;ENST00000409315;ENST00000373671;ENST00000409171;ENST00000456594	T;T;T;T;T	0.30448	1.53;1.75;1.88;1.84;1.75	5.14	3.04	0.35103	.	0.279103	0.32852	N	0.005579	T	0.17450	0.0419	N	0.22421	0.69	0.43683	D	0.996123	B;B;B;B	0.27559	0.056;0.018;0.181;0.01	B;B;B;B	0.21360	0.03;0.034;0.03;0.015	T	0.05920	-1.0856	10	0.21540	T	0.41	.	10.5796	0.45248	0.0:0.7781:0.1384:0.0835	.	235;275;299;275	P52594-2;P52594-3;E9PHX7;P52594	.;.;.;AGFG1_HUMAN	D	299;284;275;275;235;275;197	ENSP00000387282:A299D;ENSP00000312059:A275D;ENSP00000387154:A275D;ENSP00000362775:A235D;ENSP00000387218:A275D	ENSP00000312059:A275D	A	+	2	0	AGFG1	228106518	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.699000	0.54778	2.395000	0.81488	0.655000	0.94253	GCT	AGFG1	-	NULL		0.373	AGFG1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AGFG1	HGNC	protein_coding	OTTHUMT00000256895.2	C	NM_004504		228398274	+1	no_errors	ENST00000409979	ensembl	human	known	70_37	missense	SNP	1.000	A
AGPAT9	84803	genome.wustl.edu	37	4	84519211	84519211	+	Missense_Mutation	SNP	C	C	T			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr4:84519211C>T	ENST00000395226.2	+	11	1222	c.1004C>T	c.(1003-1005)cCt>cTt	p.P335L	AGPAT9_ENST00000264409.4_Missense_Mutation_p.P335L	NM_001256421.1	NP_001243350.1	Q53EU6	GPAT3_HUMAN	1-acylglycerol-3-phosphate O-acyltransferase 9	335					CDP-diacylglycerol biosynthetic process (GO:0016024)|cellular lipid metabolic process (GO:0044255)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidic acid biosynthetic process (GO:0006654)|phospholipid metabolic process (GO:0006644)|regulation of TOR signaling (GO:0032006)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	1-acylglycerol-3-phosphate O-acyltransferase activity (GO:0003841)|glycerol-3-phosphate O-acyltransferase activity (GO:0004366)			endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|skin(3)	13		Hepatocellular(203;0.114)				CAGTATAACCCTCAGTTCGGT	0.428																																																	0													114.0	109.0	111.0					4																	84519211		2203	4300	6503	SO:0001583	missense	84803			AK055749	CCDS3606.1	4q21.23	2014-02-13	2008-01-29		ENSG00000138678	ENSG00000138678	2.3.1.15	"""1-acylglycerol-3-phosphate O-acyltransferases"""	28157	protein-coding gene	gene with protein product	"""lysophosphatidic acid acyltransferase, theta"""	610958	"""1-acylglycerol-3-phosphate O-acyltransferase 9 (lysophosphatidic acid acyltransferase, theta)"""			12975309	Standard	NM_001256421		Approved	MGC11324, LPAAT-theta, MAG1, HMFN0839	uc003how.4	Q53EU6	OTTHUMG00000130431	ENST00000395226.2:c.1004C>T	4.37:g.84519211C>T	ENSP00000378651:p.Pro335Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	Q68CJ4|Q6GPI6|Q96NA3	Missense_Mutation	SNP	pfam_Plipid/glycerol_acylTrfase,smart_Plipid/glycerol_acylTrfase	p.P335L	ENST00000395226.2	37	c.1004	CCDS3606.1	4	.	.	.	.	.	.	.	.	.	.	C	26.1	4.701581	0.88924	.	.	ENSG00000138678	ENST00000395226;ENST00000264409	D;D	0.93076	-3.16;-3.16	5.62	5.62	0.85841	.	0.000000	0.85682	D	0.000000	D	0.96546	0.8873	M	0.77103	2.36	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.94822	0.7988	10	0.24483	T	0.36	-14.3745	19.6718	0.95914	0.0:1.0:0.0:0.0	.	335	Q53EU6	GPAT3_HUMAN	L	335	ENSP00000378651:P335L;ENSP00000264409:P335L	ENSP00000264409:P335L	P	+	2	0	AGPAT9	84738235	1.000000	0.71417	1.000000	0.80357	0.752000	0.42762	4.844000	0.62846	2.639000	0.89480	0.557000	0.71058	CCT	AGPAT9	-	NULL		0.428	AGPAT9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AGPAT9	HGNC	protein_coding	OTTHUMT00000252821.3	C	NM_032717		84519211	+1	no_errors	ENST00000264409	ensembl	human	known	70_37	missense	SNP	1.000	T
AGT	183	genome.wustl.edu	37	1	230846470	230846470	+	Missense_Mutation	SNP	G	G	A	rs41271499		TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr1:230846470G>A	ENST00000366667.4	-	2	341	c.127C>T	c.(127-129)Ctc>Ttc	p.L43F	RP11-99J16__A.2_ENST00000412344.1_RNA	NM_000029.3	NP_000020.1	P01019	ANGT_HUMAN	angiotensinogen (serpin peptidase inhibitor, clade A, member 8)	43			L -> F (associated with susceptibility to pre-eclampsia; alters the reactions with renin and angiotensin-converting enzyme; dbSNP:rs41271499). {ECO:0000269|PubMed:7744780}.		activation of NF-kappaB-inducing kinase activity (GO:0007250)|activation of phospholipase C activity (GO:0007202)|aging (GO:0007568)|angiotensin maturation (GO:0002003)|angiotensin mediated vasoconstriction involved in regulation of systemic arterial blood pressure (GO:0001998)|angiotensin-mediated drinking behavior (GO:0003051)|artery smooth muscle contraction (GO:0014824)|astrocyte activation (GO:0048143)|blood vessel development (GO:0001568)|blood vessel remodeling (GO:0001974)|branching involved in ureteric bud morphogenesis (GO:0001658)|catenin import into nucleus (GO:0035411)|cell growth involved in cardiac muscle cell development (GO:0061049)|cell-cell signaling (GO:0007267)|cell-matrix adhesion (GO:0007160)|cellular lipid metabolic process (GO:0044255)|cellular protein metabolic process (GO:0044267)|cellular response to mechanical stimulus (GO:0071260)|cellular sodium ion homeostasis (GO:0006883)|cytokine secretion (GO:0050663)|ERK1 and ERK2 cascade (GO:0070371)|establishment of blood-nerve barrier (GO:0008065)|excretion (GO:0007588)|extracellular matrix organization (GO:0030198)|fibroblast proliferation (GO:0048144)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger (GO:0007199)|kidney development (GO:0001822)|low-density lipoprotein particle remodeling (GO:0034374)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of neurotrophin TRK receptor signaling pathway (GO:0051387)|negative regulation of sodium ion transmembrane transporter activity (GO:2000650)|negative regulation of tissue remodeling (GO:0034104)|nitric oxide mediated signal transduction (GO:0007263)|ovarian follicle rupture (GO:0001543)|peristalsis (GO:0030432)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of activation of JAK2 kinase activity (GO:0010535)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of cardiac muscle hypertrophy (GO:0010613)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of cholesterol esterification (GO:0010873)|positive regulation of cytokine production (GO:0001819)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of epidermal growth factor receptor signaling pathway (GO:0045742)|positive regulation of extracellular matrix constituent secretion (GO:0003331)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of fatty acid biosynthetic process (GO:0045723)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of inflammatory response (GO:0050729)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of NAD(P)H oxidase activity (GO:0033864)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of organ growth (GO:0046622)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of superoxide anion generation (GO:0032930)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of blood vessel size by renin-angiotensin (GO:0002034)|regulation of blood volume by renin-angiotensin (GO:0002016)|regulation of calcium ion transport (GO:0051924)|regulation of cell growth (GO:0001558)|regulation of cell proliferation (GO:0042127)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of norepinephrine secretion (GO:0014061)|regulation of proteolysis (GO:0030162)|regulation of renal output by angiotensin (GO:0002019)|regulation of renal sodium excretion (GO:0035813)|regulation of vasoconstriction (GO:0019229)|renal response to blood flow involved in circulatory renin-angiotensin regulation of systemic arterial blood pressure (GO:0001999)|renal system process (GO:0003014)|renin-angiotensin regulation of aldosterone production (GO:0002018)|response to cold (GO:0009409)|response to muscle activity involved in regulation of muscle adaptation (GO:0014873)|response to salt stress (GO:0009651)|small molecule metabolic process (GO:0044281)|smooth muscle cell differentiation (GO:0051145)|smooth muscle cell proliferation (GO:0048659)|stress-activated MAPK cascade (GO:0051403)|uterine smooth muscle contraction (GO:0070471)|vasodilation (GO:0042311)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	growth factor activity (GO:0008083)|hormone activity (GO:0005179)|serine-type endopeptidase inhibitor activity (GO:0004867)|superoxide-generating NADPH oxidase activator activity (GO:0016176)|type 1 angiotensin receptor binding (GO:0031702)|type 2 angiotensin receptor binding (GO:0031703)			endometrium(5)|kidney(1)|large_intestine(6)|lung(7)|pancreas(1)|prostate(5)	25	Breast(184;0.0735)|Ovarian(103;0.183)	all_cancers(173;4.64e-23)|all_epithelial(177;3.61e-18)|Breast(1374;0.00093)|all_neural(198;0.0604)|Prostate(94;0.167)		GBM - Glioblastoma multiforme(131;4.4e-06)|Colorectal(1306;5.46e-06)|COAD - Colon adenocarcinoma(196;0.000256)|KIRC - Kidney renal clear cell carcinoma(1967;0.00258)		TGGATGACGAGGTGGAAGGGG	0.612													G|||	1	0.000199681	0.0	0.0	5008	,	,		17490	0.0		0.0	False		,,,				2504	0.001																0			GRCh37	CM950018	AGT	M	rs41271499	G	PHE/LEU	3,4403	6.2+/-15.9	0,3,2200	79.0	75.0	76.0		127	2.4	1.0	1	dbSNP_127	76	6,8594	4.3+/-15.6	0,6,4294	yes	missense	AGT	NM_000029.3	22	0,9,6494	AA,AG,GG		0.0698,0.0681,0.0692	probably-damaging	43/486	230846470	9,12997	2203	4300	6503	SO:0001583	missense	183			K02215	CCDS1585.1	1q42.2	2014-02-18	2005-08-18	2001-06-29	ENSG00000135744	ENSG00000135744		"""Serine (or cysteine) peptidase inhibitors"", ""Endogenous ligands"""	333	protein-coding gene	gene with protein product	"""alpha-1 antiproteinase, antitrypsin"""	106150		SERPINA8		6089875, 24172014	Standard	NM_000029		Approved		uc001hty.4	P01019	OTTHUMG00000037757	ENST00000366667.4:c.127C>T	1.37:g.230846470G>A	ENSP00000355627:p.Leu43Phe	Somatic		WXS	Illumina HiSeq	Phase_IV	Q16358|Q16359|Q96F91	Missense_Mutation	SNP	pfam_Serpin_dom,superfamily_Serpin_dom,smart_Serpin_dom,prints_Angiotensngn	p.L43F	ENST00000366667.4	37	c.127	CCDS1585.1	1	.	.	.	.	.	.	.	.	.	.	G	16.09	3.023752	0.54683	6.81E-4	6.98E-4	ENSG00000135744	ENST00000366667;ENST00000430091	D	0.88664	-2.41	5.37	2.42	0.29668	.	0.150858	0.43919	D	0.000502	D	0.87830	0.6276	L	0.56769	1.78	0.58432	D	0.999995	P;D;P	0.71674	0.927;0.998;0.927	B;P;B	0.51016	0.254;0.656;0.254	D	0.85946	0.1461	10	0.87932	D	0	.	6.362	0.21433	0.213:0.0:0.6469:0.1402	rs41271499	43;43;43	B0ZBE2;B2R5S1;P01019	.;.;ANGT_HUMAN	F	43	ENSP00000355627:L43F	ENSP00000355627:L43F	L	-	1	0	AGT	228913093	1.000000	0.71417	0.998000	0.56505	0.579000	0.36224	0.588000	0.23924	0.729000	0.32403	0.561000	0.74099	CTC	AGT	-	prints_Angiotensngn		0.612	AGT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AGT	HGNC	protein_coding	OTTHUMT00000092102.1	G	NM_000029		230846470	-1	no_errors	ENST00000366667	ensembl	human	known	70_37	missense	SNP	0.998	A
AHCYL2	23382	genome.wustl.edu	37	7	129029479	129029479	+	Missense_Mutation	SNP	G	G	A			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr7:129029479G>A	ENST00000325006.3	+	4	678	c.624G>A	c.(622-624)atG>atA	p.M208I	AHCYL2_ENST00000472554.1_3'UTR|AHCYL2_ENST00000474594.1_Missense_Mutation_p.M105I|AHCYL2_ENST00000490911.1_Missense_Mutation_p.M105I|AHCYL2_ENST00000531335.2_Missense_Mutation_p.M127I|AHCYL2_ENST00000446544.2_Missense_Mutation_p.M207I|AHCYL2_ENST00000446212.1_Missense_Mutation_p.M106I	NM_001130720.2|NM_015328.3	NP_001124192.1|NP_056143.1	Q96HN2	SAHH3_HUMAN	adenosylhomocysteinase-like 2	208					one-carbon metabolic process (GO:0006730)		adenosylhomocysteinase activity (GO:0004013)			breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	22						TTTCAGAAATGCCTGCATTGA	0.398																																					Pancreas(160;1736 1964 29875 40941 45605)												0													58.0	61.0	60.0					7																	129029479		2203	4300	6503	SO:0001583	missense	23382			AB020635	CCDS5812.1, CCDS47706.1, CCDS47707.1, CCDS47708.1, CCDS47707.2	7q32.1	2009-06-12	2009-06-12		ENSG00000158467	ENSG00000158467			22204	protein-coding gene	gene with protein product			"""S-adenosylhomocysteine hydrolase-like 2"""				Standard	NM_001130720		Approved	KIAA0828	uc011kov.2	Q96HN2	OTTHUMG00000157677	ENST00000325006.3:c.624G>A	7.37:g.129029479G>A	ENSP00000315931:p.Met208Ile	Somatic		WXS	Illumina HiSeq	Phase_IV	B4DIZ5|D9N155|O94917	Missense_Mutation	SNP	pfam_Adenosylhomocysteinase,pfam_Ado_hCys_hydrolase_NAD-bd,pfam_D-isomer_2_OHA_DH_NAD-bd,tigrfam_Adenosylhomocysteinase	p.M208I	ENST00000325006.3	37	c.624	CCDS5812.1	7	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	24.3|24.3	4.521581|4.521581	0.85600|0.85600	.|.	.|.	ENSG00000158467|ENSG00000158467	ENST00000466924|ENST00000325006;ENST00000446544;ENST00000531335;ENST00000474594;ENST00000446212;ENST00000490911;ENST00000466993	.|T;T;T;T;T;T;T	.|0.80480	.|-1.38;-1.38;-1.38;-1.38;-1.38;-1.38;-1.38	5.55|5.55	5.55|5.55	0.83447|0.83447	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.94460|0.94460	0.8217|0.8217	H|H	0.99058|0.99058	4.415|4.415	0.58432|0.58432	D|D	0.999994|0.999994	.|D;D;D;D;D	.|0.76494	.|0.999;0.999;0.999;0.999;0.999	.|D;D;D;D;D	.|0.91635	.|0.999;0.999;0.999;0.999;0.998	D|D	0.96353|0.96353	0.9260|0.9260	5|10	.|0.87932	.|D	.|0	-26.8005|-26.8005	18.8499|18.8499	0.92224|0.92224	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|105;106;208;105;207	.|B4DIZ5;D7UEQ7;Q96HN2;D9N155;Q96HN2-2	.|.;.;SAHH3_HUMAN;.;.	Y|I	115|208;207;127;105;106;105;106	.|ENSP00000315931:M208I;ENSP00000413639:M207I;ENSP00000431787:M127I;ENSP00000420459:M105I;ENSP00000405267:M106I;ENSP00000420801:M105I;ENSP00000419608:M106I	.|ENSP00000315931:M208I	C|M	+|+	2|3	0|0	AHCYL2|AHCYL2	128816715|128816715	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.992000|0.992000	0.81027|0.81027	7.976000|7.976000	0.88070|0.88070	2.770000|2.770000	0.95276|0.95276	0.563000|0.563000	0.77884|0.77884	TGC|ATG	AHCYL2	-	pfam_Adenosylhomocysteinase,tigrfam_Adenosylhomocysteinase		0.398	AHCYL2-012	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AHCYL2	HGNC	protein_coding	OTTHUMT00000354065.1	G			129029479	+1	no_errors	ENST00000325006	ensembl	human	known	70_37	missense	SNP	1.000	A
AHRR	57491	genome.wustl.edu	37	5	434786	434786	+	Missense_Mutation	SNP	G	G	A			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr5:434786G>A	ENST00000505113.1	+	11	1987	c.1943G>A	c.(1942-1944)tGc>tAc	p.C648Y	AHRR_ENST00000512529.1_Missense_Mutation_p.C494Y|AHRR_ENST00000506456.1_Missense_Mutation_p.C504Y|AHRR_ENST00000316418.5_Missense_Mutation_p.C666Y	NM_001242412.1	NP_001229341.1	A9YTQ3	AHRR_HUMAN	aryl-hydrocarbon receptor repressor	648	Needed for transcriptional repression. {ECO:0000250}.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of protein sumoylation (GO:0033235)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|signal transducer activity (GO:0004871)			breast(2)|endometrium(4)|large_intestine(1)|lung(12)|prostate(1)	20			Epithelial(17;0.0011)|OV - Ovarian serous cystadenocarcinoma(19;0.00353)|all cancers(22;0.00354)|Lung(60;0.0863)			GAACAGTCCTGCACCTGCAGA	0.667																																																	0													15.0	20.0	18.0					5																	434786		1971	4127	6098	SO:0001583	missense	57491			AB033060	CCDS43297.1, CCDS56355.1	5p15.33	2013-05-21	2003-09-11	2003-09-12	ENSG00000063438	ENSG00000063438		"""Basic helix-loop-helix proteins"""	346	protein-coding gene	gene with protein product		606517	"""aryl hydrocarbon receptor regulator"""	AHH, AHHR		1070014, 11423533	Standard	NM_020731		Approved	KIAA1234, bHLHe77	uc003jaw.3	A9YTQ3	OTTHUMG00000162171	ENST00000505113.1:c.1943G>A	5.37:g.434786G>A	ENSP00000424601:p.Cys648Tyr	Somatic		WXS	Illumina HiSeq	Phase_IV	A7MBN5|D6RAZ1|Q9HAZ3|Q9ULI6	Missense_Mutation	SNP	pfam_PAS_fold,pfam_HLH_dom,superfamily_HLH_dom,smart_HLH_dom,smart_PAS,pfscan_PAS,pfscan_HLH_dom	p.C666Y	ENST00000505113.1	37	c.1997	CCDS56355.1	5	.	.	.	.	.	.	.	.	.	.	G	13.17	2.157597	0.38119	.	.	ENSG00000063438	ENST00000505113;ENST00000316418;ENST00000512529;ENST00000506456	T;T;T;T	0.24151	2.19;2.19;1.88;1.87	4.23	0.0628	0.14346	.	1.987320	0.02199	N	0.062129	T	0.32346	0.0826	L	0.32530	0.975	0.09310	N	1	B;D;D	0.71674	0.041;0.99;0.998	B;P;D	0.64877	0.015;0.797;0.93	T	0.49031	-0.8981	10	0.02654	T	1	.	7.6267	0.28216	0.4219:0.0:0.5781:0.0	.	504;648;666	D6RE68;A9YTQ3;A9YTQ3-2	.;AHRR_HUMAN;.	Y	648;666;494;504	ENSP00000424601:C648Y;ENSP00000323816:C666Y;ENSP00000424880:C494Y;ENSP00000426932:C504Y	ENSP00000323816:C666Y	C	+	2	0	AHRR	487786	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-0.020000	0.12525	-0.251000	0.09542	0.561000	0.74099	TGC	AHRR	-	NULL		0.667	AHRR-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	AHRR	HGNC	protein_coding	OTTHUMT00000367720.1	G	NM_020731		434786	+1	no_errors	ENST00000316418	ensembl	human	known	70_37	missense	SNP	0.000	A
AIDA	64853	genome.wustl.edu	37	1	222846664	222846664	+	Missense_Mutation	SNP	A	A	T			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr1:222846664A>T	ENST00000340020.6	-	8	903	c.697T>A	c.(697-699)Tta>Ata	p.L233I	AIDA_ENST00000355727.2_Intron|AIDA_ENST00000541237.1_Missense_Mutation_p.L209I|AIDA_ENST00000474863.1_5'UTR	NM_022831.2	NP_073742.2	Q96BJ3	AIDA_HUMAN	axin interactor, dorsalization associated	233					dorsal/ventral pattern formation (GO:0009953)|negative regulation of JNK cascade (GO:0046329)|negative regulation of JUN kinase activity (GO:0043508)|regulation of protein homodimerization activity (GO:0043496)	cytoplasm (GO:0005737)		p.L233L(1)		kidney(2)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	10						CCTTTGGTTAATTTTTCAACA	0.348																																																	1	Substitution - coding silent(1)	large_intestine(1)											66.0	64.0	65.0					1																	222846664		2203	4299	6502	SO:0001583	missense	64853			BC043142	CCDS1533.1	1q41	2008-05-22	2008-05-22	2008-05-22	ENSG00000186063	ENSG00000186063			25761	protein-coding gene	gene with protein product	"""axin interaction partner and dorsalization antagonist"""	612375	"""chromosome 1 open reading frame 80"""	C1orf80		8619474, 9110174, 17681137	Standard	NM_022831		Approved	FLJ12806	uc001hnn.3	Q96BJ3	OTTHUMG00000037653	ENST00000340020.6:c.697T>A	1.37:g.222846664A>T	ENSP00000339161:p.Leu233Ile	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K1F0|Q49A81|Q5JRA4|Q658P1|Q9H9E8	Missense_Mutation	SNP	pfam_AIDA,superfamily_AIDA_N	p.L233I	ENST00000340020.6	37	c.697	CCDS1533.1	1	.	.	.	.	.	.	.	.	.	.	A	20.5	4.007791	0.75046	.	.	ENSG00000186063	ENST00000340020;ENST00000541237	.	.	.	5.85	3.55	0.40652	.	0.065362	0.64402	D	0.000006	T	0.58278	0.2111	M	0.63843	1.955	0.50039	D	0.999844	B;B	0.23249	0.082;0.037	B;B	0.29267	0.061;0.1	T	0.55360	-0.8153	9	0.62326	D	0.03	.	8.1536	0.31156	0.689:0.0:0.311:0.0	.	209;233	F5H715;Q96BJ3	.;AIDA_HUMAN	I	233;209	.	ENSP00000339161:L233I	L	-	1	2	AIDA	220913287	1.000000	0.71417	0.997000	0.53966	0.983000	0.72400	1.195000	0.32186	0.489000	0.27749	0.460000	0.39030	TTA	AIDA	-	pfam_AIDA		0.348	AIDA-001	NOVEL	basic|appris_principal|CCDS	protein_coding	AIDA	HGNC	protein_coding	OTTHUMT00000091818.1	A	NM_022831		222846664	-1	no_errors	ENST00000340020	ensembl	human	known	70_37	missense	SNP	1.000	T
AKAP11	11215	genome.wustl.edu	37	13	42877896	42877896	+	Missense_Mutation	SNP	G	G	A			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr13:42877896G>A	ENST00000025301.2	+	8	5189	c.5014G>A	c.(5014-5016)Gca>Aca	p.A1672T		NM_016248.3	NP_057332.1	Q9UKA4	AKA11_HUMAN	A kinase (PRKA) anchor protein 11	1672					intracellular signal transduction (GO:0035556)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	protein kinase A binding (GO:0051018)|protein phosphatase 1 binding (GO:0008157)			breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(2)	56		Lung NSC(96;1.86e-05)|Prostate(109;0.0165)|Lung SC(185;0.0262)|Breast(139;0.0707)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;0.000365)|GBM - Glioblastoma multiforme(144;0.00116)|BRCA - Breast invasive adenocarcinoma(63;0.19)		TACCAGCCTGGCAGCCGACAG	0.502																																																	0													36.0	35.0	35.0					13																	42877896		2203	4300	6503	SO:0001583	missense	11215			AB014529	CCDS9383.1	13q	2012-04-17			ENSG00000023516	ENSG00000023516		"""A-kinase anchor proteins"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	369	protein-coding gene	gene with protein product	"""AKAP 220"", ""A-kinase anchoring protein, 220kDa"", ""protein kinase A anchoring protein 11"", ""protein phosphatase 1, regulatory subunit 44"""	604696				9734811, 8621616	Standard	NM_016248		Approved	KIAA0629, AKAP220, PRKA11, FLJ11304, DKFZp781I12161, PPP1R44	uc001uys.2	Q9UKA4	OTTHUMG00000016805	ENST00000025301.2:c.5014G>A	13.37:g.42877896G>A	ENSP00000025301:p.Ala1672Thr	Somatic		WXS	Illumina HiSeq	Phase_IV	O75124|Q9NUK7	Missense_Mutation	SNP	NULL	p.A1672T	ENST00000025301.2	37	c.5014	CCDS9383.1	13	.	.	.	.	.	.	.	.	.	.	G	9.275	1.046615	0.19748	.	.	ENSG00000023516	ENST00000025301	T	0.52526	0.66	5.67	4.82	0.62117	.	0.268311	0.36409	N	0.002606	T	0.40094	0.1103	L	0.52364	1.645	0.30256	N	0.793659	B	0.30281	0.275	B	0.30495	0.116	T	0.35847	-0.9772	10	0.25106	T	0.35	.	10.8667	0.46860	0.1693:0.0:0.8307:0.0	.	1672	Q9UKA4	AKA11_HUMAN	T	1672	ENSP00000025301:A1672T	ENSP00000025301:A1672T	A	+	1	0	AKAP11	41775896	1.000000	0.71417	0.997000	0.53966	0.612000	0.37316	1.925000	0.40074	2.658000	0.90341	0.591000	0.81541	GCA	AKAP11	-	NULL		0.502	AKAP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AKAP11	HGNC	protein_coding	OTTHUMT00000044700.2	G	NM_016248		42877896	+1	no_errors	ENST00000025301	ensembl	human	known	70_37	missense	SNP	1.000	A
AKAP12	9590	genome.wustl.edu	37	6	151674287	151674287	+	Missense_Mutation	SNP	C	C	A			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr6:151674287C>A	ENST00000253332.1	+	3	4950	c.4761C>A	c.(4759-4761)agC>agA	p.S1587R	AKAP12_ENST00000402676.2_Missense_Mutation_p.S1587R|AKAP12_ENST00000354675.6_Missense_Mutation_p.S1489R|AKAP12_ENST00000359755.5_Missense_Mutation_p.S1482R			Q02952	AKA12_HUMAN	A kinase (PRKA) anchor protein 12	1587					G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of protein kinase A signaling (GO:0010739)|protein targeting (GO:0006605)|regulation of protein kinase C signaling (GO:0090036)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)	adenylate cyclase binding (GO:0008179)|protein kinase A binding (GO:0051018)			breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(22)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	68		Ovarian(120;0.125)	BRCA - Breast invasive adenocarcinoma(37;0.175)	OV - Ovarian serous cystadenocarcinoma(155;2.98e-11)		AAGCTGACAGCCAGGACGCTG	0.493																																					Melanoma(141;1616 1805 10049 24534 51979)												0													78.0	78.0	78.0					6																	151674287		2203	4300	6503	SO:0001583	missense	9590			U81607	CCDS5229.1, CCDS5230.1	6q24-q25	2011-07-01	2008-08-29		ENSG00000131016	ENSG00000131016		"""A-kinase anchor proteins"""	370	protein-coding gene	gene with protein product	"""gravin"", ""Src-Suppressed C Kinase Substrate"""	604698	"""A kinase (PRKA) anchor protein (gravin) 12"""			9000000	Standard	NM_144497		Approved	AKAP250, SSeCKS	uc011eep.2	Q02952	OTTHUMG00000015833	ENST00000253332.1:c.4761C>A	6.37:g.151674287C>A	ENSP00000253332:p.Ser1587Arg	Somatic		WXS	Illumina HiSeq	Phase_IV	O00310|O00498|Q4LE68|Q5SZ80|Q5TGN1|Q68D82|Q99970	Missense_Mutation	SNP	pfam_Pkinase-A_anch_WSK-motif,pfam_RII_binding_1	p.S1587R	ENST00000253332.1	37	c.4761	CCDS5229.1	6	.	.	.	.	.	.	.	.	.	.	C	10.38	1.334206	0.24253	.	.	ENSG00000131016	ENST00000402676;ENST00000253332;ENST00000354675;ENST00000359755	T;T;T;T	0.09073	3.02;3.02;3.04;3.04	5.01	0.967	0.19674	.	1.745430	0.03199	N	0.174536	T	0.02119	0.0066	L	0.29908	0.895	0.09310	N	1	B;B;B	0.27625	0.178;0.178;0.183	B;B;B	0.30495	0.116;0.072;0.054	T	0.44772	-0.9306	10	0.25751	T	0.34	.	5.7879	0.18343	0.0:0.463:0.2453:0.2918	.	1482;1489;1587	Q02952-3;Q02952-2;Q02952	.;.;AKA12_HUMAN	R	1587;1587;1489;1482	ENSP00000384537:S1587R;ENSP00000253332:S1587R;ENSP00000346702:S1489R;ENSP00000352794:S1482R	ENSP00000253332:S1587R	S	+	3	2	AKAP12	151715980	0.113000	0.22115	0.002000	0.10522	0.001000	0.01503	0.608000	0.24223	0.247000	0.21414	-0.889000	0.02933	AGC	AKAP12	-	NULL		0.493	AKAP12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AKAP12	HGNC	protein_coding	OTTHUMT00000042712.1	C			151674287	+1	no_errors	ENST00000253332	ensembl	human	known	70_37	missense	SNP	0.000	A
AKAP9	10142	genome.wustl.edu	37	7	91631813	91631813	+	Missense_Mutation	SNP	A	A	T			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr7:91631813A>T	ENST00000359028.2	+	9	2843	c.2618A>T	c.(2617-2619)tAt>tTt	p.Y873F	AKAP9_ENST00000356239.3_Missense_Mutation_p.Y861F|AKAP9_ENST00000358100.2_Missense_Mutation_p.Y873F			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	873	Glu-rich.				G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|Sertoli cell development (GO:0060009)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)|synaptic transmission (GO:0007268)|transport (GO:0006810)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|pericentriolar material (GO:0000242)|voltage-gated potassium channel complex (GO:0008076)	ion channel binding (GO:0044325)|protein complex scaffold (GO:0032947)|receptor binding (GO:0005102)			NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			GAAGTTAACTATCAAGAGTTA	0.299			T	BRAF	papillary thyroid																																			Dom	yes		7	7q21-q22	10142	A kinase (PRKA) anchor protein (yotiao) 9		E	0													50.0	55.0	53.0					7																	91631813		2201	4294	6495	SO:0001583	missense	10142			AF091711	CCDS5622.1	7q21-q22	2014-09-17	2013-09-25		ENSG00000127914	ENSG00000127914		"""A-kinase anchor proteins"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	379	protein-coding gene	gene with protein product	"""A-kinase anchoring protein 450"", ""AKAP9-BRAF fusion protein"", ""AKAP120-like protein"", ""centrosome- and golgi-localized protein kinase N-associated protein"", ""protein kinase A anchoring protein 9"", ""A-kinase anchor protein, 350kDa"", ""protein phosphatase 1, regulatory subunit 45"", ""yotiao"""	604001				9482789, 10390370, 24475373	Standard	NM_147185		Approved	KIAA0803, AKAP350, AKAP450, CG-NAP, YOTIAO, HYPERION, PRKA9, MU-RMS-40.16A, PPP1R45, LQT11	uc003ulg.3	Q99996	OTTHUMG00000131127	ENST00000359028.2:c.2618A>T	7.37:g.91631813A>T	ENSP00000351922:p.Tyr873Phe	Somatic		WXS	Illumina HiSeq	Phase_IV	A4D1F0|A4D1F2|A4D1F4|O14869|O43355|O94895|Q75N20|Q9UQH3|Q9UQQ4|Q9Y6B8|Q9Y6Y2	Missense_Mutation	SNP	pfam_PACT_domain,superfamily_Prefoldin,superfamily_YbaB-like	p.Y873F	ENST00000359028.2	37	c.2618		7	.	.	.	.	.	.	.	.	.	.	A	12.78	2.039615	0.35989	.	.	ENSG00000127914	ENST00000356239;ENST00000359028;ENST00000358100;ENST00000413120;ENST00000394565	T;T;T	0.05996	3.4;3.39;3.36	5.77	5.77	0.91146	.	0.000000	0.37809	N	0.001932	T	0.13030	0.0316	L	0.56769	1.78	0.37789	D	0.927308	P;P;P;P	0.48350	0.473;0.663;0.859;0.909	B;B;B;P	0.49421	0.157;0.372;0.435;0.61	T	0.01198	-1.1421	10	0.72032	D	0.01	.	11.4753	0.50295	0.8658:0.0:0.0:0.1342	.	873;861;861;873	Q99996;Q99996-2;Q99996-3;A4D1E4	AKAP9_HUMAN;.;.;.	F	861;873;873;873;873	ENSP00000348573:Y861F;ENSP00000351922:Y873F;ENSP00000350813:Y873F	ENSP00000348573:Y861F	Y	+	2	0	AKAP9	91469749	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.746000	0.38288	2.326000	0.78906	0.533000	0.62120	TAT	AKAP9	-	NULL		0.299	AKAP9-202	KNOWN	basic	protein_coding	AKAP9	HGNC	protein_coding		A	NM_005751		91631813	+1	no_errors	ENST00000359028	ensembl	human	known	70_37	missense	SNP	1.000	T
AKR1D1	6718	genome.wustl.edu	37	7	137791973	137791973	+	Intron	SNP	G	G	C			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr7:137791973G>C	ENST00000242375.3	+	7	731				AKR1D1_ENST00000411726.2_Intron|AKR1D1_ENST00000432161.1_Intron|AKR1D1_ENST00000468877.2_3'UTR	NM_005989.3	NP_005980.1	P51857	AK1D1_HUMAN	aldo-keto reductase family 1, member D1						androgen metabolic process (GO:0008209)|bile acid biosynthetic process (GO:0006699)|bile acid catabolic process (GO:0030573)|bile acid metabolic process (GO:0008206)|C21-steroid hormone metabolic process (GO:0008207)|cholesterol catabolic process (GO:0006707)|digestion (GO:0007586)|oxidation-reduction process (GO:0055114)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	delta4-3-oxosteroid 5beta-reductase activity (GO:0047787)|steroid binding (GO:0005496)			endometrium(1)|kidney(2)|large_intestine(1)|lung(14)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	23					Azelaic Acid(DB00548)|Finasteride(DB01216)	TGCCTTGCTTGATCTTCCCAT	0.458																																																	0													25.0	22.0	23.0					7																	137791973		876	1991	2867	SO:0001627	intron_variant	6718			Z28339	CCDS5846.1, CCDS55169.1, CCDS55170.1	7q32-q33	2012-12-04	2012-12-04		ENSG00000122787	ENSG00000122787	1.3.99.6	"""Aldo-keto reductases"""	388	protein-coding gene	gene with protein product	"""delta 4-3-ketosteroid-5-beta-reductase"""	604741	"""aldo-keto reductase family 1, member D1 (delta 4-3-ketosteroid-5-beta-reductase)"""	SRD5B1		7508385, 10343119	Standard	NM_005989		Approved		uc003vtz.3	P51857	OTTHUMG00000155787	ENST00000242375.3:c.690-188G>C	7.37:g.137791973G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	A1L4P6|A8K060|B4DPN3|B4DPN8	RNA	SNP	-	NULL	ENST00000242375.3	37	NULL	CCDS5846.1	7	.	.	.	.	.	.	.	.	.	.	G	6.104	0.387472	0.11581	.	.	ENSG00000122787	ENST00000297463	.	.	.	3.93	-0.0063	0.14014	.	.	.	.	.	T	0.37376	0.1001	.	.	.	0.09310	N	0.999998	.	.	.	.	.	.	T	0.38023	-0.9680	5	0.87932	D	0	.	4.5402	0.12054	0.2061:0.3563:0.4375:0.0	.	.	.	.	H	118	.	ENSP00000297463:D118H	D	+	1	0	AKR1D1	137442513	0.000000	0.05858	0.024000	0.17045	0.065000	0.16274	-0.224000	0.09164	-0.006000	0.14370	0.591000	0.81541	GAT	AKR1D1	-	-		0.458	AKR1D1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	AKR1D1	HGNC	protein_coding	OTTHUMT00000341637.1	G	NM_005989		137791973	+1	no_errors	ENST00000468877	ensembl	human	known	70_37	rna	SNP	0.102	C
ALAD	210	genome.wustl.edu	37	9	116153129	116153129	+	Missense_Mutation	SNP	G	G	T			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr9:116153129G>T	ENST00000409155.3	-	5	542	c.346C>A	c.(346-348)Ctg>Atg	p.L116M	ALAD_ENST00000277315.5_Missense_Mutation_p.L99M|ALAD_ENST00000482001.1_5'Flank	NM_000031.5	NP_000022.3	P13716	HEM2_HUMAN	aminolevulinate dehydratase	116					cellular response to interleukin-4 (GO:0071353)|heme biosynthetic process (GO:0006783)|porphyrin-containing compound metabolic process (GO:0006778)|protein homooligomerization (GO:0051260)|protoporphyrinogen IX biosynthetic process (GO:0006782)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	catalytic activity (GO:0003824)|identical protein binding (GO:0042802)|lead ion binding (GO:0032791)|porphobilinogen synthase activity (GO:0004655)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)|stomach(1)	9					Aminolevulinic acid(DB00855)	CAGGCCACCAGGAGGTTGGGG	0.627																																																	0													101.0	86.0	91.0					9																	116153129		2203	4300	6503	SO:0001583	missense	210			M13928	CCDS6794.2	9q32	2010-04-29	2010-04-29		ENSG00000148218	ENSG00000148218	4.2.1.24		395	protein-coding gene	gene with protein product	"""porphobilinogen synthase"""	125270	"""aminolevulinate, delta-, dehydratase"""			6839527, 6378062	Standard	NM_000031		Approved	ALADH, PBGS	uc011lxf.2	P13716	OTTHUMG00000020522	ENST00000409155.3:c.346C>A	9.37:g.116153129G>T	ENSP00000386284:p.Leu116Met	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K375|B2R6F2|Q16870|Q16871|Q9BVQ9	Missense_Mutation	SNP	pfam_Porphobilinogen_synth,pirsf_Porphobilinogen_synth,prints_Porphobilinogen_synth	p.L116M	ENST00000409155.3	37	c.346	CCDS6794.2	9	.	.	.	.	.	.	.	.	.	.	G	16.67	3.187097	0.57909	.	.	ENSG00000148218	ENST00000409155;ENST00000277315	D;D	0.88046	-2.33;-2.33	5.67	2.86	0.33363	Aldolase-type TIM barrel (1);	0.065619	0.64402	D	0.000007	D	0.91520	0.7322	M	0.77616	2.38	0.53005	D	0.999963	B;D;D	0.62365	0.445;0.98;0.991	B;D;D	0.69479	0.242;0.951;0.964	D	0.89980	0.4100	10	0.46703	T	0.11	-6.4476	9.6638	0.39972	0.219:0.0:0.781:0.0	.	116;99;145	P13716;B7Z3I9;P13716-2	HEM2_HUMAN;.;.	M	116;99	ENSP00000386284:L116M;ENSP00000277315:L99M	ENSP00000277315:L99M	L	-	1	2	ALAD	115192950	1.000000	0.71417	0.989000	0.46669	0.728000	0.41692	2.747000	0.47475	0.756000	0.33013	0.563000	0.77884	CTG	ALAD	-	pfam_Porphobilinogen_synth,pirsf_Porphobilinogen_synth		0.627	ALAD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALAD	HGNC	protein_coding	OTTHUMT00000053724.3	G	NM_001003945		116153129	-1	no_errors	ENST00000409155	ensembl	human	known	70_37	missense	SNP	0.995	T
ALAS2	212	genome.wustl.edu	37	X	55043940	55043940	+	Missense_Mutation	SNP	C	C	G			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chrX:55043940C>G	ENST00000330807.5	-	7	1119	c.982G>C	c.(982-984)Gag>Cag	p.E328Q	ALAS2_ENST00000396198.3_Missense_Mutation_p.E315Q|ALAS2_ENST00000335854.4_Missense_Mutation_p.E291Q|ALAS2_ENST00000498636.1_5'UTR	NM_000032.4	NP_000023.2	P22557	HEM0_HUMAN	aminolevulinate, delta-, synthase 2	328					cellular iron ion homeostasis (GO:0006879)|erythrocyte differentiation (GO:0030218)|heme biosynthetic process (GO:0006783)|hemoglobin biosynthetic process (GO:0042541)|oxygen homeostasis (GO:0032364)|porphyrin-containing compound metabolic process (GO:0006778)|protoporphyrinogen IX biosynthetic process (GO:0006782)|response to hypoxia (GO:0001666)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	5-aminolevulinate synthase activity (GO:0003870)|coenzyme binding (GO:0050662)|glycine binding (GO:0016594)|pyridoxal phosphate binding (GO:0030170)			central_nervous_system(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)|prostate(2)|skin(1)	17					Glycine(DB00145)	TGGACAGTCTCAAAGGCCACA	0.423																																																	0													243.0	194.0	211.0					X																	55043940		2203	4300	6503	SO:0001583	missense	212				CCDS14366.1, CCDS35303.1, CCDS43960.1	Xp11.21	2008-02-05	2008-02-04		ENSG00000158578	ENSG00000158578	2.3.1.37		397	protein-coding gene	gene with protein product	"""sideroblastic/hypochromic anemia"""	301300	"""aminolevulinate, delta-, synthase 2 (sideroblastic/hypochromic anemia)"""	ASB		1577484	Standard	NM_000032		Approved		uc004dua.4	P22557	OTTHUMG00000021641	ENST00000330807.5:c.982G>C	X.37:g.55043940C>G	ENSP00000332369:p.Glu328Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K3F0|A8K6C4|Q13735|Q5JZF5|Q8N6H3	Missense_Mutation	SNP	pfam_Aminotransferase_I/II,pfam_5aminolev_synth_preseq,pfam_Aminotrans_V/Cys_dSase,pfam_Cys/Met-Metab_PyrdxlP-dep_enz,superfamily_PyrdxlP-dep_Trfase_major_dom,tigrfam_4pyrrol_synth_NH2levulA_synth	p.E328Q	ENST00000330807.5	37	c.982	CCDS14366.1	X	.	.	.	.	.	.	.	.	.	.	C	27.2	4.812417	0.90707	.	.	ENSG00000158578	ENST00000330807;ENST00000396198;ENST00000335854	D;D;D	0.96522	-4.04;-4.04;-4.04	5.24	5.24	0.73138	Aminotransferase, class I/classII (1);Tetrapyrrole biosynthesis, 5-aminolevulinic acid synthase (1);Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.000000	0.85682	D	0.000000	D	0.99137	0.9702	H	0.99650	4.68	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.98755	1.0722	10	0.87932	D	0	-29.2274	16.8746	0.86048	0.0:1.0:0.0:0.0	.	291;315;328	A8K6C4;Q5JZF5;P22557	.;.;HEM0_HUMAN	Q	328;315;291	ENSP00000332369:E328Q;ENSP00000379501:E315Q;ENSP00000337131:E291Q	ENSP00000332369:E328Q	E	-	1	0	ALAS2	55060665	1.000000	0.71417	1.000000	0.80357	0.943000	0.58893	7.818000	0.86416	2.333000	0.79357	0.513000	0.50165	GAG	ALAS2	-	pfam_Aminotransferase_I/II,pfam_Aminotrans_V/Cys_dSase,pfam_Cys/Met-Metab_PyrdxlP-dep_enz,superfamily_PyrdxlP-dep_Trfase_major_dom,tigrfam_4pyrrol_synth_NH2levulA_synth		0.423	ALAS2-006	KNOWN	basic|appris_principal|CCDS	protein_coding	ALAS2	HGNC	protein_coding	OTTHUMT00000056843.3	C	NM_000032		55043940	-1	no_errors	ENST00000330807	ensembl	human	known	70_37	missense	SNP	1.000	G
ALDH1A3	220	genome.wustl.edu	37	15	101440802	101440802	+	Silent	SNP	C	C	T			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr15:101440802C>T	ENST00000329841.5	+	9	1438	c.906C>T	c.(904-906)gcC>gcT	p.A302A	RP11-66B24.4_ENST00000560351.1_RNA|ALDH1A3_ENST00000346623.6_Silent_p.A195A	NM_000693.2	NP_000684.2	P47895	AL1A3_HUMAN	aldehyde dehydrogenase 1 family, member A3	302					embryonic eye morphogenesis (GO:0048048)|face development (GO:0060324)|inner ear morphogenesis (GO:0042472)|locomotory behavior (GO:0007626)|neuromuscular process controlling balance (GO:0050885)|nucleus accumbens development (GO:0021768)|olfactory pit development (GO:0060166)|optic cup morphogenesis involved in camera-type eye development (GO:0002072)|positive regulation of apoptotic process (GO:0043065)|retinal metabolic process (GO:0042574)|retinoic acid biosynthetic process (GO:0002138)|retinoic acid metabolic process (GO:0042573)|retinol metabolic process (GO:0042572)|righting reflex (GO:0060013)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	aldehyde dehydrogenase (NAD) activity (GO:0004029)|aldehyde dehydrogenase [NAD(P)+] activity (GO:0004030)|NAD+ binding (GO:0070403)|protein homodimerization activity (GO:0042803)|thyroid hormone binding (GO:0070324)			NS(1)|central_nervous_system(2)|endometrium(3)|large_intestine(7)|lung(9)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	27	Lung NSC(78;0.00144)|all_lung(78;0.0018)|Melanoma(26;0.00852)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.0766)|Lung(145;0.103)		Vitamin A(DB00162)	TGGAGTGTGCCCATCAGGGAG	0.602																																																	0													56.0	45.0	49.0					15																	101440802		2201	4299	6500	SO:0001819	synonymous_variant	220			U07919	CCDS10389.1	15q26	2010-05-07			ENSG00000184254	ENSG00000184254	1.2.1.5	"""Aldehyde dehydrogenases"""	409	protein-coding gene	gene with protein product	"""retinaldehyde dehydrogenase 3"""	600463		ALDH6		7698756	Standard	XR_111558		Approved	RALDH3	uc002bwn.4	P47895	OTTHUMG00000149870	ENST00000329841.5:c.906C>T	15.37:g.101440802C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q6NT64	Silent	SNP	pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH	p.A302	ENST00000329841.5	37	c.906	CCDS10389.1	15																																																																																			ALDH1A3	-	pfam_Aldehyde_DH_dom,superfamily_Ald_DH/histidinol_DH		0.602	ALDH1A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALDH1A3	HGNC	protein_coding	OTTHUMT00000313620.2	C			101440802	+1	no_errors	ENST00000329841	ensembl	human	known	70_37	silent	SNP	1.000	T
ALDH9A1	223	genome.wustl.edu	37	1	165634376	165634376	+	Intron	DEL	A	A	-	rs4646901		TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr1:165634376delA	ENST00000354775.4	-	10	1654				ALDH9A1_ENST00000538148.1_Intron|Y_RNA_ENST00000384263.1_RNA	NM_000696.3	NP_000687.3	P49189	AL9A1_HUMAN	aldehyde dehydrogenase 9 family, member A1						carnitine biosynthetic process (GO:0045329)|cellular aldehyde metabolic process (GO:0006081)|cellular nitrogen compound metabolic process (GO:0034641)|hormone metabolic process (GO:0042445)|kidney development (GO:0001822)|liver development (GO:0001889)|neurotransmitter biosynthetic process (GO:0042136)|oxidation-reduction process (GO:0055114)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	1-pyrroline dehydrogenase activity (GO:0033737)|3-chloroallyl aldehyde dehydrogenase activity (GO:0004028)|4-trimethylammoniobutyraldehyde dehydrogenase activity (GO:0047105)|aldehyde dehydrogenase (NAD) activity (GO:0004029)|amine binding (GO:0043176)|aminobutyraldehyde dehydrogenase activity (GO:0019145)|NAD binding (GO:0051287)			endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	21	all_hematologic(923;0.0773)|Acute lymphoblastic leukemia(8;0.155)					CCCTATGAAGAAAAAAAAAAT	0.423																																					Ovarian(179;1583 2014 18106 33801 42447)												0										275,33,3958		10,0,255,0,33,1835	46.0	41.0	43.0			0.2	0.0	1	dbSNP_111	45	82,107,8065		0,0,82,0,107,3938	no	intron	ALDH9A1	NM_000696.3		10,0,337,0,140,5773	A1A1,A1A2,A1R,A2A2,A2R,RR		2.2898,7.2199,3.9696			165634376	357,140,12023	2203	4300	6503	SO:0001627	intron_variant	223			U34252	CCDS1250.2	1q22-q23	2008-02-05			ENSG00000143149	ENSG00000143149		"""Aldehyde dehydrogenases"""	412	protein-coding gene	gene with protein product		602733		ALDH7, ALDH4, ALDH9		8112751, 8786138	Standard	NM_000696		Approved	E3	uc001gdh.1	P49189	OTTHUMG00000034677	ENST00000354775.4:c.1350-9T>-	1.37:g.165634376delA		Somatic		WXS	Illumina HiSeq	Phase_IV	B2R6X1|B4DXY7|Q5VV90|Q6LCL1|Q9NZT7	RNA	DEL	-	NULL	ENST00000354775.4	37	NULL	CCDS1250.2	1																																																																																			ALDH9A1	-	-		0.423	ALDH9A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALDH9A1	HGNC	protein_coding	OTTHUMT00000083899.1	A			165634376	-1	no_errors	ENST00000463610	ensembl	human	known	70_37	rna	DEL	0.001	-
ALG13	79868	genome.wustl.edu	37	X	110961480	110961480	+	Missense_Mutation	SNP	T	T	C			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chrX:110961480T>C	ENST00000394780.3	+	10	1240	c.1228T>C	c.(1228-1230)Tac>Cac	p.Y410H	ALG13_ENST00000251943.4_Missense_Mutation_p.Y306H	NM_001099922.2|NM_001257231.1	NP_001093392.1|NP_001244160.1	Q9NP73	ALG13_HUMAN	ALG13, UDP-N-acetylglucosaminyltransferase subunit	410					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|lipid glycosylation (GO:0030259)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)	carbohydrate binding (GO:0030246)|cysteine-type peptidase activity (GO:0008234)|N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase activity (GO:0004577)|poly(A) RNA binding (GO:0044822)			endometrium(2)|lung(10)|skin(1)	13						CCATACTGATTACAAGAGTTC	0.373																																																	0													59.0	48.0	51.0					X																	110961480		1568	3578	5146	SO:0001583	missense	79868			AF220051	CCDS14559.1, CCDS55477.1, CCDS59173.1, CCDS76011.1, CCDS76012.1, CCDS76013.1	Xq23	2014-02-24	2013-02-21	2006-11-07	ENSG00000101901	ENSG00000101901	2.4.1.141	"""Tudor domain containing"", ""OTU domain containing"""	30881	protein-coding gene	gene with protein product	"""tudor domain containing 13"", ""N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase"""	300776	"""glycosyltransferase 28 domain containing 1"", ""chromosome X open reading frame 45"", ""asparagine-linked glycosylation 13 homolog (S. cerevisiae)"""	GLT28D1, CXorf45		12477932	Standard	NM_018466		Approved	MDS031, YGL047W, FLJ23018, TDRD13	uc011msy.2	Q9NP73	OTTHUMG00000022209	ENST00000394780.3:c.1228T>C	X.37:g.110961480T>C	ENSP00000378260:p.Tyr410His	Somatic		WXS	Illumina HiSeq	Phase_IV	B1AKD6|B1AKM1|B2R5L5|B7Z6J0|B7Z804|B7Z847|B7Z9A8|B7ZAJ1|B7ZB57|Q17RC3|Q5JXY9|Q9H5U8	Missense_Mutation	SNP	pfam_OTU,pfscan_OTU,pfscan_Tudor	p.Y306H	ENST00000394780.3	37	c.916	CCDS55477.1	X	.	.	.	.	.	.	.	.	.	.	T	9.791	1.177939	0.21787	.	.	ENSG00000101901	ENST00000251943;ENST00000394780;ENST00000495283;ENST00000436609	T;T;T	0.55413	1.51;0.52;1.53	5.52	-0.471	0.12119	.	0.924705	0.08914	U	0.875465	T	0.33876	0.0878	N	0.22421	0.69	0.09310	N	1	P;P;B	0.43094	0.799;0.697;0.112	P;B;B	0.44946	0.465;0.275;0.029	T	0.17167	-1.0378	10	0.17832	T	0.49	0.5089	0.4426	0.00488	0.1832:0.2624:0.1856:0.3688	.	332;410;306	Q9NP73-3;Q9NP73;Q9NP73-4	.;ALG13_HUMAN;.	H	306;410;306;101	ENSP00000251943:Y306H;ENSP00000378260:Y410H;ENSP00000427093:Y306H	ENSP00000251943:Y306H	Y	+	1	0	ALG13	110848136	0.774000	0.28592	0.016000	0.15963	0.042000	0.13812	0.209000	0.17435	0.182000	0.20032	-0.378000	0.06908	TAC	ALG13	-	NULL		0.373	ALG13-011	PUTATIVE	basic|appris_principal|CCDS	protein_coding	ALG13	HGNC	protein_coding	OTTHUMT00000272895.1	T	NM_018466		110961480	+1	no_errors	ENST00000251943	ensembl	human	known	70_37	missense	SNP	0.003	C
ALG13	79868	genome.wustl.edu	37	X	110964869	110964869	+	Missense_Mutation	SNP	G	G	T			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chrX:110964869G>T	ENST00000394780.3	+	12	1377	c.1365G>T	c.(1363-1365)aaG>aaT	p.K455N	ALG13_ENST00000251943.4_Missense_Mutation_p.K351N	NM_001099922.2|NM_001257231.1	NP_001093392.1|NP_001244160.1	Q9NP73	ALG13_HUMAN	ALG13, UDP-N-acetylglucosaminyltransferase subunit	455					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|lipid glycosylation (GO:0030259)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)	carbohydrate binding (GO:0030246)|cysteine-type peptidase activity (GO:0008234)|N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase activity (GO:0004577)|poly(A) RNA binding (GO:0044822)			endometrium(2)|lung(10)|skin(1)	13						TCCCCTATAAGGTGCTCAAAG	0.368																																																	0													80.0	65.0	70.0					X																	110964869		1567	3582	5149	SO:0001583	missense	79868			AF220051	CCDS14559.1, CCDS55477.1, CCDS59173.1, CCDS76011.1, CCDS76012.1, CCDS76013.1	Xq23	2014-02-24	2013-02-21	2006-11-07	ENSG00000101901	ENSG00000101901	2.4.1.141	"""Tudor domain containing"", ""OTU domain containing"""	30881	protein-coding gene	gene with protein product	"""tudor domain containing 13"", ""N-acetylglucosaminyldiphosphodolichol N-acetylglucosaminyltransferase"""	300776	"""glycosyltransferase 28 domain containing 1"", ""chromosome X open reading frame 45"", ""asparagine-linked glycosylation 13 homolog (S. cerevisiae)"""	GLT28D1, CXorf45		12477932	Standard	NM_018466		Approved	MDS031, YGL047W, FLJ23018, TDRD13	uc011msy.2	Q9NP73	OTTHUMG00000022209	ENST00000394780.3:c.1365G>T	X.37:g.110964869G>T	ENSP00000378260:p.Lys455Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	B1AKD6|B1AKM1|B2R5L5|B7Z6J0|B7Z804|B7Z847|B7Z9A8|B7ZAJ1|B7ZB57|Q17RC3|Q5JXY9|Q9H5U8	Missense_Mutation	SNP	pfam_OTU,pfscan_OTU,pfscan_Tudor	p.K351N	ENST00000394780.3	37	c.1053	CCDS55477.1	X	.	.	.	.	.	.	.	.	.	.	G	19.49	3.837607	0.71373	.	.	ENSG00000101901	ENST00000251943;ENST00000394780;ENST00000495283	T;T;T	0.64618	0.91;-0.11;0.94	5.92	3.92	0.45320	.	0.000000	0.64402	U	0.000014	T	0.76941	0.4058	M	0.85777	2.775	0.36908	D	0.890732	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.997;0.999	T	0.80113	-0.1518	10	0.59425	D	0.04	-8.5334	5.9247	0.19104	0.3777:0.0:0.6223:0.0	.	377;455;351	Q9NP73-3;Q9NP73;Q9NP73-4	.;ALG13_HUMAN;.	N	351;455;351	ENSP00000251943:K351N;ENSP00000378260:K455N;ENSP00000427093:K351N	ENSP00000251943:K351N	K	+	3	2	ALG13	110851525	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.406000	0.34646	1.252000	0.44001	0.594000	0.82650	AAG	ALG13	-	NULL		0.368	ALG13-011	PUTATIVE	basic|appris_principal|CCDS	protein_coding	ALG13	HGNC	protein_coding	OTTHUMT00000272895.1	G	NM_018466		110964869	+1	no_errors	ENST00000251943	ensembl	human	known	70_37	missense	SNP	1.000	T
ALG6	29929	genome.wustl.edu	37	1	63894697	63894698	+	Frame_Shift_Del	DEL	AA	AA	-			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	AA	AA					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr1:63894697_63894698delAA	ENST00000371108.4	+	14	1531_1532	c.1226_1227delAA	c.(1225-1227)gaafs	p.E409fs	ALG6_ENST00000263440.4_Frame_Shift_Del_p.E411fs|ALG6_ENST00000494765.1_3'UTR	NM_013339.3	NP_037471.2	Q9Y672	ALG6_HUMAN	ALG6, alpha-1,3-glucosyltransferase	409					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	glucosyltransferase activity (GO:0046527)			endometrium(1)|large_intestine(4)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						TCAATATTTGAAAAGACTTCTG	0.337																																																	0																																										SO:0001589	frameshift_variant	29929			AF063604	CCDS30735.1	1p31.3	2013-03-01	2013-03-01		ENSG00000088035	ENSG00000088035	2.4.1.267		23157	protein-coding gene	gene with protein product	"""dolichyl-P-Glc:Man(9)GlcNAc(2)-PP-dolichol alpha- 1->3-glucosyltransferase"""	604566	"""asparagine-linked glycosylation 6 homolog (yeast, alpha-1,3-glucosyltransferase)"", ""asparagine-linked glycosylation 6, alpha-1,3-glucosyltransferase homolog (S. cerevisiae)"""			10359825, 11875054	Standard	NM_013339		Approved		uc021oof.1	Q9Y672	OTTHUMG00000009140	ENST00000371108.4:c.1226_1227delAA	1.37:g.63894699_63894700delAA	ENSP00000360149:p.Glu409fs	Somatic		WXS	Illumina HiSeq	Phase_IV	B3KMU2|Q5SXR9|Q9H3I0	Frame_Shift_Del	DEL	pfam_Glyco_trans_ALG6/ALG8	p.K412fs	ENST00000371108.4	37	c.1232_1233	CCDS30735.1	1																																																																																			ALG6	-	pfam_Glyco_trans_ALG6/ALG8		0.337	ALG6-001	KNOWN	non_canonical_conserved|basic|appris_candidate|CCDS	protein_coding	ALG6	HGNC	protein_coding	OTTHUMT00000025330.2	AA	NM_013339		63894698	+1	no_errors	ENST00000263440	ensembl	human	known	70_37	frame_shift_del	DEL	0.990:0.911	-
ALK	238	genome.wustl.edu	37	2	29498346	29498346	+	Missense_Mutation	SNP	C	C	A			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr2:29498346C>A	ENST00000389048.3	-	10	2740	c.1834G>T	c.(1834-1836)Gtc>Ttc	p.V612F	ALK_ENST00000431873.1_Intron	NM_004304.4	NP_004295.2	Q9UM73	ALK_HUMAN	anaplastic lymphoma receptor tyrosine kinase	612	MAM 2. {ECO:0000255|PROSITE- ProRule:PRU00128}.				activation of MAPK activity (GO:0000187)|cell proliferation (GO:0008283)|neuron development (GO:0048666)|NIK/NF-kappaB signaling (GO:0038061)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphorylation (GO:0016310)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein autophosphorylation (GO:0046777)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|protein complex (GO:0043234)	ATP binding (GO:0005524)|NF-kappaB-inducing kinase activity (GO:0004704)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)		ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9)	NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2)	340	Acute lymphoblastic leukemia(172;0.155)				Adenosine triphosphate(DB00171)|Crizotinib(DB08865)	CACCATGCGACCATCTGCAGC	0.532			"""T, Mis, A"""	"""NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22"""	"""ALCL, NSCLC, Neuroblastoma"""	neuroblastoma			Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome																														yes	Dom	yes	Familial neuroblastoma	2	2p23	238	anaplastic lymphoma kinase (Ki-1)		"""L, E, M"""	0													125.0	108.0	114.0					2																	29498346		2203	4300	6503	SO:0001583	missense	238	Familial Cancer Database	Familial Neuroblastoma;CCHS, Ondine Curse, incl. Ondine-Hirschsprung Disease	D45915	CCDS33172.1	2p23	2014-09-17	2008-01-23		ENSG00000171094	ENSG00000171094		"""CD molecules"""	427	protein-coding gene	gene with protein product		105590	"""anaplastic lymphoma kinase (Ki-1)"""			8122112	Standard	NM_004304		Approved	CD246	uc002rmy.3	Q9UM73	OTTHUMG00000152034	ENST00000389048.3:c.1834G>T	2.37:g.29498346C>A	ENSP00000373700:p.Val612Phe	Somatic		WXS	Illumina HiSeq	Phase_IV	Q4ZFX9|Q53QQ6|Q53RZ4|Q59FI3|Q9Y4K6	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_MAM_dom,superfamily_Kinase-like_dom,superfamily_ConA-like_lec_gl_sf,superfamily_LDrepeatLR_classA_rpt,smart_LDrepeatLR_classA_rpt,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_MAM_dom,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.V612F	ENST00000389048.3	37	c.1834	CCDS33172.1	2	.	.	.	.	.	.	.	.	.	.	C	15.24	2.773908	0.49786	.	.	ENSG00000171094	ENST00000389048	T	0.02197	4.4	5.05	4.15	0.48705	Concanavalin A-like lectin/glucanase (1);MAM domain (2);	0.168551	0.27627	U	0.018531	T	0.03783	0.0107	L	0.29908	0.895	0.80722	D	1	D	0.57571	0.98	P	0.52386	0.697	T	0.61686	-0.7012	9	.	.	.	.	11.2814	0.49197	0.0:0.8153:0.1846:0.0	.	612	Q9UM73	ALK_HUMAN	F	612	ENSP00000373700:V612F	.	V	-	1	0	ALK	29351850	1.000000	0.71417	0.612000	0.29024	0.468000	0.32798	1.902000	0.39848	1.087000	0.41251	0.561000	0.74099	GTC	ALK	-	pfam_MAM_dom,superfamily_ConA-like_lec_gl_sf,pfscan_MAM_dom		0.532	ALK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALK	HGNC	protein_coding	OTTHUMT00000324994.1	C	NM_004304		29498346	-1	no_errors	ENST00000389048	ensembl	human	known	70_37	missense	SNP	0.968	A
ALKBH8	91801	genome.wustl.edu	37	11	107431560	107431560	+	Silent	SNP	C	C	T			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr11:107431560C>T	ENST00000428149.2	-	2	211	c.60G>A	c.(58-60)agG>agA	p.R20R	ALKBH8_ENST00000389568.3_Silent_p.R20R|ALKBH8_ENST00000530933.1_5'UTR|ALKBH8_ENST00000417449.2_Silent_p.R23R|ALKBH8_ENST00000429370.1_Silent_p.R20R	NM_138775.2	NP_620130.2	Q96BT7	ALKB8_HUMAN	alkB, alkylation repair homolog 8 (E. coli)	20					cellular response to DNA damage stimulus (GO:0006974)|tRNA methylation (GO:0030488)	cytosol (GO:0005829)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|RNA binding (GO:0003723)|tRNA (uracil) methyltransferase activity (GO:0016300)			breast(2)|large_intestine(2)|lung(5)	9		Melanoma(852;0.000288)|Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00301)|all_epithelial(67;0.00512)|Breast(348;0.104)		BRCA - Breast invasive adenocarcinoma(274;3.53e-05)|Epithelial(105;0.00029)|all cancers(92;0.00518)		TAATCTGTTTCCTTAAGAACT	0.348																																																	0													139.0	123.0	129.0					11																	107431560		2201	4298	6499	SO:0001819	synonymous_variant	91801			AF086489	CCDS8337.2, CCDS73376.1	11q22.3	2013-10-04			ENSG00000137760	ENSG00000137760	2.1.1.229	"""Alkylation repair homologs"", ""RNA binding motif (RRM) containing"""	25189	protein-coding gene	gene with protein product		613306				20123966	Standard	NM_138775		Approved	MGC10235	uc009yxp.3	Q96BT7	OTTHUMG00000157008	ENST00000428149.2:c.60G>A	11.37:g.107431560C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B1Q2M0|B4DEF6|Q8N989	Silent	SNP	pfam_Methyltransf_11,pfam_AlkB_hom8_N,pfam_Oxoglu/Fe-dep_dioxygenase,pfam_Methyltransferase-rel	p.R23	ENST00000428149.2	37	c.69	CCDS8337.2	11																																																																																			ALKBH8	-	pfam_AlkB_hom8_N		0.348	ALKBH8-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ALKBH8	HGNC	protein_coding	OTTHUMT00000347071.2	C	NM_138775		107431560	-1	no_errors	ENST00000417449	ensembl	human	known	70_37	silent	SNP	1.000	T
ALPI	248	genome.wustl.edu	37	2	233321089	233321089	+	Missense_Mutation	SNP	G	G	A	rs61732026	byFrequency	TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr2:233321089G>A	ENST00000295463.3	+	2	175	c.98G>A	c.(97-99)cGc>cAc	p.R33H		NM_001631.3	NP_001622.2	P09923	PPBI_HUMAN	alkaline phosphatase, intestinal	33					dephosphorylation (GO:0016311)	anchored component of membrane (GO:0031225)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alkaline phosphatase activity (GO:0004035)|magnesium ion binding (GO:0000287)|protease binding (GO:0002020)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|prostate(2)|upper_aerodigestive_tract(1)	24		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;1.64e-16)|Kidney(3;9.71e-08)|KIRC - Kidney renal clear cell carcinoma(3;2.74e-06)|BRCA - Breast invasive adenocarcinoma(100;0.000763)|Lung(119;0.00564)|LUSC - Lung squamous cell carcinoma(224;0.00746)		TTCTGGAACCGCCAGGCAGCT	0.627																																																	0													64.0	67.0	66.0					2																	233321089		2203	4300	6503	SO:0001583	missense	248			M15694	CCDS2492.1	2q37.1	2008-02-05			ENSG00000163295	ENSG00000163295	3.1.3.1		437	protein-coding gene	gene with protein product		171740				3468508, 3469665	Standard	NM_001631		Approved		uc002vst.4	P09923	OTTHUMG00000133258	ENST00000295463.3:c.98G>A	2.37:g.233321089G>A	ENSP00000295463:p.Arg33His	Somatic		WXS	Illumina HiSeq	Phase_IV	B2R7Y4|Q53S80|Q9UBV5|Q9UCL2	Missense_Mutation	SNP	pfam_Alkaline_phosphatase,superfamily_Alkaline_phosphatase_core,smart_Alkaline_phosphatase,prints_Alkaline_phosphatase	p.R33H	ENST00000295463.3	37	c.98	CCDS2492.1	2	.	.	.	.	.	.	.	.	.	.	g	11.63	1.696440	0.30142	.	.	ENSG00000163295	ENST00000295463	T	0.37915	1.17	5.49	-6.93	0.01638	Alkaline phosphatase-like, alpha/beta/alpha (1);Alkaline-phosphatase-like, core domain (1);	1.688330	0.02898	N	0.135019	T	0.26122	0.0637	L	0.41710	1.295	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.28170	-1.0052	10	0.49607	T	0.09	.	6.1124	0.20108	0.4645:0.0:0.3441:0.1914	.	33	P09923	PPBI_HUMAN	H	33	ENSP00000295463:R33H	ENSP00000295463:R33H	R	+	2	0	ALPI	233029333	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.219000	0.02973	-1.103000	0.03019	-0.894000	0.02916	CGC	ALPI	-	superfamily_Alkaline_phosphatase_core		0.627	ALPI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALPI	HGNC	protein_coding	OTTHUMT00000257035.2	G	NM_001631		233321089	+1	no_errors	ENST00000295463	ensembl	human	known	70_37	missense	SNP	0.000	A
ALPI	248	genome.wustl.edu	37	2	233321923	233321923	+	Missense_Mutation	SNP	C	C	A			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr2:233321923C>A	ENST00000295463.3	+	5	616	c.539C>A	c.(538-540)gCa>gAa	p.A180E		NM_001631.3	NP_001622.2	P09923	PPBI_HUMAN	alkaline phosphatase, intestinal	180					dephosphorylation (GO:0016311)	anchored component of membrane (GO:0031225)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alkaline phosphatase activity (GO:0004035)|magnesium ion binding (GO:0000287)|protease binding (GO:0002020)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|prostate(2)|upper_aerodigestive_tract(1)	24		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;1.64e-16)|Kidney(3;9.71e-08)|KIRC - Kidney renal clear cell carcinoma(3;2.74e-06)|BRCA - Breast invasive adenocarcinoma(100;0.000763)|Lung(119;0.00564)|LUSC - Lung squamous cell carcinoma(224;0.00746)		GGCACCTACGCACACACAGTG	0.612																																																	0													78.0	78.0	78.0					2																	233321923		2203	4300	6503	SO:0001583	missense	248			M15694	CCDS2492.1	2q37.1	2008-02-05			ENSG00000163295	ENSG00000163295	3.1.3.1		437	protein-coding gene	gene with protein product		171740				3468508, 3469665	Standard	NM_001631		Approved		uc002vst.4	P09923	OTTHUMG00000133258	ENST00000295463.3:c.539C>A	2.37:g.233321923C>A	ENSP00000295463:p.Ala180Glu	Somatic		WXS	Illumina HiSeq	Phase_IV	B2R7Y4|Q53S80|Q9UBV5|Q9UCL2	Missense_Mutation	SNP	pfam_Alkaline_phosphatase,superfamily_Alkaline_phosphatase_core,smart_Alkaline_phosphatase,prints_Alkaline_phosphatase	p.A180E	ENST00000295463.3	37	c.539	CCDS2492.1	2	.	.	.	.	.	.	.	.	.	.	C	15.81	2.943232	0.53079	.	.	ENSG00000163295	ENST00000295463	D	0.98474	-4.95	5.5	4.61	0.57282	Alkaline phosphatase-like, alpha/beta/alpha (1);Alkaline-phosphatase-like, core domain (1);	0.057670	0.64402	D	0.000002	D	0.99459	0.9808	H	0.99752	4.75	0.45837	D	0.998703	D	0.89917	1.0	D	0.97110	1.0	D	0.97807	1.0248	10	0.87932	D	0	.	12.8413	0.57805	0.0:0.9201:0.0:0.0799	.	180	P09923	PPBI_HUMAN	E	180	ENSP00000295463:A180E	ENSP00000295463:A180E	A	+	2	0	ALPI	233030167	0.936000	0.31750	0.026000	0.17262	0.017000	0.09413	2.929000	0.48916	1.440000	0.47531	0.561000	0.74099	GCA	ALPI	-	pfam_Alkaline_phosphatase,superfamily_Alkaline_phosphatase_core,smart_Alkaline_phosphatase		0.612	ALPI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALPI	HGNC	protein_coding	OTTHUMT00000257035.2	C	NM_001631		233321923	+1	no_errors	ENST00000295463	ensembl	human	known	70_37	missense	SNP	0.971	A
AMDHD2	51005	genome.wustl.edu	37	16	2578499	2578499	+	Silent	SNP	C	C	T			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr16:2578499C>T	ENST00000293971.6	+	8	1003	c.909C>T	c.(907-909)aaC>aaT	p.N303N	AMDHD2_ENST00000565570.1_Intron|AMDHD2_ENST00000413459.3_Silent_p.N303N|AMDHD2_ENST00000302956.4_Silent_p.N303N|CEMP1_ENST00000382350.1_Intron	NM_015944.3	NP_057028.2	Q9Y303	NAGA_HUMAN	amidohydrolase domain containing 2	303					carbohydrate metabolic process (GO:0005975)|N-acetylglucosamine metabolic process (GO:0006044)|N-acetylneuraminate catabolic process (GO:0019262)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|N-acetylglucosamine-6-phosphate deacetylase activity (GO:0008448)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(3)|skin(2)|urinary_tract(2)	19						GCCTGGGCAACGGCCGGCACA	0.672																																																	0													39.0	36.0	37.0					16																	2578499		2198	4299	6497	SO:0001819	synonymous_variant	51005			AF132948	CCDS10471.1, CCDS53984.1	16p13.3	2008-02-05			ENSG00000162066	ENSG00000162066			24262	protein-coding gene	gene with protein product						10810093	Standard	NM_001145815		Approved	CGI-14	uc010uwc.2	Q9Y303	OTTHUMG00000128866	ENST00000293971.6:c.909C>T	16.37:g.2578499C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B4DL77|Q8WV54	Silent	SNP	pfam_Amidohydro_1,pfam_Amidohydro_3,superfamily_Metal-dep_hydrolase_composite	p.N303	ENST00000293971.6	37	c.909		16																																																																																			AMDHD2	-	pfam_Amidohydro_3,superfamily_Metal-dep_hydrolase_composite		0.672	AMDHD2-004	KNOWN	basic|appris_principal	protein_coding	AMDHD2	HGNC	protein_coding	OTTHUMT00000435652.1	C	NM_015944		2578499	+1	no_errors	ENST00000413459	ensembl	human	known	70_37	silent	SNP	0.863	T
AMOT	154796	genome.wustl.edu	37	X	112024238	112024238	+	Silent	SNP	C	C	T			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chrX:112024238C>T	ENST00000524145.1	-	10	2423	c.2349G>A	c.(2347-2349)cgG>cgA	p.R783R	AMOT_ENST00000371959.3_Silent_p.R783R|AMOT_ENST00000304758.1_Silent_p.R374R|MIR4329_ENST00000582643.1_RNA|AMOT_ENST00000371962.1_Silent_p.R551R|AMOT_ENST00000371958.1_Silent_p.R551R			Q4VCS5	AMOT_HUMAN	angiomotin	783					actin cytoskeleton organization (GO:0030036)|blood vessel endothelial cell migration (GO:0043534)|cell migration involved in gastrulation (GO:0042074)|cell-cell junction assembly (GO:0007043)|cellular protein localization (GO:0034613)|chemotaxis (GO:0006935)|establishment of cell polarity involved in ameboidal cell migration (GO:0003365)|gastrulation with mouth forming second (GO:0001702)|hippo signaling (GO:0035329)|in utero embryonic development (GO:0001701)|negative regulation of angiogenesis (GO:0016525)|negative regulation of GTPase activity (GO:0034260)|negative regulation of vascular permeability (GO:0043116)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell size (GO:0045793)|positive regulation of embryonic development (GO:0040019)|positive regulation of stress fiber assembly (GO:0051496)|regulation of cell migration (GO:0030334)|regulation of small GTPase mediated signal transduction (GO:0051056)|vasculogenesis (GO:0001570)	actin filament (GO:0005884)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|ruffle (GO:0001726)|stress fiber (GO:0001725)|tight junction (GO:0005923)	angiostatin binding (GO:0043532)|receptor activity (GO:0004872)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	43						ACTTCGCTGGCCGCATGCACG	0.557																																																	0													206.0	188.0	194.0					X																	112024238		2203	4300	6503	SO:0001819	synonymous_variant	154796			AB028994	CCDS14563.1, CCDS48154.1	Xq23	2006-02-08			ENSG00000126016	ENSG00000126016			17810	protein-coding gene	gene with protein product		300410				11257124, 16043488, 12406577	Standard	NM_001113490		Approved	KIAA1071	uc004epr.3	Q4VCS5	OTTHUMG00000022216	ENST00000524145.1:c.2349G>A	X.37:g.112024238C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q504X5|Q9HD27|Q9UPT1	Silent	SNP	pfam_Angiomotin_C,superfamily_Prefoldin,prints_Angiomotin	p.R783	ENST00000524145.1	37	c.2349	CCDS48154.1	X																																																																																			AMOT	-	pfam_Angiomotin_C		0.557	AMOT-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AMOT	HGNC	protein_coding	OTTHUMT00000378570.1	C	NM_133265		112024238	-1	no_errors	ENST00000371959	ensembl	human	known	70_37	silent	SNP	0.994	T
AMOT	154796	genome.wustl.edu	37	X	112058694	112058694	+	Silent	SNP	A	A	G			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chrX:112058694A>G	ENST00000524145.1	-	3	1358	c.1284T>C	c.(1282-1284)ttT>ttC	p.F428F	AMOT_ENST00000371959.3_Silent_p.F428F|AMOT_ENST00000304758.1_Silent_p.F19F|AMOT_ENST00000371962.1_Silent_p.F196F|AMOT_ENST00000371958.1_Silent_p.F196F			Q4VCS5	AMOT_HUMAN	angiomotin	428					actin cytoskeleton organization (GO:0030036)|blood vessel endothelial cell migration (GO:0043534)|cell migration involved in gastrulation (GO:0042074)|cell-cell junction assembly (GO:0007043)|cellular protein localization (GO:0034613)|chemotaxis (GO:0006935)|establishment of cell polarity involved in ameboidal cell migration (GO:0003365)|gastrulation with mouth forming second (GO:0001702)|hippo signaling (GO:0035329)|in utero embryonic development (GO:0001701)|negative regulation of angiogenesis (GO:0016525)|negative regulation of GTPase activity (GO:0034260)|negative regulation of vascular permeability (GO:0043116)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell size (GO:0045793)|positive regulation of embryonic development (GO:0040019)|positive regulation of stress fiber assembly (GO:0051496)|regulation of cell migration (GO:0030334)|regulation of small GTPase mediated signal transduction (GO:0051056)|vasculogenesis (GO:0001570)	actin filament (GO:0005884)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|ruffle (GO:0001726)|stress fiber (GO:0001725)|tight junction (GO:0005923)	angiostatin binding (GO:0043532)|receptor activity (GO:0004872)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	43						AAACAATGGCAAAAGGGTCTG	0.547																																																	0													163.0	145.0	151.0					X																	112058694		2203	4300	6503	SO:0001819	synonymous_variant	154796			AB028994	CCDS14563.1, CCDS48154.1	Xq23	2006-02-08			ENSG00000126016	ENSG00000126016			17810	protein-coding gene	gene with protein product		300410				11257124, 16043488, 12406577	Standard	NM_001113490		Approved	KIAA1071	uc004epr.3	Q4VCS5	OTTHUMG00000022216	ENST00000524145.1:c.1284T>C	X.37:g.112058694A>G		Somatic		WXS	Illumina HiSeq	Phase_IV	Q504X5|Q9HD27|Q9UPT1	Silent	SNP	pfam_Angiomotin_C,superfamily_Prefoldin,prints_Angiomotin	p.F428	ENST00000524145.1	37	c.1284	CCDS48154.1	X																																																																																			AMOT	-	NULL		0.547	AMOT-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AMOT	HGNC	protein_coding	OTTHUMT00000378570.1	A	NM_133265		112058694	-1	no_errors	ENST00000371959	ensembl	human	known	70_37	silent	SNP	1.000	G
AMPD2	271	genome.wustl.edu	37	1	110169454	110169454	+	Missense_Mutation	SNP	G	G	A			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr1:110169454G>A	ENST00000256578.3	+	6	1160	c.800G>A	c.(799-801)cGc>cAc	p.R267H	AMPD2_ENST00000342115.4_Missense_Mutation_p.R186H|AMPD2_ENST00000393688.3_Missense_Mutation_p.R148H|AMPD2_ENST00000528667.1_Missense_Mutation_p.R267H|AMPD2_ENST00000526301.1_3'UTR|RP5-1160K1.6_ENST00000369843.3_RNA|AMPD2_ENST00000528454.1_Missense_Mutation_p.R149H|AMPD2_ENST00000358729.4_Missense_Mutation_p.R192H	NM_004037.7	NP_004028.3	Q01433	AMPD2_HUMAN	adenosine monophosphate deaminase 2	267					cell death (GO:0008219)|cyclic purine nucleotide metabolic process (GO:0052652)|energy homeostasis (GO:0097009)|IMP biosynthetic process (GO:0006188)|IMP salvage (GO:0032264)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine-containing compound salvage (GO:0043101)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	AMP deaminase activity (GO:0003876)|metal ion binding (GO:0046872)			breast(1)|large_intestine(3)|ovary(2)|skin(1)	7		all_epithelial(167;2.5e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)|Breast(1374;0.244)		Lung(183;0.0425)|all cancers(265;0.0884)|Colorectal(144;0.109)|Epithelial(280;0.111)|LUSC - Lung squamous cell carcinoma(189;0.228)		CCCACCACCCGCCGCTACCTG	0.632																																																	0													47.0	54.0	51.0					1																	110169454		2203	4300	6503	SO:0001583	missense	271			S47833	CCDS804.1, CCDS805.1, CCDS30796.1, CCDS58016.1	1p13.3	2014-03-03	2010-02-10		ENSG00000116337	ENSG00000116337	3.5.4.6		469	protein-coding gene	gene with protein product	"""AMPD isoform L"""	102771	"""adenosine monophosphate deaminase 2 (isoform L)"""			1400401, 24482476	Standard	NM_004037		Approved	SPG63	uc009wfh.2	Q01433	OTTHUMG00000011649	ENST00000256578.3:c.800G>A	1.37:g.110169454G>A	ENSP00000256578:p.Arg267His	Somatic		WXS	Illumina HiSeq	Phase_IV	B4DK50|B4DZI5|E9PNG0|Q14856|Q14857|Q16686|Q16687|Q16688|Q16729|Q5T693|Q5T695|Q96IA1|Q9UDX8|Q9UDX9|Q9UMU4	Missense_Mutation	SNP	pfam_A/AMP_deaminase_dom,pirsf_AMP_deaminase,tigrfam_AMP_deaminase	p.R267H	ENST00000256578.3	37	c.800	CCDS805.1	1	.	.	.	.	.	.	.	.	.	.	G	19.42	3.824157	0.71143	.	.	ENSG00000116337	ENST00000342115;ENST00000528667;ENST00000256578;ENST00000358729;ENST00000528454;ENST00000393688	T;T;T;T;T;T	0.35421	1.31;1.31;1.31;1.31;1.31;1.31	4.77	4.77	0.60923	.	0.194820	0.42172	D	0.000745	T	0.18383	0.0441	N	0.14661	0.345	0.41724	D	0.989529	P;D;D;D	0.54047	0.955;0.964;0.959;0.964	B;P;B;P	0.48901	0.276;0.594;0.411;0.594	T	0.02942	-1.1091	10	0.52906	T	0.07	-28.6379	12.1781	0.54196	0.0:0.3108:0.6892:0.0	.	192;148;267;186	Q01433-4;Q01433-3;Q01433;Q01433-2	.;.;AMPD2_HUMAN;.	H	186;267;267;192;149;148	ENSP00000345498:R186H;ENSP00000436541:R267H;ENSP00000256578:R267H;ENSP00000351573:R192H;ENSP00000437164:R149H;ENSP00000377292:R148H	ENSP00000256578:R267H	R	+	2	0	AMPD2	109970977	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.427000	0.66483	2.463000	0.83235	0.462000	0.41574	CGC	AMPD2	-	pirsf_AMP_deaminase,tigrfam_AMP_deaminase		0.632	AMPD2-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AMPD2	HGNC	protein_coding	OTTHUMT00000390615.1	G			110169454	+1	no_errors	ENST00000256578	ensembl	human	known	70_37	missense	SNP	1.000	A
ANGPTL1	9068	genome.wustl.edu	37	1	178822736	178822736	+	Missense_Mutation	SNP	T	T	G			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr1:178822736T>G	ENST00000234816.2	-	4	1457	c.1010A>C	c.(1009-1011)aAt>aCt	p.N337T	RALGPS2_ENST00000367634.2_Intron|ANGPTL1_ENST00000367629.1_Missense_Mutation_p.N337T|RALGPS2_ENST00000367635.3_Intron	NM_004673.3	NP_004664.1	O95841	ANGL1_HUMAN	angiopoietin-like 1	337	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	receptor binding (GO:0005102)			breast(2)|endometrium(1)|large_intestine(2)|lung(7)|pancreas(1)|skin(1)	14						TACCTTATAATTTTCCCAATT	0.383																																																	0													70.0	70.0	70.0					1																	178822736		2203	4298	6501	SO:0001583	missense	9068			AF107253	CCDS1327.1	1q25.2	2013-02-06			ENSG00000116194	ENSG00000116194		"""Fibrinogen C domain containing"""	489	protein-coding gene	gene with protein product	"""angioarrestin"""	603874		ANGPT3		10025962, 9286704	Standard	NM_004673		Approved	ANG3, AngY, ARP1	uc001gma.3	O95841	OTTHUMG00000035075	ENST00000234816.2:c.1010A>C	1.37:g.178822736T>G	ENSP00000234816:p.Asn337Thr	Somatic		WXS	Illumina HiSeq	Phase_IV	Q5T5Z5	Missense_Mutation	SNP	pfam_Fibrinogen_a/b/g_C,superfamily_Fibrinogen_a/b/g_C,smart_Fibrinogen_a/b/g_C	p.N337T	ENST00000234816.2	37	c.1010	CCDS1327.1	1	.	.	.	.	.	.	.	.	.	.	T	4.078	0.012446	0.07912	.	.	ENSG00000116194	ENST00000234816;ENST00000367629	T;T	0.81415	-1.49;-1.49	6.07	6.07	0.98685	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (4);Fibrinogen, alpha/beta/gamma chain, C-terminal globular, subdomain 1 (1);	0.087641	0.85682	D	0.000000	T	0.58206	0.2106	N	0.04959	-0.14	0.80722	D	1	B	0.09022	0.002	B	0.14023	0.01	T	0.56171	-0.8023	10	0.12766	T	0.61	.	7.6082	0.28113	0.0:0.0718:0.1428:0.7853	.	337	O95841	ANGL1_HUMAN	T	337	ENSP00000234816:N337T;ENSP00000356601:N337T	ENSP00000234816:N337T	N	-	2	0	ANGPTL1	177089359	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.135000	0.42112	2.330000	0.79161	0.528000	0.53228	AAT	ANGPTL1	-	pfam_Fibrinogen_a/b/g_C,superfamily_Fibrinogen_a/b/g_C,smart_Fibrinogen_a/b/g_C		0.383	ANGPTL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANGPTL1	HGNC	protein_coding	OTTHUMT00000084924.1	T	NM_004673		178822736	-1	no_errors	ENST00000234816	ensembl	human	known	70_37	missense	SNP	1.000	G
ANGPTL5	253935	genome.wustl.edu	37	11	101762304	101762305	+	Frame_Shift_Ins	INS	-	-	G			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr11:101762304_101762305insG	ENST00000334289.3	-	9	1467_1468	c.872_873insC	c.(871-873)aaafs	p.K291fs		NM_178127.4	NP_835228.2	Q86XS5	ANGL5_HUMAN	angiopoietin-like 5	291	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.					extracellular region (GO:0005576)		p.E292fs*30(1)		breast(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(10)|ovary(2)|skin(3)	29		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.043)		BRCA - Breast invasive adenocarcinoma(274;0.0328)		GATTATCTTCTTTTTTGAGACC	0.366																																																	1	Deletion - Frameshift(1)	large_intestine(1)																																								SO:0001589	frameshift_variant	253935			BC049170	CCDS8312.1	11q22.2	2013-02-06				ENSG00000187151		"""Fibrinogen C domain containing"""	19705	protein-coding gene	gene with protein product		607666				12624729	Standard	NM_178127		Approved		uc001pgl.3	Q86XS5		ENST00000334289.3:c.872_873insC	11.37:g.101762304_101762305insG	ENSP00000335255:p.Lys291fs	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K658|Q86VR9	Frame_Shift_Ins	INS	pfam_Fibrinogen_a/b/g_C,superfamily_Fibrinogen_a/b/g_C,smart_Fibrinogen_a/b/g_C	p.K291fs	ENST00000334289.3	37	c.873_872	CCDS8312.1	11																																																																																			ANGPTL5	-	pfam_Fibrinogen_a/b/g_C,superfamily_Fibrinogen_a/b/g_C,smart_Fibrinogen_a/b/g_C		0.366	ANGPTL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANGPTL5	HGNC	protein_coding	OTTHUMT00000394138.1	-	NM_178127		101762305	-1	no_errors	ENST00000334289	ensembl	human	known	70_37	frame_shift_ins	INS	0.998:1.000	G
ANK2	287	genome.wustl.edu	37	4	114275565	114275565	+	Missense_Mutation	SNP	G	G	C			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr4:114275565G>C	ENST00000357077.4	+	38	5844	c.5791G>C	c.(5791-5793)Ggg>Cgg	p.G1931R	ANK2_ENST00000509550.1_Intron|ANK2_ENST00000394537.3_Intron|ANK2_ENST00000264366.6_Missense_Mutation_p.G1898R|ANK2_ENST00000506722.1_Intron|ANK2_ENST00000510275.2_Intron	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	1931	Repeat-rich region.				atrial cardiac muscle cell action potential (GO:0086014)|atrial cardiac muscle cell to AV node cell communication (GO:0086066)|atrial septum development (GO:0003283)|axon guidance (GO:0007411)|cardiac muscle contraction (GO:0060048)|cellular calcium ion homeostasis (GO:0006874)|cellular protein localization (GO:0034613)|membrane depolarization during SA node cell action potential (GO:0086046)|paranodal junction assembly (GO:0030913)|positive regulation of calcium ion transmembrane transporter activity (GO:1901021)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cation channel activity (GO:2001259)|positive regulation of gene expression (GO:0010628)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein localization to cell surface (GO:0034394)|protein localization to endoplasmic reticulum (GO:0070972)|protein localization to M-band (GO:0036309)|protein localization to organelle (GO:0033365)|protein localization to plasma membrane (GO:0072659)|protein localization to T-tubule (GO:0036371)|protein stabilization (GO:0050821)|protein targeting to plasma membrane (GO:0072661)|regulation of calcium ion transmembrane transporter activity (GO:1901019)|regulation of calcium ion transport (GO:0051924)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of protein stability (GO:0031647)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to methylmercury (GO:0051597)|SA node cell action potential (GO:0086015)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|T-tubule organization (GO:0033292)|ventricular cardiac muscle cell action potential (GO:0086005)	A band (GO:0031672)|basolateral plasma membrane (GO:0016323)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intracellular (GO:0005622)|M band (GO:0031430)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|potassium channel regulator activity (GO:0015459)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		AGTATCGCCTGGGAGAACAGA	0.532																																																	0													57.0	56.0	56.0					4																	114275565		2203	4300	6503	SO:0001583	missense	287			M37123	CCDS3702.1, CCDS43261.1, CCDS54796.1	4q25-q26	2014-09-17	2003-03-12		ENSG00000145362	ENSG00000145362		"""Ankyrin repeat domain containing"""	493	protein-coding gene	gene with protein product		106410	"""long (electrocardiographic) QT syndrome 4"""	LQT4		7485162, 12571597	Standard	NM_001148		Approved		uc003ibe.4	Q01484	OTTHUMG00000132912	ENST00000357077.4:c.5791G>C	4.37:g.114275565G>C	ENSP00000349588:p.Gly1931Arg	Somatic		WXS	Illumina HiSeq	Phase_IV	Q01485|Q08AC7|Q08AC8|Q7Z3L5	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_ZU5,pfam_Death,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like,smart_Ankyrin_rpt,smart_ZU5,smart_Death,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death,pfscan_ZU5,prints_Ankyrin_rpt	p.G1931R	ENST00000357077.4	37	c.5791	CCDS3702.1	4	.	.	.	.	.	.	.	.	.	.	G	19.47	3.833980	0.71373	.	.	ENSG00000145362	ENST00000357077;ENST00000264366	T;T	0.66815	-0.21;-0.23	5.65	4.77	0.60923	.	0.000000	0.46145	D	0.000313	T	0.72293	0.3442	L	0.59436	1.845	0.20975	N	0.999813	P;D	0.63046	0.926;0.992	P;D	0.64410	0.459;0.925	T	0.64774	-0.6328	9	.	.	.	.	5.3166	0.15858	0.1499:0.0:0.6759:0.1742	.	1898;1931	Q01484;Q01484-4	ANK2_HUMAN;.	R	1931;1898	ENSP00000349588:G1931R;ENSP00000264366:G1898R	.	G	+	1	0	ANK2	114495014	0.148000	0.22702	0.978000	0.43139	0.896000	0.52359	1.475000	0.35409	2.941000	0.99782	0.655000	0.94253	GGG	ANK2	-	NULL		0.532	ANK2-001	KNOWN	basic|CCDS	protein_coding	ANK2	HGNC	protein_coding	OTTHUMT00000256422.2	G	NM_001148		114275565	+1	no_errors	ENST00000357077	ensembl	human	known	70_37	missense	SNP	0.089	C
ANKRD13B	124930	genome.wustl.edu	37	17	27940575	27940575	+	Missense_Mutation	SNP	T	T	A			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr17:27940575T>A	ENST00000394859.3	+	15	2010	c.1856T>A	c.(1855-1857)cTg>cAg	p.L619Q	RP11-68I3.2_ENST00000581474.1_RNA|CORO6_ENST00000577909.1_5'Flank	NM_152345.4	NP_689558.4	Q86YJ7	AN13B_HUMAN	ankyrin repeat domain 13B	619						endosome (GO:0005768)|plasma membrane (GO:0005886)				cervix(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|skin(2)	16						GAGCGCATCCTGAGGCTCTCA	0.731																																																	0													8.0	13.0	11.0					17																	27940575		1832	3637	5469	SO:0001583	missense	124930			AK092673	CCDS11251.1	17q11.2	2013-01-10			ENSG00000198720	ENSG00000198720		"""Ankyrin repeat domain containing"""	26363	protein-coding gene	gene with protein product		615124					Standard	NM_152345		Approved	FLJ25555	uc002hei.3	Q86YJ7	OTTHUMG00000132731	ENST00000394859.3:c.1856T>A	17.37:g.27940575T>A	ENSP00000378328:p.Leu619Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	Q8N7S9	Missense_Mutation	SNP	pfam_ANKRD13,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Ubiquitin-int_motif,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Ubiquitin-int_motif	p.L619Q	ENST00000394859.3	37	c.1856	CCDS11251.1	17	.	.	.	.	.	.	.	.	.	.	T	20.7	4.037583	0.75617	.	.	ENSG00000198720	ENST00000394859	T	0.71103	-0.54	5.0	5.0	0.66597	.	0.250454	0.31531	N	0.007500	T	0.75932	0.3917	M	0.75884	2.315	0.58432	D	0.999995	P	0.45348	0.856	P	0.46758	0.526	T	0.80540	-0.1337	10	0.87932	D	0	-2.7011	14.8701	0.70450	0.0:0.0:0.0:1.0	.	619	Q86YJ7	AN13B_HUMAN	Q	619	ENSP00000378328:L619Q	ENSP00000378328:L619Q	L	+	2	0	ANKRD13B	24964701	1.000000	0.71417	0.955000	0.39395	0.790000	0.44656	5.733000	0.68571	2.106000	0.64143	0.460000	0.39030	CTG	ANKRD13B	-	NULL		0.731	ANKRD13B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANKRD13B	HGNC	protein_coding	OTTHUMT00000256077.1	T	NM_152345		27940575	+1	no_errors	ENST00000394859	ensembl	human	known	70_37	missense	SNP	1.000	A
ANKRD17	26057	genome.wustl.edu	37	4	73985919	73985919	+	Missense_Mutation	SNP	C	C	G			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr4:73985919C>G	ENST00000358602.4	-	21	4101	c.3985G>C	c.(3985-3987)Gat>Cat	p.D1329H	ANKRD17_ENST00000330838.6_Missense_Mutation_p.D1078H|ANKRD17_ENST00000509867.2_Missense_Mutation_p.D1216H|ANKRD17_ENST00000514252.1_5'UTR	NM_032217.3	NP_115593.3	O75179	ANR17_HUMAN	ankyrin repeat domain 17	1329					blood vessel maturation (GO:0001955)|negative regulation of smooth muscle cell differentiation (GO:0051151)|viral process (GO:0016032)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)	96	Breast(15;0.000295)		Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			TGCCCTTTATCTGCTGCTATG	0.428																																																	0													167.0	151.0	156.0					4																	73985919		2203	4300	6503	SO:0001583	missense	26057			AB014597	CCDS34003.1, CCDS34004.1, CCDS68721.1	4q21.1-q21.21	2013-01-10			ENSG00000132466	ENSG00000132466		"""Ankyrin repeat domain containing"""	23575	protein-coding gene	gene with protein product		615929				11165478	Standard	NM_032217		Approved	GTAR, KIAA0697, FLJ22206, NY-BR-16	uc003hgp.3	O75179	OTTHUMG00000160826	ENST00000358602.4:c.3985G>C	4.37:g.73985919C>G	ENSP00000351416:p.Asp1329His	Somatic		WXS	Illumina HiSeq	Phase_IV	E7EUV3|G5E964|Q6PJ85|Q6PK85|Q6PKA2|Q86XI3|Q8NDR5|Q96I86|Q9H288|Q9H6J9	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_KH_dom_type_1,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_KH_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_KH_dom_type_1,prints_Ankyrin_rpt	p.D1329H	ENST00000358602.4	37	c.3985	CCDS34004.1	4	.	.	.	.	.	.	.	.	.	.	C	24.1	4.499123	0.85069	.	.	ENSG00000132466	ENST00000358602;ENST00000330838;ENST00000509867	T;T;T	0.64618	-0.11;-0.11;-0.11	5.68	5.68	0.88126	Ankyrin repeat-containing domain (4);	0.000000	0.64402	D	0.000001	T	0.68201	0.2975	N	0.16266	0.395	0.58432	D	0.999998	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.995;0.998;0.998;0.999;0.999	T	0.68914	-0.5283	10	0.39692	T	0.17	.	19.7934	0.96469	0.0:1.0:0.0:0.0	.	850;1328;1078;1329;1216	B4DR08;O75179-2;G5E964;O75179;E7EUV3	.;.;.;ANR17_HUMAN;.	H	1329;1078;1216	ENSP00000351416:D1329H;ENSP00000332265:D1078H;ENSP00000427151:D1216H	ENSP00000332265:D1078H	D	-	1	0	ANKRD17	74204783	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.666000	0.83877	2.678000	0.91216	0.585000	0.79938	GAT	ANKRD17	-	superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom		0.428	ANKRD17-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ANKRD17	HGNC	protein_coding	OTTHUMT00000362475.1	C	NM_032217		73985919	-1	no_errors	ENST00000358602	ensembl	human	known	70_37	missense	SNP	1.000	G
ANKRD36C	400986	genome.wustl.edu	37	2	96549981	96549981	+	Missense_Mutation	SNP	C	C	T			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr2:96549981C>T	ENST00000456556.1	-	54	3289	c.3205G>A	c.(3205-3207)Gag>Aag	p.E1069K	ANKRD36C_ENST00000419039.2_Missense_Mutation_p.E96K|ANKRD36C_ENST00000295246.5_Missense_Mutation_p.E490K|ANKRD36C_ENST00000420871.2_Missense_Mutation_p.E320K			Q5JPF3	AN36C_HUMAN	ankyrin repeat domain 36C	1069							ion channel inhibitor activity (GO:0008200)			breast(1)|endometrium(8)|kidney(5)|lung(4)	18						GAATCTTTCTCATCACCTGTA	0.303																																																	0																																										SO:0001583	missense	400986			AL832836		2q11.1	2013-01-10			ENSG00000174501	ENSG00000174501		"""Ankyrin repeat domain containing"""	32946	protein-coding gene	gene with protein product	"""protein immuno-reactive with anti-PTH polyclonal antibodies"""						Standard	XR_251121		Approved	DKFZp667P0924	uc002suz.1	Q5JPF3	OTTHUMG00000155211	ENST00000456556.1:c.3205G>A	2.37:g.96549981C>T	ENSP00000403302:p.Glu1069Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	C9JZ08|Q15694|Q53S06|Q658V2	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.E1069K	ENST00000456556.1	37	c.3205		2	.	.	.	.	.	.	.	.	.	.	c	0.185	-1.059020	0.01950	.	.	ENSG00000174501	ENST00000420871;ENST00000456556;ENST00000419039;ENST00000295246	T;T;T;T	0.78364	-1.17;-1.17;2.66;2.66	1.21	-2.42	0.06542	.	.	.	.	.	T	0.44705	0.1306	N	0.03115	-0.41	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.27938	-1.0059	9	0.07175	T	0.84	.	2.9181	0.05760	0.2332:0.4666:0.0:0.3002	.	1069	Q5JPF3	AN36C_HUMAN	K	320;1069;96;490	ENSP00000415231:E320K;ENSP00000403302:E1069K;ENSP00000407838:E96K;ENSP00000295246:E490K	ENSP00000295246:E490K	E	-	1	0	AC073995.2	95913708	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.191000	0.17076	-1.705000	0.01406	-1.872000	0.00552	GAG	ANKRD36C	-	NULL		0.303	ANKRD36C-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	ANKRD36C	HGNC	protein_coding	OTTHUMT00000338799.2	C	NM_001010914		96549981	-1	no_errors	ENST00000456556	ensembl	human	known	70_37	missense	SNP	0.000	T
ANKEF1	63926	genome.wustl.edu	37	20	10032317	10032317	+	Silent	SNP	C	C	T	rs369090311		TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr20:10032317C>T	ENST00000378380.3	+	7	1979	c.1650C>T	c.(1648-1650)aaC>aaT	p.N550N	ANKEF1_ENST00000378392.1_Silent_p.N550N|SNAP25-AS1_ENST00000603542.1_RNA|ANKEF1_ENST00000488991.1_3'UTR|SNAP25-AS1_ENST00000421143.2_RNA	NM_198798.1	NP_942093.1	Q9NU02	ANKE1_HUMAN	ankyrin repeat and EF-hand domain containing 1	550							calcium ion binding (GO:0005509)										ACAGAGCTAACGTTAATGCAA	0.358																																																	0								C	,	1,4405	2.1+/-5.4	0,1,2202	77.0	73.0	74.0		1650,1650	-11.4	0.2	20		74	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	ANKRD5	NM_022096.4,NM_198798.1	,	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	,	550/777,550/777	10032317	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	63926			AK025322	CCDS13108.1	20p12.2	2013-01-11	2013-01-11	2013-01-11	ENSG00000132623	ENSG00000132623		"""EF-hand domain containing"", ""Ankyrin repeat domain containing"""	15803	protein-coding gene	gene with protein product			"""ankyrin repeat domain 5"""	ANKRD5		17142250	Standard	NM_022096		Approved	FLJ21669, dJ839B4.6	uc002wnp.3	Q9NU02	OTTHUMG00000031860	ENST00000378380.3:c.1650C>T	20.37:g.10032317C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B3KUQ0|Q9H6Y9	Silent	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EF_HAND_2,prints_Ankyrin_rpt	p.N550	ENST00000378380.3	37	c.1650	CCDS13108.1	20																																																																																			ANKRD5	-	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt		0.358	ANKEF1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ANKRD5	HGNC	protein_coding	OTTHUMT00000077968.2	C	NM_022096		10032317	+1	no_errors	ENST00000378380	ensembl	human	known	70_37	silent	SNP	0.332	T
ANKUB1	389161	genome.wustl.edu	37	3	149485802	149485802	+	Missense_Mutation	SNP	G	G	A			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr3:149485802G>A	ENST00000383050.3	-	5	1103	c.647C>T	c.(646-648)gCg>gTg	p.A216V	ANKUB1_ENST00000446160.1_Missense_Mutation_p.A216V|ANKUB1_ENST00000462519.2_Missense_Mutation_p.A216V			A6NFN9	ANKUB_HUMAN	ankyrin repeat and ubiquitin domain containing 1	216										breast(1)|kidney(1)|lung(1)|skin(1)	4						GTGGGGCCGCGCACCCTGCTT	0.522																																																	0													35.0	33.0	33.0					3																	149485802		692	1591	2283	SO:0001583	missense	389161			AK027233		3q25.1	2013-01-11	2011-05-10	2011-05-10	ENSG00000206199	ENSG00000206199		"""Ankyrin repeat domain containing"""	29642	protein-coding gene	gene with protein product			"""chromosome 3 open reading frame 16"""	C3orf16			Standard	NM_001144960		Approved		uc003exl.3	A6NFN9	OTTHUMG00000159615	ENST00000383050.3:c.647C>T	3.37:g.149485802G>A	ENSP00000372522:p.Ala216Val	Somatic		WXS	Illumina HiSeq	Phase_IV	B4E2N8	Missense_Mutation	SNP	superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ubiquitin_supergroup	p.A216V	ENST00000383050.3	37	c.647		3	.	.	.	.	.	.	.	.	.	.	G	0.320	-0.962281	0.02249	.	.	ENSG00000206199	ENST00000446160;ENST00000383050;ENST00000462519	T;T;T	0.43294	0.95;0.95;0.95	5.29	-4.69	0.03299	Ankyrin repeat-containing domain (3);	.	.	.	.	T	0.21590	0.0520	N	0.11000	0.08	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.002	T	0.28586	-1.0039	9	0.17832	T	0.49	.	14.7889	0.69824	0.3065:0.0:0.6935:0.0	.	216;216	A6NFN9;E9PHT4	ANKUB_HUMAN;.	V	216	ENSP00000387907:A216V;ENSP00000372522:A216V;ENSP00000417635:A216V	ENSP00000372522:A216V	A	-	2	0	ANKUB1	150968492	0.000000	0.05858	0.241000	0.24154	0.439000	0.31926	-1.105000	0.03323	-0.693000	0.05121	-0.300000	0.09419	GCG	ANKUB1	-	superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt		0.522	ANKUB1-201	KNOWN	basic	protein_coding	ANKUB1	HGNC	protein_coding		G	NM_001144960		149485802	-1	no_errors	ENST00000446160	ensembl	human	known	70_37	missense	SNP	0.022	A
ANLN	54443	genome.wustl.edu	37	7	36456741	36456741	+	Missense_Mutation	SNP	T	T	A			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr7:36456741T>A	ENST00000265748.2	+	9	1796	c.1575T>A	c.(1573-1575)ttT>ttA	p.F525L	ANLN_ENST00000396068.2_Intron|ANLN_ENST00000495714.1_3'UTR	NM_018685.2	NP_061155.2	Q9NQW6	ANLN_HUMAN	anillin, actin binding protein	525	Interaction with F-actin.				hematopoietic progenitor cell differentiation (GO:0002244)|mitotic cytokinesis (GO:0000281)|mitotic nuclear division (GO:0007067)|regulation of exit from mitosis (GO:0007096)|septin ring assembly (GO:0000921)	actin cytoskeleton (GO:0015629)|actomyosin contractile ring (GO:0005826)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	actin binding (GO:0003779)			breast(2)|endometrium(5)|kidney(5)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(2)	45						TAACATTGTTTTTAGAAGAGG	0.284																																																	0													58.0	61.0	60.0					7																	36456741		2203	4294	6497	SO:0001583	missense	54443			AF273437	CCDS5447.1, CCDS64628.1	7p15-p14	2013-01-10	2006-08-22		ENSG00000011426	ENSG00000011426		"""Pleckstrin homology (PH) domain containing"""	14082	protein-coding gene	gene with protein product			"""anillin (Drosophila Scraps homolog), actin binding protein"", ""anillin, actin binding protein (scraps homolog, Drosophila)"""			10931866	Standard	NM_001284301		Approved	ANILLIN, Scraps, scra	uc003tff.3	Q9NQW6	OTTHUMG00000023143	ENST00000265748.2:c.1575T>A	7.37:g.36456741T>A	ENSP00000265748:p.Phe525Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	Q5CZ78|Q6NSK5|Q9H8Y4|Q9NVN9|Q9NVP0	Missense_Mutation	SNP	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.F525L	ENST00000265748.2	37	c.1575	CCDS5447.1	7	.	.	.	.	.	.	.	.	.	.	T	10.36	1.329069	0.24167	.	.	ENSG00000011426	ENST00000265748	T	0.11495	2.77	4.78	2.4	0.29515	.	0.482216	0.22632	N	0.057567	T	0.07098	0.0180	L	0.46741	1.465	0.80722	D	1	B;B	0.16166	0.016;0.015	B;B	0.12156	0.007;0.005	T	0.19877	-1.0292	10	0.02654	T	1	-21.661	5.1632	0.15071	0.0:0.2427:0.0:0.7573	.	402;525	B4DSL6;Q9NQW6	.;ANLN_HUMAN	L	525	ENSP00000265748:F525L	ENSP00000265748:F525L	F	+	3	2	ANLN	36423266	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	1.274000	0.33132	0.875000	0.35847	0.383000	0.25322	TTT	ANLN	-	NULL		0.284	ANLN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANLN	HGNC	protein_coding	OTTHUMT00000218582.3	T	NM_018685		36456741	+1	no_errors	ENST00000265748	ensembl	human	known	70_37	missense	SNP	1.000	A
ANO3	63982	genome.wustl.edu	37	11	26484627	26484627	+	Missense_Mutation	SNP	G	G	C			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr11:26484627G>C	ENST00000256737.3	+	4	1216	c.364G>C	c.(364-366)Gac>Cac	p.D122H	ANO3_ENST00000537978.1_Missense_Mutation_p.D106H|ANO3_ENST00000525139.1_Missense_Mutation_p.D106H|ANO3_ENST00000531646.1_Missense_Mutation_p.D122H	NM_031418.2	NP_113606.2	Q9BYT9	ANO3_HUMAN	anoctamin 3	122					calcium activated galactosylceramide scrambling (GO:0061591)|calcium activated phosphatidylcholine scrambling (GO:0061590)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	phospholipid scramblase activity (GO:0017128)			breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(33)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	68						CGCTACTTATGACCGATCTCG	0.299																																																	0													73.0	64.0	67.0					11																	26484627		2203	4290	6493	SO:0001583	missense	63982			AJ300461	CCDS31447.1	11p14.2	2014-04-09	2008-08-28	2008-08-28	ENSG00000134343	ENSG00000134343		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	14004	protein-coding gene	gene with protein product	"""transmembrane protein 16C (eight membrane-spanning domains)"""	610110	"""chromosome 11 open reading frame 25"", ""transmembrane protein 16C"""	C11orf25, TMEM16C		12739008, 15067359, 23200863, 24692353	Standard	NM_031418		Approved	GENX-3947, DYT23	uc001mqt.4	Q9BYT9	OTTHUMG00000166096	ENST00000256737.3:c.364G>C	11.37:g.26484627G>C	ENSP00000256737:p.Asp122His	Somatic		WXS	Illumina HiSeq	Phase_IV	B7Z3F5	Missense_Mutation	SNP	pfam_Anoctamin	p.D122H	ENST00000256737.3	37	c.364	CCDS31447.1	11	.	.	.	.	.	.	.	.	.	.	G	18.22	3.576272	0.65878	.	.	ENSG00000134343	ENST00000537978;ENST00000525139;ENST00000256737;ENST00000531646;ENST00000538001	T;T;T;T	0.64085	-0.08;-0.08;-0.08;-0.08	4.32	4.32	0.51571	.	0.482604	0.21820	N	0.068630	T	0.69663	0.3136	L	0.43152	1.355	0.32812	D	0.501619	D	0.76494	0.999	D	0.65573	0.936	T	0.75863	-0.3167	10	0.72032	D	0.01	.	12.6033	0.56509	0.0:0.0:1.0:0.0	.	122	Q9BYT9	ANO3_HUMAN	H	106;106;122;122;39	ENSP00000440737:D106H;ENSP00000432576:D106H;ENSP00000256737:D122H;ENSP00000435275:D122H	ENSP00000256737:D122H	D	+	1	0	ANO3	26441203	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.817000	0.55668	2.692000	0.91855	0.655000	0.94253	GAC	ANO3	-	NULL		0.299	ANO3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ANO3	HGNC	protein_coding	OTTHUMT00000387806.1	G	NM_031418		26484627	+1	no_errors	ENST00000256737	ensembl	human	known	70_37	missense	SNP	1.000	C
ANO8	57719	genome.wustl.edu	37	19	17435963	17435963	+	Missense_Mutation	SNP	C	C	T			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr19:17435963C>T	ENST00000159087.4	-	17	3052	c.2894G>A	c.(2893-2895)cGc>cAc	p.R965H		NM_020959.2	NP_066010.1	Q9HCE9	ANO8_HUMAN	anoctamin 8	965					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	intracellular calcium activated chloride channel activity (GO:0005229)			autonomic_ganglia(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(3)	27						GGACCCTGGGCGCTTGGGCCG	0.652																																																	0													56.0	55.0	55.0					19																	17435963		2203	4300	6503	SO:0001583	missense	57719			AB046843	CCDS32949.1	19p13.12	2014-04-09	2008-08-28	2008-08-28		ENSG00000074855		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	29329	protein-coding gene	gene with protein product		610216	"""KIAA1623"", ""transmembrane protein 16H"""	KIAA1623, TMEM16H		10997877, 24692353	Standard	NM_020959		Approved		uc002ngf.2	Q9HCE9		ENST00000159087.4:c.2894G>A	19.37:g.17435963C>T	ENSP00000159087:p.Arg965His	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NIJ0	Missense_Mutation	SNP	pfam_Anoctamin	p.R965H	ENST00000159087.4	37	c.2894	CCDS32949.1	19	.	.	.	.	.	.	.	.	.	.	C	19.51	3.841539	0.71488	.	.	ENSG00000074855	ENST00000159087	T	0.78481	-1.18	4.21	4.21	0.49690	.	0.116245	0.56097	D	0.000037	D	0.84488	0.5483	L	0.55990	1.75	0.41898	D	0.9904	D	0.89917	1.0	D	0.80764	0.994	D	0.86195	0.1615	10	0.62326	D	0.03	.	14.0274	0.64594	0.0:1.0:0.0:0.0	.	965	Q9HCE9	ANO8_HUMAN	H	965	ENSP00000159087:R965H	ENSP00000159087:R965H	R	-	2	0	ANO8	17296963	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	6.892000	0.75644	1.887000	0.54652	0.491000	0.48974	CGC	ANO8	-	NULL		0.652	ANO8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANO8	HGNC	protein_coding	OTTHUMT00000462943.1	C	XM_050644		17435963	-1	no_errors	ENST00000159087	ensembl	human	known	70_37	missense	SNP	1.000	T
ANTXR2	118429	genome.wustl.edu	37	4	80828578	80828578	+	3'UTR	SNP	C	C	G			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr4:80828578C>G	ENST00000403729.2	-	0	1997				ANTXR2_ENST00000404191.1_3'UTR|ANTXR2_ENST00000482406.1_5'UTR	NM_058172.5	NP_477520.2	P58335	ANTR2_HUMAN	anthrax toxin receptor 2						reproductive process (GO:0022414)	endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|receptor activity (GO:0004872)			endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)	13						CTTCCTGCTTCCCTTTTACTG	0.368									Juvenile Hyaline Fibromatosis																																								0													109.0	106.0	107.0					4																	80828578		1859	4102	5961	SO:0001624	3_prime_UTR_variant	118429	Familial Cancer Database	incl. Infantile Systemic Hyalinosis	AY040326	CCDS47085.1, CCDS47086.1, CCDS68733.1	4q21.3	2004-01-15			ENSG00000163297	ENSG00000163297			21732	protein-coding gene	gene with protein product	"""capillary morphogenesis protein 2"""	608041				11683410, 12700348	Standard	NM_058172		Approved	CMG2, CMG-2, FLJ31074	uc003hlz.4	P58335	OTTHUMG00000151982	ENST00000403729.2:c.*5G>C	4.37:g.80828578C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	Q4W5H6|Q59E98|Q5JPE9|Q86UI1|Q8N4J8|Q8NB13|Q96NC7	RNA	SNP	-	NULL	ENST00000403729.2	37	NULL	CCDS47085.1	4																																																																																			ANTXR2	-	-		0.368	ANTXR2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	ANTXR2	HGNC	protein_coding	OTTHUMT00000324666.2	C	NM_058172		80828578	-1	no_errors	ENST00000482406	ensembl	human	known	70_37	rna	SNP	0.000	G
ANXA13	312	genome.wustl.edu	37	8	124696865	124696865	+	Silent	SNP	G	G	A	rs530903950		TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr8:124696865G>A	ENST00000419625.1	-	10	888	c.816C>T	c.(814-816)gtC>gtT	p.V272V	ANXA13_ENST00000262219.6_Silent_p.V313V	NM_004306.2	NP_004297.2	P27216	ANX13_HUMAN	annexin A13	272			V -> I (in dbSNP:rs2294015).		cell differentiation (GO:0030154)|negative regulation of Golgi to plasma membrane protein transport (GO:0042997)|positive regulation of Golgi to plasma membrane protein transport (GO:0042998)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|exocytic vesicle (GO:0070382)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|phosphatidylglycerol binding (GO:1901611)|phosphatidylserine binding (GO:0001786)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|liver(1)|lung(11)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(2)	25	Lung NSC(37;2.06e-11)|Ovarian(258;0.00579)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00288)			CCCTGGTCACGACTATGCGAA	0.493													G|||	1	0.000199681	0.0008	0.0	5008	,	,		17708	0.0		0.0	False		,,,				2504	0.0																0													180.0	138.0	152.0					8																	124696865		2203	4300	6503	SO:0001819	synonymous_variant	312			Z11502	CCDS34939.1, CCDS47917.1	8q24.13	2005-11-09			ENSG00000104537	ENSG00000104537		"""Annexins"""	536	protein-coding gene	gene with protein product		602573		ANX13		9503022	Standard	NM_004306		Approved		uc003yqt.3	P27216	OTTHUMG00000164987	ENST00000419625.1:c.816C>T	8.37:g.124696865G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q9BQR5	Silent	SNP	pfam_Annexin_repeat,superfamily_Annexin,smart_Annexin_repeat,prints_Annexin,prints_AnnexinXIII	p.V313	ENST00000419625.1	37	c.939	CCDS47917.1	8																																																																																			ANXA13	-	pfam_Annexin_repeat,superfamily_Annexin,smart_Annexin_repeat,prints_Annexin		0.493	ANXA13-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ANXA13	HGNC	protein_coding	OTTHUMT00000381308.1	G	NM_004306		124696865	-1	no_errors	ENST00000262219	ensembl	human	known	70_37	silent	SNP	0.188	A
AP2B1	163	genome.wustl.edu	37	17	33954732	33954732	+	Missense_Mutation	SNP	C	C	T			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr17:33954732C>T	ENST00000262325.7	+	9	1695	c.1142C>T	c.(1141-1143)gCc>gTc	p.A381V	AP2B1_ENST00000537622.2_Missense_Mutation_p.A381V|AP2B1_ENST00000592545.1_Missense_Mutation_p.A343V|AP2B1_ENST00000538556.1_Missense_Mutation_p.A324V|AP2B1_ENST00000589344.1_Missense_Mutation_p.A381V|AP2B1_ENST00000545922.2_3'UTR|AP2B1_ENST00000312678.8_Missense_Mutation_p.A381V	NM_001282.2	NP_001273.1	P63010	AP2B1_HUMAN	adaptor-related protein complex 2, beta 1 subunit	381					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|axon guidance (GO:0007411)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|intracellular protein transport (GO:0006886)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of defense response to virus by virus (GO:0050690)|synaptic transmission (GO:0007268)|viral process (GO:0016032)	clathrin adaptor complex (GO:0030131)|clathrin-coated endocytic vesicle membrane (GO:0030669)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|plasma membrane (GO:0005886)	clathrin binding (GO:0030276)|protein transporter activity (GO:0008565)			NS(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|ovary(3)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0227)		GGACGGTGTGCCATCAAGGTG	0.413																																																	0													109.0	101.0	104.0					17																	33954732		2203	4300	6503	SO:0001583	missense	163			M34175	CCDS32621.1, CCDS32622.1	17q11.2-q12	2010-06-18			ENSG00000006125	ENSG00000006125			563	protein-coding gene	gene with protein product		601025		ADTB2, CLAPB1		8262066, 8595912	Standard	XM_005257937		Approved		uc002hjq.3	P63010		ENST00000262325.7:c.1142C>T	17.37:g.33954732C>T	ENSP00000262325:p.Ala381Val	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NJP3|P21851|Q7Z451|Q96J19	Missense_Mutation	SNP	pfam_Clathrin/coatomer_adapt-like_N,pfam_B-adaptin_app_sub_C,pfam_HEAT,pfam_Clathrin_a/b/g-adaptin_app_Ig,superfamily_ARM-type_fold,superfamily_Coatomer/calthrin_app_sub_C,superfamily_Coatomer/clathrin_app_Ig-like,smart_Armadillo,smart_Clathrin_a/b/g-adaptin_app_Ig,pirsf_AP_complex_bsu_1_2_4	p.A381V	ENST00000262325.7	37	c.1142	CCDS32622.1	17	.	.	.	.	.	.	.	.	.	.	C	29.8	5.033287	0.93575	.	.	ENSG00000006125	ENST00000262325;ENST00000312678;ENST00000538556;ENST00000537622;ENST00000545922	T;T;T;T	0.33654	1.4;1.4;1.4;1.4	5.74	5.74	0.90152	Clathrin/coatomer adaptor, adaptin-like, N-terminal (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.72374	0.3452	H	0.94698	3.57	0.80722	D	1	D;D;D;D	0.89917	0.999;0.999;1.0;0.998	D;D;D;D	0.91635	0.978;0.987;0.999;0.914	T	0.80197	-0.1482	10	0.87932	D	0	-11.0005	18.9119	0.92489	0.0:1.0:0.0:0.0	.	118;343;381;381	F5GYG9;B4DWG4;P63010;P63010-2	.;.;AP2B1_HUMAN;.	V	381;381;324;381;118	ENSP00000262325:A381V;ENSP00000314414:A381V;ENSP00000440563:A324V;ENSP00000437413:A381V	ENSP00000262325:A381V	A	+	2	0	AP2B1	30978845	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.738000	0.84966	2.712000	0.92718	0.650000	0.86243	GCC	AP2B1	-	pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_AP_complex_bsu_1_2_4		0.413	AP2B1-001	KNOWN	basic|CCDS	protein_coding	AP2B1	HGNC	protein_coding	OTTHUMT00000448969.1	C			33954732	+1	no_errors	ENST00000312678	ensembl	human	known	70_37	missense	SNP	1.000	T
AOC3	8639	genome.wustl.edu	37	17	41008322	41008322	+	Missense_Mutation	SNP	C	C	G			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr17:41008322C>G	ENST00000308423.2	+	4	2207	c.2047C>G	c.(2047-2049)Ctg>Gtg	p.L683V	AOC3_ENST00000591562.1_Missense_Mutation_p.L140V	NM_003734.2	NP_003725.1	Q16853	AOC3_HUMAN	amine oxidase, copper containing 3	683					amine metabolic process (GO:0009308)|cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|cell adhesion (GO:0007155)|inflammatory response (GO:0006954)|response to antibiotic (GO:0046677)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	aliphatic-amine oxidase activity (GO:0052595)|aminoacetone:oxygen oxidoreductase(deaminating) activity (GO:0052594)|calcium ion binding (GO:0005509)|cation channel activity (GO:0005261)|copper ion binding (GO:0005507)|phenethylamine:oxygen oxidoreductase (deaminating) activity (GO:0052596)|primary amine oxidase activity (GO:0008131)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|quinone binding (GO:0048038)|tryptamine:oxygen oxidoreductase (deaminating) activity (GO:0052593)			breast(1)|central_nervous_system(4)|endometrium(4)|kidney(1)|large_intestine(8)|lung(14)|ovary(1)|skin(8)	41		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.156)	Hydralazine(DB01275)|Phenelzine(DB00780)	AGCTGGTTTTCTGCATATCCC	0.542																																					NSCLC(3;192 220 10664 11501 16477)												0													144.0	140.0	142.0					17																	41008322		2203	4300	6503	SO:0001583	missense	8639			AF067406	CCDS11444.1, CCDS62198.1, CCDS74071.1	17q21	2013-05-08	2013-05-08			ENSG00000131471	1.4.3.21		550	protein-coding gene	gene with protein product	"""vascular adhesion protein 1"""	603735				9653080, 8972912	Standard	NM_003734		Approved	VAP1, HPAO, VAP-1	uc002ibv.4	Q16853		ENST00000308423.2:c.2047C>G	17.37:g.41008322C>G	ENSP00000312326:p.Leu683Val	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RCI5|K7ESB3|L0L8N9|Q45F94	Missense_Mutation	SNP	pfam_Cu_amine_oxidase_C,pfam_Cu_amine_oxidase_N2,pfam_Cu_amine_oxidase_N3,superfamily_Cu_amine_oxidase_C,superfamily_Cu_amine_oxidase_N-reg,prints_Cu_amine_oxidase	p.L683V	ENST00000308423.2	37	c.2047	CCDS11444.1	17	.	.	.	.	.	.	.	.	.	.	C	18.01	3.527288	0.64860	.	.	ENSG00000131471	ENST00000308423	T	0.03831	3.79	4.91	2.76	0.32466	Copper amine oxidase, C-terminal (3);	0.151199	0.46145	D	0.000308	T	0.19406	0.0466	M	0.88842	2.985	0.53688	D	0.999972	D	0.89917	1.0	D	0.91635	0.999	T	0.18840	-1.0324	10	0.16420	T	0.52	.	8.6837	0.34225	0.0:0.731:0.0:0.269	.	683	Q16853	AOC3_HUMAN	V	683	ENSP00000312326:L683V	ENSP00000312326:L683V	L	+	1	2	AOC3	38261848	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	1.879000	0.39618	1.264000	0.44198	0.561000	0.74099	CTG	AOC3	-	pfam_Cu_amine_oxidase_C,superfamily_Cu_amine_oxidase_C,prints_Cu_amine_oxidase		0.542	AOC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AOC3	HGNC	protein_coding	OTTHUMT00000452444.1	C	NM_003734		41008322	+1	no_errors	ENST00000308423	ensembl	human	known	70_37	missense	SNP	1.000	G
PTPN22	26191	genome.wustl.edu	37	1	114400196	114400196	+	Intron	DEL	A	A	-	rs572184624	byFrequency	TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr1:114400196delA	ENST00000359785.5	-	5	544				PTPN22_ENST00000528414.1_Intron|AP4B1-AS1_ENST00000419536.1_RNA|PTPN22_ENST00000538253.1_Intron|PTPN22_ENST00000534519.1_Intron|PTPN22_ENST00000525799.1_Intron|PTPN22_ENST00000460620.1_Intron|PTPN22_ENST00000420377.2_Intron	NM_001193431.1|NM_015967.5	NP_001180360.1|NP_057051	Q9Y2R2	PTN22_HUMAN	protein tyrosine phosphatase, non-receptor type 22 (lymphoid)						negative regulation of T cell activation (GO:0050868)|negative regulation of T cell receptor signaling pathway (GO:0050860)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphoanandamide dephosphorylation (GO:0035644)|protein dephosphorylation (GO:0006470)|regulation of B cell receptor signaling pathway (GO:0050855)|regulation of innate immune response (GO:0045088)|regulation of natural killer cell proliferation (GO:0032817)|T cell differentiation (GO:0030217)	cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	kinase binding (GO:0019900)|protein tyrosine phosphatase activity (GO:0004725)|SH3 domain binding (GO:0017124)			NS(1)|breast(1)|kidney(3)|large_intestine(4)|lung(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	21	Lung SC(450;0.184)	all_cancers(81;1.93e-08)|all_epithelial(167;4.37e-08)|all_lung(203;5.22e-06)|Lung NSC(69;8.94e-06)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TTCTTAGGAGAAAAAAAAAAT	0.343														4	0.000798722	0.0	0.0014	5008	,	,		17311	0.002		0.0	False		,,,				2504	0.001																0																																										SO:0001627	intron_variant	100287722			AF001846	CCDS863.1, CCDS864.1, CCDS864.2	1p13.2	2011-06-09	2005-02-02		ENSG00000134242	ENSG00000134242		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9652	protein-coding gene	gene with protein product		600716	"""protein tyrosine phosphatase, non-receptor type 8"""	PTPN8		10068674, 1373816	Standard	NM_015967		Approved	Lyp, Lyp1, Lyp2	uc001eds.3	Q9Y2R2	OTTHUMG00000011936	ENST00000359785.5:c.408+163T>-	1.37:g.114400196delA		Somatic		WXS	Illumina HiSeq	Phase_IV	A0N0K6|B1ALC8|D4NZ71|E9PLD8|E9PPI1|O95063|O95064|Q6IPX8|Q8WVM1	RNA	DEL	-	NULL	ENST00000359785.5	37	NULL	CCDS863.1	1																																																																																			AP4B1-AS1	-	-		0.343	PTPN22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AP4B1-AS1	HGNC	protein_coding	OTTHUMT00000033015.1	A	NM_015967		114400196	+1	no_errors	ENST00000419536	ensembl	human	known	70_37	rna	DEL	0.000	-
AP4B1	10717	genome.wustl.edu	37	1	114442773	114442773	+	Silent	SNP	G	G	A			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr1:114442773G>A	ENST00000369569.1	-	5	1147	c.867C>T	c.(865-867)agC>agT	p.S289S	AP4B1-AS1_ENST00000419536.1_RNA|AP4B1_ENST00000369566.3_Silent_p.S196S|AP4B1_ENST00000462591.1_5'Flank|AP4B1_ENST00000369567.1_Silent_p.S121S|AP4B1_ENST00000256658.4_Silent_p.S289S	NM_001253852.1	NP_001240781.1	Q9Y6B7	AP4B1_HUMAN	adaptor-related protein complex 4, beta 1 subunit	289					intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	clathrin adaptor complex (GO:0030131)|coated pit (GO:0005905)|trans-Golgi network (GO:0005802)	protein transporter activity (GO:0008565)|transporter activity (GO:0005215)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|ovary(3)|prostate(3)	25	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.1e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		AGAGCTCACGGCTCTCTGAAG	0.448																																																	0													74.0	81.0	79.0					1																	114442773		2203	4300	6503	SO:0001819	synonymous_variant	10717			AF092094	CCDS865.1	1p13.2	2012-03-30			ENSG00000134262	ENSG00000134262			572	protein-coding gene	gene with protein product	"""beta 4 subunit of AP-4"""	607245	"""spastic paraplegia 47"""	SPG47		10066790	Standard	NM_006594		Approved	BETA-4	uc001eeb.3	Q9Y6B7	OTTHUMG00000011943	ENST00000369569.1:c.867C>T	1.37:g.114442773G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	B7Z4X3|Q59EJ4|Q96CL6	Silent	SNP	pfam_Clathrin/coatomer_adapt-like_N,pfam_B-adaptin_app_sub_C,superfamily_ARM-type_fold,superfamily_Coatomer/calthrin_app_sub_C,pirsf_AP_complex_bsu_1_2_4	p.S289	ENST00000369569.1	37	c.867	CCDS865.1	1																																																																																			AP4B1	-	pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_AP_complex_bsu_1_2_4		0.448	AP4B1-009	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	AP4B1	HGNC	protein_coding	OTTHUMT00000033037.1	G	NM_006594		114442773	-1	no_errors	ENST00000256658	ensembl	human	known	70_37	silent	SNP	1.000	A
APH1A	51107	genome.wustl.edu	37	1	150239367	150239367	+	Intron	SNP	C	C	T			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr1:150239367C>T	ENST00000369109.3	-	5	798				C1orf54_ENST00000369102.1_5'Flank|APH1A_ENST00000414276.2_Intron|APH1A_ENST00000360244.4_Intron|APH1A_ENST00000461320.1_Intron	NM_001077628.2	NP_001071096.1	Q96BI3	APH1A_HUMAN	APH1A gamma secretase subunit						amyloid precursor protein catabolic process (GO:0042987)|apoptotic signaling pathway (GO:0097190)|membrane protein ectodomain proteolysis (GO:0006509)|membrane protein intracellular domain proteolysis (GO:0031293)|metanephros development (GO:0001656)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|positive regulation of apoptotic process (GO:0043065)|positive regulation of catalytic activity (GO:0043085)|protein processing (GO:0016485)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	endopeptidase activity (GO:0004175)			breast(1)|lung(4)|ovary(1)|skin(1)|urinary_tract(2)	9	Lung NSC(24;7.29e-29)|Breast(34;0.00211)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)			CTTTCCTCCTCCTCCCAGGTA	0.468																																																	0																																										SO:0001627	intron_variant	51107			AF151835	CCDS41390.1, CCDS41391.1, CCDS58025.1	1q21.2	2013-05-01	2013-05-01		ENSG00000117362	ENSG00000117362			29509	protein-coding gene	gene with protein product		607629	"""anterior pharynx defective 1 homolog A (C. elegans)"""			10810093, 12110170	Standard	NM_001077628		Approved	APH-1A, CGI-78	uc001ety.2	Q96BI3	OTTHUMG00000012545	ENST00000369109.3:c.609+107G>A	1.37:g.150239367C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B4DQK0|Q5TB22|Q5TB23|Q969R6|Q9BVG0|Q9Y386	RNA	SNP	-	NULL	ENST00000369109.3	37	NULL	CCDS41390.1	1																																																																																			APH1A	-	-		0.468	APH1A-002	KNOWN	basic|CCDS	protein_coding	APH1A	HGNC	protein_coding	OTTHUMT00000035048.1	C	NM_016022		150239367	-1	no_errors	ENST00000486308	ensembl	human	known	70_37	rna	SNP	0.504	T
APH1B	83464	genome.wustl.edu	37	15	63571440	63571440	+	Missense_Mutation	SNP	G	G	A	rs202211152		TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr15:63571440G>A	ENST00000261879.5	+	2	264	c.194G>A	c.(193-195)gGa>gAa	p.G65E	APH1B_ENST00000380343.4_Missense_Mutation_p.G65E	NM_001145646.1|NM_031301.3	NP_001139118.1|NP_112591.2	Q8WW43	APH1B_HUMAN	APH1B gamma secretase subunit	65					apoptotic signaling pathway (GO:0097190)|membrane protein intracellular domain proteolysis (GO:0031293)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|positive regulation of apoptotic process (GO:0043065)|positive regulation of catalytic activity (GO:0043085)|protein processing (GO:0016485)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|transport vesicle (GO:0030133)	peptidase activity (GO:0008233)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(3)|stomach(1)|upper_aerodigestive_tract(1)	12						AACAAAGATGGACCAACACAG	0.363																																																	0													178.0	169.0	172.0					15																	63571440		2203	4300	6503	SO:0001583	missense	83464			AY358698	CCDS10184.1, CCDS45276.1	15q22.2	2013-05-01	2013-05-01		ENSG00000138613	ENSG00000138613			24080	protein-coding gene	gene with protein product		607630	"""anterior pharynx defective 1 homolog B (C. elegans)"""			12110170, 11230166	Standard	NM_031301		Approved	PSFL, APH-1B, DKFZp564D0372	uc002ama.3	Q8WW43	OTTHUMG00000132863	ENST00000261879.5:c.194G>A	15.37:g.63571440G>A	ENSP00000261879:p.Gly65Glu	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K589|Q564N3|Q6UWQ1|Q9H0S0	Missense_Mutation	SNP	pfam_Aph-1	p.G65E	ENST00000261879.5	37	c.194	CCDS10184.1	15	.	.	.	.	.	.	.	.	.	.	G	0.037	-1.303590	0.01353	.	.	ENSG00000138613	ENST00000380343;ENST00000261879	T;T	0.42513	1.02;0.97	4.64	-3.22	0.05125	.	0.137090	0.46758	N	0.000274	T	0.15478	0.0373	N	0.05124	-0.11	0.25656	N	0.986051	B;B	0.15719	0.014;0.01	B;B	0.19666	0.019;0.026	T	0.14924	-1.0455	10	0.24483	T	0.36	-0.0645	5.5964	0.17329	0.3803:0.3676:0.2521:0.0	.	65;65	Q564N3;Q8WW43	.;APH1B_HUMAN	E	65	ENSP00000369700:G65E;ENSP00000261879:G65E	ENSP00000261879:G65E	G	+	2	0	APH1B	61358493	0.000000	0.05858	0.104000	0.21259	0.140000	0.21249	-0.221000	0.09202	-0.184000	0.10567	0.462000	0.41574	GGA	APH1B	-	pfam_Aph-1		0.363	APH1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	APH1B	HGNC	protein_coding	OTTHUMT00000256337.1	G	NM_031301		63571440	+1	no_errors	ENST00000261879	ensembl	human	known	70_37	missense	SNP	0.059	A
LVRN	206338	genome.wustl.edu	37	5	115327936	115327936	+	Silent	SNP	C	C	T			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr5:115327936C>T	ENST00000357872.4	+	5	1346	c.1222C>T	c.(1222-1224)Ctg>Ttg	p.L408L	AQPEP_ENST00000395528.2_5'UTR	NM_173800.4	NP_776161.3	Q6Q4G3	AMPQ_HUMAN		408						integral component of membrane (GO:0016021)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)										AAAAAAGACTCTGATCTCCTA	0.383																																																	0													146.0	154.0	152.0					5																	115327936		2202	4300	6502	SO:0001819	synonymous_variant	206338																														ENST00000357872.4:c.1222C>T	5.37:g.115327936C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A8K6J0|C9JGD2|Q32MR1|Q4G0I9|Q4G0V2|Q86XA3|Q8NBZ2	Silent	SNP	pfam_Peptidase_M1_N,prints_Peptidase_M1_N	p.L408	ENST00000357872.4	37	c.1222	CCDS4124.1	5																																																																																			AQPEP	-	pfam_Peptidase_M1_N		0.383	AQPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AQPEP	Uniprot_genename	protein_coding	OTTHUMT00000250852.1	C			115327936	+1	no_errors	ENST00000357872	ensembl	human	known	70_37	silent	SNP	0.000	T
ARAP2	116984	genome.wustl.edu	37	4	36160435	36160435	+	Missense_Mutation	SNP	G	G	A			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr4:36160435G>A	ENST00000303965.4	-	15	3158	c.2669C>T	c.(2668-2670)tCc>tTc	p.S890F		NM_015230.3	NP_056045.2	Q8WZ64	ARAP2_HUMAN	ArfGAP with RhoGAP domain, ankyrin repeat and PH domain 2	890	PH 3. {ECO:0000255|PROSITE- ProRule:PRU00145}.				regulation of ARF GTPase activity (GO:0032312)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	ARF GTPase activator activity (GO:0008060)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(32)|ovary(2)|pancreas(1)|prostate(3)|skin(7)|urinary_tract(1)	82						TGTGGACTGGGAAGACTCTTG	0.343																																																	0													45.0	47.0	47.0					4																	36160435		2202	4298	6500	SO:0001583	missense	116984			AF411982	CCDS3441.1	4p15.1	2013-01-11	2008-09-22	2008-09-22	ENSG00000047365	ENSG00000047365		"""ADP-ribosylation factor GTPase activating proteins"", ""Sterile alpha motif (SAM) domain containing"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	16924	protein-coding gene	gene with protein product		606645	"""centaurin, delta 1"""	CENTD1			Standard	NM_015230		Approved	PARX	uc003gsq.2	Q8WZ64	OTTHUMG00000097811	ENST00000303965.4:c.2669C>T	4.37:g.36160435G>A	ENSP00000302895:p.Ser890Phe	Somatic		WXS	Illumina HiSeq	Phase_IV	Q4W5D2|Q7Z2L5|Q96L70|Q96P49|Q9Y4E4	Missense_Mutation	SNP	pfam_RhoGAP_dom,pfam_Pleckstrin_homology,pfam_ArfGAP,pfam_SAM_type1,pfam_SAM_2,pfam_Ras-assoc,superfamily_Rho_GTPase_activation_prot,superfamily_SAM/pointed,smart_SAM,smart_Pleckstrin_homology,smart_ArfGAP,smart_RhoGAP_dom,pfscan_Pleckstrin_homology,pfscan_Ras-assoc,pfscan_SAM,pfscan_ArfGAP,pfscan_RhoGAP_dom,prints_ArfGAP	p.S890F	ENST00000303965.4	37	c.2669	CCDS3441.1	4	.	.	.	.	.	.	.	.	.	.	G	12.78	2.041347	0.35989	.	.	ENSG00000047365	ENST00000303965	D	0.93488	-3.23	6.17	2.4	0.29515	Pleckstrin homology domain (1);	1.127800	0.06413	N	0.721011	D	0.93475	0.7918	L	0.44542	1.39	0.09310	N	1	P	0.37612	0.602	P	0.45377	0.478	T	0.82725	-0.0315	10	0.36615	T	0.2	.	17.4297	0.87536	0.0:0.4711:0.5289:0.0	.	890	Q8WZ64	ARAP2_HUMAN	F	890	ENSP00000302895:S890F	ENSP00000302895:S890F	S	-	2	0	ARAP2	35836830	0.159000	0.22864	0.003000	0.11579	0.497000	0.33675	1.486000	0.35530	0.135000	0.18707	0.655000	0.94253	TCC	ARAP2	-	pfscan_Pleckstrin_homology		0.343	ARAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARAP2	HGNC	protein_coding	OTTHUMT00000215074.2	G	NM_015230		36160435	-1	no_errors	ENST00000303965	ensembl	human	known	70_37	missense	SNP	0.025	A
ARF6	382	genome.wustl.edu	37	14	50360595	50360595	+	Silent	SNP	C	C	T			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr14:50360595C>T	ENST00000298316.5	+	2	688	c.141C>T	c.(139-141)ttC>ttT	p.F47F		NM_001663.3	NP_001654.1	P62330	ARF6_HUMAN	ADP-ribosylation factor 6	47					cell adhesion (GO:0007155)|cell cycle (GO:0007049)|cell division (GO:0051301)|cellular component movement (GO:0006928)|cortical actin cytoskeleton organization (GO:0030866)|establishment of epithelial cell polarity (GO:0090162)|GTP catabolic process (GO:0006184)|hepatocyte apoptotic process (GO:0097284)|liver development (GO:0001889)|myeloid cell apoptotic process (GO:0033028)|negative regulation of receptor-mediated endocytosis (GO:0048261)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|protein localization to cell surface (GO:0034394)|protein localization to endosome (GO:0036010)|protein transport (GO:0015031)|regulation of dendritic spine development (GO:0060998)|regulation of filopodium assembly (GO:0051489)|regulation of Rac protein signal transduction (GO:0035020)|ruffle organization (GO:0031529)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	cell cortex (GO:0005938)|early endosome (GO:0005769)|endocytic vesicle (GO:0030139)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|plasma membrane (GO:0005886)|recycling endosome membrane (GO:0055038)|ruffle (GO:0001726)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|thioesterase binding (GO:0031996)			endometrium(1)|kidney(1)|large_intestine(1)|ovary(1)	4	all_epithelial(31;0.000822)|Breast(41;0.0117)					CTGTGGGTTTCAACGTGGAGA	0.562																																																	0													84.0	77.0	79.0					14																	50360595		2203	4300	6503	SO:0001819	synonymous_variant	382				CCDS9695.1	14q21.3	2004-06-21			ENSG00000165527	ENSG00000165527		"""ADP-ribosylation factors"""	659	protein-coding gene	gene with protein product		600464				1993656, 10343114	Standard	NM_001663		Approved		uc001wxg.4	P62330	OTTHUMG00000140296	ENST00000298316.5:c.141C>T	14.37:g.50360595C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	P26438|Q6FGZ2	Silent	SNP	pfam_Small_GTPase_ARF/SAR,pfam_Small_GTPase,pfam_SRP_receptor_beta_su,pfam_Gprotein_alpha_su,pfam_Gtr1_RagA,pfam_MIRO-like,smart_Small_GTPase_SAR1,smart_Small_GTPase_ARF,smart_Small_GTPase_Rab_type,prints_Small_GTPase_ARF/SAR,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.F47	ENST00000298316.5	37	c.141	CCDS9695.1	14																																																																																			ARF6	-	pfam_Small_GTPase_ARF/SAR,pfam_Small_GTPase,pfam_SRP_receptor_beta_su,pfam_Gprotein_alpha_su,pfam_Gtr1_RagA,pfam_MIRO-like,smart_Small_GTPase_SAR1,smart_Small_GTPase_ARF,smart_Small_GTPase_Rab_type,prints_Small_GTPase_ARF/SAR,tigrfam_Small_GTP-bd_dom		0.562	ARF6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARF6	HGNC	protein_coding	OTTHUMT00000276883.1	C	NM_001663		50360595	+1	no_errors	ENST00000298316	ensembl	human	known	70_37	silent	SNP	1.000	T
ARFGAP3	26286	genome.wustl.edu	37	22	43213779	43213780	+	Frame_Shift_Ins	INS	-	-	T	rs552164906		TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr22:43213779_43213780insT	ENST00000263245.5	-	10	1115_1116	c.896_897insA	c.(895-897)aatfs	p.N299fs	ARFGAP3_ENST00000429508.2_Frame_Shift_Ins_p.N227fs|ARFGAP3_ENST00000437119.2_Frame_Shift_Ins_p.N255fs	NM_001142293.1|NM_014570.4	NP_001135765.1|NP_055385.3	Q9NP61	ARFG3_HUMAN	ADP-ribosylation factor GTPase activating protein 3	299					intracellular protein transport (GO:0006886)|positive regulation of GTPase activity (GO:0043547)|protein secretion (GO:0009306)|regulation of ARF GTPase activity (GO:0032312)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	ARF GTPase activator activity (GO:0008060)|protein transporter activity (GO:0008565)|zinc ion binding (GO:0008270)			breast(3)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(1)	11						CTGAGTCAACATTTTTTTTGCC	0.361																																					GBM(58;544 1030 21460 27159 48838)												0																																										SO:0001589	frameshift_variant	26286			AK002083	CCDS14042.1, CCDS46722.1	22q13.2	2009-11-30	2002-08-20	2002-08-23	ENSG00000242247	ENSG00000242247		"""ADP-ribosylation factor GTPase activating proteins"""	661	protein-coding gene	gene with protein product		612439	"""ADP-ribosylation factor GTPase activating protein 1"""	ARFGAP1		10704287, 11172815	Standard	NM_014570		Approved		uc003bdd.2	Q9NP61	OTTHUMG00000150718	ENST00000263245.5:c.897dupA	22.37:g.43213787_43213787dupT	ENSP00000263245:p.Asn299fs	Somatic		WXS	Illumina HiSeq	Phase_IV	E9PB03|Q9BSC6|Q9H9J0|Q9NT10|Q9NUP5|Q9Y4V3|Q9Y4V4	Frame_Shift_Ins	INS	pfam_ArfGAP,smart_ArfGAP,pfscan_ArfGAP,prints_ArfGAP	p.N299fs	ENST00000263245.5	37	c.897_896	CCDS14042.1	22																																																																																			ARFGAP3	-	NULL		0.361	ARFGAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARFGAP3	HGNC	protein_coding	OTTHUMT00000319747.2	-	NM_014570		43213780	-1	no_errors	ENST00000263245	ensembl	human	known	70_37	frame_shift_ins	INS	0.000:0.002	T
ARFGEF1	10565	genome.wustl.edu	37	8	68130069	68130069	+	Missense_Mutation	SNP	C	C	T			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr8:68130069C>T	ENST00000262215.3	-	32	4950	c.4561G>A	c.(4561-4563)Gat>Aat	p.D1521N	ARFGEF1_ENST00000518230.1_Missense_Mutation_p.D359N|ARFGEF1_ENST00000520381.1_Missense_Mutation_p.D975N	NM_006421.4	NP_006412.2	Q9Y6D6	BIG1_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 1 (brefeldin A-inhibited)	1521					endomembrane system organization (GO:0010256)|exocytosis (GO:0006887)|Golgi organization (GO:0007030)|negative regulation of actin filament polymerization (GO:0030837)|negative regulation of Rho GTPase activity (GO:0034259)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein glycosylation in Golgi (GO:0090284)|positive regulation of wound healing (GO:0090303)|protein transport (GO:0015031)|regulation of ARF protein signal transduction (GO:0032012)|regulation of establishment of cell polarity (GO:2000114)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|small nuclear ribonucleoprotein complex (GO:0030532)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|guanyl-nucleotide exchange factor activity (GO:0005085)|myosin binding (GO:0017022)|protein kinase A regulatory subunit binding (GO:0034237)			breast(1)|endometrium(14)|kidney(4)|large_intestine(17)|lung(20)|ovary(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.0043)|OV - Ovarian serous cystadenocarcinoma(28;0.00578)|all cancers(69;0.0173)|BRCA - Breast invasive adenocarcinoma(89;0.206)			CAAGTTTTATCCCAGATTTCT	0.338																																																	0													102.0	101.0	102.0					8																	68130069		2203	4300	6503	SO:0001583	missense	10565			AF084520	CCDS6199.1	8q13	2011-08-18	2011-08-18		ENSG00000066777	ENSG00000066777			15772	protein-coding gene	gene with protein product		604141				10212200, 8917509	Standard	NM_006421		Approved	DKFZP434L057, BIG1, ARFGEP1, p200	uc003xxo.2	Q9Y6D6	OTTHUMG00000164626	ENST00000262215.3:c.4561G>A	8.37:g.68130069C>T	ENSP00000262215:p.Asp1521Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	Q9NV46|Q9UFV2|Q9UNL0	Missense_Mutation	SNP	pfam_Sec7,pfam_DUF1981_SEC7_assoc,superfamily_Sec7,superfamily_ARM-type_fold,smart_Sec7,pfscan_Sec7	p.D1521N	ENST00000262215.3	37	c.4561	CCDS6199.1	8	.	.	.	.	.	.	.	.	.	.	C	20.5	4.001362	0.74818	.	.	ENSG00000066777	ENST00000520381;ENST00000262215;ENST00000518230	T;T;T	0.52526	0.66;0.66;0.66	5.48	5.48	0.80851	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.47930	0.1472	L	0.53561	1.675	0.80722	D	1	B;B;B	0.17038	0.02;0.012;0.005	B;B;B	0.16722	0.016;0.009;0.005	T	0.34453	-0.9828	10	0.35671	T	0.21	.	19.7024	0.96060	0.0:1.0:0.0:0.0	.	1521;999;975	Q9Y6D6;Q59FY5;E5RIF2	BIG1_HUMAN;.;.	N	975;1521;359	ENSP00000428429:D975N;ENSP00000262215:D1521N;ENSP00000430891:D359N	ENSP00000262215:D1521N	D	-	1	0	ARFGEF1	68292623	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.776000	0.85560	2.724000	0.93272	0.655000	0.94253	GAT	ARFGEF1	-	superfamily_ARM-type_fold		0.338	ARFGEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARFGEF1	HGNC	protein_coding	OTTHUMT00000379441.4	C	NM_006421		68130069	-1	no_errors	ENST00000262215	ensembl	human	known	70_37	missense	SNP	1.000	T
ARFGEF2	10564	genome.wustl.edu	37	20	47592687	47592687	+	Missense_Mutation	SNP	T	T	G			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr20:47592687T>G	ENST00000371917.4	+	14	1909	c.1909T>G	c.(1909-1911)Ttt>Gtt	p.F637V		NM_006420.2	NP_006411.2	Q9Y6D5	BIG2_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited)	637					endomembrane system organization (GO:0010256)|endosome organization (GO:0007032)|exocytosis (GO:0006887)|Golgi to plasma membrane transport (GO:0006893)|intracellular signal transduction (GO:0035556)|positive regulation of GTPase activity (GO:0043547)|positive regulation of tumor necrosis factor production (GO:0032760)|protein transport (GO:0015031)|receptor recycling (GO:0001881)|regulation of ARF protein signal transduction (GO:0032012)|vesicle-mediated transport (GO:0016192)	asymmetric synapse (GO:0032279)|axonemal microtubule (GO:0005879)|cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|Golgi membrane (GO:0000139)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|recycling endosome (GO:0055037)|symmetric synapse (GO:0032280)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|GABA receptor binding (GO:0050811)|guanyl-nucleotide exchange factor activity (GO:0005085)|protein kinase A regulatory subunit binding (GO:0034237)			breast(7)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	63			BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198)			CCCTGAGCAATTTGAGGTCAT	0.502																																					Esophageal Squamous(176;1738 1974 26285 33069 35354)												0													107.0	81.0	90.0					20																	47592687		2203	4300	6503	SO:0001583	missense	10564			AF084521	CCDS13411.1	20q13.13	2010-08-20			ENSG00000124198	ENSG00000124198		"""A-kinase anchor proteins"""	15853	protein-coding gene	gene with protein product	"""Brefeldin A-inhibited guanine nucleotide-exchange protein 2"""	605371				10212200	Standard	NM_006420		Approved	BIG2	uc002xtx.4	Q9Y6D5	OTTHUMG00000032687	ENST00000371917.4:c.1909T>G	20.37:g.47592687T>G	ENSP00000360985:p.Phe637Val	Somatic		WXS	Illumina HiSeq	Phase_IV	Q5TFT9|Q9NTS1	Missense_Mutation	SNP	pfam_Sec7,pfam_DUF1981_SEC7_assoc,superfamily_Sec7,superfamily_ARM-type_fold,smart_Sec7,pfscan_Sec7	p.F637V	ENST00000371917.4	37	c.1909	CCDS13411.1	20	.	.	.	.	.	.	.	.	.	.	T	21.0	4.089066	0.76756	.	.	ENSG00000124198	ENST00000538445;ENST00000371917	T	0.76186	-1.0	5.79	5.79	0.91817	Armadillo-type fold (1);SEC7-like (2);	0.225320	0.48286	D	0.000188	T	0.78991	0.4371	M	0.74881	2.28	0.80722	D	1	P	0.45827	0.867	P	0.45794	0.493	T	0.82210	-0.0570	10	0.72032	D	0.01	.	16.1354	0.81481	0.0:0.0:0.0:1.0	.	637	Q9Y6D5	BIG2_HUMAN	V	637	ENSP00000360985:F637V	ENSP00000360985:F637V	F	+	1	0	ARFGEF2	47026094	1.000000	0.71417	1.000000	0.80357	0.805000	0.45488	8.015000	0.88690	2.207000	0.71202	0.533000	0.62120	TTT	ARFGEF2	-	superfamily_Sec7,superfamily_ARM-type_fold,pfscan_Sec7		0.502	ARFGEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARFGEF2	HGNC	protein_coding	OTTHUMT00000079627.1	T	NM_006420		47592687	+1	no_errors	ENST00000371917	ensembl	human	known	70_37	missense	SNP	1.000	G
ARHGAP21	57584	genome.wustl.edu	37	10	24909833	24909833	+	Missense_Mutation	SNP	G	G	A			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr10:24909833G>A	ENST00000396432.2	-	9	1477	c.991C>T	c.(991-993)Cat>Tat	p.H331Y	ARHGAP21_ENST00000320481.6_Missense_Mutation_p.H118Y	NM_020824.3	NP_065875.3	Q5T5U3	RHG21_HUMAN	Rho GTPase activating protein 21	330					establishment of Golgi localization (GO:0051683)|Golgi organization (GO:0007030)|maintenance of Golgi location (GO:0051684)|organelle transport along microtubule (GO:0072384)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(17)|lung(21)|ovary(7)|pancreas(1)|prostate(5)|skin(2)|stomach(2)|urinary_tract(1)	78						GCAGGCTGATGAATTAGATGA	0.433																																																	0													139.0	140.0	140.0					10																	24909833		2203	4300	6503	SO:0001583	missense	57584			AF480466	CCDS7144.2	10p12.31	2013-01-10			ENSG00000107863	ENSG00000107863		"""Rho GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"""	23725	protein-coding gene	gene with protein product		609870				12056806	Standard	NM_020824		Approved	KIAA1424, ARHGAP10	uc001isb.2	Q5T5U3	OTTHUMG00000017825	ENST00000396432.2:c.991C>T	10.37:g.24909833G>A	ENSP00000379709:p.His331Tyr	Somatic		WXS	Illumina HiSeq	Phase_IV	Q0VF98|Q7Z3P7|Q8N3A2|Q8NI19|Q8TBV5|Q9P2C3	Missense_Mutation	SNP	pfam_RhoGAP_dom,pfam_Pleckstrin_homology,pfam_PDZ,superfamily_Rho_GTPase_activation_prot,superfamily_PDZ,smart_PDZ,smart_Pleckstrin_homology,smart_RhoGAP_dom,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_RhoGAP_dom	p.H331Y	ENST00000396432.2	37	c.991	CCDS7144.2	10	.	.	.	.	.	.	.	.	.	.	G	14.86	2.660062	0.47572	.	.	ENSG00000107863	ENST00000396432;ENST00000447364;ENST00000320481;ENST00000376410;ENST00000446003;ENST00000445703	T;T;T;T	0.46451	2.83;2.91;0.87;0.88	5.35	5.35	0.76521	.	0.342027	0.31760	N	0.007118	T	0.50871	0.1641	L	0.42245	1.32	0.32700	N	0.512962	D;P	0.53619	0.961;0.934	P;B	0.52909	0.713;0.34	T	0.58498	-0.7626	10	0.49607	T	0.09	.	19.4375	0.94801	0.0:0.0:1.0:0.0	.	321;330	F8W9U9;Q5T5U3	.;RHG21_HUMAN	Y	331;320;118;321;331;166	ENSP00000379709:H331Y;ENSP00000365604:H118Y;ENSP00000365592:H321Y;ENSP00000405018:H331Y	ENSP00000365604:H118Y	H	-	1	0	ARHGAP21	24949839	1.000000	0.71417	0.604000	0.28916	0.566000	0.35808	5.241000	0.65384	2.686000	0.91538	0.650000	0.86243	CAT	ARHGAP21	-	NULL		0.433	ARHGAP21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGAP21	HGNC	protein_coding	OTTHUMT00000047229.4	G	NM_020824		24909833	-1	no_errors	ENST00000396432	ensembl	human	known	70_37	missense	SNP	0.986	A
ARHGAP23	57636	genome.wustl.edu	37	17	36654048	36654048	+	Missense_Mutation	SNP	G	G	A			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr17:36654048G>A	ENST00000431231.2	+	21	3366	c.3298G>A	c.(3298-3300)Gaa>Aaa	p.E1100K	ARHGAP23_ENST00000443378.1_Missense_Mutation_p.E1006K|ARHGAP23_ENST00000437668.3_Missense_Mutation_p.E1100K	NM_001199417.1	NP_001186346.1	Q9P227	RHG23_HUMAN	Rho GTPase activating protein 23	1100					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	GTPase activator activity (GO:0005096)			breast(2)|endometrium(8)|kidney(6)|lung(1)|skin(1)|stomach(2)	20						CTTCAGTGACGAAGAGGACAA	0.587																																																	0													38.0	34.0	35.0					17																	36654048		692	1591	2283	SO:0001583	missense	57636			AB040934	CCDS56027.1	17q12	2014-05-06			ENSG00000225485	ENSG00000275832		"""Rho GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"""	29293	protein-coding gene	gene with protein product		610590				10819331, 15254754	Standard	NM_001199417		Approved	KIAA1501	uc021twd.1	Q9P227	OTTHUMG00000188547	ENST00000431231.2:c.3298G>A	17.37:g.36654048G>A	ENSP00000393539:p.Glu1100Lys	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_RhoGAP_dom,pfam_PDZ,pfam_Pleckstrin_homology,superfamily_Rho_GTPase_activation_prot,superfamily_PDZ,smart_PDZ,smart_Pleckstrin_homology,smart_RhoGAP_dom,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_RhoGAP_dom	p.E1100K	ENST00000431231.2	37	c.3298	CCDS56027.1	17	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.44|13.44	2.237711|2.237711	0.39598|0.39598	.|.	.|.	ENSG00000225485|ENSG00000225485	ENST00000437668;ENST00000431231;ENST00000443378|ENST00000548703	T;T;T|.	0.16597|.	2.33;2.71;2.67|.	4.66|4.66	1.5|1.5	0.22942|0.22942	.|.	0.461120|.	0.23266|.	N|.	0.050066|.	T|T	0.41766|0.41766	0.1173|0.1173	L|L	0.54323|0.54323	1.7|1.7	0.09310|0.09310	N|N	1|1	B;B|.	0.24768|.	0.111;0.008|.	B;B|.	0.20384|.	0.029;0.003|.	T|T	0.29912|0.29912	-0.9996|-0.9996	10|5	0.48119|.	T|.	0.1|.	.|.	7.9532|7.9532	0.30027|0.30027	0.3662:0.0:0.6338:0.0|0.3662:0.0:0.6338:0.0	.|.	1100;1100|.	Q9P227;Q9P227-2|.	RHG23_HUMAN;.|.	K|Q	1100;1100;1006|80	ENSP00000394153:E1100K;ENSP00000393539:E1100K;ENSP00000407333:E1006K|.	ENSP00000393539:E1100K|.	E|R	+|+	1|2	0|0	ARHGAP23|ARHGAP23	33907574|33907574	0.995000|0.995000	0.38212|0.38212	0.007000|0.007000	0.13788|0.13788	0.978000|0.978000	0.69477|0.69477	2.331000|2.331000	0.43894|0.43894	0.264000|0.264000	0.21851|0.21851	0.557000|0.557000	0.71058|0.71058	GAA|CGA	ARHGAP23	-	NULL		0.587	ARHGAP23-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ARHGAP23	HGNC	protein_coding	OTTHUMT00000441789.1	G	XM_290799		36654048	+1	no_errors	ENST00000431231	ensembl	human	known	70_37	missense	SNP	0.020	A
ARHGAP27	201176	genome.wustl.edu	37	17	43483117	43483117	+	Silent	SNP	G	G	A			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr17:43483117G>A	ENST00000428638.1	-	2	989	c.990C>T	c.(988-990)gaC>gaT	p.D330D	ARHGAP27_ENST00000376922.2_De_novo_Start_OutOfFrame|ARHGAP27_ENST00000455881.1_De_novo_Start_OutOfFrame|ARHGAP27_ENST00000532891.2_Silent_p.D330D|ARHGAP27_ENST00000528384.1_De_novo_Start_OutOfFrame|ARHGAP27_ENST00000582826.1_5'Flank|ARHGAP27_ENST00000532038.1_Silent_p.D130D|ARHGAP27_ENST00000442348.1_Silent_p.D330D			Q6ZUM4	RHG27_HUMAN	Rho GTPase activating protein 27	330	WW 2. {ECO:0000255|PROSITE- ProRule:PRU00224}.				positive regulation of Cdc42 GTPase activity (GO:0043089)|positive regulation of Rac GTPase activity (GO:0032855)|receptor-mediated endocytosis (GO:0006898)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intracellular (GO:0005622)|membrane (GO:0016020)	Rac GTPase activator activity (GO:0030675)|SH3 domain binding (GO:0017124)			endometrium(4)|large_intestine(9)|lung(3)|skin(1)	17	Renal(3;0.0405)					TCTCGGCCTCGTCCTCCCAGG	0.697																																																	0													22.0	23.0	22.0					17																	43483117		2200	4299	6499	SO:0001819	synonymous_variant	201176			AK125535	CCDS11498.1, CCDS74082.1	17q21.31	2013-01-10			ENSG00000159314	ENSG00000159314		"""Rho GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"""	31813	protein-coding gene	gene with protein product		610591	"""SH3 domain containing 20"""	SH3D20		15147912	Standard	NM_199282		Approved	CAMGAP1, FLJ43547, SH3P20	uc002iix.3	Q6ZUM4	OTTHUMG00000166982	ENST00000428638.1:c.990C>T	17.37:g.43483117G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	A4FU35|A8K3N5|C9JTF3|Q494U0|Q6NWZ8|Q8WY58	Silent	SNP	pfam_RhoGAP_dom,pfam_WW_Rsp5_WWP,pfam_Pleckstrin_homology,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,superfamily_WW_Rsp5_WWP,smart_WW_Rsp5_WWP,smart_Pleckstrin_homology,smart_RhoGAP_dom,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_WW_Rsp5_WWP,pfscan_RhoGAP_dom	p.D330	ENST00000428638.1	37	c.990		17																																																																																			ARHGAP27	-	pfam_WW_Rsp5_WWP,superfamily_WW_Rsp5_WWP,smart_WW_Rsp5_WWP,pfscan_WW_Rsp5_WWP		0.697	ARHGAP27-202	KNOWN	basic	protein_coding	ARHGAP27	HGNC	protein_coding		G	NM_199282		43483117	-1	no_errors	ENST00000428638	ensembl	human	known	70_37	silent	SNP	0.998	A
ARHGAP28	79822	genome.wustl.edu	37	18	6894870	6894870	+	Missense_Mutation	SNP	T	T	G			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr18:6894870T>G	ENST00000383472.4	+	15	1989	c.1885T>G	c.(1885-1887)Tca>Gca	p.S629A	ARHGAP28_ENST00000262227.3_Missense_Mutation_p.S577A|ARHGAP28_ENST00000531294.1_Missense_Mutation_p.S465A|ARHGAP28_ENST00000400091.2_Missense_Mutation_p.S629A|ARHGAP28_ENST00000418986.1_Missense_Mutation_p.S470A|ARHGAP28_ENST00000419673.2_Missense_Mutation_p.S470A|ARHGAP28_ENST00000532996.1_Missense_Mutation_p.S452A|ARHGAP28_ENST00000314319.3_Missense_Mutation_p.S470A			Q9P2N2	RHG28_HUMAN	Rho GTPase activating protein 28	629					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell junction (GO:0030054)|cytosol (GO:0005829)|nucleus (GO:0005634)	GTPase activator activity (GO:0005096)			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(2)	37		Colorectal(10;0.168)				ACTGCAAAAATCACCCTCGGC	0.383																																																	0													120.0	115.0	117.0					18																	6894870		2203	4300	6503	SO:0001583	missense	79822			BC033668	CCDS32785.1	18p11.23	2011-06-29				ENSG00000088756		"""Rho GTPase activating proteins"""	25509	protein-coding gene	gene with protein product		610592				10718198	Standard	NM_001010000		Approved	KIAA1314, FLJ10312	uc002kne.3	Q9P2N2		ENST00000383472.4:c.1885T>G	18.37:g.6894870T>G	ENSP00000372964:p.Ser629Ala	Somatic		WXS	Illumina HiSeq	Phase_IV	A8MQB7|A8MU88|Q6P160|Q8N4T3|Q9NW53	Missense_Mutation	SNP	pfam_RhoGAP_dom,superfamily_Rho_GTPase_activation_prot,smart_RhoGAP_dom,pfscan_RhoGAP_dom	p.S629A	ENST00000383472.4	37	c.1885		18	.	.	.	.	.	.	.	.	.	.	T	12.27	1.886579	0.33348	.	.	ENSG00000088756	ENST00000400091;ENST00000262227;ENST00000419673;ENST00000531294;ENST00000314319;ENST00000418986;ENST00000532996;ENST00000383472	T;T;T;T;T;T	0.08193	3.28;3.24;3.21;3.21;3.21;3.12	4.82	3.63	0.41609	.	0.000000	0.44285	D	0.000465	T	0.06096	0.0158	L	0.39898	1.24	0.29050	N	0.884543	P;B;B;B	0.39782	0.688;0.086;0.064;0.079	B;B;B;B	0.31946	0.138;0.053;0.113;0.032	T	0.19745	-1.0296	10	0.39692	T	0.17	.	7.6739	0.28473	0.2019:0.0:0.0:0.7981	.	629;461;470;577	Q9P2N2;E9PRP2;F6VKJ9;Q9P2N2-2	RHG28_HUMAN;.;.;.	A	629;577;470;465;470;470;461;452	ENSP00000382963:S629A;ENSP00000262227:S577A;ENSP00000392660:S470A;ENSP00000437262:S465A;ENSP00000313506:S470A;ENSP00000406907:S470A	ENSP00000262227:S577A	S	+	1	0	ARHGAP28	6884870	1.000000	0.71417	1.000000	0.80357	0.438000	0.31896	1.892000	0.39748	0.940000	0.37473	0.533000	0.62120	TCA	ARHGAP28	-	NULL		0.383	ARHGAP28-006	NOVEL	basic|appris_principal	protein_coding	ARHGAP28	HGNC	protein_coding	OTTHUMT00000442123.3	T	XM_371108		6894870	+1	no_errors	ENST00000400091	ensembl	human	known	70_37	missense	SNP	1.000	G
ARHGAP32	9743	genome.wustl.edu	37	11	128841051	128841051	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr11:128841051G>A	ENST00000310343.9	-	22	4014	c.4015C>T	c.(4015-4017)Caa>Taa	p.Q1339*	ARHGAP32_ENST00000392657.3_Nonsense_Mutation_p.Q990*|ARHGAP32_ENST00000527272.1_Nonsense_Mutation_p.Q990*|ARHGAP32_ENST00000524655.1_3'UTR	NM_001142685.1	NP_001136157.1	A7KAX9	RHG32_HUMAN	Rho GTPase activating protein 32	1339					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	actin cytoskeleton (GO:0015629)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cell projection (GO:0042995)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|postsynaptic membrane (GO:0045211)	GTPase activator activity (GO:0005096)|phosphatidylinositol binding (GO:0035091)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(12)|lung(28)|ovary(3)|prostate(6)|urinary_tract(3)	60						ACTACTCCTTGAACCTATTGA	0.443																																																	0													61.0	59.0	60.0					11																	128841051		2201	4297	6498	SO:0001587	stop_gained	9743			AB018255	CCDS31718.1, CCDS44769.1	11q24.3	2011-06-29			ENSG00000134909	ENSG00000134909		"""Rho GTPase activating proteins"""	17399	protein-coding gene	gene with protein product		608541				12446789, 12819203, 17663722	Standard	NM_014715		Approved	GRIT, KIAA0712, MGC1892, RICS, GC-GAP	uc009zcp.3	A7KAX9	OTTHUMG00000165774	ENST00000310343.9:c.4015C>T	11.37:g.128841051G>A	ENSP00000310561:p.Gln1339*	Somatic		WXS	Illumina HiSeq	Phase_IV	I7H0B0|O94820|Q86YL6|Q8IUG4|Q9BWG3	Nonsense_Mutation	SNP	pfam_RhoGAP_dom,pfam_SH3_domain,pfam_SH3_2,pfam_Phox,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,superfamily_Phox,smart_SH3_domain,smart_RhoGAP_dom,pfscan_SH3_domain,pfscan_RhoGAP_dom	p.Q1339*	ENST00000310343.9	37	c.4015	CCDS44769.1	11	.	.	.	.	.	.	.	.	.	.	G	38	6.977088	0.97975	.	.	ENSG00000134909	ENST00000310343;ENST00000392657;ENST00000527272	.	.	.	5.95	5.02	0.67125	.	0.734181	0.13222	N	0.404291	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.40728	T	0.16	.	9.682	0.40076	0.0756:0.1431:0.7813:0.0	.	.	.	.	X	1339;990;990	.	ENSP00000310561:Q1339X	Q	-	1	0	ARHGAP32	128346261	0.521000	0.26258	0.191000	0.23289	0.808000	0.45660	3.166000	0.50785	1.465000	0.48006	0.655000	0.94253	CAA	ARHGAP32	-	NULL		0.443	ARHGAP32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGAP32	HGNC	protein_coding	OTTHUMT00000386151.3	G	NM_014715		128841051	-1	no_errors	ENST00000310343	ensembl	human	known	70_37	nonsense	SNP	0.118	A
ARHGAP33	115703	genome.wustl.edu	37	19	36270768	36270768	+	Intron	SNP	G	G	A			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr19:36270768G>A	ENST00000007510.4	+	7	645				ARHGAP33_ENST00000378944.5_Intron|ARHGAP33_ENST00000221905.1_3'UTR|ARHGAP33_ENST00000314737.5_Intron			O14559	RHG33_HUMAN	Rho GTPase activating protein 33						protein transport (GO:0015031)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	phosphatidylinositol binding (GO:0035091)|Rac GTPase activator activity (GO:0030675)			endometrium(7)|large_intestine(8)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	37						gtgccaccacgcccagcACAG	0.557																																																	0																																										SO:0001627	intron_variant	115703			AY044864	CCDS12477.1, CCDS54254.1	19q13.13	2011-06-29	2010-02-19	2010-02-19		ENSG00000004777		"""Rho GTPase activating proteins"""	23085	protein-coding gene	gene with protein product		614902	"""sorting nexin 26"""	SNX26		12297274, 12461558	Standard	NM_052948		Approved	FLJ39019, TCGAP	uc002obs.2	O14559		ENST00000007510.4:c.502-345G>A	19.37:g.36270768G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	O14552|O14560|Q6ZSP6|Q96CP3|Q9NT23	Missense_Mutation	SNP	pfam_Phox,superfamily_Phox	p.A206T	ENST00000007510.4	37	c.616		19	.	.	.	.	.	.	.	.	.	.	G	10.45	1.353199	0.24512	.	.	ENSG00000004777	ENST00000221905	.	.	.	0.627	0.627	0.17675	.	.	.	.	.	T	0.44074	0.1276	.	.	.	0.09310	N	0.999999	D	0.56521	0.976	P	0.52309	0.695	T	0.27872	-1.0061	6	0.49607	T	0.09	.	.	.	.	.	206	O14559-12	.	T	206	.	ENSP00000221905:A206T	A	+	1	0	ARHGAP33	40962608	0.027000	0.19231	0.055000	0.19348	0.460000	0.32559	0.364000	0.20325	0.594000	0.29761	0.313000	0.20887	GCC	ARHGAP33	-	NULL		0.557	ARHGAP33-201	KNOWN	basic	protein_coding	ARHGAP33	HGNC	protein_coding		G	NM_052948		36270768	+1	no_errors	ENST00000221905	ensembl	human	known	70_37	missense	SNP	0.072	A
ARHGEF15	22899	genome.wustl.edu	37	17	8222168	8222168	+	Missense_Mutation	SNP	G	G	A			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr17:8222168G>A	ENST00000361926.3	+	12	2083	c.1973G>A	c.(1972-1974)cGc>cAc	p.R658H	ARHGEF15_ENST00000421050.1_Missense_Mutation_p.R658H|ARHGEF15_ENST00000582060.1_3'UTR|AC135178.7_ENST00000458568.1_RNA	NM_173728.3	NP_776089.2	O94989	ARHGF_HUMAN	Rho guanine nucleotide exchange factor (GEF) 15	658					negative regulation of synapse maturation (GO:2000297)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of stress fiber assembly (GO:0051496)|regulation of catalytic activity (GO:0050790)|retina vasculature morphogenesis in camera-type eye (GO:0061299)	cytoplasm (GO:0005737)|dendrite (GO:0030425)	GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|endometrium(9)|large_intestine(5)|lung(11)|ovary(5)|prostate(3)|skin(2)|urinary_tract(1)	37						TCGCGCCCCCGCTTCACCCCT	0.647																																																	0													137.0	154.0	148.0					17																	8222168		2203	4300	6503	SO:0001583	missense	22899			AB020722	CCDS11139.1	17p13.1	2011-11-16			ENSG00000198844	ENSG00000198844		"""Rho guanine nucleotide exchange factors"""	15590	protein-coding gene	gene with protein product	"""Rho guanine exchange factor (GEF) 15"""	608504				10048485	Standard	NM_173728		Approved	KIAA0915, Vsm-RhoGEF, ARGEF15, FLJ13791, MGC44868	uc002glc.3	O94989	OTTHUMG00000108187	ENST00000361926.3:c.1973G>A	17.37:g.8222168G>A	ENSP00000355026:p.Arg658His	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K6G1|Q8N449|Q9H8B4	Missense_Mutation	SNP	pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain	p.R658H	ENST00000361926.3	37	c.1973	CCDS11139.1	17	.	.	.	.	.	.	.	.	.	.	g	19.76	3.887966	0.72410	.	.	ENSG00000198844	ENST00000361926;ENST00000455564;ENST00000421050	D;D	0.88431	-2.38;-2.38	4.84	4.84	0.62591	Pleckstrin homology-type (1);	0.189224	0.45606	D	0.000344	D	0.88440	0.6437	L	0.29908	0.895	0.41827	D	0.990056	D;D	0.76494	0.999;0.999	P;P	0.62885	0.908;0.908	D	0.87363	0.2345	10	0.45353	T	0.12	-18.8784	8.948	0.35771	0.099:0.0:0.901:0.0	.	658;658	D3DTR7;O94989	.;ARHGF_HUMAN	H	658;448;658	ENSP00000355026:R658H;ENSP00000412505:R658H	ENSP00000355026:R658H	R	+	2	0	ARHGEF15	8162893	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	3.008000	0.49544	2.517000	0.84864	0.561000	0.74099	CGC	ARHGEF15	-	NULL		0.647	ARHGEF15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGEF15	HGNC	protein_coding	OTTHUMT00000226993.2	G	NM_173728		8222168	+1	no_errors	ENST00000361926	ensembl	human	known	70_37	missense	SNP	1.000	A
ARHGEF16	27237	genome.wustl.edu	37	1	3389974	3389974	+	Missense_Mutation	SNP	T	T	C			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr1:3389974T>C	ENST00000378378.4	+	8	1598	c.1193T>C	c.(1192-1194)tTc>tCc	p.F398S	ARHGEF16_ENST00000413250.2_Missense_Mutation_p.F102S|ARHGEF16_ENST00000378371.2_Missense_Mutation_p.F110S|ARHGEF16_ENST00000378373.1_Missense_Mutation_p.F110S	NM_014448.3	NP_055263.2	Q5VV41	ARHGG_HUMAN	Rho guanine nucleotide exchange factor (GEF) 16	398	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.|Required for RHOG activation and mediates interaction with EPHA2.				activation of Cdc42 GTPase activity (GO:0032864)|activation of Rac GTPase activity (GO:0032863)|apoptotic signaling pathway (GO:0097190)|cell chemotaxis (GO:0060326)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	PDZ domain binding (GO:0030165)|receptor tyrosine kinase binding (GO:0030971)|Rho GTPase binding (GO:0017048)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			lung(6)|ovary(1)	7	all_cancers(77;0.00276)|all_epithelial(69;0.00102)|Ovarian(185;0.0634)|Lung NSC(156;0.0969)|all_lung(157;0.101)	all_epithelial(116;7.14e-21)|all_lung(118;2.24e-08)|Lung NSC(185;3.55e-06)|Breast(487;0.000765)|Renal(390;0.00121)|Hepatocellular(190;0.0046)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|Lung SC(97;0.0847)|Medulloblastoma(700;0.211)		Epithelial(90;8.62e-38)|OV - Ovarian serous cystadenocarcinoma(86;3.62e-22)|GBM - Glioblastoma multiforme(42;2.49e-12)|Colorectal(212;4.25e-05)|COAD - Colon adenocarcinoma(227;0.000196)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(365;0.000681)|KIRC - Kidney renal clear cell carcinoma(229;0.00549)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.201)		AACGCCGCCTTCCGAGAGGCC	0.652																																																	0													38.0	51.0	46.0					1																	3389974		2202	4300	6502	SO:0001583	missense	27237			D89016	CCDS46.2	1p36.3	2013-01-10	2010-04-13		ENSG00000130762	ENSG00000130762		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	15515	protein-coding gene	gene with protein product	"""putative neuroblastoma protein"""						Standard	NM_014448		Approved	NBR, GEF16	uc001akg.4	Q5VV41	OTTHUMG00000000625	ENST00000378378.4:c.1193T>C	1.37:g.3389974T>C	ENSP00000367629:p.Phe398Ser	Somatic		WXS	Illumina HiSeq	Phase_IV	Q86TF0|Q99434	Missense_Mutation	SNP	pfam_DH-domain,pfam_SH3_domain,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_SH3_domain,smart_DH-domain,smart_Pleckstrin_homology,smart_SH3_domain,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain	p.F398S	ENST00000378378.4	37	c.1193	CCDS46.2	1	.	.	.	.	.	.	.	.	.	.	T	16.51	3.142408	0.57044	.	.	ENSG00000130762	ENST00000378378;ENST00000378373;ENST00000378371;ENST00000445297;ENST00000418137;ENST00000413250	T;T;T;T;T;T	0.70282	-0.47;-0.47;-0.47;-0.47;-0.47;-0.47	4.18	4.18	0.49190	Dbl homology (DH) domain (5);	0.000000	0.85682	D	0.000000	D	0.86360	0.5914	M	0.91872	3.25	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	D	0.89460	0.3736	10	0.87932	D	0	-44.7357	13.3678	0.60696	0.0:0.0:0.0:1.0	.	102;102;398	B4DJM7;B0QZD4;Q5VV41	.;.;ARHGG_HUMAN	S	398;110;110;110;102;102	ENSP00000367629:F398S;ENSP00000367624:F110S;ENSP00000367622:F110S;ENSP00000411936:F110S;ENSP00000390853:F102S;ENSP00000408887:F102S	ENSP00000367622:F110S	F	+	2	0	ARHGEF16	3379834	1.000000	0.71417	0.941000	0.38009	0.247000	0.25773	7.382000	0.79729	1.754000	0.51921	0.397000	0.26171	TTC	ARHGEF16	-	pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain		0.652	ARHGEF16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGEF16	HGNC	protein_coding	OTTHUMT00000001515.1	T	NM_014448		3389974	+1	no_errors	ENST00000378378	ensembl	human	known	70_37	missense	SNP	1.000	C
ARHGEF40	55701	genome.wustl.edu	37	14	21549035	21549035	+	Missense_Mutation	SNP	C	C	T	rs139243448	byFrequency	TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr14:21549035C>T	ENST00000298694.4	+	13	2627	c.2500C>T	c.(2500-2502)Cgc>Tgc	p.R834C	ARHGEF40_ENST00000298693.3_Missense_Mutation_p.R834C			Q8TER5	ARH40_HUMAN	Rho guanine nucleotide exchange factor (GEF) 40	834						cytoplasm (GO:0005737)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			large_intestine(4)|ovary(3)|upper_aerodigestive_tract(2)	9						TCTCCAGGAGCGCCTGGCCCA	0.642													C|||	2	0.000399361	0.0	0.0	5008	,	,		16679	0.0		0.001	False		,,,				2504	0.001																0								C	CYS/ARG	2,4404	4.2+/-10.8	0,2,2201	55.0	56.0	55.0		2500	5.5	1.0	14	dbSNP_134	55	16,8584	11.9+/-42.8	0,16,4284	yes	missense	ARHGEF40	NM_018071.3	180	0,18,6485	TT,TC,CC		0.186,0.0454,0.1384	probably-damaging	834/1520	21549035	18,12988	2203	4300	6503	SO:0001583	missense	55701				CCDS32041.1	14q11.2	2012-07-24			ENSG00000165801	ENSG00000165801		"""Rho guanine nucleotide exchange factors"""	25516	protein-coding gene	gene with protein product		610018				16143467	Standard	NM_001278529		Approved	solo, FLJ10357	uc001vzp.3	Q8TER5		ENST00000298694.4:c.2500C>T	14.37:g.21549035C>T	ENSP00000298694:p.Arg834Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	A5PL07|Q9BWP5|Q9H7L6|Q9NTF9|Q9NW24	Missense_Mutation	SNP	pfam_DH-domain,superfamily_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain	p.R834C	ENST00000298694.4	37	c.2500	CCDS32041.1	14	.	.	.	.	.	.	.	.	.	.	C	17.57	3.422674	0.62733	4.54E-4	0.00186	ENSG00000165801	ENST00000298694;ENST00000298693	T;T	0.02682	4.26;4.2	5.52	5.52	0.82312	.	0.275017	0.27249	N	0.020228	T	0.03348	0.0097	N	0.24115	0.695	0.44492	D	0.997433	D;D	0.60160	0.987;0.978	B;B	0.43783	0.431;0.333	T	0.59225	-0.7494	10	0.46703	T	0.11	.	14.946	0.71032	0.0:1.0:0.0:0.0	.	834;834	Q8TER5-4;Q8TER5	.;ARH40_HUMAN	C	834	ENSP00000298694:R834C;ENSP00000298693:R834C	ENSP00000298693:R834C	R	+	1	0	ARHGEF40	20618875	0.996000	0.38824	1.000000	0.80357	0.971000	0.66376	1.229000	0.32600	2.576000	0.86940	0.555000	0.69702	CGC	ARHGEF40	-	NULL		0.642	ARHGEF40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGEF40	HGNC	protein_coding	OTTHUMT00000413122.1	C			21549035	+1	no_errors	ENST00000298694	ensembl	human	known	70_37	missense	SNP	1.000	T
ARHGEF9	23229	genome.wustl.edu	37	X	62917102	62917102	+	Missense_Mutation	SNP	A	A	C			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chrX:62917102A>C	ENST00000253401.6	-	4	1264	c.464T>G	c.(463-465)aTc>aGc	p.I155S	ARHGEF9_ENST00000374878.1_Missense_Mutation_p.I153S|ARHGEF9_ENST00000374870.4_Missense_Mutation_p.I53S|ARHGEF9_ENST00000374872.1_Missense_Mutation_p.I134S|ARHGEF9_ENST00000437457.2_Missense_Mutation_p.I102S|ARHGEF9_ENST00000495564.1_5'UTR	NM_015185.2	NP_056000.1	O43307	ARHG9_HUMAN	Cdc42 guanine nucleotide exchange factor (GEF) 9	155	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				apoptotic signaling pathway (GO:0097190)|ion transmembrane transport (GO:0034220)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(14)|ovary(5)|pancreas(1)|skin(1)	35						AAATCTGTAGATATCTTCAAT	0.463																																																	0													123.0	95.0	105.0					X																	62917102		2203	4300	6503	SO:0001583	missense	23229			AB007884	CCDS35315.1, CCDS55429.1, CCDS55430.1	Xq11.1	2013-01-10			ENSG00000131089	ENSG00000131089		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	14561	protein-coding gene	gene with protein product	"""collybistin"""	300429				10559246, 9455477	Standard	NM_015185		Approved	KIAA0424, PEM-2	uc011mot.2	O43307	OTTHUMG00000021700	ENST00000253401.6:c.464T>G	X.37:g.62917102A>C	ENSP00000253401:p.Ile155Ser	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K1S8|B4DHC7|F8W7P8|Q5JSL6	Missense_Mutation	SNP	pfam_DH-domain,pfam_SH3_2,pfam_SH3_domain,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_SH3_domain,smart_SH3_domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain	p.I155S	ENST00000253401.6	37	c.464	CCDS35315.1	X	.	.	.	.	.	.	.	.	.	.	A	20.2	3.947767	0.73787	.	.	ENSG00000131089	ENST00000253401;ENST00000374878;ENST00000437457;ENST00000374870;ENST00000374872	T;T;T;T;T	0.76839	-1.05;-1.05;-1.05;-1.05;-1.05	5.59	4.42	0.53409	Dbl homology (DH) domain (5);	0.000000	0.85682	D	0.000000	D	0.90947	0.7154	H	0.97023	3.925	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.87578	0.998;0.998;0.998;0.998	D	0.91034	0.4866	10	0.87932	D	0	.	9.4941	0.38978	0.9149:0.0:0.0851:0.0	.	102;153;155;155	B4DHC7;B1AMR4;O43307;A8K1S8	.;.;ARHG9_HUMAN;.	S	155;153;102;53;134	ENSP00000253401:I155S;ENSP00000364012:I153S;ENSP00000399994:I102S;ENSP00000364004:I53S;ENSP00000364006:I134S	ENSP00000253401:I155S	I	-	2	0	ARHGEF9	62833827	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	8.729000	0.91490	0.745000	0.32763	0.417000	0.27973	ATC	ARHGEF9	-	pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain		0.463	ARHGEF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGEF9	HGNC	protein_coding	OTTHUMT00000056937.1	A			62917102	-1	no_errors	ENST00000253401	ensembl	human	known	70_37	missense	SNP	1.000	C
ARID2	196528	genome.wustl.edu	37	12	46245685	46245685	+	Missense_Mutation	SNP	A	A	G			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr12:46245685A>G	ENST00000334344.6	+	15	3951	c.3779A>G	c.(3778-3780)gAa>gGa	p.E1260G	ARID2_ENST00000444670.1_Missense_Mutation_p.E870G|ARID2_ENST00000422737.1_Missense_Mutation_p.E1111G|ARID2_ENST00000479608.1_3'UTR|ARID2_ENST00000457135.1_5'Flank	NM_152641.2	NP_689854.2	Q68CP9	ARID2_HUMAN	AT rich interactive domain 2 (ARID, RFX-like)	1260					chromatin modification (GO:0016568)|nucleosome disassembly (GO:0006337)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(3)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(21)|liver(20)|lung(34)|ovary(7)|pancreas(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	116	Lung SC(27;0.192)|Renal(347;0.236)	Lung NSC(34;0.106)|all_lung(34;0.22)	OV - Ovarian serous cystadenocarcinoma(5;0.00691)	GBM - Glioblastoma multiforme(48;0.0153)		CATGTTCATGAACGTAAAATT	0.433			"""N, S, F"""		hepatocellular carcinoma																																			Rec	yes		12	12q12	196528	AT rich interactive domain 2		E	0													69.0	64.0	66.0					12																	46245685		2203	4300	6503	SO:0001583	missense	196528				CCDS31783.1	12q13.11	2013-02-07			ENSG00000189079	ENSG00000189079		"""-"""	18037	protein-coding gene	gene with protein product		609539					Standard	NM_152641		Approved	KIAA1557, DKFZp686G052, FLJ30619, BAF200	uc001ros.1	Q68CP9	OTTHUMG00000150487	ENST00000334344.6:c.3779A>G	12.37:g.46245685A>G	ENSP00000335044:p.Glu1260Gly	Somatic		WXS	Illumina HiSeq	Phase_IV	Q15KG9|Q5EB51|Q645I3|Q6ZRY5|Q7Z3I5|Q86T28|Q96SJ6|Q9HCL5	Missense_Mutation	SNP	pfam_ARID/BRIGHT_DNA-bd,pfam_DNA-bd_RFX,superfamily_ARID/BRIGHT_DNA-bd,superfamily_ARM-type_fold,smart_ARID/BRIGHT_DNA-bd,pfscan_ARID/BRIGHT_DNA-bd	p.E1260G	ENST00000334344.6	37	c.3779	CCDS31783.1	12	.	.	.	.	.	.	.	.	.	.	A	17.72	3.458848	0.63401	.	.	ENSG00000189079	ENST00000334344;ENST00000549153;ENST00000338636;ENST00000422737;ENST00000444670	T	0.55413	0.52	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.64560	0.2609	L	0.32530	0.975	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.85130	0.997;0.997;0.994	T	0.66905	-0.5805	10	0.72032	D	0.01	-16.1568	16.8222	0.85835	1.0:0.0:0.0:0.0	.	1260;870;1260	Q68CP9-3;F8W108;Q68CP9	.;.;ARID2_HUMAN	G	1260;377;377;1111;870	ENSP00000335044:E1260G	ENSP00000335044:E1260G	E	+	2	0	ARID2	44531952	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	8.690000	0.91272	2.371000	0.80710	0.533000	0.62120	GAA	ARID2	-	NULL		0.433	ARID2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARID2	HGNC	protein_coding	OTTHUMT00000318380.2	A	XM_350875		46245685	+1	no_errors	ENST00000334344	ensembl	human	known	70_37	missense	SNP	1.000	G
ARL15	54622	genome.wustl.edu	37	5	53180802	53180803	+	3'UTR	INS	-	-	A			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr5:53180802_53180803insA	ENST00000504924.1	-	0	2296_2297				ARL15_ENST00000502271.1_3'UTR|ARL15_ENST00000510591.2_5'Flank	NM_019087.2	NP_061960.1	Q9NXU5	ARL15_HUMAN	ADP-ribosylation factor-like 15						small GTPase mediated signal transduction (GO:0007264)	extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)	GTP binding (GO:0005525)			endometrium(1)|large_intestine(2)|lung(2)|ovary(1)	6		Lung NSC(810;0.000779)				TTCATGACATTAAAAAAAAAAA	0.297																																																	0																																										SO:0001624	3_prime_UTR_variant	54622			BC026093	CCDS54850.1	5p15.2	2014-05-09	2005-11-03	2005-11-03		ENSG00000185305		"""ADP-ribosylation factors-like"", ""ADP-ribosylation factors"""	25945	protein-coding gene	gene with protein product			"""ADP-ribosylation factor related protein 2"""	ARFRP2		12477932	Standard	NM_019087		Approved	FLJ20051	uc003jpg.1	Q9NXU5		ENST00000504924.1:c.*1589->T	5.37:g.53180813_53180813dupA		Somatic		WXS	Illumina HiSeq	Phase_IV	Q6IAD0	RNA	INS	-	NULL	ENST00000504924.1	37	NULL	CCDS54850.1	5																																																																																			ARL15	-	-		0.297	ARL15-004	KNOWN	basic|appris_principal|CCDS	protein_coding	ARL15	HGNC	protein_coding	OTTHUMT00000368432.2	-	NM_019087		53180803	-1	no_errors	ENST00000502271	ensembl	human	known	70_37	rna	INS	0.002:0.075	A
ARL5A	26225	genome.wustl.edu	37	2	152663369	152663369	+	Missense_Mutation	SNP	G	G	A			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr2:152663369G>A	ENST00000295087.8	-	5	768	c.457C>T	c.(457-459)Cat>Tat	p.H153Y	ARL5A_ENST00000428992.2_Missense_Mutation_p.H116Y	NM_001037174.1|NM_012097.3	NP_001032251.1|NP_036229.1	Q9Y689	ARL5A_HUMAN	ADP-ribosylation factor-like 5A	153					small GTPase mediated signal transduction (GO:0007264)	intracellular (GO:0005622)	GTP binding (GO:0005525)			breast(1)|large_intestine(2)|liver(1)|lung(2)	6				BRCA - Breast invasive adenocarcinoma(221;0.153)		GCCTGGATATGCCACTGGTGA	0.358																																																	0													91.0	83.0	86.0					2																	152663369		2203	4300	6503	SO:0001583	missense	26225			AF100740	CCDS2195.1, CCDS46425.1	2q23.3	2014-05-09	2005-11-03	2005-11-03	ENSG00000162980	ENSG00000162980		"""ADP-ribosylation factors-like"", ""ADP-ribosylation factors"""	696	protein-coding gene	gene with protein product		608960	"""ADP-ribosylation factor-like 5"""	ARL5			Standard	NM_012097		Approved		uc002txx.1	Q9Y689	OTTHUMG00000131887	ENST00000295087.8:c.457C>T	2.37:g.152663369G>A	ENSP00000295087:p.His153Tyr	Somatic		WXS	Illumina HiSeq	Phase_IV	Q580I5	Missense_Mutation	SNP	pfam_Small_GTPase_ARF/SAR,pfam_Small_GTPase,pfam_SRP_receptor_beta_su,pfam_MIRO-like,pfam_Gtr1_RagA,smart_Small_GTPase_SAR1,smart_Small_GTPase_ARF,prints_Small_GTPase_ARF/SAR,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.H153Y	ENST00000295087.8	37	c.457	CCDS2195.1	2	.	.	.	.	.	.	.	.	.	.	G	19.74	3.884177	0.72410	.	.	ENSG00000162980	ENST00000295087;ENST00000452215;ENST00000428992	T;T	0.81247	-1.47;-1.47	5.6	5.6	0.85130	.	0.000000	0.85682	D	0.000000	D	0.84902	0.5575	L	0.48642	1.525	0.80722	D	1	D	0.89917	1.0	D	0.77557	0.99	T	0.78104	-0.2334	10	0.02654	T	1	-18.5083	19.6	0.95557	0.0:0.0:1.0:0.0	.	153	Q9Y689	ARL5A_HUMAN	Y	153;116;116	ENSP00000295087:H153Y;ENSP00000415950:H116Y	ENSP00000295087:H153Y	H	-	1	0	ARL5A	152371615	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	2.640000	0.89533	0.561000	0.74099	CAT	ARL5A	-	pfam_Small_GTPase_ARF/SAR,smart_Small_GTPase_SAR1,smart_Small_GTPase_ARF		0.358	ARL5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARL5A	HGNC	protein_coding	OTTHUMT00000254837.1	G			152663369	-1	no_errors	ENST00000295087	ensembl	human	known	70_37	missense	SNP	1.000	A
ARMC9	80210	genome.wustl.edu	37	2	232079546	232079546	+	Silent	SNP	G	G	A			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr2:232079546G>A	ENST00000349938.4	+	4	374	c.180G>A	c.(178-180)aaG>aaA	p.K60K	ARMC9_ENST00000483477.1_3'UTR	NM_001271466.1|NM_025139.4	NP_001258395.1|NP_079415	Q7Z3E5	ARMC9_HUMAN	armadillo repeat containing 9	60						extracellular vesicular exosome (GO:0070062)				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|ovary(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22		Renal(207;0.0112)|all_lung(227;0.0744)|all_hematologic(139;0.0749)|Acute lymphoblastic leukemia(138;0.167)|Medulloblastoma(418;0.184)|Lung NSC(271;0.205)		Epithelial(121;1.43e-10)|LUSC - Lung squamous cell carcinoma(224;0.017)|Lung(119;0.0189)		CTCCACAGAAGGATCTTGTCG	0.468																																																	0													116.0	104.0	108.0					2																	232079546		2203	4300	6503	SO:0001819	synonymous_variant	80210			BC004514	CCDS2484.1, CCDS74666.1	2q37.1	2013-02-14			ENSG00000135931	ENSG00000135931		"""Armadillo repeat containing"""	20730	protein-coding gene	gene with protein product						11347906	Standard	NM_025139		Approved	FLJ12584, KIAA1868, ARM, KU-MEL-1	uc031rrs.1	Q7Z3E5	OTTHUMG00000133229	ENST00000349938.4:c.180G>A	2.37:g.232079546G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q53TI3|Q6P162|Q7L594|Q86WG2|Q96JF9|Q9H9R8	Silent	SNP	superfamily_ARM-type_fold,smart_LisH_dimerisation,pfscan_LisH_dimerisation	p.K60	ENST00000349938.4	37	c.180	CCDS2484.1	2																																																																																			ARMC9	-	NULL		0.468	ARMC9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARMC9	HGNC	protein_coding	OTTHUMT00000256966.3	G	NM_025139		232079546	+1	no_errors	ENST00000349938	ensembl	human	known	70_37	silent	SNP	1.000	A
ARSK	153642	genome.wustl.edu	37	5	94918715	94918715	+	Missense_Mutation	SNP	G	G	C			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr5:94918715G>C	ENST00000380009.4	+	4	717	c.512G>C	c.(511-513)aGa>aCa	p.R171T		NM_198150.2	NP_937793.1	Q6UWY0	ARSK_HUMAN	arylsulfatase family, member K	171					cellular protein metabolic process (GO:0044267)|glycosphingolipid metabolic process (GO:0006687)|post-translational protein modification (GO:0043687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	arylsulfatase activity (GO:0004065)|metal ion binding (GO:0046872)			endometrium(2)|kidney(1)|large_intestine(3)|lung(8)|pancreas(1)|skin(1)	16		all_cancers(142;3.38e-06)|all_epithelial(76;6.57e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.00473)		all cancers(79;6.5e-16)		ACTAAAGTCAGAGTGATGGAA	0.403																																																	0													148.0	142.0	144.0					5																	94918715		2203	4300	6503	SO:0001583	missense	153642				CCDS4073.1	5q15	2013-02-14	2006-03-07		ENSG00000164291	ENSG00000164291		"""Arylsulfatase family"""	25239	protein-coding gene	gene with protein product		610011	"""arylsulfatase K"""			12975309, 16174644	Standard	NM_198150		Approved	DKFZp313G1735, TSULF	uc003kld.3	Q6UWY0	OTTHUMG00000121166	ENST00000380009.4:c.512G>C	5.37:g.94918715G>C	ENSP00000369346:p.Arg171Thr	Somatic		WXS	Illumina HiSeq	Phase_IV	A2BDE3|B4E1I4|Q3ZCW3|Q8N3Q8	Missense_Mutation	SNP	pfam_Sulfatase,superfamily_Alkaline_phosphatase_core	p.R171T	ENST00000380009.4	37	c.512	CCDS4073.1	5	.	.	.	.	.	.	.	.	.	.	G	14.85	2.657976	0.47467	.	.	ENSG00000164291	ENST00000380009;ENST00000537857	D	0.98602	-5.02	6.02	6.02	0.97574	Alkaline phosphatase-like, alpha/beta/alpha (1);Sulfatase (1);Alkaline-phosphatase-like, core domain (1);	0.042541	0.85682	D	0.000000	D	0.98776	0.9588	M	0.67953	2.075	0.80722	D	1	D	0.89917	1.0	D	0.74348	0.983	D	0.99215	1.0877	10	0.52906	T	0.07	-30.5578	20.5373	0.99239	0.0:0.0:1.0:0.0	.	171	Q6UWY0	ARSK_HUMAN	T	171	ENSP00000369346:R171T	ENSP00000369346:R171T	R	+	2	0	ARSK	94944471	1.000000	0.71417	0.998000	0.56505	0.558000	0.35554	5.910000	0.69931	2.857000	0.98124	0.650000	0.86243	AGA	ARSK	-	pfam_Sulfatase,superfamily_Alkaline_phosphatase_core		0.403	ARSK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARSK	HGNC	protein_coding	OTTHUMT00000241652.2	G	NM_198150		94918715	+1	no_errors	ENST00000380009	ensembl	human	known	70_37	missense	SNP	1.000	C
ARX	170302	genome.wustl.edu	37	X	25031391	25031391	+	Missense_Mutation	SNP	C	C	G			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chrX:25031391C>G	ENST00000379044.4	-	2	931	c.721G>C	c.(721-723)Gag>Cag	p.E241Q		NM_139058.2	NP_620689.1	Q96QS3	ARX_HUMAN	aristaless related homeobox	241	Glu-rich.				axon guidance (GO:0007411)|cell proliferation in forebrain (GO:0021846)|cerebral cortex GABAergic interneuron migration (GO:0021853)|cerebral cortex tangential migration (GO:0021800)|embryonic olfactory bulb interneuron precursor migration (GO:0021831)|epithelial cell fate commitment (GO:0072148)|globus pallidus development (GO:0021759)|lipid digestion (GO:0044241)|positive regulation of organ growth (GO:0046622)|regulation of cell proliferation (GO:0042127)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001206)			kidney(1)|large_intestine(2)|lung(1)	4						agcagttcctcttcctcgtcc	0.726																																																	0													15.0	10.0	12.0					X																	25031391		2076	4071	6147	SO:0001583	missense	170302			AY038071	CCDS14215.1	Xp21.3	2011-06-20			ENSG00000004848	ENSG00000004848		"""Homeoboxes / PRD class"""	18060	protein-coding gene	gene with protein product	"""cancer/testis antigen 121"""	300382	"""mental retardation, X-linked 54"", ""mental retardation, X-linked 43"", ""mental retardation, X-linked 36"", ""mental retardation, X-linked 29"", ""mental retardation, X-linked 32"", ""mental retardation, X-linked 33"", ""mental retardation, X-linked 38"", ""mental retardation, X-linked 87"", ""mental retardation, X-linked 76"""	MRXS1, PRTS, MRX76, MRX54, MRX43, MRX36, MRX29, MRX32, MRX33, MRX38, MRX87		11889467, 15850492, 17480217	Standard	NM_139058		Approved	ISSX, CT121, EIEE1	uc004dbp.4	Q96QS3	OTTHUMG00000021275	ENST00000379044.4:c.721G>C	X.37:g.25031391C>G	ENSP00000368332:p.Glu241Gln	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_Homeodomain,pfam_OAR_dom,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_OAR_dom,pfscan_Homeodomain,prints_Antifreeze_1	p.E241Q	ENST00000379044.4	37	c.721	CCDS14215.1	X	.	.	.	.	.	.	.	.	.	.	c	11.73	1.724881	0.30593	.	.	ENSG00000004848	ENST00000379044	D	0.90133	-2.62	3.93	3.93	0.45458	.	0.000000	0.44483	U	0.000445	D	0.84804	0.5553	L	0.40543	1.245	0.35365	D	0.78854	P	0.49185	0.92	B	0.38056	0.264	D	0.89215	0.3567	10	0.62326	D	0.03	.	12.7619	0.57370	0.0:1.0:0.0:0.0	.	241	Q96QS3	ARX_HUMAN	Q	241	ENSP00000368332:E241Q	ENSP00000368332:E241Q	E	-	1	0	ARX	24941312	0.949000	0.32298	0.995000	0.50966	0.548000	0.35241	1.239000	0.32719	1.555000	0.49500	0.339000	0.21740	GAG	ARX	-	NULL		0.726	ARX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARX	HGNC	protein_coding	OTTHUMT00000056109.1	C			25031391	-1	no_errors	ENST00000379044	ensembl	human	known	70_37	missense	SNP	0.999	G
ASB10	136371	genome.wustl.edu	37	7	150878059	150878059	+	Silent	SNP	G	G	A			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr7:150878059G>A	ENST00000420175.2	-	3	1095	c.1071C>T	c.(1069-1071)ggC>ggT	p.G357G	ASB10_ENST00000434669.1_Silent_p.G402G|ASB10_ENST00000377867.3_Silent_p.G342G|ASB10_ENST00000275838.1_Silent_p.G357G|ASB10_ENST00000422024.1_Silent_p.G402G			Q8WXI3	ASB10_HUMAN	ankyrin repeat and SOCS box containing 10	357					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|endometrium(2)|lung(7)|skin(2)	12			OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CACGGACGGCGCCATGGTTGA	0.697																																																	0													15.0	15.0	15.0					7																	150878059		2194	4265	6459	SO:0001819	synonymous_variant	136371			AK055536	CCDS5921.2, CCDS47749.1, CCDS47750.1, CCDS47749.2, CCDS47750.2	7q35	2014-02-04	2011-01-25		ENSG00000146926	ENSG00000146926		"""Ankyrin repeat domain containing"""	17185	protein-coding gene	gene with protein product		615054	"""ankyrin repeat and SOCS box-containing 10"", ""glaucoma 1, open angle, F (adult-onset)"""	GLC1F		22156576	Standard	NM_080871		Approved		uc003wjm.1	Q8WXI3	OTTHUMG00000157013	ENST00000420175.2:c.1071C>T	7.37:g.150878059G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	A0AVH0|Q6ZUL6	Silent	SNP	pfam_Ankyrin_rpt,pfam_SOCS_C,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_SOCS_C,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SOCS_C,prints_Ankyrin_rpt	p.G402	ENST00000420175.2	37	c.1206	CCDS47750.2	7																																																																																			ASB10	-	superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom		0.697	ASB10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ASB10	HGNC	protein_coding	OTTHUMT00000347096.3	G	NM_080871		150878059	-1	no_errors	ENST00000422024	ensembl	human	known	70_37	silent	SNP	0.011	A
ASIC3	9311	genome.wustl.edu	37	7	150749539	150749539	+	Missense_Mutation	SNP	C	C	T			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr7:150749539C>T	ENST00000349064.5	+	10	1693	c.1495C>T	c.(1495-1497)Ccc>Tcc	p.P499S	ASIC3_ENST00000297512.8_Missense_Mutation_p.P499S|ASIC3_ENST00000357922.4_Intron	NM_004769.3|NM_020321.3	NP_004760.1|NP_064717.1	Q9UHC3	ASIC3_HUMAN	acid-sensing (proton-gated) ion channel 3	499					cation transmembrane transport (GO:0098655)|detection of chemical stimulus involved in sensory perception of pain (GO:0050968)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|detection of temperature stimulus involved in sensory perception of pain (GO:0050965)|ion transmembrane transport (GO:0034220)|response to acid chemical (GO:0001101)|response to acidic pH (GO:0010447)|response to heat (GO:0009408)|sensory perception (GO:0007600)|sensory perception of sour taste (GO:0050915)|signal transduction (GO:0007165)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cation channel activity (GO:0005261)|enterobactin transporter activity (GO:0042931)|ligand-gated sodium channel activity (GO:0015280)|sodium channel activity (GO:0005272)										AACCCAAGTTCCCCACCTCAG	0.632																																																	0													100.0	85.0	90.0					7																	150749539		2203	4300	6503	SO:0001583	missense	9311			AB010575	CCDS5914.1, CCDS5915.1, CCDS5916.1	7q35	2012-02-23	2012-02-22	2012-02-22	ENSG00000213199	ENSG00000213199		"""Ion channels / Acid-sensing (proton-gated) ion channels"""	101	protein-coding gene	gene with protein product	"""testis sodium channel 1"""	611741	"""amiloride-sensitive cation channel 3, testis"", ""amiloride-sensitive cation channel 3"""	ACCN3		9571199, 9744806	Standard	NM_004769		Approved	TNaC1, DRASIC	uc003wio.3	Q9UHC3	OTTHUMG00000158685	ENST00000349064.5:c.1495C>T	7.37:g.150749539C>T	ENSP00000344838:p.Pro499Ser	Somatic		WXS	Illumina HiSeq	Phase_IV	B2R9V0|O60263|O75906|Q59FN9|Q9UER8|Q9UHC4	Missense_Mutation	SNP	pfam_Na+channel_ASC,prints_Na+channel_ASC,tigrfam_EnaC	p.P499S	ENST00000349064.5	37	c.1495	CCDS5916.1	7	.	.	.	.	.	.	.	.	.	.	C	9.118	1.008268	0.19199	.	.	ENSG00000213199	ENST00000349064;ENST00000297512;ENST00000490540	T;T;T	0.68025	-0.09;-0.3;-0.21	4.67	0.701	0.18104	.	.	.	.	.	T	0.43188	0.1236	N	0.16567	0.415	0.19945	N	0.999943	B;B	0.17667	0.023;0.011	B;B	0.15870	0.011;0.014	T	0.20605	-1.0270	9	0.20519	T	0.43	-11.4423	4.4981	0.11851	0.0:0.5715:0.1704:0.2581	.	499;499	Q9UHC3-3;Q9UHC3	.;ACCN3_HUMAN	S	499;499;130	ENSP00000344838:P499S;ENSP00000297512:P499S;ENSP00000418361:P130S	ENSP00000297512:P499S	P	+	1	0	ACCN3	150380472	0.001000	0.12720	0.077000	0.20336	0.978000	0.69477	-0.326000	0.07965	-0.048000	0.13401	0.462000	0.41574	CCC	ASIC3	-	NULL		0.632	ASIC3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	ASIC3	HGNC	protein_coding	OTTHUMT00000351725.1	C	NM_004769		150749539	+1	no_errors	ENST00000297512	ensembl	human	known	70_37	missense	SNP	0.155	T
ASB10	136371	genome.wustl.edu	37	7	150883515	150883515	+	Missense_Mutation	SNP	C	C	T			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr7:150883515C>T	ENST00000420175.2	-	2	572	c.548G>A	c.(547-549)cGc>cAc	p.R183H	ASB10_ENST00000434669.1_Missense_Mutation_p.R228H|ASB10_ENST00000377867.3_Missense_Mutation_p.R168H|ASB10_ENST00000275838.1_Missense_Mutation_p.R183H|ASB10_ENST00000422024.1_Missense_Mutation_p.R228H			Q8WXI3	ASB10_HUMAN	ankyrin repeat and SOCS box containing 10	183			R -> C (in GLC1F; uncertain pathological significance). {ECO:0000269|PubMed:22156576}.		intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|endometrium(2)|lung(7)|skin(2)	12			OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		ATGCAGGGGGCGTTTCCCATC	0.642																																																	0													16.0	16.0	16.0					7																	150883515		2198	4288	6486	SO:0001583	missense	136371			AK055536	CCDS5921.2, CCDS47749.1, CCDS47750.1, CCDS47749.2, CCDS47750.2	7q35	2014-02-04	2011-01-25		ENSG00000146926	ENSG00000146926		"""Ankyrin repeat domain containing"""	17185	protein-coding gene	gene with protein product		615054	"""ankyrin repeat and SOCS box-containing 10"", ""glaucoma 1, open angle, F (adult-onset)"""	GLC1F		22156576	Standard	NM_080871		Approved		uc003wjm.1	Q8WXI3	OTTHUMG00000157013	ENST00000420175.2:c.548G>A	7.37:g.150883515C>T	ENSP00000391137:p.Arg183His	Somatic		WXS	Illumina HiSeq	Phase_IV	A0AVH0|Q6ZUL6	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_SOCS_C,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_SOCS_C,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SOCS_C,prints_Ankyrin_rpt	p.R228H	ENST00000420175.2	37	c.683	CCDS47750.2	7	.	.	.	.	.	.	.	.	.	.	C	11.50	1.657227	0.29425	.	.	ENSG00000146926	ENST00000275838;ENST00000377867;ENST00000422024;ENST00000434669;ENST00000420175	T;T;T;T;T	0.64438	-0.1;-0.1;-0.1;-0.1;-0.1	4.96	1.91	0.25777	Ankyrin repeat-containing domain (4);	0.342530	0.29987	N	0.010689	T	0.39462	0.1079	N	0.16266	0.395	0.24795	N	0.992736	B;B;B	0.12013	0.003;0.005;0.001	B;B;B	0.12156	0.006;0.007;0.005	T	0.28332	-1.0047	10	0.66056	D	0.02	-6.1227	3.8834	0.09088	0.1391:0.5858:0.1243:0.1509	.	168;183;228	Q8WXI3-3;Q8WXI3;D5MNW9	.;ASB10_HUMAN;.	H	183;168;228;228;183	ENSP00000275838:R183H;ENSP00000367098:R168H;ENSP00000401369:R228H;ENSP00000398247:R228H;ENSP00000391137:R183H	ENSP00000275838:R183H	R	-	2	0	ASB10	150514448	0.012000	0.17670	0.876000	0.34364	0.916000	0.54674	0.292000	0.19011	0.585000	0.29608	-0.216000	0.12614	CGC	ASB10	-	superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom		0.642	ASB10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ASB10	HGNC	protein_coding	OTTHUMT00000347096.3	C	NM_080871		150883515	-1	no_errors	ENST00000422024	ensembl	human	known	70_37	missense	SNP	0.633	T
ASPM	259266	genome.wustl.edu	37	1	197091175	197091176	+	Splice_Site	INS	-	-	A	rs587783236		TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr1:197091175_197091176insA	ENST00000367409.4	-	16	3998		c.e16-2		ASPM_ENST00000367408.1_Splice_Site|ASPM_ENST00000294732.7_Splice_Site	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)						developmental growth (GO:0048589)|forebrain neuroblast division (GO:0021873)|maintenance of centrosome location (GO:0051661)|mitotic nuclear division (GO:0007067)|negative regulation of asymmetric cell division (GO:0045769)|negative regulation of neuron differentiation (GO:0045665)|neuron migration (GO:0001764)|oogenesis (GO:0048477)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of neuroblast proliferation (GO:0002052)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|midbody (GO:0030496)|nucleus (GO:0005634)|spindle pole (GO:0000922)				breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						AATAACCACCTAAAAAAAACCC	0.302																																																	0									,	6,4244		1,4,2120					,	5.7	1.0			41	14,8222		0,14,4104	no	splice-3,splice-3	ASPM	NM_018136.4,NM_001206846.1	,	1,18,6224	A1A1,A1R,RR		0.17,0.1412,0.1602	,	,		20,12466				SO:0001630	splice_region_variant	259266			AY367065	CCDS1389.1, CCDS55672.1	1q31	2008-02-05	2006-09-12		ENSG00000066279	ENSG00000066279			19048	protein-coding gene	gene with protein product		605481	"""microcephaly, primary autosomal recessive 5"", ""asp (abnormal spindle)-like, microcephaly associated (Drosophila)"""	MCPH5		11078481	Standard	NM_018136		Approved	Calmbp1, ASP, FLJ10517, FLJ10549	uc001gtu.3	Q8IZT6	OTTHUMG00000036277	ENST00000367409.4:c.3742-2->T	1.37:g.197091183_197091183dupA		Somatic		WXS	Illumina HiSeq	Phase_IV	Q4G1H1|Q5VYL3|Q86UX4|Q8IUL2|Q8IZJ7|Q8IZJ8|Q8IZJ9|Q8N4D1|Q9NVS1|Q9NVT6	Splice_Site	INS	-	e16-2	ENST00000367409.4	37	c.3742-3_3742-2	CCDS1389.1	1																																																																																			ASPM	-	-		0.302	ASPM-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ASPM	HGNC	protein_coding	OTTHUMT00000088256.1	-	NM_018136	Intron	197091176	-1	no_errors	ENST00000367409	ensembl	human	known	70_37	splice_site_ins	INS	1.000:0.990	A
ASPM	259266	genome.wustl.edu	37	1	197112773	197112773	+	Silent	SNP	G	G	A	rs587783255		TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr1:197112773G>A	ENST00000367409.4	-	3	865	c.609C>T	c.(607-609)ggC>ggT	p.G203G	ASPM_ENST00000294732.7_Silent_p.G203G	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	203					developmental growth (GO:0048589)|forebrain neuroblast division (GO:0021873)|maintenance of centrosome location (GO:0051661)|mitotic nuclear division (GO:0007067)|negative regulation of asymmetric cell division (GO:0045769)|negative regulation of neuron differentiation (GO:0045665)|neuron migration (GO:0001764)|oogenesis (GO:0048477)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of neuroblast proliferation (GO:0002052)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|midbody (GO:0030496)|nucleus (GO:0005634)|spindle pole (GO:0000922)				breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						TTGGGGGACCGCCTTCATTCA	0.368																																																	0													65.0	68.0	67.0					1																	197112773		2203	4300	6503	SO:0001819	synonymous_variant	259266			AY367065	CCDS1389.1, CCDS55672.1	1q31	2008-02-05	2006-09-12		ENSG00000066279	ENSG00000066279			19048	protein-coding gene	gene with protein product		605481	"""microcephaly, primary autosomal recessive 5"", ""asp (abnormal spindle)-like, microcephaly associated (Drosophila)"""	MCPH5		11078481	Standard	NM_018136		Approved	Calmbp1, ASP, FLJ10517, FLJ10549	uc001gtu.3	Q8IZT6	OTTHUMG00000036277	ENST00000367409.4:c.609C>T	1.37:g.197112773G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q4G1H1|Q5VYL3|Q86UX4|Q8IUL2|Q8IZJ7|Q8IZJ8|Q8IZJ9|Q8N4D1|Q9NVS1|Q9NVT6	Silent	SNP	pfam_IQ_motif_EF-hand-BS,pfam_CAMSAP_CH,pfam_CH-domain,superfamily_CH-domain,superfamily_ARM-type_fold,smart_CH-domain,smart_IQ_motif_EF-hand-BS,pfscan_CH-domain,pfscan_IQ_motif_EF-hand-BS	p.G203	ENST00000367409.4	37	c.609	CCDS1389.1	1																																																																																			ASPM	-	NULL		0.368	ASPM-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ASPM	HGNC	protein_coding	OTTHUMT00000088256.1	G	NM_018136		197112773	-1	no_errors	ENST00000367409	ensembl	human	known	70_37	silent	SNP	0.000	A
ASS1	445	genome.wustl.edu	37	9	133352327	133352327	+	Missense_Mutation	SNP	C	C	G			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr9:133352327C>G	ENST00000372394.1	+	10	1148	c.667C>G	c.(667-669)Ctc>Gtc	p.L223V	ASS1_ENST00000372393.3_Missense_Mutation_p.L223V|ASS1_ENST00000493984.2_3'UTR|ASS1_ENST00000352480.5_Missense_Mutation_p.L223V			P00966	ASSY_HUMAN	argininosuccinate synthase 1	223					acute-phase response (GO:0006953)|aging (GO:0007568)|arginine biosynthetic process (GO:0006526)|argininosuccinate metabolic process (GO:0000053)|aspartate metabolic process (GO:0006531)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to amine stimulus (GO:0071418)|cellular response to amino acid stimulus (GO:0071230)|cellular response to ammonium ion (GO:0071242)|cellular response to cAMP (GO:0071320)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to glucagon stimulus (GO:0071377)|cellular response to interferon-gamma (GO:0071346)|cellular response to laminar fluid shear stress (GO:0071499)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to oleic acid (GO:0071400)|cellular response to tumor necrosis factor (GO:0071356)|citrulline metabolic process (GO:0000052)|diaphragm development (GO:0060539)|kidney development (GO:0001822)|liver development (GO:0001889)|midgut development (GO:0007494)|negative regulation of leukocyte cell-cell adhesion (GO:1903038)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to growth hormone (GO:0060416)|response to mycotoxin (GO:0010046)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|small molecule metabolic process (GO:0044281)|urea cycle (GO:0000050)	cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|mitochondrial outer membrane (GO:0005741)|nucleus (GO:0005634)|perikaryon (GO:0043204)	amino acid binding (GO:0016597)|argininosuccinate synthase activity (GO:0004055)|ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|toxic substance binding (GO:0015643)			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	17				OV - Ovarian serous cystadenocarcinoma(145;0.000514)	Adenosine triphosphate(DB00171)|L-Arginine(DB00125)|L-Aspartic Acid(DB00128)|L-Citrulline(DB00155)	CCCTGACATTCTCGAGATCGA	0.562																																																	0													101.0	106.0	104.0					9																	133352327		2203	4300	6503	SO:0001583	missense	445			X01630	CCDS6933.1	9q34.1	2012-10-02	2010-04-20	2006-08-24	ENSG00000130707	ENSG00000130707	6.3.4.5		758	protein-coding gene	gene with protein product		603470	"""argininosuccinate synthetase"""	ASS		3513483, 852520	Standard	NM_054012		Approved	CTLN1	uc004bzm.3	P00966	OTTHUMG00000020806	ENST00000372394.1:c.667C>G	9.37:g.133352327C>G	ENSP00000361471:p.Leu223Val	Somatic		WXS	Illumina HiSeq	Phase_IV	Q6LDL2|Q86UZ0|Q96GT4	Missense_Mutation	SNP	pfam_Arginosuc_synth,pfam_QueC,tigrfam_Arginosuc_synth	p.L223V	ENST00000372394.1	37	c.667	CCDS6933.1	9	.	.	.	.	.	.	.	.	.	.	C	11.62	1.694010	0.30052	.	.	ENSG00000130707	ENST00000334909;ENST00000352480;ENST00000372394;ENST00000372393	D;D;D	0.98135	-4.74;-4.74;-4.74	5.95	3.79	0.43588	Argininosuccinate synthetase, catalytic/multimerisation domain body (1);	0.000000	0.64402	U	0.000013	D	0.92286	0.7553	N	0.13140	0.3	0.58432	D	0.999996	B;B;B;B;B	0.28636	0.033;0.218;0.218;0.019;0.019	B;B;B;B;B	0.32022	0.029;0.139;0.139;0.019;0.019	D	0.88722	0.3230	10	0.07482	T	0.82	.	10.5186	0.44905	0.0:0.7852:0.0:0.2148	.	223;106;106;223;223	A8KAP9;B4E395;E9PDT0;Q5T6L4;P00966	.;.;.;.;ASSY_HUMAN	V	223	ENSP00000253004:L223V;ENSP00000361471:L223V;ENSP00000361469:L223V	ENSP00000361470:L223V	L	+	1	0	ASS1	132342148	1.000000	0.71417	0.927000	0.36925	0.685000	0.39939	3.097000	0.50251	1.521000	0.48983	0.563000	0.77884	CTC	ASS1	-	pfam_Arginosuc_synth,tigrfam_Arginosuc_synth		0.562	ASS1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ASS1	HGNC	protein_coding	OTTHUMT00000054652.1	C	NM_000050		133352327	+1	no_errors	ENST00000334909	ensembl	human	known	70_37	missense	SNP	0.970	G
ASS1	445	genome.wustl.edu	37	9	133352341	133352341	+	Silent	SNP	C	C	T			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr9:133352341C>T	ENST00000372394.1	+	10	1162	c.681C>T	c.(679-681)ttC>ttT	p.F227F	ASS1_ENST00000372393.3_Silent_p.F227F|ASS1_ENST00000493984.2_3'UTR|ASS1_ENST00000352480.5_Silent_p.F227F			P00966	ASSY_HUMAN	argininosuccinate synthase 1	227					acute-phase response (GO:0006953)|aging (GO:0007568)|arginine biosynthetic process (GO:0006526)|argininosuccinate metabolic process (GO:0000053)|aspartate metabolic process (GO:0006531)|cellular nitrogen compound metabolic process (GO:0034641)|cellular response to amine stimulus (GO:0071418)|cellular response to amino acid stimulus (GO:0071230)|cellular response to ammonium ion (GO:0071242)|cellular response to cAMP (GO:0071320)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to glucagon stimulus (GO:0071377)|cellular response to interferon-gamma (GO:0071346)|cellular response to laminar fluid shear stress (GO:0071499)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to oleic acid (GO:0071400)|cellular response to tumor necrosis factor (GO:0071356)|citrulline metabolic process (GO:0000052)|diaphragm development (GO:0060539)|kidney development (GO:0001822)|liver development (GO:0001889)|midgut development (GO:0007494)|negative regulation of leukocyte cell-cell adhesion (GO:1903038)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to growth hormone (GO:0060416)|response to mycotoxin (GO:0010046)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|small molecule metabolic process (GO:0044281)|urea cycle (GO:0000050)	cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|mitochondrial outer membrane (GO:0005741)|nucleus (GO:0005634)|perikaryon (GO:0043204)	amino acid binding (GO:0016597)|argininosuccinate synthase activity (GO:0004055)|ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|toxic substance binding (GO:0015643)			breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	17				OV - Ovarian serous cystadenocarcinoma(145;0.000514)	Adenosine triphosphate(DB00171)|L-Arginine(DB00125)|L-Aspartic Acid(DB00128)|L-Citrulline(DB00155)	AGATCGAGTTCAAAAAAGGTA	0.557																																																	0													82.0	84.0	83.0					9																	133352341		2203	4300	6503	SO:0001819	synonymous_variant	445			X01630	CCDS6933.1	9q34.1	2012-10-02	2010-04-20	2006-08-24	ENSG00000130707	ENSG00000130707	6.3.4.5		758	protein-coding gene	gene with protein product		603470	"""argininosuccinate synthetase"""	ASS		3513483, 852520	Standard	NM_054012		Approved	CTLN1	uc004bzm.3	P00966	OTTHUMG00000020806	ENST00000372394.1:c.681C>T	9.37:g.133352341C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q6LDL2|Q86UZ0|Q96GT4	Silent	SNP	pfam_Arginosuc_synth,pfam_QueC,tigrfam_Arginosuc_synth	p.F227	ENST00000372394.1	37	c.681	CCDS6933.1	9																																																																																			ASS1	-	pfam_Arginosuc_synth,tigrfam_Arginosuc_synth		0.557	ASS1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ASS1	HGNC	protein_coding	OTTHUMT00000054652.1	C	NM_000050		133352341	+1	no_errors	ENST00000334909	ensembl	human	known	70_37	silent	SNP	1.000	T
C6orf136	221545	genome.wustl.edu	37	6	30613720	30613721	+	5'Flank	INS	-	-	G	rs200190404	byFrequency	TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr6:30613720_30613721insG	ENST00000376473.5	+	0	0				C6orf136_ENST00000293604.6_5'Flank|C6orf136_ENST00000376471.4_5'Flank|ATAT1_ENST00000376485.4_Frame_Shift_Ins_p.G340fs|ATAT1_ENST00000376478.2_Frame_Shift_Ins_p.G317fs|ATAT1_ENST00000468713.1_3'UTR|ATAT1_ENST00000330083.5_Frame_Shift_Ins_p.G328fs|AL662800.2_ENST00000583820.1_RNA	NM_001109938.2	NP_001103408.1	Q5SQH8	CF136_HUMAN	chromosome 6 open reading frame 136							mitochondrion (GO:0005739)				endometrium(1)|large_intestine(2)|lung(6)|ovary(1)	10						ACAGCCGCCATGGGGGGGTGAA	0.54													GGGGGGG|GGGGGGG|GGGGGGGG|insertion	11	0.00219649	0.0	0.0014	5008	,	,		17829	0.0099		0.0	False		,,,				2504	0.0																0										16,3594		0,16,1789						-1.7	1.0			18	16,7846		0,16,3915	no	frameshift	ATAT1	NM_001031722.2		0,32,5704	A1A1,A1R,RR		0.2035,0.4432,0.2789				32,11440				SO:0001631	upstream_gene_variant	79969			BC016167	CCDS4684.1, CCDS43443.1, CCDS4684.2, CCDS54979.1	6p21.32	2012-02-06			ENSG00000204564	ENSG00000204564			21301	protein-coding gene	gene with protein product							Standard	NM_001109938		Approved	Em:AB023049.8	uc003nqx.4	Q5SQH8	OTTHUMG00000031221		6.37:g.30613727_30613727dupG	Exception_encountered	Somatic		WXS	Illumina HiSeq	Phase_IV	A9R9P9|F8VX15|Q5SU01|Q6ZSB7|Q8TB84	Frame_Shift_Ins	INS	pfam_Touch_recpt_neuron_Mec-17,superfamily_Acyl_CoA_acyltransferase	p.V341fs	ENST00000376473.5	37	c.1017_1018	CCDS43443.1	6																																																																																			ATAT1	-	NULL		0.540	C6orf136-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATAT1	HGNC	protein_coding	OTTHUMT00000076457.4	-	NM_145029		30613721	+1	no_errors	ENST00000376485	ensembl	human	known	70_37	frame_shift_ins	INS	0.985:0.997	G
ATCAY	85300	genome.wustl.edu	37	19	3909586	3909586	+	Silent	SNP	G	G	A			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr19:3909586G>A	ENST00000450849.2	+	7	1217	c.750G>A	c.(748-750)ctG>ctA	p.L250L	ATCAY_ENST00000600960.1_Silent_p.L250L|ATCAY_ENST00000398448.3_Silent_p.L256L|ATCAY_ENST00000301260.6_Silent_p.L250L	NM_033064.4	NP_149053.1	Q86WG3	ATCAY_HUMAN	ataxia, cerebellar, Cayman type	250	CRAL-TRIO. {ECO:0000255|PROSITE- ProRule:PRU00056}.|Mediates interaction with GLS.				apoptotic process (GO:0006915)|mitochondrion distribution (GO:0048311)|negative regulation of glutamate metabolic process (GO:2000212)|neuron projection development (GO:0031175)|regulation of protein localization (GO:0032880)|transport (GO:0006810)	axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|mitochondrial membrane (GO:0031966)|neuron projection (GO:0043005)|synapse (GO:0045202)	kinesin binding (GO:0019894)			breast(1)|endometrium(2)|kidney(2)|lung(2)	7		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00485)|STAD - Stomach adenocarcinoma(1328;0.183)		TCGGCTGGCTGAAGAAGTGCT	0.597																																																	0													37.0	41.0	40.0					19																	3909586		2115	4232	6347	SO:0001819	synonymous_variant	85300				CCDS45923.1	19p13.3	2014-06-24	2008-07-18		ENSG00000167654	ENSG00000167654			779	protein-coding gene	gene with protein product	"""Cayman ataxia"", ""caytaxin"""	608179				8845847, 14556008	Standard	NM_033064		Approved		uc002lyy.4	Q86WG3	OTTHUMG00000181836	ENST00000450849.2:c.750G>A	19.37:g.3909586G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q8NAQ2|Q8TAQ3|Q96HC6|Q96JF5	Silent	SNP	pfam_Bcl2-/adenovirus-E1B,pfam_CRAL-TRIO_dom,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom	p.L250	ENST00000450849.2	37	c.750	CCDS45923.1	19																																																																																			ATCAY	-	pfam_CRAL-TRIO_dom,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom		0.597	ATCAY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATCAY	HGNC	protein_coding	OTTHUMT00000457872.2	G			3909586	+1	no_errors	ENST00000301260	ensembl	human	known	70_37	silent	SNP	1.000	A
ATF3	467	genome.wustl.edu	37	1	212793751	212793751	+	3'UTR	SNP	T	T	G			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr1:212793751T>G	ENST00000341491.4	+	0	1665				ATF3_ENST00000492118.1_3'UTR|ATF3_ENST00000366987.2_3'UTR	NM_001040619.2|NM_001206488.2|NM_001674.3	NP_001035709.1|NP_001193417.2|NP_001665.1	P18847	ATF3_HUMAN	activating transcription factor 3						activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|gluconeogenesis (GO:0006094)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|skeletal muscle cell differentiation (GO:0035914)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	identical protein binding (GO:0042802)|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)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(2)	6				OV - Ovarian serous cystadenocarcinoma(81;0.00628)|all cancers(67;0.0097)|GBM - Glioblastoma multiforme(131;0.0388)|Epithelial(68;0.0933)	Pseudoephedrine(DB00852)	AGCCAAAGAATATTCCATTTT	0.463																																																	0																																										SO:0001624	3_prime_UTR_variant	467			L19871	CCDS1506.1, CCDS41464.1, CCDS55688.1, CCDS58059.1	1q32.3	2013-01-10			ENSG00000162772	ENSG00000162772		"""basic leucine zipper proteins"""	785	protein-coding gene	gene with protein product		603148				7515060	Standard	NM_001674		Approved		uc021pit.1	P18847	OTTHUMG00000036747	ENST00000341491.4:c.*854T>G	1.37:g.212793751T>G		Somatic		WXS	Illumina HiSeq	Phase_IV	Q5VTZ2|Q6ICQ9|Q7Z566|Q8WYM6	RNA	SNP	-	NULL	ENST00000341491.4	37	NULL	CCDS1506.1	1																																																																																			ATF3	-	-		0.463	ATF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATF3	HGNC	protein_coding	OTTHUMT00000089296.1	T	NM_001674		212793751	+1	no_errors	ENST00000492118	ensembl	human	known	70_37	rna	SNP	0.996	G
ATHL1	80162	genome.wustl.edu	37	11	290594	290594	+	Missense_Mutation	SNP	G	G	A			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr11:290594G>A	ENST00000409548.2	+	3	579	c.464G>A	c.(463-465)gGa>gAa	p.G155E	RP11-326C3.2_ENST00000533924.1_RNA|ATHL1_ENST00000409479.1_Missense_Mutation_p.G155E|RP11-326C3.2_ENST00000525217.1_RNA|RP11-326C3.2_ENST00000534742.1_RNA|ATHL1_ENST00000409655.1_5'UTR	NM_025092.4	NP_079368.3	Q32M88	ATHL1_HUMAN	ATH1, acid trehalase-like 1 (yeast)	155					carbohydrate metabolic process (GO:0005975)		hydrolase activity, acting on glycosyl bonds (GO:0016798)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|liver(1)|lung(7)|prostate(1)|skin(3)	17		all_cancers(49;1.12e-06)|all_epithelial(84;0.000375)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;5.38e-28)|Epithelial(43;3.25e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.11e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0327)|LUSC - Lung squamous cell carcinoma(625;0.122)		GACTTCCAGGGAGCCCGGTAA	0.662																																																	0													16.0	22.0	20.0					11																	290594		692	1591	2283	SO:0001583	missense	80162			AK090428	CCDS31322.2	11p15.5	2005-10-27			ENSG00000142102	ENSG00000142102			26210	protein-coding gene	gene with protein product							Standard	NM_025092		Approved	FLJ22635	uc010qvu.2	Q32M88	OTTHUMG00000153218	ENST00000409548.2:c.464G>A	11.37:g.290594G>A	ENSP00000387185:p.Gly155Glu	Somatic		WXS	Illumina HiSeq	Phase_IV	Q658X8|Q8TEG9|Q9H635	Missense_Mutation	SNP	pfam_Glyco_hydro_65_M,superfamily_6-hairpin_glycosidase-like	p.G155E	ENST00000409548.2	37	c.464	CCDS31322.2	11	.	.	.	.	.	.	.	.	.	.	G	23.2	4.383214	0.82792	.	.	ENSG00000142102	ENST00000409548;ENST00000409479	.	.	.	3.97	3.97	0.46021	.	.	.	.	.	T	0.65780	0.2724	M	0.68952	2.095	0.58432	D	0.999992	D;P	0.62365	0.991;0.656	P;P	0.57152	0.814;0.459	T	0.63323	-0.6663	8	0.17832	T	0.49	.	13.5877	0.61942	0.0:0.0:1.0:0.0	.	155;155	Q32M88;E7EMA9	ATHL1_HUMAN;.	E	155	.	ENSP00000387099:G155E	G	+	2	0	ATHL1	280594	1.000000	0.71417	0.999000	0.59377	0.870000	0.49936	4.622000	0.61240	1.918000	0.55548	0.549000	0.68633	GGA	ATHL1	-	NULL		0.662	ATHL1-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	ATHL1	HGNC	protein_coding	OTTHUMT00000330164.3	G	NM_025092		290594	+1	no_errors	ENST00000409548	ensembl	human	known	70_37	missense	SNP	1.000	A
ATF4P4	100127952	genome.wustl.edu	37	11	113660803	113660803	+	RNA	SNP	C	C	T			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr11:113660803C>T	ENST00000393544.2	+	0	851									activating transcription factor 4 pseudogene 4																		TCCGCACGTGCGCGCCTTCTC	0.577																																																	0																																												100127952					11q23.2	2011-09-02	2010-12-16	2010-12-16	ENSG00000256167	ENSG00000256167			787	pseudogene	pseudogene			"""activating transcription factor 4B"""	ATF4B		10610718	Standard	NG_021835		Approved				OTTHUMG00000168194		11.37:g.113660803C>T		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000393544.2	37	NULL		11																																																																																			ATF4P4	-	-		0.577	ATF4P4-002	KNOWN	basic	processed_transcript	ATF4P4	HGNC	pseudogene	OTTHUMT00000398707.1	C	NG_021835		113660803	+1	no_errors	ENST00000393544	ensembl	human	known	70_37	rna	SNP	0.608	T
ATL1	51062	genome.wustl.edu	37	14	51026870	51026870	+	5'UTR	SNP	G	G	C			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr14:51026870G>C	ENST00000358385.6	+	0	128				ATL1_ENST00000441560.2_5'UTR|ATL1_ENST00000357032.3_5'UTR|ATL1_ENST00000354525.4_5'UTR|ATL1_ENST00000556478.2_3'UTR	NM_015915.4	NP_056999.2	Q8WXF7	ATLA1_HUMAN	atlastin GTPase 1						axonogenesis (GO:0007409)|cell death (GO:0008219)|endoplasmic reticulum organization (GO:0007029)|GTP catabolic process (GO:0006184)|protein homooligomerization (GO:0051260)	cell projection (GO:0042995)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|Golgi cis cisterna (GO:0000137)|integral component of membrane (GO:0016021)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)			central_nervous_system(1)|cervix(2)|large_intestine(4)|liver(1)|lung(6)|ovary(1)|skin(3)	18						CTCAGAGTCTGAGCGAACTGC	0.647																																																	0																																										SO:0001623	5_prime_UTR_variant	51062			AF131801	CCDS9700.1, CCDS32077.1	14q21.3	2014-09-17	2008-09-17	2008-09-17	ENSG00000198513	ENSG00000198513			11231	protein-coding gene	gene with protein product	"""atlastin"""	606439	"""spastic paraplegia 3A (autosomal dominant)"""	SPG3, SPG3A		8252041, 7825576	Standard	NM_015915		Approved	FSP1, AD-FSP	uc001wyd.4	Q8WXF7	OTTHUMG00000140297	ENST00000358385.6:c.-114G>C	14.37:g.51026870G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	A6NND5|A8K2C0|G5E9T1|O95890|Q69YH7|Q96FK0	RNA	SNP	-	NULL	ENST00000358385.6	37	NULL	CCDS9700.1	14																																																																																			ATL1	-	-		0.647	ATL1-001	KNOWN	basic|CCDS	protein_coding	ATL1	HGNC	protein_coding	OTTHUMT00000276884.2	G			51026870	+1	no_errors	ENST00000556478	ensembl	human	known	70_37	rna	SNP	0.185	C
ATM	472	genome.wustl.edu	37	11	108150308	108150308	+	Missense_Mutation	SNP	G	G	C			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr11:108150308G>C	ENST00000452508.2	+	24	3564	c.3375G>C	c.(3373-3375)ttG>ttC	p.L1125F	ATM_ENST00000278616.4_Missense_Mutation_p.L1125F			Q13315	ATM_HUMAN	ATM serine/threonine kinase	1125					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|DNA damage induced protein phosphorylation (GO:0006975)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|heart development (GO:0007507)|histone mRNA catabolic process (GO:0071044)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|lipoprotein catabolic process (GO:0042159)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of B cell proliferation (GO:0030889)|neuron apoptotic process (GO:0051402)|oocyte development (GO:0048599)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|positive regulation of neuron apoptotic process (GO:0043525)|pre-B cell allelic exclusion (GO:0002331)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reciprocal meiotic recombination (GO:0007131)|replicative senescence (GO:0090399)|response to hypoxia (GO:0001666)|response to ionizing radiation (GO:0010212)|signal transduction (GO:0007165)|signal transduction involved in mitotic G2 DNA damage checkpoint (GO:0072434)|somitogenesis (GO:0001756)|telomere maintenance (GO:0000723)	cytoplasmic vesicle (GO:0031410)|nucleoplasm (GO:0005654)|spindle (GO:0005819)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|histone serine kinase activity (GO:0035174)|protein complex binding (GO:0032403)|protein dimerization activity (GO:0046983)|protein N-terminus binding (GO:0047485)|protein serine/threonine kinase activity (GO:0004674)			NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)	Caffeine(DB00201)	ATGCATACTTGAAAGCTCAGG	0.358			"""D, Mis, N, F, S"""		T-PLL	"""leukemia, lymphoma, medulloblastoma, glioma"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)																													yes	Rec	yes	Ataxia-telangiectasia	11	11q22.3	472	ataxia telangiectasia mutated		"""L, O"""	0													97.0	93.0	94.0					11																	108150308		2201	4298	6499	SO:0001583	missense	472	Familial Cancer Database	AT, Louis-Bar syndrome	AB209133	CCDS31669.1	11q22-q23	2014-09-17	2014-06-17		ENSG00000149311	ENSG00000149311			795	protein-coding gene	gene with protein product	"""TEL1, telomere maintenance 1, homolog (S. cerevisiae)"""	607585	"""ataxia telangiectasia mutated (includes complementation groups A, C and D)"", ""ataxia telangiectasia mutated"""	ATA, ATDC, ATC, ATD			Standard	XM_005271561		Approved	TEL1, TELO1	uc001pkb.1	Q13315	OTTHUMG00000166480	ENST00000452508.2:c.3375G>C	11.37:g.108150308G>C	ENSP00000388058:p.Leu1125Phe	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RNX5|O15429|Q12758|Q16551|Q93007|Q9NP02|Q9UCX7	Missense_Mutation	SNP	pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,pfam_TAN,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom	p.L1125F	ENST00000452508.2	37	c.3375	CCDS31669.1	11	.	.	.	.	.	.	.	.	.	.	G	12.31	1.898358	0.33535	.	.	ENSG00000149311	ENST00000527805;ENST00000278616;ENST00000452508	T;T;T	0.72505	-0.66;-0.66;-0.66	5.73	1.7	0.24286	Armadillo-type fold (1);	0.534882	0.19443	N	0.114131	T	0.49762	0.1576	L	0.38175	1.15	0.24408	N	0.994679	B	0.12013	0.005	B	0.14023	0.01	T	0.23726	-1.0180	10	0.09843	T	0.71	.	2.5155	0.04667	0.2011:0.2359:0.4431:0.1198	.	1125	Q13315	ATM_HUMAN	F	1125	ENSP00000435747:L1125F;ENSP00000278616:L1125F;ENSP00000388058:L1125F	ENSP00000278616:L1125F	L	+	3	2	ATM	107655518	0.997000	0.39634	0.010000	0.14722	0.818000	0.46254	0.558000	0.23469	0.053000	0.16036	0.585000	0.79938	TTG	ATM	-	superfamily_ARM-type_fold		0.358	ATM-003	KNOWN	basic|appris_principal|CCDS	protein_coding	ATM	HGNC	protein_coding	OTTHUMT00000389938.1	G	NM_000051		108150308	+1	no_errors	ENST00000278616	ensembl	human	known	70_37	missense	SNP	0.889	C
ATP10D	57205	genome.wustl.edu	37	4	47589060	47589060	+	Missense_Mutation	SNP	A	A	T			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr4:47589060A>T	ENST00000273859.3	+	22	4047	c.3778A>T	c.(3778-3780)Att>Ttt	p.I1260F		NM_020453.3	NP_065186.3	Q9P241	AT10D_HUMAN	ATPase, class V, type 10D	1260					cation transport (GO:0006812)|ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(2)|endometrium(5)|kidney(5)|large_intestine(14)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	66						GCTGGTCATCATTGGTAGCAT	0.433																																																	0													250.0	211.0	224.0					4																	47589060		2203	4300	6503	SO:0001583	missense	57205			AB040920	CCDS3476.1	4p12	2010-04-20	2007-09-19		ENSG00000145246	ENSG00000145246		"""ATPases / P-type"""	13549	protein-coding gene	gene with protein product			"""ATPase, Class V, type 10D"""			12532265	Standard	NM_020453		Approved	ATPVD, KIAA1487	uc003gxk.1	Q9P241	OTTHUMG00000160784	ENST00000273859.3:c.3778A>T	4.37:g.47589060A>T	ENSP00000273859:p.Ile1260Phe	Somatic		WXS	Illumina HiSeq	Phase_IV	A2RRC8|D6REN2|Q8NC70|Q96SR3	Missense_Mutation	SNP	pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_Dehalogen-like_hydro,superfamily_HAD-like_dom,superfamily_ATPase_cation_domN,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_Plipid-transl,tigrfam_ATPase_P-typ_ion-transptr	p.I1260F	ENST00000273859.3	37	c.3778	CCDS3476.1	4	.	.	.	.	.	.	.	.	.	.	A	0.539	-0.854483	0.02630	.	.	ENSG00000145246	ENST00000273859	T	0.39997	1.05	5.11	-1.04	0.10068	.	2.054730	0.01603	N	0.022175	T	0.30448	0.0765	N	0.21194	0.64	0.09310	N	1	B	0.12013	0.005	B	0.09377	0.004	T	0.18935	-1.0321	10	0.16420	T	0.52	0.4515	11.1256	0.48317	0.5219:0.0:0.4781:0.0	.	1260	Q9P241	AT10D_HUMAN	F	1260	ENSP00000273859:I1260F	ENSP00000273859:I1260F	I	+	1	0	ATP10D	47283817	0.000000	0.05858	0.001000	0.08648	0.015000	0.08874	-2.121000	0.01322	-0.472000	0.06881	-0.242000	0.12053	ATT	ATP10D	-	tigrfam_ATPase_P-typ_Plipid-transl		0.433	ATP10D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP10D	HGNC	protein_coding	OTTHUMT00000216900.1	A	NM_020453		47589060	+1	no_errors	ENST00000273859	ensembl	human	known	70_37	missense	SNP	0.000	T
ATP6AP1	537	genome.wustl.edu	37	X	153662561	153662561	+	Missense_Mutation	SNP	G	G	A			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chrX:153662561G>A	ENST00000369762.2	+	7	753	c.692G>A	c.(691-693)cGt>cAt	p.R231H	ATP6AP1_ENST00000484908.1_3'UTR|GDI1_ENST00000447750.2_5'Flank	NM_001183.4	NP_001174.2	Q15904	VAS1_HUMAN	ATPase, H+ transporting, lysosomal accessory protein 1	231					ATP hydrolysis coupled proton transport (GO:0015991)|establishment of organelle localization (GO:0051656)|pH reduction (GO:0045851)|positive regulation of bone resorption (GO:0045780)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of exocytosis (GO:0045921)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of osteoclast development (GO:2001206)|proton transport (GO:0015992)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|proton-transporting two-sector ATPase complex (GO:0016469)|proton-transporting V-type ATPase, V1 domain (GO:0033180)|vacuole (GO:0005773)	ATP binding (GO:0005524)|proton-transporting ATP synthase activity, rotational mechanism (GO:0046933)|proton-transporting ATPase activity, rotational mechanism (GO:0046961)|Rab GTPase binding (GO:0017137)|transporter activity (GO:0005215)			breast(1)|endometrium(2)|large_intestine(2)|lung(4)|ovary(5)	14	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CAGGTGGCCCGTGATGTAGCC	0.572																																																	0													84.0	76.0	78.0					X																	153662561		2203	4300	6503	SO:0001583	missense	537			D16469	CCDS35451.1	Xq28	2010-03-10	2003-08-28	2003-08-29	ENSG00000071553	ENSG00000071553			868	protein-coding gene	gene with protein product		300197	"""ATPase, H+ transporting, lysosomal (vacuolar proton pump), subunit 1"""	ATP6S1, ATP6IP1		8733135, 8281148	Standard	NM_001183		Approved	ORF, XAP-3, VATPS1, 16A, Ac45, XAP3, CF2	uc004flf.1	Q15904	OTTHUMG00000033291	ENST00000369762.2:c.692G>A	X.37:g.153662561G>A	ENSP00000358777:p.Arg231His	Somatic		WXS	Illumina HiSeq	Phase_IV	A6ZKI4|Q8NBT4|Q9H0C7	Missense_Mutation	SNP	pfam_BIG/ATPase_V1_suS1	p.R231H	ENST00000369762.2	37	c.692	CCDS35451.1	X	.	.	.	.	.	.	.	.	.	.	G	16.68	3.189292	0.57909	.	.	ENSG00000071553	ENST00000369762;ENST00000422890;ENST00000449556;ENST00000445849	.	.	.	5.34	3.46	0.39613	.	0.374983	0.31358	N	0.007799	T	0.52517	0.1739	M	0.62723	1.935	0.21861	N	0.999508	D;D	0.89917	0.999;1.0	D;D	0.68943	0.93;0.961	T	0.42882	-0.9425	9	0.56958	D	0.05	-11.8612	3.6036	0.08034	0.0936:0.1645:0.5682:0.1737	.	191;231	B3KR70;Q15904	.;VAS1_HUMAN	H	231;161;229;55	.	ENSP00000358777:R231H	R	+	2	0	ATP6AP1	153315755	1.000000	0.71417	0.859000	0.33776	0.672000	0.39443	2.711000	0.47177	1.004000	0.39156	0.529000	0.55759	CGT	ATP6AP1	-	pfam_BIG/ATPase_V1_suS1		0.572	ATP6AP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP6AP1	HGNC	protein_coding	OTTHUMT00000081639.4	G	NM_001183		153662561	+1	no_errors	ENST00000369762	ensembl	human	known	70_37	missense	SNP	0.332	A
ATP8A2	51761	genome.wustl.edu	37	13	26343298	26343298	+	Silent	SNP	C	C	T			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr13:26343298C>T	ENST00000381655.2	+	26	2641	c.2499C>T	c.(2497-2499)caC>caT	p.H833H	ATP8A2_ENST00000491840.1_3'UTR|ATP8A2_ENST00000255283.8_Silent_p.H793H	NM_016529.4	NP_057613.4	Q9NTI2	AT8A2_HUMAN	ATPase, aminophospholipid transporter, class I, type 8A, member 2	793					aging (GO:0007568)|axonogenesis (GO:0007409)|detection of light stimulus involved in visual perception (GO:0050908)|eating behavior (GO:0042755)|inner ear morphogenesis (GO:0042472)|involuntary skeletal muscle contraction (GO:0003011)|negative regulation of cell proliferation (GO:0008285)|neurofilament cytoskeleton organization (GO:0060052)|neuromuscular process controlling posture (GO:0050884)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of neuron projection development (GO:0010976)|positive regulation of phospholipid translocation (GO:0061092)|response to auditory stimulus (GO:0010996)|retina layer formation (GO:0010842)|skin development (GO:0043588)	cell projection (GO:0042995)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)	p.H833H(1)		breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(17)|lung(31)|ovary(4)|skin(3)|stomach(1)|urinary_tract(1)	72		Breast(139;0.0201)|Lung SC(185;0.0225)		all cancers(112;0.043)|OV - Ovarian serous cystadenocarcinoma(117;0.0748)|Epithelial(112;0.079)		AGACAGCCCACGTGGGTGTGG	0.592																																																	1	Substitution - coding silent(1)	endometrium(1)											100.0	108.0	105.0					13																	26343298		2157	4248	6405	SO:0001819	synonymous_variant	51761			AL137256	CCDS41873.1	13q12	2010-04-20	2010-03-31		ENSG00000132932	ENSG00000132932	3.6.3.1	"""ATPases / P-type"""	13533	protein-coding gene	gene with protein product		605870	"""ATPase, aminophospholipid transporter-like, Class I, type 8A, member 2"", ""ATPase, aminophospholipid transporter-like, class I, type 8A, member 2"""			11015572, 19778899	Standard	NM_016529		Approved	ATPIB, ML-1	uc001uqk.3	Q9NTI2	OTTHUMG00000016611	ENST00000381655.2:c.2499C>T	13.37:g.26343298C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q9H527|Q9NPU6|Q9NTL2|Q9NYM3	Silent	SNP	pfam_ATPase_P-typ_ATPase-assoc-dom,superfamily_HAD-like_dom,superfamily_ATPase_cation_domN,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_Plipid-transl,tigrfam_ATPase_P-typ_ion-transptr	p.H833	ENST00000381655.2	37	c.2499	CCDS41873.1	13																																																																																			ATP8A2	-	superfamily_HAD-like_dom,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_Plipid-transl,tigrfam_ATPase_P-typ_ion-transptr		0.592	ATP8A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP8A2	HGNC	protein_coding	OTTHUMT00000044236.2	C	NM_016529		26343298	+1	no_errors	ENST00000381655	ensembl	human	known	70_37	silent	SNP	0.004	T
ATP8A2	51761	genome.wustl.edu	37	13	26501335	26501335	+	3'UTR	SNP	G	G	A			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr13:26501335G>A	ENST00000491840.1	+	0	2141				ATP8A2_ENST00000255283.8_Intron|ATP8A2_ENST00000381655.2_Intron			Q9NTI2	AT8A2_HUMAN	ATPase, aminophospholipid transporter, class I, type 8A, member 2						aging (GO:0007568)|axonogenesis (GO:0007409)|detection of light stimulus involved in visual perception (GO:0050908)|eating behavior (GO:0042755)|inner ear morphogenesis (GO:0042472)|involuntary skeletal muscle contraction (GO:0003011)|negative regulation of cell proliferation (GO:0008285)|neurofilament cytoskeleton organization (GO:0060052)|neuromuscular process controlling posture (GO:0050884)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of neuron projection development (GO:0010976)|positive regulation of phospholipid translocation (GO:0061092)|response to auditory stimulus (GO:0010996)|retina layer formation (GO:0010842)|skin development (GO:0043588)	cell projection (GO:0042995)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(17)|lung(31)|ovary(4)|skin(3)|stomach(1)|urinary_tract(1)	72		Breast(139;0.0201)|Lung SC(185;0.0225)		all cancers(112;0.043)|OV - Ovarian serous cystadenocarcinoma(117;0.0748)|Epithelial(112;0.079)		CCTGTGCCCCGGAGCCCCACT	0.522																																																	0																																										SO:0001624	3_prime_UTR_variant	51761			AL137256	CCDS41873.1	13q12	2010-04-20	2010-03-31		ENSG00000132932	ENSG00000132932	3.6.3.1	"""ATPases / P-type"""	13533	protein-coding gene	gene with protein product		605870	"""ATPase, aminophospholipid transporter-like, Class I, type 8A, member 2"", ""ATPase, aminophospholipid transporter-like, class I, type 8A, member 2"""			11015572, 19778899	Standard	NM_016529		Approved	ATPIB, ML-1	uc001uqk.3	Q9NTI2	OTTHUMG00000016611	ENST00000491840.1:c.*2138G>A	13.37:g.26501335G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q9H527|Q9NPU6|Q9NTL2|Q9NYM3	RNA	SNP	-	NULL	ENST00000491840.1	37	NULL		13																																																																																			ATP8A2	-	-		0.522	ATP8A2-006	KNOWN	basic	processed_transcript	ATP8A2	HGNC	protein_coding	OTTHUMT00000354574.1	G	NM_016529		26501335	+1	no_errors	ENST00000491840	ensembl	human	known	70_37	rna	SNP	0.000	A
ATP8B3	148229	genome.wustl.edu	37	19	1785261	1785261	+	Silent	SNP	G	G	A	rs372841402		TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr19:1785261G>A	ENST00000310127.6	-	27	3667	c.3429C>T	c.(3427-3429)tgC>tgT	p.C1143C	ATP8B3_ENST00000539485.1_Silent_p.C1153C|ATP8B3_ENST00000525591.1_Silent_p.C1106C	NM_138813.3	NP_620168.1	O60423	AT8B3_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 3	1143					binding of sperm to zona pellucida (GO:0007339)	acrosomal vesicle (GO:0001669)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	23		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TGGTCGCCACGCACAGGGCGG	0.597																																																	0													44.0	54.0	51.0					19																	1785261		2194	4297	6491	SO:0001819	synonymous_variant	148229			AA827939	CCDS45901.1, CCDS54196.1	19p13.3	2010-04-28	2010-04-28		ENSG00000130270	ENSG00000130270		"""ATPases / P-type"""	13535	protein-coding gene	gene with protein product	"""aminophospholipid translocase ATP8B3"", ""potential phospholipid-transporting ATPase IK"""	605866	"""ATPase, Class I, type 8B, member 3"", ""ATPase, class I, type 8B, member 3"""			11015572	Standard	NM_138813		Approved	ATPIK	uc002ltw.4	O60423	OTTHUMG00000166189	ENST00000310127.6:c.3429C>T	19.37:g.1785261G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q7Z485|Q8IVB8|Q8N4Y8|Q96M22	Silent	SNP	pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_Dehalogen-like_hydro,superfamily_HAD-like_dom,superfamily_ATPase_cation_domN,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_Plipid-transl,tigrfam_ATPase_P-typ_ion-transptr	p.C1153	ENST00000310127.6	37	c.3459	CCDS45901.1	19																																																																																			ATP8B3	-	NULL		0.597	ATP8B3-002	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	ATP8B3	HGNC	protein_coding	OTTHUMT00000388279.1	G	NM_138813		1785261	-1	no_errors	ENST00000539485	ensembl	human	known	70_37	silent	SNP	0.000	A
ATP8B3	148229	genome.wustl.edu	37	19	1787158	1787158	+	Missense_Mutation	SNP	G	G	T			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr19:1787158G>T	ENST00000310127.6	-	25	3335	c.3097C>A	c.(3097-3099)Ctt>Att	p.L1033I	ATP8B3_ENST00000539485.1_Missense_Mutation_p.L1043I|ATP8B3_ENST00000525591.1_Missense_Mutation_p.L996I	NM_138813.3	NP_620168.1	O60423	AT8B3_HUMAN	ATPase, aminophospholipid transporter, class I, type 8B, member 3	1033					binding of sperm to zona pellucida (GO:0007339)	acrosomal vesicle (GO:0001669)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	23		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		AGGTTGAAAAGAGCCAGGAAC	0.592																																																	0													55.0	60.0	58.0					19																	1787158		1922	4131	6053	SO:0001583	missense	148229			AA827939	CCDS45901.1, CCDS54196.1	19p13.3	2010-04-28	2010-04-28		ENSG00000130270	ENSG00000130270		"""ATPases / P-type"""	13535	protein-coding gene	gene with protein product	"""aminophospholipid translocase ATP8B3"", ""potential phospholipid-transporting ATPase IK"""	605866	"""ATPase, Class I, type 8B, member 3"", ""ATPase, class I, type 8B, member 3"""			11015572	Standard	NM_138813		Approved	ATPIK	uc002ltw.4	O60423	OTTHUMG00000166189	ENST00000310127.6:c.3097C>A	19.37:g.1787158G>T	ENSP00000311336:p.Leu1033Ile	Somatic		WXS	Illumina HiSeq	Phase_IV	Q7Z485|Q8IVB8|Q8N4Y8|Q96M22	Missense_Mutation	SNP	pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_Dehalogen-like_hydro,superfamily_HAD-like_dom,superfamily_ATPase_cation_domN,prints_ATPase_P-typ_ion-transptr,tigrfam_ATPase_P-typ_Plipid-transl,tigrfam_ATPase_P-typ_ion-transptr	p.L1043I	ENST00000310127.6	37	c.3127	CCDS45901.1	19	.	.	.	.	.	.	.	.	.	.	G	13.60	2.285294	0.40394	.	.	ENSG00000130270	ENST00000310127;ENST00000539485;ENST00000525591	D;D;D	0.89415	-2.51;-2.51;-2.51	4.25	0.846	0.18955	.	0.078047	0.52532	D	0.000065	D	0.85652	0.5746	M	0.66560	2.04	0.30457	N	0.774712	P;P	0.45348	0.856;0.748	B;B	0.41374	0.251;0.355	T	0.82444	-0.0454	10	0.72032	D	0.01	.	8.9737	0.35921	0.2392:0.0:0.7608:0.0	.	1033;996	O60423;Q7Z485	AT8B3_HUMAN;.	I	1033;1043;996	ENSP00000311336:L1033I;ENSP00000443574:L1043I;ENSP00000437115:L996I	ENSP00000311336:L1033I	L	-	1	0	ATP8B3	1738158	0.488000	0.25996	0.103000	0.21229	0.314000	0.28054	0.721000	0.25911	0.047000	0.15862	0.561000	0.74099	CTT	ATP8B3	-	NULL		0.592	ATP8B3-002	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	ATP8B3	HGNC	protein_coding	OTTHUMT00000388279.1	G	NM_138813		1787158	-1	no_errors	ENST00000539485	ensembl	human	known	70_37	missense	SNP	0.899	T
ATXN7	6314	genome.wustl.edu	37	3	63976453	63976453	+	Missense_Mutation	SNP	T	T	G			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr3:63976453T>G	ENST00000295900.6	+	11	2150	c.1600T>G	c.(1600-1602)Tac>Gac	p.Y534D	ATXN7_ENST00000398590.3_Missense_Mutation_p.Y534D|ATXN7_ENST00000538065.1_Missense_Mutation_p.Y534D|ATXN7_ENST00000484332.1_Missense_Mutation_p.Y389D|ATXN7_ENST00000487717.1_Missense_Mutation_p.Y534D	NM_000333.3	NP_000324.1	O15265	ATX7_HUMAN	ataxin 7	534					cell death (GO:0008219)|chromatin organization (GO:0006325)|histone deubiquitination (GO:0016578)|microtubule cytoskeleton organization (GO:0000226)|negative regulation of insulin-like growth factor receptor signaling pathway (GO:0043569)|negative regulation of phosphorylation (GO:0042326)|nucleus organization (GO:0006997)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)	chromatin binding (GO:0003682)			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(7)|lung(12)|prostate(2)|stomach(1)|urinary_tract(3)	35		Prostate(884;0.0181)		BRCA - Breast invasive adenocarcinoma(55;0.000614)|KIRC - Kidney renal clear cell carcinoma(15;0.00294)|Kidney(15;0.00305)		AAGAGGCTATTACGTGTTTGA	0.527																																																	0													147.0	144.0	145.0					3																	63976453		2061	4211	6272	SO:0001583	missense	6314			AJ000517	CCDS43102.1, CCDS46861.1, CCDS46861.2, CCDS54603.1	3p21.1-p12	2014-09-17	2004-08-12	2004-08-12	ENSG00000163635	ENSG00000163635		"""Ataxins"""	10560	protein-coding gene	gene with protein product		607640	"""spinocerebellar ataxia 7 (olivopontocerebellar atrophy with retinal degeneration)"""	SCA7		7647798, 10598805	Standard	NM_000333		Approved	OPCA3, ADCAII	uc021wzy.1	O15265	OTTHUMG00000158763	ENST00000295900.6:c.1600T>G	3.37:g.63976453T>G	ENSP00000295900:p.Tyr534Asp	Somatic		WXS	Illumina HiSeq	Phase_IV	B4E207|E9PHP9|O75328|O75329|Q9Y6P8	Missense_Mutation	SNP	pfam_SCA7_dom	p.Y534D	ENST00000295900.6	37	c.1600	CCDS43102.1	3	.	.	.	.	.	.	.	.	.	.	T	28.3	4.904211	0.92035	.	.	ENSG00000163635	ENST00000398590;ENST00000295900;ENST00000487717;ENST00000538065;ENST00000484332	T;T;T;T;T	0.47177	0.85;0.85;0.85;0.85;0.85	5.47	5.47	0.80525	.	0.059692	0.64402	D	0.000002	T	0.69251	0.3090	M	0.78049	2.395	0.80722	D	1	D;D;D	0.89917	0.996;1.0;0.999	P;D;D	0.70716	0.853;0.97;0.961	T	0.73962	-0.3817	10	0.87932	D	0	-13.6106	15.8413	0.78848	0.0:0.0:0.0:1.0	.	389;534;534	E9PHP9;O15265-2;O15265	.;.;ATX7_HUMAN	D	534;534;534;534;389	ENSP00000381590:Y534D;ENSP00000295900:Y534D;ENSP00000420234:Y534D;ENSP00000439585:Y534D;ENSP00000428277:Y389D	ENSP00000295900:Y534D	Y	+	1	0	ATXN7	63951493	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.235000	0.72332	2.202000	0.70862	0.533000	0.62120	TAC	ATXN7	-	NULL		0.527	ATXN7-001	KNOWN	basic|CCDS	protein_coding	ATXN7	HGNC	protein_coding	OTTHUMT00000352070.1	T	NM_000333		63976453	+1	no_errors	ENST00000398590	ensembl	human	known	70_37	missense	SNP	1.000	G
AVIL	10677	genome.wustl.edu	37	12	58201263	58201263	+	Missense_Mutation	SNP	C	C	T	rs146185696		TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr12:58201263C>T	ENST00000257861.3	-	12	1772	c.1342G>A	c.(1342-1344)Gcc>Acc	p.A448T	RNU6-1083P_ENST00000384022.1_RNA|TSFM_ENST00000548851.1_Intron|AVIL_ENST00000537081.1_Missense_Mutation_p.A441T|AVIL_ENST00000550083.1_5'Flank	NM_006576.3	NP_006567.3	O75366	AVIL_HUMAN	advillin	448	Core. {ECO:0000250}.				actin filament capping (GO:0051693)|cilium morphogenesis (GO:0060271)|cytoskeleton organization (GO:0007010)|nervous system development (GO:0007399)|positive regulation of neuron projection development (GO:0010976)	actin cytoskeleton (GO:0015629)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|neuron projection (GO:0043005)	actin binding (GO:0003779)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(9)|ovary(1)|prostate(6)	32	Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)					TCCTGTGAGGCGTGGCGGCCC	0.622																																																	0													89.0	74.0	79.0					12																	58201263		2203	4300	6503	SO:0001583	missense	10677			AF041449	CCDS8959.1	12q13.11	2006-03-30				ENSG00000135407			14188	protein-coding gene	gene with protein product		613397				9664034, 12034507	Standard	NM_006576		Approved	p92, FLJ12386, ADVIL, DOC6	uc001sqj.2	O75366	OTTHUMG00000170461	ENST00000257861.3:c.1342G>A	12.37:g.58201263C>T	ENSP00000257861:p.Ala448Thr	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RAU7|Q2NKM9	Missense_Mutation	SNP	pfam_Gelsolin_dom,pfam_Villin_headpiece,superfamily_Villin_headpiece,smart_Gelsolin,smart_Villin_headpiece,pfscan_Villin_headpiece,prints_Gelsolin	p.A448T	ENST00000257861.3	37	c.1342	CCDS8959.1	12	.	.	.	.	.	.	.	.	.	.	C	23.9	4.475368	0.84640	.	.	ENSG00000135407	ENST00000537081;ENST00000257861	T;T	0.23552	1.9;1.9	5.07	4.18	0.49190	Gelsolin domain (1);	0.050360	0.85682	N	0.000000	T	0.41971	0.1182	L	0.45228	1.405	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.923;1.0	T	0.33854	-0.9852	10	0.87932	D	0	-20.987	12.7134	0.57102	0.0:0.9185:0.0:0.0815	.	441;448	O75366-2;O75366	.;AVIL_HUMAN	T	441;448	ENSP00000443207:A441T;ENSP00000257861:A448T	ENSP00000257861:A448T	A	-	1	0	AVIL	56487530	1.000000	0.71417	0.958000	0.39756	0.844000	0.47949	7.588000	0.82629	1.359000	0.45940	-0.291000	0.09656	GCC	AVIL	-	pfam_Gelsolin_dom,smart_Gelsolin,prints_Gelsolin		0.622	AVIL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AVIL	HGNC	protein_coding	OTTHUMT00000409276.1	C	NM_006576		58201263	-1	no_errors	ENST00000257861	ensembl	human	known	70_37	missense	SNP	0.999	T
AWAT1	158833	genome.wustl.edu	37	X	69456971	69456971	+	Silent	SNP	C	C	T			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chrX:69456971C>T	ENST00000374521.3	+	4	374	c.333C>T	c.(331-333)ggC>ggT	p.G111G	AWAT1_ENST00000480702.1_3'UTR	NM_001013579.2	NP_001013597.1	Q58HT5	AWAT1_HUMAN	acyl-CoA wax alcohol acyltransferase 1	111					lipid metabolic process (GO:0006629)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	long-chain-alcohol O-fatty-acyltransferase activity (GO:0047196)			breast(2)|central_nervous_system(1)|large_intestine(4)|lung(3)|ovary(4)|skin(1)	15						TGACCTTTGGCGCCTTCTGCA	0.562																																																	0													78.0	50.0	60.0					X																	69456971		2203	4300	6503	SO:0001819	synonymous_variant	158833			BC039181	CCDS35321.1	Xq13.1	2010-01-25	2009-02-23	2009-02-23	ENSG00000204195	ENSG00000204195			23252	protein-coding gene	gene with protein product		300924	"""diacylglycerol O-acyltransferase 2-like 3"""	DGAT2L3		14970677, 15671038	Standard	NM_001013579		Approved		uc004dxy.3	Q58HT5	OTTHUMG00000021773	ENST00000374521.3:c.333C>T	X.37:g.69456971C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q5JT21|Q6IEE4	Silent	SNP	pfam_DAGAT	p.G111	ENST00000374521.3	37	c.333	CCDS35321.1	X																																																																																			AWAT1	-	pfam_DAGAT		0.562	AWAT1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	AWAT1	HGNC	protein_coding	OTTHUMT00000057066.3	C	NM_001013579		69456971	+1	no_errors	ENST00000374521	ensembl	human	known	70_37	silent	SNP	0.298	T
B3GAT3	26229	genome.wustl.edu	37	11	62384213	62384213	+	Missense_Mutation	SNP	C	C	T			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr11:62384213C>T	ENST00000265471.5	-	4	901	c.674G>A	c.(673-675)cGa>cAa	p.R225Q	B3GAT3_ENST00000531383.1_Missense_Mutation_p.R225Q|B3GAT3_ENST00000534026.1_Missense_Mutation_p.R225Q	NM_012200.3	NP_036332.2	O94766	B3GA3_HUMAN	beta-1,3-glucuronyltransferase 3	225					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|chondroitin sulfate proteoglycan biosynthetic process (GO:0050650)|dermatan sulfate proteoglycan biosynthetic process (GO:0050651)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process (GO:0015012)|protein glycosylation (GO:0006486)|small molecule metabolic process (GO:0044281)	cis-Golgi network (GO:0005801)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase activity (GO:0015018)|glucuronosyltransferase activity (GO:0015020)|metal ion binding (GO:0046872)			endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(2)|urinary_tract(1)	12						GCCCTCGAATCGCAGGCCGCC	0.647																																																	0													29.0	32.0	31.0					11																	62384213		2202	4299	6501	SO:0001583	missense	26229			AB009598	CCDS8025.1	11q12	2014-07-08	2014-07-08		ENSG00000149541	ENSG00000149541	2.4.1.135	"""Beta-1,3-glucuronyltransferases"""	923	protein-coding gene	gene with protein product	"""glucuronosyltransferase I"", ""galactosylgalactosylxylosylprotein 3-beta-glucuronosyltransferase 3"""	606374	"""beta-1,3-glucuronyltransferase 3 (glucuronosyltransferase I)"""			9506957	Standard	NM_012200		Approved	GlcAT-I	uc001ntw.3	O94766	OTTHUMG00000167685	ENST00000265471.5:c.674G>A	11.37:g.62384213C>T	ENSP00000265471:p.Arg225Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	B7ZAB3|Q96I06|Q9UEP0	Missense_Mutation	SNP	pfam_Glyco_trans_43	p.R225Q	ENST00000265471.5	37	c.674	CCDS8025.1	11	.	.	.	.	.	.	.	.	.	.	c	23.0	4.367674	0.82463	.	.	ENSG00000149541	ENST00000265471;ENST00000531383;ENST00000534026	T;T;T	0.76839	-1.05;-1.05;-1.05	4.78	4.78	0.61160	.	0.059752	0.64402	D	0.000003	D	0.83755	0.5323	M	0.69358	2.11	0.46396	D	0.999029	D;D;D	0.76494	0.998;0.999;0.994	P;P;P	0.60173	0.836;0.87;0.744	T	0.81320	-0.0986	10	0.25106	T	0.35	.	15.3634	0.74499	0.0:1.0:0.0:0.0	.	225;231;225	B7ZAB3;Q5U676;O94766	.;.;B3GA3_HUMAN	Q	225	ENSP00000265471:R225Q;ENSP00000431359:R225Q;ENSP00000432474:R225Q	ENSP00000265471:R225Q	R	-	2	0	B3GAT3	62140789	0.980000	0.34600	0.997000	0.53966	0.993000	0.82548	2.421000	0.44688	2.491000	0.84063	0.556000	0.70494	CGA	B3GAT3	-	pfam_Glyco_trans_43		0.647	B3GAT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	B3GAT3	HGNC	protein_coding	OTTHUMT00000395588.1	C	NM_012200		62384213	-1	no_errors	ENST00000265471	ensembl	human	known	70_37	missense	SNP	1.000	T
DIABLO	56616	genome.wustl.edu	37	12	122692314	122692314	+	3'UTR	SNP	G	G	A			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr12:122692314G>A	ENST00000443649.3	-	0	2151				DIABLO_ENST00000464942.2_3'UTR|B3GNT4_ENST00000546192.1_3'UTR|DIABLO_ENST00000353548.6_3'UTR|B3GNT4_ENST00000545141.1_3'UTR|DIABLO_ENST00000413918.1_3'UTR	NM_019887.4	NP_063940.1	Q9NR28	DBLOH_HUMAN	diablo, IAP-binding mitochondrial protein						activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of cysteine-type endopeptidase activity involved in apoptotic process by cytochrome c (GO:0008635)|apoptotic process (GO:0006915)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|neuron apoptotic process (GO:0051402)|positive regulation of apoptotic process (GO:0043065)	CD40 receptor complex (GO:0035631)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|mitochondrial intermembrane space (GO:0005758)|mitochondrion (GO:0005739)				breast(1)|endometrium(3)|large_intestine(1)|lung(1)|ovary(1)	7	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000302)|Epithelial(86;0.00051)|BRCA - Breast invasive adenocarcinoma(302;0.223)		GGAACAAGAGGCCTGTGTTAA	0.433																																																	0																																										SO:0001624	3_prime_UTR_variant	79369			AF262240	CCDS9228.1, CCDS9229.1, CCDS73541.1	12q24.31	2011-08-02	2011-03-11		ENSG00000184047	ENSG00000184047			21528	protein-coding gene	gene with protein product	"""second mitochondria-derived activator of caspase"""	605219				12749848, 17237824, 21722859	Standard	NM_019887		Approved	SMAC, DIABLO-S, FLJ25049, FLJ10537, DFNA64	uc010tab.2	Q9NR28	OTTHUMG00000157014	ENST00000443649.3:c.*614C>T	12.37:g.122692314G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	B2RDQ0|Q6W3F3|Q96LV0|Q9BT11|Q9HAV6	RNA	SNP	-	NULL	ENST00000443649.3	37	NULL	CCDS9228.1	12																																																																																			B3GNT4	-	-		0.433	DIABLO-003	KNOWN	basic|appris_principal|CCDS	protein_coding	B3GNT4	HGNC	protein_coding	OTTHUMT00000347102.2	G	NM_019887		122692314	+1	no_errors	ENST00000545141	ensembl	human	known	70_37	rna	SNP	0.000	A
BANF1	8815	genome.wustl.edu	37	11	65771228	65771228	+	Silent	SNP	C	C	T			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr11:65771228C>T	ENST00000312175.2	+	3	763	c.255C>T	c.(253-255)tgC>tgT	p.C85C	EIF1AD_ENST00000312234.2_5'Flank|EIF1AD_ENST00000527249.1_5'Flank|BANF1_ENST00000527348.1_Silent_p.C85C|EIF1AD_ENST00000526451.1_5'Flank|EIF1AD_ENST00000525767.1_5'Flank|BANF1_ENST00000524628.1_3'UTR|BANF1_ENST00000445560.2_Silent_p.C85C|EIF1AD_ENST00000533544.1_5'Flank|EIF1AD_ENST00000529964.1_5'Flank|BANF1_ENST00000533166.1_Silent_p.C85C	NM_001143985.1|NM_003860.3	NP_001137457.1|NP_003851.1	O75531	BAF_HUMAN	barrier to autointegration factor 1	85					DNA integration (GO:0015074)|establishment of integrated proviral latency (GO:0075713)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mitotic nuclear envelope reassembly (GO:0007084)|response to virus (GO:0009615)|viral process (GO:0016032)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)			large_intestine(2)|prostate(1)	3						GAGAGTGGTGCGACGCCTTCT	0.562																																																	0													66.0	63.0	64.0					11																	65771228		2201	4296	6497	SO:0001819	synonymous_variant	8815			AF068235	CCDS8125.1	11q13.1	2012-04-19			ENSG00000175334	ENSG00000175334			17397	protein-coding gene	gene with protein product		603811				9465049	Standard	NM_003860		Approved	BAF	uc001ogp.3	O75531	OTTHUMG00000166749	ENST00000312175.2:c.255C>T	11.37:g.65771228C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	O60558|Q6FGG7	Silent	SNP	pfam_BAF_prot,superfamily_BAF_prot	p.C85	ENST00000312175.2	37	c.255	CCDS8125.1	11																																																																																			BANF1	-	pfam_BAF_prot,superfamily_BAF_prot		0.562	BANF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BANF1	HGNC	protein_coding	OTTHUMT00000391340.1	C	NM_003860		65771228	+1	no_errors	ENST00000312175	ensembl	human	known	70_37	silent	SNP	0.156	T
BANP	54971	genome.wustl.edu	37	16	88110455	88110455	+	3'UTR	SNP	G	G	A			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr16:88110455G>A	ENST00000393207.1	+	0	1969				RP11-863P13.5_ENST00000568267.1_lincRNA|BANP_ENST00000393208.2_3'UTR|BANP_ENST00000355163.5_3'UTR|BANP_ENST00000286122.7_3'UTR|BANP_ENST00000538234.1_3'UTR|BANP_ENST00000481948.1_3'UTR|BANP_ENST00000355022.4_3'UTR	NM_001173543.1	NP_001167014.1	Q8N9N5	BANP_HUMAN	BTG3 associated nuclear protein						cell cycle (GO:0007049)|chromatin modification (GO:0016568)|multicellular organismal development (GO:0007275)|negative regulation of protein catabolic process (GO:0042177)|protein localization to nucleus (GO:0034504)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(1)|endometrium(2)|large_intestine(3)|lung(5)|prostate(1)	12				BRCA - Breast invasive adenocarcinoma(80;0.00551)		GCCCCCAGCCGGAGACCCCTT	0.617																																																	0																																										SO:0001624	3_prime_UTR_variant	54971			AK094158	CCDS10966.2, CCDS42215.1, CCDS54052.1, CCDS54053.1, CCDS54054.1	16q24	2012-11-22			ENSG00000172530	ENSG00000172530		"""BEN domain containing"""	13450	protein-coding gene	gene with protein product	"""BEN domain containing 1"""	611564				10940556, 10950932	Standard	NM_017869		Approved	SMARBP1, SMAR1, FLJ20538, DKFZp761H172, FLJ10177, BEND1	uc010vow.2	Q8N9N5	OTTHUMG00000137678	ENST00000393207.1:c.*188G>A	16.37:g.88110455G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	A8MU25|A8MX25|B2RCF7|B4DNJ9|F5GZM0|Q96GJ7|Q9NWY1	RNA	SNP	-	NULL	ENST00000393207.1	37	NULL	CCDS54054.1	16																																																																																			BANP	-	-		0.617	BANP-002	KNOWN	basic|CCDS	protein_coding	BANP	HGNC	protein_coding	OTTHUMT00000269166.1	G	NM_017869		88110455	+1	no_errors	ENST00000481948	ensembl	human	known	70_37	rna	SNP	0.000	A
BARHL2	343472	genome.wustl.edu	37	1	91182143	91182143	+	Missense_Mutation	SNP	C	C	T			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr1:91182143C>T	ENST00000370445.4	-	1	651	c.610G>A	c.(610-612)Gac>Aac	p.D204N		NM_020063.1	NP_064447.1	Q9NY43	BARH2_HUMAN	BarH-like homeobox 2	204					cell fate determination (GO:0001709)|neuron differentiation (GO:0030182)|neuron migration (GO:0001764)|positive regulation of translation (GO:0045727)|regulation of axon extension (GO:0030516)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)			cervix(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24		all_lung(203;0.0263)|Lung SC(238;0.128)		all cancers(265;0.000897)|Epithelial(280;0.00516)|OV - Ovarian serous cystadenocarcinoma(397;0.211)		CATTTGATGTCGCTCTGGGAA	0.607																																					GBM(199;3561 4100 22440)												0													78.0	68.0	71.0					1																	91182143		2203	4300	6503	SO:0001583	missense	343472			AJ251753	CCDS730.1	1p22.2	2011-07-08	2007-07-09		ENSG00000143032	ENSG00000143032		"""Homeoboxes / ANTP class : NKL subclass"""	954	protein-coding gene	gene with protein product		605212	"""BarH (Drosophila)-like 2"""				Standard	NM_020063		Approved		uc001dns.3	Q9NY43	OTTHUMG00000010020	ENST00000370445.4:c.610G>A	1.37:g.91182143C>T	ENSP00000359474:p.Asp204Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	A0AVP2|Q7Z4N7	Missense_Mutation	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_Homeobox_metazoa	p.D204N	ENST00000370445.4	37	c.610	CCDS730.1	1	.	.	.	.	.	.	.	.	.	.	C	23.1	4.374161	0.82573	.	.	ENSG00000143032	ENST00000370445	D	0.90955	-2.76	5.93	5.93	0.95920	.	0.094419	0.64402	D	0.000001	T	0.75860	0.3907	N	0.08118	0	0.80722	D	1	P	0.50943	0.94	B	0.40636	0.335	T	0.79080	-0.1950	10	0.27785	T	0.31	.	18.9148	0.92501	0.0:1.0:0.0:0.0	.	204	Q9NY43	BARH2_HUMAN	N	204	ENSP00000359474:D204N	ENSP00000359474:D204N	D	-	1	0	BARHL2	90954731	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.249000	0.78278	2.805000	0.96524	0.655000	0.94253	GAC	BARHL2	-	NULL		0.607	BARHL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BARHL2	HGNC	protein_coding	OTTHUMT00000027728.2	C			91182143	-1	no_errors	ENST00000370445	ensembl	human	known	70_37	missense	SNP	1.000	T
BAZ2B	29994	genome.wustl.edu	37	2	160310196	160310196	+	Missense_Mutation	SNP	C	C	T			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr2:160310196C>T	ENST00000392783.2	-	4	757	c.262G>A	c.(262-264)Gaa>Aaa	p.E88K	BAZ2B_ENST00000343439.5_Missense_Mutation_p.E88K|BAZ2B_ENST00000355831.2_Missense_Mutation_p.E88K|BAZ2B_ENST00000392782.1_Missense_Mutation_p.E88K	NM_013450.2	NP_038478.2	Q9UIF8	BAZ2B_HUMAN	bromodomain adjacent to zinc finger domain, 2B	88					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(7)|liver(2)|lung(41)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1)	82						CCACCAAATTCTGAATGCCCT	0.502																																																	0													96.0	97.0	97.0					2																	160310196		1951	4146	6097	SO:0001583	missense	29994			AB032255	CCDS2209.2, CCDS74594.1	2q24.2	2013-01-28			ENSG00000123636	ENSG00000123636		"""Zinc fingers, PHD-type"""	963	protein-coding gene	gene with protein product		605683				10662543	Standard	XM_005246488		Approved	WALp4	uc002uao.3	Q9UIF8	OTTHUMG00000132027	ENST00000392783.2:c.262G>A	2.37:g.160310196C>T	ENSP00000376534:p.Glu88Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	D3DPA8|Q96EA1|Q96SQ8|Q9P252|Q9Y4N8	Missense_Mutation	SNP	pfam_Bromodomain,pfam_Methyl_CpG_DNA-bd,pfam_DDT_dom,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_DNA-bd_integrase-typ,superfamily_Znf_FYVE_PHD,superfamily_ARM-type_fold,smart_Methyl_CpG_DNA-bd,smart_DDT_dom_subgr,smart_Znf_PHD,smart_Bromodomain,pfscan_Methyl_CpG_DNA-bd,pfscan_Znf_PHD-finger,pfscan_DDT_dom_superfamily,pfscan_Bromodomain,prints_Bromodomain	p.E88K	ENST00000392783.2	37	c.262	CCDS2209.2	2	.	.	.	.	.	.	.	.	.	.	C	22.6	4.309125	0.81247	.	.	ENSG00000123636	ENST00000392782;ENST00000392783;ENST00000355831;ENST00000343439;ENST00000437839	T;T;T;T;T	0.33438	1.41;1.41;1.41;1.41;1.41	5.46	5.46	0.80206	.	.	.	.	.	T	0.53818	0.1820	L	0.59436	1.845	0.41997	D	0.990873	B;D;D;D	0.67145	0.004;0.996;0.996;0.993	B;D;D;D	0.77557	0.016;0.99;0.99;0.978	T	0.55679	-0.8103	9	0.87932	D	0	-12.213	18.0617	0.89379	0.0:1.0:0.0:0.0	.	88;88;88;88	Q6MZK7;Q9UIF8-2;Q9UIF8-5;Q9UIF8	.;.;.;BAZ2B_HUMAN	K	88	ENSP00000376533:E88K;ENSP00000376534:E88K;ENSP00000348087:E88K;ENSP00000339670:E88K;ENSP00000415613:E88K	ENSP00000339670:E88K	E	-	1	0	BAZ2B	160018442	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.917000	0.75782	2.556000	0.86216	0.655000	0.94253	GAA	BAZ2B	-	NULL		0.502	BAZ2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BAZ2B	HGNC	protein_coding	OTTHUMT00000255037.2	C			160310196	-1	no_errors	ENST00000392783	ensembl	human	known	70_37	missense	SNP	1.000	T
BBX	56987	genome.wustl.edu	37	3	107492169	107492169	+	Missense_Mutation	SNP	G	G	C			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr3:107492169G>C	ENST00000325805.8	+	11	1888	c.1601G>C	c.(1600-1602)aGa>aCa	p.R534T	BBX_ENST00000406780.1_Missense_Mutation_p.R534T|BBX_ENST00000416476.2_Intron|BBX_ENST00000415149.2_Missense_Mutation_p.R534T|BBX_ENST00000402543.1_Missense_Mutation_p.R534T			Q8WY36	BBX_HUMAN	bobby sox homolog (Drosophila)	534	Lys-rich.				bone development (GO:0060348)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(18)|ovary(4)|pancreas(1)|skin(2)	49			OV - Ovarian serous cystadenocarcinoma(3;0.112)			GTGAAATCAAGAGAGAAGAAA	0.438																																																	0													78.0	77.0	77.0					3																	107492169		2203	4300	6503	SO:0001583	missense	56987			AF168718	CCDS2950.1, CCDS46881.1, CCDS63712.1	3q13.1	2008-07-18			ENSG00000114439	ENSG00000114439			14422	protein-coding gene	gene with protein product	"""x 001 protein"""					11680820	Standard	NM_001142568		Approved	MDS001, HSPC339, HBP2	uc010hpr.4	Q8WY36	OTTHUMG00000150360	ENST00000325805.8:c.1601G>C	3.37:g.107492169G>C	ENSP00000319974:p.Arg534Thr	Somatic		WXS	Illumina HiSeq	Phase_IV	A2RRM7|Q2TAJ1|Q7L3J8|Q7LBY8|Q8NDB0|Q8WY35|Q9H0J6	Missense_Mutation	SNP	pfam_TF_HMG_box_BBX_DUF2028,pfam_HMG_superfamily,superfamily_HMG_superfamily,smart_HMG_superfamily,pfscan_HMG_superfamily	p.R534T	ENST00000325805.8	37	c.1601	CCDS46881.1	3	.	.	.	.	.	.	.	.	.	.	G	13.13	2.144002	0.37825	.	.	ENSG00000114439	ENST00000415149;ENST00000402543;ENST00000325805;ENST00000406780	T;T;T;T	0.52295	0.67;0.67;0.67;0.67	6.07	1.78	0.24846	.	0.093067	0.64402	D	0.000001	T	0.19446	0.0467	N	0.08118	0	0.26004	N	0.98208	P;P;B	0.37914	0.611;0.611;0.145	B;B;B	0.29524	0.103;0.103;0.031	T	0.11324	-1.0592	10	0.30854	T	0.27	-7.5466	6.7061	0.23252	0.6321:0.0:0.3679:0.0	.	534;534;534	C9JA69;Q8WY36;Q8WY36-2	.;BBX_HUMAN;.	T	534	ENSP00000408358:R534T;ENSP00000385317:R534T;ENSP00000319974:R534T;ENSP00000385530:R534T	ENSP00000319974:R534T	R	+	2	0	BBX	108974859	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.731000	0.62022	0.445000	0.26639	0.585000	0.79938	AGA	BBX	-	NULL		0.438	BBX-007	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	BBX	HGNC	protein_coding	OTTHUMT00000317820.1	G	NM_020235		107492169	+1	no_errors	ENST00000325805	ensembl	human	known	70_37	missense	SNP	1.000	C
BCHE	590	genome.wustl.edu	37	3	165547700	165547700	+	Silent	SNP	A	A	C			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr3:165547700A>C	ENST00000264381.3	-	2	1288	c.1122T>G	c.(1120-1122)acT>acG	p.T374T	BCHE_ENST00000540653.1_Intron	NM_000055.2	NP_000046.1	P06276	CHLE_HUMAN	butyrylcholinesterase	374					cellular protein metabolic process (GO:0044267)|choline metabolic process (GO:0019695)|cocaine metabolic process (GO:0050783)|learning (GO:0007612)|negative regulation of cell proliferation (GO:0008285)|negative regulation of synaptic transmission (GO:0050805)|neuroblast differentiation (GO:0014016)|response to alkaloid (GO:0043279)|response to drug (GO:0042493)|response to folic acid (GO:0051593)|response to glucocorticoid (GO:0051384)|synaptic transmission, cholinergic (GO:0007271)	blood microparticle (GO:0072562)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|nuclear envelope lumen (GO:0005641)	acetylcholinesterase activity (GO:0003990)|beta-amyloid binding (GO:0001540)|catalytic activity (GO:0003824)|choline binding (GO:0033265)|cholinesterase activity (GO:0004104)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)			breast(1)|endometrium(2)|kidney(1)|large_intestine(10)|lung(34)|ovary(4)|pancreas(2)|stomach(1)	55					Aclidinium(DB08897)|Ambenonium(DB01122)|Bambuterol(DB01408)|Chloroprocaine(DB01161)|Chlorphenesin(DB00856)|Chlorpromazine(DB00477)|Choline(DB00122)|Cinchocaine(DB00527)|Cisplatin(DB00515)|Clevidipine(DB04920)|Cyclopentolate(DB00979)|Decamethonium(DB01245)|Demecarium(DB00944)|Diethylcarbamazine(DB00711)|Dipivefrin(DB00449)|Doxacurium chloride(DB01135)|Drospirenone(DB01395)|Echothiophate(DB01057)|Edrophonium(DB01010)|Ephedrine(DB01364)|Ethopropazine(DB00392)|Galantamine(DB00674)|Hexafluronium(DB00941)|Irinotecan(DB00762)|Isoflurophate(DB00677)|Malathion(DB00772)|Mefloquine(DB00358)|Mirabegron(DB08893)|Mivacurium(DB01226)|Neostigmine(DB01400)|Nizatidine(DB00585)|Oxybuprocaine(DB00892)|Pancuronium(DB01337)|Pegvisomant(DB00082)|Pentagastrin(DB00183)|Perindopril(DB00790)|Pipecuronium(DB01338)|Pralidoxime(DB00733)|Procainamide(DB01035)|Procaine(DB00721)|Pyridostigmine(DB00545)|Ramipril(DB00178)|Rivastigmine(DB00989)|Succinylcholine(DB00202)|Sulpiride(DB00391)|Terbutaline(DB00871)|Triamcinolone(DB00620)|Triflupromazine(DB00508)|Trimethaphan(DB01116)	ATTCTTTTCTAGTTATGATAC	0.358																																																	0													27.0	30.0	29.0					3																	165547700		2200	4288	6488	SO:0001819	synonymous_variant	590			M16541	CCDS3198.1	3q26.1-q26.2	2013-07-10			ENSG00000114200	ENSG00000114200	3.1.1.8		983	protein-coding gene	gene with protein product		177400	"""cholinesterase 1"", ""cholinesterase (serum) 2"""	CHE1, CHE2		1769657, 2318303	Standard	NM_000055		Approved	E1	uc003fem.4	P06276	OTTHUMG00000158131	ENST00000264381.3:c.1122T>G	3.37:g.165547700A>C		Somatic		WXS	Illumina HiSeq	Phase_IV	A8K7P8	Silent	SNP	pfam_CarbesteraseB,pfam_AChE_tetra,pfam_AB_hydrolase_3,prints_Cholinesterase	p.T374	ENST00000264381.3	37	c.1122	CCDS3198.1	3																																																																																			BCHE	-	pfam_CarbesteraseB		0.358	BCHE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BCHE	HGNC	protein_coding	OTTHUMT00000350254.1	A			165547700	-1	no_errors	ENST00000264381	ensembl	human	known	70_37	silent	SNP	0.000	C
BCL10	8915	genome.wustl.edu	37	1	85742018	85742018	+	Silent	SNP	C	C	A			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr1:85742018C>A	ENST00000370580.1	-	1	755	c.18G>T	c.(16-18)ccG>ccT	p.P6P	RP11-131L23.1_ENST00000426125.1_RNA|RP11-131L23.1_ENST00000427819.1_RNA	NM_003921.4	NP_003912.1	O95999	BCL10_HUMAN	B-cell CLL/lymphoma 10	6					adaptive immune response (GO:0002250)|B cell apoptotic process (GO:0001783)|cell death (GO:0008219)|cellular defense response (GO:0006968)|cellular response to mechanical stimulus (GO:0071260)|Fc-epsilon receptor signaling pathway (GO:0038095)|immunoglobulin mediated immune response (GO:0016064)|innate immune response (GO:0045087)|interleukin-6 biosynthetic process (GO:0042226)|lymphotoxin A biosynthetic process (GO:0042109)|negative regulation of mature B cell apoptotic process (GO:0002906)|neural tube closure (GO:0001843)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-8 biosynthetic process (GO:0045416)|positive regulation of mast cell cytokine production (GO:0032765)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of T cell activation (GO:0050870)|positive regulation of transcription, DNA-templated (GO:0045893)|protein homooligomerization (GO:0051260)|protein oligomerization (GO:0051259)|regulation of T cell receptor signaling pathway (GO:0050856)|response to food (GO:0032094)|response to fungus (GO:0009620)|response to molecule of bacterial origin (GO:0002237)|T cell apoptotic process (GO:0070231)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor signaling pathway (GO:0002224)	CBM complex (GO:0032449)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|immunological synapse (GO:0001772)|lysosome (GO:0005764)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	enzyme binding (GO:0019899)|kinase binding (GO:0019900)|NF-kappaB binding (GO:0051059)|protease binding (GO:0002020)|protein C-terminus binding (GO:0008022)|protein kinase B binding (GO:0043422)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|ubiquitin binding (GO:0043130)|ubiquitin protein ligase binding (GO:0031625)			haematopoietic_and_lymphoid_tissue(7)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1)	19				all cancers(265;0.0114)|Epithelial(280;0.0311)		CGGTGAGGGACGGTGCGGTGG	0.721			T	IGH@	MALT																																NSCLC(34;993 1034 12176 32621 50182)			Dom	yes		1	1p22	8915	B-cell CLL/lymphoma 10		L	0													65.0	59.0	61.0					1																	85742018		2203	4300	6503	SO:0001819	synonymous_variant	8915			AJ006288	CCDS704.1	1p22	2008-07-18			ENSG00000142867	ENSG00000142867			989	protein-coding gene	gene with protein product	"""CARD-like apoptotic protein"", ""CARD-containing apoptotic signaling protein"", ""CARD containing molecule enhancing NF-kB"", ""caspase-recruiting domain-containing protein"", ""CARD-containing proapoptotic protein"""	603517				9989495	Standard	NM_003921		Approved	CARMEN, CIPER, mE10, c-E10, CLAP	uc021opd.1	O95999	OTTHUMG00000009965	ENST00000370580.1:c.18G>T	1.37:g.85742018C>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q5VUF1	Silent	SNP	pfam_CARD,superfamily_DEATH-like,pfscan_CARD	p.P6	ENST00000370580.1	37	c.18	CCDS704.1	1																																																																																			BCL10	-	NULL		0.721	BCL10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BCL10	HGNC	protein_coding	OTTHUMT00000027612.1	C	NM_003921		85742018	-1	no_errors	ENST00000271015	ensembl	human	known	70_37	silent	SNP	0.997	A
BCOR	54880	genome.wustl.edu	37	X	39922921	39922921	+	Nonsense_Mutation	SNP	C	C	A			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chrX:39922921C>A	ENST00000378444.4	-	8	4015	c.3787G>T	c.(3787-3789)Gag>Tag	p.E1263*	BCOR_ENST00000378455.4_Nonsense_Mutation_p.E1211*|BCOR_ENST00000342274.4_Nonsense_Mutation_p.E1229*|BCOR_ENST00000378463.1_Nonsense_Mutation_p.E106*|BCOR_ENST00000397354.3_Nonsense_Mutation_p.E1229*	NM_001123385.1	NP_001116857.1	Q6W2J9	BCOR_HUMAN	BCL6 corepressor	1263					heart development (GO:0007507)|histone H2A monoubiquitination (GO:0035518)|negative regulation of bone mineralization (GO:0030502)|negative regulation of histone H3-K36 methylation (GO:0000415)|negative regulation of histone H3-K4 methylation (GO:0051572)|negative regulation of tooth mineralization (GO:0070171)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|odontogenesis (GO:0042476)|palate development (GO:0060021)|specification of axis polarity (GO:0065001)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	heat shock protein binding (GO:0031072)|histone deacetylase binding (GO:0042826)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			breast(4)|central_nervous_system(11)|cervix(1)|endometrium(24)|eye(6)|haematopoietic_and_lymphoid_tissue(33)|kidney(2)|large_intestine(11)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	126						CCTTTGGCCTCTGCCCTTTTC	0.567			"""F, N, S, T"""	RARA	"""retinoblastoma, AML, APL(translocation)"""		oculo-facio-cardio-dental genetic																																	Rec	yes		X	Xp11.4	54880	BCL6 corepressor	yes		0													226.0	175.0	192.0					X																	39922921		2202	4300	6502	SO:0001587	stop_gained	54880			AF317391	CCDS14250.1, CCDS48092.1, CCDS48093.1	Xp11.4	2014-09-17	2010-06-10		ENSG00000183337	ENSG00000183337		"""Ankyrin repeat domain containing"""	20893	protein-coding gene	gene with protein product		300485	"""BCL6 co-repressor"""			10898795	Standard	NM_017745		Approved	FLJ20285, KIAA1575	uc004den.4	Q6W2J9	OTTHUMG00000024100	ENST00000378444.4:c.3787G>T	X.37:g.39922921C>A	ENSP00000367705:p.Glu1263*	Somatic		WXS	Illumina HiSeq	Phase_IV	D3DWB3|D3DWB4|Q29RF6|Q6P4B6|Q7Z2K7|Q8TEB4|Q96DB3|Q9H232|Q9H233|Q9HCJ7|Q9NXF2	Nonsense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.E1263*	ENST00000378444.4	37	c.3787	CCDS48093.1	X	.	.	.	.	.	.	.	.	.	.	C	44	11.269392	0.99539	.	.	ENSG00000183337	ENST00000413905;ENST00000378463;ENST00000378455;ENST00000397354;ENST00000378444;ENST00000342274;ENST00000406200	.	.	.	5.67	5.67	0.87782	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	-29.2593	18.7977	0.92001	0.0:1.0:0.0:0.0	.	.	.	.	X	133;106;1211;1229;1263;1229;1229	.	ENSP00000345923:E1229X	E	-	1	0	BCOR	39807865	1.000000	0.71417	0.998000	0.56505	0.986000	0.74619	5.670000	0.68088	2.385000	0.81259	0.529000	0.55759	GAG	BCOR	-	NULL		0.567	BCOR-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	BCOR	HGNC	protein_coding	OTTHUMT00000060666.2	C	NM_017745		39922921	-1	no_errors	ENST00000378444	ensembl	human	known	70_37	nonsense	SNP	1.000	A
BCS1L	617	genome.wustl.edu	37	2	219526252	219526252	+	Missense_Mutation	SNP	C	C	G			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr2:219526252C>G	ENST00000431802.1	+	3	1143	c.444C>G	c.(442-444)ttC>ttG	p.F148L	BCS1L_ENST00000392111.2_Missense_Mutation_p.F148L|BCS1L_ENST00000359273.3_Missense_Mutation_p.F148L|BCS1L_ENST00000392109.1_Missense_Mutation_p.F148L|BCS1L_ENST00000439945.1_Missense_Mutation_p.F148L|BCS1L_ENST00000392110.2_Missense_Mutation_p.F148L|BCS1L_ENST00000412366.1_Missense_Mutation_p.F148L|ZNF142_ENST00000449707.1_5'Flank|ZNF142_ENST00000411696.2_5'Flank			Q9Y276	BCS1_HUMAN	BC1 (ubiquinol-cytochrome c reductase) synthesis-like	148					mitochondrial respiratory chain complex I assembly (GO:0032981)|mitochondrial respiratory chain complex III assembly (GO:0034551)|mitochondrial respiratory chain complex IV assembly (GO:0033617)|mitochondrion organization (GO:0007005)	mitochondrial respiratory chain complex III (GO:0005750)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)			endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)	8		Renal(207;0.0474)		Epithelial(149;7.12e-07)|all cancers(144;0.000131)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		AGGTTTTCTTCAACATCCTGG	0.522																																																	0													63.0	67.0	66.0					2																	219526252		2203	4300	6503	SO:0001583	missense	617			AF026849	CCDS2419.1	2q35	2014-09-17	2012-10-12		ENSG00000074582	ENSG00000074582		"""ATPases / AAA-type"", ""Mitochondrial respiratory chain complex assembly factors"""	1020	protein-coding gene	gene with protein product	"""GRACILE syndrome"", ""Bjornstad syndrome"""	603647	"""BCS1 (yeast homolog)-like"", ""BCS1-like (yeast)"", ""BCS1-like (S. cerevisiae)"""			9878253, 17314340	Standard	NM_001079866		Approved	Hs.6719, BCS, h-BCS, BJS	uc002viq.3	Q9Y276	OTTHUMG00000133114	ENST00000431802.1:c.444C>G	2.37:g.219526252C>G	ENSP00000413908:p.Phe148Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	B3KTW9|Q7Z2V7	Missense_Mutation	SNP	pfam_BCS1_N,pfam_ATPase_AAA_core,smart_AAA+_ATPase	p.F148L	ENST00000431802.1	37	c.444	CCDS2419.1	2	.	.	.	.	.	.	.	.	.	.	C	12.83	2.056340	0.36277	.	.	ENSG00000074582	ENST00000430322;ENST00000456050;ENST00000443791;ENST00000359273;ENST00000392109;ENST00000392110;ENST00000392111;ENST00000412366;ENST00000439945;ENST00000431802	D;D;D;D;D;D;D;D;D;D	0.96041	-3.89;-3.89;-3.89;-3.89;-3.89;-3.89;-3.89;-3.89;-3.89;-3.89	5.33	4.38	0.52667	BCS1, N-terminal (1);	0.046461	0.85682	D	0.000000	D	0.95153	0.8429	M	0.81802	2.56	0.58432	D	0.999999	B	0.17268	0.021	B	0.29524	0.103	D	0.92853	0.6299	10	0.39692	T	0.17	-19.3426	14.589	0.68351	0.0:0.9198:0.0:0.0802	.	148	Q9Y276	BCS1_HUMAN	L	148;148;28;148;148;148;148;148;148;148	ENSP00000398957:F148L;ENSP00000395440:F148L;ENSP00000412729:F28L;ENSP00000352219:F148L;ENSP00000375957:F148L;ENSP00000375958:F148L;ENSP00000375959:F148L;ENSP00000406494:F148L;ENSP00000404999:F148L;ENSP00000413908:F148L	ENSP00000352219:F148L	F	+	3	2	BCS1L	219234496	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.771000	0.47670	2.774000	0.95407	0.650000	0.86243	TTC	BCS1L	-	pfam_BCS1_N		0.522	BCS1L-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	BCS1L	HGNC	protein_coding	OTTHUMT00000336756.1	C	NM_004328		219526252	+1	no_errors	ENST00000359273	ensembl	human	known	70_37	missense	SNP	1.000	G
BEND7	222389	genome.wustl.edu	37	10	13489309	13489309	+	Silent	SNP	C	C	T			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr10:13489309C>T	ENST00000396900.2	-	8	1190	c.1191G>A	c.(1189-1191)gcG>gcA	p.A397A	BEND7_ENST00000378605.3_Silent_p.A358A|BEND7_ENST00000396898.2_Silent_p.A410A|BEND7_ENST00000341083.3_Silent_p.A346A|BEND7_ENST00000486542.1_5'UTR			Q8N7W2	BEND7_HUMAN	BEN domain containing 7	397						extracellular vesicular exosome (GO:0070062)				breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(2)|ovary(2)|prostate(1)|stomach(1)	17						CATCACTGTCCGCGATCTCTG	0.388																																																	0													190.0	163.0	172.0					10																	13489309		2203	4300	6503	SO:0001819	synonymous_variant	222389			BC031618	CCDS7099.1, CCDS41490.1	10p14	2012-11-22	2008-10-03	2008-10-03	ENSG00000165626	ENSG00000165626		"""BEN domain containing"""	23514	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 30"""	C10orf30			Standard	NM_152751		Approved	FLJ40283	uc001imm.2	Q8N7W2	OTTHUMG00000017699	ENST00000396900.2:c.1191G>A	10.37:g.13489309C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q5SYY7|Q5SYY8|Q5SYY9|Q8N5T7	Silent	SNP	pfam_BEN_domain	p.A397	ENST00000396900.2	37	c.1191		10																																																																																			BEND7	-	NULL		0.388	BEND7-202	KNOWN	basic	protein_coding	BEND7	HGNC	protein_coding		C	NM_152751		13489309	-1	no_errors	ENST00000396900	ensembl	human	known	70_37	silent	SNP	0.978	T
BHLHB9	80823	genome.wustl.edu	37	X	102004336	102004336	+	Missense_Mutation	SNP	A	A	G			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chrX:102004336A>G	ENST00000372735.1	+	4	998	c.413A>G	c.(412-414)gAt>gGt	p.D138G	BHLHB9_ENST00000457056.1_Missense_Mutation_p.D138G|BHLHB9_ENST00000448867.1_Missense_Mutation_p.D138G|BHLHB9_ENST00000447531.1_Missense_Mutation_p.D138G|BHLHB9_ENST00000361229.4_Missense_Mutation_p.D138G			Q6PI77	BHLH9_HUMAN	basic helix-loop-helix domain containing, class B, 9	138					learning or memory (GO:0007611)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of neurogenesis (GO:0050769)|positive regulation of synapse assembly (GO:0051965)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	protein homodimerization activity (GO:0042803)			cervix(1)|endometrium(6)|kidney(3)|large_intestine(1)|lung(8)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						ACTAAGAATGATAAACCTGAA	0.537																																																	0													79.0	77.0	78.0					X																	102004336		2203	4300	6503	SO:0001583	missense	80823			AB051488	CCDS14502.1	Xq23	2014-03-21			ENSG00000198908	ENSG00000198908		"""Basic helix-loop-helix proteins"", ""Armadillo repeat containing"""	29353	protein-coding gene	gene with protein product		300921				11214970, 15034937, 16221301	Standard	NM_030639		Approved	p60TRP, KIAA1701, GASP3	uc011mrv.2	Q6PI77	OTTHUMG00000022060	ENST00000372735.1:c.413A>G	X.37:g.102004336A>G	ENSP00000361820:p.Asp138Gly	Somatic		WXS	Illumina HiSeq	Phase_IV	Q9C0G2	Missense_Mutation	SNP	pfam_ARM-rpt_dom,superfamily_ARM-type_fold	p.D138G	ENST00000372735.1	37	c.413	CCDS14502.1	X	.	.	.	.	.	.	.	.	.	.	A	1.719	-0.497110	0.04291	.	.	ENSG00000198908	ENST00000457056;ENST00000361229;ENST00000447531;ENST00000448867;ENST00000372735	T;T;T;T;T	0.11930	2.73;2.73;2.73;2.73;2.73	4.46	2.01	0.26516	.	1.948520	0.03041	N	0.153401	T	0.07007	0.0178	N	0.08118	0	0.09310	N	1	B	0.12013	0.005	B	0.08055	0.003	T	0.31806	-0.9930	9	.	.	.	-18.8968	2.4842	0.04595	0.5743:0.0:0.2199:0.2058	.	138	Q6PI77	BHLH9_HUMAN	G	138	ENSP00000403226:D138G;ENSP00000354675:D138G;ENSP00000405893:D138G;ENSP00000391722:D138G;ENSP00000361820:D138G	.	D	+	2	0	BHLHB9	101890992	1.000000	0.71417	0.105000	0.21289	0.029000	0.11900	1.773000	0.38563	0.301000	0.22738	0.430000	0.28490	GAT	BHLHB9	-	NULL		0.537	BHLHB9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BHLHB9	HGNC	protein_coding	OTTHUMT00000057630.1	A	NM_030639		102004336	+1	no_errors	ENST00000361229	ensembl	human	known	70_37	missense	SNP	0.199	G
CCAR2	57805	genome.wustl.edu	37	8	22478789	22478789	+	3'UTR	SNP	C	C	T			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr8:22478789C>T	ENST00000308511.4	+	0	4615				BIN3_ENST00000399977.4_3'UTR|BIN3_ENST00000276416.6_3'UTR|BIN3_ENST00000519513.1_3'UTR|BIN3_ENST00000519335.1_5'UTR			Q8N163	CCAR2_HUMAN	cell cycle and apoptosis regulator 2						cell cycle (GO:0007049)|cellular response to DNA damage stimulus (GO:0006974)|mitochondrial fragmentation involved in apoptotic process (GO:0043653)|mRNA processing (GO:0006397)|negative regulation of catalytic activity (GO:0043086)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902230)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA damage checkpoint (GO:2000003)|regulation of circadian rhythm (GO:0042752)|regulation of DNA-templated transcription, elongation (GO:0032784)|regulation of protein stability (GO:0031647)|response to UV (GO:0009411)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|DBIRD complex (GO:0044609)|mitochondrial matrix (GO:0005759)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|poly(A) RNA binding (GO:0044822)|RNA polymerase II core binding (GO:0000993)										GTGCCAGGCTCAGGAAGAGTC	0.587																																																	0																																										SO:0001624	3_prime_UTR_variant	55909			AL834351	CCDS34863.1	8p22	2013-08-22	2013-08-22	2013-08-22		ENSG00000158941			23360	protein-coding gene	gene with protein product	"""deleted in breast cancer"""	607359	"""KIAA1967"""	KIAA1967		12370419	Standard	NM_021174		Approved	DBC-1, DBC1, NET35	uc003xci.3	Q8N163		ENST00000308511.4:c.*1594C>T	8.37:g.22478789C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A6NL03|B2RB79|D3DSR6|Q6P0Q9|Q8N3G7|Q8N8M1|Q8TF34|Q9H9Q9|Q9HD12|Q9NT55	RNA	SNP	-	NULL	ENST00000308511.4	37	NULL	CCDS34863.1	8																																																																																			BIN3	-	-		0.587	CCAR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BIN3	HGNC	protein_coding	OTTHUMT00000375865.1	C	NM_021174		22478789	-1	no_errors	ENST00000519335	ensembl	human	known	70_37	rna	SNP	0.000	T
BIRC8	112401	genome.wustl.edu	37	19	53793036	53793036	+	Missense_Mutation	SNP	C	C	T			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr19:53793036C>T	ENST00000426466.1	-	1	1839	c.592G>A	c.(592-594)Gct>Act	p.A198T		NM_033341.4	NP_203127.3	Q96P09	BIRC8_HUMAN	baculoviral IAP repeat containing 8	198					apoptotic process (GO:0006915)	cytoplasm (GO:0005737)	zinc ion binding (GO:0008270)			NS(1)|breast(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(10)|urinary_tract(1)	19				GBM - Glioblastoma multiforme(134;0.00304)		AAAACAACAGCGATATGTCTG	0.443																																																	0													112.0	112.0	112.0					19																	53793036		2203	4300	6503	SO:0001583	missense	112401			AF164682	CCDS12863.1	19q13.3-q13.4	2011-01-25	2011-01-25			ENSG00000163098		"""Baculoviral IAP repeat containing"""	14878	protein-coding gene	gene with protein product	"""IAP-like protein 2"", ""inhibitor of apoptosis-like protein 2"""		"""baculoviral IAP repeat-containing 8"""			11390657	Standard	NM_033341		Approved	ILP-2, hILP2	uc002qbk.3	Q96P09		ENST00000426466.1:c.592G>A	19.37:g.53793036C>T	ENSP00000412957:p.Ala198Thr	Somatic		WXS	Illumina HiSeq	Phase_IV	Q6IPY1|Q96RW5	Missense_Mutation	SNP	pfam_BIR,smart_BIR,smart_Znf_RING,pfscan_BIR,pfscan_Znf_RING	p.A198T	ENST00000426466.1	37	c.592	CCDS12863.1	19	.	.	.	.	.	.	.	.	.	.	C	6.835	0.523270	0.13066	.	.	ENSG00000163098	ENST00000426466	T	0.77877	-1.13	0.502	0.502	0.16932	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);	.	.	.	.	T	0.49983	0.1589	N	0.05554	-0.025	0.09310	N	1	P	0.41784	0.762	B	0.36719	0.231	T	0.41805	-0.9488	9	0.22109	T	0.4	-7.1867	3.6066	0.08045	0.4382:0.5617:1.0E-4:0.0	.	198	Q96P09	BIRC8_HUMAN	T	198	ENSP00000412957:A198T	ENSP00000412957:A198T	A	-	1	0	BIRC8	58484848	0.051000	0.20477	0.108000	0.21378	0.019000	0.09904	0.132000	0.15891	0.578000	0.29487	0.420000	0.28162	GCT	BIRC8	-	smart_Znf_RING,pfscan_Znf_RING		0.443	BIRC8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BIRC8	HGNC	protein_coding	OTTHUMT00000464357.1	C	NM_033341		53793036	-1	no_errors	ENST00000426466	ensembl	human	known	70_37	missense	SNP	0.003	T
BMP6	654	genome.wustl.edu	37	6	7727734	7727734	+	Silent	SNP	C	C	G			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr6:7727734C>G	ENST00000283147.6	+	1	705	c.546C>G	c.(544-546)ctC>ctG	p.L182L		NM_001718.4	NP_001709.1	P22004	BMP6_HUMAN	bone morphogenetic protein 6	182					BMP signaling pathway (GO:0030509)|cartilage development (GO:0051216)|cellular response to mechanical stimulus (GO:0071260)|endochondral ossification (GO:0001958)|eye development (GO:0001654)|growth (GO:0040007)|immune response (GO:0006955)|inflammatory response (GO:0006954)|kidney development (GO:0001822)|male genitalia development (GO:0030539)|osteoblast differentiation (GO:0001649)|positive regulation of aldosterone biosynthetic process (GO:0032349)|positive regulation of aldosterone secretion (GO:2000860)|positive regulation of bone mineralization (GO:0030501)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of DNA-dependent DNA replication (GO:2000105)|positive regulation of endothelial cell differentiation (GO:0045603)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of protein secretion (GO:0050714)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to activity (GO:0014823)|response to glucocorticoid (GO:0051384)|response to iron ion (GO:0010039)|response to magnesium ion (GO:0032026)|response to retinoic acid (GO:0032526)|skeletal system development (GO:0001501)|SMAD protein signal transduction (GO:0060395)|type B pancreatic cell development (GO:0003323)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|membrane-bounded vesicle (GO:0031988)	BMP receptor binding (GO:0070700)|protein heterodimerization activity (GO:0046982)			breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(6)|ovary(1)|prostate(1)	23	Ovarian(93;0.0721)					CGCACCCGCTCAACCGCAAGA	0.736																																																	0													7.0	9.0	8.0					6																	7727734		2072	4097	6169	SO:0001819	synonymous_variant	654			AF083030	CCDS4503.1	6p24-p23	2014-01-30	2003-10-06		ENSG00000153162	ENSG00000153162		"""Bone morphogenetic proteins"", ""Endogenous ligands"""	1073	protein-coding gene	gene with protein product		112266	"""vegetal related growth factor (TGFB-related)"""	VGR		1427904, 1453478	Standard	NM_001718		Approved	VGR1	uc003mxu.4	P22004	OTTHUMG00000014217	ENST00000283147.6:c.546C>G	6.37:g.7727734C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	Q5TCP3	Silent	SNP	pfam_TGF-b_N,pfam_TGF-b_C,smart_TGF-b_C	p.L182	ENST00000283147.6	37	c.546	CCDS4503.1	6																																																																																			BMP6	-	pfam_TGF-b_N		0.736	BMP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BMP6	HGNC	protein_coding	OTTHUMT00000039794.1	C	NM_001718		7727734	+1	no_errors	ENST00000283147	ensembl	human	known	70_37	silent	SNP	0.000	G
BMP6	654	genome.wustl.edu	37	6	7861760	7861760	+	Missense_Mutation	SNP	G	G	A			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr6:7861760G>A	ENST00000283147.6	+	3	1093	c.934G>A	c.(934-936)Gcc>Acc	p.A312T		NM_001718.4	NP_001709.1	P22004	BMP6_HUMAN	bone morphogenetic protein 6	312					BMP signaling pathway (GO:0030509)|cartilage development (GO:0051216)|cellular response to mechanical stimulus (GO:0071260)|endochondral ossification (GO:0001958)|eye development (GO:0001654)|growth (GO:0040007)|immune response (GO:0006955)|inflammatory response (GO:0006954)|kidney development (GO:0001822)|male genitalia development (GO:0030539)|osteoblast differentiation (GO:0001649)|positive regulation of aldosterone biosynthetic process (GO:0032349)|positive regulation of aldosterone secretion (GO:2000860)|positive regulation of bone mineralization (GO:0030501)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of DNA-dependent DNA replication (GO:2000105)|positive regulation of endothelial cell differentiation (GO:0045603)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of protein secretion (GO:0050714)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to activity (GO:0014823)|response to glucocorticoid (GO:0051384)|response to iron ion (GO:0010039)|response to magnesium ion (GO:0032026)|response to retinoic acid (GO:0032526)|skeletal system development (GO:0001501)|SMAD protein signal transduction (GO:0060395)|type B pancreatic cell development (GO:0003323)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|membrane-bounded vesicle (GO:0031988)	BMP receptor binding (GO:0070700)|protein heterodimerization activity (GO:0046982)			breast(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(6)|ovary(1)|prostate(1)	23	Ovarian(93;0.0721)					TGACATCACGGCCACTAGCAA	0.498																																																	0													137.0	135.0	136.0					6																	7861760		2203	4300	6503	SO:0001583	missense	654			AF083030	CCDS4503.1	6p24-p23	2014-01-30	2003-10-06		ENSG00000153162	ENSG00000153162		"""Bone morphogenetic proteins"", ""Endogenous ligands"""	1073	protein-coding gene	gene with protein product		112266	"""vegetal related growth factor (TGFB-related)"""	VGR		1427904, 1453478	Standard	NM_001718		Approved	VGR1	uc003mxu.4	P22004	OTTHUMG00000014217	ENST00000283147.6:c.934G>A	6.37:g.7861760G>A	ENSP00000283147:p.Ala312Thr	Somatic		WXS	Illumina HiSeq	Phase_IV	Q5TCP3	Missense_Mutation	SNP	pfam_TGF-b_N,pfam_TGF-b_C,smart_TGF-b_C	p.A312T	ENST00000283147.6	37	c.934	CCDS4503.1	6	.	.	.	.	.	.	.	.	.	.	G	33	5.255888	0.95336	.	.	ENSG00000153162	ENST00000537240;ENST00000283147;ENST00000540959	T	0.66099	-0.19	5.01	5.01	0.66863	Transforming growth factor-beta, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.58949	0.2158	L	0.60067	1.865	0.80722	D	1	P	0.46395	0.877	P	0.46885	0.53	T	0.63350	-0.6657	10	0.52906	T	0.07	.	18.5167	0.90937	0.0:0.0:1.0:0.0	.	312	P22004	BMP6_HUMAN	T	234;312;275	ENSP00000283147:A312T	ENSP00000283147:A312T	A	+	1	0	BMP6	7806759	1.000000	0.71417	0.989000	0.46669	0.990000	0.78478	9.428000	0.97476	2.595000	0.87683	0.655000	0.94253	GCC	BMP6	-	pfam_TGF-b_N		0.498	BMP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BMP6	HGNC	protein_coding	OTTHUMT00000039794.1	G	NM_001718		7861760	+1	no_errors	ENST00000283147	ensembl	human	known	70_37	missense	SNP	1.000	A
BOC	91653	genome.wustl.edu	37	3	113002407	113002407	+	Missense_Mutation	SNP	G	G	A	rs148702312	byFrequency	TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr3:113002407G>A	ENST00000495514.1	+	16	3285	c.2581G>A	c.(2581-2583)Gtc>Atc	p.V861I	BOC_ENST00000273395.4_Missense_Mutation_p.V862I|BOC_ENST00000355385.3_Missense_Mutation_p.V861I			Q9BWV1	BOC_HUMAN	BOC cell adhesion associated, oncogene regulated	861					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|muscle cell differentiation (GO:0042692)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of myoblast differentiation (GO:0045663)|smoothened signaling pathway (GO:0007224)	axonal growth cone (GO:0044295)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)		p.V861I(1)		NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	68			Epithelial(53;0.227)			TGTCGGGGTCGTCCTGGGCTC	0.612																																																	1	Substitution - Missense(1)	large_intestine(1)						G	ILE/VAL	1,4405	2.1+/-5.4	0,1,2202	124.0	117.0	119.0		2581	5.7	1.0	3	dbSNP_134	119	1,8599	1.2+/-3.3	0,1,4299	yes	missense	BOC	NM_033254.2	29	0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154	probably-damaging	861/1115	113002407	2,13004	2203	4300	6503	SO:0001583	missense	91653			AY027658	CCDS2971.1	3q13.2	2013-02-11	2012-12-07		ENSG00000144857	ENSG00000144857		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	17173	protein-coding gene	gene with protein product	"""brother of CDO"", ""brother of CDON"", ""cell adhesion associated, oncogene regulated 2"""	608708	"""Boc homolog (mouse)"""			11782431	Standard	NM_033254		Approved	CDON2	uc003dzy.3	Q9BWV1	OTTHUMG00000159305	ENST00000495514.1:c.2581G>A	3.37:g.113002407G>A	ENSP00000418663:p.Val861Ile	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NJ30|B2RMS8|D3DN70|Q6UXJ5|Q8N2P7|Q8NF26	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.V862I	ENST00000495514.1	37	c.2584	CCDS2971.1	3	.	.	.	.	.	.	.	.	.	.	G	33	5.229469	0.95173	2.27E-4	1.16E-4	ENSG00000144857	ENST00000495514;ENST00000273395;ENST00000355385	T;T;T	0.63255	-0.03;-0.02;-0.03	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	T	0.77103	0.4081	M	0.66939	2.045	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.996;0.999;0.997	T	0.71600	-0.4544	10	0.22109	T	0.4	.	18.0536	0.89357	0.0:0.0:1.0:0.0	.	678;862;861	Q9BWV1-2;Q9BWV1-3;Q9BWV1	.;.;BOC_HUMAN	I	861;862;861	ENSP00000418663:V861I;ENSP00000273395:V862I;ENSP00000347546:V861I	ENSP00000273395:V862I	V	+	1	0	BOC	114485097	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.102000	0.94226	2.699000	0.92147	0.563000	0.77884	GTC	BOC	-	NULL		0.612	BOC-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	BOC	HGNC	protein_coding	OTTHUMT00000354485.3	G	NM_033254		113002407	+1	no_errors	ENST00000273395	ensembl	human	known	70_37	missense	SNP	1.000	A
BOD1	91272	genome.wustl.edu	37	5	173035296	173035296	+	Splice_Site	SNP	C	C	T			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr5:173035296C>T	ENST00000311086.4	-	4	783		c.e4-1		BOD1_ENST00000285908.5_Splice_Site|BOD1_ENST00000471339.1_5'Flank|BOD1_ENST00000480951.1_Splice_Site	NM_138369.2	NP_612378.1	Q96IK1	BOD1_HUMAN	biorientation of chromosomes in cell division 1						mitotic nuclear division (GO:0007067)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|kinetochore (GO:0000776)				endometrium(1)|large_intestine(2)|lung(2)|ovary(2)	7						CTGGCGTATTCTAAAAAGGAA	0.313																																																	0													95.0	86.0	88.0					5																	173035296		1568	3582	5150	SO:0001630	splice_region_variant	91272			AY303777	CCDS4389.1, CCDS54951.1	5q35.2	2013-10-11	2009-03-04	2009-03-04	ENSG00000145919	ENSG00000145919			25114	protein-coding gene	gene with protein product	"""biorientation defective 1"""		"""family with sequence similarity 44, member B"""	FAM44B		17938248	Standard	NM_138369		Approved		uc003mcq.2	Q96IK1	OTTHUMG00000130540	ENST00000311086.4:c.556-1G>A	5.37:g.173035296C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B4DXH8|Q9BTW1	Splice_Site	SNP	-	e4-1	ENST00000311086.4	37	c.558-1	CCDS4389.1	5	.	.	.	.	.	.	.	.	.	.	C	7.979	0.750777	0.15778	.	.	ENSG00000145919	ENST00000285908;ENST00000480951	.	.	.	3.71	3.71	0.42584	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.2959	0.49277	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	BOD1	172967902	0.799000	0.28903	0.718000	0.30602	0.247000	0.25773	2.908000	0.48750	2.366000	0.80165	0.563000	0.77884	.	BOD1	-	-		0.313	BOD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BOD1	HGNC	protein_coding	OTTHUMT00000252963.1	C	NM_138369	Intron	173035296	-1	no_errors	ENST00000311086	ensembl	human	known	70_37	splice_site	SNP	0.841	T
BOD1L1	259282	genome.wustl.edu	37	4	13610966	13610966	+	Missense_Mutation	SNP	C	C	T			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr4:13610966C>T	ENST00000040738.5	-	7	1691	c.1556G>A	c.(1555-1557)cGa>cAa	p.R519Q		NM_148894.2	NP_683692.2	Q8NFC6	BD1L1_HUMAN	biorientation of chromosomes in cell division 1-like 1	519	Lys-rich.					nucleus (GO:0005634)	DNA binding (GO:0003677)										TTTCTGTTTTCGTTTTTCTTC	0.299																																																	0													122.0	110.0	114.0					4																	13610966		2198	4292	6490	SO:0001583	missense	259282			AF528529	CCDS3411.2	4p16.1	2012-04-10	2012-04-10	2012-04-10	ENSG00000038219	ENSG00000038219			31792	protein-coding gene	gene with protein product			"""family with sequence similarity 44, member A"", ""biorientation of chromosomes in cell division 1-like"""	FAM44A, BOD1L			Standard	XM_005248150		Approved	FLJ33215, KIAA1327	uc003gmz.1	Q8NFC6	OTTHUMG00000090659	ENST00000040738.5:c.1556G>A	4.37:g.13610966C>T	ENSP00000040738:p.Arg519Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	Q6P0M8|Q96AL1|Q9H6G0|Q9NTD6|Q9P2L9	Missense_Mutation	SNP	NULL	p.R519Q	ENST00000040738.5	37	c.1556	CCDS3411.2	4	.	.	.	.	.	.	.	.	.	.	C	23.5	4.424095	0.83667	.	.	ENSG00000038219	ENST00000040738	T	0.18502	2.21	5.58	5.58	0.84498	.	0.000000	0.34725	N	0.003727	T	0.37865	0.1019	L	0.60455	1.87	0.29098	N	0.881664	D	0.89917	1.0	D	0.80764	0.994	T	0.09596	-1.0667	10	0.30854	T	0.27	-0.3539	16.6447	0.85173	0.0:1.0:0.0:0.0	.	519	Q8NFC6	BOD1L_HUMAN	Q	519	ENSP00000040738:R519Q	ENSP00000040738:R519Q	R	-	2	0	BOD1L	13220064	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.405000	0.52630	2.785000	0.95823	0.655000	0.94253	CGA	BOD1L1	-	NULL		0.299	BOD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BOD1L1	HGNC	protein_coding	OTTHUMT00000207321.1	C	NM_148894		13610966	-1	no_errors	ENST00000040738	ensembl	human	known	70_37	missense	SNP	1.000	T
BOD1L1	259282	genome.wustl.edu	37	4	13616125	13616125	+	Missense_Mutation	SNP	A	A	C			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr4:13616125A>C	ENST00000040738.5	-	4	1004	c.869T>G	c.(868-870)aTt>aGt	p.I290S		NM_148894.2	NP_683692.2	Q8NFC6	BD1L1_HUMAN	biorientation of chromosomes in cell division 1-like 1	290						nucleus (GO:0005634)	DNA binding (GO:0003677)										GTAATTTTTAATTTCTTCGAC	0.383																																																	0													78.0	76.0	77.0					4																	13616125		2203	4300	6503	SO:0001583	missense	259282			AF528529	CCDS3411.2	4p16.1	2012-04-10	2012-04-10	2012-04-10	ENSG00000038219	ENSG00000038219			31792	protein-coding gene	gene with protein product			"""family with sequence similarity 44, member A"", ""biorientation of chromosomes in cell division 1-like"""	FAM44A, BOD1L			Standard	XM_005248150		Approved	FLJ33215, KIAA1327	uc003gmz.1	Q8NFC6	OTTHUMG00000090659	ENST00000040738.5:c.869T>G	4.37:g.13616125A>C	ENSP00000040738:p.Ile290Ser	Somatic		WXS	Illumina HiSeq	Phase_IV	Q6P0M8|Q96AL1|Q9H6G0|Q9NTD6|Q9P2L9	Missense_Mutation	SNP	NULL	p.I290S	ENST00000040738.5	37	c.869	CCDS3411.2	4	.	.	.	.	.	.	.	.	.	.	A	9.100	1.003881	0.19199	.	.	ENSG00000038219	ENST00000040738	T	0.07688	3.17	5.45	-0.234	0.13074	.	0.804611	0.10744	N	0.639085	T	0.04363	0.0120	L	0.27053	0.805	0.09310	N	1	B	0.26195	0.144	B	0.19148	0.024	T	0.46048	-0.9219	10	0.07813	T	0.8	-1.9405	5.2084	0.15302	0.497:0.2583:0.2448:0.0	.	290	Q8NFC6	BOD1L_HUMAN	S	290	ENSP00000040738:I290S	ENSP00000040738:I290S	I	-	2	0	BOD1L	13225223	0.368000	0.25031	0.797000	0.32132	0.410000	0.31052	1.327000	0.33746	-0.180000	0.10637	-0.326000	0.08463	ATT	BOD1L1	-	NULL		0.383	BOD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BOD1L1	HGNC	protein_coding	OTTHUMT00000207321.1	A	NM_148894		13616125	-1	no_errors	ENST00000040738	ensembl	human	known	70_37	missense	SNP	0.031	C
BOLL	66037	genome.wustl.edu	37	2	198621238	198621238	+	Missense_Mutation	SNP	C	C	T			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr2:198621238C>T	ENST00000392296.4	-	9	952	c.643G>A	c.(643-645)Gag>Aag	p.E215K	BOLL_ENST00000282278.8_Missense_Mutation_p.E106K|BOLL_ENST00000433157.1_Missense_Mutation_p.E215K|BOLL_ENST00000321801.7_Missense_Mutation_p.E227K|BOLL_ENST00000430004.1_Missense_Mutation_p.E237K|AC011997.1_ENST00000409845.1_Intron	NM_033030.5	NP_149019.1	Q8N9W6	BOLL_HUMAN	boule-like RNA-binding protein	215					cell differentiation (GO:0030154)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|positive regulation of translational initiation (GO:0045948)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)|translation activator activity (GO:0008494)			central_nervous_system(1)|endometrium(2)|lung(6)|ovary(3)|prostate(1)	13						TAAATAACCTCAGAAGGTTGC	0.378																																																	0													78.0	74.0	75.0					2																	198621238		2203	4300	6503	SO:0001583	missense	66037				CCDS2324.1, CCDS2325.1, CCDS63081.1	2q33	2013-10-17	2013-10-17		ENSG00000152430	ENSG00000152430		"""RNA binding motif (RRM) containing"""	14273	protein-coding gene	gene with protein product		606165	"""bol (Drosophila boule homolog)-like"", ""bol, boule-like (Drosophila)"""			11390979, 16001084	Standard	NM_197970		Approved	BOULE	uc002uut.2	Q8N9W6	OTTHUMG00000132747	ENST00000392296.4:c.643G>A	2.37:g.198621238C>T	ENSP00000376116:p.Glu215Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	B4DZA4|Q0JW32|Q53T62|Q969U3	Missense_Mutation	SNP	pfam_RRM_dom,pfam_RRM_3,smart_RRM_dom,pfscan_RRM_dom	p.E227K	ENST00000392296.4	37	c.679	CCDS2325.1	2	.	.	.	.	.	.	.	.	.	.	C	20.2	3.951624	0.73787	.	.	ENSG00000152430	ENST00000430004;ENST00000392296;ENST00000321801;ENST00000282278;ENST00000433157	T;T;T;T	0.30981	1.51;1.83;1.83;1.83	5.46	5.46	0.80206	.	0.110421	0.40640	N	0.001055	T	0.34745	0.0908	N	0.24115	0.695	0.39077	D	0.960834	D;P;P;B;P	0.55385	0.971;0.95;0.739;0.255;0.571	P;B;B;B;B	0.53062	0.717;0.375;0.359;0.104;0.21	T	0.24621	-1.0155	10	0.87932	D	0	-11.8326	16.2217	0.82262	0.0:1.0:0.0:0.0	.	106;243;227;215;221	B4DZA4;Q8N9W6-2;Q8N9W6-3;Q8N9W6;Q8N9W6-4	.;.;.;BOLL_HUMAN;.	K	237;215;227;106;215	ENSP00000397711:E237K;ENSP00000376116:E215K;ENSP00000314792:E227K;ENSP00000396099:E215K	ENSP00000282278:E106K	E	-	1	0	BOLL	198329483	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	4.725000	0.61979	2.577000	0.86979	0.557000	0.71058	GAG	BOLL	-	NULL		0.378	BOLL-001	KNOWN	basic|CCDS	protein_coding	BOLL	HGNC	protein_coding	OTTHUMT00000256107.3	C	NM_033030		198621238	-1	no_errors	ENST00000321801	ensembl	human	known	70_37	missense	SNP	1.000	T
BPI	671	genome.wustl.edu	37	20	36938980	36938980	+	Missense_Mutation	SNP	G	G	T			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr20:36938980G>T	ENST00000262865.4	+	4	563	c.474G>T	c.(472-474)aaG>aaT	p.K158N	CTD-2308N23.2_ENST00000437016.1_RNA	NM_001725.2	NP_001716.2	P17213	BPI_HUMAN	bactericidal/permeability-increasing protein	158					defense response to bacterium (GO:0042742)|immune response (GO:0006955)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of interleukin-8 production (GO:0032717)|negative regulation of macrophage activation (GO:0043031)|negative regulation of tumor necrosis factor production (GO:0032720)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	lipopolysaccharide binding (GO:0001530)			kidney(1)|large_intestine(6)|lung(15)|ovary(4)|prostate(2)|stomach(1)|urinary_tract(1)	30		Myeloproliferative disorder(115;0.00878)				CGTCAGGCAAGCCCACCATCA	0.537																																																	0													111.0	89.0	97.0					20																	36938980		2203	4300	6503	SO:0001583	missense	671			J04739	CCDS13303.1	20q11.23	2011-08-16			ENSG00000101425	ENSG00000101425		"""BPI fold containing"""	1095	protein-coding gene	gene with protein product	"""BPI fold containing family D, member 1"""	109195				8432532	Standard	NM_001725		Approved	BPIFD1	uc002xia.2	P17213	OTTHUMG00000032441	ENST00000262865.4:c.474G>T	20.37:g.36938980G>T	ENSP00000262865:p.Lys158Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RCY2|Q1ZZU8|Q5JRW0|Q8IW58|Q9BYZ9|Q9H1L2|Q9H1M8|Q9H203|Q9UCT4|Q9UD65	Missense_Mutation	SNP	pfam_Lipid-bd_serum_glycop_C,pfam_Lipid-bd_serum_glycop_N,superfamily_Bactericidal_perm-incr_a/b_dom,smart_Lipid-bd_serum_glycop_N,smart_Lipid-bd_serum_glycop_C	p.K158N	ENST00000262865.4	37	c.474	CCDS13303.1	20	.	.	.	.	.	.	.	.	.	.	G	12.56	1.973642	0.34848	.	.	ENSG00000101425	ENST00000262865	T	0.05996	3.36	3.54	-4.11	0.03928	Lipid-binding serum glycoprotein, N-terminal (2);Bactericidal permeability-increasing protein, alpha/beta domain (1);	1.378970	0.04477	N	0.377169	T	0.06325	0.0163	L	0.47716	1.5	0.09310	N	1	P	0.44241	0.829	B	0.42087	0.375	T	0.24012	-1.0172	10	0.72032	D	0.01	-0.8866	0.7877	0.01051	0.2562:0.3339:0.2194:0.1905	.	158	P17213	BPI_HUMAN	N	158	ENSP00000262865:K158N	ENSP00000262865:K158N	K	+	3	2	BPI	36372394	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.706000	0.05047	-0.813000	0.04357	-0.882000	0.02950	AAG	BPI	-	pfam_Lipid-bd_serum_glycop_N,superfamily_Bactericidal_perm-incr_a/b_dom,smart_Lipid-bd_serum_glycop_N		0.537	BPI-002	KNOWN	basic|appris_principal|CCDS	protein_coding	BPI	HGNC	protein_coding	OTTHUMT00000079157.2	G	NM_001725		36938980	+1	no_errors	ENST00000262865	ensembl	human	known	70_37	missense	SNP	0.000	T
BRAP	8315	genome.wustl.edu	37	12	112103478	112103478	+	Missense_Mutation	SNP	G	G	T			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr12:112103478G>T	ENST00000327551.6	-	6	911	c.771C>A	c.(769-771)ttC>ttA	p.F257L	BRAP_ENST00000419234.4_Missense_Mutation_p.F287L|BRAP_ENST00000539060.1_Missense_Mutation_p.F108L			Q6UWU4	CF089_HUMAN	BRCA1 associated protein	0					epithelial cell proliferation (GO:0050673)|positive regulation of cell cycle (GO:0045787)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	20						ACTGGCTGTGGAAGCTGTGGT	0.542																																					Pancreas(146;846 1904 7830 25130 26065)												0													132.0	90.0	104.0					12																	112103478		2203	4300	6503	SO:0001583	missense	8315			AF035620	CCDS9154.1	12q24.12	2014-09-11			ENSG00000089234	ENSG00000089234		"""RING-type (C3HC4) zinc fingers"""	1099	protein-coding gene	gene with protein product	"""impedes mitogenic signal propagation"", ""galectin-2-binding protein"""	604986				9497340, 19198608	Standard	XM_005253944		Approved	BRAP2, RNF52, IMP	uc001tsn.4	Q7Z569	OTTHUMG00000169600	ENST00000327551.6:c.771C>A	12.37:g.112103478G>T	ENSP00000330813:p.Phe257Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	B4DTT1|F4NAR0|F4NAR1|Q6ZMG5|Q7Z356|Q8IZ35	Missense_Mutation	SNP	pfam_BRAP2,pfam_Znf_UBP,pfam_Znf_C3HC4_RING-type,superfamily_Znf_FYVE_PHD,smart_Znf_RING,smart_Znf_UBP,pfscan_Znf_RING,pfscan_Znf_UBP	p.F287L	ENST00000327551.6	37	c.861		12	.	.	.	.	.	.	.	.	.	.	G	21.3	4.129249	0.77549	.	.	ENSG00000089234	ENST00000419234;ENST00000539060;ENST00000327551;ENST00000547043	T;T;T	0.61274	0.12;0.12;0.12	5.22	1.96	0.26148	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);Zinc finger, C3HC4 RING-type (1);	0.000000	0.85682	D	0.000000	T	0.74137	0.3677	M	0.85710	2.77	0.80722	D	1	D;D	0.76494	0.963;0.999	D;D	0.83275	0.95;0.996	T	0.74402	-0.3677	10	0.62326	D	0.03	-13.8589	8.8854	0.35400	0.4346:0.0:0.5654:0.0	.	108;287	B4DRM1;Q7Z569	.;BRAP_HUMAN	L	287;108;257;69	ENSP00000403524:F287L;ENSP00000441659:F108L;ENSP00000330813:F257L	ENSP00000330813:F257L	F	-	3	2	BRAP	110587861	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	0.804000	0.27098	0.591000	0.29711	0.305000	0.20034	TTC	BRAP	-	pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING		0.542	BRAP-002	PUTATIVE	basic|exp_conf	protein_coding	BRAP	HGNC	protein_coding	OTTHUMT00000404994.2	G			112103478	-1	no_errors	ENST00000419234	ensembl	human	known	70_37	missense	SNP	0.999	T
BRAP	8315	genome.wustl.edu	37	12	112103588	112103588	+	Missense_Mutation	SNP	C	C	T			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr12:112103588C>T	ENST00000327551.6	-	6	801	c.661G>A	c.(661-663)Gcc>Acc	p.A221T	BRAP_ENST00000419234.4_Missense_Mutation_p.A251T|BRAP_ENST00000539060.1_Missense_Mutation_p.A72T			Q6UWU4	CF089_HUMAN	BRCA1 associated protein	0					epithelial cell proliferation (GO:0050673)|positive regulation of cell cycle (GO:0045787)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|prostate(2)|skin(1)|stomach(1)|urinary_tract(1)	20						GGGAGGCTGGCGCCCTACAGG	0.502																																					Pancreas(146;846 1904 7830 25130 26065)												0													109.0	80.0	90.0					12																	112103588		2203	4300	6503	SO:0001583	missense	8315			AF035620	CCDS9154.1	12q24.12	2014-09-11			ENSG00000089234	ENSG00000089234		"""RING-type (C3HC4) zinc fingers"""	1099	protein-coding gene	gene with protein product	"""impedes mitogenic signal propagation"", ""galectin-2-binding protein"""	604986				9497340, 19198608	Standard	XM_005253944		Approved	BRAP2, RNF52, IMP	uc001tsn.4	Q7Z569	OTTHUMG00000169600	ENST00000327551.6:c.661G>A	12.37:g.112103588C>T	ENSP00000330813:p.Ala221Thr	Somatic		WXS	Illumina HiSeq	Phase_IV	B4DTT1|F4NAR0|F4NAR1|Q6ZMG5|Q7Z356|Q8IZ35	Missense_Mutation	SNP	pfam_BRAP2,pfam_Znf_UBP,pfam_Znf_C3HC4_RING-type,superfamily_Znf_FYVE_PHD,smart_Znf_RING,smart_Znf_UBP,pfscan_Znf_RING,pfscan_Znf_UBP	p.A251T	ENST00000327551.6	37	c.751		12	.	.	.	.	.	.	.	.	.	.	C	22.2	4.261981	0.80358	.	.	ENSG00000089234	ENST00000419234;ENST00000539060;ENST00000327551;ENST00000547043	T;T;T	0.48201	0.82;0.84;0.83	5.22	5.22	0.72569	BRCA1-associated 2 (1);	0.000000	0.85682	D	0.000000	T	0.69324	0.3098	M	0.77103	2.36	0.80722	D	1	D;D	0.76494	0.999;0.998	D;D	0.77004	0.989;0.926	T	0.66563	-0.5892	10	0.25751	T	0.34	-13.0857	18.7631	0.91860	0.0:1.0:0.0:0.0	.	72;251	B4DRM1;Q7Z569	.;BRAP_HUMAN	T	251;72;221;33	ENSP00000403524:A251T;ENSP00000441659:A72T;ENSP00000330813:A221T	ENSP00000330813:A221T	A	-	1	0	BRAP	110587971	1.000000	0.71417	0.996000	0.52242	0.865000	0.49528	7.332000	0.79203	2.431000	0.82371	0.305000	0.20034	GCC	BRAP	-	pfam_BRAP2		0.502	BRAP-002	PUTATIVE	basic|exp_conf	protein_coding	BRAP	HGNC	protein_coding	OTTHUMT00000404994.2	C			112103588	-1	no_errors	ENST00000419234	ensembl	human	known	70_37	missense	SNP	1.000	T
BRCA2	675	genome.wustl.edu	37	13	32937456	32937456	+	Missense_Mutation	SNP	A	A	G	rs80359055	byFrequency	TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr13:32937456A>G	ENST00000380152.3	+	18	8350	c.8117A>G	c.(8116-8118)aAt>aGt	p.N2706S	BRCA2_ENST00000544455.1_Missense_Mutation_p.N2706S			P51587	BRCA2_HUMAN	breast cancer 2, early onset	2706			N -> S. {ECO:0000269|PubMed:12442273}.		brain development (GO:0007420)|cell aging (GO:0007569)|centrosome duplication (GO:0051298)|cytokinesis (GO:0000910)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|female gonad development (GO:0008585)|hemopoiesis (GO:0030097)|histone H3 acetylation (GO:0043966)|histone H4 acetylation (GO:0043967)|inner cell mass cell proliferation (GO:0001833)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|male meiosis I (GO:0007141)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|nucleotide-excision repair (GO:0006289)|oocyte maturation (GO:0001556)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cytokinesis (GO:0032465)|replication fork protection (GO:0048478)|response to gamma radiation (GO:0010332)|response to UV-C (GO:0010225)|response to X-ray (GO:0010165)|spermatogenesis (GO:0007283)	BRCA2-MAGE-D1 complex (GO:0033593)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)|secretory granule (GO:0030141)	gamma-tubulin binding (GO:0043015)|H3 histone acetyltransferase activity (GO:0010484)|H4 histone acetyltransferase activity (GO:0010485)|protease binding (GO:0002020)|single-stranded DNA binding (GO:0003697)			NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		ACTTCTAGCAATAAAACTAGT	0.393			"""D, Mis, N, F, S"""		"""breast, ovarian, pancreatic"""	"""breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"""		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)			A|||	4	0.000798722	0.0	0.0	5008	,	,		17830	0.0		0.0	False		,,,				2504	0.0041				Esophageal Squamous(138;838 1285 7957 30353 30468 36915 49332)		yes	Rec	yes	Hereditary breast/ovarian cancer	13	13q12	675	familial breast/ovarian cancer gene 2		"""L, E"""	0			GRCh37	CM023610	BRCA2	M	rs80359055						119.0	117.0	118.0					13																	32937456		2203	4300	6503	SO:0001583	missense	675	Familial Cancer Database	incl.: Hereditary Pancreatic Adenocarcinoma, Insulin-Dependent Diabetes Mellitus - Exocrine Insufficiency - Familial Pancreatic Cancer, PNCA1;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;HPC; ;FANCD1;Pancytopenia Dysmelia, FA (several complementation groups)	U43746	CCDS9344.1	13q12-q13	2014-09-17	2003-10-14		ENSG00000139618	ENSG00000139618		"""Fanconi anemia, complementation groups"""	1101	protein-coding gene	gene with protein product	"""BRCA1/BRCA2-containing complex, subunit 2"""	600185	"""Fanconi anemia, complementation group D1"""	FANCD1, FACD, FANCD		8091231, 7581463, 15057823	Standard	NM_000059		Approved	FAD, FAD1, BRCC2	uc001uub.1	P51587	OTTHUMG00000017411	ENST00000380152.3:c.8117A>G	13.37:g.32937456A>G	ENSP00000369497:p.Asn2706Ser	Somatic		WXS	Illumina HiSeq	Phase_IV	O00183|O15008|Q13879|Q5TBJ7	Missense_Mutation	SNP	pfam_DNA_recomb/repair_BRCA2_hlx,pfam_BRCA2_repeat,pfam_BRCA2_OB_3,pfam_BRCA2_OB_1,pfam_Tower,superfamily_DNA_recomb/repair_BRCA2_hlx,superfamily_NA-bd_OB-fold-like,pirsf_BRCA2,pfscan_BRCA2_repeat	p.N2706S	ENST00000380152.3	37	c.8117	CCDS9344.1	13	.	.	.	.	.	.	.	.	.	.	A	0.013	-1.615453	0.00828	.	.	ENSG00000139618	ENST00000380152;ENST00000544455	T;T	0.80123	-1.34;-1.34	5.38	0.627	0.17675	Nucleic acid-binding, OB-fold-like (1);BRCA2, oligonucleotide/oligosaccharide-binding 1 (1);	0.560801	0.21303	N	0.076766	T	0.52853	0.1760	N	0.03608	-0.345	0.09310	N	1	B	0.13145	0.007	B	0.12837	0.008	T	0.40040	-0.9584	10	0.09084	T	0.74	.	8.7839	0.34809	0.664:0.0:0.336:0.0	.	2706	P51587	BRCA2_HUMAN	S	2706	ENSP00000369497:N2706S;ENSP00000439902:N2706S	ENSP00000369497:N2706S	N	+	2	0	BRCA2	31835456	0.656000	0.27385	0.043000	0.18650	0.306000	0.27790	1.126000	0.31344	0.009000	0.14813	-0.456000	0.05471	AAT	BRCA2	-	pfam_BRCA2_OB_1,superfamily_NA-bd_OB-fold-like,pirsf_BRCA2		0.393	BRCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BRCA2	HGNC	protein_coding	OTTHUMT00000046000.2	A	NM_000059		32937456	+1	no_errors	ENST00000380152	ensembl	human	known	70_37	missense	SNP	0.027	G
BRD4	23476	genome.wustl.edu	37	19	15349885	15349885	+	Missense_Mutation	SNP	C	C	T			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr19:15349885C>T	ENST00000263377.2	-	18	3988	c.3767G>A	c.(3766-3768)cGg>cAg	p.R1256Q		NM_058243.2	NP_490597.1	O60885	BRD4_HUMAN	bromodomain containing 4	1256	C-terminal (CTD) region.				cellular response to DNA damage stimulus (GO:0006974)|chromatin remodeling (GO:0006338)|chromosome segregation (GO:0007059)|histone H3-K14 acetylation (GO:0044154)|histone H4-K12 acetylation (GO:0043983)|inner cell mass cell proliferation (GO:0001833)|negative regulation of DNA damage checkpoint (GO:2000002)|positive regulation of DNA binding (GO:0043388)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|regulation of inflammatory response (GO:0050727)|regulation of phosphorylation of RNA polymerase II C-terminal domain (GO:1901407)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromosome (GO:0005694)|condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|positive transcription elongation factor complex b (GO:0008024)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(7)|ovary(2)|urinary_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(3;3.02e-24)|Epithelial(3;4.71e-20)|all cancers(3;2.26e-18)			GCGCTCCTGCCGCAGCCGCTC	0.682			T	C15orf55	lethal midline carcinoma of young people																																			Dom	yes		19	19p13.1	23476	bromodomain containing 4		E	0													13.0	17.0	16.0					19																	15349885		2194	4286	6480	SO:0001583	missense	23476			Y12059	CCDS12328.1, CCDS46004.1	19p13.12	2013-09-20	2002-01-14		ENSG00000141867	ENSG00000141867			13575	protein-coding gene	gene with protein product	"""chromosome-associated protein"""	608749	"""bromodomain-containing 4"""			10938129	Standard	NM_058243		Approved	HUNKI, MCAP, CAP, HUNK1	uc002nar.3	O60885	OTTHUMG00000183252	ENST00000263377.2:c.3767G>A	19.37:g.15349885C>T	ENSP00000263377:p.Arg1256Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	O60433|Q4G0X8|Q86YS8|Q96PD3	Missense_Mutation	SNP	pfam_Bromodomain,superfamily_Bromodomain,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain	p.R1256Q	ENST00000263377.2	37	c.3767	CCDS12328.1	19	.	.	.	.	.	.	.	.	.	.	c	14.48	2.547261	0.45383	.	.	ENSG00000141867	ENST00000263377	T	0.18502	2.21	4.87	4.87	0.63330	.	0.000000	0.48286	D	0.000184	T	0.11410	0.0278	L	0.36672	1.1	0.80722	D	1	D	0.53619	0.961	B	0.35114	0.196	T	0.04664	-1.0935	10	0.44086	T	0.13	-27.9636	10.4958	0.44777	0.0:0.9089:0.0:0.0911	.	1256	O60885	BRD4_HUMAN	Q	1256	ENSP00000263377:R1256Q	ENSP00000263377:R1256Q	R	-	2	0	BRD4	15210885	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	4.356000	0.59430	2.233000	0.73108	0.550000	0.68814	CGG	BRD4	-	NULL		0.682	BRD4-001	KNOWN	overlapping_uORF|basic|appris_candidate_longest|CCDS	protein_coding	BRD4	HGNC	protein_coding	OTTHUMT00000465800.3	C	NM_058243		15349885	-1	no_errors	ENST00000263377	ensembl	human	known	70_37	missense	SNP	1.000	T
BROX	148362	genome.wustl.edu	37	1	222903491	222903491	+	Missense_Mutation	SNP	G	G	C			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr1:222903491G>C	ENST00000340934.5	+	11	1367	c.961G>C	c.(961-963)Gaa>Caa	p.E321Q	BROX_ENST00000537020.1_Missense_Mutation_p.E321Q|BROX_ENST00000539697.1_Missense_Mutation_p.E289Q	NM_144695.2	NP_653296.2	Q5VW32	BROX_HUMAN	BRO1 domain and CAAX motif containing	321	BRO1. {ECO:0000255|PROSITE- ProRule:PRU00526}.					extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|stomach(1)	14						GAACACCCTAGAAAAATGTCA	0.299																																																	0													67.0	66.0	66.0					1																	222903491		2203	4299	6502	SO:0001583	missense	148362				CCDS1534.1, CCDS73036.1, CCDS73037.1	1q41	2010-11-30	2010-11-30	2010-11-30	ENSG00000162819	ENSG00000162819			26512	protein-coding gene	gene with protein product	"""BRO1 domain containing protein"""		"""chromosome 1 open reading frame 58"""	C1orf58		18190528	Standard	XM_005273065		Approved	FLJ32421	uc001hnq.1	Q5VW32	OTTHUMG00000037650	ENST00000340934.5:c.961G>C	1.37:g.222903491G>C	ENSP00000343742:p.Glu321Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	B7Z9G5|Q96MG1	Missense_Mutation	SNP	pfam_BRO1_dom,pfscan_BRO1_dom	p.E321Q	ENST00000340934.5	37	c.961	CCDS1534.1	1	.	.	.	.	.	.	.	.	.	.	g	16.00	2.997863	0.54147	.	.	ENSG00000162819	ENST00000340934;ENST00000537020;ENST00000539697	T;T;T	0.19394	2.15;2.15;2.15	6.01	5.09	0.68999	BRO1 domain (3);	0.089937	0.85682	D	0.000000	T	0.19604	0.0471	L	0.35854	1.095	0.80722	D	1	B;B;B	0.18863	0.025;0.031;0.009	B;B;B	0.19148	0.009;0.024;0.01	T	0.02179	-1.1200	10	0.29301	T	0.29	0.8027	16.6787	0.85286	0.0:0.0:0.8692:0.1308	.	321;289;321	F5GXQ0;B7Z9G5;Q5VW32	.;.;BROX_HUMAN	Q	321;321;289	ENSP00000343742:E321Q;ENSP00000440041:E321Q;ENSP00000441080:E289Q	ENSP00000343742:E321Q	E	+	1	0	BROX	220970114	1.000000	0.71417	0.845000	0.33349	0.872000	0.50106	9.466000	0.97665	1.537000	0.49254	-0.188000	0.12872	GAA	BROX	-	pfam_BRO1_dom,pfscan_BRO1_dom		0.299	BROX-001	NOVEL	basic|appris_principal|CCDS	protein_coding	BROX	HGNC	protein_coding	OTTHUMT00000091815.2	G	NM_144695		222903491	+1	no_errors	ENST00000340934	ensembl	human	known	70_37	missense	SNP	0.999	C
BRPF3	27154	genome.wustl.edu	37	6	36172556	36172556	+	Missense_Mutation	SNP	C	C	A			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr6:36172556C>A	ENST00000357641.6	+	3	1823	c.1570C>A	c.(1570-1572)Cac>Aac	p.H524N	BRPF3_ENST00000534694.1_Missense_Mutation_p.H524N|BRPF3_ENST00000543502.1_Missense_Mutation_p.H524N|BRPF3_ENST00000534400.1_Missense_Mutation_p.H524N|BRPF3_ENST00000443324.2_Missense_Mutation_p.H524N|BRPF3_ENST00000339717.7_Missense_Mutation_p.H524N	NM_015695.2	NP_056510.2	Q9ULD4	BRPF3_HUMAN	bromodomain and PHD finger containing, 3	524					blood coagulation (GO:0007596)|histone H3 acetylation (GO:0043966)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	cytosol (GO:0005829)|extracellular region (GO:0005576)|MOZ/MORF histone acetyltransferase complex (GO:0070776)	zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(8)|lung(15)|ovary(1)|prostate(1)|skin(4)|urinary_tract(2)	40						CCGGCGCTTGCACTCCCATCT	0.517																																																	0													114.0	106.0	109.0					6																	36172556		2203	4300	6503	SO:0001583	missense	27154			AB033112	CCDS34437.1	6p21.31	2008-02-05			ENSG00000096070	ENSG00000096070			14256	protein-coding gene	gene with protein product						10574462	Standard	NM_015695		Approved	KIAA1286	uc003olv.4	Q9ULD4	OTTHUMG00000014589	ENST00000357641.6:c.1570C>A	6.37:g.36172556C>A	ENSP00000350267:p.His524Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	A6ND56|A6NJE2|B7ZLN5|E7EX85|Q17RB6|Q5R3K8	Missense_Mutation	SNP	pfam_Enhancer_polycomb-like_N,pfam_Bromodomain,pfam_PWWP,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_Bromodomain,smart_PWWP,pfscan_PWWP,pfscan_Znf_PHD-finger,pfscan_Bromodomain,prints_Bromodomain	p.H524N	ENST00000357641.6	37	c.1570	CCDS34437.1	6	.	.	.	.	.	.	.	.	.	.	C	18.62	3.663463	0.67700	.	.	ENSG00000096070	ENST00000357641;ENST00000339717;ENST00000534694;ENST00000543502;ENST00000443324;ENST00000534400;ENST00000527657	T;T;T;T;T;T	0.16743	2.51;2.47;2.47;2.47;2.47;2.32	5.43	5.43	0.79202	.	0.000000	0.85682	D	0.000000	T	0.23249	0.0562	L	0.61036	1.89	0.80722	D	1	P;P;D	0.57257	0.948;0.948;0.979	P;P;P	0.51777	0.588;0.588;0.679	T	0.00967	-1.1497	10	0.54805	T	0.06	.	19.248	0.93909	0.0:1.0:0.0:0.0	.	524;524;524	B7ZLN5;Q17RB6;Q9ULD4	.;.;BRPF3_HUMAN	N	524;524;524;524;524;524;70	ENSP00000350267:H524N;ENSP00000345419:H524N;ENSP00000434501:H524N;ENSP00000445352:H524N;ENSP00000387368:H524N;ENSP00000436504:H524N	ENSP00000345419:H524N	H	+	1	0	BRPF3	36280534	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.770000	0.85390	2.541000	0.85698	0.557000	0.71058	CAC	BRPF3	-	NULL		0.517	BRPF3-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	BRPF3	HGNC	protein_coding	OTTHUMT00000040335.3	C	NM_015695		36172556	+1	no_errors	ENST00000357641	ensembl	human	known	70_37	missense	SNP	1.000	A
BSN	8927	genome.wustl.edu	37	3	49699404	49699404	+	Missense_Mutation	SNP	G	G	C			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr3:49699404G>C	ENST00000296452.4	+	6	10240	c.10126G>C	c.(10126-10128)Gaa>Caa	p.E3376Q		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	3376					synaptic transmission (GO:0007268)	axon (GO:0030424)|cell junction (GO:0030054)|dendrite (GO:0030425)|neuron projection terminus (GO:0044306)|nucleus (GO:0005634)|presynaptic cytoskeletal matrix assembled at active zones (GO:0048788)	metal ion binding (GO:0046872)			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		CTCGCCTATTGAAGAGGCCAA	0.577																																																	0													69.0	74.0	73.0					3																	49699404		2203	4300	6503	SO:0001583	missense	8927			AF052224	CCDS2800.1	3p21	2013-01-07	2013-01-07		ENSG00000164061	ENSG00000164061			1117	protein-coding gene	gene with protein product	"""zinc finger protein 231"", ""neuronal double zinc finger protein"""	604020	"""bassoon (presynaptic cytomatrix protein)"""	ZNF231		9806829, 10329005	Standard	NM_003458		Approved		uc003cxe.4	Q9UPA5	OTTHUMG00000133750	ENST00000296452.4:c.10126G>C	3.37:g.49699404G>C	ENSP00000296452:p.Glu3376Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	O43161|Q7LGH3	Missense_Mutation	SNP	pfam_Znf_piccolo,superfamily_Znf_FYVE_PHD	p.E3376Q	ENST00000296452.4	37	c.10126	CCDS2800.1	3	.	.	.	.	.	.	.	.	.	.	G	13.37	2.215453	0.39102	.	.	ENSG00000164061	ENST00000296452	T	0.19532	2.14	5.49	5.49	0.81192	.	0.000000	0.85682	D	0.000000	T	0.32133	0.0819	N	0.17872	0.535	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.06534	-1.0821	10	0.20046	T	0.44	-12.3537	18.9713	0.92716	0.0:0.0:1.0:0.0	.	3376	Q9UPA5	BSN_HUMAN	Q	3376	ENSP00000296452:E3376Q	ENSP00000296452:E3376Q	E	+	1	0	BSN	49674408	1.000000	0.71417	0.938000	0.37757	0.931000	0.56810	9.869000	0.99810	2.574000	0.86865	0.561000	0.74099	GAA	BSN	-	NULL		0.577	BSN-001	KNOWN	NMD_exception|basic|appris_principal|exp_conf|CCDS	protein_coding	BSN	HGNC	protein_coding	OTTHUMT00000258164.1	G	NM_003458		49699404	+1	no_errors	ENST00000296452	ensembl	human	known	70_37	missense	SNP	1.000	C
BUB1	699	genome.wustl.edu	37	2	111415990	111415990	+	Missense_Mutation	SNP	G	G	C			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr2:111415990G>C	ENST00000302759.6	-	13	1631	c.1513C>G	c.(1513-1515)Caa>Gaa	p.Q505E	BUB1_ENST00000409311.1_Missense_Mutation_p.Q505E|BUB1_ENST00000535254.1_Missense_Mutation_p.Q485E	NM_004336.3	NP_004327.1	O43683	BUB1_HUMAN	BUB1 mitotic checkpoint serine/threonine kinase	505					apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|chromosome segregation (GO:0007059)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|regulation of chromosome segregation (GO:0051983)|regulation of sister chromatid cohesion (GO:0007063)|spindle assembly checkpoint (GO:0071173)|viral process (GO:0016032)	condensed chromosome kinetochore (GO:0000777)|condensed nuclear chromosome, centromeric region (GO:0000780)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(3)|endometrium(8)|kidney(4)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|stomach(1)	45		Ovarian(717;0.0822)		BRCA - Breast invasive adenocarcinoma(221;0.0556)		TTATTACTTTGAAACTGGGCT	0.343																																																	0													72.0	69.0	70.0					2																	111415990		2203	4300	6503	SO:0001583	missense	699			AF046078	CCDS33273.1, CCDS62984.1, CCDS62985.1	2q13	2013-01-17	2013-01-17		ENSG00000169679	ENSG00000169679			1148	protein-coding gene	gene with protein product		602452	"""budding uninhibited by benzimidazoles 1 (yeast homolog)"", ""budding uninhibited by benzimidazoles 1 homolog (yeast)"""	BUB1L			Standard	NM_004336		Approved	hBUB1, BUB1A	uc002tgc.3	O43683	OTTHUMG00000153638	ENST00000302759.6:c.1513C>G	2.37:g.111415990G>C	ENSP00000302530:p.Gln505Glu	Somatic		WXS	Illumina HiSeq	Phase_IV	E9PC26|F5GXI5|O43430|O43643|O60626|Q53QE4	Missense_Mutation	SNP	pfam_Mad3_BUB1_I,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Mad3_BUB1_I,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_cat_dom	p.Q505E	ENST00000302759.6	37	c.1513	CCDS33273.1	2	.	.	.	.	.	.	.	.	.	.	G	10.30	1.311333	0.23821	.	.	ENSG00000169679	ENST00000535254;ENST00000409311;ENST00000302759;ENST00000541432	T;T;T	0.28666	2.32;1.6;2.59	6.07	5.14	0.70334	.	0.400623	0.27402	N	0.019531	T	0.18841	0.0452	L	0.54323	1.7	0.27984	N	0.935919	P;P;P	0.49961	0.792;0.93;0.731	B;B;B	0.36134	0.194;0.218;0.13	T	0.29701	-1.0003	10	0.02654	T	1	.	7.2191	0.25977	0.0827:0.0:0.7474:0.1698	.	485;505;505	F5GXI5;E9PC26;O43683	.;.;BUB1_HUMAN	E	485;505;505;505	ENSP00000441013:Q485E;ENSP00000386701:Q505E;ENSP00000302530:Q505E	ENSP00000302530:Q505E	Q	-	1	0	BUB1	111132463	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.556000	0.45862	2.890000	0.99128	0.650000	0.86243	CAA	BUB1	-	NULL		0.343	BUB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BUB1	HGNC	protein_coding	OTTHUMT00000331925.1	G	NM_004336		111415990	-1	no_errors	ENST00000302759	ensembl	human	known	70_37	missense	SNP	1.000	C
BUB1	699	genome.wustl.edu	37	2	111431774	111431774	+	Missense_Mutation	SNP	A	A	C			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr2:111431774A>C	ENST00000302759.6	-	3	232	c.114T>G	c.(112-114)ttT>ttG	p.F38L	BUB1_ENST00000409311.1_Missense_Mutation_p.F38L|BUB1_ENST00000535254.1_Missense_Mutation_p.F18L	NM_004336.3	NP_004327.1	O43683	BUB1_HUMAN	BUB1 mitotic checkpoint serine/threonine kinase	38	BUB1 N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00822}.|Necessary for kinetochore localization.				apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|chromosome segregation (GO:0007059)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|regulation of chromosome segregation (GO:0051983)|regulation of sister chromatid cohesion (GO:0007063)|spindle assembly checkpoint (GO:0071173)|viral process (GO:0016032)	condensed chromosome kinetochore (GO:0000777)|condensed nuclear chromosome, centromeric region (GO:0000780)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(3)|endometrium(8)|kidney(4)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|stomach(1)	45		Ovarian(717;0.0822)		BRCA - Breast invasive adenocarcinoma(221;0.0556)		TATTCTCAGGAAAATTCTCTT	0.284																																																	0													64.0	67.0	66.0					2																	111431774		2196	4297	6493	SO:0001583	missense	699			AF046078	CCDS33273.1, CCDS62984.1, CCDS62985.1	2q13	2013-01-17	2013-01-17		ENSG00000169679	ENSG00000169679			1148	protein-coding gene	gene with protein product		602452	"""budding uninhibited by benzimidazoles 1 (yeast homolog)"", ""budding uninhibited by benzimidazoles 1 homolog (yeast)"""	BUB1L			Standard	NM_004336		Approved	hBUB1, BUB1A	uc002tgc.3	O43683	OTTHUMG00000153638	ENST00000302759.6:c.114T>G	2.37:g.111431774A>C	ENSP00000302530:p.Phe38Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	E9PC26|F5GXI5|O43430|O43643|O60626|Q53QE4	Missense_Mutation	SNP	pfam_Mad3_BUB1_I,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Mad3_BUB1_I,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_cat_dom	p.F38L	ENST00000302759.6	37	c.114	CCDS33273.1	2	.	.	.	.	.	.	.	.	.	.	A	13.86	2.363259	0.41902	.	.	ENSG00000169679	ENST00000535254;ENST00000409311;ENST00000302759;ENST00000541432;ENST00000447014;ENST00000420328;ENST00000436916	T;T;T;T;T;T	0.62232	0.04;0.04;0.04;0.04;0.04;0.04	5.43	4.27	0.50696	Mad3/BUB1 homology region 1 (3);	0.123243	0.56097	D	0.000039	T	0.51941	0.1704	L	0.45698	1.435	0.29831	N	0.83	P;B;P	0.36683	0.503;0.301;0.565	B;B;B	0.39027	0.173;0.106;0.288	T	0.49322	-0.8952	10	0.23891	T	0.37	-20.4985	6.908	0.24319	0.8205:0.0:0.1795:0.0	.	18;38;38	F5GXI5;E9PC26;O43683	.;.;BUB1_HUMAN	L	18;38;38;38;29;29;29	ENSP00000441013:F18L;ENSP00000386701:F38L;ENSP00000302530:F38L;ENSP00000402883:F29L;ENSP00000409713:F29L;ENSP00000392219:F29L	ENSP00000302530:F38L	F	-	3	2	BUB1	111148245	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	1.847000	0.39299	0.906000	0.36621	0.454000	0.30748	TTT	BUB1	-	pfam_Mad3_BUB1_I,smart_Mad3_BUB1_I		0.284	BUB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BUB1	HGNC	protein_coding	OTTHUMT00000331925.1	A	NM_004336		111431774	-1	no_errors	ENST00000302759	ensembl	human	known	70_37	missense	SNP	1.000	C
BUD13	84811	genome.wustl.edu	37	11	116628986	116628986	+	Splice_Site	SNP	C	C	A			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr11:116628986C>A	ENST00000260210.4	-	7	1521	c.1498G>T	c.(1498-1500)Ggg>Tgg	p.G500W	BUD13_ENST00000375445.3_Splice_Site_p.G366W	NM_032725.3	NP_116114.1	Q9BRD0	BUD13_HUMAN	BUD13 homolog (S. cerevisiae)	500					mRNA export from nucleus (GO:0006406)|mRNA splicing, via spliceosome (GO:0000398)	nucleus (GO:0005634)|RES complex (GO:0070274)	poly(A) RNA binding (GO:0044822)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|pancreas(2)|skin(1)|urinary_tract(1)	22	all_hematologic(175;0.0487)	all_cancers(61;1.72e-06)|all_epithelial(67;0.000735)|Melanoma(852;0.022)|Acute lymphoblastic leukemia(157;0.0255)|Medulloblastoma(222;0.0523)|Breast(348;0.056)|all_hematologic(158;0.0588)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|Epithelial(105;5.81e-06)|all cancers(92;0.000144)|OV - Ovarian serous cystadenocarcinoma(223;0.154)		TTCCCTTACCCTTTTCCCCAC	0.453																																																	0													244.0	220.0	228.0					11																	116628986		2201	4296	6497	SO:0001630	splice_region_variant	84811			BC006350	CCDS8374.1, CCDS53712.1	11q23.3	2012-06-07	2007-01-12		ENSG00000137656	ENSG00000137656			28199	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 71"""		"""BUD13 homolog (yeast)"""			12477932	Standard	NM_032725		Approved	MGC13125, fSAP71, Cwc26	uc001ppn.3	Q9BRD0	OTTHUMG00000045136	ENST00000260210.4:c.1499+1G>T	11.37:g.116628986C>A		Somatic		WXS	Illumina HiSeq	Phase_IV	A8K0S0|Q96LS7	Missense_Mutation	SNP	pfam_Bud13	p.G500W	ENST00000260210.4	37	c.1498	CCDS8374.1	11	.	.	.	.	.	.	.	.	.	.	C	27.7	4.856882	0.91433	.	.	ENSG00000137656	ENST00000375445;ENST00000260210	T;T	0.35048	1.39;1.33	5.6	5.6	0.85130	.	0.000000	0.85682	D	0.000000	T	0.73528	0.3598	H	0.95402	3.665	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.81360	-0.0968	10	0.87932	D	0	-25.9901	19.9823	0.97331	0.0:1.0:0.0:0.0	.	366;500	Q9BRD0-2;Q9BRD0	.;BUD13_HUMAN	W	366;500	ENSP00000364594:G366W;ENSP00000260210:G500W	ENSP00000260210:G500W	G	-	1	0	BUD13	116134196	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.258000	0.78371	2.788000	0.95919	0.650000	0.86243	GGG	BUD13	-	pfam_Bud13		0.453	BUD13-001	KNOWN	basic|CCDS	protein_coding	BUD13	HGNC	protein_coding	OTTHUMT00000104864.1	C	NM_032725	Missense_Mutation	116628986	-1	no_errors	ENST00000260210	ensembl	human	known	70_37	missense	SNP	1.000	A
HEATR4	399671	genome.wustl.edu	37	14	73959863	73959864	+	Intron	INS	-	-	A			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr14:73959863_73959864insA	ENST00000553558.1	-	17	3107				HEATR4_ENST00000560393.1_Intron|C14orf169_ENST00000531973.1_RNA|HEATR4_ENST00000334988.2_Intron	NM_001220484.1	NP_001207413.1	Q86WZ0	HEAT4_HUMAN	HEAT repeat containing 4											breast(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	28				BRCA - Breast invasive adenocarcinoma(234;0.00386)|OV - Ovarian serous cystadenocarcinoma(108;0.0719)		GTTGGAGGTGGAAAAAAAACCC	0.441																																																	0																																										SO:0001627	intron_variant	79697			BC047590	CCDS9815.1, CCDS9815.2	14q24.3	2013-09-20			ENSG00000187105	ENSG00000187105			16761	protein-coding gene	gene with protein product						15489334	Standard	NM_203309		Approved	MGC48595	uc021rwf.2	Q86WZ0	OTTHUMG00000171602	ENST00000553558.1:c.2786-35->T	14.37:g.73959871_73959871dupA		Somatic		WXS	Illumina HiSeq	Phase_IV	B7Z7V9|E9KL41	RNA	INS	-	NULL	ENST00000553558.1	37	NULL	CCDS9815.2	14																																																																																			C14orf169	-	-		0.441	HEATR4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	C14orf169	HGNC	protein_coding	OTTHUMT00000414422.2	-	NM_203309		73959864	+1	no_errors	ENST00000531973	ensembl	human	known	70_37	rna	INS	0.000:0.000	A
C16orf78	123970	genome.wustl.edu	37	16	49433075	49433075	+	Silent	SNP	C	C	A			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr16:49433075C>A	ENST00000299191.3	+	5	801	c.684C>A	c.(682-684)acC>acA	p.T228T		NM_144602.2	NP_653203.1	Q8WTQ4	CP078_HUMAN	chromosome 16 open reading frame 78	228						nucleus (GO:0005634)				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(11)|upper_aerodigestive_tract(1)	22						ACATTCGGACCTTGCTCAAGT	0.453																																																	0													134.0	110.0	118.0					16																	49433075		2199	4300	6499	SO:0001819	synonymous_variant	123970			BC021181	CCDS10738.1	16q12.1	2008-02-05			ENSG00000166152	ENSG00000166152			28479	protein-coding gene	gene with protein product						12477932	Standard	NM_144602		Approved	MGC33367	uc002efr.3	Q8WTQ4	OTTHUMG00000133149	ENST00000299191.3:c.684C>A	16.37:g.49433075C>A		Somatic		WXS	Illumina HiSeq	Phase_IV		Silent	SNP	NULL	p.T228	ENST00000299191.3	37	c.684	CCDS10738.1	16																																																																																			C16orf78	-	NULL		0.453	C16orf78-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C16orf78	HGNC	protein_coding	OTTHUMT00000256846.1	C	NM_144602		49433075	+1	no_errors	ENST00000299191	ensembl	human	known	70_37	silent	SNP	0.999	A
C16orf95	100506581	genome.wustl.edu	37	16	87349385	87349385	+	Missense_Mutation	SNP	C	C	T	rs567528534		TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr16:87349385C>T	ENST00000253461.4	-	2	370	c.197G>A	c.(196-198)cGt>cAt	p.R66H	C16orf95_ENST00000567970.1_Missense_Mutation_p.R66H|RP11-178L8.7_ENST00000602282.1_RNA|RP11-178L8.4_ENST00000568879.1_Missense_Mutation_p.V145I|snoU13_ENST00000459533.1_RNA	NM_001195125.1|NM_001256917.1	NP_001182054.1|NP_001243846.1	Q9H693	CP095_HUMAN	chromosome 16 open reading frame 95	66																	TACCGAATGACGGGGGAGGCA	0.512													C|||	1	0.000199681	0.0	0.0	5008	,	,		22577	0.0		0.0	False		,,,				2504	0.001																0																																										SO:0001583	missense	100506581				CCDS54049.1, CCDS58491.1, CCDS73921.1	16q24.2	2012-10-10			ENSG00000260456	ENSG00000260456			40033	protein-coding gene	gene with protein product							Standard	NM_001195124		Approved		uc021tmh.1	Q9H693	OTTHUMG00000175680	ENST00000253461.4:c.197G>A	16.37:g.87349385C>T	ENSP00000253461:p.Arg66His	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	NULL	p.R66H	ENST00000253461.4	37	c.197	CCDS54049.1	16	.	.	.	.	.	.	.	.	.	.	C	11.28	1.591202	0.28357	.	.	ENSG00000131152	ENST00000253461	.	.	.	3.02	-1.1	0.09872	.	2.469990	0.01808	N	0.033309	T	0.10508	0.0257	N	0.08118	0	.	.	.	P	0.49358	0.923	B	0.31614	0.133	T	0.22243	-1.0222	8	0.38643	T	0.18	0.4471	6.2596	0.20893	0.0:0.4961:0.0:0.5039	.	66	Q9H693	CP095_HUMAN	H	66	.	ENSP00000253461:R66H	R	-	2	0	C16orf95	85906886	0.000000	0.05858	0.000000	0.03702	0.404000	0.30871	-0.105000	0.10907	-0.211000	0.10124	-0.379000	0.06801	CGT	C16orf95	-	NULL		0.512	C16orf95-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	C16orf95	HGNC	protein_coding	OTTHUMT00000430790.1	C	NM_001195124		87349385	-1	no_errors	ENST00000567970	ensembl	human	known	70_37	missense	SNP	0.000	T
MISP	126353	genome.wustl.edu	37	19	757449	757449	+	Missense_Mutation	SNP	G	G	T			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr19:757449G>T	ENST00000215582.6	+	2	606	c.503G>T	c.(502-504)gGa>gTa	p.G168V		NM_173481.2	NP_775752.1	Q8IVT2	MISP_HUMAN	mitotic spindle positioning	168					mitotic nuclear division (GO:0007067)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)											CCTGACCACGGAGACCCCAGG	0.672																																																	0													20.0	23.0	22.0					19																	757449		2186	4290	6476	SO:0001583	missense	126353			BC052236	CCDS12042.1	19p13.3	2014-06-25	2013-05-03	2013-05-03	ENSG00000099812	ENSG00000099812			27000	protein-coding gene	gene with protein product	"""mitotic interactor and substrate of Plk1"""	615289	"""chromosome 19 open reading frame 21"""	C19orf21		23574715, 23509069, 24475924	Standard	NM_173481		Approved	DKFZp686H18209, Caprice		Q8IVT2	OTTHUMG00000181786	ENST00000215582.6:c.503G>T	19.37:g.757449G>T	ENSP00000215582:p.Gly168Val	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	NULL	p.G168V	ENST00000215582.6	37	c.503	CCDS12042.1	19	.	.	.	.	.	.	.	.	.	.	G	3.239	-0.155697	0.06544	.	.	ENSG00000099812	ENST00000215582	T	0.66099	-0.19	4.4	0.777	0.18538	.	2.951330	0.01291	N	0.010038	T	0.49389	0.1554	L	0.40543	1.245	0.09310	N	0.999999	B	0.12013	0.005	B	0.14023	0.01	T	0.09058	-1.0692	10	0.26408	T	0.33	-7.1304	0.5112	0.00596	0.2225:0.1401:0.2943:0.3431	.	168	Q8IVT2	CS021_HUMAN	V	168	ENSP00000215582:G168V	ENSP00000215582:G168V	G	+	2	0	C19orf21	708449	0.000000	0.05858	0.001000	0.08648	0.023000	0.10783	-1.394000	0.02518	0.013000	0.14918	0.313000	0.20887	GGA	C19orf21	-	NULL		0.672	MISP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C19orf21	HGNC	protein_coding	OTTHUMT00000457600.2	G	NM_173481		757449	+1	no_errors	ENST00000215582	ensembl	human	known	70_37	missense	SNP	0.002	T
TMEM259	91304	genome.wustl.edu	37	19	1014419	1014419	+	Silent	SNP	C	C	T			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr19:1014419C>T	ENST00000356663.3	-	2	400	c.279G>A	c.(277-279)tcG>tcA	p.S93S	TMEM259_ENST00000333175.5_Silent_p.S93S	NM_001033026.1	NP_001028198.1	Q4ZIN3	MBRL_HUMAN	transmembrane protein 259	93						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)											AGTTGATGGGCGAGCGGGAGA	0.667																																																	0													33.0	32.0	32.0					19																	1014419		2202	4298	6500	SO:0001819	synonymous_variant	91304			BC008957	CCDS12052.1, CCDS32862.1	19p13.3	2013-02-06	2013-02-06	2013-02-06	ENSG00000182087	ENSG00000182087			17039	protein-coding gene	gene with protein product	"""membralin"", ""aspecific BCL2 ARE-binding protein 1"""	611011	"""chromosome 19 open reading frame 6"""	C19orf6		12638133, 16084606	Standard	XM_005259675		Approved	MGC4022, ASBABP1, MBRL	uc002lqr.1	Q4ZIN3		ENST00000356663.3:c.279G>A	19.37:g.1014419C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	O60392|Q8NF79|Q96H30	Silent	SNP	pfam_Membralin	p.S93	ENST00000356663.3	37	c.279	CCDS32862.1	19																																																																																			C19orf6	-	pfam_Membralin		0.667	TMEM259-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	C19orf6	HGNC	protein_coding	OTTHUMT00000458236.1	C	NM_033420		1014419	-1	no_errors	ENST00000356663	ensembl	human	known	70_37	silent	SNP	0.005	T
CFAP74	85452	genome.wustl.edu	37	1	1903506	1903506	+	IGR	SNP	C	C	T			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr1:1903506C>T								TMEM52 (52794 upstream) : C1orf222 (16056 downstream)																							CCTCCTTCTTCTCTTGCTCTC	0.587																																																	0													98.0	108.0	105.0					1																	1903506		2149	4257	6406	SO:0001628	intergenic_variant	85452																															1.37:g.1903506C>T		Somatic		WXS	Illumina HiSeq	Phase_IV		Silent	SNP	NULL	p.E267		37	c.801		1																																																																																			C1orf222	-	NULL	0	0.587					C1orf222	HGNC			C			1903506	-1	no_errors	ENST00000270720	ensembl	human	known	70_37	silent	SNP	0.270	T
C1orf109	54955	genome.wustl.edu	37	1	38148083	38148083	+	3'UTR	SNP	A	A	C			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr1:38148083A>C	ENST00000358011.4	-	0	1513				C1orf109_ENST00000609516.1_5'UTR	NM_017850.1	NP_060320.1	Q9NX04	CA109_HUMAN	chromosome 1 open reading frame 109											lung(2)|prostate(2)	4		Myeloproliferative disorder(586;0.0393)				ACTCAGAGGAATGTGGCAAGT	0.502											OREG0013382	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0																																										SO:0001624	3_prime_UTR_variant	54955			AK000515	CCDS423.1	1p34.3	2012-06-21			ENSG00000116922	ENSG00000116922			26039	protein-coding gene	gene with protein product		614799				22548824	Standard	XM_005270979		Approved	FLJ20508	uc001cbp.3	Q9NX04	OTTHUMG00000004323	ENST00000358011.4:c.*712T>G	1.37:g.38148083A>C		Somatic	876	WXS	Illumina HiSeq	Phase_IV	D3DPT1|Q8WVD1	RNA	SNP	-	NULL	ENST00000358011.4	37	NULL	CCDS423.1	1																																																																																			C1orf109	-	-		0.502	C1orf109-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C1orf109	HGNC	protein_coding	OTTHUMT00000012486.1	A	NM_017850		38148083	-1	no_errors	ENST00000494120	ensembl	human	known	70_37	rna	SNP	0.000	C
C1orf168	199920	genome.wustl.edu	37	1	57257810	57257810	+	Missense_Mutation	SNP	C	C	T			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr1:57257810C>T	ENST00000343433.6	-	2	756	c.676G>A	c.(676-678)Gaa>Aaa	p.E226K	C1orf168_ENST00000484327.1_5'UTR	NM_001004303.4	NP_001004303.3	Q5VWT5	CA168_HUMAN	chromosome 1 open reading frame 168	226										NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(13)|ovary(3)|skin(6)|stomach(1)|urinary_tract(2)	46						GGTGGGTTTTCCCAGCTTTTT	0.517																																																	0													66.0	73.0	71.0					1																	57257810		2203	4300	6503	SO:0001583	missense	199920			BX648439	CCDS30729.1	1p32.2	2011-02-22			ENSG00000187889	ENSG00000187889			27295	protein-coding gene	gene with protein product						14702039	Standard	NM_001004303		Approved	RP4-758N20.2, FLJ43208	uc001cym.4	Q5VWT5	OTTHUMG00000008281	ENST00000343433.6:c.676G>A	1.37:g.57257810C>T	ENSP00000345972:p.Glu226Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q63HM3|Q6ZUY6	Missense_Mutation	SNP	superfamily_SH3_domain	p.E226K	ENST00000343433.6	37	c.676	CCDS30729.1	1	.	.	.	.	.	.	.	.	.	.	C	11.89	1.774508	0.31411	.	.	ENSG00000187889	ENST00000343433	T	0.34472	1.36	3.75	1.84	0.25277	.	0.465038	0.18348	N	0.143967	T	0.17916	0.0430	N	0.17082	0.46	0.09310	N	1	B;B	0.24721	0.033;0.11	B;B	0.23419	0.031;0.046	T	0.22941	-1.0202	10	0.15066	T	0.55	-3.7446	6.4016	0.21642	0.0:0.7717:0.0:0.2283	.	226;226	Q5VWT5-2;Q5VWT5	.;CA168_HUMAN	K	226	ENSP00000345972:E226K	ENSP00000345972:E226K	E	-	1	0	C1orf168	57030398	0.002000	0.14202	0.001000	0.08648	0.008000	0.06430	0.895000	0.28363	0.551000	0.29008	-0.253000	0.11424	GAA	C1orf168	-	NULL		0.517	C1orf168-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C1orf168	HGNC	protein_coding	OTTHUMT00000022751.2	C	NM_001004303		57257810	-1	no_errors	ENST00000343433	ensembl	human	known	70_37	missense	SNP	0.001	T
ERICH3	127254	genome.wustl.edu	37	1	75065580	75065580	+	Missense_Mutation	SNP	G	G	T			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr1:75065580G>T	ENST00000326665.5	-	11	1743	c.1525C>A	c.(1525-1527)Caa>Aaa	p.Q509K	RP4-612J11.1_ENST00000416017.1_RNA|C1orf173_ENST00000420661.2_Missense_Mutation_p.Q312K	NM_001002912.4	NP_001002912.4	Q5RHP9	ERIC3_HUMAN		509	Glu-rich.									NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(23)|lung(123)|ovary(3)|prostate(10)|skin(10)|stomach(1)|upper_aerodigestive_tract(5)	184						TTTTCACCTTGTTTCTCCTCA	0.338																																																	0													162.0	171.0	168.0					1																	75065580		2203	4300	6503	SO:0001583	missense	127254																														ENST00000326665.5:c.1525C>A	1.37:g.75065580G>T	ENSP00000322609:p.Gln509Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q68DL8|Q6GMR8|Q6ZSF9|Q8ND41	Missense_Mutation	SNP	NULL	p.Q509K	ENST00000326665.5	37	c.1525	CCDS30755.1	1	.	.	.	.	.	.	.	.	.	.	G	0.159	-1.083602	0.01888	.	.	ENSG00000178965	ENST00000326665;ENST00000420661	T;T	0.18502	2.63;2.21	5.85	3.77	0.43336	.	.	.	.	.	T	0.03263	0.0095	L	0.42245	1.32	0.26317	N	0.977732	B;B	0.31548	0.034;0.328	B;B	0.23716	0.032;0.048	T	0.37174	-0.9717	9	0.05959	T	0.93	-3.3205	7.5349	0.27704	0.2718:0.0:0.7282:0.0	.	312;509	Q5RHP9-3;Q5RHP9	.;CA173_HUMAN	K	509;312	ENSP00000322609:Q509K;ENSP00000398581:Q312K	ENSP00000322609:Q509K	Q	-	1	0	C1orf173	74838168	1.000000	0.71417	0.860000	0.33809	0.002000	0.02628	2.085000	0.41634	1.483000	0.48342	-0.157000	0.13467	CAA	C1orf173	-	NULL		0.338	C1orf173-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C1orf173	HGNC	protein_coding	OTTHUMT00000026516.1	G			75065580	-1	no_errors	ENST00000326665	ensembl	human	known	70_37	missense	SNP	0.982	T
C1orf162	128346	genome.wustl.edu	37	1	112018185	112018185	+	Intron	SNP	C	C	G			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr1:112018185C>G	ENST00000343534.5	+	2	239				C1orf162_ENST00000464591.1_3'UTR|C1orf162_ENST00000369718.3_Intron	NM_174896.2	NP_777556.1	Q8NEQ5	CA162_HUMAN	chromosome 1 open reading frame 162							integral component of membrane (GO:0016021)				NS(1)|kidney(1)|large_intestine(1)|lung(1)|ovary(1)	5		all_cancers(81;0.00116)|all_epithelial(167;0.000761)|all_lung(203;0.00277)|Lung NSC(277;0.0043)		Lung(183;0.0236)|Colorectal(144;0.0286)|all cancers(265;0.0572)|Epithelial(280;0.0862)|COAD - Colon adenocarcinoma(174;0.112)|LUSC - Lung squamous cell carcinoma(189;0.134)		AGTTGGCAGTCAATATAAAAA	0.378																																																	0																																										SO:0001627	intron_variant	128346			BC017973	CCDS837.1, CCDS72837.1	1p13.2	2008-02-05			ENSG00000143110	ENSG00000143110			28344	protein-coding gene	gene with protein product						12477932	Standard	XM_005270475		Approved	MGC24133	uc001ebe.3	Q8NEQ5	OTTHUMG00000011750	ENST00000343534.5:c.-11-455C>G	1.37:g.112018185C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	Q5QNZ1	RNA	SNP	-	NULL	ENST00000343534.5	37	NULL	CCDS837.1	1																																																																																			C1orf162	-	-		0.378	C1orf162-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	C1orf162	HGNC	protein_coding	OTTHUMT00000032471.1	C	NM_174896		112018185	+1	no_errors	ENST00000464591	ensembl	human	known	70_37	rna	SNP	0.007	G
C1orf189	388701	genome.wustl.edu	37	1	154178094	154178094	+	Silent	SNP	T	T	C			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr1:154178094T>C	ENST00000368525.3	-	2	79	c.54A>G	c.(52-54)ggA>ggG	p.G18G	C1orf43_ENST00000483282.1_5'Flank	NM_001010979.1	NP_001010979.1	Q5VU69	CA189_HUMAN	chromosome 1 open reading frame 189	18										kidney(1)|large_intestine(3)|lung(1)|skin(2)	7	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)					TCTTCTTAAGTCCCATGGCCT	0.453																																																	0													150.0	134.0	139.0					1																	154178094		2203	4300	6503	SO:0001819	synonymous_variant	388701				CCDS30876.1	1q21.3	2012-07-27			ENSG00000163263	ENSG00000163263			32305	protein-coding gene	gene with protein product							Standard	NM_001010979		Approved		uc001fee.2	Q5VU69	OTTHUMG00000035982	ENST00000368525.3:c.54A>G	1.37:g.154178094T>C		Somatic		WXS	Illumina HiSeq	Phase_IV	A1L4E3	Silent	SNP	NULL	p.G18	ENST00000368525.3	37	c.54	CCDS30876.1	1																																																																																			C1orf189	-	NULL		0.453	C1orf189-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C1orf189	HGNC	protein_coding	OTTHUMT00000087672.1	T	NM_001010979		154178094	-1	no_errors	ENST00000368525	ensembl	human	known	70_37	silent	SNP	0.003	C
CCDC181	57821	genome.wustl.edu	37	1	169391436	169391436	+	Missense_Mutation	SNP	G	G	C			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr1:169391436G>C	ENST00000367806.3	-	3	385	c.233C>G	c.(232-234)cCa>cGa	p.P78R	CCDC181_ENST00000545005.1_Missense_Mutation_p.P78R|CCDC181_ENST00000367805.3_Missense_Mutation_p.P78R|CCDC181_ENST00000491570.1_5'UTR	NM_021179.1	NP_067002.1	Q5TID7	CC181_HUMAN	coiled-coil domain containing 181	78						nucleus (GO:0005634)											ATTTCTTCTTGGTGAGACCTC	0.393																																																	0													89.0	80.0	83.0					1																	169391436		2203	4300	6503	SO:0001583	missense	57821			AL049687	CCDS1279.1, CCDS72979.1	1q24	2013-03-14	2013-03-14	2013-03-14	ENSG00000117477	ENSG00000117477			28051	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 114"""	C1orf114			Standard	XM_005245381		Approved	FLJ25846	uc001gfz.1	Q5TID7	OTTHUMG00000035448	ENST00000367806.3:c.233C>G	1.37:g.169391436G>C	ENSP00000356780:p.Pro78Arg	Somatic		WXS	Illumina HiSeq	Phase_IV	O60780|Q53FD5|Q5TID9|Q8TC48	Missense_Mutation	SNP	NULL	p.P78R	ENST00000367806.3	37	c.233		1	.	.	.	.	.	.	.	.	.	.	G	10.77	1.443064	0.25987	.	.	ENSG00000117477	ENST00000367805;ENST00000367806;ENST00000545005;ENST00000456107	T;T;T;T	0.23348	1.92;1.92;1.92;1.91	5.07	3.2	0.36748	.	0.947380	0.08937	N	0.872128	T	0.12518	0.0304	M	0.65975	2.015	0.39332	D	0.965438	P;P;P	0.42203	0.542;0.773;0.773	B;B;B	0.42422	0.252;0.387;0.387	T	0.32851	-0.9891	9	0.44086	T	0.13	0.1813	1.9547	0.03374	0.1592:0.1183:0.4309:0.2916	.	78;78;78	Q5TID7-2;Q5TID7;Q5TID7-3	.;CA114_HUMAN;.	R	78	ENSP00000356779:P78R;ENSP00000356780:P78R;ENSP00000442297:P78R;ENSP00000411000:P78R	ENSP00000356779:P78R	P	-	2	0	C1orf114	167658060	0.090000	0.21635	0.887000	0.34795	0.693000	0.40251	0.346000	0.19997	0.547000	0.28938	0.563000	0.77884	CCA	C1orf114	-	NULL		0.393	CCDC181-002	KNOWN	basic|appris_candidate_longest	protein_coding	C1orf114	HGNC	protein_coding	OTTHUMT00000086099.1	G	NM_021179		169391436	-1	no_errors	ENST00000367806	ensembl	human	known	70_37	missense	SNP	0.184	C
CCDC185	164127	genome.wustl.edu	37	1	223568631	223568631	+	Missense_Mutation	SNP	T	T	G			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr1:223568631T>G	ENST00000366875.3	+	1	1917	c.1814T>G	c.(1813-1815)cTt>cGt	p.L605R		NM_152610.2	NP_689823.2	Q8N715	CC185_HUMAN		605										breast(4)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(12)|skin(3)	29				GBM - Glioblastoma multiforme(131;0.0704)		AACAGCTCCCTTGATCAGATG	0.577																																																	0													49.0	49.0	49.0					1																	223568631		2203	4300	6503	SO:0001583	missense	164127																														ENST00000366875.3:c.1814T>G	1.37:g.223568631T>G	ENSP00000355840:p.Leu605Arg	Somatic		WXS	Illumina HiSeq	Phase_IV	Q8N746|Q8NA93	Missense_Mutation	SNP	NULL	p.L605R	ENST00000366875.3	37	c.1814	CCDS1537.1	1	.	.	.	.	.	.	.	.	.	.	T	16.52	3.147316	0.57151	.	.	ENSG00000178395	ENST00000366875	T	0.24151	1.87	5.61	1.75	0.24633	.	.	.	.	.	T	0.19805	0.0476	N	0.19112	0.55	0.21915	N	0.999474	P	0.48503	0.911	P	0.47941	0.562	T	0.10064	-1.0646	9	0.51188	T	0.08	.	6.5236	0.22289	0.2687:0.0:0.14:0.5914	.	605	Q8N715	CA065_HUMAN	R	605	ENSP00000355840:L605R	ENSP00000355840:L605R	L	+	2	0	C1orf65	221635254	0.979000	0.34478	0.001000	0.08648	0.020000	0.10135	2.278000	0.43426	0.023000	0.15187	0.533000	0.62120	CTT	C1orf65	-	NULL		0.577	C1orf65-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C1orf65	HGNC	protein_coding	OTTHUMT00000092718.1	T			223568631	+1	no_errors	ENST00000366875	ensembl	human	known	70_37	missense	SNP	0.659	G
C1orf101	257044	genome.wustl.edu	37	1	244662331	244662331	+	Missense_Mutation	SNP	G	G	A			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr1:244662331G>A	ENST00000366534.4	+	7	433	c.379G>A	c.(379-381)Gaa>Aaa	p.E127K	C1orf101_ENST00000366533.4_Missense_Mutation_p.E127K|C1orf101_ENST00000366531.3_Intron|C1orf101_ENST00000473875.1_Intron	NM_001130957.1	NP_001124429.1	Q5SY80	CA101_HUMAN	chromosome 1 open reading frame 101	127						CatSper complex (GO:0036128)				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(2)|urinary_tract(3)	36	all_cancers(71;2.99e-05)|all_epithelial(71;0.00015)|all_neural(11;0.0269)|Breast(184;0.0654)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0874)|Lung NSC(105;0.121)		all cancers(7;1.22e-05)|OV - Ovarian serous cystadenocarcinoma(106;0.001)|GBM - Glioblastoma multiforme(7;0.0154)			ATATGATCCAGAAAGTGCAGA	0.358																																																	0													110.0	106.0	107.0					1																	244662331		2203	4300	6503	SO:0001583	missense	257044			BC032859	CCDS1625.1, CCDS44340.1, CCDS55693.1	1q44	2012-12-20			ENSG00000179397	ENSG00000179397			28491	protein-coding gene	gene with protein product						12477932	Standard	NM_173807		Approved	MGC33370	uc001iam.3	Q5SY80	OTTHUMG00000040103	ENST00000366534.4:c.379G>A	1.37:g.244662331G>A	ENSP00000355492:p.Glu127Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	B4DZR4|B7Z7X5|E9PEA3|Q8IYZ6	Missense_Mutation	SNP	NULL	p.E127K	ENST00000366534.4	37	c.379	CCDS44340.1	1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.072550	0.76415	.	.	ENSG00000179397	ENST00000391841;ENST00000366534;ENST00000366533	T;T	0.52295	0.68;0.67	5.06	5.06	0.68205	.	0.130908	0.34676	N	0.003761	T	0.62368	0.2422	L	0.53249	1.67	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.74674	0.984;0.984	T	0.60100	-0.7329	10	0.46703	T	0.11	.	14.1496	0.65373	0.0:0.0:1.0:0.0	.	127;127	Q5SY80;Q5SY80-2	CA101_HUMAN;.	K	127	ENSP00000355492:E127K;ENSP00000355491:E127K	ENSP00000355491:E127K	E	+	1	0	C1orf101	242728954	1.000000	0.71417	0.993000	0.49108	0.636000	0.38137	2.443000	0.44881	2.800000	0.96347	0.650000	0.86243	GAA	C1orf101	-	NULL		0.358	C1orf101-001	NOVEL	basic|appris_principal|CCDS	protein_coding	C1orf101	HGNC	protein_coding	OTTHUMT00000096701.1	G	NM_173807		244662331	+1	no_errors	ENST00000366534	ensembl	human	known	70_37	missense	SNP	1.000	A
C4orf3	401152	genome.wustl.edu	37	4	120219935	120219935	+	Splice_Site	SNP	C	C	T			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr4:120219935C>T	ENST00000504110.1	-	2	586		c.e2-1		C4orf3_ENST00000399075.4_Splice_Site	NM_001001701.3	NP_001001701.2	Q8WVX3	CD003_HUMAN	chromosome 4 open reading frame 3							integral component of membrane (GO:0016021)				breast(1)|large_intestine(1)|lung(4)	6						GCGAACAAGTCTGTAAAAAGC	0.318																																																	0													117.0	110.0	112.0					4																	120219935		1820	4071	5891	SO:0001630	splice_region_variant	401152				CCDS43266.1, CCDS54798.1	4q26	2012-02-24			ENSG00000164096	ENSG00000164096			19225	protein-coding gene	gene with protein product	"""HCV F-transactivated protein 1"""						Standard	NM_001001701		Approved		uc021xrf.1	Q8WVX3	OTTHUMG00000161333	ENST00000504110.1:c.199-1G>A	4.37:g.120219935C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q6J203	Splice_Site	SNP	-	e3-1	ENST00000504110.1	37	c.600-1	CCDS43266.1	4																																																																																			C4orf3	-	-		0.318	C4orf3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C4orf3	HGNC	protein_coding	OTTHUMT00000364576.3	C	NM_001001701	Intron	120219935	-1	no_errors	ENST00000399075	ensembl	human	known	70_37	splice_site	SNP	0.929	T
C5orf38	153571	genome.wustl.edu	37	5	2752434	2752434	+	Missense_Mutation	SNP	C	C	T			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr5:2752434C>T	ENST00000334000.3	+	1	173	c.56C>T	c.(55-57)tCc>tTc	p.S19F	IRX2_ENST00000502957.1_Intron|C5orf38_ENST00000505778.1_Missense_Mutation_p.S19F|C5orf38_ENST00000397835.4_Missense_Mutation_p.S19F|IRX2_ENST00000382611.6_5'Flank|IRX2_ENST00000302057.5_5'Flank|C5orf38_ENST00000515640.1_Missense_Mutation_p.S19F|C5orf38_ENST00000457752.2_Missense_Mutation_p.S19F	NM_178569.2	NP_848664.1	Q86SI9	CEI_HUMAN	chromosome 5 open reading frame 38	19						extracellular region (GO:0005576)				endometrium(2)|large_intestine(1)|lung(1)	4				GBM - Glioblastoma multiforme(108;0.205)		GCTCTCACTTCCACGGTCCCG	0.716																																																	0													11.0	14.0	13.0					5																	2752434		2168	4241	6409	SO:0001583	missense	153571			AY249324	CCDS34131.1	5p15.33	2014-06-02			ENSG00000186493	ENSG00000186493			24226	protein-coding gene	gene with protein product	"""coordinated expression to IRX2"", ""IRX2 neighbor"""	610522				16515847, 16750006	Standard	XM_005248256		Approved	CEI, IRX2NB	uc003jdc.3	Q86SI9	OTTHUMG00000161741	ENST00000334000.3:c.56C>T	5.37:g.2752434C>T	ENSP00000334267:p.Ser19Phe	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	NULL	p.S19F	ENST00000334000.3	37	c.56	CCDS34131.1	5	.	.	.	.	.	.	.	.	.	.	C	11.34	1.609752	0.28623	.	.	ENSG00000186493	ENST00000457752;ENST00000397835;ENST00000334000;ENST00000505778;ENST00000515640	.	.	.	2.02	2.02	0.26589	.	.	.	.	.	T	0.33818	0.0876	N	0.08118	0	0.09310	N	1	D	0.62365	0.991	D	0.65684	0.937	T	0.11767	-1.0574	8	0.87932	D	0	.	7.5672	0.27885	0.0:1.0:0.0:0.0	.	19	Q86SI9	CEI_HUMAN	F	19	.	ENSP00000334267:S19F	S	+	2	0	C5orf38	2805434	0.007000	0.16637	0.011000	0.14972	0.014000	0.08584	2.148000	0.42235	1.451000	0.47736	0.462000	0.41574	TCC	C5orf38	-	NULL		0.716	C5orf38-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	C5orf38	HGNC	protein_coding	OTTHUMT00000365956.2	C	NM_178569		2752434	+1	no_errors	ENST00000334000	ensembl	human	known	70_37	missense	SNP	0.118	T
C5orf56	441108	genome.wustl.edu	37	5	131811683	131811683	+	3'UTR	SNP	C	C	T			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr5:131811683C>T	ENST00000464024.1	+	0	848				AC116366.6_ENST00000443093.2_RNA|C5orf56_ENST00000378953.4_3'UTR			Q8N8D9	CE056_HUMAN	chromosome 5 open reading frame 56											breast(1)|endometrium(1)|large_intestine(1)|lung(3)	6						ACAATTAAACCATGTTCCTTT	0.368											OREG0003456	type=REGULATORY REGION|Gene=AF086145|Dataset=Stanford ENCODE Dataset|EvidenceSubtype=Transient transfection luciferase assay																																					0																																										SO:0001624	3_prime_UTR_variant	441108			BC130299		5q31.1	2009-04-20			ENSG00000197536	ENSG00000197536			33838	protein-coding gene	gene with protein product							Standard	NR_045116		Approved		uc010jds.2	Q8N8D9	OTTHUMG00000059493	ENST00000464024.1:c.*845C>T	5.37:g.131811683C>T		Somatic	1590	WXS	Illumina HiSeq	Phase_IV	A1L3V9|A6NKA0	RNA	SNP	-	NULL	ENST00000464024.1	37	NULL		5																																																																																			C5orf56	-	-		0.368	C5orf56-006	PUTATIVE	basic|exp_conf	processed_transcript	C5orf56	HGNC	protein_coding	OTTHUMT00000132334.1	C	NM_001013717		131811683	+1	no_errors	ENST00000464024	ensembl	human	putative	70_37	rna	SNP	0.004	T
C9orf72	203228	genome.wustl.edu	37	9	27548004	27548004	+	3'UTR	SNP	A	A	C			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr9:27548004A>C	ENST00000380003.3	-	0	1739				C9orf72_ENST00000488117.1_5'UTR	NM_001256054.1|NM_018325.3	NP_001242983.1|NP_060795.1	Q96LT7	CI072_HUMAN	chromosome 9 open reading frame 72						autophagy (GO:0006914)|cell death (GO:0008219)|endocytosis (GO:0006897)	autophagic vacuole (GO:0005776)|cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768)|extracellular space (GO:0005615)|lysosome (GO:0005764)|nucleus (GO:0005634)	Rab GTPase binding (GO:0017137)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(10)|ovary(4)|pancreas(1)	23		all_neural(11;7.57e-10)		LUSC - Lung squamous cell carcinoma(38;0.0001)|Lung(218;0.00016)		TTATATTGTAAACATAGGTCT	0.328																																																	0																																										SO:0001624	3_prime_UTR_variant	203228			AL832467	CCDS6522.1, CCDS6523.1	9p21.1	2014-09-17			ENSG00000147894	ENSG00000147894			28337	protein-coding gene	gene with protein product		614260				21944778, 24549040	Standard	NM_145005		Approved	MGC23980	uc003zqq.3	Q96LT7	OTTHUMG00000019716	ENST00000380003.3:c.*230T>G	9.37:g.27548004A>C		Somatic		WXS	Illumina HiSeq	Phase_IV	A8K5W0|D3DRK6|G8I0B6|Q6NUS9	RNA	SNP	-	NULL	ENST00000380003.3	37	NULL	CCDS6522.1	9																																																																																			C9orf72	-	-		0.328	C9orf72-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C9orf72	HGNC	protein_coding	OTTHUMT00000051969.1	A	NM_018325		27548004	-1	no_errors	ENST00000488117	ensembl	human	known	70_37	rna	SNP	1.000	C
CCDC180	100499483	genome.wustl.edu	37	9	100056251	100056251	+	Missense_Mutation	SNP	T	T	A			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr9:100056251T>A	ENST00000357054.1	+	13	1044	c.109T>A	c.(109-111)Tac>Aac	p.Y37N	RP11-23J9.4_ENST00000534123.1_RNA|RP11-23J9.5_ENST00000375204.2_RNA|CCDC180_ENST00000375202.2_5'UTR|CCDC180_ENST00000395220.1_Missense_Mutation_p.Y37N|CCDC180_ENST00000411667.2_5'UTR|CCDC180_ENST00000375205.2_Missense_Mutation_p.Y77N			Q9P1Z9	CC180_HUMAN	coiled-coil domain containing 180	37						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)											CAACTTCAACTACTTTCTGTT	0.547																																																	0													191.0	177.0	182.0					9																	100056251		2203	4300	6503	SO:0001583	missense	100499483			AK123391	CCDS35077.1, CCDS35077.2	9q22.33	2013-03-08	2013-03-08	2013-03-08		ENSG00000197816			29303	protein-coding gene	gene with protein product	"""Behcet's Disease Associated Gene 1"""		"""KIAA1529"", ""chromosome 9 open reading frame 174"""	KIAA1529, C9orf174		10819331	Standard	NM_020893		Approved	DKFZp434I2420, BDAG1	uc004axg.2	Q9P1Z9	OTTHUMG00000167001	ENST00000357054.1:c.109T>A	9.37:g.100056251T>A	ENSP00000349562:p.Tyr37Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	Q2KHR6|Q5VV25|Q68DP5|Q69YV9|Q6AHY0	Missense_Mutation	SNP	NULL	p.Y37N	ENST00000357054.1	37	c.109		9	.	.	.	.	.	.	.	.	.	.	T	17.60	3.430428	0.62844	.	.	ENSG00000197816	ENST00000375205;ENST00000357054;ENST00000395220	D;D;D	0.87412	-2.25;-2.25;-2.25	5.49	4.34	0.51931	.	.	.	.	.	D	0.92414	0.7592	.	.	.	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.72075	0.976;0.976	D	0.92262	0.5818	8	0.87932	D	0	.	9.9598	0.41688	0.0:0.081:0.0:0.919	.	37;37	B7ZMG3;Q9P1Z9	.;CI174_HUMAN	N	77;37;37	ENSP00000364351:Y77N;ENSP00000349562:Y37N;ENSP00000378646:Y37N	ENSP00000349562:Y37N	Y	+	1	0	C9orf174	99096072	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	6.609000	0.74173	1.021000	0.39600	0.533000	0.62120	TAC	C9orf174	-	NULL		0.547	CCDC180-201	KNOWN	basic	protein_coding	C9orf174	HGNC	protein_coding		T	NM_020893		100056251	+1	no_errors	ENST00000357054	ensembl	human	known	70_37	missense	SNP	1.000	A
C9orf84	158401	genome.wustl.edu	37	9	114490154	114490154	+	Silent	SNP	C	C	T			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr9:114490154C>T	ENST00000318737.4	-	11	1529	c.1401G>A	c.(1399-1401)aaG>aaA	p.K467K	C9orf84_ENST00000374287.3_Silent_p.K467K|C9orf84_ENST00000394777.4_Silent_p.K428K|C9orf84_ENST00000394779.3_Silent_p.K428K	NM_173521.3	NP_775792.3	Q5VXU9	CI084_HUMAN	chromosome 9 open reading frame 84	467										breast(1)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(10)|liver(1)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						CTTGGTCATTCTTTGGTTTTT	0.358																																																	0													104.0	105.0	105.0					9																	114490154		2203	4300	6503	SO:0001819	synonymous_variant	158401			AL833535	CCDS6781.3, CCDS43863.1	9q32	2012-03-16			ENSG00000165181	ENSG00000165181			26535	protein-coding gene	gene with protein product							Standard	XM_005251738		Approved	FLJ32779	uc004bfr.3	Q5VXU9	OTTHUMG00000020495	ENST00000318737.4:c.1401G>A	9.37:g.114490154C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A2A2V3|Q2M1H8|Q96M73	Silent	SNP	superfamily_RuvA_2-like	p.K467	ENST00000318737.4	37	c.1401	CCDS6781.3	9																																																																																			C9orf84	-	NULL		0.358	C9orf84-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	C9orf84	HGNC	protein_coding	OTTHUMT00000053656.2	C	NM_173521		114490154	-1	no_errors	ENST00000318737	ensembl	human	known	70_37	silent	SNP	0.639	T
STKLD1	169436	genome.wustl.edu	37	9	136265575	136265575	+	Silent	SNP	G	G	A			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr9:136265575G>A	ENST00000371957.3	+	12	1223	c.1116G>A	c.(1114-1116)gtG>gtA	p.V372V	C9orf96_ENST00000371955.1_5'UTR	NM_153710.3	NP_714921.4	Q8NE28	STKL1_HUMAN		372							ATP binding (GO:0005524)|protein kinase activity (GO:0004672)			autonomic_ganglia(1)|central_nervous_system(3)|endometrium(1)|kidney(1)|large_intestine(5)|lung(10)|ovary(2)|stomach(2)	25				OV - Ovarian serous cystadenocarcinoma(145;1.06e-07)|Epithelial(140;1.28e-06)|all cancers(34;1.46e-05)		TGGAGGTGGTGGTCACGACCA	0.657																																																	0													134.0	94.0	108.0					9																	136265575		2203	4300	6503	SO:0001819	synonymous_variant	169436																														ENST00000371957.3:c.1116G>A	9.37:g.136265575G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q5T8U8|Q6ZMP6|Q6ZMQ5	Silent	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.V372	ENST00000371957.3	37	c.1116	CCDS35169.1	9																																																																																			C9orf96	-	superfamily_ARM-type_fold		0.657	C9orf96-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C9orf96	HGNC	protein_coding	OTTHUMT00000054855.1	G			136265575	+1	no_errors	ENST00000371957	ensembl	human	known	70_37	silent	SNP	0.000	A
CACNA1C	775	genome.wustl.edu	37	12	2706419	2706419	+	Silent	SNP	T	T	G			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr12:2706419T>G	ENST00000347598.4	+	21	2817	c.2817T>G	c.(2815-2817)gtT>gtG	p.V939V	CACNA1C_ENST00000399644.1_Intron|CACNA1C_ENST00000399591.1_Intron|CACNA1C_ENST00000399649.1_Silent_p.V939V|CACNA1C_ENST00000399601.1_Intron|CACNA1C_ENST00000399595.1_Silent_p.V939V|CACNA1C_ENST00000399621.1_Silent_p.V939V|CACNA1C_ENST00000344100.3_Silent_p.V939V|CACNA1C_ENST00000480911.1_Intron|CACNA1C_ENST00000399641.1_Intron|CACNA1C_ENST00000399655.1_Silent_p.V939V|CACNA1C_ENST00000399637.1_Intron|CACNA1C_ENST00000399603.1_Silent_p.V939V|CACNA1C_ENST00000335762.5_Silent_p.V964V|CACNA1C_ENST00000399629.1_Intron|CACNA1C_ENST00000402845.3_Silent_p.V939V|CACNA1C_ENST00000406454.3_Silent_p.V939V|CACNA1C_ENST00000399606.1_Silent_p.V939V|CACNA1C_ENST00000399634.1_Silent_p.V939V|CACNA1C_ENST00000399638.1_Silent_p.V939V|CACNA1C_ENST00000327702.7_Intron|CACNA1C_ENST00000399597.1_Silent_p.V939V|CACNA1C_ENST00000399617.1_Silent_p.V939V	NM_001129827.1|NM_199460.2	NP_001123299.1|NP_955630.2	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	939					adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transport into cytosol (GO:0060402)|calcium ion-dependent exocytosis (GO:0017156)|calcium-mediated signaling using extracellular calcium source (GO:0035585)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|energy reserve metabolic process (GO:0006112)|glucose homeostasis (GO:0042593)|growth hormone secretion (GO:0030252)|insulin secretion (GO:0030073)|membrane depolarization during action potential (GO:0086010)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of blood pressure (GO:0008217)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of insulin secretion (GO:0050796)|regulation of organ growth (GO:0046620)|regulation of vasoconstriction (GO:0019229)|small molecule metabolic process (GO:0044281)|smooth muscle contraction involved in micturition (GO:0060083)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	caveolar macromolecular signaling complex (GO:0002095)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|voltage-gated calcium channel complex (GO:0005891)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|calmodulin binding (GO:0005516)|high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Drotaverine(DB06751)|Felodipine(DB01023)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	TTGATATTGTTTTTACCACCA	0.493																																																	0													182.0	186.0	185.0					12																	2706419		1875	4102	5977	SO:0001819	synonymous_variant	775			AF070589	CCDS44787.1, CCDS44788.1, CCDS44789.1, CCDS44790.1, CCDS44791.1, CCDS44792.1, CCDS44793.1, CCDS44794.1, CCDS44795.1, CCDS44796.1, CCDS44797.1, CCDS44798.1, CCDS44799.1, CCDS44800.1, CCDS44801.1, CCDS53733.1, CCDS53734.1, CCDS53735.1, CCDS53736.1	12p13.3	2014-09-17			ENSG00000151067	ENSG00000151067		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1390	protein-coding gene	gene with protein product		114205		CCHL1A1, CACNL1A1		1650913, 16382099	Standard	NM_001129832		Approved	Cav1.2, CACH2, CACN2, TS, LQT8	uc001qjy.3	Q13936	OTTHUMG00000150243	ENST00000347598.4:c.2817T>G	12.37:g.2706419T>G		Somatic		WXS	Illumina HiSeq	Phase_IV	B2RUT3|E9PDJ0|Q13917|Q13918|Q13919|Q13920|Q13921|Q13922|Q13923|Q13924|Q13925|Q13926|Q13927|Q13928|Q13929|Q13930|Q13932|Q13933|Q14743|Q14744|Q15877|Q4VMI7|Q4VMI8|Q4VMI9|Q6PKM7|Q8N6C0|Q99025|Q99241|Q99875	Silent	SNP	pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCC_L_a1csu,prints_VDCCAlpha1,prints_VDCC_L_a1su	p.V939	ENST00000347598.4	37	c.2817	CCDS44788.1	12																																																																																			CACNA1C	-	pfam_Ion_trans_dom		0.493	CACNA1C-017	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	CACNA1C	HGNC	protein_coding	OTTHUMT00000317035.1	T	NM_000719		2706419	+1	no_errors	ENST00000399634	ensembl	human	known	70_37	silent	SNP	1.000	G
CACNA1E	777	genome.wustl.edu	37	1	181706769	181706769	+	Silent	SNP	G	G	T			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr1:181706769G>T	ENST00000367573.2	+	23	3531	c.3531G>T	c.(3529-3531)ctG>ctT	p.L1177L	CACNA1E_ENST00000357570.5_Silent_p.L1128L|CACNA1E_ENST00000526775.1_Silent_p.L1158L|CACNA1E_ENST00000367567.4_Silent_p.L784L|CACNA1E_ENST00000367570.1_Silent_p.L1177L|CACNA1E_ENST00000360108.3_Silent_p.L1158L|CACNA1E_ENST00000358338.5_Silent_p.L1109L	NM_001205293.1	NP_001192222.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	1177					calcium ion import (GO:0070509)|energy reserve metabolic process (GO:0006112)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|voltage-gated calcium channel activity (GO:0005245)			NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						ACCCCGTCCTGACCAACTCGG	0.612																																																	0													97.0	103.0	101.0					1																	181706769		2061	4220	6281	SO:0001819	synonymous_variant	777			AK096563	CCDS53443.1, CCDS55664.1, CCDS55665.1	1q25.3	2013-01-10	2007-02-16		ENSG00000198216	ENSG00000198216		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"", ""EF-hand domain containing"""	1392	protein-coding gene	gene with protein product		601013		CACNL1A6		8388125, 16382099	Standard	NM_001205293		Approved	Cav2.3, BII, CACH6	uc009wxt.3	Q15878	OTTHUMG00000037301	ENST00000367573.2:c.3531G>T	1.37:g.181706769G>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B1AM12|B1AM13|B1AM14|Q14580|Q14581	Silent	SNP	pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,pfscan_EF_HAND_2,prints_VDCCAlpha1,prints_VDCC_R_a1su	p.L1177	ENST00000367573.2	37	c.3531	CCDS55664.1	1																																																																																			CACNA1E	-	NULL		0.612	CACNA1E-003	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	CACNA1E	HGNC	protein_coding	OTTHUMT00000090793.2	G	NM_000721		181706769	+1	no_errors	ENST00000367573	ensembl	human	known	70_37	silent	SNP	0.974	T
CACNA1S	779	genome.wustl.edu	37	1	201030548	201030548	+	Missense_Mutation	SNP	G	G	C			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr1:201030548G>C	ENST00000362061.3	-	25	3328	c.3102C>G	c.(3100-3102)atC>atG	p.I1034M	CACNA1S_ENST00000367338.3_Missense_Mutation_p.I1034M	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type, alpha 1S subunit	1034	Dihydropyridine binding. {ECO:0000250}.				axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transport (GO:0006816)|endoplasmic reticulum organization (GO:0007029)|extraocular skeletal muscle development (GO:0002074)|membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|myoblast fusion (GO:0007520)|neuromuscular junction development (GO:0007528)|skeletal muscle adaptation (GO:0043501)|skeletal muscle fiber development (GO:0048741)|skeletal system development (GO:0001501)|striated muscle contraction (GO:0006941)	cytoplasm (GO:0005737)|I band (GO:0031674)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	GGTTGTTGTAGATGGGACCCA	0.527																																																	0													196.0	165.0	176.0					1																	201030548		2203	4300	6503	SO:0001583	missense	779			L33798	CCDS1407.1	1q32	2012-03-07			ENSG00000081248	ENSG00000081248		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1397	protein-coding gene	gene with protein product		114208		HOKPP, MHS5, CACNL1A3		7916735, 16382099	Standard	NM_000069		Approved	Cav1.1, hypoPP	uc001gvv.3	Q13698	OTTHUMG00000035784	ENST00000362061.3:c.3102C>G	1.37:g.201030548G>C	ENSP00000355192:p.Ile1034Met	Somatic		WXS	Illumina HiSeq	Phase_IV	A4IF51|B1ALM2|Q12896|Q13934	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_VDCC_a1su_IQ,pfam_PKD1_2_channel,prints_VDCCAlpha1,prints_VDCC_L_a1su,prints_VDCC_L_a1ssu	p.I1034M	ENST00000362061.3	37	c.3102	CCDS1407.1	1	.	.	.	.	.	.	.	.	.	.	G	12.23	1.874319	0.33069	.	.	ENSG00000081248	ENST00000362061;ENST00000367338	D;D	0.96554	-4.05;-3.96	5.21	0.814	0.18756	Ion transport (1);	0.404030	0.29376	N	0.012335	D	0.93805	0.8019	M	0.75884	2.315	0.25394	N	0.988509	B	0.14438	0.01	B	0.24848	0.056	D	0.87817	0.2635	10	0.72032	D	0.01	.	2.9889	0.05977	0.1549:0.2551:0.459:0.131	.	1034	Q13698	CAC1S_HUMAN	M	1034	ENSP00000355192:I1034M;ENSP00000356307:I1034M	ENSP00000355192:I1034M	I	-	3	3	CACNA1S	199297171	1.000000	0.71417	0.845000	0.33349	0.829000	0.46940	1.109000	0.31135	0.196000	0.20367	0.561000	0.74099	ATC	CACNA1S	-	pfam_Ion_trans_dom		0.527	CACNA1S-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CACNA1S	HGNC	protein_coding	OTTHUMT00000087049.1	G	NM_000069		201030548	-1	no_errors	ENST00000362061	ensembl	human	known	70_37	missense	SNP	0.997	C
CACNA2D3	55799	genome.wustl.edu	37	3	55052341	55052341	+	Missense_Mutation	SNP	C	C	T			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr3:55052341C>T	ENST00000474759.1	+	35	3032	c.2984C>T	c.(2983-2985)tCc>tTc	p.S995F	CACNA2D3_ENST00000288197.5_Missense_Mutation_p.S995F|CACNA2D3_ENST00000490478.1_Missense_Mutation_p.S901F|CACNA2D3_ENST00000478261.1_3'UTR|CACNA2D3_ENST00000415676.2_Missense_Mutation_p.S995F	NM_018398.2	NP_060868.2	Q8IZS8	CA2D3_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 3	995						integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(17)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(3)	59				KIRC - Kidney renal clear cell carcinoma(284;0.00287)|Kidney(284;0.00327)	Amlodipine(DB00381)|Nilvadipine(DB06712)|Spironolactone(DB00421)	GAAGACTGCTCCAAGTAAGCC	0.507																																																	0													74.0	73.0	73.0					3																	55052341		1965	4161	6126	SO:0001583	missense	55799			AJ272268	CCDS54598.1	3p21.1	2010-10-05	2008-02-26		ENSG00000157445	ENSG00000157445		"""Calcium channel subunits"""	15460	protein-coding gene	gene with protein product		606399				11245980	Standard	XM_005265318		Approved	HSA272268	uc003dhf.3	Q8IZS8	OTTHUMG00000158580	ENST00000474759.1:c.2984C>T	3.37:g.55052341C>T	ENSP00000419101:p.Ser995Phe	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RPL6|Q9NY16|Q9NY18	Missense_Mutation	SNP	pfam_VWA_N,pfam_Cache_domain,pfam_VWF_A,smart_VWF_A,pfscan_VWF_A	p.S995F	ENST00000474759.1	37	c.2984	CCDS54598.1	3	.	.	.	.	.	.	.	.	.	.	C	11.06	1.527538	0.27299	.	.	ENSG00000157445	ENST00000415676;ENST00000474759;ENST00000288197;ENST00000490478;ENST00000398624	T;T;T;T	0.54479	0.57;0.57;0.57;0.57	5.4	4.52	0.55395	.	0.205843	0.43110	D	0.000605	T	0.25975	0.0633	N	0.03608	-0.345	0.32631	N	0.521995	B	0.06786	0.001	B	0.04013	0.001	T	0.16012	-1.0417	10	0.54805	T	0.06	.	6.0063	0.19549	0.0:0.7935:0.0:0.2065	.	995	Q8IZS8	CA2D3_HUMAN	F	995;995;995;901;901	ENSP00000389506:S995F;ENSP00000419101:S995F;ENSP00000288197:S995F;ENSP00000417279:S901F	ENSP00000288197:S995F	S	+	2	0	CACNA2D3	55027381	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	5.495000	0.66912	2.522000	0.85027	0.563000	0.77884	TCC	CACNA2D3	-	NULL		0.507	CACNA2D3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CACNA2D3	HGNC	protein_coding	OTTHUMT00000351402.1	C			55052341	+1	no_errors	ENST00000288197	ensembl	human	known	70_37	missense	SNP	1.000	T
CACNB4	785	genome.wustl.edu	37	2	152717265	152717265	+	Missense_Mutation	SNP	C	C	G			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr2:152717265C>G	ENST00000539935.1	-	10	895	c.828G>C	c.(826-828)aaG>aaC	p.K276N	CACNB4_ENST00000534999.1_Missense_Mutation_p.K242N|CACNB4_ENST00000397327.2_Missense_Mutation_p.K229N|CACNB4_ENST00000201943.5_Missense_Mutation_p.K276N|CACNB4_ENST00000360283.6_Missense_Mutation_p.K243N|CACNB4_ENST00000427385.1_Missense_Mutation_p.K258N	NM_000726.3|NM_001145798.1	NP_000717.2|NP_001139270.1	O00305	CACB4_HUMAN	calcium channel, voltage-dependent, beta 4 subunit	276					adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|calcium ion transmembrane transport (GO:0070588)|cAMP metabolic process (GO:0046058)|cellular calcium ion homeostasis (GO:0006874)|detection of light stimulus involved in visual perception (GO:0050908)|gamma-aminobutyric acid secretion (GO:0014051)|gamma-aminobutyric acid signaling pathway (GO:0007214)|membrane depolarization (GO:0051899)|muscle fiber development (GO:0048747)|neuromuscular junction development (GO:0007528)|neuronal action potential propagation (GO:0019227)|Peyer's patch development (GO:0048541)|regulation of voltage-gated calcium channel activity (GO:1901385)|spleen development (GO:0048536)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|T cell receptor signaling pathway (GO:0050852)|thymus development (GO:0048538)|transport (GO:0006810)	cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|plasma membrane (GO:0005886)|synapse (GO:0045202)|voltage-gated calcium channel complex (GO:0005891)	voltage-gated calcium channel activity (GO:0005245)			endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)	11				BRCA - Breast invasive adenocarcinoma(221;0.156)	Dronedarone(DB04855)|Nimodipine(DB00393)|Spironolactone(DB00421)|Verapamil(DB00661)	TTATTGCTCTCTTGCTGGGAT	0.443																																																	0													169.0	160.0	163.0					2																	152717265		1885	4119	6004	SO:0001583	missense	785			AF038852	CCDS46426.1, CCDS46427.1, CCDS46428.1, CCDS54409.1	2q22-q23	2009-09-04			ENSG00000182389	ENSG00000182389		"""Calcium channel subunits"""	1404	protein-coding gene	gene with protein product		601949				9628818	Standard	NM_000726		Approved	EJM4	uc002tya.3	O00305	OTTHUMG00000155091	ENST00000539935.1:c.828G>C	2.37:g.152717265C>G	ENSP00000438949:p.Lys276Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	A7BJ74|A8K1Y4|B4DG40|O60515|Q6B000|Q96L40	Missense_Mutation	SNP	pfam_Guanylate_kin,pfam_VDCC_L_bsu,superfamily_SH3_domain,smart_Guanylate_kin/L-typ_Ca_channel,pfscan_SH3_domain,prints_VDCC_L_bsu	p.K277N	ENST00000539935.1	37	c.831	CCDS46426.1	2	.	.	.	.	.	.	.	.	.	.	C	20.5	4.003197	0.74932	.	.	ENSG00000182389	ENST00000539935;ENST00000360283;ENST00000543269;ENST00000439467;ENST00000534999;ENST00000397327;ENST00000427385;ENST00000201943;ENST00000339254	D;D;D;D;D;D;D	0.82081	-1.57;-1.57;-1.57;-1.57;-1.57;-1.57;-1.57	5.82	4.05	0.47172	Guanylate kinase/L-type calcium channel (1);Guanylate kinase (1);	0.000000	0.85682	D	0.000000	D	0.91123	0.7205	M	0.85630	2.765	0.80722	D	1	D;D;D;D	0.69078	0.997;0.997;0.992;0.997	D;D;P;D	0.83275	0.994;0.996;0.903;0.993	D	0.91462	0.5190	10	0.66056	D	0.02	-22.1884	12.8824	0.58024	0.0:0.8804:0.0:0.1196	.	276;276;258;242	A7BJ74;O00305;B4DG40;O00305-2	.;CACB4_HUMAN;.;.	N	276;243;233;271;242;229;258;276;277	ENSP00000438949:K276N;ENSP00000353425:K243N;ENSP00000390161:K271N;ENSP00000443893:K242N;ENSP00000380490:K229N;ENSP00000410978:K258N;ENSP00000201943:K276N	ENSP00000201943:K276N	K	-	3	2	CACNB4	152425511	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	4.064000	0.57506	0.820000	0.34516	-1.028000	0.02416	AAG	CACNB4	-	pfam_Guanylate_kin,smart_Guanylate_kin/L-typ_Ca_channel		0.443	CACNB4-001	KNOWN	basic|CCDS	protein_coding	CACNB4	HGNC	protein_coding	OTTHUMT00000338385.4	C	NM_000726.3		152717265	-1	no_errors	ENST00000339254	ensembl	human	known	70_37	missense	SNP	1.000	G
CACUL1	143384	genome.wustl.edu	37	10	120460911	120460911	+	Missense_Mutation	SNP	A	A	G			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr10:120460911A>G	ENST00000369151.3	-	5	1186	c.703T>C	c.(703-705)Tac>Cac	p.Y235H	CACUL1_ENST00000340214.4_Missense_Mutation_p.Y235H|CACUL1_ENST00000544392.1_5'UTR	NM_153810.4	NP_722517.3	Q86Y37	CACL1_HUMAN	CDK2-associated, cullin domain 1	235					G1/S transition of mitotic cell cycle (GO:0000082)|positive regulation of cell proliferation (GO:0008284)|positive regulation of protein kinase activity (GO:0045860)|ubiquitin-dependent protein catabolic process (GO:0006511)	cullin-RING ubiquitin ligase complex (GO:0031461)	protein kinase binding (GO:0019901)										GTTTCGATGTAAAACTTATTC	0.299																																																	0													92.0	82.0	85.0					10																	120460911		1809	4061	5870	SO:0001583	missense	143384			AK097728	CCDS41570.1	10q26.13	2012-06-12	2012-06-12	2012-06-12	ENSG00000151893	ENSG00000151893			23727	protein-coding gene	gene with protein product	"""Cdk-Associated Cullin1"""		"""chromosome 10 open reading frame 46"""	C10orf46		19829063	Standard	NM_153810		Approved	FLJ40409, MGC33215, CAC1	uc001lds.1	Q86Y37	OTTHUMG00000019138	ENST00000369151.3:c.703T>C	10.37:g.120460911A>G	ENSP00000358147:p.Tyr235His	Somatic		WXS	Illumina HiSeq	Phase_IV	Q5XPL7|Q8IY11|Q8N7S4	Missense_Mutation	SNP	pfam_Cullin_N,superfamily_Cullin_repeat-like_dom	p.Y235H	ENST00000369151.3	37	c.703	CCDS41570.1	10	.	.	.	.	.	.	.	.	.	.	A	25.5	4.640427	0.87859	.	.	ENSG00000151893	ENST00000544392;ENST00000369156;ENST00000369151;ENST00000340214	T;T	0.78003	-1.14;-1.14	5.6	5.6	0.85130	Cullin, N-terminal (1);Cullin repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	D	0.86994	0.6067	M	0.65498	2.005	0.58432	D	0.999999	D	0.89917	1.0	D	0.91635	0.999	D	0.88316	0.2959	10	0.87932	D	0	-13.7549	16.0618	0.80841	1.0:0.0:0.0:0.0	.	235	Q86Y37	CJ046_HUMAN	H	46;112;235;235	ENSP00000358147:Y235H;ENSP00000342487:Y235H	ENSP00000342487:Y235H	Y	-	1	0	C10orf46	120450901	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.910000	0.92685	2.252000	0.74401	0.533000	0.62120	TAC	CACUL1	-	pfam_Cullin_N,superfamily_Cullin_repeat-like_dom		0.299	CACUL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CACUL1	HGNC	protein_coding	OTTHUMT00000050612.2	A	NM_153810		120460911	-1	no_errors	ENST00000369151	ensembl	human	known	70_37	missense	SNP	1.000	G
CAD	790	genome.wustl.edu	37	2	27444186	27444186	+	Missense_Mutation	SNP	T	T	A			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr2:27444186T>A	ENST00000403525.1	+	3	467	c.323T>A	c.(322-324)cTg>cAg	p.L108Q	CAD_ENST00000264705.4_Missense_Mutation_p.L108Q			O76075	DFFB_HUMAN	carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase	0					apoptotic chromosome condensation (GO:0030263)|apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|brain development (GO:0007420)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)	cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	deoxyribonuclease activity (GO:0004536)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)			NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	92	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CATGAGTGGCTGCAGCAGCAT	0.572																																																	0													43.0	36.0	38.0					2																	27444186		2203	4300	6503	SO:0001583	missense	790			D78586	CCDS1742.1	2p22-p21	2012-10-02			ENSG00000084774	ENSG00000084774	2.1.3.2, 3.5.2.-		1424	protein-coding gene	gene with protein product		114010				8619816, 2565865	Standard	NM_004341		Approved		uc002rji.3	P27708	OTTHUMG00000097070	ENST00000403525.1:c.323T>A	2.37:g.27444186T>A	ENSP00000384510:p.Leu108Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	O60521|Q5SR22|Q9BYI4|Q9BYI5|Q9BYI6	Missense_Mutation	SNP	pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_CarbamoylP_synth_ssu_N,pfam_Asp/Orn_carbamoyltranf_P-bd,pfam_GATASE_1,pfam_Asp_carbamoyltransf_Asp/Orn-bd,pfam_CarbamoylP_synth_lsu_oligo,pfam_CarbamoylP_synth_lsu_N,pfam_ATP-grasp_carboxylate-amine,pfam_MGS-like_dom,pfam_Dala_Dala_lig_C,pfam_Amidohydro_1,superfamily_Asp/Orn_carbamoylTrfase,superfamily_CarbamoylP_synth_lsu_oligo,superfamily_CarbamoylP_synth_ssu_N,superfamily_PreATP-grasp_fold,superfamily_MGS-like_dom,superfamily_Metal-dep_hydrolase_composite,smart_MGS-like_dom,pfscan_ATP-grasp,prints_CbamoylP_synth_lsu_CPSase_dom,prints_Asp_carbamoyltransf,prints_Asp/Orn_carbamoylTrfase,tigrfam_CarbamoylP_synth_lsu,tigrfam_CarbamoylP_synth_ssu,tigrfam_Asp_carbamoyltransf	p.L108Q	ENST00000403525.1	37	c.323		2	.	.	.	.	.	.	.	.	.	.	T	23.0	4.356445	0.82243	.	.	ENSG00000084774	ENST00000264705;ENST00000403525	D;D	0.96856	-4.15;-4.15	5.19	5.19	0.71726	Carbamoyl-phosphate synthase, small subunit, N-terminal (3);	0.080496	0.51477	D	0.000093	D	0.98915	0.9632	H	0.98701	4.305	0.58432	D	0.999999	D;P	0.89917	1.0;0.873	D;P	0.85130	0.997;0.63	D	0.99116	1.0848	10	0.87932	D	0	-0.3319	13.2885	0.60258	0.0:0.0:0.0:1.0	.	108;108	F8VPD4;P27708	.;PYR1_HUMAN	Q	108	ENSP00000264705:L108Q;ENSP00000384510:L108Q	ENSP00000264705:L108Q	L	+	2	0	CAD	27297690	1.000000	0.71417	1.000000	0.80357	0.889000	0.51656	7.270000	0.78493	2.090000	0.63153	0.459000	0.35465	CTG	CAD	-	pfam_CarbamoylP_synth_ssu_N,superfamily_CarbamoylP_synth_ssu_N,tigrfam_CarbamoylP_synth_ssu		0.572	CAD-002	NOVEL	basic|exp_conf	protein_coding	CAD	HGNC	protein_coding	OTTHUMT00000324970.1	T			27444186	+1	no_errors	ENST00000264705	ensembl	human	known	70_37	missense	SNP	1.000	A
CAD	790	genome.wustl.edu	37	2	27461354	27461354	+	Missense_Mutation	SNP	C	C	T			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr2:27461354C>T	ENST00000403525.1	+	30	4871	c.4727C>T	c.(4726-4728)gCt>gTt	p.A1576V	CAD_ENST00000264705.4_Missense_Mutation_p.A1639V			O76075	DFFB_HUMAN	carbamoyl-phosphate synthetase 2, aspartate transcarbamylase, and dihydroorotase	0					apoptotic chromosome condensation (GO:0030263)|apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|brain development (GO:0007420)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)	cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	deoxyribonuclease activity (GO:0004536)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)			NS(1)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(40)|ovary(6)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	92	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGCGAGGTGGCTCCCCACCAC	0.617																																																	0													84.0	89.0	87.0					2																	27461354		2203	4300	6503	SO:0001583	missense	790			D78586	CCDS1742.1	2p22-p21	2012-10-02			ENSG00000084774	ENSG00000084774	2.1.3.2, 3.5.2.-		1424	protein-coding gene	gene with protein product		114010				8619816, 2565865	Standard	NM_004341		Approved		uc002rji.3	P27708	OTTHUMG00000097070	ENST00000403525.1:c.4727C>T	2.37:g.27461354C>T	ENSP00000384510:p.Ala1576Val	Somatic		WXS	Illumina HiSeq	Phase_IV	O60521|Q5SR22|Q9BYI4|Q9BYI5|Q9BYI6	Missense_Mutation	SNP	pfam_CbamoylP_synth_lsu-like_ATP-bd,pfam_CarbamoylP_synth_ssu_N,pfam_Asp/Orn_carbamoyltranf_P-bd,pfam_GATASE_1,pfam_Asp_carbamoyltransf_Asp/Orn-bd,pfam_CarbamoylP_synth_lsu_oligo,pfam_CarbamoylP_synth_lsu_N,pfam_ATP-grasp_carboxylate-amine,pfam_MGS-like_dom,pfam_Dala_Dala_lig_C,pfam_Amidohydro_1,superfamily_Asp/Orn_carbamoylTrfase,superfamily_CarbamoylP_synth_lsu_oligo,superfamily_CarbamoylP_synth_ssu_N,superfamily_PreATP-grasp_fold,superfamily_MGS-like_dom,superfamily_Metal-dep_hydrolase_composite,smart_MGS-like_dom,pfscan_ATP-grasp,prints_CbamoylP_synth_lsu_CPSase_dom,prints_Asp_carbamoyltransf,prints_Asp/Orn_carbamoylTrfase,tigrfam_CarbamoylP_synth_lsu,tigrfam_CarbamoylP_synth_ssu,tigrfam_Asp_carbamoyltransf	p.A1639V	ENST00000403525.1	37	c.4916		2	.	.	.	.	.	.	.	.	.	.	C	32	5.131967	0.94473	.	.	ENSG00000084774	ENST00000264705;ENST00000403525	D;D	0.98296	-4.85;-4.8	4.94	4.94	0.65067	.	0.050482	0.85682	D	0.000000	D	0.98729	0.9573	M	0.85373	2.75	0.80722	D	1	P;D	0.57257	0.887;0.979	P;P	0.58721	0.596;0.844	D	0.99433	1.0936	10	0.56958	D	0.05	0.697	16.753	0.85492	0.0:1.0:0.0:0.0	.	1576;1639	F8VPD4;P27708	.;PYR1_HUMAN	V	1639;1576	ENSP00000264705:A1639V;ENSP00000384510:A1576V	ENSP00000264705:A1639V	A	+	2	0	CAD	27314858	1.000000	0.71417	0.943000	0.38184	0.680000	0.39746	7.421000	0.80204	2.292000	0.77174	0.561000	0.74099	GCT	CAD	-	NULL		0.617	CAD-002	NOVEL	basic|exp_conf	protein_coding	CAD	HGNC	protein_coding	OTTHUMT00000324970.1	C			27461354	+1	no_errors	ENST00000264705	ensembl	human	known	70_37	missense	SNP	0.999	T
CAMSAP3	57662	genome.wustl.edu	37	19	7675783	7675783	+	Missense_Mutation	SNP	G	G	A			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr19:7675783G>A	ENST00000160298.4	+	8	1116	c.1015G>A	c.(1015-1017)Gag>Aag	p.E339K	CAMSAP3_ENST00000446248.2_Missense_Mutation_p.E366K	NM_020902.1	NP_065953.1	Q9P1Y5	CAMP3_HUMAN	calmodulin regulated spectrin-associated protein family, member 3	339					epithelial cell-cell adhesion (GO:0090136)|microtubule anchoring (GO:0034453)|microtubule cytoskeleton organization (GO:0000226)|negative regulation of phosphatase activity (GO:0010923)|regulation of microtubule cytoskeleton organization (GO:0070507)|regulation of organelle organization (GO:0033043)|zonula adherens maintenance (GO:0045218)	cytoplasm (GO:0005737)|microtubule minus-end (GO:0036449)|zonula adherens (GO:0005915)	microtubule minus-end binding (GO:0051011)			cervix(1)|endometrium(7)|kidney(3)|lung(6)|urinary_tract(2)	19						CCGGGGCACTGAGGCCTCCCC	0.687																																																	0													49.0	56.0	53.0					19																	7675783		1980	4151	6131	SO:0001583	missense	57662			AB040976	CCDS42489.1, CCDS45947.1	19p13.3-p13.2	2014-06-12	2011-08-18	2011-08-18		ENSG00000076826			29307	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 80"""	612685	"""KIAA1543"""	KIAA1543		11318610, 10819331, 19041755, 19508979	Standard	NM_001080429		Approved	Nezha, PPP1R80	uc002mgu.4	Q9P1Y5		ENST00000160298.4:c.1015G>A	19.37:g.7675783G>A	ENSP00000160298:p.Glu339Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q8NDF1	Missense_Mutation	SNP	pfam_CKK_domain,pfam_CAMSAP_CH,pfam_CH-domain,superfamily_PRC_barrell-like,superfamily_CH-domain	p.E366K	ENST00000160298.4	37	c.1096	CCDS42489.1	19	.	.	.	.	.	.	.	.	.	.	g	2.473	-0.321453	0.05386	.	.	ENSG00000076826	ENST00000446248;ENST00000160298	T;T	0.13901	2.55;2.56	4.68	4.68	0.58851	.	1.111380	0.06640	N	0.760895	T	0.15652	0.0377	L	0.29908	0.895	0.28078	N	0.932324	P;P	0.52316	0.704;0.952	B;P	0.49085	0.119;0.6	T	0.01007	-1.1483	10	0.07030	T	0.85	-29.7812	12.9754	0.58534	0.0:0.0:1.0:0.0	.	339;366	Q9P1Y5;Q9P1Y5-2	CAMP3_HUMAN;.	K	366;339	ENSP00000416797:E366K;ENSP00000160298:E339K	ENSP00000160298:E339K	E	+	1	0	KIAA1543	7581783	0.987000	0.35691	0.928000	0.36995	0.038000	0.13279	2.949000	0.49074	2.430000	0.82344	0.643000	0.83706	GAG	CAMSAP3	-	NULL		0.687	CAMSAP3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	CAMSAP3	HGNC	protein_coding	OTTHUMT00000459300.1	G	XM_048362		7675783	+1	no_errors	ENST00000446248	ensembl	human	known	70_37	missense	SNP	0.931	A
CANT1	124583	genome.wustl.edu	37	17	76993650	76993650	+	Missense_Mutation	SNP	G	G	A	rs548806863		TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr17:76993650G>A	ENST00000302345.2	-	2	549	c.55C>T	c.(55-57)Cgg>Tgg	p.R19W	CANT1_ENST00000591732.1_5'Flank|CANT1_ENST00000591773.1_Missense_Mutation_p.R19W|CANT1_ENST00000392446.5_Missense_Mutation_p.R19W	NM_001159773.1|NM_138793.3	NP_001153245.1|NP_620148.1	Q8WVQ1	CANT1_HUMAN	calcium activated nucleotidase 1	19					positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|proteoglycan biosynthetic process (GO:0030166)|signal transduction (GO:0007165)	endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|signal transducer activity (GO:0004871)|uridine-diphosphatase activity (GO:0045134)		CANT1/ETV4(3)	cervix(1)|endometrium(1)|large_intestine(2)|lung(10)|prostate(1)|skin(1)	16			BRCA - Breast invasive adenocarcinoma(99;0.0362)|OV - Ovarian serous cystadenocarcinoma(97;0.139)			ACACTGATCCGGAGGGAGTGC	0.647			T	ETV4	prostate								G|||	1	0.000199681	0.0	0.0	5008	,	,		12801	0.0		0.001	False		,,,				2504	0.0							Dom	yes		17	17q25	124583	calcium activated nucleotidase 1		E	0													21.0	21.0	21.0					17																	76993650		2203	4298	6501	SO:0001583	missense	124583			AJ312208	CCDS11760.1	17q25.3	2008-02-05	2004-10-12	2004-10-15		ENSG00000171302			19721	protein-coding gene	gene with protein product	"""Soluble Ca-Activated Nucleotidase, isozyme 1"""	613165				12167635	Standard	NM_138793		Approved	SHAPY, SCAN-1	uc002jwk.3	Q8WVQ1		ENST00000302345.2:c.55C>T	17.37:g.76993650G>A	ENSP00000307674:p.Arg19Trp	Somatic		WXS	Illumina HiSeq	Phase_IV	B4DJ54|Q7Z2J7|Q8NG05|Q8NHP0|Q9BSD5	Missense_Mutation	SNP	pfam_Apyrase,superfamily_Apyrase	p.R19W	ENST00000302345.2	37	c.55	CCDS11760.1	17	.	.	.	.	.	.	.	.	.	.	G	25.7	4.663015	0.88251	.	.	ENSG00000171302	ENST00000302345;ENST00000392446;ENST00000537282;ENST00000339300	D;D	0.87412	-2.25;-2.25	5.09	4.12	0.48240	.	0.112719	0.64402	N	0.000013	D	0.85695	0.5756	L	0.34521	1.04	0.54753	D	0.999983	D	0.89917	1.0	P	0.56088	0.791	D	0.85594	0.1248	10	0.87932	D	0	-30.4546	8.3032	0.32027	0.0801:0.0:0.7656:0.1543	.	19	Q8WVQ1	CANT1_HUMAN	W	19	ENSP00000307674:R19W;ENSP00000376241:R19W	ENSP00000307674:R19W	R	-	1	2	CANT1	74505245	1.000000	0.71417	0.998000	0.56505	0.973000	0.67179	5.583000	0.67484	1.138000	0.42230	0.555000	0.69702	CGG	CANT1	-	NULL		0.647	CANT1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	CANT1	HGNC	protein_coding	OTTHUMT00000437723.2	G	NM_138793		76993650	-1	no_errors	ENST00000302345	ensembl	human	known	70_37	missense	SNP	1.000	A
CAPN6	827	genome.wustl.edu	37	X	110494902	110494902	+	Missense_Mutation	SNP	C	C	T			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chrX:110494902C>T	ENST00000324068.1	-	6	935	c.768G>A	c.(766-768)atG>atA	p.M256I	CAPN6_ENST00000541758.1_Start_Codon_SNP_p.M1I	NM_014289.3	NP_055104.2	Q9Y6Q1	CAN6_HUMAN	calpain 6	256	Calpain catalytic. {ECO:0000255|PROSITE- ProRule:PRU00239}.				microtubule bundle formation (GO:0001578)|proteolysis (GO:0006508)|regulation of cytoskeleton organization (GO:0051493)	perinuclear region of cytoplasm (GO:0048471)|spindle microtubule (GO:0005876)	calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|microtubule binding (GO:0008017)			cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(25)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	47						GAATATCAGTCATGGTATAGG	0.463																																																	0													292.0	285.0	287.0					X																	110494902		2203	4300	6503	SO:0001583	missense	827			AF029232	CCDS14555.1	Xq23	2008-07-29			ENSG00000077274	ENSG00000077274			1483	protein-coding gene	gene with protein product		300146				9503024, 9339374	Standard	NM_014289		Approved	CAPNX, CalpM, CANPX	uc004epc.2	Q9Y6Q1	OTTHUMG00000022203	ENST00000324068.1:c.768G>A	X.37:g.110494902C>T	ENSP00000317214:p.Met256Ile	Somatic		WXS	Illumina HiSeq	Phase_IV	D3DUY7|Q9UEQ1|Q9UJA8	Missense_Mutation	SNP	pfam_Peptidase_C2_calpain_cat,pfam_Calpain_domain_III,pfam_C2_Ca-dep,superfamily_Calpain_domain_III,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_Peptidase_C2_calpain_cat,smart_Calpain_III,smart_C2_Ca-dep,pfscan_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease	p.M256I	ENST00000324068.1	37	c.768	CCDS14555.1	X	.	.	.	.	.	.	.	.	.	.	C	13.83	2.354771	0.41700	.	.	ENSG00000077274	ENST00000324068;ENST00000541758	T;D	0.85171	1.47;-1.95	6.17	5.3	0.74995	Peptidase C2, calpain, catalytic domain (3);	0.230215	0.48767	D	0.000172	T	0.53867	0.1823	N	0.00073	-2.26	0.80722	D	1	B	0.15141	0.012	B	0.01281	0.0	T	0.60642	-0.7223	10	0.23302	T	0.38	.	14.943	0.71009	0.0:0.9292:0.0:0.0708	.	256	Q9Y6Q1	CAN6_HUMAN	I	256;1	ENSP00000317214:M256I;ENSP00000441736:M1I	ENSP00000317214:M256I	M	-	3	0	CAPN6	110381558	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	1.707000	0.37888	2.618000	0.88619	0.600000	0.82982	ATG	CAPN6	-	pfam_Peptidase_C2_calpain_cat,smart_Peptidase_C2_calpain_cat,pfscan_Peptidase_C2_calpain_cat		0.463	CAPN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CAPN6	HGNC	protein_coding	OTTHUMT00000057922.1	C			110494902	-1	no_errors	ENST00000324068	ensembl	human	known	70_37	missense	SNP	1.000	T
CAPRIN1	4076	genome.wustl.edu	37	11	34120902	34120902	+	Silent	SNP	G	G	A			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr11:34120902G>A	ENST00000341394.4	+	19	2307	c.2118G>A	c.(2116-2118)caG>caA	p.Q706Q	CAPRIN1_ENST00000532820.1_Silent_p.Q706Q|CAPRIN1_ENST00000529307.1_Silent_p.Q625Q|CAPRIN1_ENST00000533657.1_3'UTR	NM_005898.4	NP_005889.3	Q14444	CAPR1_HUMAN	cell cycle associated protein 1	706					negative regulation of translation (GO:0017148)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of dendritic spine morphogenesis (GO:0061003)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytoplasmic stress granule (GO:0010494)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(1)	18		Acute lymphoblastic leukemia(5;0.00045)|all_hematologic(20;0.0016)				TGAACACTCAGCAAGTGAATT	0.378																																																	0													79.0	73.0	75.0					11																	34120902		2202	4298	6500	SO:0001819	synonymous_variant	4076			BC001731	CCDS31453.1, CCDS31454.1	11p13	2010-08-03	2007-03-27	2007-03-27	ENSG00000135387	ENSG00000135387			6743	protein-coding gene	gene with protein product	"""cytoplasmic activation/proliferation-associated protein-1"""	601178	"""membrane component, chromosome 11, surface marker 1"", ""GPI-anchored membrane protein 1"""	M11S1, GPIAP1		7657653, 16177067, 17210633, 14764709, 15471883	Standard	NM_005898		Approved	caprin-1, RNG105	uc001mvh.1	Q14444	OTTHUMG00000166248	ENST00000341394.4:c.2118G>A	11.37:g.34120902G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	A6NMY7|D3DR06|Q15074|Q6IMN4|Q6IMN7|Q9BV09	Silent	SNP	pfam_Caprin-1_C	p.Q706	ENST00000341394.4	37	c.2118	CCDS31453.1	11																																																																																			CAPRIN1	-	NULL		0.378	CAPRIN1-001	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	CAPRIN1	HGNC	protein_coding	OTTHUMT00000388680.2	G	NM_005898		34120902	+1	no_errors	ENST00000341394	ensembl	human	known	70_37	silent	SNP	1.000	A
CAPZA1	829	genome.wustl.edu	37	1	113189878	113189878	+	Missense_Mutation	SNP	T	T	G			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr1:113189878T>G	ENST00000263168.3	+	2	758	c.86T>G	c.(85-87)tTt>tGt	p.F29C	CAPZA1_ENST00000476936.1_3'UTR	NM_006135.2	NP_006126.1	P52907	CAZA1_HUMAN	capping protein (actin filament) muscle Z-line, alpha 1	29					actin cytoskeleton organization (GO:0030036)|actin filament capping (GO:0051693)|blood coagulation (GO:0007596)|cellular component movement (GO:0006928)|innate immune response (GO:0045087)|protein complex assembly (GO:0006461)	actin cytoskeleton (GO:0015629)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|F-actin capping protein complex (GO:0008290)|WASH complex (GO:0071203)	actin binding (GO:0003779)			breast(1)|kidney(2)|large_intestine(2)|lung(3)|prostate(1)	9	Lung SC(450;0.246)	all_cancers(81;1.44e-07)|all_epithelial(167;7.64e-07)|all_lung(203;2.16e-05)|Lung NSC(69;3.86e-05)		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CCAGGGGAATTTAATGAAGTA	0.318																																																	0													93.0	101.0	98.0					1																	113189878		2203	4300	6503	SO:0001583	missense	829			U56637	CCDS30805.1	1p13.2	2014-05-09			ENSG00000116489	ENSG00000116489			1488	protein-coding gene	gene with protein product		601580				7665558, 9119363	Standard	NM_006135		Approved		uc001ecj.1	P52907	OTTHUMG00000011769	ENST00000263168.3:c.86T>G	1.37:g.113189878T>G	ENSP00000263168:p.Phe29Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q53FQ6|Q6FHD5	Missense_Mutation	SNP	pfam_WASH_F-actin_cap_alpha,prints_WASH_F-actin_cap_alpha	p.F29C	ENST00000263168.3	37	c.86	CCDS30805.1	1	.	.	.	.	.	.	.	.	.	.	T	24.1	4.492725	0.84962	.	.	ENSG00000116489	ENST00000263168	.	.	.	5.68	5.68	0.88126	.	0.000000	0.85682	D	0.000000	T	0.81903	0.4921	M	0.88105	2.93	0.58432	D	0.999999	D	0.71674	0.998	D	0.79108	0.992	D	0.85784	0.1363	9	0.87932	D	0	-33.9092	15.8935	0.79318	0.0:0.0:0.0:1.0	.	29	P52907	CAZA1_HUMAN	C	29	.	ENSP00000263168:F29C	F	+	2	0	CAPZA1	112991401	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.558000	0.82253	2.288000	0.76882	0.528000	0.53228	TTT	CAPZA1	-	pfam_WASH_F-actin_cap_alpha		0.318	CAPZA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CAPZA1	HGNC	protein_coding	OTTHUMT00000032567.2	T	NM_006135		113189878	+1	no_errors	ENST00000263168	ensembl	human	known	70_37	missense	SNP	1.000	G
CAPZA2	830	genome.wustl.edu	37	7	116544251	116544251	+	Silent	SNP	C	C	T			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr7:116544251C>T	ENST00000361183.3	+	5	379	c.240C>T	c.(238-240)ggC>ggT	p.G80G	CAPZA2_ENST00000490693.1_Silent_p.G80G|CAPZA2_ENST00000458284.2_Silent_p.G80G	NM_006136.2	NP_006127.1	P47755	CAZA2_HUMAN	capping protein (actin filament) muscle Z-line, alpha 2	80					actin cytoskeleton organization (GO:0030036)|actin filament capping (GO:0051693)|blood coagulation (GO:0007596)|cellular component movement (GO:0006928)|innate immune response (GO:0045087)|protein complex assembly (GO:0006461)	actin cytoskeleton (GO:0015629)|cortical cytoskeleton (GO:0030863)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|F-actin capping protein complex (GO:0008290)|membrane (GO:0016020)|WASH complex (GO:0071203)				endometrium(2)|kidney(3)|large_intestine(4)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	13	all_cancers(3;8.53e-08)|all_epithelial(6;7.79e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)		GBM - Glioblastoma multiforme(2;5.01e-06)|STAD - Stomach adenocarcinoma(10;0.000512)|all cancers(2;0.00326)			CAGAACATGGCGACTTGGGAA	0.318																																																	0													83.0	83.0	83.0					7																	116544251		2203	4300	6503	SO:0001819	synonymous_variant	830				CCDS5768.1	7q31.2-q31.3	2008-07-18			ENSG00000198898	ENSG00000198898			1490	protein-coding gene	gene with protein product	"""F-actin capping protein alpha-2 subunit"""	601571					Standard	NM_006136		Approved	CAPZ, CAPPA2	uc003vil.3	P47755	OTTHUMG00000023185	ENST00000361183.3:c.240C>T	7.37:g.116544251C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B4DG50	Silent	SNP	pfam_WASH_F-actin_cap_alpha,prints_WASH_F-actin_cap_alpha	p.G80	ENST00000361183.3	37	c.240	CCDS5768.1	7																																																																																			CAPZA2	-	pfam_WASH_F-actin_cap_alpha		0.318	CAPZA2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CAPZA2	HGNC	protein_coding	OTTHUMT00000059506.4	C	NM_006136		116544251	+1	no_errors	ENST00000361183	ensembl	human	known	70_37	silent	SNP	0.855	T
CARKD	55739	genome.wustl.edu	37	13	111286919	111286919	+	Missense_Mutation	SNP	G	G	T	rs372292567		TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr13:111286919G>T	ENST00000309957.2	+	6	537	c.523G>T	c.(523-525)Gac>Tac	p.D175Y	CARKD_ENST00000470164.2_3'UTR|CARKD_ENST00000397191.4_Missense_Mutation_p.D112Y|CARKD_ENST00000458711.2_Missense_Mutation_p.D44Y|CARKD_ENST00000424185.2_Missense_Mutation_p.D65Y	NM_001242881.1|NM_018210.3	NP_001229810.1|NP_060680.2			carbohydrate kinase domain containing											NS(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(6)|ovary(1)|prostate(2)|skin(1)	15						AAAGGCCAGGGACATCCCTGT	0.552																																																	0													177.0	148.0	158.0					13																	111286919		2203	4300	6503	SO:0001583	missense	55739			AF151071	CCDS9513.1, CCDS55903.1	13q34	2008-12-19			ENSG00000213995	ENSG00000213995			25576	protein-coding gene	gene with protein product		615910					Standard	NM_018210		Approved	LP3298, FLJ10769	uc001vrc.3	Q8IW45	OTTHUMG00000017345	ENST00000309957.2:c.523G>T	13.37:g.111286919G>T	ENSP00000311984:p.Asp175Tyr	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_YjeF_C_carb_kinase-rel,tigrfam_YjeF_C_carb_kinase-rel	p.D175Y	ENST00000309957.2	37	c.523	CCDS9513.1	13	.	.	.	.	.	.	.	.	.	.	G	16.49	3.136735	0.56936	.	.	ENSG00000213995	ENST00000458711;ENST00000424185;ENST00000439607;ENST00000397191;ENST00000309957	T;T;T;T	0.25085	1.82;1.82;1.87;1.82	5.03	5.03	0.67393	Uncharacterised domain, carbohydrate kinase-related (3);	0.424962	0.27100	N	0.020934	T	0.54208	0.1844	M	0.86028	2.79	0.45227	D	0.998235	D;D;D;D;D;P	0.67145	0.996;0.98;0.973;0.996;0.988;0.952	D;P;P;P;P;P	0.63381	0.914;0.844;0.852;0.879;0.854;0.796	T	0.63247	-0.6680	10	0.87932	D	0	-7.7257	17.1365	0.86742	0.0:0.0:1.0:0.0	.	44;65;157;112;175;175	B4DQR1;Q8IW45-4;B4DKX7;B7Z3Q0;Q8IW45-2;Q8IW45	.;.;.;.;.;CARKD_HUMAN	Y	44;65;157;112;175	ENSP00000412789:D44Y;ENSP00000413191:D65Y;ENSP00000380375:D112Y;ENSP00000311984:D175Y	ENSP00000311984:D175Y	D	+	1	0	CARKD	110084920	1.000000	0.71417	0.730000	0.30809	0.143000	0.21401	6.607000	0.74163	2.313000	0.78055	0.591000	0.81541	GAC	CARKD	-	pfam_YjeF_C_carb_kinase-rel,tigrfam_YjeF_C_carb_kinase-rel		0.552	CARKD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CARKD	HGNC	protein_coding	OTTHUMT00000045764.1	G	NM_018210		111286919	+1	no_errors	ENST00000309957	ensembl	human	known	70_37	missense	SNP	0.996	T
CARM1P1	100130873	genome.wustl.edu	37	9	2921851	2921851	+	RNA	SNP	C	C	G			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr9:2921851C>G	ENST00000408523.2	-	0	88																											TTCCAGCCATCAAAATCCTAA	0.373																																																	0																																												100130873																															9.37:g.2921851C>G		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000408523.2	37	NULL		9																																																																																			CARM1P1	-	-		0.373	AL589675.1-201	NOVEL	basic	miRNA	CARM1P1	HGNC	miRNA		C			2921851	-1	no_errors	ENST00000497195	ensembl	human	known	70_37	rna	SNP	1.000	G
CASK	8573	genome.wustl.edu	37	X	41379397	41379397	+	3'UTR	SNP	A	A	C			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chrX:41379397A>C	ENST00000378163.1	-	0	3531				CASK-AS1_ENST00000451126.1_RNA|CASK_ENST00000421587.2_3'UTR|CASK_ENST00000361962.4_3'UTR|CASK_ENST00000378158.1_3'UTR|CASK_ENST00000318588.9_3'UTR|CASK_ENST00000378166.4_3'UTR			O14936	CSKP_HUMAN	calcium/calmodulin-dependent serine protein kinase (MAGUK family)						calcium ion import (GO:0070509)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of cellular response to growth factor stimulus (GO:0090288)|negative regulation of keratinocyte proliferation (GO:0010839)|negative regulation of wound healing (GO:0061045)|nucleotide phosphorylation (GO:0046939)|positive regulation of calcium ion import (GO:0090280)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	actin cytoskeleton (GO:0015629)|basement membrane (GO:0005604)|basolateral plasma membrane (GO:0016323)|cell-cell junction (GO:0005911)|ciliary membrane (GO:0060170)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|nuclear lamina (GO:0005652)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	ATP binding (GO:0005524)|guanylate kinase activity (GO:0004385)|protein serine/threonine kinase activity (GO:0004674)			breast(3)|endometrium(5)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|ovary(3)|prostate(1)|stomach(1)	32						GATTTCCAAAAATATAACATT	0.249																																					NSCLC(42;104 1086 3090 27189 35040)												0																																										SO:0001624	3_prime_UTR_variant	100873928			AF035582	CCDS14257.1, CCDS48094.1, CCDS48095.1	Xp11.4	2010-02-09			ENSG00000147044	ENSG00000147044			1497	protein-coding gene	gene with protein product		300172	"""trinucleotide repeat containing 8"""	TNRC8		9722958	Standard	NM_003688		Approved	LIN2, CAGH39, FGS4	uc004dfl.4	O14936	OTTHUMG00000021378	ENST00000378163.1:c.*276T>G	X.37:g.41379397A>C		Somatic		WXS	Illumina HiSeq	Phase_IV	A6NES1|B7ZKY0|O43215|Q17RI4|Q59HA0|Q5VT16|Q5VT17|Q5VT18|Q5VT19|Q66T42|Q9BYH6|Q9NYB2|Q9NYB3	RNA	SNP	-	NULL	ENST00000378163.1	37	NULL		X																																																																																			CASK-AS1	-	-		0.249	CASK-007	KNOWN	basic|appris_candidate_longest	protein_coding	CASK-AS1	HGNC	protein_coding	OTTHUMT00000056285.1	A	NM_003688		41379397	+1	no_errors	ENST00000451126	ensembl	human	known	70_37	rna	SNP	1.000	C
CASK	8573	genome.wustl.edu	37	X	41390272	41390272	+	Silent	SNP	G	G	A	rs375734729		TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chrX:41390272G>A	ENST00000378163.1	-	25	2982	c.2508C>T	c.(2506-2508)gaC>gaT	p.D836D	CASK_ENST00000421587.2_Silent_p.D807D|CASK_ENST00000361962.4_Silent_p.D819D|CASK_ENST00000442742.2_Silent_p.D808D|CASK_ENST00000378158.1_Silent_p.D819D|CASK_ENST00000318588.9_Silent_p.D831D|CASK_ENST00000378166.4_Silent_p.D831D			O14936	CSKP_HUMAN	calcium/calmodulin-dependent serine protein kinase (MAGUK family)	836	Guanylate kinase-like. {ECO:0000255|PROSITE-ProRule:PRU00100}.				calcium ion import (GO:0070509)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of cellular response to growth factor stimulus (GO:0090288)|negative regulation of keratinocyte proliferation (GO:0010839)|negative regulation of wound healing (GO:0061045)|nucleotide phosphorylation (GO:0046939)|positive regulation of calcium ion import (GO:0090280)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	actin cytoskeleton (GO:0015629)|basement membrane (GO:0005604)|basolateral plasma membrane (GO:0016323)|cell-cell junction (GO:0005911)|ciliary membrane (GO:0060170)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|nuclear lamina (GO:0005652)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	ATP binding (GO:0005524)|guanylate kinase activity (GO:0004385)|protein serine/threonine kinase activity (GO:0004674)			breast(3)|endometrium(5)|kidney(1)|large_intestine(6)|liver(1)|lung(11)|ovary(3)|prostate(1)|stomach(1)	32						GAGGCTCCACGTCCAGTATTG	0.517																																					NSCLC(42;104 1086 3090 27189 35040)												0								G	,,	0,3835		0,0,1632,571	176.0	114.0	135.0		2424,2421,2493	-4.4	0.8	X		135	1,6727		0,1,2427,1872	no	coding-synonymous,coding-synonymous,coding-synonymous	CASK	NM_001126054.2,NM_001126055.2,NM_003688.3	,,	0,1,4059,2443	AA,AG,GG,G		0.0149,0.0,0.0095	,,	808/899,807/898,831/922	41390272	1,10562	2203	4300	6503	SO:0001819	synonymous_variant	8573			AF035582	CCDS14257.1, CCDS48094.1, CCDS48095.1	Xp11.4	2010-02-09			ENSG00000147044	ENSG00000147044			1497	protein-coding gene	gene with protein product		300172	"""trinucleotide repeat containing 8"""	TNRC8		9722958	Standard	NM_003688		Approved	LIN2, CAGH39, FGS4	uc004dfl.4	O14936	OTTHUMG00000021378	ENST00000378163.1:c.2508C>T	X.37:g.41390272G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	A6NES1|B7ZKY0|O43215|Q17RI4|Q59HA0|Q5VT16|Q5VT17|Q5VT18|Q5VT19|Q66T42|Q9BYH6|Q9NYB2|Q9NYB3	Silent	SNP	pfam_Prot_kinase_cat_dom,pfam_Guanylate_kin,pfam_L27_C,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_PDZ,pfam_SH3_2,pfam_SH3_domain,superfamily_Kinase-like_dom,superfamily_SH3_domain,superfamily_PDZ,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_L27,smart_PDZ,smart_SH3_domain,smart_Guanylate_kin/L-typ_Ca_channel,pfscan_L27,pfscan_PDZ,pfscan_SH3_domain,pfscan_Prot_kinase_cat_dom,pfscan_Guanylate_kin	p.D836	ENST00000378163.1	37	c.2508		X																																																																																			CASK	-	pfam_Guanylate_kin,smart_Guanylate_kin/L-typ_Ca_channel,pfscan_Guanylate_kin		0.517	CASK-007	KNOWN	basic|appris_candidate_longest	protein_coding	CASK	HGNC	protein_coding	OTTHUMT00000056285.1	G	NM_003688		41390272	-1	no_errors	ENST00000378163	ensembl	human	known	70_37	silent	SNP	0.545	A
CAT	847	genome.wustl.edu	37	11	34492955	34492955	+	Missense_Mutation	SNP	C	C	T	rs573379158		TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr11:34492955C>T	ENST00000241052.4	+	13	1648	c.1559C>T	c.(1558-1560)gCg>gTg	p.A520V	CAT_ENST00000534710.1_3'UTR	NM_001752.3	NP_001743.1	P04040	CATA_HUMAN	catalase	520				A -> V (in Ref. 3; AAK29181). {ECO:0000305}.	aerobic respiration (GO:0009060)|cellular response to growth factor stimulus (GO:0071363)|cholesterol metabolic process (GO:0008203)|hemoglobin metabolic process (GO:0020027)|hydrogen peroxide catabolic process (GO:0042744)|menopause (GO:0042697)|negative regulation of apoptotic process (GO:0043066)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|nucleobase-containing small molecule metabolic process (GO:0055086)|osteoblast differentiation (GO:0001649)|positive regulation of cell division (GO:0051781)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|protein homotetramerization (GO:0051289)|protein tetramerization (GO:0051262)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide catabolic process (GO:0006195)|response to hyperoxia (GO:0055093)|response to hypoxia (GO:0001666)|response to reactive oxygen species (GO:0000302)|response to vitamin E (GO:0033197)|small molecule metabolic process (GO:0044281)|triglyceride metabolic process (GO:0006641)|ureteric bud development (GO:0001657)|UV protection (GO:0009650)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|lysosome (GO:0005764)|membrane (GO:0016020)|mitochondrial intermembrane space (GO:0005758)|peroxisomal matrix (GO:0005782)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)|plasma membrane (GO:0005886)	aminoacylase activity (GO:0004046)|antioxidant activity (GO:0016209)|catalase activity (GO:0004096)|enzyme binding (GO:0019899)|heme binding (GO:0020037)|metal ion binding (GO:0046872)|NADP binding (GO:0050661)|oxidoreductase activity, acting on peroxide as acceptor (GO:0016684)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)			breast(1)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(6)|lung(5)|ovary(2)|pancreas(1)|stomach(1)|urinary_tract(3)	26		Lung NSC(402;2.76e-08)|Acute lymphoblastic leukemia(5;0.00143)|all_hematologic(20;0.0116)|Melanoma(852;0.027)		BRCA - Breast invasive adenocarcinoma(625;0.000995)	Fomepizole(DB01213)	TCTCACTTGGCGGCAAGGGAG	0.502													C|||	1	0.000199681	0.0	0.0	5008	,	,		17446	0.001		0.0	False		,,,				2504	0.0																0													118.0	110.0	113.0					11																	34492955		2202	4298	6500	SO:0001583	missense	847			AY028632	CCDS7891.1	11p13	2012-10-02			ENSG00000121691	ENSG00000121691	1.11.1.6		1516	protein-coding gene	gene with protein product		115500					Standard	NM_001752		Approved		uc001mvm.3	P04040	OTTHUMG00000044353	ENST00000241052.4:c.1559C>T	11.37:g.34492955C>T	ENSP00000241052:p.Ala520Val	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K6C0|B2RCZ9|D3DR07|Q2M1U4|Q4VXX5|Q9BWT9|Q9UC85	Missense_Mutation	SNP	pfam_Catalase_core,pfam_Catalase_immune_responsive,superfamily_Catalase-like_dom,prints_Catalase	p.A520V	ENST00000241052.4	37	c.1559	CCDS7891.1	11	.	.	.	.	.	.	.	.	.	.	C	11.90	1.776655	0.31411	.	.	ENSG00000121691	ENST00000241052	D	0.91577	-2.87	5.18	3.28	0.37604	.	0.597985	0.19142	N	0.121670	T	0.81221	0.4777	N	0.22421	0.69	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.65348	-0.6190	10	0.23302	T	0.38	-4.4672	7.5584	0.27837	0.0:0.744:0.1659:0.0901	.	520	P04040	CATA_HUMAN	V	520	ENSP00000241052:A520V	ENSP00000241052:A520V	A	+	2	0	CAT	34449531	0.712000	0.27916	0.001000	0.08648	0.006000	0.05464	2.134000	0.42102	0.671000	0.31185	-0.215000	0.12644	GCG	CAT	-	NULL		0.502	CAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CAT	HGNC	protein_coding	OTTHUMT00000103197.2	C	NM_001752		34492955	+1	no_errors	ENST00000241052	ensembl	human	known	70_37	missense	SNP	0.021	T
CATSPERG	57828	genome.wustl.edu	37	19	38857867	38857867	+	Silent	SNP	G	G	A	rs561919443		TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr19:38857867G>A	ENST00000409235.3	+	23	2800	c.2685G>A	c.(2683-2685)acG>acA	p.T895T	CATSPERG_ENST00000410018.1_Silent_p.T855T|CATSPERG_ENST00000215069.4_3'UTR	NM_021185.4	NP_067008.3	Q6ZRH7	CTSRG_HUMAN	catsper channel auxiliary subunit gamma	895					cell differentiation (GO:0030154)|multicellular organism reproduction (GO:0032504)|multicellular organismal development (GO:0007275)|single fertilization (GO:0007338)|sperm-egg recognition (GO:0035036)|spermatogenesis (GO:0007283)	CatSper complex (GO:0036128)|plasma membrane (GO:0005886)|sperm principal piece (GO:0097228)				breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(13)|ovary(1)|pancreas(2)|prostate(6)|skin(3)|stomach(1)|urinary_tract(2)	40						TCACCTACACGCTGGAATACA	0.572													G|||	1	0.000199681	0.0	0.0	5008	,	,		17642	0.0		0.0	False		,,,				2504	0.001																0													109.0	86.0	94.0					19																	38857867		2203	4300	6503	SO:0001819	synonymous_variant	57828			AK128220	CCDS12514.2	19q13.1	2014-05-13	2012-02-22	2009-07-17	ENSG00000099338	ENSG00000099338			25243	protein-coding gene	gene with protein product		613452	"""chromosome 19 open reading frame 15"", ""cation channel, sperm-associated, gamma"""	C19orf15		19516020	Standard	NM_021185		Approved	DKFZp434A1022, FLJ46353	uc002oih.4	Q6ZRH7	OTTHUMG00000153223	ENST00000409235.3:c.2685G>A	19.37:g.38857867G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	A6NEG6|Q659E1	Silent	SNP	NULL	p.T895	ENST00000409235.3	37	c.2685	CCDS12514.2	19																																																																																			CATSPERG	-	NULL		0.572	CATSPERG-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CATSPERG	HGNC	protein_coding	OTTHUMT00000330204.1	G	NM_021185		38857867	+1	no_errors	ENST00000409235	ensembl	human	known	70_37	silent	SNP	0.000	A
CBLB	868	genome.wustl.edu	37	3	105420966	105420966	+	Missense_Mutation	SNP	C	C	T	rs138175657		TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr3:105420966C>T	ENST00000264122.4	-	12	2252	c.1931G>A	c.(1930-1932)cGc>cAc	p.R644H	CBLB_ENST00000403724.1_Missense_Mutation_p.R644H|CBLB_ENST00000405772.1_Missense_Mutation_p.R644H|CBLB_ENST00000394027.3_Missense_Mutation_p.R666H	NM_170662.3	NP_733762.2	Q13191	CBLB_HUMAN	Cbl proto-oncogene B, E3 ubiquitin protein ligase	644	Pro-rich.				cell surface receptor signaling pathway (GO:0007166)|immune response (GO:0006955)|intracellular signal transduction (GO:0035556)|negative regulation of alpha-beta T cell proliferation (GO:0046642)|negative regulation of T cell receptor signaling pathway (GO:0050860)|NLS-bearing protein import into nucleus (GO:0006607)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of T cell anergy (GO:0002669)|signal transduction (GO:0007165)|T cell activation (GO:0042110)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|ligase activity (GO:0016874)|signal transducer activity (GO:0004871)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(2)|urinary_tract(2)	49						CAAATCATGGCGTCTGTGTTT	0.463			Mis S		AML								C|||	1	0.000199681	0.0	0.0	5008	,	,		18308	0.0		0.001	False		,,,				2504	0.0				GBM(93;588 1337 9788 29341 43499)			Rec	yes		3	3q13.11	868	Cas-Br-M (murine) ecotropic retroviral transforming sequence b		L	0								C	HIS/ARG	1,4405	2.1+/-5.4	0,1,2202	133.0	137.0	136.0		1931	5.7	1.0	3	dbSNP_134	136	1,8599	1.2+/-3.3	0,1,4299	no	missense	CBLB	NM_170662.3	29	0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154	probably-damaging	644/983	105420966	2,13004	2203	4300	6503	SO:0001583	missense	868			U26710	CCDS2948.1	3q	2013-07-09	2013-07-09		ENSG00000114423	ENSG00000114423		"""RING-type (C3HC4) zinc fingers"""	1542	protein-coding gene	gene with protein product		604491	"""Cas-Br-M (murine) ectropic retroviral transforming sequence b"", ""Cas-Br-M (murine) ecotropic retroviral transforming sequence b"""			7784085	Standard	XM_005247853		Approved	RNF56, Cbl-b	uc003dwc.3	Q13191	OTTHUMG00000150654	ENST00000264122.4:c.1931G>A	3.37:g.105420966C>T	ENSP00000264122:p.Arg644His	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K9S7|B7WNM4|Q13192|Q13193|Q3LIC0|Q63Z43|Q8IVC5	Missense_Mutation	SNP	pfam_Adaptor_Cbl_N_hlx,pfam_Adaptor_Cbl_SH2-like,pfam_Adaptor_Cbl_EF_hand-like,pfam_Znf_C3HC4_RING-type,pfam_UBA/transl_elong_EF1B_N,superfamily_Adaptor_Cbl_N_hlx,superfamily_UBA-like,smart_Znf_RING,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Znf_RING	p.R644H	ENST00000264122.4	37	c.1931	CCDS2948.1	3	.	.	.	.	.	.	.	.	.	.	C	15.57	2.872228	0.51695	2.27E-4	1.16E-4	ENSG00000114423	ENST00000394030;ENST00000264122;ENST00000394027;ENST00000403724;ENST00000405772	T;D;D;D;D	0.84589	-1.24;-1.84;-1.87;-1.87;-1.87	5.73	5.73	0.89815	.	0.547984	0.21598	N	0.071982	D	0.83575	0.5284	M	0.61703	1.905	0.80722	D	1	P;P;P	0.47106	0.824;0.89;0.882	B;B;B	0.37480	0.197;0.251;0.247	D	0.86466	0.1782	10	0.87932	D	0	-2.7999	18.0796	0.89438	0.0:1.0:0.0:0.0	.	666;644;644	E7ENW2;Q13191-3;Q13191	.;.;CBLB_HUMAN	H	27;644;666;644;644	ENSP00000377598:R27H;ENSP00000264122:R644H;ENSP00000377595:R666H;ENSP00000384816:R644H;ENSP00000384938:R644H	ENSP00000264122:R644H	R	-	2	0	CBLB	106903656	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	4.180000	0.58296	2.697000	0.92050	0.585000	0.79938	CGC	CBLB	-	NULL		0.463	CBLB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CBLB	HGNC	protein_coding	OTTHUMT00000319417.2	C	NM_170662		105420966	-1	no_errors	ENST00000264122	ensembl	human	known	70_37	missense	SNP	1.000	T
CC2D1A	54862	genome.wustl.edu	37	19	14024066	14024066	+	Missense_Mutation	SNP	G	G	T			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr19:14024066G>T	ENST00000318003.7	+	5	705	c.464G>T	c.(463-465)aGa>aTa	p.R155I	CC2D1A_ENST00000589606.1_Missense_Mutation_p.R155I	NM_017721.4	NP_060191.3	Q6P1N0	C2D1A_HUMAN	coiled-coil and C2 domain containing 1A	155					positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|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)|signal transducer activity (GO:0004871)			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(12)|prostate(2)|skin(2)	27			OV - Ovarian serous cystadenocarcinoma(19;3.49e-23)			GAAAGCGCCAGACAAGCTGGA	0.647																																																	0													25.0	30.0	29.0					19																	14024066		1995	4162	6157	SO:0001583	missense	54862			AF536205	CCDS42512.1	19p13.12	2007-01-08				ENSG00000132024			30237	protein-coding gene	gene with protein product	"""mental retardation, nonsyndromic, autosomal recessive, 3"""	610055				12761501, 16033914	Standard	NM_017721		Approved	FLJ20241, MRT3	uc002mxo.2	Q6P1N0		ENST00000318003.7:c.464G>T	19.37:g.14024066G>T	ENSP00000313601:p.Arg155Ile	Somatic		WXS	Illumina HiSeq	Phase_IV	Q7Z435|Q86XV0|Q8NF89|Q9H603|Q9NXI1	Missense_Mutation	SNP	pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_DM14,smart_C2_Ca-dep	p.R155I	ENST00000318003.7	37	c.464	CCDS42512.1	19	.	.	.	.	.	.	.	.	.	.	G	14.79	2.641200	0.47153	.	.	ENSG00000132024	ENST00000318003;ENST00000389233	T	0.22336	1.96	4.91	1.49	0.22878	Domain of unknown function DM14 (1);	0.103012	0.64402	D	0.000008	T	0.19167	0.0460	L	0.46157	1.445	0.46061	D	0.998845	P;P	0.46220	0.874;0.8	P;B	0.45071	0.468;0.259	T	0.02238	-1.1190	10	0.87932	D	0	-17.5525	5.6432	0.17575	0.4731:0.0:0.5269:0.0	.	155;155	Q6P1N0-2;Q6P1N0	.;C2D1A_HUMAN	I	155;130	ENSP00000313601:R155I	ENSP00000313601:R155I	R	+	2	0	CC2D1A	13885066	1.000000	0.71417	0.181000	0.23098	0.739000	0.42172	2.056000	0.41355	0.673000	0.31224	0.561000	0.74099	AGA	CC2D1A	-	smart_DM14		0.647	CC2D1A-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	CC2D1A	HGNC	protein_coding	OTTHUMT00000457954.1	G	NM_017721		14024066	+1	no_errors	ENST00000318003	ensembl	human	known	70_37	missense	SNP	0.983	T
CC2D1A	54862	genome.wustl.edu	37	19	14024406	14024406	+	Missense_Mutation	SNP	G	G	A			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr19:14024406G>A	ENST00000318003.7	+	6	944	c.703G>A	c.(703-705)Gcc>Acc	p.A235T	CC2D1A_ENST00000589606.1_Missense_Mutation_p.A235T	NM_017721.4	NP_060191.3	Q6P1N0	C2D1A_HUMAN	coiled-coil and C2 domain containing 1A	235	Pro-rich.				positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|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)|signal transducer activity (GO:0004871)			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(12)|prostate(2)|skin(2)	27			OV - Ovarian serous cystadenocarcinoma(19;3.49e-23)			TTCTGCCACCGCCCCAGCCTC	0.682																																																	0													22.0	27.0	25.0					19																	14024406		1939	4117	6056	SO:0001583	missense	54862			AF536205	CCDS42512.1	19p13.12	2007-01-08				ENSG00000132024			30237	protein-coding gene	gene with protein product	"""mental retardation, nonsyndromic, autosomal recessive, 3"""	610055				12761501, 16033914	Standard	NM_017721		Approved	FLJ20241, MRT3	uc002mxo.2	Q6P1N0		ENST00000318003.7:c.703G>A	19.37:g.14024406G>A	ENSP00000313601:p.Ala235Thr	Somatic		WXS	Illumina HiSeq	Phase_IV	Q7Z435|Q86XV0|Q8NF89|Q9H603|Q9NXI1	Missense_Mutation	SNP	pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_DM14,smart_C2_Ca-dep	p.A235T	ENST00000318003.7	37	c.703	CCDS42512.1	19	.	.	.	.	.	.	.	.	.	.	G	10.89	1.478056	0.26511	.	.	ENSG00000132024	ENST00000318003;ENST00000254346;ENST00000389233	T	0.22945	1.93	4.58	-2.15	0.07102	.	0.466505	0.22045	N	0.065394	T	0.10637	0.0260	N	0.19112	0.55	0.09310	N	1	B;B	0.13145	0.007;0.005	B;B	0.09377	0.004;0.001	T	0.29852	-0.9998	10	0.13470	T	0.59	-4.1984	5.3891	0.16234	0.2743:0.3908:0.3348:0.0	.	235;235	Q6P1N0-2;Q6P1N0	.;C2D1A_HUMAN	T	235;73;210	ENSP00000313601:A235T	ENSP00000254346:A73T	A	+	1	0	CC2D1A	13885406	0.000000	0.05858	0.001000	0.08648	0.036000	0.12997	0.143000	0.16115	-0.027000	0.13873	0.462000	0.41574	GCC	CC2D1A	-	NULL		0.682	CC2D1A-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	CC2D1A	HGNC	protein_coding	OTTHUMT00000457954.1	G	NM_017721		14024406	+1	no_errors	ENST00000318003	ensembl	human	known	70_37	missense	SNP	0.016	A
CC2D1A	54862	genome.wustl.edu	37	19	14040251	14040251	+	Missense_Mutation	SNP	G	G	A	rs377502758		TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr19:14040251G>A	ENST00000318003.7	+	25	2820	c.2579G>A	c.(2578-2580)cGg>cAg	p.R860Q	CC2D1A_ENST00000589606.1_Missense_Mutation_p.R859Q	NM_017721.4	NP_060191.3	Q6P1N0	C2D1A_HUMAN	coiled-coil and C2 domain containing 1A	860					positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|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)|signal transducer activity (GO:0004871)			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(12)|prostate(2)|skin(2)	27			OV - Ovarian serous cystadenocarcinoma(19;3.49e-23)			CGTCTGGAGCGGAAGGTGGGT	0.607																																																	0								G	GLN/ARG	0,3932		0,0,1966	93.0	96.0	95.0		2579	4.2	1.0	19		95	1,8293		0,1,4146	no	missense	CC2D1A	NM_017721.4	43	0,1,6112	AA,AG,GG		0.0121,0.0,0.0082	probably-damaging	860/952	14040251	1,12225	1966	4147	6113	SO:0001583	missense	54862			AF536205	CCDS42512.1	19p13.12	2007-01-08				ENSG00000132024			30237	protein-coding gene	gene with protein product	"""mental retardation, nonsyndromic, autosomal recessive, 3"""	610055				12761501, 16033914	Standard	NM_017721		Approved	FLJ20241, MRT3	uc002mxo.2	Q6P1N0		ENST00000318003.7:c.2579G>A	19.37:g.14040251G>A	ENSP00000313601:p.Arg860Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	Q7Z435|Q86XV0|Q8NF89|Q9H603|Q9NXI1	Missense_Mutation	SNP	pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_DM14,smart_C2_Ca-dep	p.R860Q	ENST00000318003.7	37	c.2579	CCDS42512.1	19	.	.	.	.	.	.	.	.	.	.	G	26.2	4.713082	0.89112	0.0	1.21E-4	ENSG00000132024	ENST00000318003;ENST00000254346	T	0.32023	1.47	5.32	4.22	0.49857	.	0.000000	0.85682	D	0.000000	T	0.40094	0.1103	L	0.53249	1.67	0.33982	D	0.648117	D;D;D	0.71674	0.996;0.991;0.998	P;P;P	0.54759	0.75;0.62;0.76	T	0.55444	-0.8140	10	0.62326	D	0.03	-32.3751	10.4216	0.44354	0.0:0.0:0.8052:0.1948	.	481;859;860	Q9NX28;Q6P1N0-2;Q6P1N0	.;.;C2D1A_HUMAN	Q	860;482	ENSP00000313601:R860Q	ENSP00000254346:R482Q	R	+	2	0	CC2D1A	13901251	1.000000	0.71417	1.000000	0.80357	0.872000	0.50106	3.454000	0.52986	2.486000	0.83907	0.491000	0.48974	CGG	CC2D1A	-	NULL		0.607	CC2D1A-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	CC2D1A	HGNC	protein_coding	OTTHUMT00000457954.1	G	NM_017721		14040251	+1	no_errors	ENST00000318003	ensembl	human	known	70_37	missense	SNP	1.000	A
CC2D1B	200014	genome.wustl.edu	37	1	52822066	52822066	+	Missense_Mutation	SNP	C	C	G			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr1:52822066C>G	ENST00000371586.2	-	17	2083	c.1945G>C	c.(1945-1947)Gag>Cag	p.E649Q	CC2D1B_ENST00000460261.1_5'UTR|RP11-155O18.6_ENST00000606527.1_RNA|CC2D1B_ENST00000284376.3_Missense_Mutation_p.E643Q|CC2D1B_ENST00000438831.1_Missense_Mutation_p.E24Q	NM_032449.2	NP_115825.1	Q5T0F9	C2D1B_HUMAN	coiled-coil and C2 domain containing 1B	649						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)			breast(1)|large_intestine(6)|lung(13)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	27						CGGGTGGTCTCAGCCACGTTG	0.567																																																	0													136.0	135.0	135.0					1																	52822066		2203	4300	6503	SO:0001583	missense	200014			AB058739	CCDS30714.1	1p32.3	2008-02-05			ENSG00000154222	ENSG00000154222			29386	protein-coding gene	gene with protein product						11347906	Standard	NM_032449		Approved	KIAA1836	uc001ctq.2	Q5T0F9	OTTHUMG00000008102	ENST00000371586.2:c.1945G>C	1.37:g.52822066C>G	ENSP00000360642:p.Glu649Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	Q49AE8|Q5T0F8|Q5T0G0|Q6ZNQ1|Q96AP3|Q96I04|Q96JJ1	Missense_Mutation	SNP	pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_DM14,smart_C2_Ca-dep	p.E649Q	ENST00000371586.2	37	c.1945	CCDS30714.1	1	.	.	.	.	.	.	.	.	.	.	C	26.7	4.762805	0.89932	.	.	ENSG00000154222	ENST00000371586;ENST00000284376;ENST00000371573;ENST00000438831	T;T;T	0.27256	1.68;1.68;1.68	5.09	5.09	0.68999	.	0.000000	0.85682	D	0.000000	T	0.50599	0.1625	M	0.72894	2.215	0.58432	D	0.999996	D;D;D	0.89917	0.999;1.0;0.999	D;D;D	0.87578	0.995;0.998;0.996	T	0.50591	-0.8810	10	0.62326	D	0.03	-22.8664	15.5236	0.75885	0.0:1.0:0.0:0.0	.	429;643;649	Q5T0G1;Q5T0F9-2;Q5T0F9	.;.;C2D1B_HUMAN	Q	649;643;557;24	ENSP00000360642:E649Q;ENSP00000284376:E643Q;ENSP00000406300:E24Q	ENSP00000284376:E643Q	E	-	1	0	CC2D1B	52594654	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	6.384000	0.73177	2.656000	0.90262	0.561000	0.74099	GAG	CC2D1B	-	NULL		0.567	CC2D1B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CC2D1B	HGNC	protein_coding	OTTHUMT00000022189.1	C	NM_032449		52822066	-1	no_errors	ENST00000371586	ensembl	human	known	70_37	missense	SNP	1.000	G
CC2D1B	200014	genome.wustl.edu	37	1	52826441	52826441	+	Intron	DEL	G	G	-			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr1:52826441delG	ENST00000371586.2	-	5	616				CC2D1B_ENST00000460261.1_Intron|CC2D1B_ENST00000284376.3_Intron|CC2D1B_ENST00000438831.1_Intron	NM_032449.2	NP_115825.1	Q5T0F9	C2D1B_HUMAN	coiled-coil and C2 domain containing 1B							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)			breast(1)|large_intestine(6)|lung(13)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	27						TATGGCTCCCGGGGGGTAGTC	0.597																																																	0																																										SO:0001627	intron_variant	200014			AB058739	CCDS30714.1	1p32.3	2008-02-05			ENSG00000154222	ENSG00000154222			29386	protein-coding gene	gene with protein product						11347906	Standard	NM_032449		Approved	KIAA1836	uc001ctq.2	Q5T0F9	OTTHUMG00000008102	ENST00000371586.2:c.477+204C>-	1.37:g.52826441delG		Somatic		WXS	Illumina HiSeq	Phase_IV	Q49AE8|Q5T0F8|Q5T0G0|Q6ZNQ1|Q96AP3|Q96I04|Q96JJ1	RNA	DEL	-	NULL	ENST00000371586.2	37	NULL	CCDS30714.1	1																																																																																			CC2D1B	-	-		0.597	CC2D1B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CC2D1B	HGNC	protein_coding	OTTHUMT00000022189.1	G	NM_032449		52826441	-1	no_errors	ENST00000491136	ensembl	human	known	70_37	rna	DEL	0.009	-
CCDC141	285025	genome.wustl.edu	37	2	179742638	179742638	+	Missense_Mutation	SNP	G	G	A			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr2:179742638G>A	ENST00000409284.1	-	12	2069	c.1952C>T	c.(1951-1953)tCa>tTa	p.S651L	CCDC141_ENST00000420890.2_Intron|CCDC141_ENST00000295723.5_Intron			Q6ZP82	CC141_HUMAN	coiled-coil domain containing 141	0										NS(2)|breast(1)|endometrium(5)|kidney(1)|large_intestine(17)|lung(37)|ovary(8)|pancreas(2)|skin(4)|upper_aerodigestive_tract(1)	78			OV - Ovarian serous cystadenocarcinoma(117;0.0274)|Epithelial(96;0.0531)|all cancers(119;0.147)			TTATTATTTTGACTTTGATGA	0.368																																																	0																																										SO:0001583	missense	285025			AK096821		2q31.2	2013-01-14			ENSG00000163492	ENSG00000163492		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	26821	protein-coding gene	gene with protein product	"""coiled-coil protein associated with myosin II and DISC1"""					20956536	Standard	NM_173648		Approved	FLJ39502, CAMDI	uc002une.2	Q6ZP82	OTTHUMG00000132578	ENST00000409284.1:c.1952C>T	2.37:g.179742638G>A	ENSP00000386503:p.Ser651Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	H7C0P1|J3KNW6|Q8N8H3	Missense_Mutation	SNP	pfam_Spectrin_repeat	p.S651L	ENST00000409284.1	37	c.1952		2	.	.	.	.	.	.	.	.	.	.	G	8.358	0.832480	0.16820	.	.	ENSG00000163492	ENST00000409284	.	.	.	5.32	4.43	0.53597	.	.	.	.	.	T	0.29093	0.0723	.	.	.	0.80722	D	1	B	0.27351	0.176	B	0.22386	0.039	T	0.06716	-1.0811	7	0.09084	T	0.74	.	7.0057	0.24836	0.0878:0.0:0.7387:0.1735	.	651	B8ZZB3	.	L	651	.	ENSP00000386503:S651L	S	-	2	0	CCDC141	179450883	0.973000	0.33851	0.947000	0.38551	0.104000	0.19210	1.054000	0.30455	1.217000	0.43442	0.585000	0.79938	TCA	CCDC141	-	NULL		0.368	CCDC141-003	PUTATIVE	basic	protein_coding	CCDC141	HGNC	protein_coding	OTTHUMT00000335873.1	G	NM_173648		179742638	-1	no_errors	ENST00000409284	ensembl	human	putative	70_37	missense	SNP	0.988	A
CCDC146	57639	genome.wustl.edu	37	7	76908107	76908107	+	Silent	SNP	G	G	A			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr7:76908107G>A	ENST00000285871.4	+	12	1606	c.1479G>A	c.(1477-1479)aaG>aaA	p.K493K	CCDC146_ENST00000431197.1_Silent_p.K207K|CCDC146_ENST00000415740.2_3'UTR	NM_020879.2	NP_065930.2	Q8IYE0	CC146_HUMAN	coiled-coil domain containing 146	493										breast(3)|central_nervous_system(3)|endometrium(1)|kidney(4)|large_intestine(7)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(2)	34		all_cancers(73;0.128)|all_lung(88;0.0986)|all_epithelial(88;0.163)|Myeloproliferative disorder(862;0.205)				TGAAAGCAAAGGATCTTGAAA	0.313																																																	0													71.0	68.0	69.0					7																	76908107		2202	4298	6500	SO:0001819	synonymous_variant	57639			BC029458	CCDS34671.1	7q11.23	2011-09-07			ENSG00000135205	ENSG00000135205			29296	protein-coding gene	gene with protein product						10819331	Standard	NM_020879		Approved	KIAA1505	uc003uga.3	Q8IYE0	OTTHUMG00000162595	ENST00000285871.4:c.1479G>A	7.37:g.76908107G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	A8K8X6|Q9P223	Silent	SNP	NULL	p.K493	ENST00000285871.4	37	c.1479	CCDS34671.1	7																																																																																			CCDC146	-	NULL		0.313	CCDC146-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC146	HGNC	protein_coding	OTTHUMT00000341449.1	G	NM_020879		76908107	+1	no_errors	ENST00000285871	ensembl	human	known	70_37	silent	SNP	1.000	A
CCDC151	115948	genome.wustl.edu	37	19	11531613	11531613	+	Missense_Mutation	SNP	C	C	T			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr19:11531613C>T	ENST00000356392.4	-	13	1765	c.1678G>A	c.(1678-1680)Gaa>Aaa	p.E560K	RGL3_ENST00000380456.3_5'Flank|CCDC151_ENST00000545100.1_Missense_Mutation_p.E506K|RGL3_ENST00000393423.3_5'Flank|CCDC151_ENST00000591179.1_Missense_Mutation_p.E500K|CCDC151_ENST00000586836.1_Missense_Mutation_p.E369K	NM_145045.4	NP_659482.3	A5D8V7	CC151_HUMAN	coiled-coil domain containing 151	560										endometrium(2)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)	12						TCACTCTCTTCGTCTAAGGGG	0.592																																																	0													78.0	85.0	83.0					19																	11531613		2023	4161	6184	SO:0001583	missense	115948				CCDS42501.1	19p13.2	2014-02-20				ENSG00000198003			28303	protein-coding gene	gene with protein product		615956				24067530	Standard	NM_145045		Approved	MGC20983	uc002mrs.3	A5D8V7		ENST00000356392.4:c.1678G>A	19.37:g.11531613C>T	ENSP00000348757:p.Glu560Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	B4DXT0|Q96CG5	Missense_Mutation	SNP	NULL	p.E560K	ENST00000356392.4	37	c.1678	CCDS42501.1	19	.	.	.	.	.	.	.	.	.	.	C	16.99	3.274333	0.59649	.	.	ENSG00000198003	ENST00000545100;ENST00000356392;ENST00000543934	T;T	0.16897	2.31;2.52	4.25	4.25	0.50352	.	0.000000	0.64402	D	0.000002	T	0.36635	0.0974	M	0.72894	2.215	0.45205	D	0.998216	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.83275	0.996;0.996;0.996	T	0.11275	-1.0594	10	0.19590	T	0.45	-25.3252	12.1521	0.54055	0.0:1.0:0.0:0.0	.	560;560;540	B3KPH7;A5D8V7;B4DG09	.;CC151_HUMAN;.	K	506;560;539	ENSP00000442987:E506K;ENSP00000348757:E560K	ENSP00000348757:E560K	E	-	1	0	CCDC151	11392613	1.000000	0.71417	0.911000	0.35937	0.027000	0.11550	4.137000	0.58010	1.927000	0.55829	0.561000	0.74099	GAA	CCDC151	-	NULL		0.592	CCDC151-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC151	HGNC	protein_coding	OTTHUMT00000458800.1	C	NM_145045		11531613	-1	no_errors	ENST00000356392	ensembl	human	known	70_37	missense	SNP	0.993	T
CCDC158	339965	genome.wustl.edu	37	4	77288844	77288844	+	Missense_Mutation	SNP	C	C	T	rs561723655		TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr4:77288844C>T	ENST00000388914.3	-	11	1585	c.1433G>A	c.(1432-1434)cGc>cAc	p.R478H		NM_001042784.1	NP_001036249.1	Q5M9N0	CD158_HUMAN	coiled-coil domain containing 158	478										breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(28)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|stomach(1)	56						TACTACTTTGCGCAGCATCTC	0.433													C|||	1	0.000199681	0.0	0.0	5008	,	,		19470	0.0		0.001	False		,,,				2504	0.0																0													69.0	67.0	67.0					4																	77288844		1893	4117	6010	SO:0001583	missense	339965			BC035224	CCDS43242.1	4q21.1	2009-04-06			ENSG00000163749	ENSG00000163749			26374	protein-coding gene	gene with protein product						12477932	Standard	NM_001042784		Approved	FLJ25770	uc003hkb.4	Q5M9N0	OTTHUMG00000160916	ENST00000388914.3:c.1433G>A	4.37:g.77288844C>T	ENSP00000373566:p.Arg478His	Somatic		WXS	Illumina HiSeq	Phase_IV	Q8IYQ1|Q8N7D4|Q8N7E3	Missense_Mutation	SNP	superfamily_Prefoldin	p.R478H	ENST00000388914.3	37	c.1433	CCDS43242.1	4	.	.	.	.	.	.	.	.	.	.	C	19.34	3.809252	0.70797	.	.	ENSG00000163749	ENST00000388914	T	0.78595	-1.19	5.71	5.71	0.89125	.	0.000000	0.56097	D	0.000021	T	0.72252	0.3437	N	0.19112	0.55	0.80722	D	1	P	0.51537	0.946	P	0.52598	0.703	T	0.70092	-0.4967	9	.	.	.	.	12.3218	0.54989	0.0:0.9204:0.0:0.0796	.	478	Q5M9N0	CD158_HUMAN	H	478	ENSP00000373566:R478H	.	R	-	2	0	CCDC158	77507868	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.944000	0.40263	2.711000	0.92665	0.563000	0.77884	CGC	CCDC158	-	NULL		0.433	CCDC158-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC158	HGNC	protein_coding	OTTHUMT00000362694.2	C	NM_001042784		77288844	-1	no_errors	ENST00000388914	ensembl	human	known	70_37	missense	SNP	1.000	T
CCDC171	203238	genome.wustl.edu	37	9	15727996	15727996	+	Missense_Mutation	SNP	G	G	C	rs576996401		TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr9:15727996G>C	ENST00000380701.3	+	15	2150	c.1822G>C	c.(1822-1824)Gat>Cat	p.D608H	CCDC171_ENST00000297641.3_Missense_Mutation_p.D608H	NM_173550.2	NP_775821.2	Q6TFL3	CC171_HUMAN	coiled-coil domain containing 171	608																	GGAGAATGTTGATGCCCTGAT	0.453																																																	0													144.0	121.0	129.0					9																	15727996		2203	4300	6503	SO:0001583	missense	203238			AY422473	CCDS6481.1	9p22.2	2012-03-26	2012-03-26	2012-03-26	ENSG00000164989	ENSG00000164989			29828	protein-coding gene	gene with protein product	"""myosin tail domain containing protein"""		"""chromosome 9 open reading frame 93"""	C9orf93		14702039	Standard	NM_173550		Approved	FLJ39267, FLJ46740, Em:AL513423.1, bA778P13.1, bA536D16.1	uc003zmd.3	Q6TFL3	OTTHUMG00000019584	ENST00000380701.3:c.1822G>C	9.37:g.15727996G>C	ENSP00000370077:p.Asp608His	Somatic		WXS	Illumina HiSeq	Phase_IV	B7ZM22|Q5SU58|Q6P1W1|Q6ZR13|Q8N1Z4|Q8N8L3|Q8TBR2	Missense_Mutation	SNP	superfamily_STAT_TF_coiled-coil	p.D608H	ENST00000380701.3	37	c.1822	CCDS6481.1	9	.	.	.	.	.	.	.	.	.	.	G	19.67	3.871755	0.72065	.	.	ENSG00000164989	ENST00000297641;ENST00000380701	T;T	0.56776	0.44;0.44	5.76	5.76	0.90799	.	0.101533	0.64402	D	0.000004	T	0.64125	0.2570	L	0.27053	0.805	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	T	0.66630	-0.5875	10	0.72032	D	0.01	-19.5706	19.9694	0.97278	0.0:0.0:1.0:0.0	.	616;608;608	B7ZM22;Q6TFL3-3;Q6TFL3	.;.;CI093_HUMAN	H	608	ENSP00000297641:D608H;ENSP00000370077:D608H	ENSP00000297641:D608H	D	+	1	0	C9orf93	15717996	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.688000	0.74557	2.719000	0.93026	0.655000	0.94253	GAT	CCDC171	-	NULL		0.453	CCDC171-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC171	HGNC	protein_coding	OTTHUMT00000051768.4	G	NM_173550		15727996	+1	no_errors	ENST00000380701	ensembl	human	known	70_37	missense	SNP	1.000	C
CCDC37	348807	genome.wustl.edu	37	3	126153218	126153218	+	Missense_Mutation	SNP	G	G	A			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr3:126153218G>A	ENST00000352312.1	+	15	1721	c.1622G>A	c.(1621-1623)cGc>cAc	p.R541H	CCDC37_ENST00000506204.1_3'UTR|CCDC37_ENST00000505024.1_Missense_Mutation_p.R542H|CCDC37_ENST00000393425.1_Missense_Mutation_p.R542H	NM_182628.2	NP_872434.2	Q494V2	CCD37_HUMAN	coiled-coil domain containing 37	541										NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|skin(3)	23				GBM - Glioblastoma multiforme(114;0.166)		AAGGAGCGGCGCATCAGGTGA	0.622																																																	0													40.0	42.0	41.0					3																	126153218		2203	4300	6503	SO:0001583	missense	348807			AK097402	CCDS3037.1	3q21.2	2014-07-31			ENSG00000163885	ENSG00000163885			26842	protein-coding gene	gene with protein product						23569216	Standard	NM_182628		Approved	FLJ40083, MIA1	uc003eiu.1	Q494V2	OTTHUMG00000162691	ENST00000352312.1:c.1622G>A	3.37:g.126153218G>A	ENSP00000344749:p.Arg541His	Somatic		WXS	Illumina HiSeq	Phase_IV	D3DNA8|Q494V1|Q494V4|Q8N838	Missense_Mutation	SNP	superfamily_SuperAg_toxin_C_Staph/Strep	p.R542H	ENST00000352312.1	37	c.1625	CCDS3037.1	3	.	.	.	.	.	.	.	.	.	.	G	16.42	3.117168	0.56505	.	.	ENSG00000163885	ENST00000352312;ENST00000393425;ENST00000505024	T;T;T	0.56444	0.48;0.46;0.46	4.92	4.92	0.64577	.	0.000000	0.85682	D	0.000000	T	0.76744	0.4030	M	0.88105	2.93	0.40088	D	0.976214	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	T	0.82786	-0.0285	10	0.87932	D	0	-7.3751	15.6117	0.76727	0.0:0.0:1.0:0.0	.	542;541	Q494V2-2;Q494V2	.;CCD37_HUMAN	H	541;542;542	ENSP00000344749:R541H;ENSP00000377076:R542H;ENSP00000423046:R542H	ENSP00000344749:R541H	R	+	2	0	CCDC37	127635908	0.999000	0.42202	0.155000	0.22561	0.178000	0.23041	4.641000	0.61375	2.265000	0.75225	0.467000	0.42956	CGC	CCDC37	-	NULL		0.622	CCDC37-001	KNOWN	basic|appris_candidate|exp_conf|CCDS	protein_coding	CCDC37	HGNC	protein_coding	OTTHUMT00000370099.4	G	NM_182628		126153218	+1	no_errors	ENST00000393425	ensembl	human	known	70_37	missense	SNP	0.477	A
CCDC47	57003	genome.wustl.edu	37	17	61831833	61831833	+	Missense_Mutation	SNP	G	G	A	rs555359336		TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr17:61831833G>A	ENST00000225726.5	-	9	1376	c.994C>T	c.(994-996)Cat>Tat	p.H332Y	CCDC47_ENST00000582252.1_Missense_Mutation_p.H332Y|RP11-51F16.8_ENST00000580553.1_5'Flank|CCDC47_ENST00000403162.3_Missense_Mutation_p.H332Y	NM_020198.2	NP_064583.2	Q96A33	CCD47_HUMAN	coiled-coil domain containing 47	332					calcium ion homeostasis (GO:0055074)|ER overload response (GO:0006983)|osteoblast differentiation (GO:0001649)|post-embryonic development (GO:0009791)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)|skin(2)|urinary_tract(1)	18						TCTGAAAAATGAACAGATTCA	0.299													G|||	1	0.000199681	0.0	0.0	5008	,	,		20546	0.0		0.0	False		,,,				2504	0.001																0													55.0	56.0	56.0					17																	61831833		2203	4300	6503	SO:0001583	missense	57003			AF226054	CCDS11643.1	17q23.3	2005-12-19				ENSG00000108588			24856	protein-coding gene	gene with protein product						12477932	Standard	NM_020198		Approved	GK001	uc002jbs.4	Q96A33		ENST00000225726.5:c.994C>T	17.37:g.61831833G>A	ENSP00000225726:p.His332Tyr	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RAS8|D3DU20|Q96D00|Q96JZ7|Q9H3E4|Q9NRG3	Missense_Mutation	SNP	pfam_DUF1682	p.H332Y	ENST00000225726.5	37	c.994	CCDS11643.1	17	.	.	.	.	.	.	.	.	.	.	G	16.23	3.064823	0.55432	.	.	ENSG00000108588	ENST00000225726;ENST00000403162	.	.	.	5.95	5.95	0.96441	.	0.041853	0.85682	D	0.000000	T	0.76442	0.3988	M	0.83118	2.625	0.80722	D	1	B;P	0.39404	0.435;0.672	B;P	0.49752	0.352;0.621	T	0.72097	-0.4393	9	0.02654	T	1	-20.9731	19.367	0.94468	0.0:0.0:1.0:0.0	.	332;332	Q96A33-2;Q96A33	.;CCD47_HUMAN	Y	332	.	ENSP00000225726:H332Y	H	-	1	0	CCDC47	59185565	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	9.857000	0.99534	2.826000	0.97356	0.563000	0.77884	CAT	CCDC47	-	pfam_DUF1682		0.299	CCDC47-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC47	HGNC	protein_coding	OTTHUMT00000444016.2	G	NM_020198		61831833	-1	no_errors	ENST00000225726	ensembl	human	known	70_37	missense	SNP	1.000	A
CCDC61	729440	genome.wustl.edu	37	19	46520259	46520259	+	Silent	SNP	C	C	T			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr19:46520259C>T	ENST00000595358.1	+	11	1291	c.1242C>T	c.(1240-1242)ttC>ttT	p.F414F	CCDC61_ENST00000594087.1_Silent_p.F234F|MIR769_ENST00000390225.1_RNA|CCDC61_ENST00000263284.2_Silent_p.F433F|CCDC61_ENST00000536603.1_Silent_p.F234F	NM_001267723.1	NP_001254652.1	Q9Y6R9	CCD61_HUMAN	coiled-coil domain containing 61	414						centrosome (GO:0005813)				endometrium(3)|kidney(3)|large_intestine(1)|lung(5)|ovary(1)	13		all_neural(266;0.113)|Ovarian(192;0.127)		OV - Ovarian serous cystadenocarcinoma(262;0.00221)|GBM - Glioblastoma multiforme(486;0.0233)|Epithelial(262;0.164)		TGGACAGTTTCCGCAGCCGCT	0.647											OREG0025565	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													18.0	19.0	19.0					19																	46520259		1900	4122	6022	SO:0001819	synonymous_variant	729440				CCDS46120.1, CCDS46120.2	19q13.32	2014-09-04			ENSG00000104983	ENSG00000104983			33629	protein-coding gene	gene with protein product							Standard	NM_001267723		Approved		uc031rlj.1	Q9Y6R9	OTTHUMG00000182488	ENST00000595358.1:c.1242C>T	19.37:g.46520259C>T		Somatic	939	WXS	Illumina HiSeq	Phase_IV	C8CAP4|Q9HDB6	Silent	SNP	NULL	p.F433	ENST00000595358.1	37	c.1299	CCDS46120.2	19																																																																																			CCDC61	-	NULL		0.647	CCDC61-001	NOVEL	basic|appris_principal|CCDS	protein_coding	CCDC61	HGNC	protein_coding	OTTHUMT00000461689.1	C	NM_001080402		46520259	+1	no_errors	ENST00000263284	ensembl	human	known	70_37	silent	SNP	0.998	T
CCDC74A	90557	genome.wustl.edu	37	2	132288337	132288337	+	Missense_Mutation	SNP	C	C	T	rs139046834	byFrequency	TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr2:132288337C>T	ENST00000295171.6	+	3	619	c.481C>T	c.(481-483)Cgc>Tgc	p.R161C	CCDC74A_ENST00000409856.3_Intron|CCDC74A_ENST00000467992.2_Missense_Mutation_p.R263C	NM_001258304.1|NM_001258305.1|NM_138770.2	NP_001245233.1|NP_001245234.1|NP_620125.1	Q96AQ1	CC74A_HUMAN	coiled-coil domain containing 74A	161										endometrium(4)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19						CGACACTGTGCGCTCTCCTGC	0.632													c|||	6	0.00119808	0.0	0.0029	5008	,	,		16198	0.0		0.004	False		,,,				2504	0.0																0								C	CYS/ARG	4,4400		0,4,2198	71.0	75.0	73.0		481	-1.0	0.0	2	dbSNP_134	73	36,8564		0,36,4264	no	missense	CCDC74A	NM_138770.1	180	0,40,6462	TT,TC,CC		0.4186,0.0908,0.3076	possibly-damaging	161/379	132288337	40,12964	2202	4300	6502	SO:0001583	missense	90557				CCDS2167.1, CCDS58732.1, CCDS74578.1	2q21.1	2008-02-05		2006-02-16	ENSG00000163040	ENSG00000163040			25197	protein-coding gene	gene with protein product						12477932	Standard	NM_138770		Approved	FLJ40345	uc002ttb.4	Q96AQ1	OTTHUMG00000131667	ENST00000295171.6:c.481C>T	2.37:g.132288337C>T	ENSP00000295171:p.Arg161Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q6P4I5	Missense_Mutation	SNP	NULL	p.R161C	ENST00000295171.6	37	c.481	CCDS2167.1	2	.	.	.	.	.	.	.	.	.	.	.	5.233	0.228432	0.09916	9.08E-4	0.004186	ENSG00000163040	ENST00000295171;ENST00000467992	T;T	0.52057	1.81;0.68	0.915	-0.982	0.10266	.	.	.	.	.	T	0.22282	0.0537	N	0.19112	0.55	0.09310	N	1	D	0.61080	0.989	B	0.34991	0.193	T	0.19031	-1.0318	9	0.72032	D	0.01	.	3.4598	0.07528	0.0:0.5299:0.0:0.4701	.	161	Q96AQ1	CC74A_HUMAN	C	161;263	ENSP00000295171:R161C;ENSP00000444610:R263C	ENSP00000295171:R161C	R	+	1	0	CCDC74A	132004807	0.000000	0.05858	0.020000	0.16555	0.131000	0.20780	-2.659000	0.00852	-0.309000	0.08779	0.194000	0.17425	CGC	CCDC74A	-	NULL		0.632	CCDC74A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CCDC74A	HGNC	protein_coding	OTTHUMT00000254570.2	C	NM_138770		132288337	+1	no_errors	ENST00000295171	ensembl	human	known	70_37	missense	SNP	0.042	T
CCDC91	55297	genome.wustl.edu	37	12	28412327	28412327	+	Nonsense_Mutation	SNP	G	G	T			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr12:28412327G>T	ENST00000545336.1	+	6	480	c.61G>T	c.(61-63)Gaa>Taa	p.E21*	CCDC91_ENST00000381256.1_Nonsense_Mutation_p.E21*|CCDC91_ENST00000539107.1_Nonsense_Mutation_p.E21*|CCDC91_ENST00000381259.1_Nonsense_Mutation_p.E21*			Q7Z6B0	CCD91_HUMAN	coiled-coil domain containing 91	21					protein transport (GO:0015031)	Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)				NS(1)|breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(8)|skin(1)	22	Acute lymphoblastic leukemia(23;0.00718)|all_hematologic(23;0.0113)|Lung SC(9;0.184)					TGGAAGTGGTGAAACCCAAAC	0.388																																																	0													148.0	129.0	135.0					12																	28412327		2203	4300	6503	SO:0001587	stop_gained	55297			AK093152	CCDS8716.1	12p11.22	2006-03-17				ENSG00000123106			24855	protein-coding gene	gene with protein product	"""GGA binding partner"""					12808037	Standard	XM_005253413		Approved	p56, FLJ11088, DKFZp779L1558	uc001riq.3	Q7Z6B0		ENST00000545336.1:c.61G>T	12.37:g.28412327G>T	ENSP00000438040:p.Glu21*	Somatic		WXS	Illumina HiSeq	Phase_IV	B3KSA3|C9JR07|Q68D43|Q6IA78|Q8NEN7|Q9NUW9	Nonsense_Mutation	SNP	NULL	p.E21*	ENST00000545336.1	37	c.61	CCDS8716.1	12	.	.	.	.	.	.	.	.	.	.	G	35	5.524036	0.96431	.	.	ENSG00000123106	ENST00000538586;ENST00000539107;ENST00000536442;ENST00000545336;ENST00000543534;ENST00000545737;ENST00000381259;ENST00000381256	.	.	.	5.57	5.57	0.84162	.	0.311442	0.27563	N	0.018814	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.56958	D	0.05	-4.7485	16.7057	0.85371	0.0:0.0:1.0:0.0	.	.	.	.	X	21	.	ENSP00000370655:E21X	E	+	1	0	CCDC91	28303594	1.000000	0.71417	0.543000	0.28128	0.758000	0.43043	6.244000	0.72391	2.602000	0.87976	0.655000	0.94253	GAA	CCDC91	-	NULL		0.388	CCDC91-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC91	HGNC	protein_coding	OTTHUMT00000402447.1	G	NM_018318		28412327	+1	no_errors	ENST00000381259	ensembl	human	known	70_37	nonsense	SNP	0.990	T
CCDC94	55702	genome.wustl.edu	37	19	4262097	4262097	+	Missense_Mutation	SNP	G	G	A	rs373312593		TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr19:4262097G>A	ENST00000262962.7	+	6	762	c.694G>A	c.(694-696)Gcc>Acc	p.A232T		NM_018074.4	NP_060544.2	Q9BW85	CCD94_HUMAN	coiled-coil domain containing 94	232										NS(1)|endometrium(1)|lung(2)|ovary(1)|stomach(2)	7				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0348)|STAD - Stomach adenocarcinoma(1328;0.183)		CAACCCCACCGCCATCCTGGA	0.597																																																	0													41.0	40.0	40.0					19																	4262097		2203	4300	6503	SO:0001583	missense	55702			AK001236	CCDS12124.1	19p13.3	2008-02-05				ENSG00000105248			25518	protein-coding gene	gene with protein product						12477932	Standard	NM_018074		Approved	FLJ10374	uc002lzv.4	Q9BW85		ENST00000262962.7:c.694G>A	19.37:g.4262097G>A	ENSP00000262962:p.Ala232Thr	Somatic		WXS	Illumina HiSeq	Phase_IV	O75270|Q9H862|Q9NW16	Missense_Mutation	SNP	pfam_CWC16	p.A232T	ENST00000262962.7	37	c.694	CCDS12124.1	19	.	.	.	.	.	.	.	.	.	.	G	11.32	1.603747	0.28534	.	.	ENSG00000105248	ENST00000262962	T	0.32023	1.47	4.69	2.58	0.30949	.	0.229124	0.42172	D	0.000751	T	0.22742	0.0549	L	0.48362	1.52	0.28616	N	0.908394	P	0.49090	0.919	B	0.41917	0.37	T	0.11941	-1.0567	10	0.13470	T	0.59	-26.5109	8.6465	0.34009	0.1867:0.0:0.8133:0.0	.	232	Q9BW85	CCD94_HUMAN	T	232	ENSP00000262962:A232T	ENSP00000262962:A232T	A	+	1	0	CCDC94	4213097	1.000000	0.71417	0.656000	0.29637	0.422000	0.31414	3.581000	0.53914	0.622000	0.30249	0.472000	0.43445	GCC	CCDC94	-	pfam_CWC16		0.597	CCDC94-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCDC94	HGNC	protein_coding	OTTHUMT00000458007.2	G	NM_018074		4262097	+1	no_errors	ENST00000262962	ensembl	human	known	70_37	missense	SNP	0.864	A
CCNB3	85417	genome.wustl.edu	37	X	50028145	50028145	+	5'UTR	SNP	G	G	A			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chrX:50028145G>A	ENST00000376042.1	+	0	280				CCNB3_ENST00000493507.1_3'UTR|CCNB3_ENST00000376038.1_5'UTR|CCNB3_ENST00000348603.2_5'UTR|CCNB3_ENST00000276014.7_5'UTR			Q8WWL7	CCNB3_HUMAN	cyclin B3						meiotic nuclear division (GO:0007126)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)	nucleus (GO:0005634)				breast(3)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(9)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Ovarian(276;0.236)					TGGACAAGACGCAGCTGAATC	0.453																																																	0													88.0	73.0	78.0					X																	50028145		2203	4300	6503	SO:0001623	5_prime_UTR_variant	85417			AJ314764	CCDS14331.1, CCDS14332.1	Xp11	2008-07-03			ENSG00000147082	ENSG00000147082			18709	protein-coding gene	gene with protein product		300456				11846420, 12185076	Standard	XM_006724610		Approved		uc004doy.3	Q8WWL7	OTTHUMG00000021519	ENST00000376042.1:c.-19G>A	X.37:g.50028145G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	B1AQI5|B1AQI6|Q96SB5|Q96SB6|Q96SB7|Q9NT38	RNA	SNP	-	NULL	ENST00000376042.1	37	NULL	CCDS14331.1	X																																																																																			CCNB3	-	-		0.453	CCNB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCNB3	HGNC	protein_coding	OTTHUMT00000056558.1	G			50028145	+1	no_errors	ENST00000491907	ensembl	human	known	70_37	rna	SNP	0.000	A
CCNT2	905	genome.wustl.edu	37	2	135711370	135711370	+	Missense_Mutation	SNP	G	G	C			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr2:135711370G>C	ENST00000264157.5	+	9	1375	c.1345G>C	c.(1345-1347)Gat>Cat	p.D449H	CCNT2_ENST00000295238.6_Missense_Mutation_p.D449H|CCNT2_ENST00000537343.1_Missense_Mutation_p.D274H	NM_001241.3|NM_058241.2	NP_001232.1|NP_490595.1	O60583	CCNT2_HUMAN	cyclin T2	449					cell cycle (GO:0007049)|cell division (GO:0051301)|gene expression (GO:0010467)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)				endometrium(2)|kidney(3)|large_intestine(10)|lung(6)|ovary(2)|prostate(1)|skin(1)	25				BRCA - Breast invasive adenocarcinoma(221;0.107)		AGAAACTCTTGATCTCGATGT	0.428																																																	0													54.0	56.0	55.0					2																	135711370		2203	4300	6503	SO:0001583	missense	905			AF048731	CCDS2174.1, CCDS2175.1	2q21.3	2010-11-15			ENSG00000082258	ENSG00000082258			1600	protein-coding gene	gene with protein product		603862				9499409, 10465067	Standard	NM_001241		Approved		uc002tuc.2	O60583	OTTHUMG00000131712	ENST00000264157.5:c.1345G>C	2.37:g.135711370G>C	ENSP00000264157:p.Asp449His	Somatic		WXS	Illumina HiSeq	Phase_IV	A8KA48|D3DP73|D3DP74|O60582|Q29R66|Q53SR4|Q5I1Y0	Missense_Mutation	SNP	pfam_Cyclin_N,superfamily_Cyclin-like,smart_Cyclin-like	p.D449H	ENST00000264157.5	37	c.1345	CCDS2174.1	2	.	.	.	.	.	.	.	.	.	.	G	12.87	2.067234	0.36470	.	.	ENSG00000082258	ENST00000537343;ENST00000295238;ENST00000264157	T;T	0.24151	1.88;1.87	5.71	5.71	0.89125	.	0.141884	0.64402	D	0.000006	T	0.31482	0.0798	N	0.22421	0.69	0.42411	D	0.9926	B;P;P	0.47409	0.32;0.661;0.895	B;B;P	0.50860	0.351;0.332;0.652	T	0.05517	-1.0880	10	0.87932	D	0	.	19.8769	0.96880	0.0:0.0:1.0:0.0	.	274;449;449	B4DH21;O60583;O60583-2	.;CCNT2_HUMAN;.	H	274;449;449	ENSP00000295238:D449H;ENSP00000264157:D449H	ENSP00000264157:D449H	D	+	1	0	CCNT2	135427840	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	6.728000	0.74769	2.712000	0.92718	0.650000	0.86243	GAT	CCNT2	-	NULL		0.428	CCNT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCNT2	HGNC	protein_coding	OTTHUMT00000254629.1	G	NM_058241		135711370	+1	no_errors	ENST00000264157	ensembl	human	known	70_37	missense	SNP	1.000	C
CCT3	7203	genome.wustl.edu	37	1	156288730	156288730	+	Missense_Mutation	SNP	G	G	A	rs375964353		TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr1:156288730G>A	ENST00000295688.3	-	8	968	c.688C>T	c.(688-690)Cgg>Tgg	p.R230W	CCT3_ENST00000472765.2_Missense_Mutation_p.R185W|CCT3_ENST00000368261.3_Missense_Mutation_p.R185W|CCT3_ENST00000368259.2_Missense_Mutation_p.R192W	NM_005998.4	NP_005989.3	P49368	TCPG_HUMAN	chaperonin containing TCP1, subunit 3 (gamma)	230					'de novo' posttranslational protein folding (GO:0051084)|binding of sperm to zona pellucida (GO:0007339)|cellular protein metabolic process (GO:0044267)|protein folding (GO:0006457)	cell body (GO:0044297)|chaperonin-containing T-complex (GO:0005832)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|zona pellucida receptor complex (GO:0002199)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|unfolded protein binding (GO:0051082)			endometrium(4)|large_intestine(1)|liver(1)|lung(11)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	22	Hepatocellular(266;0.158)					ATATAGCGCCGCATACGTGGA	0.463																																																	0								G	TRP/ARG,TRP/ARG	1,4405	2.1+/-5.4	0,1,2202	96.0	89.0	92.0		574,688	3.0	1.0	1		92	0,8600		0,0,4300	no	missense,missense	CCT3	NM_001008800.2,NM_005998.4	101,101	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging,probably-damaging	192/508,230/546	156288730	1,13005	2203	4300	6503	SO:0001583	missense	7203			BC008019	CCDS1140.2, CCDS30888.1	1q23	2011-09-02			ENSG00000163468	ENSG00000163468		"""Heat Shock Proteins / Chaperonins"""	1616	protein-coding gene	gene with protein product		600114		TRIC5		8110840	Standard	NM_005998		Approved	Cctg	uc001fol.2	P49368	OTTHUMG00000024061	ENST00000295688.3:c.688C>T	1.37:g.156288730G>A	ENSP00000295688:p.Arg230Trp	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NE14|Q5SZY1|Q9BR64	Missense_Mutation	SNP	pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,prints_Chaperone_TCP-1,prints_Chaprnin_Cpn60,tigrfam_Chap_CCT_gamma	p.R230W	ENST00000295688.3	37	c.688	CCDS1140.2	1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.046230	0.75846	2.27E-4	0.0	ENSG00000163468	ENST00000295688;ENST00000368259;ENST00000368261;ENST00000472765;ENST00000413555;ENST00000496684	T;T;T;T;T;T	0.79141	-1.24;-1.24;-1.24;-1.24;-1.24;-1.24	5.94	2.99	0.34606	.	0.062472	0.64402	D	0.000010	D	0.86552	0.5960	H	0.95328	3.655	0.52099	D	0.99994	D;D;D	0.89917	1.0;0.999;1.0	D;P;D	0.75484	0.921;0.878;0.986	D	0.86203	0.1620	10	0.72032	D	0.01	-5.9132	5.998	0.19505	0.1614:0.0:0.6878:0.1508	.	192;229;230	P49368-2;E9PAQ6;P49368	.;.;TCPG_HUMAN	W	230;192;185;185;254;229	ENSP00000295688:R230W;ENSP00000357242:R192W;ENSP00000357244:R185W;ENSP00000431543:R185W;ENSP00000413308:R254W;ENSP00000434232:R229W	ENSP00000295688:R230W	R	-	1	2	CCT3	154555354	1.000000	0.71417	1.000000	0.80357	0.717000	0.41224	3.423000	0.52756	0.823000	0.34589	0.643000	0.83706	CGG	CCT3	-	pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,tigrfam_Chap_CCT_gamma		0.463	CCT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCT3	HGNC	protein_coding	OTTHUMT00000060602.3	G	NM_005998		156288730	-1	no_errors	ENST00000295688	ensembl	human	known	70_37	missense	SNP	1.000	A
CCT6A	908	genome.wustl.edu	37	7	56124052	56124052	+	Missense_Mutation	SNP	G	G	A			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr7:56124052G>A	ENST00000275603.4	+	5	778	c.559G>A	c.(559-561)Gat>Aat	p.D187N	CCT6A_ENST00000540286.1_Missense_Mutation_p.D156N|CCT6A_ENST00000335503.3_Missense_Mutation_p.D142N|SNORA22_ENST00000383876.1_RNA	NM_001762.3	NP_001753.1	P40227	TCPZ_HUMAN	chaperonin containing TCP1, subunit 6A (zeta 1)	187					'de novo' posttranslational protein folding (GO:0051084)|binding of sperm to zona pellucida (GO:0007339)|cellular protein metabolic process (GO:0044267)|protein folding (GO:0006457)	acrosomal vesicle (GO:0001669)|cell body (GO:0044297)|chaperonin-containing T-complex (GO:0005832)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|zona pellucida receptor complex (GO:0002199)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|unfolded protein binding (GO:0051082)			breast(1)|cervix(2)|endometrium(1)|large_intestine(4)|lung(5)|stomach(1)|upper_aerodigestive_tract(1)	15	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			TGAACCTATTGATCTCTTCAT	0.393																																																	0													118.0	109.0	112.0					7																	56124052		2203	4300	6503	SO:0001583	missense	908			M94083	CCDS5523.1, CCDS34640.1	7p11.2	2011-09-02			ENSG00000146731	ENSG00000146731		"""Heat Shock Proteins / Chaperonins"""	1620	protein-coding gene	gene with protein product		104613		CCT6		1352881, 8034610	Standard	NM_001762		Approved	TTCP20, TCPZ, Cctz, HTR3, TCP20	uc003trl.1	P40227	OTTHUMG00000022842	ENST00000275603.4:c.559G>A	7.37:g.56124052G>A	ENSP00000275603:p.Asp187Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NCD2|Q3KP28|Q75LP4|Q96S46	Missense_Mutation	SNP	pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,prints_Chaperone_TCP-1,prints_Chaprnin_Cpn60,tigrfam_Chap_CCT_zeta	p.D187N	ENST00000275603.4	37	c.559	CCDS5523.1	7	.	.	.	.	.	.	.	.	.	.	G	24.1	4.493637	0.84962	.	.	ENSG00000146731	ENST00000275603;ENST00000335503;ENST00000540286;ENST00000539340	T;T;T	0.25414	1.8;1.8;1.8	5.72	5.72	0.89469	.	0.044816	0.85682	D	0.000000	T	0.44498	0.1296	L	0.59967	1.855	0.80722	D	1	P;P;B	0.38223	0.593;0.623;0.45	P;P;B	0.51101	0.659;0.558;0.445	T	0.21861	-1.0233	10	0.66056	D	0.02	-22.3279	18.9261	0.92546	0.0:0.0:1.0:0.0	.	156;142;187	B4DPJ8;A6NCD2;P40227	.;.;TCPZ_HUMAN	N	187;142;156;45	ENSP00000275603:D187N;ENSP00000352019:D142N;ENSP00000438488:D156N	ENSP00000275603:D187N	D	+	1	0	CCT6A	56091546	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	7.278000	0.78587	2.710000	0.92621	0.556000	0.70494	GAT	CCT6A	-	pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,tigrfam_Chap_CCT_zeta		0.393	CCT6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCT6A	HGNC	protein_coding	OTTHUMT00000251526.2	G	NM_001762		56124052	+1	no_errors	ENST00000275603	ensembl	human	known	70_37	missense	SNP	1.000	A
CD14	929	genome.wustl.edu	37	5	140011947	140011947	+	Missense_Mutation	SNP	C	C	A			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr5:140011947C>A	ENST00000302014.6	-	2	1251	c.622G>T	c.(622-624)Ggc>Tgc	p.G208C	CD14_ENST00000401743.2_Missense_Mutation_p.G208C	NM_000591.3	NP_000582.1	P08571	CD14_HUMAN	CD14 molecule	208					apoptotic process (GO:0006915)|cell surface receptor signaling pathway (GO:0007166)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to lipoteichoic acid (GO:0071223)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|phagocytosis (GO:0006909)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of endocytosis (GO:0045807)|positive regulation of tumor necrosis factor production (GO:0032760)|response to ethanol (GO:0045471)|response to heat (GO:0009408)|response to magnesium ion (GO:0032026)|response to tumor necrosis factor (GO:0034612)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	lipopolysaccharide binding (GO:0001530)|lipoteichoic acid binding (GO:0070891)|opsonin receptor activity (GO:0001847)|peptidoglycan receptor activity (GO:0016019)			endometrium(1)|large_intestine(1)|lung(3)|pancreas(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CCGCGTTCGCCCAGTCCAGGA	0.612																																																	0													56.0	61.0	59.0					5																	140011947		2203	4300	6503	SO:0001583	missense	929				CCDS4232.1	5q31.3	2012-09-20	2006-03-28		ENSG00000170458	ENSG00000170458		"""CD molecules"""	1628	protein-coding gene	gene with protein product		158120	"""CD14 antigen"""			2472171, 2462937	Standard	NM_000591		Approved		uc003lgi.2	P08571	OTTHUMG00000129507	ENST00000302014.6:c.622G>T	5.37:g.140011947C>A	ENSP00000304236:p.Gly208Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q53XT5|Q96FR6|Q96L99|Q9UNS3	Missense_Mutation	SNP	pfam_Leu-rich_rpt,pirsf_Monocyte_diff_Ag_CD14	p.G208C	ENST00000302014.6	37	c.622	CCDS4232.1	5	.	.	.	.	.	.	.	.	.	.	C	21.1	4.093775	0.76870	.	.	ENSG00000170458	ENST00000302014;ENST00000401743;ENST00000498971	T;T;T	0.32515	2.22;2.22;1.45	5.96	4.18	0.49190	.	0.483396	0.18619	N	0.135901	T	0.53899	0.1825	M	0.80982	2.52	0.29975	N	0.818226	D	0.89917	1.0	D	0.77557	0.99	T	0.54997	-0.8209	10	0.51188	T	0.08	-10.6125	9.5286	0.39180	0.0:0.8354:0.0:0.1646	.	208	P08571	CD14_HUMAN	C	208	ENSP00000304236:G208C;ENSP00000385519:G208C;ENSP00000426543:G208C	ENSP00000304236:G208C	G	-	1	0	CD14	139992131	0.036000	0.19791	0.989000	0.46669	0.997000	0.91878	0.795000	0.26972	1.542000	0.49330	0.655000	0.94253	GGC	CD14	-	pirsf_Monocyte_diff_Ag_CD14		0.612	CD14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CD14	HGNC	protein_coding	OTTHUMT00000251681.2	C	NM_000591		140011947	-1	no_errors	ENST00000302014	ensembl	human	known	70_37	missense	SNP	0.657	A
CD244	51744	genome.wustl.edu	37	1	160801171	160801171	+	Missense_Mutation	SNP	C	C	T	rs369311545		TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr1:160801171C>T	ENST00000368033.3	-	9	1161	c.1079G>A	c.(1078-1080)cGc>cAc	p.R360H	CD244_ENST00000368034.4_Missense_Mutation_p.R355H|CD244_ENST00000481677.1_5'Flank|CD244_ENST00000322302.7_Missense_Mutation_p.R263H			Q9BZW8	CD244_HUMAN	CD244 molecule, natural killer cell receptor 2B4	360					blood coagulation (GO:0007596)|leukocyte migration (GO:0050900)|signal transduction (GO:0007165)	external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			central_nervous_system(1)|large_intestine(3)|lung(12)|ovary(1)|urinary_tract(1)	18	all_cancers(52;2.72e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00737)			CAGCTCTTTGCGGCTCAATCG	0.463																																																	0								C	HIS/ARG,HIS/ARG,HIS/ARG	0,4406		0,0,2203	152.0	146.0	148.0		1079,788,1064	0.9	0.8	1		148	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense	CD244	NM_001166663.1,NM_001166664.1,NM_016382.3	29,29,29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging	360/371,263/274,355/366	160801171	1,13005	2203	4300	6503	SO:0001583	missense	51744			AF105261	CCDS1210.1, CCDS53398.1, CCDS53399.1	1q23.1	2013-01-11	2006-03-29		ENSG00000122223	ENSG00000122223		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	18171	protein-coding gene	gene with protein product		605554	"""natural killer cell receptor 2B4"", ""CD244 natural killer cell receptor 2B4"""			3772297, 10458320	Standard	NM_016382		Approved	2B4, NAIL, NKR2B4, Nmrk, SLAMF4	uc009wtq.3	Q9BZW8	OTTHUMG00000028606	ENST00000368033.3:c.1079G>A	1.37:g.160801171C>T	ENSP00000357012:p.Arg360His	Somatic		WXS	Illumina HiSeq	Phase_IV	Q5VYI2|Q5VYI6|Q5VYI7|Q96T47|Q9NQD2|Q9NQD3|Q9Y288	Missense_Mutation	SNP	pfam_NK_rcpt_2B4_Ig_dom,pfscan_Ig-like	p.R360H	ENST00000368033.3	37	c.1079	CCDS53399.1	1	.	.	.	.	.	.	.	.	.	.	C	18.58	3.655040	0.67472	0.0	1.16E-4	ENSG00000122223	ENST00000368034;ENST00000368033;ENST00000322302	T;T;T	0.56941	2.29;1.6;0.43	3.83	0.857	0.19025	.	0.498586	0.17226	N	0.182158	T	0.41073	0.1143	L	0.34521	1.04	0.58432	D	0.999998	D;D;D	0.89917	0.987;1.0;1.0	P;D;D	0.80764	0.58;0.987;0.994	T	0.45948	-0.9226	10	0.87932	D	0	-22.146	3.1532	0.06495	0.2098:0.5643:0.0:0.2259	.	263;360;355	Q9BZW8-4;Q9BZW8;Q9BZW8-2	.;CD244_HUMAN;.	H	355;360;263	ENSP00000357013:R355H;ENSP00000357012:R360H;ENSP00000313619:R263H	ENSP00000313619:R263H	R	-	2	0	CD244	159067795	0.038000	0.19896	0.765000	0.31456	0.407000	0.30961	-0.489000	0.06490	0.195000	0.20347	0.563000	0.77884	CGC	CD244	-	NULL		0.463	CD244-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CD244	HGNC	protein_coding	OTTHUMT00000071469.1	C	NM_016382		160801171	-1	no_errors	ENST00000368033	ensembl	human	known	70_37	missense	SNP	0.803	T
CD247	919	genome.wustl.edu	37	1	167487676	167487676	+	Silent	SNP	C	C	T			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr1:167487676C>T	ENST00000362089.5	-	1	99	c.27G>A	c.(25-27)gcG>gcA	p.A9A	CD247_ENST00000392122.3_Silent_p.A9A|CD247_ENST00000483825.1_5'UTR			P20963	CD3Z_HUMAN	CD247 molecule	9					Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|regulation of defense response to virus by virus (GO:0050690)|regulation of immune response (GO:0050776)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|viral process (GO:0016032)	alpha-beta T cell receptor complex (GO:0042105)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|T cell receptor complex (GO:0042101)	identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|transmembrane signaling receptor activity (GO:0004888)			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(1)|skin(1)	6			LUSC - Lung squamous cell carcinoma(543;0.236)		Muromonab(DB00075)	GCAGGATGGCCGCGGTGAAAA	0.577																																					Ovarian(192;1815 2869 36877 43334)												0													95.0	88.0	91.0					1																	167487676		2203	4300	6503	SO:0001819	synonymous_variant	919			BC025703	CCDS1260.1, CCDS1261.1	1q24.2	2014-09-17	2006-03-28	2006-03-09	ENSG00000198821	ENSG00000198821		"""CD molecules"""	1677	protein-coding gene	gene with protein product		186780	"""CD3z antigen, zeta polypeptide (TiT3 complex)"", ""CD247 antigen"""	CD3Z		2974162	Standard	NM_198053		Approved	CD3H, CD3Q	uc001gei.4	P20963	OTTHUMG00000034593	ENST00000362089.5:c.27G>A	1.37:g.167487676C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B1AK49|Q5VX13|Q8TAX4	Silent	SNP	pfam_Phos_immunorcpt_sig_ITAM,pfam_CR3_zeta/IgE_Fc_rcpt_gamma,smart_Phos_immunorcpt_sig_ITAM,pfscan_Phos_immunorcpt_sig_ITAM	p.A9	ENST00000362089.5	37	c.27	CCDS1261.1	1																																																																																			CD247	-	NULL		0.577	CD247-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CD247	HGNC	protein_coding	OTTHUMT00000083707.1	C	NM_198053		167487676	-1	no_errors	ENST00000362089	ensembl	human	known	70_37	silent	SNP	0.000	T
CD300LD	100131439	genome.wustl.edu	37	17	72584927	72584927	+	Silent	SNP	T	T	G			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr17:72584927T>G	ENST00000375352.1	-	2	182	c.102A>C	c.(100-102)tcA>tcC	p.S34S	C17orf77_ENST00000392620.1_Intron|C17orf77_ENST00000328023.2_5'Flank	NM_001115152.1	NP_001108624.1	Q6UXZ3	CLM4_HUMAN	CD300 molecule-like family member d	34	Ig-like V-type.				immune system process (GO:0002376)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				large_intestine(1)|lung(2)|prostate(1)|stomach(1)	5						GCACAGTCAATGAGCCCTGCT	0.493																																																	0													135.0	111.0	118.0					17																	72584927		1568	3582	5150	SO:0001819	synonymous_variant	100131439				CCDS42379.1	17q25.1	2014-05-15			ENSG00000204345	ENSG00000204345		"""Immunoglobulin superfamily / V-set domain containing"""	16848	protein-coding gene	gene with protein product						22291008	Standard	NM_001115152		Approved	CMRF35A4, CD300D	uc002jkz.2	Q6UXZ3	OTTHUMG00000067614	ENST00000375352.1:c.102A>C	17.37:g.72584927T>G		Somatic		WXS	Illumina HiSeq	Phase_IV		Silent	SNP	pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like	p.S34	ENST00000375352.1	37	c.102	CCDS42379.1	17																																																																																			CD300LD	-	pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like		0.493	CD300LD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CD300LD	HGNC	protein_coding	OTTHUMT00000145099.1	T	NM_001115152		72584927	-1	no_errors	ENST00000375352	ensembl	human	known	70_37	silent	SNP	0.000	G
CD5L	922	genome.wustl.edu	37	1	157805798	157805798	+	Missense_Mutation	SNP	C	C	T			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr1:157805798C>T	ENST00000368174.4	-	3	299	c.203G>A	c.(202-204)gGa>gAa	p.G68E	CD5L_ENST00000484609.1_5'UTR	NM_005894.2	NP_005885.1	O43866	CD5L_HUMAN	CD5 molecule-like	68	SRCR 1. {ECO:0000255|PROSITE- ProRule:PRU00196}.				apoptotic process (GO:0006915)|cellular defense response (GO:0006968)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	scavenger receptor activity (GO:0005044)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	52	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			GCTGGCAGCTCCACAGCCCAG	0.562																																																	0													151.0	155.0	154.0					1																	157805798		2203	4300	6503	SO:0001583	missense	922			U82812	CCDS1171.1	1q21-q23	2008-02-05	2006-03-28		ENSG00000073754	ENSG00000073754			1690	protein-coding gene	gene with protein product		602592	"""apoptosis inhibitor 6"", ""CD5 antigen-like (scavenger receptor cysteine rich family)"""	API6		9045627	Standard	NM_005894		Approved	Spalpha	uc001frk.4	O43866	OTTHUMG00000022440	ENST00000368174.4:c.203G>A	1.37:g.157805798C>T	ENSP00000357156:p.Gly68Glu	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K7M5|Q6UX63	Missense_Mutation	SNP	pfam_Srcr_rcpt,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_Srcr_rcpt,prints_Srcr_rcpt	p.G68E	ENST00000368174.4	37	c.203	CCDS1171.1	1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.942893	0.73672	.	.	ENSG00000073754	ENST00000368174	T	0.37411	1.2	4.85	4.85	0.62838	Speract/scavenger receptor (2);Speract/scavenger receptor-related (2);	0.312596	0.23017	N	0.052895	T	0.59169	0.2174	M	0.86343	2.81	0.47584	D	0.999465	D	0.89917	1.0	D	0.91635	0.999	T	0.65890	-0.6058	10	0.66056	D	0.02	.	15.5102	0.75776	0.0:1.0:0.0:0.0	.	68	O43866	CD5L_HUMAN	E	68	ENSP00000357156:G68E	ENSP00000357156:G68E	G	-	2	0	CD5L	156072422	1.000000	0.71417	0.732000	0.30844	0.323000	0.28346	5.528000	0.67129	2.503000	0.84419	0.563000	0.77884	GGA	CD5L	-	pfam_Srcr_rcpt,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_Srcr_rcpt		0.562	CD5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CD5L	HGNC	protein_coding	OTTHUMT00000058346.1	C	NM_005894		157805798	-1	no_errors	ENST00000368174	ensembl	human	known	70_37	missense	SNP	0.989	T
CD46	4179	genome.wustl.edu	37	1	207940452	207940452	+	Silent	SNP	C	C	T			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr1:207940452C>T	ENST00000358170.2	+	6	924	c.768C>T	c.(766-768)tgC>tgT	p.C256C	CD46_ENST00000469535.1_3'UTR|CD46_ENST00000361067.1_Silent_p.C256C|CD46_ENST00000360212.2_Silent_p.C256C|CD46_ENST00000322918.5_Silent_p.C256C|CD46_ENST00000367041.1_Silent_p.C256C|CD46_ENST00000354848.1_Silent_p.C256C|CD46_ENST00000480003.1_Silent_p.C256C|CD46_ENST00000357714.1_Silent_p.C256C|CD46_ENST00000441839.2_Silent_p.C256C|CD46_ENST00000367042.1_Silent_p.C256C|CD46_ENST00000367047.1_Silent_p.C193C|CD46_ENST00000322875.4_Silent_p.C256C	NM_002389.4	NP_002380.3	P15529	MCP_HUMAN	CD46 molecule, complement regulatory protein	256	Sushi 4. {ECO:0000255|PROSITE- ProRule:PRU00302}.				adaptive immune response (GO:0002250)|complement activation, classical pathway (GO:0006958)|innate immune response (GO:0045087)|interleukin-10 production (GO:0032613)|negative regulation of complement activation (GO:0045916)|negative regulation of gene expression (GO:0010629)|positive regulation of gene expression (GO:0010628)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of memory T cell differentiation (GO:0043382)|positive regulation of regulatory T cell differentiation (GO:0045591)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of transforming growth factor beta production (GO:0071636)|proteolysis (GO:0006508)|regulation of complement activation (GO:0030449)|regulation of Notch signaling pathway (GO:0008593)|sequestering of extracellular ligand from receptor (GO:0035581)|single fertilization (GO:0007338)|T cell mediated immunity (GO:0002456)|viral process (GO:0016032)	basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|inner acrosomal membrane (GO:0002079)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cadherin binding (GO:0045296)|receptor activity (GO:0004872)			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(6)|prostate(1)|skin(1)	19						TGTTTGAATGCGATAAGGGTT	0.388																																																	0													106.0	102.0	104.0					1																	207940452		2203	4300	6503	SO:0001819	synonymous_variant	4179			BC030594	CCDS1479.1, CCDS1480.1, CCDS1481.1, CCDS1482.1, CCDS1484.1, CCDS1485.1, CCDS31008.1, CCDS31009.1	1q32	2014-09-17	2006-03-28	2006-02-09	ENSG00000117335	ENSG00000117335		"""CD molecules"", ""Complement system"""	6953	protein-coding gene	gene with protein product		120920	"""antigen identified by monoclonal antibody TRA-2-10"", ""membrane cofactor protein (CD46, trophoblast-lymphocyte cross-reactive antigen)"", ""CD46 antigen, complement regulatory protein"""	MIC10, MCP		7929741	Standard	NM_002389		Approved	TRA2.10, MGC26544, TLX	uc001hgj.3	P15529	OTTHUMG00000036397	ENST00000358170.2:c.768C>T	1.37:g.207940452C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A0T1T0|A0T1T1|A0T1T2|Q15429|Q53GV9|Q5HY94|Q5VWS6|Q5VWS7|Q5VWS8|Q5VWS9|Q5VWT0|Q5VWT1|Q5VWT2|Q6N0A1|Q7Z3R5|Q9NNW2|Q9NNW3|Q9NNW4|Q9UCJ4	Silent	SNP	pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pirsf_M_CF_CD46,pfscan_Sushi_SCR_CCP	p.C256	ENST00000358170.2	37	c.768	CCDS1485.1	1																																																																																			CD46	-	pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pirsf_M_CF_CD46,pfscan_Sushi_SCR_CCP		0.388	CD46-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	CD46	HGNC	protein_coding	OTTHUMT00000088588.3	C	NM_172361		207940452	+1	no_errors	ENST00000322875	ensembl	human	known	70_37	silent	SNP	0.000	T
CD6	923	genome.wustl.edu	37	11	60776020	60776020	+	Missense_Mutation	SNP	C	C	T			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr11:60776020C>T	ENST00000313421.7	+	4	670	c.484C>T	c.(484-486)Cgc>Tgc	p.R162C	CD6_ENST00000545105.1_Intron|CD6_ENST00000346437.4_Missense_Mutation_p.R162C|CD6_ENST00000344028.5_Missense_Mutation_p.R162C|CD6_ENST00000352009.5_Missense_Mutation_p.R162C|CD6_ENST00000452451.2_Missense_Mutation_p.R162C	NM_006725.4	NP_006716.3	P30203	CD6_HUMAN	CD6 molecule	162	SRCR 2. {ECO:0000255|PROSITE- ProRule:PRU00196}.				cell adhesion (GO:0007155)	integral component of plasma membrane (GO:0005887)	scavenger receptor activity (GO:0005044)			endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|pancreas(1)|prostate(1)	18						CCGCGCGCTGCGCCTGGTGGA	0.682																																					Pancreas(169;904 2017 4767 38890 42505)												0													15.0	14.0	14.0					11																	60776020		2193	4287	6480	SO:0001583	missense	923				CCDS7999.1, CCDS58137.1, CCDS58138.1	11q12.2	2006-03-28	2006-03-28		ENSG00000013725	ENSG00000013725		"""CD molecules"""	1691	protein-coding gene	gene with protein product		186720	"""CD6 antigen"""			9013954	Standard	NM_006725		Approved	Tp120	uc001nqq.3	P30203	OTTHUMG00000167823	ENST00000313421.7:c.484C>T	11.37:g.60776020C>T	ENSP00000323280:p.Arg162Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	A4KAD4|A4KAD5|Q9UMF2|Q9Y4K7|Q9Y4K8|Q9Y4K9|Q9Y4L0	Missense_Mutation	SNP	pfam_Srcr_rcpt,superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_Srcr_rcpt,prints_Srcr_rcpt	p.R162C	ENST00000313421.7	37	c.484	CCDS7999.1	11	.	.	.	.	.	.	.	.	.	.	C	18.83	3.707204	0.68615	.	.	ENSG00000013725	ENST00000344028;ENST00000346437;ENST00000313421;ENST00000542157;ENST00000433107;ENST00000452451;ENST00000352009	T;T;T;T;T;T;T	0.54479	0.57;0.57;0.57;0.57;0.57;0.57;0.57	4.0	0.821	0.18799	Speract/scavenger receptor (2);Speract/scavenger receptor-related (2);	0.139871	0.27270	N	0.020130	T	0.77068	0.4076	H	0.96604	3.85	0.50813	D	0.999896	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.83275	0.996;0.964;0.985;0.99;0.92	T	0.76761	-0.2840	10	0.87932	D	0	.	7.2628	0.26214	0.2967:0.6207:0.0:0.0826	.	162;162;162;162;162	E7ER04;P30203-5;P30203-4;P30203;Q8N4Q7	.;.;.;CD6_HUMAN;.	C	162	ENSP00000344108:R162C;ENSP00000345566:R162C;ENSP00000323280:R162C;ENSP00000440055:R162C;ENSP00000410638:R162C;ENSP00000390676:R162C;ENSP00000340628:R162C	ENSP00000323280:R162C	R	+	1	0	CD6	60532596	1.000000	0.71417	0.006000	0.13384	0.003000	0.03518	1.498000	0.35660	0.348000	0.23949	-0.136000	0.14681	CGC	CD6	-	superfamily_Srcr_rcpt-rel,smart_Srcr_rcpt-rel,pfscan_Srcr_rcpt,prints_Srcr_rcpt		0.682	CD6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CD6	HGNC	protein_coding	OTTHUMT00000396449.1	C	NM_006725		60776020	+1	no_errors	ENST00000313421	ensembl	human	known	70_37	missense	SNP	0.985	T
CD8B	926	genome.wustl.edu	37	2	87072069	87072069	+	Missense_Mutation	SNP	C	C	T			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr2:87072069C>T	ENST00000390655.6	-	5	654	c.596G>A	c.(595-597)aGa>aAa	p.R199K	CD8B_ENST00000349455.3_Missense_Mutation_p.R169K|CD8B_ENST00000393761.2_Intron|CD8B_ENST00000431506.2_Missense_Mutation_p.R19K|CD8B_ENST00000331469.2_Missense_Mutation_p.R199K|CD8B_ENST00000393759.2_Missense_Mutation_p.R199K	NM_004931.4	NP_004922.1	P10966	CD8B_HUMAN	CD8b molecule	199					immune response (GO:0006955)|regulation of defense response to virus by virus (GO:0050690)|regulation of immune response (GO:0050776)|T cell activation (GO:0042110)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|viral process (GO:0016032)	early endosome membrane (GO:0031901)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|T cell receptor complex (GO:0042101)	coreceptor activity (GO:0015026)|MHC class I protein binding (GO:0042288)			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	13						AAGCCGGGCTCTCCTCCGCCG	0.612																																																	0													20.0	19.0	20.0					2																	87072069		2170	4211	6381	SO:0001583	missense	926				CCDS1994.1, CCDS1995.1, CCDS42708.1, CCDS1997.1, CCDS54376.1	2p12	2013-01-11	2006-03-28	2006-03-09	ENSG00000172116	ENSG00000172116		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"""	1707	protein-coding gene	gene with protein product		186730	"""CD8 antigen, beta polypeptide 1 (p37)"""	CD8B1		1541829	Standard	NM_172213		Approved		uc002srw.3	P10966	OTTHUMG00000130264	ENST00000390655.6:c.596G>A	2.37:g.87072069C>T	ENSP00000375070:p.Arg199Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	P14860|P14861|Q15980|Q496E0|Q496E1|Q496E2|Q9UDB4|Q9UDB5|Q9UDB6|Q9UDB7|Q9UDB8|Q9UDB9|Q9UDC0|Q9UQ55	Missense_Mutation	SNP	pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like	p.R199K	ENST00000390655.6	37	c.596	CCDS1997.1	2	.	.	.	.	.	.	.	.	.	.	C	12.21	1.869387	0.32977	.	.	ENSG00000172116	ENST00000393759;ENST00000349455;ENST00000331469;ENST00000390655;ENST00000445248;ENST00000431506	.	.	.	4.02	1.24	0.21308	.	0.109289	0.64402	N	0.000008	T	0.34366	0.0895	M	0.72576	2.205	0.09310	N	0.999992	B;B;B;B;B	0.31705	0.227;0.096;0.27;0.336;0.154	B;B;B;B;B	0.26969	0.034;0.021;0.059;0.075;0.048	T	0.18493	-1.0335	9	0.38643	T	0.18	-9.4547	6.103	0.20057	0.0:0.6733:0.0:0.3267	.	199;199;169;199;199	Q53QL8;P10966;P10966-3;P10966-2;P10966-6	.;CD8B_HUMAN;.;.;.	K	199;169;199;199;199;19	.	ENSP00000331172:R199K	R	-	2	0	CD8B	86925580	0.999000	0.42202	1.000000	0.80357	0.686000	0.39977	0.294000	0.19047	0.269000	0.21961	0.561000	0.74099	AGA	CD8B	-	NULL		0.612	CD8B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CD8B	HGNC	protein_coding	OTTHUMT00000330402.1	C	NM_172099		87072069	-1	no_errors	ENST00000331469	ensembl	human	known	70_37	missense	SNP	1.000	T
CDC40	51362	genome.wustl.edu	37	6	110514391	110514391	+	Missense_Mutation	SNP	T	T	G			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr6:110514391T>G	ENST00000368932.1	+	3	297	c.196T>G	c.(196-198)Ttg>Gtg	p.L66V	CDC40_ENST00000368930.1_Missense_Mutation_p.L66V|CDC40_ENST00000307731.1_Missense_Mutation_p.L66V			O60508	PRP17_HUMAN	cell division cycle 40	66					gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	catalytic step 2 spliceosome (GO:0071013)|nucleoplasm (GO:0005654)|spliceosomal complex (GO:0005681)	poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(7)|prostate(1)|skin(1)	18		all_cancers(87;6.23e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.00159)|Colorectal(196;0.0488)		Epithelial(106;0.0221)|all cancers(137;0.0314)|OV - Ovarian serous cystadenocarcinoma(136;0.034)		TTAGGAAGATTTGGAGACTGG	0.348																																																	0													94.0	92.0	93.0					6																	110514391		2203	4300	6503	SO:0001583	missense	51362			AF015044	CCDS5081.1	6q22.1	2013-01-17	2013-01-17		ENSG00000168438	ENSG00000168438		"""WD repeat domain containing"""	17350	protein-coding gene	gene with protein product		605585	"""cell division cycle 40 homolog (yeast)"", ""cell division cycle 40 homolog (S. cerevisiae)"""			9769104, 9830021	Standard	NM_015891		Approved	PRP17, EHB3, PRPF17, FLJ10564	uc003pua.3	O60508	OTTHUMG00000015358	ENST00000368932.1:c.196T>G	6.37:g.110514391T>G	ENSP00000357928:p.Leu66Val	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RBC5|O75471|Q5SRN0|Q9UPG1	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.L66V	ENST00000368932.1	37	c.196	CCDS5081.1	6	.	.	.	.	.	.	.	.	.	.	T	4.843	0.156771	0.09236	.	.	ENSG00000168438	ENST00000368932;ENST00000368933;ENST00000368930;ENST00000307731;ENST00000439165	T;T;T;T	0.60040	0.35;0.22;0.22;0.35	5.54	1.43	0.22495	.	0.116916	0.56097	N	0.000023	T	0.07683	0.0193	N	0.00656	-1.285	0.40144	D	0.976864	B	0.02656	0.0	B	0.01281	0.0	T	0.16958	-1.0385	10	0.12430	T	0.62	-3.6796	8.502	0.33163	0.0:0.0864:0.5438:0.3699	.	66	O60508	PRP17_HUMAN	V	66	ENSP00000357928:L66V;ENSP00000357929:L66V;ENSP00000357926:L66V;ENSP00000304370:L66V	ENSP00000304370:L66V	L	+	1	2	CDC40	110621084	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.459000	0.60102	0.454000	0.26884	0.533000	0.62120	TTG	CDC40	-	NULL		0.348	CDC40-005	KNOWN	basic|appris_principal|CCDS	protein_coding	CDC40	HGNC	protein_coding	OTTHUMT00000041791.1	T	NM_015891		110514391	+1	no_errors	ENST00000307731	ensembl	human	known	70_37	missense	SNP	1.000	G
CDH10	1008	genome.wustl.edu	37	5	24511474	24511474	+	Missense_Mutation	SNP	C	C	G			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr5:24511474C>G	ENST00000264463.4	-	6	1471	c.964G>C	c.(964-966)Gag>Cag	p.E322Q		NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	322	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.E322K(1)|p.E322*(1)		NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		GTGTCCTTCTCAGTCACGATG	0.413										HNSCC(23;0.051)																																							2	Substitution - Nonsense(1)|Substitution - Missense(1)	lung(2)											271.0	216.0	234.0					5																	24511474		2203	4300	6503	SO:0001583	missense	1008			AF039747	CCDS3892.1	5p14.2	2010-01-26			ENSG00000040731	ENSG00000040731		"""Cadherins / Major cadherins"""	1749	protein-coding gene	gene with protein product		604555				2059658	Standard	NM_006727		Approved		uc003jgr.2	Q9Y6N8	OTTHUMG00000090667	ENST00000264463.4:c.964G>C	5.37:g.24511474C>G	ENSP00000264463:p.Glu322Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	Q9ULB3	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.E322Q	ENST00000264463.4	37	c.964	CCDS3892.1	5	.	.	.	.	.	.	.	.	.	.	C	13.83	2.354713	0.41700	.	.	ENSG00000040731	ENST00000264463	T	0.54071	0.59	5.22	4.33	0.51752	Cadherin (4);Cadherin-like (1);	0.322834	0.32868	N	0.005554	T	0.43942	0.1270	L	0.38175	1.15	0.32727	N	0.509501	B	0.02656	0.0	B	0.11329	0.006	T	0.56637	-0.7946	10	0.72032	D	0.01	.	13.5546	0.61751	0.0:0.7677:0.2322:0.0	.	322	Q9Y6N8	CAD10_HUMAN	Q	322	ENSP00000264463:E322Q	ENSP00000264463:E322Q	E	-	1	0	CDH10	24547231	0.958000	0.32768	0.999000	0.59377	0.848000	0.48234	2.030000	0.41108	2.410000	0.81850	0.650000	0.86243	GAG	CDH10	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.413	CDH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH10	HGNC	protein_coding	OTTHUMT00000207345.2	C	NM_006727		24511474	-1	no_errors	ENST00000264463	ensembl	human	known	70_37	missense	SNP	0.995	G
CDH19	28513	genome.wustl.edu	37	18	64172242	64172242	+	Missense_Mutation	SNP	T	T	A			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr18:64172242T>A	ENST00000262150.2	-	12	2418	c.2126A>T	c.(2125-2127)gAt>gTt	p.D709V		NM_021153.3	NP_066976.1	Q96JQ0	PCD16_HUMAN	cadherin 19, type 2	0	Cadherin 7. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|calcium-dependent cell-cell adhesion (GO:0016339)|cochlea development (GO:0090102)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|neural tube development (GO:0021915)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|post-anal tail morphogenesis (GO:0036342)	apical part of cell (GO:0045177)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(22)|ovary(1)|prostate(3)|skin(7)	61		Esophageal squamous(42;0.0132)				GGCACACGGATCAGTATTAGC	0.493																																																	0													136.0	130.0	132.0					18																	64172242		2203	4300	6503	SO:0001583	missense	28513			AJ007607	CCDS11994.1, CCDS59325.1	18q22.1	2010-01-26			ENSG00000071991	ENSG00000071991		"""Cadherins / Major cadherins"""	1758	protein-coding gene	gene with protein product		603016				10995570	Standard	NM_021153		Approved	CDH7	uc002lkc.2	Q9H159	OTTHUMG00000132802	ENST00000262150.2:c.2126A>T	18.37:g.64172242T>A	ENSP00000262150:p.Asp709Val	Somatic		WXS	Illumina HiSeq	Phase_IV	O15098	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.D709V	ENST00000262150.2	37	c.2126	CCDS11994.1	18	.	.	.	.	.	.	.	.	.	.	T	20.3	3.964506	0.74131	.	.	ENSG00000071991	ENST00000262150	T	0.80480	-1.38	5.19	4.04	0.47022	Cadherin, cytoplasmic domain (1);	0.000000	0.85682	D	0.000000	D	0.91509	0.7319	H	0.94886	3.595	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.92173	0.5745	10	0.87932	D	0	.	10.8659	0.46856	0.0:0.0741:0.0:0.9259	.	709	Q9H159	CAD19_HUMAN	V	709	ENSP00000262150:D709V	ENSP00000262150:D709V	D	-	2	0	CDH19	62323222	1.000000	0.71417	0.379000	0.26080	0.862000	0.49288	7.489000	0.81451	0.925000	0.37094	0.533000	0.62120	GAT	CDH19	-	pfam_Cadherin_cytoplasmic-dom		0.493	CDH19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH19	HGNC	protein_coding	OTTHUMT00000256219.1	T	NM_021153		64172242	-1	no_errors	ENST00000262150	ensembl	human	known	70_37	missense	SNP	0.999	A
CDH4	1002	genome.wustl.edu	37	20	60448849	60448849	+	Missense_Mutation	SNP	C	C	T			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr20:60448849C>T	ENST00000360469.5	+	7	1031	c.943C>T	c.(943-945)Cgg>Tgg	p.R315W	CDH4_ENST00000543233.1_Missense_Mutation_p.R241W	NM_001794.3	NP_001785.2	P55283	CADH4_HUMAN	cadherin 4, type 1, R-cadherin (retinal)	315	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.R315W(1)		NS(2)|breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(2)|lung(25)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74			BRCA - Breast invasive adenocarcinoma(19;2.36e-08)			CGGGATGGTGCGGTACCGGAT	0.612																																																	1	Substitution - Missense(1)	large_intestine(1)											160.0	124.0	136.0					20																	60448849		2203	4300	6503	SO:0001583	missense	1002			L34059	CCDS13488.1, CCDS58784.1	20q13.3	2010-01-26			ENSG00000179242	ENSG00000179242		"""Cadherins / Major cadherins"""	1763	protein-coding gene	gene with protein product	"""R-Cadherin"""	603006				10191097, 10516427	Standard	NM_001794		Approved		uc002ybn.2	P55283	OTTHUMG00000032890	ENST00000360469.5:c.943C>T	20.37:g.60448849C>T	ENSP00000353656:p.Arg315Trp	Somatic		WXS	Illumina HiSeq	Phase_IV	B3KWB8|G3V1P8|Q2M208|Q5VZ44|Q9BZ05	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,pfam_Cadherin_pro_dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin,prints_Desmocollin	p.R315W	ENST00000360469.5	37	c.943	CCDS13488.1	20	.	.	.	.	.	.	.	.	.	.	C	18.72	3.684470	0.68157	.	.	ENSG00000179242	ENST00000360469;ENST00000536643;ENST00000543233	T;T	0.54866	0.55;0.55	4.92	1.43	0.22495	Cadherin (4);Cadherin-like (1);	0.230798	0.40640	N	0.001048	T	0.75657	0.3879	M	0.93550	3.43	0.39684	D	0.970949	D	0.89917	1.0	D	0.66351	0.943	T	0.82406	-0.0473	9	.	.	.	.	12.8927	0.58080	0.7422:0.2578:0.0:0.0	.	315	P55283	CADH4_HUMAN	W	315;223;241	ENSP00000353656:R315W;ENSP00000443301:R241W	.	R	+	1	2	CDH4	59882244	1.000000	0.71417	0.978000	0.43139	0.759000	0.43091	1.829000	0.39121	0.433000	0.26313	0.585000	0.79938	CGG	CDH4	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.612	CDH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH4	HGNC	protein_coding	OTTHUMT00000079965.2	C	NM_001794		60448849	+1	no_errors	ENST00000360469	ensembl	human	known	70_37	missense	SNP	0.993	T
CDH6	1004	genome.wustl.edu	37	5	31267658	31267658	+	Silent	SNP	G	G	A			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr5:31267658G>A	ENST00000265071.2	+	2	343	c.78G>A	c.(76-78)aaG>aaA	p.K26K	RP11-152K4.2_ENST00000523584.1_RNA|CDH6_ENST00000514738.1_5'UTR	NM_004932.3	NP_004923.1	P55285	CADH6_HUMAN	cadherin 6, type 2, K-cadherin (fetal kidney)	26					adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						CACTATCAAAGAGGACTAGTG	0.502																																																	0													97.0	100.0	99.0					5																	31267658		2203	4300	6503	SO:0001819	synonymous_variant	1004			D31784	CCDS3894.1	5p13.3	2010-01-26			ENSG00000113361	ENSG00000113361		"""Cadherins / Major cadherins"""	1765	protein-coding gene	gene with protein product	"""K-Cadherin"""	603007				7743525, 10191097	Standard	NM_004932		Approved		uc003jhe.2	P55285	OTTHUMG00000090673	ENST00000265071.2:c.78G>A	5.37:g.31267658G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	A8K5H5|Q9BWS0	Silent	SNP	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.K26	ENST00000265071.2	37	c.78	CCDS3894.1	5																																																																																			CDH6	-	NULL		0.502	CDH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH6	HGNC	protein_coding	OTTHUMT00000207355.2	G	NM_004932		31267658	+1	no_errors	ENST00000265071	ensembl	human	known	70_37	silent	SNP	0.862	A
CDHR4	389118	genome.wustl.edu	37	3	49832787	49832787	+	Silent	SNP	C	C	T			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr3:49832787C>T	ENST00000412678.2	-	8	881	c.873G>A	c.(871-873)acG>acA	p.T291T	CDHR4_ENST00000462108.1_5'Flank	NM_001007540.2	NP_001007541.2	A6H8M9	CDHR4_HUMAN	cadherin-related family member 4	291	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(3)|large_intestine(3)|lung(3)	11						ACTCTAGGGGCGTGGTGGTCC	0.637																																																	0													59.0	62.0	61.0					3																	49832787		692	1591	2283	SO:0001819	synonymous_variant	389118				CCDS46829.1	3p21.31	2011-07-01	2010-01-25	2010-01-25	ENSG00000187492	ENSG00000187492		"""Cadherins / Cadherin-related"""	34527	protein-coding gene	gene with protein product			"""cadherin-like 29"""	CDH29			Standard	NM_001007540		Approved	VLLR9392	uc010hkz.3	A6H8M9	OTTHUMG00000158198	ENST00000412678.2:c.873G>A	3.37:g.49832787C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q6UXT0	Silent	SNP	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.T291	ENST00000412678.2	37	c.873	CCDS46829.1	3																																																																																			CDHR4	-	superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin		0.637	CDHR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDHR4	HGNC	protein_coding	OTTHUMT00000350387.1	C	NM_001007540		49832787	-1	no_errors	ENST00000412678	ensembl	human	known	70_37	silent	SNP	0.000	T
CDK11A	728642	genome.wustl.edu	37	1	1636376	1636376	+	Silent	SNP	G	G	C			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr1:1636376G>C	ENST00000378633.1	-	13	1513	c.1434C>G	c.(1432-1434)ctC>ctG	p.L478L	CDK11A_ENST00000378638.2_Silent_p.L441L|RP1-283E3.8_ENST00000598846.1_RNA|CDK11A_ENST00000358779.5_Silent_p.L465L|CDK11A_ENST00000404249.3_Silent_p.L475L|CDK11A_ENST00000357760.2_Silent_p.L474L|CDK11A_ENST00000495016.1_5'Flank|CDK11A_ENST00000356200.3_Silent_p.L441L			Q9UQ88	CD11A_HUMAN	cyclin-dependent kinase 11A	478	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|mitotic nuclear division (GO:0007067)|protein phosphorylation (GO:0006468)|regulation of cell growth (GO:0001558)|regulation of mRNA processing (GO:0050684)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			central_nervous_system(1)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(4)|stomach(1)|urinary_tract(1)	18						GCTGGGCCTTGAGGATGGTGT	0.572																																					Pancreas(186;965 2119 30274 40311 50569)												0													168.0	251.0	224.0					1																	1636376		1974	4181	6155	SO:0001819	synonymous_variant	728642			AF067522	CCDS44042.1, CCDS44043.1	1p36.33	2011-11-08	2009-12-16	2009-12-16	ENSG00000008128	ENSG00000008128		"""Cyclin-dependent kinases"""	1730	protein-coding gene	gene with protein product		116951	"""cell division cycle 2-like 2"", ""cell division cycle 2-like 2 (PITSLRE proteins)"""	CDC2L3, CDC2L2		7920654, 9750192, 19884882	Standard	NM_033529		Approved	PITSLRE, CDK11-p110, CDK11-p58, CDK11-p46, p58GTA		Q9UQ88	OTTHUMG00000000703	ENST00000378633.1:c.1434C>G	1.37:g.1636376G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	O95227|O95228|O96012|Q12821|Q12853|Q12854|Q2TAJ0|Q5QPR0|Q5QPR1|Q5QPR2|Q9UBC4|Q9UBI3|Q9UEI1|Q9UEI2|Q9UP53|Q9UP54|Q9UP55|Q9UP56|Q9UQ86|Q9UQ87|Q9UQ89	Silent	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.L475	ENST00000378633.1	37	c.1425		1																																																																																			CDK11A	-	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		0.572	CDK11A-005	NOVEL	basic	protein_coding	CDK11A	HGNC	protein_coding	OTTHUMT00000001735.1	G	NM_024011		1636376	-1	no_errors	ENST00000404249	ensembl	human	known	70_37	silent	SNP	0.961	C
CDON	50937	genome.wustl.edu	37	11	125853858	125853858	+	Silent	SNP	G	G	A			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr11:125853858G>A	ENST00000392693.3	-	16	3031	c.2904C>T	c.(2902-2904)atC>atT	p.I968I	CDON_ENST00000263577.7_Silent_p.I968I|CDON_ENST00000531738.1_Silent_p.I345I	NM_001243597.1|NM_016952.4	NP_001230526.1|NP_058648.4	Q4KMG0	CDON_HUMAN	cell adhesion associated, oncogene regulated	968					anterior/posterior pattern specification (GO:0009952)|cell adhesion (GO:0007155)|cell fate specification (GO:0001708)|cerebral cortex development (GO:0021987)|embryonic body morphogenesis (GO:0010172)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|lens development in camera-type eye (GO:0002088)|muscle cell differentiation (GO:0042692)|myoblast fusion (GO:0007520)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of neural precursor cell proliferation (GO:2000179)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of skeletal muscle tissue development (GO:0048643)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of protein heterodimerization activity (GO:0043497)|skeletal muscle satellite cell differentiation (GO:0014816)|smoothened signaling pathway (GO:0007224)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.I968I(1)		breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(9)|ovary(3)|prostate(2)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	61	all_hematologic(175;0.177)	Breast(109;0.00157)|Lung NSC(97;0.0127)|all_lung(97;0.0133)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.51e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0604)		CACAGCCAACGATCAGATATA	0.488																																																	1	Substitution - coding silent(1)	large_intestine(1)											90.0	79.0	83.0					11																	125853858		2201	4299	6500	SO:0001819	synonymous_variant	50937			AF004841	CCDS8468.1, CCDS58192.1	11q24.2	2013-02-11	2012-12-07		ENSG00000064309	ENSG00000064309		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	17104	protein-coding gene	gene with protein product	"""cell adhesion molecule-related/down-regulated by oncogenes"""	608707	"""Cdon homolog (mouse)"""			9214393	Standard	NM_016952		Approved	ORCAM, CDO, CDON1	uc009zbw.3	Q4KMG0	OTTHUMG00000165862	ENST00000392693.3:c.2904C>T	11.37:g.125853858G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	O14631	Silent	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.I968	ENST00000392693.3	37	c.2904	CCDS58192.1	11																																																																																			CDON	-	NULL		0.488	CDON-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CDON	HGNC	protein_coding	OTTHUMT00000386749.2	G	NM_016952		125853858	-1	no_errors	ENST00000392693	ensembl	human	known	70_37	silent	SNP	0.398	A
CDT1	81620	genome.wustl.edu	37	16	88871169	88871169	+	Splice_Site	SNP	G	G	T			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr16:88871169G>T	ENST00000301019.4	+	3	970		c.e3-1			NM_030928.3	NP_112190.2			chromatin licensing and DNA replication factor 1											central_nervous_system(1)|endometrium(2)|kidney(1)|lung(3)	7				BRCA - Breast invasive adenocarcinoma(80;0.0476)		TCCCCCTGAAGGACACCATCT	0.701																																					Melanoma(159;511 3380 30971)												0													33.0	33.0	33.0					16																	88871169		2196	4300	6496	SO:0001630	splice_region_variant	81620			AF070552	CCDS32510.1	16q24.3	2014-08-12			ENSG00000167513	ENSG00000167513			24576	protein-coding gene	gene with protein product		605525				11896191, 11555648	Standard	NM_030928		Approved	DUP, RIS2	uc002flu.3	Q9H211	OTTHUMG00000173467	ENST00000301019.4:c.352-1G>T	16.37:g.88871169G>T		Somatic		WXS	Illumina HiSeq	Phase_IV		Splice_Site	SNP	-	e3-1	ENST00000301019.4	37	c.352-1	CCDS32510.1	16	.	.	.	.	.	.	.	.	.	.	G	7.368	0.626298	0.14257	.	.	ENSG00000167513	ENST00000301019	.	.	.	4.26	-0.245	0.13027	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.2841	0.31917	0.3677:0.0:0.6323:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CDT1	87398670	0.000000	0.05858	0.031000	0.17742	0.010000	0.07245	-0.500000	0.06405	0.030000	0.15379	0.449000	0.29647	.	CDT1	-	-		0.701	CDT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDT1	HGNC	protein_coding	OTTHUMT00000423215.1	G	NM_030928	Intron	88871169	+1	no_errors	ENST00000301019	ensembl	human	known	70_37	splice_site	SNP	0.020	T
CEBPZ	10153	genome.wustl.edu	37	2	37455944	37455944	+	Missense_Mutation	SNP	C	C	T			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr2:37455944C>T	ENST00000234170.5	-	2	537	c.392G>A	c.(391-393)aGt>aAt	p.S131N	NDUFAF7_ENST00000002125.4_5'Flank|NDUFAF7_ENST00000336237.6_5'Flank	NM_005760.2	NP_005751.2	Q03701	CEBPZ_HUMAN	CCAAT/enhancer binding protein (C/EBP), zeta	131					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|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 positive regulation of transcription (GO:0001077)			breast(3)|endometrium(2)|large_intestine(7)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	28		all_hematologic(82;0.21)				TGTCCTTTGACTTTCTGCTGT	0.323																																																	0													98.0	99.0	99.0					2																	37455944		2203	4299	6502	SO:0001583	missense	10153			M37197	CCDS1787.1	2p22.3	2008-09-03	2008-09-03		ENSG00000115816	ENSG00000115816			24218	protein-coding gene	gene with protein product		612828				2247079, 12534345	Standard	NM_005760		Approved	CBF2, CTF2	uc002rpz.3	Q03701	OTTHUMG00000100960	ENST00000234170.5:c.392G>A	2.37:g.37455944C>T	ENSP00000234170:p.Ser131Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	Q8NE75	Missense_Mutation	SNP	pfam_CCAAT-binding_factor,superfamily_ARM-type_fold	p.S131N	ENST00000234170.5	37	c.392	CCDS1787.1	2	.	.	.	.	.	.	.	.	.	.	C	0.026	-1.373507	0.01214	.	.	ENSG00000115816	ENST00000234170;ENST00000545744;ENST00000446769	T;T	0.02525	4.26;4.26	5.65	-0.963	0.10330	.	1.134260	0.06206	N	0.684140	T	0.02727	0.0082	N	0.25647	0.755	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.47209	-0.9135	10	0.87932	D	0	.	7.0017	0.24813	0.1109:0.5433:0.0:0.3458	.	131	Q03701	CEBPZ_HUMAN	N	131;131;82	ENSP00000234170:S131N;ENSP00000391881:S82N	ENSP00000234170:S131N	S	-	2	0	CEBPZ	37309448	0.000000	0.05858	0.000000	0.03702	0.175000	0.22909	-0.862000	0.04263	0.075000	0.16796	0.655000	0.94253	AGT	CEBPZ	-	NULL		0.323	CEBPZ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CEBPZ	HGNC	protein_coding	OTTHUMT00000218569.2	C	NM_005760		37455944	-1	no_errors	ENST00000234170	ensembl	human	known	70_37	missense	SNP	0.000	T
CEL	1056	genome.wustl.edu	37	9	135947029	135947029	+	Missense_Mutation	SNP	G	G	A			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr9:135947029G>A	ENST00000372080.4	+	11	2165	c.2149G>A	c.(2149-2151)Gtg>Atg	p.V717M	CEL_ENST00000351304.7_Missense_Mutation_p.V648M	NM_001807.3	NP_001798.2	P19835	CEL_HUMAN	carboxyl ester lipase	714	17 X 11 AA tandem repeats, glycodomain, O-linked (mucin type).				cholesterol catabolic process (GO:0006707)|fatty acid catabolic process (GO:0009062)|intestinal cholesterol absorption (GO:0030299)|intestinal lipid catabolic process (GO:0044258)|lipid digestion (GO:0044241)|lipid metabolic process (GO:0006629)|pancreatic juice secretion (GO:0030157)|protein esterification (GO:0018350)|small molecule metabolic process (GO:0044281)|triglyceride metabolic process (GO:0006641)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	acylglycerol lipase activity (GO:0047372)|catalytic activity (GO:0003824)|heparin binding (GO:0008201)|hydrolase activity (GO:0016787)|sterol esterase activity (GO:0004771)|triglyceride lipase activity (GO:0004806)			NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(9)|pancreas(2)|skin(1)	20				OV - Ovarian serous cystadenocarcinoma(145;1.03e-40)|Epithelial(140;3.58e-37)|GBM - Glioblastoma multiforme(294;0.00164)|READ - Rectum adenocarcinoma(205;0.196)		GACCGCCCCCGTGCCGCCCAC	0.761																																																	0													6.0	8.0	8.0					9																	135947029		1651	3827	5478	SO:0001583	missense	1056			M54994	CCDS43896.1	9q34.3	2013-03-13	2013-03-13		ENSG00000170835	ENSG00000170835	3.1.1.3, 3.1.1.13		1848	protein-coding gene	gene with protein product	"""bile salt-stimulated lipase"""	114840				1676983	Standard	NM_001807		Approved	BSSL, MODY8	uc010naa.2	P19835	OTTHUMG00000020855	ENST00000372080.4:c.2149G>A	9.37:g.135947029G>A	ENSP00000361151:p.Val717Met	Somatic		WXS	Illumina HiSeq	Phase_IV	Q16398|Q5T7U7|Q9UCH1|Q9UP41	Missense_Mutation	SNP	pfam_CarbesteraseB,pfam_AB_hydrolase_3	p.V717M	ENST00000372080.4	37	c.2149	CCDS43896.1	9	.	.	.	.	.	.	.	.	.	.	g	5.513	0.279641	0.10458	.	.	ENSG00000170835	ENST00000372080;ENST00000351304;ENST00000303626	T;T	0.72167	-0.42;-0.63	2.24	-0.999	0.10208	.	.	.	.	.	T	0.39682	0.1087	N	0.19112	0.55	0.09310	N	1	P	0.45715	0.865	B	0.26864	0.074	T	0.38023	-0.9680	9	0.44086	T	0.13	.	1.258	0.01996	0.1748:0.1789:0.465:0.1813	.	714	P19835	CEL_HUMAN	M	717;648;683	ENSP00000361151:V717M;ENSP00000342217:V648M	ENSP00000304021:V683M	V	+	1	0	CEL	134936850	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.075000	0.03423	-0.226000	0.09899	-2.060000	0.00399	GTG	CEL	-	NULL		0.761	CEL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CEL	HGNC	protein_coding	OTTHUMT00000054823.1	G			135947029	+1	no_errors	ENST00000372080	ensembl	human	known	70_37	missense	SNP	0.000	A
CELSR2	1952	genome.wustl.edu	37	1	109817461	109817461	+	3'UTR	DEL	A	A	-			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr1:109817461delA	ENST00000271332.3	+	0	9623				CELSR2_ENST00000498157.1_3'UTR	NM_001408.2	NP_001399.1	Q9HCU4	CELR2_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 2						cerebrospinal fluid secretion (GO:0033326)|cilium assembly (GO:0042384)|cilium movement (GO:0003341)|dendrite morphogenesis (GO:0048813)|G-protein coupled receptor signaling pathway (GO:0007186)|homophilic cell adhesion (GO:0007156)|neural plate anterior/posterior regionalization (GO:0021999)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|regulation of cell-cell adhesion (GO:0022407)|regulation of protein localization (GO:0032880)|regulation of transcription, DNA-templated (GO:0006355)|ventricular system development (GO:0021591)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(27)|ovary(5)|prostate(1)|skin(3)|urinary_tract(2)	82		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0296)|Lung(183;0.067)|COAD - Colon adenocarcinoma(174;0.114)|Epithelial(280;0.193)|all cancers(265;0.219)		TTGCTGACCCAAAAGTGCTTC	0.637																																					NSCLC(158;1285 2011 34800 34852 42084)												0																																										SO:0001624	3_prime_UTR_variant	1952			D87469	CCDS796.1	1p13.3	2014-08-08	2013-02-18		ENSG00000143126	ENSG00000143126		"""Cadherins / Major cadherins"", ""-"", ""GPCR / Class B : Orphans"""	3231	protein-coding gene	gene with protein product		604265	"""cadherin, EGF LAG seven-pass G-type receptor 2, flamingo (Drosophila) homolog"""	EGFL2		9693030, 10907856	Standard	NM_001408		Approved	KIAA0279, MEGF3, Flamingo1, CDHF10	uc001dxa.4	Q9HCU4	OTTHUMG00000012003	ENST00000271332.3:c.*790A>-	1.37:g.109817461delA		Somatic		WXS	Illumina HiSeq	Phase_IV	Q5T2Y7|Q92566	RNA	DEL	-	NULL	ENST00000271332.3	37	NULL	CCDS796.1	1																																																																																			CELSR2	-	-		0.637	CELSR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CELSR2	HGNC	protein_coding	OTTHUMT00000033200.1	A	NM_001408		109817461	+1	no_errors	ENST00000491918	ensembl	human	known	70_37	rna	DEL	1.000	-
CENPE	1062	genome.wustl.edu	37	4	104068764	104068764	+	Missense_Mutation	SNP	C	C	T			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr4:104068764C>T	ENST00000265148.3	-	29	3972	c.3883G>A	c.(3883-3885)Gtg>Atg	p.V1295M	CENPE_ENST00000380026.3_Missense_Mutation_p.V1270M	NM_001813.2	NP_001804.2	Q02224	CENPE_HUMAN	centromere protein E, 312kDa	1295					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|kinetochore assembly (GO:0051382)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic chromosome movement towards spindle pole (GO:0007079)|mitotic metaphase plate congression (GO:0007080)|multicellular organismal development (GO:0007275)|positive regulation of protein kinase activity (GO:0045860)|regulation of mitotic metaphase/anaphase transition (GO:0030071)	chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|condensed chromosome outer kinetochore (GO:0000940)|condensed chromosome, centromeric region (GO:0000779)|condensed nuclear chromosome kinetochore (GO:0000778)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|midbody (GO:0030496)|mitotic spindle midzone (GO:1990023)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|kinetochore binding (GO:0043515)|microtubule motor activity (GO:0003777)			NS(3)|breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(20)|lung(34)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(5)|urinary_tract(3)	101				OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)		ACTTCTTTCACATTAGGCAGT	0.363																																																	0													159.0	137.0	145.0					4																	104068764		2203	4300	6503	SO:0001583	missense	1062			Z15005	CCDS34042.1, CCDS68768.1	4q24-q25	2013-11-05	2002-08-29			ENSG00000138778		"""Kinesins"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	1856	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 61"""	117143	"""centromere protein E (312kD)"""			7851898	Standard	NM_001286734		Approved	KIF10, PPP1R61	uc003hxb.1	Q02224		ENST00000265148.3:c.3883G>A	4.37:g.104068764C>T	ENSP00000265148:p.Val1295Met	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NKY9|A8K2U7|Q4LE75	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,superfamily_STAT_TF_coiled-coil,superfamily_Signal_recog_particl_SRP54_hlx,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.V1295M	ENST00000265148.3	37	c.3883	CCDS34042.1	4	.	.	.	.	.	.	.	.	.	.	C	8.015	0.758295	0.15846	.	.	ENSG00000138778	ENST00000265148;ENST00000394771;ENST00000380026	T;T	0.71817	-0.6;-0.6	5.02	0.232	0.15381	.	.	.	.	.	T	0.57917	0.2086	L	0.54323	1.7	0.09310	N	1	B;P	0.35272	0.048;0.493	B;B	0.29785	0.022;0.107	T	0.49986	-0.8880	9	0.56958	D	0.05	.	4.2095	0.10505	0.0:0.4586:0.1658:0.3755	.	1270;1295	Q02224-3;Q02224	.;CENPE_HUMAN	M	1295;1295;1270	ENSP00000265148:V1295M;ENSP00000369365:V1270M	ENSP00000265148:V1295M	V	-	1	0	CENPE	104288213	0.000000	0.05858	0.001000	0.08648	0.016000	0.09150	-0.178000	0.09782	-0.073000	0.12842	0.585000	0.79938	GTG	CENPE	-	NULL		0.363	CENPE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	CENPE	HGNC	protein_coding		C			104068764	-1	no_errors	ENST00000265148	ensembl	human	known	70_37	missense	SNP	0.000	T
CENPE	1062	genome.wustl.edu	37	4	104080379	104080379	+	Missense_Mutation	SNP	C	C	T			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr4:104080379C>T	ENST00000265148.3	-	22	2478	c.2389G>A	c.(2389-2391)Gaa>Aaa	p.E797K	CENPE_ENST00000380026.3_Missense_Mutation_p.E772K	NM_001813.2	NP_001804.2	Q02224	CENPE_HUMAN	centromere protein E, 312kDa	797					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|kinetochore assembly (GO:0051382)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic chromosome movement towards spindle pole (GO:0007079)|mitotic metaphase plate congression (GO:0007080)|multicellular organismal development (GO:0007275)|positive regulation of protein kinase activity (GO:0045860)|regulation of mitotic metaphase/anaphase transition (GO:0030071)	chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|condensed chromosome outer kinetochore (GO:0000940)|condensed chromosome, centromeric region (GO:0000779)|condensed nuclear chromosome kinetochore (GO:0000778)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|midbody (GO:0030496)|mitotic spindle midzone (GO:1990023)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|kinetochore binding (GO:0043515)|microtubule motor activity (GO:0003777)			NS(3)|breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(20)|lung(34)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(5)|urinary_tract(3)	101				OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)		TTCCCAATTTCTTCAAGTAAA	0.323																																																	0													115.0	116.0	116.0					4																	104080379		2202	4299	6501	SO:0001583	missense	1062			Z15005	CCDS34042.1, CCDS68768.1	4q24-q25	2013-11-05	2002-08-29			ENSG00000138778		"""Kinesins"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	1856	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 61"""	117143	"""centromere protein E (312kD)"""			7851898	Standard	NM_001286734		Approved	KIF10, PPP1R61	uc003hxb.1	Q02224		ENST00000265148.3:c.2389G>A	4.37:g.104080379C>T	ENSP00000265148:p.Glu797Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NKY9|A8K2U7|Q4LE75	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,superfamily_STAT_TF_coiled-coil,superfamily_Signal_recog_particl_SRP54_hlx,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.E797K	ENST00000265148.3	37	c.2389	CCDS34042.1	4	.	.	.	.	.	.	.	.	.	.	C	17.88	3.497504	0.64186	.	.	ENSG00000138778	ENST00000265148;ENST00000394771;ENST00000380026;ENST00000503705	T;T;T	0.79247	-1.25;-1.25;-1.25	4.92	4.08	0.47627	.	.	.	.	.	D	0.83004	0.5160	M	0.62723	1.935	0.41601	D	0.988852	B;D	0.76494	0.129;0.999	B;D	0.63192	0.067;0.912	D	0.83898	0.0288	9	0.87932	D	0	.	9.2124	0.37326	0.0:0.7769:0.1455:0.0776	.	772;797	Q02224-3;Q02224	.;CENPE_HUMAN	K	797;797;772;797	ENSP00000265148:E797K;ENSP00000369365:E772K;ENSP00000423981:E797K	ENSP00000265148:E797K	E	-	1	0	CENPE	104299828	1.000000	0.71417	0.999000	0.59377	0.729000	0.41735	3.075000	0.50073	1.194000	0.43101	0.650000	0.86243	GAA	CENPE	-	NULL		0.323	CENPE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	CENPE	HGNC	protein_coding		C			104080379	-1	no_errors	ENST00000265148	ensembl	human	known	70_37	missense	SNP	1.000	T
CENPE	1062	genome.wustl.edu	37	4	104084651	104084651	+	Nonsense_Mutation	SNP	A	A	T			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr4:104084651A>T	ENST00000265148.3	-	17	1796	c.1707T>A	c.(1705-1707)taT>taA	p.Y569*	CENPE_ENST00000380026.3_Intron	NM_001813.2	NP_001804.2	Q02224	CENPE_HUMAN	centromere protein E, 312kDa	569					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|kinetochore assembly (GO:0051382)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic chromosome movement towards spindle pole (GO:0007079)|mitotic metaphase plate congression (GO:0007080)|multicellular organismal development (GO:0007275)|positive regulation of protein kinase activity (GO:0045860)|regulation of mitotic metaphase/anaphase transition (GO:0030071)	chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|condensed chromosome outer kinetochore (GO:0000940)|condensed chromosome, centromeric region (GO:0000779)|condensed nuclear chromosome kinetochore (GO:0000778)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)|midbody (GO:0030496)|mitotic spindle midzone (GO:1990023)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|kinetochore binding (GO:0043515)|microtubule motor activity (GO:0003777)			NS(3)|breast(6)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(20)|lung(34)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(5)|urinary_tract(3)	101				OV - Ovarian serous cystadenocarcinoma(123;2.95e-08)		GATCTTGATTATATACTTCTG	0.318																																																	0													73.0	66.0	69.0					4																	104084651		2202	4295	6497	SO:0001587	stop_gained	1062			Z15005	CCDS34042.1, CCDS68768.1	4q24-q25	2013-11-05	2002-08-29			ENSG00000138778		"""Kinesins"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	1856	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 61"""	117143	"""centromere protein E (312kD)"""			7851898	Standard	NM_001286734		Approved	KIF10, PPP1R61	uc003hxb.1	Q02224		ENST00000265148.3:c.1707T>A	4.37:g.104084651A>T	ENSP00000265148:p.Tyr569*	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NKY9|A8K2U7|Q4LE75	Nonsense_Mutation	SNP	pfam_Kinesin_motor_dom,superfamily_STAT_TF_coiled-coil,superfamily_Signal_recog_particl_SRP54_hlx,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.Y569*	ENST00000265148.3	37	c.1707	CCDS34042.1	4	.	.	.	.	.	.	.	.	.	.	A	38	6.830774	0.97869	.	.	ENSG00000138778	ENST00000265148;ENST00000394771;ENST00000503705	.	.	.	4.42	4.42	0.53409	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	4.3783	0.11281	0.7663:0.0:0.2337:0.0	.	.	.	.	X	569	.	ENSP00000265148:Y569X	Y	-	3	2	CENPE	104304100	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.884000	0.56175	2.225000	0.72522	0.454000	0.30748	TAT	CENPE	-	NULL		0.318	CENPE-201	KNOWN	basic|appris_principal|CCDS	protein_coding	CENPE	HGNC	protein_coding		A			104084651	-1	no_errors	ENST00000265148	ensembl	human	known	70_37	nonsense	SNP	1.000	T
CEP112	201134	genome.wustl.edu	37	17	64092438	64092438	+	Silent	SNP	C	C	T	rs371306725		TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr17:64092438C>T	ENST00000392769.2	-	8	917	c.699G>A	c.(697-699)ccG>ccA	p.P233P	CEP112_ENST00000535342.2_Silent_p.P233P|CEP112_ENST00000537949.1_Intron	NM_145036.3	NP_659473.2	Q8N8E3	CE112_HUMAN	centrosomal protein 112kDa	233					receptor localization to synapse (GO:0097120)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|inhibitory synapse (GO:0060077)|plasma membrane (GO:0005886)				NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(8)|lung(11)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	28						GGCTGAATTTCGGTGTCATCT	0.393																																																	0								C	,	1,4405	2.1+/-5.4	0,1,2202	123.0	112.0	116.0		699,699	-6.8	0.9	17		116	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	CEP112	NM_001199165.1,NM_145036.3	,	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	,	233/956,233/956	64092438	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	201134			AF458591	CCDS32710.1, CCDS32711.1	17q24.2	2014-02-20	2011-05-06	2011-05-06	ENSG00000154240	ENSG00000154240			28514	protein-coding gene	gene with protein product			"""coiled-coil domain containing 46"""	CCDC46		21399614	Standard	NM_145036		Approved	MGC33887	uc002jfl.3	Q8N8E3		ENST00000392769.2:c.699G>A	17.37:g.64092438C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q6PIB5|Q8NCR4|Q8NFR4	Silent	SNP	superfamily_t-SNARE	p.P233	ENST00000392769.2	37	c.699	CCDS32710.1	17																																																																																			CEP112	-	NULL		0.393	CEP112-201	KNOWN	basic|appris_principal|CCDS	protein_coding	CEP112	HGNC	protein_coding	OTTHUMT00000446582.1	C	NM_145036		64092438	-1	no_errors	ENST00000392769	ensembl	human	known	70_37	silent	SNP	0.527	T
CEP135	9662	genome.wustl.edu	37	4	56847537	56847537	+	Nonsense_Mutation	SNP	A	A	T			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr4:56847537A>T	ENST00000257287.4	+	13	1895	c.1771A>T	c.(1771-1773)Aaa>Taa	p.K591*		NM_025009.4	NP_079285.2	Q66GS9	CP135_HUMAN	centrosomal protein 135kDa	591					centriole replication (GO:0007099)|centriole-centriole cohesion (GO:0010457)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	centriole (GO:0005814)|centrosome (GO:0005813)|cytosol (GO:0005829)	protein C-terminus binding (GO:0008022)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(9)|lung(26)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	50	Glioma(25;0.08)|all_neural(26;0.101)					TTTAAGAGAAAAATTAGAGGT	0.323																																																	0													94.0	107.0	102.0					4																	56847537		2201	4296	6497	SO:0001587	stop_gained	9662			AB014535	CCDS33986.1	4q12	2014-02-20	2005-12-02	2005-12-02	ENSG00000174799	ENSG00000174799			29086	protein-coding gene	gene with protein product		611423	"""KIAA0635"", ""centrosomal protein 4"""	KIAA0635, CEP4		9734811, 14654843	Standard	NM_025009		Approved	FLJ13621	uc003hbi.4	Q66GS9	OTTHUMG00000160748	ENST00000257287.4:c.1771A>T	4.37:g.56847537A>T	ENSP00000257287:p.Lys591*	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RMY0|O75130|Q58F25|Q9H8H7	Nonsense_Mutation	SNP	superfamily_Prefoldin	p.K591*	ENST00000257287.4	37	c.1771	CCDS33986.1	4	.	.	.	.	.	.	.	.	.	.	A	38	7.221202	0.98143	.	.	ENSG00000174799	ENST00000257287	.	.	.	4.69	4.69	0.59074	.	0.188406	0.53938	D	0.000043	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	14.0993	0.65044	1.0:0.0:0.0:0.0	.	.	.	.	X	591	.	ENSP00000257287:K591X	K	+	1	0	CEP135	56542294	1.000000	0.71417	1.000000	0.80357	0.650000	0.38633	5.630000	0.67805	1.879000	0.54435	0.383000	0.25322	AAA	CEP135	-	NULL		0.323	CEP135-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CEP135	HGNC	protein_coding	OTTHUMT00000362092.2	A	NM_025009		56847537	+1	no_errors	ENST00000257287	ensembl	human	known	70_37	nonsense	SNP	1.000	T
CEP152	22995	genome.wustl.edu	37	15	49030519	49030519	+	Missense_Mutation	SNP	G	G	A			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr15:49030519G>A	ENST00000380950.2	-	27	5247	c.5060C>T	c.(5059-5061)tCa>tTa	p.S1687L	CEP152_ENST00000399334.3_Missense_Mutation_p.S1631L	NM_001194998.1|NM_014985.3	NP_001181927.1|NP_055800.2	O94986	CE152_HUMAN	centrosomal protein 152kDa	1687					cell projection organization (GO:0030030)|centriole replication (GO:0007099)|centrosome duplication (GO:0051298)|de novo centriole assembly (GO:0098535)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytosol (GO:0005829)|deuterosome (GO:0098536)|nucleus (GO:0005634)	protein kinase binding (GO:0019901)			breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(16)|lung(30)|ovary(1)|prostate(2)|skin(2)	63		all_lung(180;0.0428)		all cancers(107;1.08e-07)|GBM - Glioblastoma multiforme(94;2.32e-06)		TAATTTTCTTGAAGGCTGCTG	0.368																																																	0													111.0	104.0	106.0					15																	49030519		1856	4085	5941	SO:0001583	missense	22995			AB020719	CCDS42033.1, CCDS58361.1	15q21.1	2014-02-20							29298	protein-coding gene	gene with protein product	"""asterless"""	613529	"""microcephaly, primary autosomal recessive 4"""	MCPH4		14654843, 21131973	Standard	NM_014985		Approved	KIAA0912, SCKL5	uc001zwz.3	O94986		ENST00000380950.2:c.5060C>T	15.37:g.49030519G>A	ENSP00000370337:p.Ser1687Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	E7ER66|Q17RV1|Q6NTA0	Missense_Mutation	SNP	NULL	p.S1687L	ENST00000380950.2	37	c.5060	CCDS58361.1	15	.	.	.	.	.	.	.	.	.	.	G	12.74	2.028505	0.35797	.	.	ENSG00000103995	ENST00000399334	T	0.55588	0.51	4.54	1.6	0.23607	.	1.228890	0.06148	N	0.673578	T	0.32763	0.0840	N	0.12746	0.255	0.09310	N	0.999999	B	0.11235	0.004	B	0.11329	0.006	T	0.21861	-1.0233	10	0.24483	T	0.36	1.0688	6.0519	0.19790	0.2412:0.1362:0.6226:0.0	.	1631	O94986	CE152_HUMAN	L	1631	ENSP00000382271:S1631L	ENSP00000382271:S1631L	S	-	2	0	CEP152	46817811	0.000000	0.05858	0.003000	0.11579	0.689000	0.40095	-0.173000	0.09854	0.162000	0.19483	0.563000	0.77884	TCA	CEP152	-	NULL		0.368	CEP152-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CEP152	HGNC	protein_coding	OTTHUMT00000417365.1	G	NM_014985		49030519	-1	no_errors	ENST00000380950	ensembl	human	known	70_37	missense	SNP	0.036	A
CEP170	9859	genome.wustl.edu	37	1	243328008	243328008	+	Missense_Mutation	SNP	G	G	A			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr1:243328008G>A	ENST00000366542.1	-	13	3305	c.3254C>T	c.(3253-3255)tCa>tTa	p.S1085L	RP11-261C10.4_ENST00000422938.1_RNA|CEP170_ENST00000490813.1_5'Flank|RP11-261C10.4_ENST00000437499.1_RNA|CEP170_ENST00000366544.1_Missense_Mutation_p.S987L|CEP170_ENST00000366543.1_Missense_Mutation_p.S987L	NM_014812.2	NP_055627.2	Q5SW79	CE170_HUMAN	centrosomal protein 170kDa	1085	Targeting to microtubules.					centriole (GO:0005814)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|nuclear membrane (GO:0031965)				NS(1)|breast(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	62	all_neural(11;0.101)	all_cancers(173;0.003)	all cancers(7;5.81e-06)|GBM - Glioblastoma multiforme(7;0.000443)|OV - Ovarian serous cystadenocarcinoma(106;0.0101)			TTTACTAGATGAACCAGATAC	0.483																																																	0													58.0	56.0	56.0					1																	243328008		1931	4118	6049	SO:0001583	missense	9859			AB022657	CCDS44337.1, CCDS44338.1, CCDS44339.1	1q44	2014-02-20	2006-01-12	2006-01-12	ENSG00000143702	ENSG00000143702			28920	protein-coding gene	gene with protein product	"""KARP 1 binding protein"", ""XRCC5 binding protein"""	613023	"""KIAA0470"""	KIAA0470		15616186	Standard	NM_014812		Approved	KAB, FAM68A	uc021plo.1	Q5SW79	OTTHUMG00000039862	ENST00000366542.1:c.3254C>T	1.37:g.243328008G>A	ENSP00000355500:p.Ser1085Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	O75058|Q5SW77|Q5SW78|Q7LGA9|Q86W31|Q9UQ08|Q9UQ09	Missense_Mutation	SNP	pfam_FHA_dom,superfamily_SMAD_FHA_domain,superfamily_Fibronectin_type3,smart_FHA_dom,pfscan_FHA_dom	p.S1085L	ENST00000366542.1	37	c.3254	CCDS44339.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.20|11.20	1.567253|1.567253	0.28003|0.28003	.|.	.|.	ENSG00000143702|ENSG00000143702	ENST00000336415|ENST00000366542;ENST00000366544;ENST00000366543;ENST00000532008	.|T;T;T	.|0.50548	.|0.77;0.77;0.74	5.04|5.04	4.13|4.13	0.48395|0.48395	.|.	.|0.343513	.|0.31312	.|N	.|0.007872	T|T	0.22898|0.22898	0.0553|0.0553	N|N	0.08118|0.08118	0|0	0.80722|0.80722	D|D	1|1	.|P;B;B;B	.|0.44429	.|0.835;0.228;0.228;0.179	.|B;B;B;B	.|0.36567	.|0.228;0.058;0.083;0.058	T|T	0.03545|0.03545	-1.1026|-1.1026	5|10	.|0.33141	.|T	.|0.24	-3.1231|-3.1231	8.319|8.319	0.32117|0.32117	0.084:0.0:0.7521:0.1639|0.084:0.0:0.7521:0.1639	.|.	.|1048;987;987;1085	.|B1ARM6;Q5SW79-3;Q5SW79-2;Q5SW79	.|.;.;.;CE170_HUMAN	Y|L	1049|1085;987;987;46	.|ENSP00000355500:S1085L;ENSP00000355502:S987L;ENSP00000355501:S987L	.|ENSP00000355500:S1085L	H|S	-|-	1|2	0|0	CEP170|CEP170	241394631|241394631	0.998000|0.998000	0.40836|0.40836	0.829000|0.829000	0.32907|0.32907	0.543000|0.543000	0.35085|0.35085	2.757000|2.757000	0.47557|0.47557	1.107000|1.107000	0.41642|0.41642	0.555000|0.555000	0.69702|0.69702	CAT|TCA	CEP170	-	NULL		0.483	CEP170-003	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	CEP170	HGNC	protein_coding	OTTHUMT00000096178.2	G	NM_014812		243328008	-1	no_errors	ENST00000366542	ensembl	human	known	70_37	missense	SNP	0.934	A
CEP68	23177	genome.wustl.edu	37	2	65298779	65298779	+	Silent	SNP	C	C	G	rs150940314		TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr2:65298779C>G	ENST00000377990.2	+	3	752	c.549C>G	c.(547-549)tcC>tcG	p.S183S	CEP68_ENST00000537589.1_5'UTR|CEP68_ENST00000497039.1_3'UTR|RAB1A_ENST00000494188.1_Intron|CEP68_ENST00000260569.4_Silent_p.S183S|CEP68_ENST00000546106.1_Silent_p.S183S	NM_015147.2	NP_055962.2	Q76N32	CEP68_HUMAN	centrosomal protein 68kDa	183					centriole-centriole cohesion (GO:0010457)|centrosome organization (GO:0051297)|protein localization to organelle (GO:0033365)	centrosome (GO:0005813)|cytoplasm (GO:0005737)	protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			breast(1)|endometrium(6)|kidney(8)|large_intestine(5)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32						AGTGGAAGTCCGTGCTGAGCC	0.607																																																	0													80.0	67.0	71.0					2																	65298779		2203	4300	6503	SO:0001819	synonymous_variant	23177			BC004873	CCDS1880.2	2p14	2014-02-20	2005-12-01	2005-12-01	ENSG00000011523	ENSG00000011523			29076	protein-coding gene	gene with protein product			"""KIAA0582"""	KIAA0582		9628581, 9847074, 14654843	Standard	NM_015147		Approved		uc002sdl.4	Q76N32	OTTHUMG00000129538	ENST00000377990.2:c.549C>G	2.37:g.65298779C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	B4DRQ1|D6W5F1|D6W5F2|O60326|Q9BQ18|Q9UDM9	Silent	SNP	NULL	p.S183	ENST00000377990.2	37	c.549	CCDS1880.2	2																																																																																			CEP68	-	NULL		0.607	CEP68-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CEP68	HGNC	protein_coding	OTTHUMT00000251727.2	C	NM_015147		65298779	+1	no_errors	ENST00000377990	ensembl	human	known	70_37	silent	SNP	0.000	G
CHADL	150356	genome.wustl.edu	37	22	41633589	41633589	+	Missense_Mutation	SNP	G	G	A	rs561946844	byFrequency	TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr22:41633589G>A	ENST00000216241.9	-	3	1539	c.1487C>T	c.(1486-1488)gCt>gTt	p.A496V		NM_138481.1	NP_612490.1	Q6NUI6	CHADL_HUMAN	chondroadherin-like	496						proteinaceous extracellular matrix (GO:0005578)				breast(1)|endometrium(1)|kidney(1)|skin(1)	4						GAGGCGGGGAGCCCCTTCAAG	0.692													G|||	2	0.000399361	0.0015	0.0	5008	,	,		14479	0.0		0.0	False		,,,				2504	0.0																0													3.0	6.0	5.0					22																	41633589		613	1475	2088	SO:0001583	missense	150356			BC012882	CCDS46715.1	22q13.2	2008-10-31			ENSG00000100399	ENSG00000100399			25165	protein-coding gene	gene with protein product						12477932	Standard	NM_138481		Approved	SLRR4B	uc003azq.4	Q6NUI6	OTTHUMG00000150936	ENST00000216241.9:c.1487C>T	22.37:g.41633589G>A	ENSP00000216241:p.Ala496Val	Somatic		WXS	Illumina HiSeq	Phase_IV	Q05CY2|Q4G0S0|Q5JY13|Q86XY1|Q96E60	Missense_Mutation	SNP	pfam_Leu-rich_rpt,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C	p.A496V	ENST00000216241.9	37	c.1487	CCDS46715.1	22	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	0.006|0.006	-2.055806|-2.055806	0.00390|0.00390	.|.	.|.	ENSG00000100399|ENSG00000100399	ENST00000216241|ENST00000417999	T|.	0.56941|.	0.43|.	4.84|4.84	1.53|1.53	0.23141|0.23141	.|.	0.187817|.	0.45126|.	D|.	0.000382|.	T|T	0.19406|0.19406	0.0466|0.0466	N|N	0.05574|0.05574	-0.02|-0.02	0.09310|0.09310	N|N	0.999998|0.999998	B;B|.	0.29612|.	0.251;0.163|.	B;B|.	0.29267|.	0.1;0.046|.	T|T	0.26258|0.26258	-1.0108|-1.0108	10|5	0.38643|.	T|.	0.18|.	.|.	10.9581|10.9581	0.47368|0.47368	0.2724:0.0:0.7276:0.0|0.2724:0.0:0.7276:0.0	.|.	496;496|.	Q6NUI6-2;Q6NUI6|.	.;CHADL_HUMAN|.	V|F	496|494	ENSP00000216241:A496V|.	ENSP00000216241:A496V|.	A|L	-|-	2|1	0|0	CHADL|CHADL	39963535|39963535	0.951000|0.951000	0.32395|0.32395	0.106000|0.106000	0.21319|0.21319	0.005000|0.005000	0.04900|0.04900	2.701000|2.701000	0.47094|0.47094	0.446000|0.446000	0.26666|0.26666	-1.547000|-1.547000	0.00903|0.00903	GCT|CTC	CHADL	-	NULL		0.692	CHADL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHADL	HGNC	protein_coding	OTTHUMT00000320597.1	G	NM_138481		41633589	-1	no_errors	ENST00000216241	ensembl	human	known	70_37	missense	SNP	0.163	A
CHD1	1105	genome.wustl.edu	37	5	98236756	98236756	+	Silent	SNP	A	A	C			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr5:98236756A>C	ENST00000284049.3	-	6	767	c.618T>G	c.(616-618)ctT>ctG	p.L206L		NM_001270.2	NP_001261.2	O14646	CHD1_HUMAN	chromodomain helicase DNA binding protein 1	206					chromatin modification (GO:0016568)|DNA duplex unwinding (GO:0032508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|methylated histone binding (GO:0035064)			NS(1)|breast(4)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(12)|ovary(2)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	49		all_cancers(142;5.36e-08)|all_epithelial(76;6.97e-11)|Lung NSC(167;0.000693)|Prostate(80;0.000986)|all_lung(232;0.00119)|Ovarian(225;0.024)|Colorectal(57;0.117)		COAD - Colon adenocarcinoma(37;0.0717)	Epirubicin(DB00445)	TTTTTTGTCCAAGAATCTTCT	0.313																																																	0													84.0	80.0	81.0					5																	98236756		2203	4300	6503	SO:0001819	synonymous_variant	1105			AF006513	CCDS34204.1	5q15-q21	2008-07-18			ENSG00000153922	ENSG00000153922			1915	protein-coding gene	gene with protein product		602118				8460153, 9326634	Standard	XM_005271866		Approved		uc003knf.3	O14646	OTTHUMG00000162744	ENST00000284049.3:c.618T>G	5.37:g.98236756A>C		Somatic		WXS	Illumina HiSeq	Phase_IV	Q17RZ3	Silent	SNP	pfam_SNF2_N,pfam_Chromo_domain,pfam_Helicase_C,superfamily_Chromodomain-like,superfamily_Homeodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow	p.L206	ENST00000284049.3	37	c.618	CCDS34204.1	5																																																																																			CHD1	-	NULL		0.313	CHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHD1	HGNC	protein_coding	OTTHUMT00000370295.1	A	NM_001270		98236756	-1	no_errors	ENST00000284049	ensembl	human	known	70_37	silent	SNP	0.986	C
CHD3	1107	genome.wustl.edu	37	17	7804021	7804021	+	Missense_Mutation	SNP	G	G	A			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr17:7804021G>A	ENST00000330494.7	+	18	3100	c.2950G>A	c.(2950-2952)Gtt>Att	p.V984I	CHD3_ENST00000380358.4_Missense_Mutation_p.V1043I|CHD3_ENST00000358181.4_Missense_Mutation_p.V984I	NM_001005273.2	NP_001005273.1	Q12873	CHD3_HUMAN	chromodomain helicase DNA binding protein 3	984					centrosome organization (GO:0051297)|chromatin assembly or disassembly (GO:0006333)|chromatin modification (GO:0016568)|DNA duplex unwinding (GO:0032508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|spindle organization (GO:0007051)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|nucleolus (GO:0005730)|nucleus (GO:0005634)|NuRD complex (GO:0016581)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	65		Prostate(122;0.202)				AGAGCTCATCGTTCGGGTGGA	0.517																																																	0													56.0	54.0	55.0					17																	7804021		2203	4300	6503	SO:0001583	missense	1107			U08379	CCDS32553.2, CCDS32554.1, CCDS32555.1	17p13	2013-01-28			ENSG00000170004	ENSG00000170004		"""Zinc fingers, PHD-type"""	1918	protein-coding gene	gene with protein product		602120				9326634, 7560064	Standard	NM_001005271		Approved	Mi-2a, ZFH, Mi2-ALPHA	uc002gjd.2	Q12873	OTTHUMG00000150427	ENST00000330494.7:c.2950G>A	17.37:g.7804021G>A	ENSP00000332628:p.Val984Ile	Somatic		WXS	Illumina HiSeq	Phase_IV	D3DTQ9|E9PG89|Q9Y4I0	Missense_Mutation	SNP	pfam_CHD_C2,pfam_SNF2_N,pfam_DUF1086,pfam_CHD_N,pfam_DUF1087,pfam_Znf_PHD-finger,pfam_Chromo_domain,pfam_Helicase_C,pfam_HDA_complex_subunit-2/3,pfam_Helicase/UvrB_dom,superfamily_Chromodomain-like,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_Znf_PHD,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Znf_PHD-finger,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow	p.V984I	ENST00000330494.7	37	c.2950	CCDS32554.1	17	.	.	.	.	.	.	.	.	.	.	G	17.93	3.509228	0.64522	.	.	ENSG00000170004	ENST00000380358;ENST00000358181;ENST00000330494	T;T;T	0.75477	-0.94;-0.94;-0.94	4.73	4.73	0.59995	SNF2-related (1);	0.000000	0.39020	N	0.001493	T	0.80232	0.4585	L	0.29908	0.895	0.80722	D	1	D;D;D	0.76494	0.998;0.999;0.999	D;D;D	0.79784	0.981;0.989;0.993	T	0.82820	-0.0268	10	0.87932	D	0	-17.3164	18.2447	0.89981	0.0:0.0:1.0:0.0	.	984;984;1043	Q12873-2;Q12873;E9PG89	.;CHD3_HUMAN;.	I	1043;984;984	ENSP00000369716:V1043I;ENSP00000350907:V984I;ENSP00000332628:V984I	ENSP00000332628:V984I	V	+	1	0	CHD3	7744746	1.000000	0.71417	0.996000	0.52242	0.971000	0.66376	9.601000	0.98297	2.627000	0.88993	0.561000	0.74099	GTT	CHD3	-	pfam_SNF2_N		0.517	CHD3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CHD3	HGNC	protein_coding	OTTHUMT00000318050.1	G	NM_001005273		7804021	+1	no_errors	ENST00000330494	ensembl	human	known	70_37	missense	SNP	1.000	A
CHD6	84181	genome.wustl.edu	37	20	40111980	40111980	+	Missense_Mutation	SNP	C	C	T			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr20:40111980C>T	ENST00000373233.3	-	16	2614	c.2437G>A	c.(2437-2439)Gac>Aac	p.D813N	CHD6_ENST00000309279.7_Intron	NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	813	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				ATP catabolic process (GO:0006200)|chromatin modification (GO:0016568)|positive regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0036091)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|transcription cofactor binding (GO:0001221)			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				TCTAGGATGTCGAGGCAGCGC	0.453																																																	0													97.0	87.0	91.0					20																	40111980		2203	4300	6503	SO:0001583	missense	84181			AF525085	CCDS13317.1	20q12	2003-03-07			ENSG00000124177	ENSG00000124177			19057	protein-coding gene	gene with protein product						11889561	Standard	NM_032221		Approved	KIAA1335, FLJ22369, dJ620E11.1, CHD5, RIGB	uc002xka.1	Q8TD26	OTTHUMG00000032487	ENST00000373233.3:c.2437G>A	20.37:g.40111980C>T	ENSP00000362330:p.Asp813Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	Q5JYQ0|Q5TGZ9|Q5TH00|Q5TH01|Q8IZR2|Q8WTY0|Q9H4H6|Q9H6D4|Q9NTT7|Q9P2L1	Missense_Mutation	SNP	pfam_SNF2_N,pfam_Chromo_domain,pfam_Helicase_C,pfam_Helicase/UvrB_dom,pfam_BRK_domain,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,smart_BRK_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow	p.D813N	ENST00000373233.3	37	c.2437	CCDS13317.1	20	.	.	.	.	.	.	.	.	.	.	C	36	5.839733	0.97009	.	.	ENSG00000124177	ENST00000373233	T	0.78126	-1.15	5.56	5.56	0.83823	Helicase, C-terminal (2);	0.000000	0.64402	D	0.000007	D	0.83663	0.5303	L	0.47016	1.485	0.80722	D	1	D	0.76494	0.999	P	0.59115	0.852	D	0.84690	0.0722	10	0.87932	D	0	-21.4272	19.8835	0.96906	0.0:1.0:0.0:0.0	.	813	Q8TD26	CHD6_HUMAN	N	813	ENSP00000362330:D813N	ENSP00000362330:D813N	D	-	1	0	CHD6	39545394	1.000000	0.71417	0.992000	0.48379	0.945000	0.59286	7.750000	0.85110	2.777000	0.95525	0.655000	0.94253	GAC	CHD6	-	smart_Helicase_C,pfscan_Helicase_C		0.453	CHD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHD6	HGNC	protein_coding	OTTHUMT00000079270.1	C			40111980	-1	no_errors	ENST00000373233	ensembl	human	known	70_37	missense	SNP	1.000	T
CHD7	55636	genome.wustl.edu	37	8	61750671	61750671	+	Missense_Mutation	SNP	C	C	G			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr8:61750671C>G	ENST00000423902.2	+	19	4869	c.4390C>G	c.(4390-4392)Cta>Gta	p.L1464V	CHD7_ENST00000524602.1_Intron	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	1464	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				adult heart development (GO:0007512)|adult walking behavior (GO:0007628)|artery morphogenesis (GO:0048844)|blood circulation (GO:0008015)|central nervous system development (GO:0007417)|chromatin modification (GO:0016568)|cognition (GO:0050890)|cranial nerve development (GO:0021545)|embryonic hindlimb morphogenesis (GO:0035116)|epithelium development (GO:0060429)|face development (GO:0060324)|female genitalia development (GO:0030540)|genitalia development (GO:0048806)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|inner ear morphogenesis (GO:0042472)|limb development (GO:0060173)|nose development (GO:0043584)|olfactory behavior (GO:0042048)|olfactory bulb development (GO:0021772)|olfactory nerve development (GO:0021553)|palate development (GO:0060021)|positive regulation of multicellular organism growth (GO:0040018)|regulation of growth hormone secretion (GO:0060123)|regulation of neurogenesis (GO:0050767)|regulation of transcription, DNA-templated (GO:0006355)|retina development in camera-type eye (GO:0060041)|rRNA processing (GO:0006364)|semicircular canal morphogenesis (GO:0048752)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|T cell differentiation (GO:0030217)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			AGAGGATCTTCTACGAAAAGG	0.373																																																	0													43.0	39.0	40.0					8																	61750671		1836	4072	5908	SO:0001583	missense	55636			AB037837	CCDS47865.1	8q12.2	2014-09-17				ENSG00000171316			20626	protein-coding gene	gene with protein product		608892	"""CHARGE association"""	CRG		15300250, 18834967	Standard	NM_017780		Approved	KIAA1416, FLJ20357, FLJ20361	uc003xue.3	Q9P2D1		ENST00000423902.2:c.4390C>G	8.37:g.61750671C>G	ENSP00000392028:p.Leu1464Val	Somatic		WXS	Illumina HiSeq	Phase_IV	D0VBA5|E9PNZ2|Q05DI5|Q2TAN4|Q66K35|Q7Z6C0|Q7Z7Q2|Q9NXA0|Q9NXA3	Missense_Mutation	SNP	pfam_SNF2_N,pfam_BRK_domain,pfam_Chromo_domain,pfam_Helicase_C,superfamily_Chromodomain-like,smart_Chromo_domain/shadow,smart_Helicase_ATP-bd,smart_Helicase_C,smart_BRK_domain,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Chromo_domain/shadow	p.L1464V	ENST00000423902.2	37	c.4390	CCDS47865.1	8	.	.	.	.	.	.	.	.	.	.	C	22.8	4.341852	0.81911	.	.	ENSG00000171316	ENST00000307121;ENST00000423902	T	0.78924	-1.22	5.32	5.32	0.75619	Helicase, C-terminal (1);	0.000000	0.64402	D	0.000006	D	0.88217	0.6377	M	0.82323	2.585	0.80722	D	1	D	0.67145	0.996	D	0.87578	0.998	D	0.89417	0.3707	10	0.87932	D	0	-11.0737	13.664	0.62384	0.0:0.9258:0.0:0.0742	.	1464	Q9P2D1	CHD7_HUMAN	V	1464	ENSP00000392028:L1464V	ENSP00000307304:L1464V	L	+	1	2	CHD7	61913225	1.000000	0.71417	0.906000	0.35671	0.999000	0.98932	3.320000	0.51991	2.660000	0.90430	0.655000	0.94253	CTA	CHD7	-	pfscan_Helicase_C		0.373	CHD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHD7	HGNC	protein_coding	OTTHUMT00000383468.2	C	XM_098762		61750671	+1	no_errors	ENST00000307121	ensembl	human	known	70_37	missense	SNP	1.000	G
CHIC1	53344	genome.wustl.edu	37	X	72901073	72901073	+	3'UTR	SNP	C	C	T			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chrX:72901073C>T	ENST00000373502.5	+	0	985				CHIC1_ENST00000373504.6_3'UTR	NM_001039840.2	NP_001034929.2	Q5VXU3	CHIC1_HUMAN	cysteine-rich hydrophobic domain 1							cytoplasmic vesicle (GO:0031410)|plasma membrane (GO:0005886)				endometrium(1)|large_intestine(1)|lung(2)	4	Renal(35;0.156)					TGCGTGTGTGCATATACATAT	0.313																																																	0																																										SO:0001624	3_prime_UTR_variant	53344			Y11897	CCDS35335.2, CCDS75993.1	Xq13.2	2008-05-14			ENSG00000204116	ENSG00000204116			1934	protein-coding gene	gene with protein product		300922				9321471, 11257495	Standard	NM_001039840		Approved	BRX	uc004ebk.4	Q5VXU3	OTTHUMG00000021835	ENST00000373502.5:c.*233C>T	X.37:g.72901073C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A0PJZ2|B0QZ87|B9EGS5|Q5CZ84	RNA	SNP	-	NULL	ENST00000373502.5	37	NULL	CCDS35335.2	X																																																																																			CHIC1	-	-		0.313	CHIC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHIC1	HGNC	protein_coding	OTTHUMT00000057233.3	C			72901073	+1	no_errors	ENST00000498318	ensembl	human	known	70_37	rna	SNP	0.000	T
CHKA	1119	genome.wustl.edu	37	11	67832053	67832053	+	Missense_Mutation	SNP	C	C	T			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr11:67832053C>T	ENST00000265689.4	-	10	1197	c.1171G>A	c.(1171-1173)Gaa>Aaa	p.E391K	CHKA_ENST00000356135.5_Missense_Mutation_p.E373K|CHKA_ENST00000533728.1_5'Flank	NM_001277.2	NP_001268.2	P35790	CHKA_HUMAN	choline kinase alpha	391					CDP-choline pathway (GO:0006657)|choline metabolic process (GO:0019695)|glycerophospholipid biosynthetic process (GO:0046474)|lipid metabolic process (GO:0006629)|lipid transport (GO:0006869)|phosphatidylcholine biosynthetic process (GO:0006656)|phosphatidylethanolamine biosynthetic process (GO:0006646)|phospholipid metabolic process (GO:0006644)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	ATP binding (GO:0005524)|choline binding (GO:0033265)|choline kinase activity (GO:0004103)|cholinesterase activity (GO:0004104)|drug binding (GO:0008144)|ethanolamine kinase activity (GO:0004305)|signal transducer activity (GO:0004871)			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(5)|ovary(1)|skin(1)	13					Choline(DB00122)	CTGAGGTTTTCAAAGTCATTT	0.289																																																	0													75.0	76.0	76.0					11																	67832053		2200	4294	6494	SO:0001583	missense	1119			D10704	CCDS8178.1, CCDS8179.1	11q13.1	2008-02-05	2004-04-19	2004-04-21	ENSG00000110721	ENSG00000110721	2.7.1.32		1937	protein-coding gene	gene with protein product		118491	"""choline kinase"""	CHK		1618328, 15003397	Standard	NM_001277		Approved	CKI	uc001onj.3	P35790	OTTHUMG00000167424	ENST00000265689.4:c.1171G>A	11.37:g.67832053C>T	ENSP00000265689:p.Glu391Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q8NE29	Missense_Mutation	SNP	pfam_Aminoglycoside_PTrfase,pfam_DUF227,superfamily_Kinase-like_dom	p.E391K	ENST00000265689.4	37	c.1171	CCDS8178.1	11	.	.	.	.	.	.	.	.	.	.	C	13.80	2.346038	0.41599	.	.	ENSG00000110721	ENST00000265689;ENST00000356135	T;T	0.58358	0.34;0.34	5.67	3.6	0.41247	Protein kinase-like domain (1);	0.573701	0.18949	N	0.126733	T	0.38321	0.1036	L	0.31157	0.91	0.49483	D	0.999794	B;B	0.09022	0.002;0.001	B;B	0.08055	0.003;0.002	T	0.09443	-1.0674	10	0.27082	T	0.32	-6.8729	10.4316	0.44411	0.1307:0.7952:0.0:0.074	.	373;391	P35790-2;P35790	.;CHKA_HUMAN	K	391;373	ENSP00000265689:E391K;ENSP00000348454:E373K	ENSP00000265689:E391K	E	-	1	0	CHKA	67588629	1.000000	0.71417	0.998000	0.56505	0.916000	0.54674	1.420000	0.34804	0.607000	0.29982	-0.182000	0.12963	GAA	CHKA	-	superfamily_Kinase-like_dom		0.289	CHKA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CHKA	HGNC	protein_coding	OTTHUMT00000394570.1	C	NM_001277		67832053	-1	no_errors	ENST00000265689	ensembl	human	known	70_37	missense	SNP	1.000	T
CHML	1122	genome.wustl.edu	37	1	241798625	241798625	+	Silent	SNP	A	A	G			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr1:241798625A>G	ENST00000366553.1	-	1	607	c.444T>C	c.(442-444)ttT>ttC	p.F148F	OPN3_ENST00000469376.1_Intron|OPN3_ENST00000366554.2_Intron|OPN3_ENST00000331838.5_Intron	NM_001821.3	NP_001812.2	P26374	RAE2_HUMAN	choroideremia-like (Rab escort protein 2)	148					intracellular protein transport (GO:0006886)|protein geranylgeranylation (GO:0018344)	Rab-protein geranylgeranyltransferase complex (GO:0005968)	GTPase activator activity (GO:0005096)|Rab geranylgeranyltransferase activity (GO:0004663)|Rab GTPase binding (GO:0017137)			breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(7)|ovary(4)|skin(3)|stomach(1)	26	Ovarian(103;0.103)|all_lung(81;0.23)	all_cancers(173;0.0231)	OV - Ovarian serous cystadenocarcinoma(106;0.0125)			CGTCGCTATTAAAATACGATA	0.393																																																	0													152.0	153.0	153.0					1																	241798625		2203	4299	6502	SO:0001819	synonymous_variant	1122			X64728	CCDS31073.1	1q43	2013-09-19			ENSG00000203668	ENSG00000203668			1941	protein-coding gene	gene with protein product		118825				7981670	Standard	NM_001821		Approved	REP-2	uc001hzd.3	P26374	OTTHUMG00000039690	ENST00000366553.1:c.444T>C	1.37:g.241798625A>G		Somatic		WXS	Illumina HiSeq	Phase_IV	B2RAB9|Q17RE0|Q9H1Y4	Silent	SNP	pfam_GDP_dissociation_inhibitor,pirsf_Rab_geranylTrfase_A_euk,prints_Rab_escort,prints_GDP_dissociation_inhibitor	p.F148	ENST00000366553.1	37	c.444	CCDS31073.1	1																																																																																			CHML	-	pirsf_Rab_geranylTrfase_A_euk		0.393	CHML-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHML	HGNC	protein_coding	OTTHUMT00000095712.1	A	NM_001821		241798625	-1	no_errors	ENST00000366553	ensembl	human	known	70_37	silent	SNP	0.000	G
CHRM2	1129	genome.wustl.edu	37	7	136700197	136700197	+	Missense_Mutation	SNP	C	C	G			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr7:136700197C>G	ENST00000445907.2	+	3	1113	c.585C>G	c.(583-585)ttC>ttG	p.F195L	hsa-mir-490_ENST00000597642.1_RNA|hsa-mir-490_ENST00000593789.1_RNA|CHRM2_ENST00000397608.3_Missense_Mutation_p.F195L|hsa-mir-490_ENST00000586239.1_RNA|hsa-mir-490_ENST00000598184.1_RNA|hsa-mir-490_ENST00000439694.1_RNA|CHRM2_ENST00000453373.1_Missense_Mutation_p.F195L|CHRM2_ENST00000401861.1_Missense_Mutation_p.F195L|hsa-mir-490_ENST00000592183.1_RNA|CHRM2_ENST00000320658.5_Missense_Mutation_p.F195L|CHRM2_ENST00000402486.3_Missense_Mutation_p.F195L|hsa-mir-490_ENST00000425981.2_RNA	NM_001006627.1|NM_001006629.1	NP_001006628.1|NP_001006630.1	P08172	ACM2_HUMAN	cholinergic receptor, muscarinic 2	195					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|nervous system development (GO:0007399)|phospholipase C-activating G-protein coupled acetylcholine receptor signaling pathway (GO:0007207)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|regulation of heart contraction (GO:0008016)|response to virus (GO:0009615)	cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	G-protein coupled acetylcholine receptor activity (GO:0016907)			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(13)|liver(1)|lung(29)|ovary(4)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	68					Aclidinium(DB08897)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Anisotropine Methylbromide(DB00517)|Aripiprazole(DB01238)|Atropine(DB00572)|Bethanechol(DB01019)|Brompheniramine(DB00835)|Carbachol(DB00411)|Chlorprothixene(DB01239)|Cinnarizine(DB00568)|Clozapine(DB00363)|Cocaine(DB00907)|Cryptenamine(DB00785)|Cyproheptadine(DB00434)|Darifenacin(DB00496)|Desipramine(DB01151)|Dicyclomine(DB00804)|Dimetindene(DB08801)|Diphenidol(DB01231)|Disopyramide(DB00280)|Doxacurium chloride(DB01135)|Doxepin(DB01142)|Ethopropazine(DB00392)|Fesoterodine(DB06702)|Flavoxate(DB01148)|Gallamine Triethiodide(DB00483)|Glycopyrrolate(DB00986)|Homatropine Methylbromide(DB00725)|Hyoscyamine(DB00424)|Imipramine(DB00458)|Ipratropium bromide(DB00332)|Ketamine(DB01221)|Loxapine(DB00408)|Maprotiline(DB00934)|Methotrimeprazine(DB01403)|Methylscopolamine bromide(DB00462)|Metixene(DB00340)|Metocurine(DB01336)|Mivacurium(DB01226)|Nicardipine(DB00622)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Oxybutynin(DB01062)|Oxyphencyclimine(DB00383)|Pancuronium(DB01337)|Paroxetine(DB00715)|Pethidine(DB00454)|Pilocarpine(DB01085)|Pipecuronium(DB01338)|Procyclidine(DB00387)|Promazine(DB00420)|Promethazine(DB01069)|Propiomazine(DB00777)|Quetiapine(DB01224)|Rocuronium(DB00728)|Scopolamine(DB00747)|Solifenacin(DB01591)|Succinylcholine(DB00202)|Tiotropium(DB01409)|Tolterodine(DB01036)|Triflupromazine(DB00508)|Trihexyphenidyl(DB00376)|Trimipramine(DB00726)|Tropicamide(DB00809)|Ziprasidone(DB00246)	TTGCAGCCTTCTATTTGCCAG	0.483																																																	0													76.0	68.0	71.0					7																	136700197		2203	4300	6503	SO:0001583	missense	1129				CCDS5843.1	7q35-q36	2014-09-17			ENSG00000181072	ENSG00000181072		"""Cholinergic receptors"", ""GPCR / Class A : Cholinergic receptors, muscarinic"""	1951	protein-coding gene	gene with protein product	"""acetylcholine receptor, muscarinic 2"""	118493					Standard	NM_000739		Approved		uc003vtl.1	P08172	OTTHUMG00000155658	ENST00000445907.2:c.585C>G	7.37:g.136700197C>G	ENSP00000399745:p.Phe195Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	Q4VBK6|Q9P1X9	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Musac_M2_rcpt,prints_Musac_rcpt,prints_GPCR_Rhodpsn	p.F195L	ENST00000445907.2	37	c.585	CCDS5843.1	7	.	.	.	.	.	.	.	.	.	.	C	18.09	3.545505	0.65198	.	.	ENSG00000181072	ENST00000445907;ENST00000453373;ENST00000320658;ENST00000397608;ENST00000402486;ENST00000401861	T;T;T;T;T;T	0.76578	-1.03;-1.03;-1.03;-1.03;-1.03;-1.03	5.51	5.51	0.81932	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	D	0.89570	0.6753	M	0.91140	3.18	0.58432	D	0.999999	D	0.56035	0.974	P	0.58130	0.833	D	0.91613	0.5304	10	0.87932	D	0	-0.8944	19.4315	0.94772	0.0:1.0:0.0:0.0	.	195	P08172	ACM2_HUMAN	L	195	ENSP00000399745:F195L;ENSP00000415386:F195L;ENSP00000319984:F195L;ENSP00000380733:F195L;ENSP00000384937:F195L;ENSP00000384401:F195L	ENSP00000319984:F195L	F	+	3	2	CHRM2	136350737	1.000000	0.71417	1.000000	0.80357	0.888000	0.51559	3.881000	0.56152	2.600000	0.87896	0.655000	0.94253	TTC	CHRM2	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn		0.483	CHRM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHRM2	HGNC	protein_coding	OTTHUMT00000341010.1	C			136700197	+1	no_errors	ENST00000320658	ensembl	human	known	70_37	missense	SNP	1.000	G
CHUK	1147	genome.wustl.edu	37	10	101953149	101953149	+	Missense_Mutation	SNP	C	C	G			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr10:101953149C>G	ENST00000370397.7	-	19	2100	c.2014G>C	c.(2014-2016)Gaa>Caa	p.E672Q	RP11-316M21.7_ENST00000443919.1_RNA|CHUK_ENST00000590930.1_5'UTR	NM_001278.3	NP_001269.3	O15111	IKKA_HUMAN	conserved helix-loop-helix ubiquitous kinase	672					anatomical structure morphogenesis (GO:0009653)|cellular response to tumor necrosis factor (GO:0071356)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|I-kappaB phosphorylation (GO:0007252)|immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|lactation (GO:0007595)|mammary gland alveolus development (GO:0060749)|mammary gland epithelial cell proliferation (GO:0033598)|morphogenesis of an epithelial sheet (GO:0002011)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|odontogenesis of dentin-containing tooth (GO:0042475)|osteoclast differentiation (GO:0030316)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|protein phosphorylation (GO:0006468)|response to amino acid (GO:0043200)|response to drug (GO:0042493)|response to hydroperoxide (GO:0033194)|response to lipopolysaccharide (GO:0032496)|response to toxic substance (GO:0009636)|response to virus (GO:0009615)|Rho protein signal transduction (GO:0007266)|skeletal muscle contraction (GO:0003009)|striated muscle cell differentiation (GO:0051146)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	CD40 receptor complex (GO:0035631)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|IkappaB kinase complex (GO:0008385)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	ATP binding (GO:0005524)|IkappaB kinase activity (GO:0008384)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|scaffold protein binding (GO:0097110)			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(9)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(1)	27		Colorectal(252;0.117)		Epithelial(162;2.05e-10)|all cancers(201;1.91e-08)	Acetylcysteine(DB06151)|Aminosalicylic Acid(DB00233)|Mesalazine(DB00244)|Sulfasalazine(DB00795)	ACTGCACCTTCTAGACTGGAT	0.473																																					Ovarian(159;52 1904 10536 35305 37148)												0													109.0	94.0	99.0					10																	101953149		2203	4300	6503	SO:0001583	missense	1147			AF009225	CCDS7488.1	10q24-q25	2008-08-01			ENSG00000213341	ENSG00000213341			1974	protein-coding gene	gene with protein product		600664		TCF16		7558004, 16902410	Standard	XR_246062		Approved	IKK1, IKK-alpha, IkBKA, NFKBIKA, IKKA	uc001kqp.3	O15111	OTTHUMG00000018899	ENST00000370397.7:c.2014G>C	10.37:g.101953149C>G	ENSP00000359424:p.Glu672Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	O14666|Q13132|Q5W0I4|Q92467	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_IKKbetaNEMObind,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.E672Q	ENST00000370397.7	37	c.2014	CCDS7488.1	10	.	.	.	.	.	.	.	.	.	.	C	14.14	2.447631	0.43429	.	.	ENSG00000213341	ENST00000370397	T	0.73363	-0.74	5.84	5.84	0.93424	.	0.050850	0.85682	D	0.000000	T	0.73289	0.3568	M	0.61703	1.905	0.53005	D	0.999961	B	0.23442	0.085	B	0.17098	0.017	T	0.69431	-0.5147	10	0.49607	T	0.09	-11.4409	17.6473	0.88152	0.0:1.0:0.0:0.0	.	672	O15111	IKKA_HUMAN	Q	672	ENSP00000359424:E672Q	ENSP00000359424:E672Q	E	-	1	0	CHUK	101943139	1.000000	0.71417	1.000000	0.80357	0.586000	0.36452	5.946000	0.70234	2.764000	0.94973	0.650000	0.86243	GAA	CHUK	-	NULL		0.473	CHUK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHUK	HGNC	protein_coding	OTTHUMT00000049836.1	C	NM_001278		101953149	-1	no_errors	ENST00000370397	ensembl	human	known	70_37	missense	SNP	1.000	G
CIC	23152	genome.wustl.edu	37	19	42791514	42791514	+	Silent	SNP	G	G	A			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr19:42791514G>A	ENST00000575354.2	+	4	535	c.495G>A	c.(493-495)ccG>ccA	p.P165P	CIC_ENST00000572681.2_Silent_p.P1074P|CIC_ENST00000160740.3_Silent_p.P165P	NM_015125.3	NP_055940.3	Q96RK0	CIC_HUMAN	capicua transcriptional repressor	165					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			autonomic_ganglia(1)|breast(5)|central_nervous_system(32)|endometrium(10)|kidney(2)|large_intestine(7)|lung(9)|ovary(7)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	82		Prostate(69;0.00682)				TGCCTCTACCGCCCGGAAAAC	0.597			"""Mis, F, S"""		oligodendroglioma																																			Rec	yes		19	19q13.2	23152	capicua homolog		O	0													116.0	111.0	113.0					19																	42791514		2203	4300	6503	SO:0001819	synonymous_variant	23152			AB002304	CCDS12601.1	19q13.2	2013-03-15	2013-03-15		ENSG00000079432	ENSG00000079432			14214	protein-coding gene	gene with protein product		612082	"""capicua (Drosophila) homolog"", ""capicua homolog (Drosophila)"""			12393275, 15981098	Standard	NM_015125		Approved	KIAA0306	uc002otf.1	Q96RK0		ENST00000575354.2:c.495G>A	19.37:g.42791514G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q7LGI1|Q9UEG5|Q9Y6T1	Silent	SNP	pfam_HMG_superfamily,superfamily_HMG_superfamily,smart_HMG_superfamily,pfscan_HMG_superfamily	p.P165	ENST00000575354.2	37	c.495	CCDS12601.1	19																																																																																			CIC	-	NULL		0.597	CIC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CIC	HGNC	protein_coding	OTTHUMT00000438532.2	G			42791514	+1	no_errors	ENST00000160740	ensembl	human	known	70_37	silent	SNP	0.991	A
CLCC1	23155	genome.wustl.edu	37	1	109477372	109477372	+	Missense_Mutation	SNP	C	C	G			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr1:109477372C>G	ENST00000369971.2	-	11	1705	c.1576G>C	c.(1576-1578)Gac>Cac	p.D526H	CLCC1_ENST00000415331.1_Missense_Mutation_p.D476H|CLCC1_ENST00000369976.1_Intron|CLCC1_ENST00000302500.4_Missense_Mutation_p.D405H|CLCC1_ENST00000348264.2_Missense_Mutation_p.D341H|AKNAD1_ENST00000357393.4_Intron|CLCC1_ENST00000369969.2_Missense_Mutation_p.D405H|CLCC1_ENST00000356970.2_Missense_Mutation_p.D526H|CLCC1_ENST00000369970.3_Missense_Mutation_p.D476H|CLCC1_ENST00000482889.1_Intron|CLCC1_ENST00000369968.2_Missense_Mutation_p.D341H	NM_001048210.1	NP_001041675.1	Q96S66	CLCC1_HUMAN	chloride channel CLIC-like 1	526						chloride channel complex (GO:0034707)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)	chloride channel activity (GO:0005254)			autonomic_ganglia(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|liver(1)|skin(1)	14		all_epithelial(167;0.000114)|all_lung(203;0.000321)|Lung NSC(277;0.000626)		Colorectal(144;0.0314)|Lung(183;0.0924)|COAD - Colon adenocarcinoma(174;0.119)|Epithelial(280;0.231)		CTGCCTTGGTCTGGGCTGCCT	0.607																																																	0													117.0	106.0	110.0					1																	109477372		2203	4300	6503	SO:0001583	missense	23155			AB018304	CCDS793.1, CCDS41362.1, CCDS60214.1, CCDS60215.1	1p13.3	2008-02-05			ENSG00000121940	ENSG00000121940			29675	protein-coding gene	gene with protein product	"""Mid1-related chloride channel (yeast)"""					9872452, 11279057	Standard	NM_001048210		Approved	MCLC	uc001dwf.2	Q96S66	OTTHUMG00000011732	ENST00000369971.2:c.1576G>C	1.37:g.109477372C>G	ENSP00000358988:p.Asp526His	Somatic		WXS	Illumina HiSeq	Phase_IV	O94861|Q8WYP8|Q8WYP9|Q9BU25	Missense_Mutation	SNP	pfam_Chloride_chnl_CLIC-like	p.D526H	ENST00000369971.2	37	c.1576	CCDS41362.1	1	.	.	.	.	.	.	.	.	.	.	C	11.80	1.745511	0.30955	.	.	ENSG00000121940	ENST00000356970;ENST00000369971;ENST00000415331;ENST00000369969;ENST00000369968;ENST00000369970;ENST00000348264;ENST00000302500	T;T;T;T;T;T;T;T	0.55052	0.54;0.54;0.54;0.54;0.54;0.54;0.54;0.54	4.68	-5.23	0.02798	.	1.875720	0.02445	N	0.085005	T	0.08626	0.0214	N	0.02011	-0.69	0.09310	N	1	B;B;B;B	0.14805	0.011;0.011;0.001;0.003	B;B;B;B	0.09377	0.004;0.004;0.002;0.003	T	0.23511	-1.0186	10	0.66056	D	0.02	1.8032	4.8045	0.13314	0.1136:0.1928:0.5288:0.1647	.	341;405;476;526	Q96S66-4;Q96S66-3;Q96S66-2;Q96S66	.;.;.;CLCC1_HUMAN	H	526;526;476;405;341;476;341;405	ENSP00000349456:D526H;ENSP00000358988:D526H;ENSP00000411591:D476H;ENSP00000358986:D405H;ENSP00000358985:D341H;ENSP00000358987:D476H;ENSP00000337243:D341H;ENSP00000306552:D405H	ENSP00000306552:D405H	D	-	1	0	CLCC1	109278895	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.398000	0.07259	-0.485000	0.06754	0.563000	0.77884	GAC	CLCC1	-	pfam_Chloride_chnl_CLIC-like		0.607	CLCC1-203	KNOWN	basic|appris_principal|CCDS	protein_coding	CLCC1	HGNC	protein_coding	OTTHUMT00000032405.1	C	NM_015127		109477372	-1	no_errors	ENST00000356970	ensembl	human	known	70_37	missense	SNP	0.000	G
CLCN2	1181	genome.wustl.edu	37	3	184071119	184071119	+	Missense_Mutation	SNP	C	C	T			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr3:184071119C>T	ENST00000265593.4	-	17	2118	c.1947G>A	c.(1945-1947)atG>atA	p.M649I	CLCN2_ENST00000475279.1_5'Flank|CLCN2_ENST00000434054.2_Missense_Mutation_p.M605I|CLCN2_ENST00000457512.1_Missense_Mutation_p.M649I|CLCN2_ENST00000344937.7_Missense_Mutation_p.M632I|CLCN2_ENST00000423355.2_3'UTR|EIF2B5_ENST00000444495.1_Intron	NM_004366.5	NP_004357.3	P51788	CLCN2_HUMAN	chloride channel, voltage-sensitive 2	649					cell differentiation involved in salivary gland development (GO:0060689)|ion transmembrane transport (GO:0034220)|regulation of anion transport (GO:0044070)|retina development in camera-type eye (GO:0060041)|transmembrane transport (GO:0055085)|transport (GO:0006810)	chloride channel complex (GO:0034707)|plasma membrane (GO:0005886)	adenyl nucleotide binding (GO:0030554)|voltage-gated chloride channel activity (GO:0005247)			breast(2)|central_nervous_system(4)|endometrium(1)|kidney(3)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	27	all_cancers(143;6.66e-11)|Ovarian(172;0.0339)		Epithelial(37;2.22e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		Lubiprostone(DB01046)	TGCGCTCCTGCATGTGCTGCC	0.622																																																	0													52.0	56.0	54.0					3																	184071119		2203	4300	6503	SO:0001583	missense	1181			S77770	CCDS3263.1, CCDS54690.1, CCDS54691.1, CCDS54692.1	3q27.1	2013-09-19	2012-02-23		ENSG00000114859	ENSG00000114859		"""Ion channels / Chloride channels : Voltage-sensitive"""	2020	protein-coding gene	gene with protein product		600570	"""chloride channel 2"""			7795595	Standard	NM_004366		Approved	CLC2, EJM6, ClC-2	uc003foi.4	P51788	OTTHUMG00000156747	ENST00000265593.4:c.1947G>A	3.37:g.184071119C>T	ENSP00000265593:p.Met649Ile	Somatic		WXS	Illumina HiSeq	Phase_IV	B4DQT9|B4DZ58|E9PBD9|E9PCD2|O14864|Q6IPA9|Q8WU13	Missense_Mutation	SNP	pfam_Cl-channel_volt-gated,pfam_Cysta_beta_synth_core,superfamily_Cl-channel_core,prints_Cl-channel_volt-gated,prints_Cl-channel-2	p.M649I	ENST00000265593.4	37	c.1947	CCDS3263.1	3	.	.	.	.	.	.	.	.	.	.	c	12.34	1.908160	0.33721	.	.	ENSG00000114859	ENST00000265593;ENST00000344937;ENST00000434054;ENST00000457512	D;D;D;D	0.84223	-1.77;-1.71;-1.82;-1.81	5.62	2.86	0.33363	.	0.586626	0.19090	N	0.122993	T	0.73329	0.3573	L	0.29908	0.895	0.80722	D	1	B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0	B;B;B;B;B	0.04013	0.0;0.0;0.001;0.0;0.0	T	0.64478	-0.6398	10	0.38643	T	0.18	-6.8933	5.3926	0.16251	0.1414:0.6353:0.0:0.2233	.	605;649;632;649;605	E9PBD9;E9PCD2;P51788-3;P51788;B4DZ58	.;.;.;CLCN2_HUMAN;.	I	649;632;605;649	ENSP00000265593:M649I;ENSP00000345056:M632I;ENSP00000400425:M605I;ENSP00000391928:M649I	ENSP00000265593:M649I	M	-	3	0	CLCN2	185553813	0.995000	0.38212	0.145000	0.22337	0.250000	0.25880	0.459000	0.21908	0.738000	0.32606	0.563000	0.77884	ATG	CLCN2	-	NULL		0.622	CLCN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CLCN2	HGNC	protein_coding	OTTHUMT00000345571.1	C			184071119	-1	no_errors	ENST00000265593	ensembl	human	known	70_37	missense	SNP	0.990	T
CLCNKA	1187	genome.wustl.edu	37	1	16349179	16349179	+	Frame_Shift_Del	DEL	G	G	-			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr1:16349179delG	ENST00000331433.4	+	2	84	c.65delG	c.(64-66)tggfs	p.W22fs	CLCNKA_ENST00000464764.1_3'UTR|CLCNKA_ENST00000439316.2_Frame_Shift_Del_p.W22fs|CLCNKA_ENST00000375692.1_Frame_Shift_Del_p.W22fs|CLCNKA_ENST00000420078.1_Frame_Shift_Del_p.W22fs			P51800	CLCKA_HUMAN	chloride channel, voltage-sensitive Ka	22					excretion (GO:0007588)|ion transmembrane transport (GO:0034220)|regulation of anion transport (GO:0044070)|transmembrane transport (GO:0055085)|transport (GO:0006810)	chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	adenyl nucleotide binding (GO:0030554)|metal ion binding (GO:0046872)|voltage-gated chloride channel activity (GO:0005247)			breast(1)|kidney(1)|large_intestine(2)|lung(12)|ovary(2)|skin(1)	19		Colorectal(325;3.46e-05)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0221)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|Colorectal(212;8.04e-08)|COAD - Colon adenocarcinoma(227;5.46e-06)|BRCA - Breast invasive adenocarcinoma(304;9.02e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(313;0.00655)|READ - Rectum adenocarcinoma(331;0.0649)	Niflumic Acid(DB04552)	CAGGAGCTGTGGGGCCCCTGT	0.657																																																	0													41.0	39.0	40.0					1																	16349179		2193	4275	6468	SO:0001589	frameshift_variant	1187				CCDS167.1, CCDS41269.1, CCDS57973.1	1p36	2012-09-26	2012-02-23		ENSG00000186510	ENSG00000186510		"""Ion channels / Chloride channels : Voltage-sensitive"""	2026	protein-coding gene	gene with protein product		602024	"""chloride channel Ka"""			8544406	Standard	NM_004070		Approved	hClC-Ka	uc001axu.3	P51800	OTTHUMG00000009529	ENST00000331433.4:c.65delG	1.37:g.16349179delG	ENSP00000332771:p.Trp22fs	Somatic		WXS	Illumina HiSeq	Phase_IV	B4DPD3|E7EPH6|Q5T5P8|Q5T5Q4|Q7Z6D1|Q86VT1	Frame_Shift_Del	DEL	pfam_Cl-channel_volt-gated,pfam_Cysta_beta_synth_core,superfamily_Cl-channel_core,smart_Cysta_beta_synth_core,prints_Cl-channel_volt-gated,prints_Cl_channel-K	p.G23fs	ENST00000331433.4	37	c.65	CCDS167.1	1																																																																																			CLCNKA	-	NULL		0.657	CLCNKA-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CLCNKA	HGNC	protein_coding	OTTHUMT00000026326.1	G			16349179	+1	no_errors	ENST00000331433	ensembl	human	known	70_37	frame_shift_del	DEL	0.997	-
CLDN10	9071	genome.wustl.edu	37	13	96086290	96086290	+	Missense_Mutation	SNP	T	T	G			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr13:96086290T>G	ENST00000376873.3	+	1	433	c.203T>G	c.(202-204)tTc>tGc	p.F68C		NM_001160100.1|NM_182848.3	NP_001153572.1|NP_878268.1	P78369	CLD10_HUMAN	claudin 10	70					calcium-independent cell-cell adhesion (GO:0016338)|cell adhesion (GO:0007155)|ion transport (GO:0006811)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	identical protein binding (GO:0042802)|structural molecule activity (GO:0005198)			endometrium(1)|kidney(2)|large_intestine(4)|lung(6)|ovary(1)|skin(1)	15	all_neural(89;0.0878)|Breast(111;0.148)|Medulloblastoma(90;0.163)		BRCA - Breast invasive adenocarcinoma(86;0.18)			TTTACTATCTTCAAAGTAGCA	0.478																																																	0													81.0	81.0	81.0					13																	96086290		2203	4300	6503	SO:0001583	missense	9071			U89916	CCDS9475.1, CCDS9476.1	13q31-q34	2008-07-18			ENSG00000134873	ENSG00000134873		"""Claudins"""	2033	protein-coding gene	gene with protein product						18025272	Standard	NM_182848		Approved	OSP-L, CPETRL3	uc001vmh.2	P78369	OTTHUMG00000017217	ENST00000376873.3:c.203T>G	13.37:g.96086290T>G	ENSP00000366069:p.Phe68Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q6IBF9|Q96N78	Missense_Mutation	SNP	pfam_PMP22/EMP/MP20/Claudin,prints_Claudin,prints_Claudin10	p.F68C	ENST00000376873.3	37	c.203	CCDS9475.1	13	.	.	.	.	.	.	.	.	.	.	T	22.5	4.303145	0.81136	.	.	ENSG00000134873	ENST00000376873	D	0.89270	-2.49	5.24	5.24	0.73138	.	.	.	.	.	D	0.93035	0.7783	.	.	.	0.80722	D	1	D	0.58970	0.984	P	0.59115	0.852	D	0.93886	0.7175	8	0.87932	D	0	.	13.9985	0.64419	0.0:0.0:0.0:1.0	.	68	Q96N78	.	C	68	ENSP00000366069:F68C	ENSP00000366069:F68C	F	+	2	0	CLDN10	94884291	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	7.355000	0.79434	2.103000	0.63969	0.460000	0.39030	TTC	CLDN10	-	pfam_PMP22/EMP/MP20/Claudin		0.478	CLDN10-001	KNOWN	basic|CCDS	protein_coding	CLDN10	HGNC	protein_coding	OTTHUMT00000045483.3	T	NM_006984		96086290	+1	no_errors	ENST00000376873	ensembl	human	known	70_37	missense	SNP	1.000	G
CLEC14A	161198	genome.wustl.edu	37	14	38724897	38724897	+	Missense_Mutation	SNP	G	G	A			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr14:38724897G>A	ENST00000342213.2	-	1	677	c.331C>T	c.(331-333)Cgg>Tgg	p.R111W		NM_175060.2	NP_778230.1	Q86T13	CLC14_HUMAN	C-type lectin domain family 14, member A	111	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.					extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			breast(1)|cervix(2)|endometrium(2)|large_intestine(7)|lung(9)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	33	Hepatocellular(127;0.213)|Esophageal squamous(585;0.22)		Lung(238;3.93e-06)|LUAD - Lung adenocarcinoma(48;2.62e-05)|Epithelial(34;0.187)	GBM - Glioblastoma multiforme(112;0.00439)		GAGAAACCCCGCAAAGGCTCG	0.697																																																	0													19.0	25.0	23.0					14																	38724897		2193	4284	6477	SO:0001583	missense	161198				CCDS9667.1	14q21.1	2010-04-27	2005-02-11	2005-02-11	ENSG00000176435	ENSG00000176435		"""C-type lectin domain containing"""	19832	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 27"""	C14orf27			Standard	NM_175060		Approved		uc001wum.2	Q86T13	OTTHUMG00000140248	ENST00000342213.2:c.331C>T	14.37:g.38724897G>A	ENSP00000353013:p.Arg111Trp	Somatic		WXS	Illumina HiSeq	Phase_IV	Q695G9|Q6PWT6|Q8N5V5	Missense_Mutation	SNP	superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin	p.R111W	ENST00000342213.2	37	c.331	CCDS9667.1	14	.	.	.	.	.	.	.	.	.	.	G	19.53	3.845045	0.71603	.	.	ENSG00000176435	ENST00000342213	T	0.55930	0.49	3.91	2.98	0.34508	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (2);	0.136438	0.29066	N	0.013246	T	0.62768	0.2455	L	0.46157	1.445	0.38247	D	0.941489	D	0.89917	1.0	D	0.91635	0.999	T	0.67522	-0.5649	10	0.87932	D	0	-16.6368	10.29	0.43590	0.0:0.0:0.7935:0.2065	.	111	Q86T13	CLC14_HUMAN	W	111	ENSP00000353013:R111W	ENSP00000353013:R111W	R	-	1	2	CLEC14A	37794648	0.996000	0.38824	0.986000	0.45419	0.963000	0.63663	1.312000	0.33574	1.172000	0.42781	0.591000	0.81541	CGG	CLEC14A	-	superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin		0.697	CLEC14A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLEC14A	HGNC	protein_coding	OTTHUMT00000276729.1	G	NM_175060		38724897	-1	no_errors	ENST00000342213	ensembl	human	known	70_37	missense	SNP	0.992	A
CLEC16A	23274	genome.wustl.edu	37	16	11154829	11154829	+	Missense_Mutation	SNP	C	C	T			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr16:11154829C>T	ENST00000409790.1	+	19	2296	c.2066C>T	c.(2065-2067)cCg>cTg	p.P689L	CLEC16A_ENST00000409552.3_Missense_Mutation_p.P671L|CLEC16A_ENST00000465491.1_3'UTR	NM_015226.2	NP_056041.1			C-type lectin domain family 16, member A									p.0?(1)		breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						ACACAGTTGCCGCTGACTCGG	0.572																																																	1	Whole gene deletion(1)	haematopoietic_and_lymphoid_tissue(1)											146.0	158.0	154.0					16																	11154829		2196	4300	6496	SO:0001583	missense	23274			AB002348	CCDS45409.1, CCDS58423.1	16p13.13	2010-04-27	2007-07-17	2007-07-17	ENSG00000038532	ENSG00000038532		"""C-type lectin domain containing"""	29013	protein-coding gene	gene with protein product		611303	"""KIAA0350"""	KIAA0350		9205841, 17632545	Standard	NM_015226		Approved	Gop-1	uc002dao.3	Q2KHT3	OTTHUMG00000152915	ENST00000409790.1:c.2066C>T	16.37:g.11154829C>T	ENSP00000387122:p.Pro689Leu	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_Uncharacterised_FPL	p.P689L	ENST00000409790.1	37	c.2066	CCDS45409.1	16	.	.	.	.	.	.	.	.	.	.	C	26.3	4.724408	0.89298	.	.	ENSG00000038532	ENST00000409790;ENST00000542102;ENST00000409552	T	0.70631	-0.5	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	D	0.84942	0.5584	M	0.83118	2.625	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	D	0.86469	0.1784	10	0.72032	D	0.01	-16.2364	15.3023	0.73962	0.0:1.0:0.0:0.0	.	689;671	Q2KHT3;Q2KHT3-2	CL16A_HUMAN;.	L	689;689;671	ENSP00000387122:P689L	ENSP00000386495:P671L	P	+	2	0	CLEC16A	11062330	1.000000	0.71417	0.967000	0.41034	0.838000	0.47535	6.671000	0.74472	2.756000	0.94617	0.563000	0.77884	CCG	CLEC16A	-	NULL		0.572	CLEC16A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLEC16A	HGNC	protein_coding	OTTHUMT00000328540.2	C	NM_015226		11154829	+1	no_errors	ENST00000409790	ensembl	human	known	70_37	missense	SNP	0.998	T
CLEC1B	51266	genome.wustl.edu	37	12	10151671	10151671	+	Missense_Mutation	SNP	A	A	G			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr12:10151671A>G	ENST00000298527.6	-	1	208	c.29T>C	c.(28-30)tTa>tCa	p.L10S	CLEC1B_ENST00000348658.4_Missense_Mutation_p.L10S|CLEC1B_ENST00000428126.2_Missense_Mutation_p.L10S	NM_016509.3	NP_057593.3	Q9P126	CLC1B_HUMAN	C-type lectin domain family 1, member B	10					cell surface receptor signaling pathway (GO:0007166)|defense response (GO:0006952)|platelet formation (GO:0030220)	integral component of plasma membrane (GO:0005887)	carbohydrate binding (GO:0030246)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(1)|central_nervous_system(1)|large_intestine(2)|lung(12)|stomach(1)|urinary_tract(1)	19						TTTAATATTTAAGGTGATGTA	0.358																																																	0													226.0	214.0	217.0					12																	10151671		1865	4098	5963	SO:0001583	missense	51266			AF124841	CCDS41751.1, CCDS41752.1	12p13.31	2006-04-12				ENSG00000165682		"""C-type lectin domain containing"""	24356	protein-coding gene	gene with protein product		606783				10671229, 11745369	Standard	NM_016509		Approved	CLEC2	uc001qwu.3	Q9P126		ENST00000298527.6:c.29T>C	12.37:g.10151671A>G	ENSP00000298527:p.Leu10Ser	Somatic		WXS	Illumina HiSeq	Phase_IV	Q6UWX7|Q8NHR6	Missense_Mutation	SNP	pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin	p.L10S	ENST00000298527.6	37	c.29	CCDS41752.1	12	.	.	.	.	.	.	.	.	.	.	A	14.85	2.657802	0.47467	.	.	ENSG00000165682	ENST00000428126;ENST00000298527;ENST00000348658	T;T;T	0.03301	3.98;4.38;3.98	5.67	5.67	0.87782	.	0.000000	0.41396	D	0.000897	T	0.19967	0.0480	M	0.85197	2.74	0.29986	N	0.817275	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.976	T	0.08659	-1.0711	10	0.87932	D	0	.	12.3122	0.54935	1.0:0.0:0.0:0.0	.	10;10	Q9P126-2;Q9P126	.;CLC1B_HUMAN	S	10	ENSP00000406338:L10S;ENSP00000298527:L10S;ENSP00000327169:L10S	ENSP00000298527:L10S	L	-	2	0	CLEC1B	10042938	0.810000	0.29049	0.239000	0.24122	0.290000	0.27261	4.085000	0.57657	2.164000	0.68074	0.533000	0.62120	TTA	CLEC1B	-	NULL		0.358	CLEC1B-005	KNOWN	basic|appris_principal|CCDS	protein_coding	CLEC1B	HGNC	protein_coding	OTTHUMT00000399922.1	A	NM_016509		10151671	-1	no_errors	ENST00000298527	ensembl	human	known	70_37	missense	SNP	0.813	G
CLIP3	25999	genome.wustl.edu	37	19	36518143	36518143	+	Missense_Mutation	SNP	G	G	A			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr19:36518143G>A	ENST00000360535.4	-	3	424	c.197C>T	c.(196-198)gCg>gTg	p.A66V	AC002116.7_ENST00000586962.1_RNA|CLIP3_ENST00000593074.1_Missense_Mutation_p.A66V	NM_015526.2	NP_056341.1	Q96DZ5	CLIP3_HUMAN	CAP-GLY domain containing linker protein 3	66					chaperone-mediated protein transport (GO:0072321)|fat cell differentiation (GO:0045444)|membrane biogenesis (GO:0044091)|negative regulation of microtubule polymerization (GO:0031115)|peptidyl-L-cysteine S-palmitoylation (GO:0018230)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endocytosis (GO:0045807)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of glucose transport (GO:0010828)|positive regulation of protein phosphorylation (GO:0001934)	early endosome membrane (GO:0031901)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|recycling endosome membrane (GO:0055038)|trans-Golgi network (GO:0005802)|trans-Golgi network membrane (GO:0032588)	ganglioside binding (GO:0035594)|microtubule binding (GO:0008017)			cervix(1)|endometrium(6)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	23	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			CTCCTGGCACGCCGGGTCATT	0.597																																																	0													105.0	88.0	94.0					19																	36518143		2203	4300	6503	SO:0001583	missense	25999			AJ427922	CCDS12486.1	19q13.12	2014-08-12			ENSG00000105270	ENSG00000105270		"""Ankyrin repeat domain containing"""	24314	protein-coding gene	gene with protein product	"""CLIP-170-related"", ""restin-like 1"""	607382				11854307	Standard	NM_015526		Approved	CLIPR-59, RSNL1	uc002ocz.2	Q96DZ5	OTTHUMG00000181747	ENST00000360535.4:c.197C>T	19.37:g.36518143G>A	ENSP00000353732:p.Ala66Val	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K0E4|Q8WWL1|Q96C99|Q9UFT7	Missense_Mutation	SNP	pfam_CAP-Gly_domain,pfam_Ankyrin_rpt,superfamily_CAP-Gly_domain,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_CAP-Gly_domain	p.A66V	ENST00000360535.4	37	c.197	CCDS12486.1	19	.	.	.	.	.	.	.	.	.	.	G	34	5.294909	0.95546	.	.	ENSG00000105270	ENST00000360535;ENST00000534959	T	0.72282	-0.64	5.16	5.16	0.70880	.	0.000000	0.85682	D	0.000000	T	0.75997	0.3926	L	0.44542	1.39	0.80722	D	1	D	0.76494	0.999	P	0.58172	0.834	T	0.77950	-0.2395	10	0.66056	D	0.02	-26.9485	16.1844	0.81939	0.0:0.0:1.0:0.0	.	66	Q96DZ5	CLIP3_HUMAN	V	66;42	ENSP00000353732:A66V	ENSP00000353732:A66V	A	-	2	0	CLIP3	41209983	1.000000	0.71417	0.560000	0.28344	0.985000	0.73830	7.490000	0.81461	2.684000	0.91462	0.557000	0.71058	GCG	CLIP3	-	NULL		0.597	CLIP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLIP3	HGNC	protein_coding	OTTHUMT00000457426.1	G	NM_015526		36518143	-1	no_errors	ENST00000360535	ensembl	human	known	70_37	missense	SNP	0.998	A
CLK2	1196	genome.wustl.edu	37	1	155238500	155238500	+	Splice_Site	SNP	T	T	A			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr1:155238500T>A	ENST00000368361.4	-	4	801	c.486A>T	c.(484-486)cgA>cgT	p.R162R	CLK2_ENST00000355560.4_Splice_Site_p.R160R|CLK2_ENST00000361168.5_Splice_Site_p.R161R|CLK2_ENST00000536801.1_Splice_Site_p.R162R|CLK2_ENST00000497188.1_5'UTR			P49760	CLK2_HUMAN	CDC-like kinase 2	162					negative regulation of gluconeogenesis (GO:0045721)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of RNA splicing (GO:0043484)|response to ionizing radiation (GO:0010212)|response to retinoic acid (GO:0032526)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)			endometrium(4)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	22	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			GGCTTGTACATCGCTCTTGTA	0.562								Other conserved DNA damage response genes																																									0													140.0	112.0	122.0					1																	155238500		2203	4300	6503	SO:0001630	splice_region_variant	1196			L29218	CCDS1107.1, CCDS72939.1	1q21	2008-05-02			ENSG00000176444	ENSG00000176444		"""CDC-like kinases"""	2069	protein-coding gene	gene with protein product		602989				7990150, 9856501	Standard	XM_005244876		Approved	clk2	uc001fjw.3	P49760	OTTHUMG00000035873	ENST00000368361.4:c.487+1A>T	1.37:g.155238500T>A		Somatic		WXS	Illumina HiSeq	Phase_IV	B1AVS9|B5MBX6|Q96CQ0	Silent	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.R162	ENST00000368361.4	37	c.486		1																																																																																			CLK2	-	superfamily_Kinase-like_dom		0.562	CLK2-001	KNOWN	basic|appris_candidate_longest	protein_coding	CLK2	HGNC	protein_coding	OTTHUMT00000087391.1	T	NM_003993	Silent	155238500	-1	no_errors	ENST00000368361	ensembl	human	known	70_37	silent	SNP	1.000	A
CLTCL1	8218	genome.wustl.edu	37	22	19207507	19207507	+	Missense_Mutation	SNP	C	C	G			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr22:19207507C>G	ENST00000263200.10	-	18	2878	c.2806G>C	c.(2806-2808)Gag>Cag	p.E936Q	CLTCL1_ENST00000353891.5_Missense_Mutation_p.E936Q|CLTCL1_ENST00000427926.1_Missense_Mutation_p.E936Q	NM_007098.3	NP_009029.3	P53675	CLH2_HUMAN	clathrin, heavy chain-like 1	936	Heavy chain arm.|Proximal segment.				anatomical structure morphogenesis (GO:0009653)|intracellular protein transport (GO:0006886)|mitotic nuclear division (GO:0007067)|positive regulation of glucose import (GO:0046326)|receptor-mediated endocytosis (GO:0006898)|signal transduction (GO:0007165)	clathrin coat of coated pit (GO:0030132)|clathrin coat of trans-Golgi network vesicle (GO:0030130)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|coated vesicle (GO:0030135)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|spindle (GO:0005819)|trans-Golgi network (GO:0005802)	signal transducer activity (GO:0004871)|structural molecule activity (GO:0005198)			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	Colorectal(54;0.0993)					AGAGAATTCTCATTGCACACC	0.552			T	?	ALCL																																			Dom	yes		22	22q11.21	8218	"""clathrin, heavy polypeptide-like 1"""		L	0													141.0	140.0	140.0					22																	19207507		1980	4152	6132	SO:0001583	missense	8218				CCDS46662.1, CCDS54497.1, CCDS46662.2, CCDS54497.2	22q11.2	2008-06-10	2006-09-29		ENSG00000070371	ENSG00000070371			2093	protein-coding gene	gene with protein product		601273	"""clathrin, heavy polypeptide-like 1"""	CLTCL		8844170, 15133132	Standard	NM_007098		Approved	CLTD, CLH22, CHC22	uc021wle.1	P53675	OTTHUMG00000150109	ENST00000263200.10:c.2806G>C	22.37:g.19207507C>G	ENSP00000445677:p.Glu936Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	B7Z7U5|Q14017|Q15808|Q15809	Missense_Mutation	SNP	pfam_Clathrin_H-chain/VPS_repeat,pfam_Clathrin_H-chain_propeller_rpt,pfam_Clathrin_H-chain_linker_core,superfamily_Clathrin_H-chain_propeller_N,superfamily_ARM-type_fold,smart_Clathrin_H-chain/VPS_repeat,pirsf_Clathrin_heavy_chain	p.E936Q	ENST00000263200.10	37	c.2806	CCDS46662.1	22	.	.	.	.	.	.	.	.	.	.	C	18.12	3.553771	0.65425	.	.	ENSG00000070371	ENST00000353891;ENST00000263200;ENST00000427926	T;T;T	0.26373	1.74;1.74;1.74	4.03	4.03	0.46877	Tetratricopeptide-like helical (1);Armadillo-type fold (1);	0.000000	0.64402	D	0.000001	T	0.38108	0.1028	M	0.80028	2.48	0.80722	D	1	B;B	0.22909	0.055;0.077	B;B	0.32149	0.063;0.141	T	0.47275	-0.9130	10	0.66056	D	0.02	-17.0209	16.3444	0.83118	0.0:1.0:0.0:0.0	.	936;936	P53675-2;P53675	.;CLH2_HUMAN	Q	936	ENSP00000439662:E936Q;ENSP00000445677:E936Q;ENSP00000441158:E936Q	ENSP00000445677:E936Q	E	-	1	0	CLTCL1	17587507	1.000000	0.71417	1.000000	0.80357	0.933000	0.57130	5.314000	0.65804	2.084000	0.62774	0.467000	0.42956	GAG	CLTCL1	-	pfam_Clathrin_H-chain/VPS_repeat,superfamily_ARM-type_fold,smart_Clathrin_H-chain/VPS_repeat,pirsf_Clathrin_heavy_chain		0.552	CLTCL1-001	KNOWN	non_canonical_genome_sequence_error|basic|appris_principal|CCDS	protein_coding	CLTCL1	HGNC	protein_coding	OTTHUMT00000316397.5	C	NM_007098		19207507	-1	no_errors	ENST00000263200	ensembl	human	known	70_37	missense	SNP	1.000	G
CMYA5	202333	genome.wustl.edu	37	5	79030249	79030249	+	Missense_Mutation	SNP	T	T	G			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr5:79030249T>G	ENST00000446378.2	+	2	5692	c.5661T>G	c.(5659-5661)atT>atG	p.I1887M		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	1887					negative regulation of calcineurin-NFAT signaling cascade (GO:0070885)|negative regulation of protein phosphatase type 2B activity (GO:0032513)|regulation of skeletal muscle adaptation (GO:0014733)	costamere (GO:0043034)				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		AATTCTTTATTTCTCCAAAGG	0.393																																																	0													53.0	53.0	53.0					5																	79030249		1845	4092	5937	SO:0001583	missense	202333			AW755254, AL831986	CCDS47238.1	5q14.1	2013-02-11			ENSG00000164309	ENSG00000164309		"""Tripartite motif containing / Tripartite motif containing"", ""A-kinase anchor proteins"", ""Fibronectin type III domain containing"""	14305	protein-coding gene	gene with protein product	"""genethonin-3"", ""tripartite motif-containing 76"""	612193	"""chromosome 5 open reading frame 10"""	C5orf10		14688250	Standard	NM_153610		Approved	myospryn, SPRYD2, DKFZp451G223, TRIM76	uc003kgc.3	Q8N3K9	OTTHUMG00000162548	ENST00000446378.2:c.5661T>G	5.37:g.79030249T>G	ENSP00000394770:p.Ile1887Met	Somatic		WXS	Illumina HiSeq	Phase_IV	A0PJB7|Q05CT4|Q2NKX1|Q2T9G9|Q69YQ8|Q69YQ9|Q6P517|Q6P5U3|Q7Z4I1|Q86T34|Q86T49|Q8N3S4|Q8N3S7|Q8NAG8|Q9UK88	Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3	p.I1887M	ENST00000446378.2	37	c.5661	CCDS47238.1	5	.	.	.	.	.	.	.	.	.	.	T	21.3	4.123662	0.77436	.	.	ENSG00000164309	ENST00000446378	T	0.06608	3.28	6.06	3.72	0.42706	.	0.267654	0.27031	N	0.021266	T	0.12178	0.0296	L	0.42245	1.32	0.09310	N	1	D	0.67145	0.996	P	0.59703	0.862	T	0.07986	-1.0744	10	0.45353	T	0.12	.	7.4098	0.27011	0.0:0.1678:0.0:0.8322	.	1887	Q8N3K9	CMYA5_HUMAN	M	1887	ENSP00000394770:I1887M	ENSP00000394770:I1887M	I	+	3	3	CMYA5	79066005	0.063000	0.20901	0.001000	0.08648	0.757000	0.42996	2.254000	0.43214	0.553000	0.29044	0.528000	0.53228	ATT	CMYA5	-	NULL		0.393	CMYA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CMYA5	HGNC	protein_coding	OTTHUMT00000369497.1	T	NM_153610		79030249	+1	no_errors	ENST00000446378	ensembl	human	known	70_37	missense	SNP	0.002	G
CMYA5	202333	genome.wustl.edu	37	5	79032670	79032670	+	Silent	SNP	G	G	A			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr5:79032670G>A	ENST00000446378.2	+	2	8113	c.8082G>A	c.(8080-8082)gtG>gtA	p.V2694V		NM_153610.3	NP_705838.3	Q8N3K9	CMYA5_HUMAN	cardiomyopathy associated 5	2694					negative regulation of calcineurin-NFAT signaling cascade (GO:0070885)|negative regulation of protein phosphatase type 2B activity (GO:0032513)|regulation of skeletal muscle adaptation (GO:0014733)	costamere (GO:0043034)				NS(2)|breast(4)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(37)|lung(34)|ovary(6)|pancreas(2)|prostate(5)|skin(5)|stomach(11)|upper_aerodigestive_tract(3)|urinary_tract(1)	128		Lung NSC(167;0.00296)|all_lung(232;0.00327)|Ovarian(174;0.0262)		OV - Ovarian serous cystadenocarcinoma(54;9.85e-46)|Epithelial(54;3.38e-40)|all cancers(79;3.43e-35)		AAGAAACTGTGAAACAAGGAT	0.413																																																	0													46.0	45.0	45.0					5																	79032670		1830	4094	5924	SO:0001819	synonymous_variant	202333			AW755254, AL831986	CCDS47238.1	5q14.1	2013-02-11			ENSG00000164309	ENSG00000164309		"""Tripartite motif containing / Tripartite motif containing"", ""A-kinase anchor proteins"", ""Fibronectin type III domain containing"""	14305	protein-coding gene	gene with protein product	"""genethonin-3"", ""tripartite motif-containing 76"""	612193	"""chromosome 5 open reading frame 10"""	C5orf10		14688250	Standard	NM_153610		Approved	myospryn, SPRYD2, DKFZp451G223, TRIM76	uc003kgc.3	Q8N3K9	OTTHUMG00000162548	ENST00000446378.2:c.8082G>A	5.37:g.79032670G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	A0PJB7|Q05CT4|Q2NKX1|Q2T9G9|Q69YQ8|Q69YQ9|Q6P517|Q6P5U3|Q7Z4I1|Q86T34|Q86T49|Q8N3S4|Q8N3S7|Q8NAG8|Q9UK88	Silent	SNP	pfam_Fibronectin_type3,pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_B30.2/SPRY,pfscan_Fibronectin_type3	p.V2694	ENST00000446378.2	37	c.8082	CCDS47238.1	5																																																																																			CMYA5	-	NULL		0.413	CMYA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CMYA5	HGNC	protein_coding	OTTHUMT00000369497.1	G	NM_153610		79032670	+1	no_errors	ENST00000446378	ensembl	human	known	70_37	silent	SNP	0.020	A
CNGA2	1260	genome.wustl.edu	37	X	150912869	150912869	+	Missense_Mutation	SNP	C	C	T	rs149002674		TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chrX:150912869C>T	ENST00000329903.4	+	6	1927	c.1894C>T	c.(1894-1896)Cgc>Tgc	p.R632C		NM_005140.1	NP_005131.1	Q16280	CNGA2_HUMAN	cyclic nucleotide gated channel alpha 2	632					phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|sensory perception of smell (GO:0007608)	integral component of plasma membrane (GO:0005887)	cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|intracellular cGMP activated cation channel activity (GO:0005223)|voltage-gated potassium channel activity (GO:0005249)	p.R632C(1)		breast(4)|endometrium(4)|large_intestine(5)|lung(34)|prostate(2)	49	Acute lymphoblastic leukemia(192;6.56e-05)					GCTCAAGCAGCGCATCACAGT	0.547																																																	1	Substitution - Missense(1)	large_intestine(1)						C	CYS/ARG	0,3835		0,0,1632,571	108.0	91.0	97.0		1894	3.5	1.0	X	dbSNP_134	97	2,6726		0,2,2426,1872	no	missense	CNGA2	NM_005140.1	180	0,2,4058,2443	TT,TC,CC,C		0.0297,0.0,0.0189	probably-damaging	632/665	150912869	2,10561	2203	4300	6503	SO:0001583	missense	1260			S76067	CCDS14701.1	Xq27	2011-07-05			ENSG00000183862	ENSG00000183862		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	2149	protein-coding gene	gene with protein product		300338		CNCA1, CNCA		7532814, 16382102	Standard	NM_005140		Approved	CNG2, OCNC1, OCNCa, OCNCALPHA, OCNCalpha, FLJ46312	uc004fey.1	Q16280	OTTHUMG00000024173	ENST00000329903.4:c.1894C>T	X.37:g.150912869C>T	ENSP00000328478:p.Arg632Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	A0AVD0	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom	p.R632C	ENST00000329903.4	37	c.1894	CCDS14701.1	X	.	.	.	.	.	.	.	.	.	.	C	12.43	1.936422	0.34189	0.0	2.97E-4	ENSG00000183862	ENST00000329903	D	0.98455	-4.94	5.47	3.54	0.40534	.	0.000000	0.85682	D	0.000000	D	0.98738	0.9576	M	0.86028	2.79	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.99215	1.0877	10	0.87932	D	0	.	10.0454	0.42184	0.5048:0.4952:0.0:0.0	.	632	Q16280	CNGA2_HUMAN	C	632	ENSP00000328478:R632C	ENSP00000328478:R632C	R	+	1	0	CNGA2	150663525	1.000000	0.71417	0.995000	0.50966	0.497000	0.33675	1.622000	0.36997	1.018000	0.39521	0.600000	0.82982	CGC	CNGA2	-	NULL		0.547	CNGA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNGA2	HGNC	protein_coding	OTTHUMT00000060888.1	C	NM_005140		150912869	+1	no_errors	ENST00000329903	ensembl	human	known	70_37	missense	SNP	1.000	T
CNGA3	1261	genome.wustl.edu	37	2	98986443	98986443	+	Missense_Mutation	SNP	C	C	T			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr2:98986443C>T	ENST00000272602.2	+	1	44	c.5C>T	c.(4-6)gCc>gTc	p.A2V	CNGA3_ENST00000393504.1_Missense_Mutation_p.A2V|CNGA3_ENST00000436404.2_Missense_Mutation_p.A2V			Q16281	CNGA3_HUMAN	cyclic nucleotide gated channel alpha 3	2					cation transport (GO:0006812)|phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|response to cAMP (GO:0051591)|response to corticosteroid (GO:0031960)|response to magnesium ion (GO:0032026)|retinal cone cell development (GO:0046549)|signal transduction (GO:0007165)|transport (GO:0006810)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|perikaryon (GO:0043204)|photoreceptor outer segment membrane (GO:0042622)|transmembrane transporter complex (GO:1902495)	cGMP binding (GO:0030553)|intracellular cAMP activated cation channel activity (GO:0005222)|intracellular cGMP activated cation channel activity (GO:0005223)|ligand-gated ion channel activity (GO:0015276)|voltage-gated potassium channel activity (GO:0005249)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(17)|ovary(5)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)	49						GAGAAGATGGCCAAGATCAAC	0.498																																																	0													151.0	121.0	131.0					2																	98986443		2203	4300	6503	SO:0001583	missense	1261			S76069	CCDS2034.1, CCDS42719.1	2q11.2	2013-01-08			ENSG00000144191	ENSG00000144191		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	2150	protein-coding gene	gene with protein product		600053		CNCG3, ACHM2		7532814, 9517456, 16382102	Standard	NM_001298		Approved	CCNC1, CCNCa, CNG3	uc002syt.3	Q16281	OTTHUMG00000130561	ENST00000272602.2:c.5C>T	2.37:g.98986443C>T	ENSP00000272602:p.Ala2Val	Somatic		WXS	Illumina HiSeq	Phase_IV	E9PF93|Q4VAP7|Q53RD2|Q6ZNA7|Q9UP64	Missense_Mutation	SNP	pfam_cNMP-bd_dom,pfam_Ion_trans_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom	p.A2V	ENST00000272602.2	37	c.5	CCDS2034.1	2	.	.	.	.	.	.	.	.	.	.	C	21.7	4.188391	0.78789	.	.	ENSG00000144191	ENST00000393504;ENST00000436404;ENST00000272602	D;D;D	0.98585	-5.01;-4.74;-5.01	4.1	4.1	0.47936	.	.	.	.	.	D	0.97306	0.9119	L	0.54323	1.7	0.42735	D	0.993723	P;B	0.51057	0.941;0.278	P;B	0.49597	0.616;0.051	D	0.97338	0.9955	9	0.72032	D	0.01	.	12.0164	0.53317	0.0:1.0:0.0:0.0	.	2;2	Q4VAP7;Q16281	.;CNGA3_HUMAN	V	2	ENSP00000377140:A2V;ENSP00000410070:A2V;ENSP00000272602:A2V	ENSP00000272602:A2V	A	+	2	0	CNGA3	98352875	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	3.966000	0.56795	2.291000	0.77112	0.655000	0.94253	GCC	CNGA3	-	NULL		0.498	CNGA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CNGA3	HGNC	protein_coding	OTTHUMT00000252986.1	C	NM_001298		98986443	+1	no_errors	ENST00000272602	ensembl	human	known	70_37	missense	SNP	1.000	T
CNGA4	1262	genome.wustl.edu	37	11	6261555	6261555	+	Silent	SNP	T	T	C			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr11:6261555T>C	ENST00000379936.2	+	4	646	c.531T>C	c.(529-531)ttT>ttC	p.F177F	CNGA4_ENST00000533426.1_Intron	NM_001037329.3	NP_001032406.1	Q8IV77	CNGA4_HUMAN	cyclic nucleotide gated channel alpha 4	177					phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|sensory perception of smell (GO:0007608)	integral component of plasma membrane (GO:0005887)	cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|intracellular cAMP activated cation channel activity (GO:0005222)|intracellular cGMP activated cation channel activity (GO:0005223)|voltage-gated potassium channel activity (GO:0005249)			endometrium(2)|kidney(1)|large_intestine(9)|lung(24)|prostate(3)|skin(1)	40		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;2.04e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TTTACATTTTTGTCGTCATCC	0.597																																																	0													68.0	67.0	67.0					11																	6261555		2201	4296	6497	SO:0001819	synonymous_variant	1262			AK122736	CCDS31408.1	11p15.4	2011-07-05		2002-01-18		ENSG00000132259		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	2152	protein-coding gene	gene with protein product		609472	"""cyclic nucleotide gated channel beta 2"""	CNCA2, CNGB2		11764791, 16382102	Standard	NM_001037329		Approved	OCNC2, OCNCb, CNG5	uc001mco.3	Q8IV77		ENST00000379936.2:c.531T>C	11.37:g.6261555T>C		Somatic		WXS	Illumina HiSeq	Phase_IV		Silent	SNP	pfam_cNMP-bd_dom,pfam_Ion_trans_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom	p.F177	ENST00000379936.2	37	c.531	CCDS31408.1	11																																																																																			CNGA4	-	pfam_Ion_trans_dom		0.597	CNGA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNGA4	HGNC	protein_coding	OTTHUMT00000383765.2	T	NM_001037329		6261555	+1	no_errors	ENST00000379936	ensembl	human	known	70_37	silent	SNP	1.000	C
CNOT2	4848	genome.wustl.edu	37	12	70729314	70729314	+	Missense_Mutation	SNP	T	T	G			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr12:70729314T>G	ENST00000418359.3	+	9	1197	c.746T>G	c.(745-747)aTa>aGa	p.I249R	CNOT2_ENST00000229195.3_Missense_Mutation_p.I249R|CNOT2_ENST00000551483.1_De_novo_Start_InFrame	NM_001199302.1	NP_001186231.1	Q9NZN8	CNOT2_HUMAN	CCR4-NOT transcription complex, subunit 2	249					gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of cytoplasmic mRNA processing body assembly (GO:0010606)|regulation of stem cell maintenance (GO:2000036)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|transcription from RNA polymerase II promoter (GO:0006366)|trophectodermal cell differentiation (GO:0001829)	CCR4-NOT complex (GO:0030014)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	RNA polymerase II transcription cofactor activity (GO:0001104)|RNA polymerase II transcription corepressor binding (GO:0001226)			cervix(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(10)|pancreas(2)|urinary_tract(1)	20	Renal(347;0.236)		GBM - Glioblastoma multiforme(1;4.77e-09)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00243)|STAD - Stomach adenocarcinoma(21;0.0118)			ACTCCATTAATAAACCCCTTG	0.413																																																	0													130.0	120.0	124.0					12																	70729314		2203	4300	6503	SO:0001583	missense	4848			AF180473	CCDS31857.1	12q15	2008-05-14				ENSG00000111596			7878	protein-coding gene	gene with protein product		604909		NOT2		10637334	Standard	NM_014515		Approved	CDC36, NOT2H	uc001svv.3	Q9NZN8		ENST00000418359.3:c.746T>G	12.37:g.70729314T>G	ENSP00000412091:p.Ile249Arg	Somatic		WXS	Illumina HiSeq	Phase_IV	Q9H3E0|Q9NSX5|Q9NWR6|Q9P028	Missense_Mutation	SNP	pfam_NOT	p.I249R	ENST00000418359.3	37	c.746	CCDS31857.1	12	.	.	.	.	.	.	.	.	.	.	T	12.84	2.057483	0.36277	.	.	ENSG00000111596	ENST00000552231;ENST00000229195;ENST00000418359;ENST00000550160;ENST00000552915;ENST00000552483;ENST00000548159;ENST00000551043;ENST00000550155	T;T;T;T;T;T;T;T;T	0.72167	-0.63;-0.63;-0.63;-0.63;-0.63;-0.63;-0.63;-0.63;-0.63	5.37	5.37	0.77165	.	0.085614	0.85682	D	0.000000	T	0.57140	0.2033	N	0.22421	0.69	0.58432	D	0.999999	B	0.19445	0.036	B	0.15484	0.013	T	0.52756	-0.8533	10	0.22109	T	0.4	-10.832	15.6769	0.77336	0.0:0.0:0.0:1.0	.	249	Q9NZN8	CNOT2_HUMAN	R	249;249;249;112;188;103;240;249;59	ENSP00000450318:I249R;ENSP00000229195:I249R;ENSP00000412091:I249R;ENSP00000448490:I112R;ENSP00000447497:I188R;ENSP00000450077:I103R;ENSP00000449659:I240R;ENSP00000449260:I249R;ENSP00000448499:I59R	ENSP00000229195:I249R	I	+	2	0	CNOT2	69015581	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.256000	0.51492	2.157000	0.67596	0.528000	0.53228	ATA	CNOT2	-	NULL		0.413	CNOT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNOT2	HGNC	protein_coding	OTTHUMT00000404260.1	T			70729314	+1	no_errors	ENST00000229195	ensembl	human	known	70_37	missense	SNP	1.000	G
CNOT3	4849	genome.wustl.edu	37	19	54646905	54646905	+	Missense_Mutation	SNP	G	G	C			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr19:54646905G>C	ENST00000406403.1	+	2	1679	c.76G>C	c.(76-78)Gaa>Caa	p.E26Q	CNOT3_ENST00000358389.3_5'UTR|CNOT3_ENST00000221232.5_Missense_Mutation_p.E26Q			O75175	CNOT3_HUMAN	CCR4-NOT transcription complex, subunit 3	26					gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|regulation of stem cell maintenance (GO:2000036)|regulation of transcription, DNA-templated (GO:0006355)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|transcription, DNA-templated (GO:0006351)|trophectodermal cell differentiation (GO:0001829)	CCR4-NOT complex (GO:0030014)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|nucleus (GO:0005634)				endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(7)|urinary_tract(3)	28	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					GGAGCAGTTTGAAGATATTTG	0.562																																																	0													152.0	152.0	152.0					19																	54646905		2203	4300	6503	SO:0001583	missense	4849			AF180474	CCDS12880.1	19q13.4	2011-02-14			ENSG00000088038	ENSG00000088038			7879	protein-coding gene	gene with protein product	"""NOT3 (negative regulator of transcription 3, yeast) homolog"""	604910		NOT3		10637334, 9734811	Standard	NM_014516		Approved	NOT3H, KIAA0691, LENG2	uc002qdj.2	O75175	OTTHUMG00000066468	ENST00000406403.1:c.76G>C	19.37:g.54646905G>C	ENSP00000383954:p.Glu26Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	Q9NZN7|Q9UF76	Missense_Mutation	SNP	pfam_Not_N,pfam_NOT,pirsf_CCR4-NOT_su3/5	p.E26Q	ENST00000406403.1	37	c.76	CCDS12880.1	19	.	.	.	.	.	.	.	.	.	.	G	29.8	5.035987	0.93630	.	.	ENSG00000088038	ENST00000221232;ENST00000406403	T;T	0.55588	0.51;0.51	5.04	5.04	0.67666	Not CCR4-Not complex component, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.66733	0.2819	L	0.43152	1.355	0.80722	D	1	D;D	0.76494	0.999;0.997	D;D	0.83275	0.996;0.995	T	0.69273	-0.5188	10	0.72032	D	0.01	-18.3582	17.5375	0.87837	0.0:0.0:1.0:0.0	.	26;26	B7Z6J7;O75175	.;CNOT3_HUMAN	Q	26	ENSP00000221232:E26Q;ENSP00000383954:E26Q	ENSP00000221232:E26Q	E	+	1	0	CNOT3	59338717	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.786000	0.91826	2.512000	0.84698	0.655000	0.94253	GAA	CNOT3	-	pfam_Not_N,pirsf_CCR4-NOT_su3/5		0.562	CNOT3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	CNOT3	HGNC	protein_coding	OTTHUMT00000142130.3	G	NM_014516		54646905	+1	no_errors	ENST00000221232	ensembl	human	known	70_37	missense	SNP	1.000	C
CNTN6	27255	genome.wustl.edu	37	3	1424984	1424984	+	Missense_Mutation	SNP	A	A	C	rs368055236		TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr3:1424984A>C	ENST00000446702.2	+	19	3036	c.2409A>C	c.(2407-2409)caA>caC	p.Q803H	CNTN6_ENST00000350110.2_Missense_Mutation_p.Q803H|CNTN6_ENST00000539053.1_Missense_Mutation_p.Q731H			Q9UQ52	CNTN6_HUMAN	contactin 6	803					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|central nervous system development (GO:0007417)|Notch signaling pathway (GO:0007219)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				breast(6)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(25)|lung(34)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		all_cancers(2;0.000164)|all_epithelial(2;0.107)		Epithelial(13;0.000233)|all cancers(10;0.0013)|OV - Ovarian serous cystadenocarcinoma(96;0.0139)		TAGAACCTCAACTGGCCCCAA	0.433													A|||	1	0.000199681	0.0008	0.0	5008	,	,		20658	0.0		0.0	False		,,,				2504	0.0																0								A	HIS/GLN	1,4405	2.1+/-5.4	0,1,2202	185.0	192.0	190.0		2409	-7.8	0.2	3		190	0,8600		0,0,4300	no	missense	CNTN6	NM_014461.2	24	0,1,6502	CC,CA,AA		0.0,0.0227,0.0077	benign	803/1029	1424984	1,13005	2203	4300	6503	SO:0001583	missense	27255			AB003592	CCDS2557.1	3p26-p25	2013-02-11			ENSG00000134115	ENSG00000134115		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	2176	protein-coding gene	gene with protein product	"""neural adhesion molecule"""	607220				9486763	Standard	NM_014461		Approved	NB-3	uc003bpa.3	Q9UQ52	OTTHUMG00000119030	ENST00000446702.2:c.2409A>C	3.37:g.1424984A>C	ENSP00000407822:p.Gln803His	Somatic		WXS	Illumina HiSeq	Phase_IV	Q2KHM2	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.Q803H	ENST00000446702.2	37	c.2409	CCDS2557.1	3	.	.	.	.	.	.	.	.	.	.	A	15.91	2.972299	0.53614	2.27E-4	0.0	ENSG00000134115	ENST00000446702;ENST00000539053;ENST00000350110	T;T;T	0.61510	0.1;0.13;0.1	5.82	-7.81	0.01210	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.359193	0.23789	N	0.044554	T	0.54565	0.1866	M	0.75085	2.285	0.28593	N	0.909531	P	0.37955	0.612	B	0.43575	0.424	T	0.57751	-0.7757	10	0.51188	T	0.08	.	12.1574	0.54085	0.1619:0.0847:0.7534:0.0	.	803	Q9UQ52	CNTN6_HUMAN	H	803;731;803	ENSP00000407822:Q803H;ENSP00000442791:Q731H;ENSP00000341882:Q803H	ENSP00000341882:Q803H	Q	+	3	2	CNTN6	1399984	0.000000	0.05858	0.173000	0.22940	0.872000	0.50106	-1.095000	0.03356	-1.479000	0.01867	-0.342000	0.07992	CAA	CNTN6	-	superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.433	CNTN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNTN6	HGNC	protein_coding	OTTHUMT00000239235.2	A	NM_014461		1424984	+1	no_errors	ENST00000350110	ensembl	human	known	70_37	missense	SNP	0.859	C
CNTN4	152330	genome.wustl.edu	37	3	3072659	3072659	+	Splice_Site	SNP	G	G	T			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr3:3072659G>T	ENST00000397461.1	+	15	2167	c.1783G>T	c.(1783-1785)Ggt>Tgt	p.G595C	CNTN4_ENST00000427331.1_Splice_Site_p.G595C|CNTN4_ENST00000397459.2_Splice_Site_p.G267C|CNTN4_ENST00000448906.2_Splice_Site_p.G267C|CNTN4_ENST00000418658.1_Splice_Site_p.G595C|CNTN4_ENST00000358480.3_Splice_Site_p.G376C	NM_001206955.1	NP_001193884.1	Q8IWV2	CNTN4_HUMAN	contactin 4	595					axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|axonogenesis (GO:0007409)|brain development (GO:0007420)|negative regulation of neuron differentiation (GO:0045665)|nervous system development (GO:0007399)|neuron cell-cell adhesion (GO:0007158)|neuron projection development (GO:0031175)|regulation of synaptic plasticity (GO:0048167)	anchored component of membrane (GO:0031225)|axon (GO:0030424)|extracellular region (GO:0005576)|plasma membrane (GO:0005886)				NS(1)|breast(4)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(19)|ovary(2)|pancreas(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Ovarian(110;0.156)		Epithelial(13;0.000695)|all cancers(10;0.0047)|OV - Ovarian serous cystadenocarcinoma(96;0.01)		GATTGTAAGAGGTACTGGATT	0.408																																																	0													177.0	167.0	170.0					3																	3072659		2203	4300	6503	SO:0001630	splice_region_variant	152330			AW665944	CCDS2558.1, CCDS43041.1	3p26.3	2013-02-11			ENSG00000144619	ENSG00000144619		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2174	protein-coding gene	gene with protein product		607280				8586965, 12202991	Standard	NM_175607		Approved	BIG-2	uc003bpc.3	Q8IWV2	OTTHUMG00000119031	ENST00000397461.1:c.1783+1G>T	3.37:g.3072659G>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B2RAX3|Q8IX14|Q8TC35	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Fibronectin_type3,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.G595C	ENST00000397461.1	37	c.1783	CCDS43041.1	3	.	.	.	.	.	.	.	.	.	.	G	22.5	4.293549	0.80914	.	.	ENSG00000144619	ENST00000418658;ENST00000397461;ENST00000427331;ENST00000358480;ENST00000397459;ENST00000448906	T;T;T;T;T;T	0.56776	0.44;0.44;0.44;0.44;0.44;0.44	5.13	5.13	0.70059	Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.81697	0.4877	H	0.95151	3.63	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;0.998;1.0	D	0.87407	0.2373	10	0.87932	D	0	.	18.9723	0.92719	0.0:0.0:1.0:0.0	.	594;595;595	Q8IWV2-3;B3KTK4;Q8IWV2	.;.;CNTN4_HUMAN	C	595;595;595;376;267;267	ENSP00000396010:G595C;ENSP00000380602:G595C;ENSP00000413642:G595C;ENSP00000351267:G376C;ENSP00000380600:G267C;ENSP00000392077:G267C	ENSP00000351267:G376C	G	+	1	0	CNTN4	3047659	1.000000	0.71417	1.000000	0.80357	0.805000	0.45488	9.191000	0.94940	2.546000	0.85860	0.655000	0.94253	GGT	CNTN4	-	NULL		0.408	CNTN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNTN4	HGNC	protein_coding	OTTHUMT00000239236.2	G		Missense_Mutation	3072659	+1	no_errors	ENST00000397461	ensembl	human	known	70_37	missense	SNP	1.000	T
CNTNAP5	129684	genome.wustl.edu	37	2	125281944	125281944	+	Silent	SNP	G	G	A			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr2:125281944G>A	ENST00000431078.1	+	9	1753	c.1389G>A	c.(1387-1389)acG>acA	p.T463T		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	463	Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)		p.T463T(2)		NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		ACCGCATCACGCTCACTCTGG	0.493																																																	2	Substitution - coding silent(2)	lung(2)											72.0	77.0	75.0					2																	125281944		2058	4213	6271	SO:0001819	synonymous_variant	129684			AB077881	CCDS46401.1	2q14.1	2008-02-05			ENSG00000155052	ENSG00000155052			18748	protein-coding gene	gene with protein product		610519					Standard	NM_130773		Approved	caspr5, FLJ31966	uc002tno.3	Q8WYK1	OTTHUMG00000153356	ENST00000431078.1:c.1389G>A	2.37:g.125281944G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q4ZFW2|Q4ZG21|Q53R09|Q53RX1|Q53SG3|Q584P3|Q96MS7	Silent	SNP	pfam_Laminin_G,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,superfamily_ConA-like_lec_gl_sf,superfamily_Fibrinogen_a/b/g_C,smart_Coagulation_fac_5/8-C_type_dom,smart_Laminin_G,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Laminin_G	p.T463	ENST00000431078.1	37	c.1389	CCDS46401.1	2																																																																																			CNTNAP5	-	pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G		0.493	CNTNAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNTNAP5	HGNC	protein_coding	OTTHUMT00000330864.3	G			125281944	+1	no_errors	ENST00000431078	ensembl	human	known	70_37	silent	SNP	0.781	A
COBL	23242	genome.wustl.edu	37	7	51258745	51258745	+	Missense_Mutation	SNP	G	G	A	rs549839734		TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr7:51258745G>A	ENST00000265136.7	-	4	652	c.487C>T	c.(487-489)Cgg>Tgg	p.R163W	COBL_ENST00000395540.2_Missense_Mutation_p.R163W|COBL_ENST00000395542.2_Missense_Mutation_p.R163W|COBL_ENST00000441453.1_Missense_Mutation_p.R163W	NM_015198.3	NP_056013.2	O75128	COBL_HUMAN	cordon-bleu WH2 repeat protein	163					actin filament network formation (GO:0051639)|actin filament polymerization (GO:0030041)|collateral sprouting in absence of injury (GO:0048669)|digestive tract development (GO:0048565)|embryonic axis specification (GO:0000578)|floor plate development (GO:0033504)|liver development (GO:0001889)|neural tube closure (GO:0001843)|notochord development (GO:0030903)|positive regulation of dendrite development (GO:1900006)|somite specification (GO:0001757)	actin filament (GO:0005884)|axon (GO:0030424)|axonal growth cone (GO:0044295)|cell cortex (GO:0005938)|dendrite (GO:0030425)|dendritic growth cone (GO:0044294)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	actin monomer binding (GO:0003785)			NS(2)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(26)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	Glioma(55;0.08)					TTTTGTGTCCGCAGGTAATTC	0.473																																					NSCLC(189;2119 2138 12223 30818 34679)												0													49.0	46.0	47.0					7																	51258745		2203	4300	6503	SO:0001583	missense	23242			AB014533	CCDS34637.1, CCDS75601.1, CCDS75602.1	7p12.2-p12.1	2012-12-07	2012-12-07		ENSG00000106078	ENSG00000106078			22199	protein-coding gene	gene with protein product		610317	"""cordon-bleu homolog (mouse)"""				Standard	NM_015198		Approved	KIAA0633	uc003tpr.4	O75128	OTTHUMG00000155999	ENST00000265136.7:c.487C>T	7.37:g.51258745G>A	ENSP00000265136:p.Arg163Trp	Somatic		WXS	Illumina HiSeq	Phase_IV	A4D257|A7E2B0|B7ZLW9|B9EGF8|Q2T9J3|Q504Y4|Q86XA7|Q8N304|Q8TCM1	Missense_Mutation	SNP	pfam_Cordon-bleu_domain,pfam_WH2_dom,smart_WH2_dom,pfscan_WH2_dom	p.R163W	ENST00000265136.7	37	c.487	CCDS34637.1	7	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.53|17.53	3.413113|3.413113	0.62511|0.62511	.|.	.|.	ENSG00000106078|ENSG00000106078	ENST00000452534|ENST00000265136;ENST00000445054;ENST00000395542;ENST00000395540;ENST00000441453;ENST00000449281	.|T;T;T;T;T	.|0.43294	.|0.95;1.96;0.95;0.95;0.95	5.78|5.78	3.88|3.88	0.44766|0.44766	.|Cordon-bleu domain (1);	.|0.000000	.|0.38111	.|N	.|0.001804	T|T	0.61035|0.61035	0.2315|0.2315	M|M	0.74258|0.74258	2.255|2.255	0.09310|0.09310	N|N	1|1	.|D;D;D;D;D	.|0.89917	.|1.0;1.0;1.0;1.0;1.0	.|D;D;D;D;D	.|0.91635	.|0.994;0.971;0.994;0.998;0.999	T|T	0.54200|0.54200	-0.8329|-0.8329	5|10	.|0.87932	.|D	.|0	.|.	9.3116|9.3116	0.37908|0.37908	0.0:0.1241:0.4308:0.4451|0.0:0.1241:0.4308:0.4451	.|.	.|163;163;163;163;163	.|O75128-3;O75128-5;O75128-7;O75128;O75128-2	.|.;.;.;COBL_HUMAN;.	V|W	81|163;30;163;163;163;147	.|ENSP00000265136:R163W;ENSP00000401204:R30W;ENSP00000378912:R163W;ENSP00000378910:R163W;ENSP00000399500:R163W	.|ENSP00000265136:R163W	A|R	-|-	2|1	0|2	COBL|COBL	51226239|51226239	0.037000|0.037000	0.19845|0.19845	0.936000|0.936000	0.37596|0.37596	0.991000|0.991000	0.79684|0.79684	0.621000|0.621000	0.24418|0.24418	0.703000|0.703000	0.31848|0.31848	0.557000|0.557000	0.71058|0.71058	GCG|CGG	COBL	-	pfam_Cordon-bleu_domain		0.473	COBL-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	COBL	HGNC	protein_coding	OTTHUMT00000342682.1	G	NM_015198		51258745	-1	no_errors	ENST00000395542	ensembl	human	known	70_37	missense	SNP	0.018	A
COL16A1	1307	genome.wustl.edu	37	1	32118157	32118158	+	3'UTR	INS	-	-	A	rs369128729|rs368642761		TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr1:32118157_32118158insA	ENST00000373672.3	-	0	5425_5426				COL16A1_ENST00000271069.6_3'UTR|COL16A1_ENST00000461217.1_5'Flank|RP11-73M7.6_ENST00000609338.1_RNA|RP11-73M7.6_ENST00000589462.1_RNA|RP11-73M7.6_ENST00000609625.1_RNA|RP11-73M7.6_ENST00000610216.1_RNA|RP11-73M7.6_ENST00000610043.1_RNA|RP11-73M7.6_ENST00000607926.1_RNA|RP11-73M7.6_ENST00000609373.1_RNA|RP11-73M7.6_ENST00000609549.1_RNA|RP11-73M7.6_ENST00000591929.1_RNA|RP11-73M7.6_ENST00000587445.1_RNA|RP11-73M7.6_ENST00000591592.1_RNA|RP11-73M7.6_ENST00000608246.1_RNA|RP11-73M7.6_ENST00000585660.1_RNA|RP11-73M7.6_ENST00000585413.1_RNA|RP11-73M7.6_ENST00000608332.1_RNA|RP11-73M7.6_ENST00000609033.1_RNA|RP11-73M7.6_ENST00000608888.1_RNA|RP11-73M7.6_ENST00000593188.1_RNA	NM_001856.3	NP_001847.3	Q07092	COGA1_HUMAN	collagen, type XVI, alpha 1						cell adhesion (GO:0007155)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|female pregnancy (GO:0007565)|integrin-mediated signaling pathway (GO:0007229)	collagen type XVI trimer (GO:0005597)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	integrin binding (GO:0005178)			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(15)|ovary(8)|prostate(4)	48		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0423)|all_neural(195;0.0837)|Breast(348;0.116)		STAD - Stomach adenocarcinoma(196;0.059)		acaacaacaacaacaaaaaaaa	0.396																																					Colon(143;498 1786 21362 25193 36625)												0																																										SO:0001624	3_prime_UTR_variant	1307			M92642	CCDS41297.1	1p35-p34	2013-01-16			ENSG00000084636	ENSG00000084636		"""Collagens"""	2193	protein-coding gene	gene with protein product		120326				1631157	Standard	NM_001856		Approved		uc001btk.1	Q07092	OTTHUMG00000003883	ENST00000373672.3:c.*95->T	1.37:g.32118159_32118159dupA		Somatic		WXS	Illumina HiSeq	Phase_IV	Q16593|Q59F89|Q71RG9	RNA	INS	-	NULL	ENST00000373672.3	37	NULL	CCDS41297.1	1																																																																																			COL16A1	-	-		0.396	COL16A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL16A1	HGNC	protein_coding	OTTHUMT00000011057.2	-	NM_001856		32118158	-1	no_errors	ENST00000489280	ensembl	human	known	70_37	rna	INS	0.003:0.002	A
COL16A1	1307	genome.wustl.edu	37	1	32118160	32118160	+	3'UTR	DEL	C	C	-	rs1061392|rs377302775	byFrequency	TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr1:32118160delC	ENST00000373672.3	-	0	5423				COL16A1_ENST00000271069.6_3'UTR|COL16A1_ENST00000461217.1_5'Flank|RP11-73M7.6_ENST00000609338.1_RNA|RP11-73M7.6_ENST00000589462.1_RNA|RP11-73M7.6_ENST00000609625.1_RNA|RP11-73M7.6_ENST00000610216.1_RNA|RP11-73M7.6_ENST00000610043.1_RNA|RP11-73M7.6_ENST00000607926.1_RNA|RP11-73M7.6_ENST00000609373.1_RNA|RP11-73M7.6_ENST00000609549.1_RNA|RP11-73M7.6_ENST00000591929.1_RNA|RP11-73M7.6_ENST00000587445.1_RNA|RP11-73M7.6_ENST00000591592.1_RNA|RP11-73M7.6_ENST00000608246.1_RNA|RP11-73M7.6_ENST00000585660.1_RNA|RP11-73M7.6_ENST00000585413.1_RNA|RP11-73M7.6_ENST00000608332.1_RNA|RP11-73M7.6_ENST00000609033.1_RNA|RP11-73M7.6_ENST00000608888.1_RNA|RP11-73M7.6_ENST00000593188.1_RNA	NM_001856.3	NP_001847.3	Q07092	COGA1_HUMAN	collagen, type XVI, alpha 1						cell adhesion (GO:0007155)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|female pregnancy (GO:0007565)|integrin-mediated signaling pathway (GO:0007229)	collagen type XVI trimer (GO:0005597)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	integrin binding (GO:0005178)			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(15)|ovary(8)|prostate(4)	48		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0423)|all_neural(195;0.0837)|Breast(348;0.116)		STAD - Stomach adenocarcinoma(196;0.059)		acaacaacaacaaaaaaaaca	0.388													|||unknown(STR3?)	30	0.00599042	0.0038	0.0101	5008	,	,		17915	0.001		0.005	False		,,,				2504	0.0123				Colon(143;498 1786 21362 25193 36625)												0																																										SO:0001624	3_prime_UTR_variant	1307			M92642	CCDS41297.1	1p35-p34	2013-01-16			ENSG00000084636	ENSG00000084636		"""Collagens"""	2193	protein-coding gene	gene with protein product		120326				1631157	Standard	NM_001856		Approved		uc001btk.1	Q07092	OTTHUMG00000003883	ENST00000373672.3:c.*92G>-	1.37:g.32118160delC		Somatic		WXS	Illumina HiSeq	Phase_IV	Q16593|Q59F89|Q71RG9	RNA	DEL	-	NULL	ENST00000373672.3	37	NULL	CCDS41297.1	1																																																																																			COL16A1	-	-		0.388	COL16A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL16A1	HGNC	protein_coding	OTTHUMT00000011057.2	C	NM_001856		32118160	-1	no_errors	ENST00000489280	ensembl	human	known	70_37	rna	DEL	0.000	-
COL1A2	1278	genome.wustl.edu	37	7	94039761	94039761	+	Silent	SNP	T	T	A			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr7:94039761T>A	ENST00000297268.6	+	21	1590	c.1119T>A	c.(1117-1119)ggT>ggA	p.G373G		NM_000089.3	NP_000080.2	P08123	CO1A2_HUMAN	collagen, type I, alpha 2	373					blood coagulation (GO:0007596)|blood vessel development (GO:0001568)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|leukocyte migration (GO:0050900)|odontogenesis (GO:0042476)|platelet activation (GO:0030168)|protein heterotrimerization (GO:0070208)|regulation of blood pressure (GO:0008217)|Rho protein signal transduction (GO:0007266)|skeletal system development (GO:0001501)|skin morphogenesis (GO:0043589)|transforming growth factor beta receptor signaling pathway (GO:0007179)	collagen type I trimer (GO:0005584)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	extracellular matrix structural constituent (GO:0005201)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)|protein binding, bridging (GO:0030674)		COL1A2/PLAG1(3)	NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	GTCCTCCTGGTCCCAGTGGTG	0.498										HNSCC(75;0.22)																																							0													14.0	15.0	15.0					7																	94039761		2160	4184	6344	SO:0001819	synonymous_variant	1278			Z74616	CCDS34682.1	7q21.3	2014-09-17	2002-02-13		ENSG00000164692	ENSG00000164692		"""Collagens"""	2198	protein-coding gene	gene with protein product	"""alpha 2(I)-collagen"", ""alpha-2 collagen type I"", ""type I procollagen"", ""collagen I, alpha-2 polypeptide"", ""collagen of skin, tendon and bone, alpha-2 chain"""	120160	"""osteogenesis imperfecta type IV"""	OI4		3857213, 2897363	Standard	NM_000089		Approved		uc003ung.1	P08123	OTTHUMG00000148675	ENST00000297268.6:c.1119T>A	7.37:g.94039761T>A		Somatic		WXS	Illumina HiSeq	Phase_IV	P02464|Q13897|Q13997|Q13998|Q14038|Q14057|Q15177|Q15947|Q16480|Q16511|Q7Z5S6|Q9UEB6|Q9UEF9|Q9UM83|Q9UMI1|Q9UML5|Q9UMM6|Q9UPH0	Silent	SNP	pfam_Collagen,pfam_Fib_collagen_C,superfamily_Fibrinogen_a/b/g_C,smart_Fib_collagen_C	p.G373	ENST00000297268.6	37	c.1119	CCDS34682.1	7																																																																																			COL1A2	-	NULL		0.498	COL1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL1A2	HGNC	protein_coding	OTTHUMT00000309045.2	T	NM_000089		94039761	+1	no_errors	ENST00000297268	ensembl	human	known	70_37	silent	SNP	0.928	A
COL24A1	255631	genome.wustl.edu	37	1	86554876	86554876	+	Frame_Shift_Del	DEL	G	G	-			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr1:86554876delG	ENST00000370571.2	-	7	2054	c.1688delC	c.(1687-1689)cctfs	p.P563fs	COL24A1_ENST00000436319.1_Frame_Shift_Del_p.P563fs	NM_152890.5	NP_690850.2	Q17RW2	COOA1_HUMAN	collagen, type XXIV, alpha 1	563	Collagen-like 2.				extracellular matrix organization (GO:0030198)|hematopoietic progenitor cell differentiation (GO:0002244)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)			NS(3)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(9)|liver(1)|lung(56)|ovary(4)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	101				all cancers(265;0.0627)|Epithelial(280;0.0689)		TTGCATACCAGGGGGGCCCAT	0.333																																																	0													78.0	76.0	77.0					1																	86554876		1804	4063	5867	SO:0001589	frameshift_variant	255631			AF410793	CCDS41353.1	1p22.3-p22.2	2013-01-16			ENSG00000171502	ENSG00000171502		"""Collagens"""	20821	protein-coding gene	gene with protein product		610025					Standard	NM_152890		Approved		uc001dlj.3	Q17RW2	OTTHUMG00000010629	ENST00000370571.2:c.1688delC	1.37:g.86554876delG	ENSP00000359603:p.Pro563fs	Somatic		WXS	Illumina HiSeq	Phase_IV	C9J1X6|Q14BD7|Q59EX5|Q5VY50|Q7Z5L5	Frame_Shift_Del	DEL	pfam_Collagen,pfam_Fib_collagen_C,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,smart_Fib_collagen_C	p.P563fs	ENST00000370571.2	37	c.1688	CCDS41353.1	1																																																																																			COL24A1	-	pfam_Collagen		0.333	COL24A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL24A1	HGNC	protein_coding	OTTHUMT00000029335.4	G	NM_152890		86554876	-1	no_errors	ENST00000370571	ensembl	human	known	70_37	frame_shift_del	DEL	1.000	-
COL9A3	1299	genome.wustl.edu	37	20	61468389	61468389	+	Intron	SNP	G	G	A			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr20:61468389G>A	ENST00000343916.3	+	30	1606				COL9A3_ENST00000462700.1_Intron	NM_001853.3	NP_001844.3	Q14050	CO9A3_HUMAN	collagen, type IX, alpha 3						axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|female gonad development (GO:0008585)|male gonad development (GO:0008584)	collagen type IX trimer (GO:0005594)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)			breast(1)|endometrium(3)|large_intestine(1)|lung(18)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	28	Breast(26;5.68e-08)					CAATACTTCTGATGATCCTCT	0.453																																																	0													138.0	156.0	150.0					20																	61468389		2203	4300	6503	SO:0001627	intron_variant	1299			AK075240	CCDS13505.1	20q13.3	2013-01-16			ENSG00000092758	ENSG00000092758		"""Proteoglycans / Extracellular Matrix : Collagen proteoglycans"", ""Collagens"""	2219	protein-coding gene	gene with protein product	"""collagen type IX proteoglycan"""	120270				8586434, 1429648	Standard	NM_001853		Approved	IDD, MED, EDM3, FLJ90759, DJ885L7.4.1	uc002ydm.3	Q14050	OTTHUMG00000032938	ENST00000343916.3:c.1604-46G>A	20.37:g.61468389G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q13681|Q9H4G9|Q9UPE2	RNA	SNP	-	NULL	ENST00000343916.3	37	NULL	CCDS13505.1	20																																																																																			COL9A3	-	-		0.453	COL9A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL9A3	HGNC	protein_coding	OTTHUMT00000080071.2	G	NM_001853		61468389	+1	no_errors	ENST00000466532	ensembl	human	putative	70_37	rna	SNP	0.000	A
COMMD2	51122	genome.wustl.edu	37	3	149459430	149459430	+	Missense_Mutation	SNP	G	G	A			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr3:149459430G>A	ENST00000473414.1	-	5	532	c.478C>T	c.(478-480)Cac>Tac	p.H160Y		NM_016094.3	NP_057178.2	Q86X83	COMD2_HUMAN	COMM domain containing 2	160	COMM. {ECO:0000255|PROSITE- ProRule:PRU00602}.									NS(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)|urinary_tract(1)	9			LUSC - Lung squamous cell carcinoma(72;0.0378)|Lung(72;0.048)			TTGGTGTTGTGATCTCCATTT	0.413																																																	0													247.0	254.0	252.0					3																	149459430		2203	4300	6503	SO:0001583	missense	51122			AY542158	CCDS3145.1	3q25.1	2004-02-20			ENSG00000114744	ENSG00000114744			24993	protein-coding gene	gene with protein product						15799966	Standard	NM_016094		Approved	HSPC042	uc003exj.2	Q86X83	OTTHUMG00000159616	ENST00000473414.1:c.478C>T	3.37:g.149459430G>A	ENSP00000419475:p.His160Tyr	Somatic		WXS	Illumina HiSeq	Phase_IV	Q561V4|Q9H3L5|Q9Y5V1	Missense_Mutation	SNP	pfam_HCaRG	p.H160Y	ENST00000473414.1	37	c.478	CCDS3145.1	3	.	.	.	.	.	.	.	.	.	.	G	11.46	1.646013	0.29246	.	.	ENSG00000114744	ENST00000473414	T	0.09255	3.0	5.76	5.76	0.90799	COMM domain (1);	0.499843	0.23369	N	0.048922	T	0.13586	0.0329	L	0.36672	1.1	0.20403	N	0.999904	B	0.24920	0.114	B	0.27887	0.084	T	0.14727	-1.0462	10	0.56958	D	0.05	-9.6913	19.9813	0.97326	0.0:0.0:1.0:0.0	.	160	Q86X83	COMD2_HUMAN	Y	160	ENSP00000419475:H160Y	ENSP00000419475:H160Y	H	-	1	0	COMMD2	150942120	0.452000	0.25713	0.019000	0.16419	0.036000	0.12997	3.796000	0.55507	2.726000	0.93360	0.655000	0.94253	CAC	COMMD2	-	pfam_HCaRG		0.413	COMMD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COMMD2	HGNC	protein_coding	OTTHUMT00000356515.1	G	NM_016094		149459430	-1	no_errors	ENST00000473414	ensembl	human	known	70_37	missense	SNP	0.168	A
COPE	11316	genome.wustl.edu	37	19	19014100	19014100	+	Missense_Mutation	SNP	G	G	T			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr19:19014100G>T	ENST00000262812.4	-	7	760	c.712C>A	c.(712-714)Ctg>Atg	p.L238M	COPE_ENST00000600932.1_Missense_Mutation_p.L261M|COPE_ENST00000598969.1_5'UTR|COPE_ENST00000349893.4_Intron|COPE_ENST00000351079.4_Missense_Mutation_p.L187M	NM_007263.3	NP_009194.2	O14579	COPE_HUMAN	coatomer protein complex, subunit epsilon	238					COPI coating of Golgi vesicle (GO:0048205)|intra-Golgi vesicle-mediated transport (GO:0006891)|membrane organization (GO:0061024)|protein transport (GO:0015031)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)	COPI vesicle coat (GO:0030126)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	structural molecule activity (GO:0005198)			breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|skin(1)	11						TCCTGCAGCAGGCCCTCAGCG	0.682																																																	0													24.0	24.0	24.0					19																	19014100		2203	4298	6501	SO:0001583	missense	11316			AJ131182	CCDS12387.1, CCDS12388.1, CCDS12389.1	19p13.11	2008-02-05				ENSG00000105669			2234	protein-coding gene	gene with protein product		606942				10469566	Standard	NM_007263		Approved	epsilon-COP	uc002nkk.3	O14579		ENST00000262812.4:c.712C>A	19.37:g.19014100G>T	ENSP00000262812:p.Leu238Met	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NE29|A6NKA3|O76097|Q6IBB8|Q9UGP6	Missense_Mutation	SNP	pfam_Coatomer_esu,pirsf_Coatomer_esu	p.L238M	ENST00000262812.4	37	c.712	CCDS12387.1	19	.	.	.	.	.	.	.	.	.	.	G	11.44	1.638728	0.29157	.	.	ENSG00000105669	ENST00000262812;ENST00000351079;ENST00000538245	T;T	0.52057	0.68;0.68	5.15	2.95	0.34219	Tetratricopeptide-like helical (1);	0.253292	0.38663	N	0.001612	T	0.64994	0.2649	M	0.76727	2.345	0.80722	D	1	B;P;P	0.40731	0.389;0.728;0.728	P;P;P	0.59171	0.653;0.739;0.853	T	0.62923	-0.6751	10	0.35671	T	0.21	-14.8609	14.2067	0.65739	0.0:0.6544:0.3456:0.0	.	238;187;238	Q53HJ6;A6NKA3;O14579	.;.;COPE_HUMAN	M	238;187;237	ENSP00000262812:L238M;ENSP00000345674:L187M	ENSP00000262812:L238M	L	-	1	2	COPE	18875100	0.985000	0.35326	0.498000	0.27564	0.370000	0.29829	3.032000	0.49736	0.536000	0.28733	0.462000	0.41574	CTG	COPE	-	pfam_Coatomer_esu,pirsf_Coatomer_esu		0.682	COPE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COPE	HGNC	protein_coding	OTTHUMT00000464801.1	G	NM_007263		19014100	-1	no_errors	ENST00000262812	ensembl	human	known	70_37	missense	SNP	0.921	T
COPS3	8533	genome.wustl.edu	37	17	17163731	17163731	+	Missense_Mutation	SNP	C	C	T			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr17:17163731C>T	ENST00000268717.5	-	8	926	c.820G>A	c.(820-822)Gaa>Aaa	p.E274K	COPS3_ENST00000439936.2_Intron|COPS3_ENST00000539941.2_Missense_Mutation_p.E254K	NM_003653.3	NP_003644.2	Q9UNS2	CSN3_HUMAN	COP9 signalosome subunit 3	274	PCI.				cullin deneddylation (GO:0010388)|in utero embryonic development (GO:0001701)|response to light stimulus (GO:0009416)|signal transduction (GO:0007165)	COP9 signalosome (GO:0008180)|cytoplasm (GO:0005737)				NS(1)|large_intestine(3)|lung(6)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	13						TTTCGGAGTTCTGAGGGGTTG	0.413																																																	0													223.0	186.0	199.0					17																	17163731		2203	4300	6503	SO:0001583	missense	8533			AF031647	CCDS11183.1, CCDS56022.1	17p11.2	2013-03-14	2013-03-14		ENSG00000141030	ENSG00000141030			2239	protein-coding gene	gene with protein product		604665	"""COP9 (constitutive photomorphogenic, Arabidopsis, homolog) subunit 3"", ""COP9 constitutive photomorphogenic homolog subunit 3 (Arabidopsis)"""			9535219, 10191102	Standard	NM_003653		Approved	SGN3, CSN3	uc002grd.3	Q9UNS2	OTTHUMG00000059281	ENST00000268717.5:c.820G>A	17.37:g.17163731C>T	ENSP00000268717:p.Glu274Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	B2R683|B4DY81|O43191|Q7LDR6	Missense_Mutation	SNP	pfam_PCI_dom,smart_PCI_dom	p.E274K	ENST00000268717.5	37	c.820	CCDS11183.1	17	.	.	.	.	.	.	.	.	.	.	C	35	5.502485	0.96371	.	.	ENSG00000141030	ENST00000268717;ENST00000539941;ENST00000417352	T;T	0.30981	1.51;1.51	5.47	5.47	0.80525	Proteasome component (PCI) domain (1);	0.000000	0.85682	D	0.000000	T	0.36026	0.0952	L	0.49350	1.555	0.80722	D	1	B	0.33022	0.394	B	0.42138	0.377	T	0.06338	-1.0832	10	0.09084	T	0.74	-26.2809	18.3076	0.90188	0.0:1.0:0.0:0.0	.	274	Q9UNS2	CSN3_HUMAN	K	274;254;305	ENSP00000268717:E274K;ENSP00000437606:E254K	ENSP00000268717:E274K	E	-	1	0	COPS3	17104456	1.000000	0.71417	0.996000	0.52242	0.997000	0.91878	7.481000	0.81124	2.564000	0.86499	0.655000	0.94253	GAA	COPS3	-	pfam_PCI_dom		0.413	COPS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COPS3	HGNC	protein_coding	OTTHUMT00000131603.2	C			17163731	-1	no_errors	ENST00000268717	ensembl	human	known	70_37	missense	SNP	1.000	T
CORO1B	57175	genome.wustl.edu	37	11	67207593	67207593	+	Missense_Mutation	SNP	C	C	T			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr11:67207593C>T	ENST00000341356.5	-	8	1113	c.1003G>A	c.(1003-1005)Gcc>Acc	p.A335T	PTPRCAP_ENST00000326294.3_5'Flank|CORO1B_ENST00000539724.1_Intron|CORO1B_ENST00000393893.1_Missense_Mutation_p.A335T	NM_020441.2	NP_065174.1	Q9BR76	COR1B_HUMAN	coronin, actin binding protein, 1B	335					actin cytoskeleton organization (GO:0030036)|actin filament branching (GO:0090135)|actin filament bundle assembly (GO:0051017)|cell migration (GO:0016477)|endothelial cell chemotaxis (GO:0035767)|negative regulation of Arp2/3 complex-mediated actin nucleation (GO:0034316)|positive regulation of lamellipodium morphogenesis (GO:2000394)|protein localization to cell leading edge (GO:1902463)|ruffle organization (GO:0031529)|wound healing (GO:0042060)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|stress fiber (GO:0001725)	actin filament binding (GO:0051015)|Arp2/3 complex binding (GO:0071933)|identical protein binding (GO:0042802)			cervix(1)|endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)	13			BRCA - Breast invasive adenocarcinoma(15;3.26e-06)			TCTTACCGGGCGATCTCGCAC	0.622																																																	0													59.0	62.0	61.0					11																	67207593		2200	4295	6495	SO:0001583	missense	57175			AK000860	CCDS8164.1	11q13.1	2013-01-10	2001-11-28		ENSG00000172725	ENSG00000172725		"""Coronins"", ""WD repeat domain containing"""	2253	protein-coding gene	gene with protein product		609849	"""coronin, actin-binding protein, 1B"""			9778037	Standard	NM_001018070		Approved	coronin-2	uc001olk.1	Q9BR76	OTTHUMG00000167775	ENST00000341356.5:c.1003G>A	11.37:g.67207593C>T	ENSP00000340211:p.Ala335Thr	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RD45	Missense_Mutation	SNP	pfam_DUF1900,pfam_DUF1899,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.A335T	ENST00000341356.5	37	c.1003	CCDS8164.1	11	.	.	.	.	.	.	.	.	.	.	C	14.89	2.670676	0.47781	.	.	ENSG00000172725	ENST00000393893;ENST00000341356	T;T	0.33654	1.4;1.4	3.86	3.86	0.44501	Domain of unknown function DUF1900 (1);	0.000000	0.40728	N	0.001022	T	0.40247	0.1109	L	0.60904	1.88	0.58432	D	0.999999	P	0.36125	0.538	B	0.40677	0.337	T	0.30060	-0.9991	10	0.29301	T	0.29	.	16.6935	0.85328	0.0:1.0:0.0:0.0	.	335	Q9BR76	COR1B_HUMAN	T	335	ENSP00000377471:A335T;ENSP00000340211:A335T	ENSP00000340211:A335T	A	-	1	0	CORO1B	66964169	1.000000	0.71417	0.974000	0.42286	0.310000	0.27922	7.564000	0.82326	2.428000	0.82296	0.591000	0.81541	GCC	CORO1B	-	pfam_DUF1900		0.622	CORO1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CORO1B	HGNC	protein_coding	OTTHUMT00000396220.1	C	NM_020441		67207593	-1	no_errors	ENST00000341356	ensembl	human	known	70_37	missense	SNP	1.000	T
CORO6	84940	genome.wustl.edu	37	17	27946167	27946167	+	Missense_Mutation	SNP	G	G	A			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr17:27946167G>A	ENST00000445145.2	-	3	363	c.362C>T	c.(361-363)aCg>aTg	p.T121M	RP11-68I3.2_ENST00000581474.1_RNA|CORO6_ENST00000577909.1_Intron|CORO6_ENST00000345068.5_Missense_Mutation_p.T121M|CORO6_ENST00000456796.3_5'Flank|CORO6_ENST00000584969.1_Missense_Mutation_p.T121M|CORO6_ENST00000388767.3_Missense_Mutation_p.T121M|RP11-68I3.10_ENST00000582367.1_RNA|CORO6_ENST00000580212.1_Missense_Mutation_p.T121M			Q6QEF8	CORO6_HUMAN	coronin 6	121					actin cytoskeleton organization (GO:0030036)	actin cytoskeleton (GO:0015629)	actin filament binding (GO:0051015)			breast(1)|cervix(1)|endometrium(1)|large_intestine(4)|lung(4)|prostate(1)|urinary_tract(2)	14						GATAGGTTCCGTAATGTTGCG	0.567																																																	0													50.0	55.0	54.0					17																	27946167		2068	4231	6299	SO:0001583	missense	84940			AF193039	CCDS11252.2	17q11.2	2013-01-10			ENSG00000167549	ENSG00000167549		"""Coronins"", ""WD repeat domain containing"""	21356	protein-coding gene	gene with protein product							Standard	NM_032854		Approved	FLJ14871	uc002hel.2	Q6QEF8	OTTHUMG00000132732	ENST00000445145.2:c.362C>T	17.37:g.27946167G>A	ENSP00000393624:p.Thr121Met	Somatic		WXS	Illumina HiSeq	Phase_IV	B3KU26|Q71MF3|Q8WYH7|Q96K02	Missense_Mutation	SNP	pfam_DUF1900,pfam_DUF1899,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.T121M	ENST00000445145.2	37	c.362		17	.	.	.	.	.	.	.	.	.	.	G	13.82	2.352658	0.41700	.	.	ENSG00000167549	ENST00000345068;ENST00000388767;ENST00000445145	T;T;T	0.68181	-0.31;5.02;5.02	5.69	5.69	0.88448	.	0.531571	0.19982	N	0.101756	T	0.81749	0.4888	M	0.79475	2.455	0.80722	D	1	D	0.76494	0.999	P	0.61397	0.888	T	0.83295	-0.0031	10	0.87932	D	0	0.0921	19.4156	0.94697	0.0:0.0:1.0:0.0	.	121	Q6QEF8-5	.	M	192;121;121	ENSP00000344562:T192M;ENSP00000373419:T121M;ENSP00000393624:T121M	ENSP00000344562:T192M	T	-	2	0	CORO6	24970293	1.000000	0.71417	0.865000	0.33974	0.973000	0.67179	7.627000	0.83176	2.688000	0.91661	0.561000	0.74099	ACG	CORO6	-	superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom		0.567	CORO6-202	KNOWN	basic|appris_candidate_longest	protein_coding	CORO6	HGNC	protein_coding	OTTHUMT00000447831.1	G	NM_032854		27946167	-1	no_errors	ENST00000345068	ensembl	human	known	70_37	missense	SNP	0.998	A
COX19	90639	genome.wustl.edu	37	7	1009016	1009017	+	Stop_Codon_Ins	INS	-	-	T	rs75087611		TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr7:1009016_1009017insT	ENST00000344111.3	-	0	359_360					NM_001031617.2	NP_001026788.1	Q49B96	COX19_HUMAN	cytochrome c oxidase assembly homolog 19 (S. cerevisiae)							cytoplasm (GO:0005737)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)	5		Ovarian(82;0.0112)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;2.15e-15)		ATCAAAATTCATTTTTTTGCCT	0.465																																																	0																																										SO:0001567	stop_retained_variant	90639			AY957566	CCDS34582.1	7p22.3	2012-10-15	2012-10-15		ENSG00000240230	ENSG00000240230		"""Mitochondrial respiratory chain complex assembly factors"""	28074	protein-coding gene	gene with protein product		610429	"""COX19 cytochrome c oxidase assembly homolog (S. cerevisiae)"""			15596615, 16212937	Standard	NM_001031617		Approved	MGC104475	uc003sjp.1	Q49B96	OTTHUMG00000151476	ENST00000344111.3:c.271dupA	7.37:g.1009023_1009023dupT	ENSP00000342015:p.*91Metext*24	Somatic		WXS	Illumina HiSeq	Phase_IV	A4FTX0	Frame_Shift_Ins	INS	pfam_CHCH,superfamily_MTCP1	p.*90fs	ENST00000344111.3	37	c.271_270	CCDS34582.1	7																																																																																			COX19	-	NULL		0.465	COX19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COX19	HGNC	protein_coding	OTTHUMT00000322812.1	-	NM_001031617		1009017	-1	no_errors	ENST00000344111	ensembl	human	known	70_37	frame_shift_ins	INS	0.000:0.000	T
CPNE4	131034	genome.wustl.edu	37	3	131293956	131293956	+	Missense_Mutation	SNP	A	A	C			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr3:131293956A>C	ENST00000512055.1	-	14	3012	c.886T>G	c.(886-888)Ttc>Gtc	p.F296V	CPNE4_ENST00000429747.1_Missense_Mutation_p.F296V|CPNE4_ENST00000512332.1_Missense_Mutation_p.F314V|CPNE4_ENST00000511604.1_Missense_Mutation_p.F296V|CPNE4_ENST00000502818.1_Missense_Mutation_p.F314V			Q96A23	CPNE4_HUMAN	copine IV	296						extracellular vesicular exosome (GO:0070062)				central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|liver(1)|lung(16)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	39						TAGTCCAAGAAAGAATGCATC	0.418																																																	0													131.0	117.0	122.0					3																	131293956		2203	4300	6503	SO:0001583	missense	131034			H29499	CCDS3072.1, CCDS75010.1	3q22.1	2014-09-04			ENSG00000196353	ENSG00000196353			2317	protein-coding gene	gene with protein product	"""copine 8"""	604208				9430674, 12670487	Standard	XM_005247107		Approved	COPN4, CPN4	uc003eok.3	Q96A23	OTTHUMG00000159631	ENST00000512055.1:c.886T>G	3.37:g.131293956A>C	ENSP00000421705:p.Phe296Val	Somatic		WXS	Illumina HiSeq	Phase_IV	D3DNC5|Q8TEX1	Missense_Mutation	SNP	pfam_Copine,pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,smart_VWF_A,pfscan_C2_membr_targeting	p.F314V	ENST00000512055.1	37	c.940	CCDS3072.1	3	.	.	.	.	.	.	.	.	.	.	A	17.10	3.302722	0.60195	.	.	ENSG00000196353	ENST00000512055;ENST00000429747;ENST00000512332;ENST00000511604;ENST00000502818	T;T;T;T;T	0.67171	-0.22;-0.22;-0.25;-0.22;-0.25	5.73	5.73	0.89815	.	0.045928	0.85682	D	0.000000	T	0.79094	0.4388	H	0.96861	3.895	0.80722	D	1	B;B	0.23854	0.016;0.092	B;B	0.23852	0.009;0.049	T	0.80935	-0.1160	10	0.87932	D	0	-25.5422	15.2933	0.73882	1.0:0.0:0.0:0.0	.	314;296	Q96A23-2;Q96A23	.;CPNE4_HUMAN	V	296;296;314;296;314	ENSP00000421705:F296V;ENSP00000411904:F296V;ENSP00000424853:F314V;ENSP00000423811:F296V;ENSP00000421646:F314V	ENSP00000411904:F296V	F	-	1	0	CPNE4	132776646	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	8.086000	0.89520	2.308000	0.77769	0.533000	0.62120	TTC	CPNE4	-	NULL		0.418	CPNE4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CPNE4	HGNC	protein_coding	OTTHUMT00000356583.4	A	NM_130808		131293956	-1	no_errors	ENST00000502818	ensembl	human	known	70_37	missense	SNP	1.000	C
CPSF1	29894	genome.wustl.edu	37	8	145626433	145626433	+	Missense_Mutation	SNP	G	G	A			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr8:145626433G>A	ENST00000349769.3	-	6	518	c.424C>T	c.(424-426)Cgg>Tgg	p.R142W	MIR1234_ENST00000408875.1_RNA	NM_013291.2	NP_037423.2	Q10570	CPSF1_HUMAN	cleavage and polyadenylation specific factor 1, 160kDa	142					gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA cleavage (GO:0006379)|mRNA export from nucleus (GO:0006406)|mRNA polyadenylation (GO:0006378)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	mRNA cleavage and polyadenylation specificity factor complex (GO:0005847)|nucleoplasm (GO:0005654)	mRNA 3'-UTR binding (GO:0003730)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(15)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38	all_cancers(97;6.64e-12)|all_epithelial(106;2.89e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.88e-41)|Epithelial(56;1.67e-40)|all cancers(56;1.2e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0323)|Colorectal(110;0.055)			GGGTCCACCCGCACTCGCGGC	0.682																																					NSCLC(133;1088 1848 27708 34777 35269)												0													18.0	20.0	20.0					8																	145626433		2201	4298	6499	SO:0001583	missense	29894			U37012	CCDS34966.1	8q24	2014-05-06	2002-08-29		ENSG00000071894	ENSG00000071894			2324	protein-coding gene	gene with protein product		606027	"""cleavage and polyadenylation specific factor 1, 160kD subunit"""			7651824, 7590244	Standard	NM_013291		Approved		uc003zcj.3	Q10570	OTTHUMG00000174612	ENST00000349769.3:c.424C>T	8.37:g.145626433G>A	ENSP00000339353:p.Arg142Trp	Somatic		WXS	Illumina HiSeq	Phase_IV	Q96AF0	Missense_Mutation	SNP	pfam_Cleavage/polyA-sp_fac_asu_C	p.R142W	ENST00000349769.3	37	c.424	CCDS34966.1	8	.	.	.	.	.	.	.	.	.	.	G	23.5	4.428898	0.83667	.	.	ENSG00000071894	ENST00000349769;ENST00000531042	T	0.44482	0.92	4.46	4.46	0.54185	.	0.000000	0.64402	D	0.000001	T	0.64940	0.2644	M	0.77103	2.36	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.996;1.0;0.999	T	0.69997	-0.4993	10	0.72032	D	0.01	-7.2889	14.6593	0.68858	0.0:0.0:1.0:0.0	.	142;64;142	B4DEF4;D3DWL9;Q10570	.;.;CPSF1_HUMAN	W	142	ENSP00000339353:R142W	ENSP00000339353:R142W	R	-	1	2	CPSF1	145597241	1.000000	0.71417	0.978000	0.43139	0.773000	0.43773	9.152000	0.94680	2.320000	0.78422	0.561000	0.74099	CGG	CPSF1	-	NULL		0.682	CPSF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CPSF1	HGNC	protein_coding	OTTHUMT00000382422.2	G	NM_013291		145626433	-1	no_errors	ENST00000349769	ensembl	human	known	70_37	missense	SNP	1.000	A
CREB3L3	84699	genome.wustl.edu	37	19	4168383	4168383	+	Missense_Mutation	SNP	A	A	C			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr19:4168383A>C	ENST00000078445.2	+	6	897	c.750A>C	c.(748-750)aaA>aaC	p.K250N	CREB3L3_ENST00000252587.3_Missense_Mutation_p.K190N|CREB3L3_ENST00000602147.1_Intron|CREB3L3_ENST00000595923.1_Missense_Mutation_p.K249N|CREB3L3_ENST00000602257.1_Missense_Mutation_p.K248N	NM_001271995.1|NM_001271996.1|NM_032607.1	NP_001258924.1|NP_001258925.1|NP_115996.1	Q68CJ9	CR3L3_HUMAN	cAMP responsive element binding protein 3-like 3	250	Basic motif. {ECO:0000255|PROSITE- ProRule:PRU00978}.|bZIP. {ECO:0000255|PROSITE- ProRule:PRU00978}.				positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to unfolded protein (GO:0006986)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)			breast(2)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(2)|urinary_tract(3)	24				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0232)|STAD - Stomach adenocarcinoma(1328;0.18)		TCCGCCGGAAAATCCGGAACA	0.547																																																	0													66.0	59.0	61.0					19																	4168383		2203	4300	6503	SO:0001583	missense	84699				CCDS12121.1, CCDS62498.1, CCDS62499.1, CCDS62500.1	19p13.3	2013-01-10				ENSG00000060566		"""basic leucine zipper proteins"""	18855	protein-coding gene	gene with protein product		611998				11353085	Standard	NM_032607		Approved	CREB-H	uc002lzl.4	Q68CJ9		ENST00000078445.2:c.750A>C	19.37:g.4168383A>C	ENSP00000078445:p.Lys250Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	B2R7S6|B7ZL69|M0QYW7|Q6ZMC5|Q96TB9	Missense_Mutation	SNP	pfam_bZIP,superfamily_Euk_TF_DNA-bd,smart_bZIP,pfscan_bZIP	p.K250N	ENST00000078445.2	37	c.750	CCDS12121.1	19	.	.	.	.	.	.	.	.	.	.	A	18.13	3.555861	0.65425	.	.	ENSG00000060566	ENST00000078445;ENST00000381943;ENST00000252587	T;T	0.59502	0.26;0.26	5.06	2.94	0.34122	Basic-leucine zipper (bZIP) transcription factor (3);Eukaryotic transcription factor, Skn-1-like, DNA-binding (1);bZIP transcription factor, bZIP-1 (1);	0.052514	0.85682	D	0.000000	T	0.80954	0.4723	H	0.96691	3.865	0.50467	D	0.999874	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	T	0.80320	-0.1432	10	0.66056	D	0.02	-6.8301	7.7917	0.29125	0.7373:0.0:0.2627:0.0	.	248;249;250	B7ZL69;Q68CJ9-2;Q68CJ9	.;.;CR3L3_HUMAN	N	250;250;190	ENSP00000078445:K250N;ENSP00000252587:K190N	ENSP00000078445:K250N	K	+	3	2	CREB3L3	4119383	1.000000	0.71417	0.999000	0.59377	0.921000	0.55340	2.225000	0.42954	0.351000	0.24027	-0.290000	0.09829	AAA	CREB3L3	-	pfam_bZIP,superfamily_Euk_TF_DNA-bd,smart_bZIP,pfscan_bZIP		0.547	CREB3L3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CREB3L3	HGNC	protein_coding	OTTHUMT00000457922.1	A	NM_032607		4168383	+1	no_errors	ENST00000078445	ensembl	human	known	70_37	missense	SNP	1.000	C
CRISP2	7180	genome.wustl.edu	37	6	49665598	49665598	+	Missense_Mutation	SNP	A	A	C			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr6:49665598A>C	ENST00000339139.4	-	8	726	c.490T>G	c.(490-492)Tac>Gac	p.Y164D		NM_001142407.2|NM_001142408.2|NM_001142417.2|NM_001142435.2|NM_001261822.1|NM_003296.3	NP_001135879.1|NP_001135880.1|NP_001135889.1|NP_001135907.1|NP_001248751.1|NP_003287.1	P16562	CRIS2_HUMAN	cysteine-rich secretory protein 2	164	SCP.				single organismal cell-cell adhesion (GO:0016337)	extracellular space (GO:0005615)				kidney(1)|large_intestine(2)|lung(10)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	19	Lung NSC(77;0.0161)		KIRC - Kidney renal clear cell carcinoma(2;0.106)|Kidney(12;0.156)			CAAACATAGTAGTATTTTAGA	0.318																																																	0													110.0	113.0	112.0					6																	49665598		2203	4300	6503	SO:0001583	missense	7180			X95239	CCDS4928.1	6p12.3	2009-03-12	2003-09-03	2003-09-05	ENSG00000124490	ENSG00000124490			12024	protein-coding gene	gene with protein product	"""cancer/testis antigen 36"""	187430	"""testis specific protein 1 (probe H4-1 p3-1)"""	GAPDL5, TPX1		2613236, 8665901	Standard	NM_003296		Approved	CRISP-2, CT36	uc003ozo.3	P16562	OTTHUMG00000014822	ENST00000339139.4:c.490T>G	6.37:g.49665598A>C	ENSP00000339155:p.Tyr164Asp	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K8M0|Q53FF2|Q5U8Z9|Q7Z7B2	Missense_Mutation	SNP	pfam_Cysteine_rich_secretory,pfam_CAP_domain,superfamily_CAP_domain,smart_Allrgn_V5/Tpx1,prints_Allrgn_V5/Tpx1	p.Y164D	ENST00000339139.4	37	c.490	CCDS4928.1	6	.	.	.	.	.	.	.	.	.	.	A	17.11	3.304673	0.60305	.	.	ENSG00000124490	ENST00000339139;ENST00000211238	T	0.10477	2.87	4.7	3.56	0.40772	Allergen V5/Tpx-1-related, conserved site (1);CAP domain (3);	0.851677	0.10592	N	0.656653	T	0.29093	0.0723	H	0.96142	3.775	0.21897	N	0.999481	D;P	0.60160	0.987;0.592	D;P	0.63381	0.914;0.673	T	0.22487	-1.0215	10	0.87932	D	0	.	8.319	0.32117	0.9034:0.0:0.0966:0.0	.	164;164	Q7Z7B2;P16562	.;CRIS2_HUMAN	D	164	ENSP00000339155:Y164D	ENSP00000211238:Y164D	Y	-	1	0	CRISP2	49773557	0.977000	0.34250	0.906000	0.35671	0.836000	0.47400	4.021000	0.57196	2.105000	0.64084	0.528000	0.53228	TAC	CRISP2	-	pfam_CAP_domain,superfamily_CAP_domain,smart_Allrgn_V5/Tpx1,prints_Allrgn_V5/Tpx1		0.318	CRISP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CRISP2	HGNC	protein_coding	OTTHUMT00000040870.2	A	NM_003296		49665598	-1	no_errors	ENST00000339139	ensembl	human	known	70_37	missense	SNP	0.898	C
CRISPLD1	83690	genome.wustl.edu	37	8	75925233	75925233	+	Silent	SNP	C	C	T			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr8:75925233C>T	ENST00000262207.4	+	4	954	c.486C>T	c.(484-486)ggC>ggT	p.G162G	CRISPLD1_ENST00000517786.1_Missense_Mutation_p.A15V|CRISPLD1_ENST00000523524.1_5'UTR	NM_031461.5	NP_113649.1	Q9H336	CRLD1_HUMAN	cysteine-rich secretory protein LCCL domain containing 1	162	SCP.				face morphogenesis (GO:0060325)	extracellular vesicular exosome (GO:0070062)				biliary_tract(1)|central_nervous_system(1)|endometrium(3)|kidney(7)|large_intestine(10)|lung(16)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Breast(64;0.0799)		Epithelial(68;0.155)|BRCA - Breast invasive adenocarcinoma(89;0.161)			GGTGTTCTGGCCCTGTATGTA	0.393																																																	0													103.0	88.0	93.0					8																	75925233		2203	4300	6503	SO:0001819	synonymous_variant	83690			AL834301	CCDS6219.1, CCDS69497.1, CCDS75754.1	8q21.13	2005-09-23	2005-02-16	2005-02-16	ENSG00000121005	ENSG00000121005			18206	protein-coding gene	gene with protein product			"""LCCL domain containing cysteine-rich secretory protein 1"""	LCRISP1			Standard	NM_031461		Approved	Cocoacrisp, DKFZp762F133	uc003yan.3	Q9H336	OTTHUMG00000164529	ENST00000262207.4:c.486C>T	8.37:g.75925233C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B2RA60|B7Z929	Missense_Mutation	SNP	pfam_LCCL,superfamily_LCCL,smart_LCCL,pfscan_LCCL	p.A15V	ENST00000262207.4	37	c.44	CCDS6219.1	8	.	.	.	.	.	.	.	.	.	.	C	9.581	1.123463	0.20959	.	.	ENSG00000121005	ENST00000517786	T	0.81247	-1.47	5.37	-6.85	0.01681	.	.	.	.	.	T	0.62208	0.2409	.	.	.	0.09310	N	0.999999	B	0.02656	0.0	B	0.01281	0.0	T	0.51188	-0.8737	8	0.87932	D	0	.	0.7671	0.01017	0.2935:0.2383:0.101:0.3672	.	15	B7Z929	.	V	15	ENSP00000429746:A15V	ENSP00000429746:A15V	A	+	2	0	CRISPLD1	76087788	0.452000	0.25713	0.910000	0.35882	0.043000	0.13939	-0.513000	0.06305	-1.088000	0.03077	-2.191000	0.00312	GCC	CRISPLD1	-	NULL		0.393	CRISPLD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CRISPLD1	HGNC	protein_coding	OTTHUMT00000379117.1	C	NM_031461		75925233	+1	no_errors	ENST00000517786	ensembl	human	putative	70_37	missense	SNP	0.729	T
CRMP1	1400	genome.wustl.edu	37	4	5830265	5830265	+	Missense_Mutation	SNP	C	C	T			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr4:5830265C>T	ENST00000397890.2	-	12	1626	c.1412G>A	c.(1411-1413)cGg>cAg	p.R471Q	CRMP1_ENST00000512574.1_Missense_Mutation_p.R469Q|EVC_ENST00000382674.2_3'UTR|CRMP1_ENST00000324989.7_Missense_Mutation_p.R585Q|CRMP1_ENST00000511535.1_5'UTR	NM_001313.3	NP_001304.1	Q14194	DPYL1_HUMAN	collapsin response mediator protein 1	471					axon guidance (GO:0007411)|nervous system development (GO:0007399)|nucleobase-containing compound metabolic process (GO:0006139)|pyrimidine nucleobase catabolic process (GO:0006208)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amides (GO:0016812)			NS(1)|cervix(2)|endometrium(4)|large_intestine(10)|lung(11)|ovary(2)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	36				Colorectal(103;0.0721)		GAACGCCTTCCGCGGAATGAA	0.602																																																	0													133.0	99.0	110.0					4																	5830265		2203	4300	6503	SO:0001583	missense	1400			D78012	CCDS33950.1, CCDS43207.1, CCDS75102.1	4p16.1	2008-05-15			ENSG00000072832	ENSG00000072832			2365	protein-coding gene	gene with protein product		602462				8973361	Standard	XM_005247940		Approved	DRP-1, DPYSL1	uc003gis.3	Q14194	OTTHUMG00000125489	ENST00000397890.2:c.1412G>A	4.37:g.5830265C>T	ENSP00000380987:p.Arg471Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	A0EJG6|Q13024|Q4W5F1|Q96TC8	Missense_Mutation	SNP	pfam_Amidohydro_1,superfamily_Metal-dep_hydrolase_composite,tigrfam_Hydantoinase/dihydroPyrase	p.R585Q	ENST00000397890.2	37	c.1754	CCDS43207.1	4	.	.	.	.	.	.	.	.	.	.	C	19.82	3.898880	0.72754	.	.	ENSG00000072832	ENST00000324989;ENST00000397890;ENST00000534845;ENST00000512574	T;T;T	0.80033	-1.33;-1.33;-1.33	4.33	4.33	0.51752	Metal-dependent hydrolase, composite domain (1);	0.000000	0.85682	D	0.000000	D	0.89942	0.6861	M	0.83483	2.645	0.58432	D	0.999999	D;D;D;D	0.89917	0.999;0.994;1.0;1.0	D;P;D;D	0.97110	0.988;0.61;0.983;1.0	D	0.91415	0.5154	10	0.62326	D	0.03	-31.303	15.9993	0.80280	0.0:1.0:0.0:0.0	.	585;469;471;408	A0EJG6;E9PD68;Q14194;B3KT07	.;.;DPYL1_HUMAN;.	Q	585;471;471;469	ENSP00000321606:R585Q;ENSP00000380987:R471Q;ENSP00000425742:R469Q	ENSP00000321606:R585Q	R	-	2	0	CRMP1	5881166	1.000000	0.71417	0.971000	0.41717	0.166000	0.22503	7.287000	0.78681	2.245000	0.73994	0.561000	0.74099	CGG	CRMP1	-	superfamily_Metal-dep_hydrolase_composite,tigrfam_Hydantoinase/dihydroPyrase		0.602	CRMP1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	CRMP1	HGNC	protein_coding	OTTHUMT00000358871.1	C	NM_001313		5830265	-1	no_errors	ENST00000324989	ensembl	human	known	70_37	missense	SNP	1.000	T
CROCCP2	84809	genome.wustl.edu	37	1	16956993	16956993	+	lincRNA	SNP	A	A	G			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr1:16956993A>G	ENST00000412962.1	-	0	294							Q86T23	CROL1_HUMAN	ciliary rootlet coiled-coil, rootletin pseudogene 2						centrosome organization (GO:0051297)	ciliary rootlet (GO:0035253)											ACTCCTCCCTACCCTGGCTCT	0.597																																																	0																																												84809			AK090414		1p36.13	2010-07-08	2010-07-08	2010-07-08	ENSG00000215908	ENSG00000215908			28170	pseudogene	pseudogene			"""ciliary rootlet coiled-coil, rootletin-like 1"""	CROCCL1		12477932	Standard	NR_026752		Approved	MGC12760	uc001azf.3	Q86T23	OTTHUMG00000037884		1.37:g.16956993A>G		Somatic		WXS	Illumina HiSeq	Phase_IV	Q8NF65|Q96FR5|Q9BRE8	RNA	SNP	-	NULL	ENST00000412962.1	37	NULL		1																																																																																			CROCCP2	-	-		0.597	CROCCP2-003	KNOWN	basic	lincRNA	CROCCP2	HGNC	lincRNA	OTTHUMT00000092784.1	A	NR_026752.1		16956993	-1	no_errors	ENST00000362058	ensembl	human	known	70_37	rna	SNP	0.002	G
YBX3	8531	genome.wustl.edu	37	12	10862601	10862601	+	Missense_Mutation	SNP	C	C	T			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr12:10862601C>T	ENST00000228251.4	-	6	886	c.686G>A	c.(685-687)cGc>cAc	p.R229H	YBX3_ENST00000279550.7_Intron|YBX3_ENST00000546164.1_5'UTR	NM_003651.4	NP_003642.3	P16989	YBOX3_HUMAN	Y box binding protein 3	229					3'-UTR-mediated mRNA stabilization (GO:0070935)|cellular hyperosmotic response (GO:0071474)|cellular response to tumor necrosis factor (GO:0071356)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|male gonad development (GO:0008584)|negative regulation of apoptotic process (GO:0043066)|negative regulation of intrinsic apoptotic signaling pathway in response to osmotic stress (GO:1902219)|negative regulation of necroptotic process (GO:0060546)|negative regulation of skeletal muscle tissue development (GO:0048642)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cytoplasmic translation (GO:2000767)|positive regulation of organ growth (GO:0046622)|response to cold (GO:0009409)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|polysome (GO:0005844)|tight junction (GO:0005923)	double-stranded DNA binding (GO:0003690)|mRNA 3'-UTR binding (GO:0003730)|poly(A) RNA binding (GO:0044822)|Rho GTPase binding (GO:0017048)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)|transcription corepressor activity (GO:0003714)										GTACTGAGGGCGATACTGGGG	0.617																																																	0													31.0	35.0	34.0					12																	10862601		2203	4300	6503	SO:0001583	missense	8531			L29064	CCDS8630.1, CCDS44831.1	12p13.1	2013-03-13	2013-03-13	2013-03-13	ENSG00000060138	ENSG00000060138			2428	protein-coding gene	gene with protein product	"""cold-shock domain containing A1"""	603437	"""cold shock domain protein A"""	CSDA		2977358, 8710501	Standard	NM_003651		Approved	dbpA, ZONAB, CSDA1	uc001qyt.3	P16989	OTTHUMG00000168409	ENST00000228251.4:c.686G>A	12.37:g.10862601C>T	ENSP00000228251:p.Arg229His	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RBW6|Q14121|Q969N6|Q96B76	Missense_Mutation	SNP	pfam_CSP_DNA-bd,superfamily_NA-bd_OB-fold-like,smart_Cold_shock_prot,prints_CSP_DNA-bd	p.R229H	ENST00000228251.4	37	c.686	CCDS8630.1	12	.	.	.	.	.	.	.	.	.	.	C	22.3	4.276153	0.80580	.	.	ENSG00000060138	ENST00000228251	T	0.27256	1.68	4.87	3.98	0.46160	.	0.263447	0.27739	N	0.018047	T	0.31009	0.0783	M	0.82823	2.61	0.31711	N	0.639517	P	0.50443	0.935	B	0.42916	0.402	T	0.45891	-0.9230	10	0.27785	T	0.31	.	9.0297	0.36252	0.0:0.8993:0.0:0.1007	.	229	P16989	DBPA_HUMAN	H	229	ENSP00000228251:R229H	ENSP00000228251:R229H	R	-	2	0	CSDA	10753868	1.000000	0.71417	0.997000	0.53966	0.989000	0.77384	1.484000	0.35508	1.408000	0.46895	0.655000	0.94253	CGC	CSDA	-	NULL		0.617	YBX3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CSDA	HGNC	protein_coding	OTTHUMT00000399628.1	C	NM_003651		10862601	-1	no_errors	ENST00000228251	ensembl	human	known	70_37	missense	SNP	0.998	T
CSGALNACT2	55454	genome.wustl.edu	37	10	43678974	43678974	+	Missense_Mutation	SNP	G	G	T			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr10:43678974G>T	ENST00000374466.3	+	8	1948	c.1613G>T	c.(1612-1614)aGt>aTt	p.S538I		NM_018590.3	NP_061060.3	Q8N6G5	CGAT2_HUMAN	chondroitin sulfate N-acetylgalactosaminyltransferase 2	538					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|chondroitin sulfate proteoglycan biosynthetic process (GO:0050650)|chondroitin sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process (GO:0050653)|dermatan sulfate proteoglycan biosynthetic process (GO:0050651)|dermatan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process (GO:0050652)|glycosaminoglycan metabolic process (GO:0030203)|proteoglycan biosynthetic process (GO:0030166)|small molecule metabolic process (GO:0044281)	Golgi cisterna membrane (GO:0032580)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)|membrane (GO:0016020)	acetylgalactosaminyltransferase activity (GO:0008376)|glucuronylgalactosylproteoglycan 4-beta-N-acetylgalactosaminyltransferase activity (GO:0047237)|metal ion binding (GO:0046872)			endometrium(12)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						AGGACAAACAGTGAAGCTGTT	0.428																																																	0													89.0	84.0	86.0					10																	43678974		2203	4300	6503	SO:0001583	missense	55454			AF116646	CCDS7201.1	10q11.21	2013-02-19			ENSG00000169826	ENSG00000169826		"""Beta 4-glycosyltransferases"""	24292	protein-coding gene	gene with protein product	"""chondroitin beta1,4 N-acetylgalactosaminyltransferase 2"""					12446672	Standard	NM_018590		Approved	GALNACT2, MGC40204, PRO0082, GALNACT-2	uc001jan.4	Q8N6G5	OTTHUMG00000018023	ENST00000374466.3:c.1613G>T	10.37:g.43678974G>T	ENSP00000363590:p.Ser538Ile	Somatic		WXS	Illumina HiSeq	Phase_IV	B3KWL7|Q6MZJ5|Q6MZP6|Q8TCH4|Q9P1I6	Missense_Mutation	SNP	pfam_Chond_GalNAc	p.S538I	ENST00000374466.3	37	c.1613	CCDS7201.1	10	.	.	.	.	.	.	.	.	.	.	G	15.83	2.947650	0.53186	.	.	ENSG00000169826	ENST00000374466	T	0.26518	1.73	5.87	4.97	0.65823	.	1.977970	0.01711	N	0.027721	T	0.24774	0.0601	N	0.22421	0.69	0.80722	D	1	B	0.18741	0.03	B	0.15484	0.013	T	0.06607	-1.0817	10	0.72032	D	0.01	-6.135	11.3846	0.49778	0.1382:0.0:0.8618:0.0	.	538	Q8N6G5	CGAT2_HUMAN	I	538	ENSP00000363590:S538I	ENSP00000363590:S538I	S	+	2	0	CSGALNACT2	42998980	1.000000	0.71417	0.083000	0.20561	0.880000	0.50808	4.099000	0.57755	1.627000	0.50400	0.655000	0.94253	AGT	CSGALNACT2	-	NULL		0.428	CSGALNACT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CSGALNACT2	HGNC	protein_coding	OTTHUMT00000047693.1	G	NM_018590		43678974	+1	no_errors	ENST00000374466	ensembl	human	known	70_37	missense	SNP	0.956	T
CSMD1	64478	genome.wustl.edu	37	8	2855580	2855580	+	Missense_Mutation	SNP	T	T	A			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr8:2855580T>A	ENST00000520002.1	-	55	8888	c.8333A>T	c.(8332-8334)cAg>cTg	p.Q2778L	CSMD1_ENST00000542608.1_Missense_Mutation_p.Q2719L|CSMD1_ENST00000602557.1_Missense_Mutation_p.Q2778L|CSMD1_ENST00000602723.1_Missense_Mutation_p.Q2720L|CSMD1_ENST00000537824.1_Missense_Mutation_p.Q2777L|CSMD1_ENST00000400186.3_Missense_Mutation_p.Q2720L			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	2778	Sushi 19. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)				breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		GCTCCGACACTGGGCTCGAGA	0.562																																																	0													78.0	78.0	78.0					8																	2855580		2044	4201	6245	SO:0001583	missense	64478					8p23.2	2012-04-17			ENSG00000183117	ENSG00000183117		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	14026	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 24"""	608397					Standard	NM_033225		Approved	KIAA1890, PPP1R24	uc022aqr.1	Q96PZ7	OTTHUMG00000163605	ENST00000520002.1:c.8333A>T	8.37:g.2855580T>A	ENSP00000430733:p.Gln2778Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	Q0H0J5|Q96QU9|Q96RM4	Missense_Mutation	SNP	pfam_CUB,pfam_Sushi_SCR_CCP,superfamily_CUB,superfamily_Complement_control_module,smart_CUB,smart_Sushi_SCR_CCP,pfscan_CUB,pfscan_Sushi_SCR_CCP	p.Q2778L	ENST00000520002.1	37	c.8333		8	.	.	.	.	.	.	.	.	.	.	T	19.80	3.894792	0.72639	.	.	ENSG00000183117	ENST00000400186;ENST00000520002;ENST00000318252;ENST00000537824;ENST00000542608	T;T;T;T	0.63744	-0.06;-0.06;-0.06;-0.06	6.07	6.07	0.98685	Complement control module (2);Sushi/SCR/CCP (3);	0.000000	0.64402	D	0.000001	T	0.74726	0.3754	L	0.58354	1.805	0.80722	D	1	D;P;D	0.69078	0.969;0.815;0.997	D;P;D	0.70227	0.968;0.619;0.96	T	0.70525	-0.4848	10	0.23302	T	0.38	.	16.6288	0.85011	0.0:0.0:0.0:1.0	.	2778;2778;2719	E5RIG2;Q96PZ7;F5H2I8	.;CSMD1_HUMAN;.	L	2720;2778;2639;2777;2719	ENSP00000383047:Q2720L;ENSP00000430733:Q2778L;ENSP00000441462:Q2777L;ENSP00000446243:Q2719L	ENSP00000320445:Q2639L	Q	-	2	0	CSMD1	2842987	1.000000	0.71417	1.000000	0.80357	0.923000	0.55619	6.064000	0.71169	2.326000	0.78906	0.533000	0.62120	CAG	CSMD1	-	pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP		0.562	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	CSMD1	HGNC	protein_coding	OTTHUMT00000374500.2	T	NM_033225		2855580	-1	no_errors	ENST00000520002	ensembl	human	known	70_37	missense	SNP	1.000	A
CSMD3	114788	genome.wustl.edu	37	8	113657418	113657418	+	Missense_Mutation	SNP	G	G	T			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr8:113657418G>T	ENST00000297405.5	-	20	3474	c.3230C>A	c.(3229-3231)aCa>aAa	p.T1077K	MIR2053_ENST00000459295.1_RNA|CSMD3_ENST00000455883.2_Missense_Mutation_p.T973K|CSMD3_ENST00000343508.3_Missense_Mutation_p.T1037K|CSMD3_ENST00000352409.3_Missense_Mutation_p.T1077K	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	1077	CUB 6. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TGATAAGATTGTTCCACTAGG	0.403										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																																							0													91.0	89.0	90.0					8																	113657418		2203	4300	6503	SO:0001583	missense	114788			AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.3230C>A	8.37:g.113657418G>T	ENSP00000297405:p.Thr1077Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q96PZ3	Missense_Mutation	SNP	pfam_CUB,pfam_Sushi_SCR_CCP,superfamily_CUB,superfamily_Complement_control_module,smart_CUB,smart_Sushi_SCR_CCP,pfscan_CUB,pfscan_Sushi_SCR_CCP	p.T1077K	ENST00000297405.5	37	c.3230	CCDS6315.1	8	.	.	.	.	.	.	.	.	.	.	G	27.1	4.797987	0.90538	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.32272	1.46;1.46;1.46;1.46;1.46	5.68	5.68	0.88126	CUB (5);	0.328252	0.29002	N	0.013452	T	0.62344	0.2420	M	0.91090	3.175	0.42186	D	0.9917	P;P;D	0.69078	0.696;0.741;0.997	P;P;D	0.71184	0.535;0.665;0.972	T	0.63139	-0.6704	10	0.09843	T	0.71	.	20.1553	0.98111	0.0:0.0:1.0:0.0	.	973;1077;1037	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	K	1037;1077;417;973;1077	ENSP00000345799:T1037K;ENSP00000297405:T1077K;ENSP00000341558:T417K;ENSP00000412263:T973K;ENSP00000343124:T1077K	ENSP00000297405:T1077K	T	-	2	0	CSMD3	113726594	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	5.675000	0.68123	2.838000	0.97847	0.591000	0.81541	ACA	CSMD3	-	pfam_CUB,superfamily_CUB,smart_CUB,pfscan_CUB		0.403	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CSMD3	HGNC	protein_coding	OTTHUMT00000347141.1	G	NM_052900		113657418	-1	no_errors	ENST00000297405	ensembl	human	known	70_37	missense	SNP	1.000	T
CSMD3	114788	genome.wustl.edu	37	8	113662424	113662425	+	Frame_Shift_Ins	INS	-	-	T			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr8:113662424_113662425insT	ENST00000297405.5	-	19	3402_3403	c.3158_3159insA	c.(3157-3159)aacfs	p.N1053fs	CSMD3_ENST00000455883.2_Frame_Shift_Ins_p.N949fs|CSMD3_ENST00000343508.3_Frame_Shift_Ins_p.N1013fs|CSMD3_ENST00000352409.3_Frame_Shift_Ins_p.N1053fs	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	1053	Sushi 5. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TCCACCAGTGGTTTTTTTCGCA	0.376										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																																							0																																										SO:0001589	frameshift_variant	114788			AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.3159dupA	8.37:g.113662431_113662431dupT	ENSP00000297405:p.Asn1053fs	Somatic		WXS	Illumina HiSeq	Phase_IV	Q96PZ3	Frame_Shift_Ins	INS	pfam_CUB,pfam_Sushi_SCR_CCP,superfamily_CUB,superfamily_Complement_control_module,smart_CUB,smart_Sushi_SCR_CCP,pfscan_CUB,pfscan_Sushi_SCR_CCP	p.N1053fs	ENST00000297405.5	37	c.3159_3158	CCDS6315.1	8																																																																																			CSMD3	-	pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP		0.376	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CSMD3	HGNC	protein_coding	OTTHUMT00000347141.1	-	NM_052900		113662425	-1	no_errors	ENST00000297405	ensembl	human	known	70_37	frame_shift_ins	INS	1.000:1.000	T
CSNK1A1	1452	genome.wustl.edu	37	5	148899919	148899919	+	Silent	SNP	C	C	T			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr5:148899919C>T	ENST00000377843.2	-	4	869	c.390G>A	c.(388-390)aaG>aaA	p.K130K	CSNK1A1_ENST00000504676.1_Silent_p.K41K|CSNK1A1_ENST00000515768.1_Silent_p.K130K|CSNK1A1_ENST00000261798.5_Silent_p.K130K|CSNK1A1_ENST00000515435.1_Silent_p.K41K	NM_001025105.1|NM_001892.4	NP_001020276.1|NP_001883.4	P48729	KC1A_HUMAN	casein kinase 1, alpha 1	130	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell surface receptor signaling pathway (GO:0007166)|mitotic nuclear division (GO:0007067)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)|Wnt signaling pathway (GO:0016055)	centrosome (GO:0005813)|cytosol (GO:0005829)|kinetochore (GO:0000776)|membrane (GO:0016020)|nuclear speck (GO:0016607)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|lung(4)	14			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)	GBM - Glioblastoma multiforme(465;0.0407)		GTATAAAATTCTTTGTATGCA	0.318																																					Colon(5;64 69 1309 10383)												0													87.0	89.0	88.0					5																	148899919		2168	4279	6447	SO:0001819	synonymous_variant	1452			AF119911	CCDS47303.1, CCDS47304.1, CCDS64291.1	5q32	2013-01-17			ENSG00000113712	ENSG00000113712			2451	protein-coding gene	gene with protein product	"""clock regulator kinase"""	600505				8050587	Standard	NM_001025105		Approved	CK1, CK1a, CK1alpha, CKIa, CKIalpha	uc003lqw.2	P48729	OTTHUMG00000163463	ENST00000377843.2:c.390G>A	5.37:g.148899919C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	D3DQG0|D3DQG1|Q4JJA0|Q5U046|Q5U047|Q6FGA2|Q71TU5|Q96HD2|Q9UDK3	Silent	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_cat_dom	p.K130	ENST00000377843.2	37	c.390	CCDS47303.1	5																																																																																			CSNK1A1	-	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_cat_dom		0.318	CSNK1A1-201	KNOWN	basic|CCDS	protein_coding	CSNK1A1	HGNC	protein_coding		C	NM_001892		148899919	-1	no_errors	ENST00000515768	ensembl	human	known	70_37	silent	SNP	1.000	T
CTCFL	140690	genome.wustl.edu	37	20	56082640	56082640	+	Intron	SNP	C	C	G			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr20:56082640C>G	ENST00000608263.1	-	8	2336				CTCFL_ENST00000608440.1_Intron|CTCFL_ENST00000432255.2_Nonstop_Mutation_p.*484S|CTCFL_ENST00000429804.3_Intron|CTCFL_ENST00000243914.3_Intron|CTCFL_ENST00000502686.2_Intron|CTCFL_ENST00000423479.3_Intron|CTCFL_ENST00000539382.1_Nonstop_Mutation_p.*423S|CTCFL_ENST00000608903.1_3'UTR|CTCFL_ENST00000609232.1_Intron|CTCFL_ENST00000433949.3_Intron|CTCFL_ENST00000422869.2_3'UTR|CTCFL_ENST00000371196.2_Intron|CTCFL_ENST00000608425.1_Nonstop_Mutation_p.*628S	NM_001269041.1	NP_001255970.1	Q8NI51	CTCFL_HUMAN	CCCTC-binding factor (zinc finger protein)-like						cell cycle (GO:0007049)|DNA methylation involved in gamete generation (GO:0043046)|histone methylation (GO:0016571)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of histone H3-K4 methylation (GO:0051569)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone binding (GO:0042393)|metal ion binding (GO:0046872)|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 positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|transcription regulatory region DNA binding (GO:0044212)			NS(1)|breast(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(28)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58	Lung NSC(12;0.00132)|all_lung(29;0.00433)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;3.95e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.09e-07)			ggaggacactcaagcagccct	0.587																																																	0																																										SO:0001627	intron_variant	140690				CCDS13459.1, CCDS58776.1, CCDS58777.1, CCDS58778.1, CCDS58779.1, CCDS58780.1, CCDS58781.1, CCDS58782.1, CCDS68161.1, CCDS68162.1, CCDS68163.1, CCDS68164.1	20q13.31	2013-01-08			ENSG00000124092	ENSG00000124092		"""Zinc fingers, C2H2-type"""	16234	protein-coding gene	gene with protein product	"""cancer/testis antigen 27"""	607022					Standard	NM_001269040		Approved	dJ579F20.2, BORIS, CT27	uc010giw.1	Q8NI51	OTTHUMG00000032829	ENST00000608263.1:c.1674+1021G>C	20.37:g.56082640C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	A0S6W1|A1L4C6|A6XGL8|A6XGM2|A6XGM3|A6XGM8|A6XGN0|A6XGN1|A6XGN2|A6XGN3|A6XGN4|E7EQ27|E7EUE3|E9PBA9|Q5JUG4|Q9BZ30|Q9NQJ3	Nonstop_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.*484S	ENST00000608263.1	37	c.1451	CCDS13459.1	20	.	.	.	.	.	.	.	.	.	.	C	0.017	-1.510333	0.00984	.	.	ENSG00000124092	ENST00000432255;ENST00000539382	.	.	.	1.89	-3.79	0.04320	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.8662	0.13609	0.0:0.2171:0.5808:0.2021	.	.	.	.	S	484;423	.	.	X	-	2	2	CTCFL	55516046	0.000000	0.05858	0.001000	0.08648	0.087000	0.18053	-1.498000	0.02287	-1.122000	0.02945	0.561000	0.74099	TGA	CTCFL	-	NULL		0.587	CTCFL-019	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	CTCFL	HGNC	protein_coding	OTTHUMT00000472040.1	C	NM_080618		56082640	-1	no_errors	ENST00000432255	ensembl	human	known	70_37	nonstop	SNP	0.001	G
CTNND2	1501	genome.wustl.edu	37	5	10992687	10992687	+	Missense_Mutation	SNP	G	G	A			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr5:10992687G>A	ENST00000304623.8	-	19	3376	c.3187C>T	c.(3187-3189)Cgc>Tgc	p.R1063C	CTNND2_ENST00000503622.1_Missense_Mutation_p.R726C|CTNND2_ENST00000458100.2_Missense_Mutation_p.R630C|CTNND2_ENST00000495388.2_5'UTR|CTNND2_ENST00000359640.2_Missense_Mutation_p.R1005C|CTNND2_ENST00000511377.1_Missense_Mutation_p.R972C	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	1063					cell adhesion (GO:0007155)|learning (GO:0007612)|morphogenesis of a branching structure (GO:0001763)|multicellular organismal development (GO:0007275)|regulation of synaptic plasticity (GO:0048167)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						GGAGACACGCGCACAGGGGAG	0.592																																																	0													94.0	87.0	89.0					5																	10992687		2203	4300	6503	SO:0001583	missense	1501			U52828	CCDS3881.1, CCDS75227.1, CCDS75228.1	5p15.2	2013-02-14	2012-08-15		ENSG00000169862	ENSG00000169862		"""Armadillo repeat containing"""	2516	protein-coding gene	gene with protein product	"""neural plakophilin-related arm-repeat protein"""	604275	"""catenin (cadherin-associated protein), delta 2 (neural plakophilin-related arm-repeat protein)"""			9342840, 9223106	Standard	XM_005248251		Approved	NPRAP, GT24	uc003jfa.1	Q9UQB3	OTTHUMG00000090511	ENST00000304623.8:c.3187C>T	5.37:g.10992687G>A	ENSP00000307134:p.Arg1063Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	B0FTZ7|O00379|O15390|O43206|O43840|Q13589|Q9UM66|Q9UPM3	Missense_Mutation	SNP	pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo	p.R1063C	ENST00000304623.8	37	c.3187	CCDS3881.1	5	.	.	.	.	.	.	.	.	.	.	G	20.7	4.034639	0.75617	.	.	ENSG00000169862	ENST00000304623;ENST00000359640;ENST00000511377;ENST00000538638;ENST00000458100;ENST00000503622	T;T;T;T;T	0.79653	-1.16;-1.24;-1.16;-1.29;-1.28	5.37	4.51	0.55191	.	0.172136	0.50627	N	0.000115	D	0.85898	0.5804	L	0.47716	1.5	0.80722	D	1	D;D;B	0.89917	1.0;1.0;0.16	D;D;B	0.77557	0.99;0.99;0.009	D	0.87125	0.2193	10	0.87932	D	0	-7.4389	14.0048	0.64456	0.0729:0.0:0.9271:0.0	.	726;655;1063	B4DRK2;B4DG58;Q9UQB3	.;.;CTND2_HUMAN	C	1063;1005;972;158;630;726	ENSP00000307134:R1063C;ENSP00000352661:R1005C;ENSP00000426510:R972C;ENSP00000391155:R630C;ENSP00000426887:R726C	ENSP00000307134:R1063C	R	-	1	0	CTNND2	11045687	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.660000	0.54496	1.282000	0.44496	0.650000	0.86243	CGC	CTNND2	-	NULL		0.592	CTNND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CTNND2	HGNC	protein_coding	OTTHUMT00000206999.1	G	NM_001332		10992687	-1	no_errors	ENST00000304623	ensembl	human	known	70_37	missense	SNP	1.000	A
CTR9	9646	genome.wustl.edu	37	11	10794773	10794773	+	Missense_Mutation	SNP	G	G	A			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr11:10794773G>A	ENST00000361367.2	+	21	3106	c.2680G>A	c.(2680-2682)Gag>Aag	p.E894K		NM_014633.3	NP_055448.1	Q6PD62	CTR9_HUMAN	CTR9, Paf1/RNA polymerase II complex component	894	Lys-rich.				cellular response to lipopolysaccharide (GO:0071222)|endodermal cell fate commitment (GO:0001711)|histone H2B ubiquitination (GO:0033523)|histone H3-K4 trimethylation (GO:0080182)|histone monoubiquitination (GO:0010390)|interleukin-6-mediated signaling pathway (GO:0070102)|JAK-STAT cascade (GO:0007259)|negative regulation of myeloid cell differentiation (GO:0045638)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of histone H3-K79 methylation (GO:2001162)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	Cdc73/Paf1 complex (GO:0016593)|transcriptionally active chromatin (GO:0035327)				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(12)|ovary(2)|pancreas(1)|stomach(1)	40				all cancers(16;1.64e-07)|Epithelial(150;2.47e-07)|BRCA - Breast invasive adenocarcinoma(625;0.111)		GTTTACTGGTGAGACTGAAGC	0.428																																																	0													133.0	135.0	134.0					11																	10794773		2201	4294	6495	SO:0001583	missense	9646			D63875	CCDS7805.1	11p15.3	2013-07-03	2013-07-03	2006-05-22	ENSG00000198730	ENSG00000198730		"""Tetratricopeptide (TTC) repeat domain containing"""	16850	protein-coding gene	gene with protein product		609366	"""SH2 domain binding protein 1 (tetratricopeptide repeat containing)"", ""Ctr9, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae)"""	SH2BP1		8590280, 8636124	Standard	NM_014633		Approved	KIAA0155, TSBP, p150TSP	uc001mja.3	Q6PD62	OTTHUMG00000165789	ENST00000361367.2:c.2680G>A	11.37:g.10794773G>A	ENSP00000355013:p.Glu894Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	D3DQV8|Q15015	Missense_Mutation	SNP	pfam_TPR-1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.E894K	ENST00000361367.2	37	c.2680	CCDS7805.1	11	.	.	.	.	.	.	.	.	.	.	G	14.88	2.667329	0.47677	.	.	ENSG00000198730	ENST00000361367	T	0.56444	0.46	5.93	5.93	0.95920	.	0.282278	0.41194	D	0.000937	T	0.46541	0.1398	L	0.40543	1.245	0.52099	D	0.999944	B	0.27498	0.18	B	0.24006	0.05	T	0.31971	-0.9924	10	0.17832	T	0.49	-27.3767	20.3495	0.98807	0.0:0.0:1.0:0.0	.	894	Q6PD62	CTR9_HUMAN	K	894	ENSP00000355013:E894K	ENSP00000355013:E894K	E	+	1	0	CTR9	10751349	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.484000	0.81180	2.814000	0.96858	0.591000	0.81541	GAG	CTR9	-	NULL		0.428	CTR9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CTR9	HGNC	protein_coding	OTTHUMT00000386215.1	G	NM_014633		10794773	+1	no_errors	ENST00000361367	ensembl	human	known	70_37	missense	SNP	0.995	A
CTTNBP2	83992	genome.wustl.edu	37	7	117424398	117424398	+	Missense_Mutation	SNP	A	A	C			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr7:117424398A>C	ENST00000160373.3	-	5	2270	c.2179T>G	c.(2179-2181)Tca>Gca	p.S727A		NM_033427.2	NP_219499.1	Q8WZ74	CTTB2_HUMAN	cortactin binding protein 2	727					brain development (GO:0007420)	cell projection (GO:0042995)|synaptic vesicle (GO:0008021)				breast(3)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(36)|ovary(4)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83	Lung NSC(10;0.0018)|all_lung(10;0.002)			LUSC - Lung squamous cell carcinoma(290;0.133)		AGCAGCATTGATAATAAAGTG	0.483																																																	0													121.0	129.0	126.0					7																	117424398		2203	4300	6503	SO:0001583	missense	83992				CCDS5774.1	7q31	2013-01-10	2004-06-08	2004-06-09	ENSG00000077063	ENSG00000077063		"""Ankyrin repeat domain containing"""	15679	protein-coding gene	gene with protein product		609772	"""cortactin binding protein 2"""	CORTBP2, C7orf8		11707066	Standard	XM_005250635		Approved	KIAA1758, Orf4	uc003vjf.3	Q8WZ74	OTTHUMG00000022880	ENST00000160373.3:c.2179T>G	7.37:g.117424398A>C	ENSP00000160373:p.Ser727Ala	Somatic		WXS	Illumina HiSeq	Phase_IV	O43389|Q7LG11|Q9C0A5	Missense_Mutation	SNP	pfam_Cortactin-binding_p2_N,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.S727A	ENST00000160373.3	37	c.2179	CCDS5774.1	7	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	23.4|23.4	4.415111|4.415111	0.83449|0.83449	.|.	.|.	ENSG00000077063|ENSG00000077063	ENST00000446636|ENST00000160373	.|T	.|0.64618	.|-0.11	5.45|5.45	5.45|5.45	0.79879|0.79879	.|Ankyrin repeat-containing domain (4);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.66147|0.66147	0.2760|0.2760	N|N	0.13352|0.13352	0.335|0.335	0.46749|0.46749	D|D	0.999183|0.999183	.|D	.|0.76494	.|0.999	.|D	.|0.83275	.|0.996	T|T	0.72577|0.72577	-0.4251|-0.4251	5|10	.|0.72032	.|D	.|0.01	3.8394|3.8394	15.8142|15.8142	0.78586|0.78586	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|727	.|Q8WZ74	.|CTTB2_HUMAN	S|A	214|727	.|ENSP00000160373:S727A	.|ENSP00000160373:S727A	I|S	-|-	2|1	0|0	CTTNBP2|CTTNBP2	117211634|117211634	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	8.631000|8.631000	0.90991|0.90991	2.184000|2.184000	0.69523|0.69523	0.533000|0.533000	0.62120|0.62120	ATC|TCA	CTTNBP2	-	superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom		0.483	CTTNBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CTTNBP2	HGNC	protein_coding	OTTHUMT00000059201.4	A	NM_033427		117424398	-1	no_errors	ENST00000160373	ensembl	human	known	70_37	missense	SNP	1.000	C
CTTNBP2NL	55917	genome.wustl.edu	37	1	112998784	112998784	+	Missense_Mutation	SNP	G	G	C			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr1:112998784G>C	ENST00000271277.6	+	6	895	c.670G>C	c.(670-672)Gag>Cag	p.E224Q		NM_018704.2	NP_061174.1	Q9P2B4	CT2NL_HUMAN	CTTNBP2 N-terminal like	224					negative regulation of transmembrane transport (GO:0034763)|negative regulation of transporter activity (GO:0032410)|protein dephosphorylation (GO:0006470)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)	protein phosphatase 2A binding (GO:0051721)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	29		all_cancers(81;0.00064)|all_epithelial(167;0.000415)|all_lung(203;0.00045)|Lung NSC(69;0.000705)		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		GTTGGCAGCTGAGAGAAAGAG	0.507																																																	0													80.0	89.0	86.0					1																	112998784		2203	4300	6503	SO:0001583	missense	55917			AB037854	CCDS845.1	1p13.2	2008-02-05			ENSG00000143079	ENSG00000143079			25330	protein-coding gene	gene with protein product		615100				10718198	Standard	NM_018704		Approved	DKFZp547A023	uc001ebx.3	Q9P2B4	OTTHUMG00000011154	ENST00000271277.6:c.670G>C	1.37:g.112998784G>C	ENSP00000271277:p.Glu224Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	B3KMS5|Q96B40	Missense_Mutation	SNP	pfam_Cortactin-binding_p2_N	p.E224Q	ENST00000271277.6	37	c.670	CCDS845.1	1	.	.	.	.	.	.	.	.	.	.	G	18.96	3.733865	0.69189	.	.	ENSG00000143079	ENST00000271277;ENST00000441739	T;T	0.65178	-0.14;0.17	6.07	6.07	0.98685	.	0.043708	0.85682	D	0.000000	T	0.63896	0.2550	M	0.81112	2.525	0.58432	D	0.999999	D	0.59767	0.986	P	0.50659	0.647	T	0.68284	-0.5449	10	0.48119	T	0.1	-28.4728	11.8701	0.52515	0.1083:0.0:0.8917:0.0	.	224	Q9P2B4	CT2NL_HUMAN	Q	224	ENSP00000271277:E224Q;ENSP00000390976:E224Q	ENSP00000271277:E224Q	E	+	1	0	CTTNBP2NL	112800307	1.000000	0.71417	0.885000	0.34714	0.430000	0.31655	5.948000	0.70249	2.884000	0.98904	0.655000	0.94253	GAG	CTTNBP2NL	-	NULL		0.507	CTTNBP2NL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CTTNBP2NL	HGNC	protein_coding	OTTHUMT00000030686.1	G	NM_018704		112998784	+1	no_errors	ENST00000271277	ensembl	human	known	70_37	missense	SNP	0.998	C
CUBN	8029	genome.wustl.edu	37	10	17026127	17026127	+	Missense_Mutation	SNP	G	G	A	rs201587209		TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr10:17026127G>A	ENST00000377833.4	-	30	4567	c.4502C>T	c.(4501-4503)gCg>gTg	p.A1501V		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	1501	CUB 9. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cholesterol metabolic process (GO:0008203)|cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|tissue homeostasis (GO:0001894)|vitamin D metabolic process (GO:0042359)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|cobalamin binding (GO:0031419)|protein homodimerization activity (GO:0042803)|receptor activity (GO:0004872)|transporter activity (GO:0005215)			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	TTGCCATGACGCATTGAAGCC	0.473																																																	0													177.0	162.0	167.0					10																	17026127		2203	4300	6503	SO:0001583	missense	8029			AF034611	CCDS7113.1	10p12	2014-09-17			ENSG00000107611	ENSG00000107611			2548	protein-coding gene	gene with protein product		602997		MGA1		9572993, 9478979	Standard	NM_001081		Approved	IFCR, gp280	uc001ioo.3	O60494	OTTHUMG00000017741	ENST00000377833.4:c.4502C>T	10.37:g.17026127G>A	ENSP00000367064:p.Ala1501Val	Somatic		WXS	Illumina HiSeq	Phase_IV	B0YIZ4|Q5VTA6|Q96RU9	Missense_Mutation	SNP	pfam_CUB,pfam_EG-like_dom,pfam_EGF-like_Ca-bd,superfamily_CUB,superfamily_Growth_fac_rcpt,smart_EGF-like_Ca-bd,smart_EG-like_dom,smart_CUB,pfscan_CUB,pfscan_EG-like_dom	p.A1501V	ENST00000377833.4	37	c.4502	CCDS7113.1	10	.	.	.	.	.	.	.	.	.	.	G	13.87	2.367097	0.41902	.	.	ENSG00000107611	ENST00000377833;ENST00000438254	T;T	0.39056	1.37;1.1	5.96	-3.74	0.04385	CUB (5);	0.503596	0.16513	N	0.211170	T	0.32071	0.0817	M	0.71296	2.17	0.53688	D	0.99997	P	0.35077	0.483	B	0.29176	0.099	T	0.17592	-1.0364	10	0.19590	T	0.45	.	9.9422	0.41587	0.1844:0.0937:0.7219:0.0	.	1501	O60494	CUBN_HUMAN	V	1501;23	ENSP00000367064:A1501V;ENSP00000391830:A23V	ENSP00000367064:A1501V	A	-	2	0	CUBN	17066133	1.000000	0.71417	0.018000	0.16275	0.365000	0.29674	2.366000	0.44204	-0.963000	0.03600	-0.136000	0.14681	GCG	CUBN	-	pfam_CUB,superfamily_CUB,smart_CUB,pfscan_CUB		0.473	CUBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CUBN	HGNC	protein_coding	OTTHUMT00000047009.1	G	NM_001081		17026127	-1	no_errors	ENST00000377833	ensembl	human	known	70_37	missense	SNP	0.801	A
CUL1	8454	genome.wustl.edu	37	7	148483659	148483659	+	Missense_Mutation	SNP	G	G	A			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr7:148483659G>A	ENST00000325222.4	+	12	1594	c.1315G>A	c.(1315-1317)Gag>Aag	p.E439K	CUL1_ENST00000602748.1_Missense_Mutation_p.E439K|CUL1_ENST00000409469.1_Missense_Mutation_p.E439K	NM_003592.2	NP_003583.2	Q13616	CUL1_HUMAN	cullin 1	439					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|cell cycle arrest (GO:0007050)|cell proliferation (GO:0008283)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|intrinsic apoptotic signaling pathway (GO:0097193)|mitotic cell cycle (GO:0000278)|negative regulation of cell proliferation (GO:0008285)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein monoubiquitination (GO:0006513)|protein ubiquitination (GO:0016567)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|viral process (GO:0016032)	cullin-RING ubiquitin ligase complex (GO:0031461)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|Parkin-FBXW7-Cul1 ubiquitin ligase complex (GO:1990452)|SCF ubiquitin ligase complex (GO:0019005)				breast(2)|central_nervous_system(2)|endometrium(1)|kidney(5)|large_intestine(10)|liver(2)|lung(10)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	40	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00291)			GAACCCAGAGGAGGCAGAACT	0.378																																																	0													112.0	107.0	109.0					7																	148483659		2203	4300	6503	SO:0001583	missense	8454			U58087	CCDS34772.1	7q36.1	2011-05-24			ENSG00000055130	ENSG00000055130			2551	protein-coding gene	gene with protein product		603134				8681378	Standard	NM_003592		Approved		uc003wey.3	Q13616	OTTHUMG00000152776	ENST00000325222.4:c.1315G>A	7.37:g.148483659G>A	ENSP00000326804:p.Glu439Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	D3DWG3|O60719|Q08AL6|Q8IYW1	Missense_Mutation	SNP	pfam_Cullin_N,pfam_Cullin_neddylation_domain,superfamily_Cullin_repeat-like_dom,superfamily_Cullin_homology,smart_Cullin_homology,smart_Cullin_neddylation_domain,pfscan_Cullin_homology	p.E439K	ENST00000325222.4	37	c.1315	CCDS34772.1	7	.	.	.	.	.	.	.	.	.	.	G	36	5.658149	0.96734	.	.	ENSG00000055130	ENST00000409469;ENST00000325222;ENST00000543583;ENST00000433865	T;T	0.75477	-0.94;-0.94	5.18	5.18	0.71444	Cullin, N-terminal (1);Cullin homology (2);	0.048736	0.85682	D	0.000000	D	0.90686	0.7078	H	0.96175	3.78	0.80722	D	1	D;D	0.62365	0.991;0.991	D;D	0.69307	0.963;0.929	D	0.93664	0.6984	10	0.87932	D	0	-1.6956	18.7108	0.91656	0.0:0.0:1.0:0.0	.	366;439	E7EWR0;Q13616	.;CUL1_HUMAN	K	439;439;397;366	ENSP00000387160:E439K;ENSP00000326804:E439K	ENSP00000326804:E439K	E	+	1	0	CUL1	148114592	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	9.451000	0.97610	2.413000	0.81919	0.650000	0.86243	GAG	CUL1	-	pfam_Cullin_N,superfamily_Cullin_homology,pfscan_Cullin_homology		0.378	CUL1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	CUL1	HGNC	protein_coding	OTTHUMT00000467785.1	G	NM_003592		148483659	+1	no_errors	ENST00000325222	ensembl	human	known	70_37	missense	SNP	1.000	A
CUX2	23316	genome.wustl.edu	37	12	111758156	111758156	+	Silent	SNP	C	C	T	rs370447580		TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr12:111758156C>T	ENST00000261726.6	+	17	2497	c.2343C>T	c.(2341-2343)gaC>gaT	p.D781D		NM_015267.3	NP_056082.2	O14529	CUX2_HUMAN	cut-like homeobox 2	781					cellular response to organic substance (GO:0071310)|cognition (GO:0050890)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of gene expression (GO:0010628)|positive regulation of synapse assembly (GO:0051965)|short-term memory (GO:0007614)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding (GO:0043565)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|lung(24)|ovary(5)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	55						AGATCGGCGACGCCGGCTACT	0.726																																																	0								C		1,3793		0,1,1896	24.0	31.0	29.0		2343	-6.0	0.9	12		29	0,7866		0,0,3933	no	coding-synonymous	CUX2	NM_015267.3		0,1,5829	TT,TC,CC		0.0,0.0264,0.0086		781/1487	111758156	1,11659	1897	3933	5830	SO:0001819	synonymous_variant	23316			AB006631	CCDS41837.1	12q24.12	2011-06-20	2007-11-07	2007-11-07	ENSG00000111249	ENSG00000111249		"""Homeoboxes / CUT class"""	19347	protein-coding gene	gene with protein product		610648	"""cut-like 2 (Drosophila)"""	CUTL2			Standard	NM_015267		Approved	KIAA0293, CDP2	uc001tsa.2	O14529	OTTHUMG00000169546	ENST00000261726.6:c.2343C>T	12.37:g.111758156C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A7E2Y4	Silent	SNP	pfam_Hmoeo_CUT,pfam_Homeodomain,superfamily_Lambda_DNA-bd_dom,superfamily_Homeodomain-like,superfamily_Prefoldin,smart_Homeodomain,pfscan_Homeodomain,pfscan_Hmoeo_CUT	p.D781	ENST00000261726.6	37	c.2343	CCDS41837.1	12																																																																																			CUX2	-	NULL		0.726	CUX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CUX2	HGNC	protein_coding	OTTHUMT00000404765.1	C	NM_015267		111758156	+1	no_errors	ENST00000261726	ensembl	human	known	70_37	silent	SNP	0.899	T
CWC25	54883	genome.wustl.edu	37	17	36962572	36962572	+	Nonsense_Mutation	SNP	G	G	A	rs201865422		TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr17:36962572G>A	ENST00000225428.5	-	8	1276	c.979C>T	c.(979-981)Cga>Tga	p.R327*	CWC25_ENST00000536127.1_Nonsense_Mutation_p.R264*	NM_017748.3	NP_060218.1	Q9NXE8	CWC25_HUMAN	CWC25 spliceosome-associated protein homolog (S. cerevisiae)	327										central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(1)|lung(4)|upper_aerodigestive_tract(1)	14						GGAGCATGTCGCCTTTGGTAG	0.498																																																	0													202.0	185.0	191.0					17																	36962572		1888	4106	5994	SO:0001587	stop_gained	54883			AK000298	CCDS45663.1	17q12	2010-01-26	2010-01-26	2010-01-26		ENSG00000273559			25989	protein-coding gene	gene with protein product			"""coiled-coil domain containing 49"""	CCDC49		19941820	Standard	NM_017748		Approved	FLJ20291	uc002hqu.4	Q9NXE8		ENST00000225428.5:c.979C>T	17.37:g.36962572G>A	ENSP00000225428:p.Arg327*	Somatic		WXS	Illumina HiSeq	Phase_IV	A0JLM3|Q68DK5	Nonsense_Mutation	SNP	pfam_CWC25,pfam_CIR_N_dom	p.R327*	ENST00000225428.5	37	c.979	CCDS45663.1	17	.	.	.	.	.	.	.	.	.	.	G	33	5.276913	0.95459	.	.	ENSG00000108296	ENST00000225428;ENST00000536127	.	.	.	5.69	4.68	0.58851	.	0.398538	0.27664	N	0.018377	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.08837	T	0.75	.	12.0991	0.53772	0.0:0.0:0.8295:0.1705	.	.	.	.	X	327;264	.	ENSP00000225428:R327X	R	-	1	2	CWC25	34216098	1.000000	0.71417	0.998000	0.56505	0.242000	0.25591	1.818000	0.39012	2.696000	0.92011	0.655000	0.94253	CGA	CWC25	-	NULL		0.498	CWC25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CWC25	HGNC	protein_coding	OTTHUMT00000442186.6	G	NM_017748		36962572	-1	no_errors	ENST00000225428	ensembl	human	known	70_37	nonsense	SNP	1.000	A
CXorf23	256643	genome.wustl.edu	37	X	19973590	19973590	+	Missense_Mutation	SNP	G	G	T			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chrX:19973590G>T	ENST00000379682.4	-	4	1402	c.1369C>A	c.(1369-1371)Ctt>Att	p.L457I	CXorf23_ENST00000379687.3_Missense_Mutation_p.L457I|CXorf23_ENST00000356980.3_Missense_Mutation_p.L457I			A2AJT9	CX023_HUMAN	chromosome X open reading frame 23	457						mitochondrion (GO:0005739)				endometrium(2)|large_intestine(1)|lung(6)|skin(1)|urinary_tract(1)	11						GTTGAGTCAAGATGTTCAAAC	0.378																																																	0													163.0	138.0	147.0					X																	19973590		2203	4300	6503	SO:0001583	missense	256643			AL833278	CCDS14194.2	Xp22.13	2012-11-27			ENSG00000173681	ENSG00000173681			27413	protein-coding gene	gene with protein product						14702039	Standard	NM_198279		Approved		uc004czp.3	A2AJT9	OTTHUMG00000021226	ENST00000379682.4:c.1369C>A	X.37:g.19973590G>T	ENSP00000369004:p.Leu457Ile	Somatic		WXS	Illumina HiSeq	Phase_IV	A1A4E8|Q5VSM7|Q5VSN1|Q6ZS60|Q8N1W7	Missense_Mutation	SNP	NULL	p.L457I	ENST00000379682.4	37	c.1369		X	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.35|15.35	2.808641|2.808641	0.50421|0.50421	.|.	.|.	ENSG00000173681|ENSG00000173681	ENST00000379687;ENST00000379682;ENST00000356980;ENST00000539038|ENST00000340625	T;T;T|.	0.12984|.	2.63;2.63;2.63|.	5.88|5.88	5.01|5.01	0.66863|0.66863	.|.	.|.	.|.	.|.	.|.	T|T	0.25680|0.25680	0.0625|0.0625	N|N	0.21240|0.21240	0.645|0.645	0.28786|0.28786	N|N	0.899559|0.899559	P;D;D|.	0.61697|.	0.687;0.99;0.99|.	B;P;P|.	0.57152|.	0.391;0.814;0.814|.	T|T	0.11916|0.11916	-1.0568|-1.0568	8|5	.|.	.|.	.|.	.|.	6.1779|6.1779	0.20455|0.20455	0.0929:0.0:0.6553:0.2518|0.0929:0.0:0.6553:0.2518	.|.	168;457;457|.	B7ZLM9;A2AJT9-2;A2AJT9|.	.;.;CX023_HUMAN|.	I|Y	457;457;457;345|65	ENSP00000369009:L457I;ENSP00000369004:L457I;ENSP00000349470:L457I|.	.|.	L|S	-|-	1|2	0|0	CXorf23|CXorf23	19883511|19883511	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	2.720000|2.720000	0.47252|0.47252	2.474000|2.474000	0.83562|0.83562	0.600000|0.600000	0.82982|0.82982	CTT|TCT	CXorf23	-	NULL		0.378	CXorf23-006	NOVEL	basic	protein_coding	CXorf23	HGNC	protein_coding	OTTHUMT00000055991.2	G	NM_198279		19973590	-1	no_errors	ENST00000379687	ensembl	human	known	70_37	missense	SNP	1.000	T
CXorf30	645090	genome.wustl.edu	37	X	36371742	36371742	+	Missense_Mutation	SNP	G	G	A			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chrX:36371742G>A	ENST00000378657.4	+	14	1783	c.1135G>A	c.(1135-1137)Gaa>Aaa	p.E379K		NM_001098843.4	NP_001092313.2	A6PW82	CX030_HUMAN	chromosome X open reading frame 30	379										breast(1)|lung(2)|stomach(1)	4						AGATCTGACAGAAGTTTTAGT	0.348																																																	0													119.0	90.0	99.0					X																	36371742		692	1591	2283	SO:0001583	missense	645090				CCDS55396.1	Xp21.1	2014-08-07			ENSG00000205081	ENSG00000205081			27298	protein-coding gene	gene with protein product							Standard	NM_001098843		Approved		uc011mkc.3	A6PW82	OTTHUMG00000021353	ENST00000378657.4:c.1135G>A	X.37:g.36371742G>A	ENSP00000367926:p.Glu379Lys	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	NULL	p.E379K	ENST00000378657.4	37	c.1135	CCDS55396.1	X	.	.	.	.	.	.	.	.	.	.	G	2.276	-0.365909	0.05069	.	.	ENSG00000205081	ENST00000378653;ENST00000378657	T;T	0.21543	2.0;2.0	4.41	2.64	0.31445	.	0.491386	0.21659	N	0.071048	T	0.06826	0.0174	N	0.03608	-0.345	0.09310	N	1	B	0.13594	0.008	B	0.12156	0.007	T	0.40590	-0.9555	10	0.06099	T	0.92	-9.8948	6.5347	0.22346	0.2285:0.0:0.7715:0.0	.	379	A6PW82	CX030_HUMAN	K	664;379	ENSP00000367922:E664K;ENSP00000367926:E379K	ENSP00000367922:E664K	E	+	1	0	CXorf30	36281663	0.004000	0.15560	0.005000	0.12908	0.002000	0.02628	0.110000	0.15437	0.436000	0.26393	-0.269000	0.10298	GAA	CXorf30	-	NULL		0.348	CXorf30-201	KNOWN	basic|appris_principal|CCDS	protein_coding	CXorf30	HGNC	protein_coding		G	NP_001092313		36371742	+1	no_errors	ENST00000378657	ensembl	human	known	70_37	missense	SNP	0.010	A
CXXC1P1	392459	genome.wustl.edu	37	X	47583417	47583417	+	RNA	SNP	T	T	C			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chrX:47583417T>C	ENST00000483225.1	+	0	687					NR_033924.1				CXXC finger protein 1 pseudogene 1																		ATGGGTGGGGTCCATGTGGTG	0.562																																																	0																																												392459			AK094108		Xp11.3	2011-12-01	2011-12-01	2010-07-02	ENSG00000187893	ENSG00000187893			27864	pseudogene	pseudogene			"""chromosome X open reading frame 25"", ""non-protein coding RNA 236"", ""CXXC finger 1 pseudogene 1"""	CXorf25, NCRNA00236		14702039	Standard	NR_033924		Approved	FLJ36789	uc004dio.1		OTTHUMG00000021450		X.37:g.47583417T>C		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000483225.1	37	NULL		X																																																																																			CXXC1P1	-	-		0.562	CXXC1P1-001	KNOWN	basic	processed_transcript	CXXC1P1	HGNC	pseudogene	OTTHUMT00000056433.2	T			47583417	+1	no_errors	ENST00000483225	ensembl	human	known	70_37	rna	SNP	0.003	C
PRR32	100130613	genome.wustl.edu	37	X	125955255	125955255	+	Missense_Mutation	SNP	T	T	C			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chrX:125955255T>C	ENST00000371125.3	+	2	714	c.634T>C	c.(634-636)Tct>Cct	p.S212P		NM_001122716.1	NP_001116188.1	B1ATL7	PRR32_HUMAN		212																	GGCTCATGTTTCTTTCCCACT	0.522																																																	0													83.0	71.0	74.0					X																	125955255		692	1591	2283	SO:0001583	missense	100130613																														ENST00000371125.3:c.634T>C	X.37:g.125955255T>C	ENSP00000360166:p.Ser212Pro	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	NULL	p.S212P	ENST00000371125.3	37	c.634	CCDS48163.1	X	.	.	.	.	.	.	.	.	.	.	T	12.88	2.071866	0.36566	.	.	ENSG00000183631	ENST00000371125	T	0.39997	1.05	4.02	2.82	0.32997	.	0.251492	0.21127	N	0.079709	T	0.47395	0.1443	L	0.34521	1.04	0.30032	N	0.813422	D	0.76494	0.999	D	0.72075	0.976	T	0.43940	-0.9360	10	0.87932	D	0	-11.8448	6.6064	0.22727	0.0:0.0:0.2433:0.7567	.	212	B1ATL7	CX064_HUMAN	P	212	ENSP00000360166:S212P	ENSP00000360166:S212P	S	+	1	0	CXorf64	125782936	0.996000	0.38824	0.910000	0.35882	0.261000	0.26267	1.335000	0.33839	0.678000	0.31325	0.486000	0.48141	TCT	CXorf64	-	NULL		0.522	CXorf64-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CXorf64	HGNC	protein_coding	OTTHUMT00000058188.1	T			125955255	+1	no_errors	ENST00000371125	ensembl	human	known	70_37	missense	SNP	0.892	C
CYFIP1	23191	genome.wustl.edu	37	15	22945110	22945110	+	Missense_Mutation	SNP	C	C	T	rs374831208		TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr15:22945110C>T	ENST00000313077.7	+	12	1306	c.1181C>T	c.(1180-1182)gCg>gTg	p.A394V	CYFIP1_ENST00000560848.1_Missense_Mutation_p.A394V	NM_014608.2	NP_055423.1			cytoplasmic FMR1 interacting protein 1											endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(1)|lung(14)|ovary(4)|pancreas(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	40		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;2.22e-06)|Epithelial(43;1.49e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00101)		TTCGACCTGGCGCTGCAGGGC	0.701																																																	0								C	VAL/ALA	1,4401		0,1,2200	18.0	19.0	19.0		1181	4.8	1.0	15		19	0,8594		0,0,4297	no	missense	CYFIP1	NM_014608.2	64	0,1,6497	TT,TC,CC		0.0,0.0227,0.0077	benign	394/1254	22945110	1,12995	2201	4297	6498	SO:0001583	missense	23191			D38549	CCDS73695.1, CCDS73696.1	15q11	2008-07-18			ENSG00000068793	ENSG00000273749			13759	protein-coding gene	gene with protein product	"""selective hybridizing clone"", ""cytoplasmic FMRP interacting protein 1"""	606322				11438699	Standard	XM_005272543		Approved	KIAA0068, P140SRA-1, SHYC	uc001yus.3	Q7L576	OTTHUMG00000129100	ENST00000313077.7:c.1181C>T	15.37:g.22945110C>T	ENSP00000324549:p.Ala394Val	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_Cytoplasmic_FMR1-int,pirsf_Cytoplasmic_FMR1-int_sub,prints_Cytoplasmic_FMR1-int	p.A394V	ENST00000313077.7	37	c.1181	CCDS10009.1	15	.	.	.	.	.	.	.	.	.	.	C	22.0	4.232359	0.79688	2.27E-4	0.0	ENSG00000068793	ENST00000313077;ENST00000412127	T	0.21361	2.01	4.78	4.78	0.61160	.	0.242826	0.36002	N	0.002854	T	0.20129	0.0484	L	0.52011	1.625	0.80722	D	1	P;B	0.48503	0.911;0.033	B;B	0.38378	0.272;0.028	T	0.07195	-1.0785	10	0.17832	T	0.49	-10.5851	18.2422	0.89971	0.0:1.0:0.0:0.0	.	422;394	E7EQ04;Q7L576	.;CYFP1_HUMAN	V	394;422	ENSP00000324549:A394V	ENSP00000324549:A394V	A	+	2	0	CYFIP1	20496551	1.000000	0.71417	0.983000	0.44433	0.939000	0.58152	7.641000	0.83368	2.384000	0.81235	0.456000	0.33151	GCG	CYFIP1	-	pfam_Cytoplasmic_FMR1-int,pirsf_Cytoplasmic_FMR1-int_sub		0.701	CYFIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYFIP1	HGNC	protein_coding	OTTHUMT00000251136.2	C	NM_014608		22945110	+1	no_errors	ENST00000313077	ensembl	human	known	70_37	missense	SNP	1.000	T
CYLD	1540	genome.wustl.edu	37	16	50813848	50813848	+	Missense_Mutation	SNP	G	G	C			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr16:50813848G>C	ENST00000427738.3	+	8	1616	c.1411G>C	c.(1411-1413)Gaa>Caa	p.E471Q	CYLD_ENST00000398568.2_Missense_Mutation_p.E468Q|CYLD_ENST00000568704.2_Intron|CYLD_ENST00000540145.1_Missense_Mutation_p.E471Q|CYLD_ENST00000311559.9_Missense_Mutation_p.E471Q|CYLD_ENST00000569418.1_Missense_Mutation_p.E468Q|CYLD_ENST00000566206.1_Missense_Mutation_p.E468Q|CYLD_ENST00000564326.1_Missense_Mutation_p.E468Q			Q9NQC7	CYLD_HUMAN	cylindromatosis (turban tumor syndrome)	471	Interaction with IKBKG/NEMO.|Interaction with TRIP.				cell cycle (GO:0007049)|innate immune response (GO:0045087)|necroptotic process (GO:0070266)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of type I interferon production (GO:0032480)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|protein K63-linked deubiquitination (GO:0070536)|regulation of intrinsic apoptotic signaling pathway (GO:2001242)|regulation of microtubule cytoskeleton organization (GO:0070507)|regulation of mitotic cell cycle (GO:0007346)|ubiquitin-dependent protein catabolic process (GO:0006511)|Wnt signaling pathway (GO:0016055)	centrosome (GO:0005813)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|microtubule (GO:0005874)|nucleus (GO:0005634)	Lys63-specific deubiquitinase activity (GO:0061578)|proline-rich region binding (GO:0070064)|protein kinase binding (GO:0019901)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(9)|lung(17)|pancreas(1)|skin(22)|upper_aerodigestive_tract(1)	62		all_cancers(37;0.0156)				ACATGGTCTAGAAGTGGGCTC	0.527			"""Mis, N, F, S"""		cylindroma	cylindroma			Multiple Trichoepithelioma, Familial;Familial Cylindromatosis																														yes	Rec	yes	Familial cylindromatosis	16	16q12-q13	1540	familial cylindromatosis gene		E	0													85.0	85.0	85.0					16																	50813848		1954	4141	6095	SO:0001583	missense	1540	Familial Cancer Database	;FADC, Turban Tumor syndrome, Epithelioma Adenoides Cysticum of Brooke, Hereditary Multiple Benign Cystic Epithelioma, Dermal Eccrine Cylindromatosis, Brooke-Spiegler s.	AB020656	CCDS42164.1, CCDS45482.1	16q12-q13	2014-09-17							2584	protein-coding gene	gene with protein product	"""ubiquitin specific peptidase like 2"""	605018		CYLD1		7493027	Standard	NM_015247		Approved	KIAA0849, USPL2	uc002egq.1	Q9NQC7		ENST00000427738.3:c.1411G>C	16.37:g.50813848G>C	ENSP00000392025:p.Glu471Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	O94934|Q7L3N6|Q96EH0|Q9NZX9	Missense_Mutation	SNP	pfam_CAP-Gly_domain,pfam_Peptidase_C19,superfamily_CAP-Gly_domain,pfscan_CAP-Gly_domain,pfscan_Peptidase_C19	p.E471Q	ENST00000427738.3	37	c.1411	CCDS45482.1	16	.	.	.	.	.	.	.	.	.	.	G	26.2	4.717657	0.89205	.	.	ENSG00000083799	ENST00000540145;ENST00000311559;ENST00000427738;ENST00000398568	T;T;T	0.74947	-0.89;-0.89;-0.89	5.6	5.6	0.85130	Cytoskeleton-associated protein, Gly-rich domain (2);	0.000000	0.85682	D	0.000000	T	0.80088	0.4559	L	0.27053	0.805	0.80722	D	1	D;D;D;D	0.71674	0.997;0.998;0.998;0.997	D;D;D;D	0.80764	0.986;0.994;0.994;0.986	T	0.79867	-0.1622	10	0.44086	T	0.13	-28.6272	19.6251	0.95674	0.0:0.0:1.0:0.0	.	468;471;468;471	A8KAB0;F5H2R7;Q9NQC7-2;Q9NQC7	.;.;.;CYLD_HUMAN	Q	471;471;468;468	ENSP00000445447:E471Q;ENSP00000308928:E471Q;ENSP00000381574:E468Q	ENSP00000308928:E471Q	E	+	1	0	CYLD	49371349	1.000000	0.71417	0.998000	0.56505	0.810000	0.45777	9.240000	0.95396	2.636000	0.89361	0.655000	0.94253	GAA	CYLD	-	superfamily_CAP-Gly_domain		0.527	CYLD-010	KNOWN	basic|CCDS	protein_coding	CYLD	HGNC	protein_coding	OTTHUMT00000422998.2	G			50813848	+1	no_errors	ENST00000311559	ensembl	human	known	70_37	missense	SNP	1.000	C
LOC440602	440602	genome.wustl.edu	37	1	111033838	111033838	+	lincRNA	SNP	G	G	A	rs539174111		TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr1:111033838G>A	ENST00000457402.1	-	0	0				CYMP_ENST00000420853.1_RNA																							ACACACACACGCACATAGATG	0.517													G|||	1	0.000199681	0.0	0.0	5008	,	,		22722	0.0		0.0	False		,,,				2504	0.001																0																																												643160																															1.37:g.111033838G>A		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000457402.1	37	NULL		1																																																																																			CYMP	-	-		0.517	RP11-470L19.2-001	KNOWN	basic	lincRNA	CYMP	HGNC	lincRNA	OTTHUMT00000059079.1	G			111033838	+1	no_errors	ENST00000420853	ensembl	human	known	70_37	rna	SNP	0.000	A
CYP2C18	1562	genome.wustl.edu	37	10	96447906	96447906	+	Missense_Mutation	SNP	G	G	C			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr10:96447906G>C	ENST00000285979.6	+	3	555	c.356G>C	c.(355-357)aGa>aCa	p.R119T	CYP2C18_ENST00000339022.5_Missense_Mutation_p.R119T	NM_000772.2	NP_000763.1	P33260	CP2CI_HUMAN	cytochrome P450, family 2, subfamily C, polypeptide 18	119					small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxygen binding (GO:0019825)			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(11)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	26		Colorectal(252;0.09)		all cancers(201;2.8e-06)|KIRC - Kidney renal clear cell carcinoma(50;0.0646)|Kidney(138;0.0805)	Aminophenazone(DB01424)|Antipyrine(DB01435)|Buprenorphine(DB00921)|Clobazam(DB00349)|Clotiazepam(DB01559)|Cyclophosphamide(DB00531)|Dapsone(DB00250)|Desipramine(DB01151)|Diazepam(DB00829)|Diclofenac(DB00586)|Diphenhydramine(DB01075)|Ifosfamide(DB01181)|Imipramine(DB00458)|Lansoprazole(DB00448)|Lidocaine(DB00281)|Methadone(DB00333)|Omeprazole(DB00338)|Pegvisomant(DB00082)|Perphenazine(DB00850)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Propofol(DB00818)|Tolbutamide(DB01124)|Tretinoin(DB00755)|Troleandomycin(DB01361)|Valproic Acid(DB00313)|Verapamil(DB00661)|Vilazodone(DB06684)|Warfarin(DB00682)	AATGGAAAGAGATGGAAGGAG	0.522																																																	0													104.0	94.0	98.0					10																	96447906		2203	4300	6503	SO:0001583	missense	1562			M61853	CCDS7435.1, CCDS44460.1	10q24	2003-11-12	2003-01-14		ENSG00000108242	ENSG00000108242		"""Cytochrome P450s"""	2620	protein-coding gene	gene with protein product		601131	"""cytochrome P450, subfamily IIC (mephenytoin 4-hydroxylase), polypeptide 18"""	CYP2C17		1896026, 2009263	Standard	NM_000772		Approved	P450IIC17, CPCI, CYP2C		P33260	OTTHUMG00000018796	ENST00000285979.6:c.356G>C	10.37:g.96447906G>C	ENSP00000285979:p.Arg119Thr	Somatic		WXS	Illumina HiSeq	Phase_IV	B2R8K2|Q16703|Q16751|Q4VAT5|Q6GRG1	Missense_Mutation	SNP	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_B	p.R119T	ENST00000285979.6	37	c.356	CCDS7435.1	10	.	.	.	.	.	.	.	.	.	.	g	7.238	0.600723	0.13939	.	.	ENSG00000108242	ENST00000339022;ENST00000285979	T;T	0.69306	-0.39;-0.39	4.63	-9.25	0.00666	.	0.429079	0.22740	U	0.056218	T	0.35451	0.0932	L	0.28054	0.825	0.09310	N	1	B;B	0.29886	0.008;0.26	B;B	0.17979	0.008;0.02	T	0.10730	-1.0617	10	0.30078	T	0.28	.	4.8187	0.13379	0.2222:0.4683:0.2195:0.0901	.	119;119	Q4VAT5;P33260	.;CP2CI_HUMAN	T	119	ENSP00000341293:R119T;ENSP00000285979:R119T	ENSP00000285979:R119T	R	+	2	0	CYP2C18	96437896	0.000000	0.05858	0.020000	0.16555	0.736000	0.42039	-2.005000	0.01460	-1.320000	0.02283	0.306000	0.20318	AGA	CYP2C18	-	pfam_Cyt_P450,superfamily_Cyt_P450		0.522	CYP2C18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP2C18	HGNC	protein_coding	OTTHUMT00000049486.1	G	NM_000772		96447906	+1	no_errors	ENST00000285979	ensembl	human	known	70_37	missense	SNP	0.000	C
CYP2D6	1565	genome.wustl.edu	37	22	42525885	42525885	+	Silent	SNP	G	G	A			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr22:42525885G>A	ENST00000360608.5	-	2	321	c.207C>T	c.(205-207)ttC>ttT	p.F69F	CYP2D6_ENST00000359033.4_Silent_p.F69F|NDUFA6-AS1_ENST00000416037.2_RNA|NDUFA6-AS1_ENST00000608491.1_RNA|NDUFA6-AS1_ENST00000608288.1_RNA|NDUFA6-AS1_ENST00000439129.1_RNA|CYP2D6_ENST00000389970.3_Silent_p.F69F	NM_000106.5	NP_000097	P10635	CP2D6_HUMAN	cytochrome P450, family 2, subfamily D, polypeptide 6	69					alkaloid catabolic process (GO:0009822)|alkaloid metabolic process (GO:0009820)|coumarin metabolic process (GO:0009804)|drug catabolic process (GO:0042737)|drug metabolic process (GO:0017144)|heterocycle metabolic process (GO:0046483)|isoquinoline alkaloid metabolic process (GO:0033076)|monoterpenoid metabolic process (GO:0016098)|negative regulation of binding (GO:0051100)|negative regulation of cellular organofluorine metabolic process (GO:0090350)|oxidation-reduction process (GO:0055114)|oxidative demethylation (GO:0070989)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|mitochondrion (GO:0005739)	aromatase activity (GO:0070330)|drug binding (GO:0008144)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity (GO:0016491)			NS(1)|breast(2)|endometrium(1)|large_intestine(2)|lung(4)|prostate(7)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	21					Abiraterone(DB05812)|Acebutolol(DB01193)|Acetaminophen(DB00316)|Ajmaline(DB01426)|Almotriptan(DB00918)|Alogliptin(DB06203)|Alprenolol(DB00866)|Aminophenazone(DB01424)|Amiodarone(DB01118)|Amitriptyline(DB00321)|Amlodipine(DB00381)|Amodiaquine(DB00613)|Amoxapine(DB00543)|Amphetamine(DB00182)|Amprenavir(DB00701)|Amsacrine(DB00276)|Antipyrine(DB01435)|Aprindine(DB01429)|Arformoterol(DB01274)|Aripiprazole(DB01238)|Artemether(DB06697)|Asenapine(DB06216)|Astemizole(DB00637)|Atomoxetine(DB00289)|Atorvastatin(DB01076)|Azelastine(DB00972)|Benzatropine(DB00245)|Benzyl alcohol(DB06770)|Bepridil(DB01244)|Betaxolol(DB00195)|Bicalutamide(DB01128)|Biperiden(DB00810)|Bisoprolol(DB00612)|Bortezomib(DB00188)|Brompheniramine(DB00835)|Bupivacaine(DB00297)|Buprenorphine(DB00921)|Bupropion(DB01156)|Buspirone(DB00490)|Caffeine(DB00201)|Captopril(DB01197)|Carbinoxamine(DB00748)|Carteolol(DB00521)|Carvedilol(DB01136)|Celecoxib(DB00482)|Cephalexin(DB00567)|Cevimeline(DB00185)|Chlordiazepoxide(DB00475)|Chloroquine(DB00608)|Chlorphenamine(DB01114)|Chlorpromazine(DB00477)|Chlorzoxazone(DB00356)|Cholecalciferol(DB00169)|Ciclesonide(DB01410)|Cilostazol(DB01166)|Cimetidine(DB00501)|Cinacalcet(DB01012)|Cinnarizine(DB00568)|Cisapride(DB00604)|Citalopram(DB00215)|Clemastine(DB00283)|Clevidipine(DB04920)|Clomipramine(DB01242)|Clonidine(DB00575)|Clotrimazole(DB00257)|Clozapine(DB00363)|Cocaine(DB00907)|Codeine(DB00318)|Cyclobenzaprine(DB00924)|Cyclophosphamide(DB00531)|Cyclosporine(DB00091)|Dapagliflozin(DB06292)|Darifenacin(DB00496)|Debrisoquin(DB04840)|Delavirdine(DB00705)|Desipramine(DB01151)|Desloratadine(DB00967)|Dexamethasone(DB01234)|Dexfenfluramine(DB01191)|Dexmedetomidine(DB00633)|Dexmethylphenidate(DB06701)|Dextroamphetamine(DB01576)|Dextromethorphan(DB00514)|Dextropropoxyphene(DB00647)|Dihydrocodeine(DB01551)|Diltiazem(DB00343)|Dimethyl sulfoxide(DB01093)|Diphenhydramine(DB01075)|Dolasetron(DB00757)|Domperidone(DB01184)|Donepezil(DB00843)|Dopamine(DB00988)|Doxazosin(DB00590)|Doxepin(DB01142)|Doxorubicin(DB00997)|Dronedarone(DB04855)|Duloxetine(DB00476)|Efavirenz(DB00625)|Eletriptan(DB00216)|Encainide(DB01228)|Enzalutamide(DB08899)|Epinastine(DB00751)|Erlotinib(DB00530)|Escitalopram(DB01175)|Ethylmorphine(DB01466)|Etoricoxib(DB01628)|Felodipine(DB01023)|Fesoterodine(DB06702)|Fexofenadine(DB00950)|Fingolimod(DB08868)|Flecainide(DB01195)|Flunarizine(DB04841)|Fluoxetine(DB00472)|Fluphenazine(DB00623)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Formoterol(DB00983)|Galantamine(DB00674)|Gefitinib(DB00317)|Glutethimide(DB01437)|Granisetron(DB00889)|Halofantrine(DB01218)|Haloperidol(DB00502)|Halothane(DB01159)|Histamine Phosphate(DB00667)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Hydroxychloroquine(DB01611)|Hydroxyurea(DB01005)|Hydroxyzine(DB00557)|Idarubicin(DB01177)|Iloperidone(DB04946)|Imatinib(DB00619)|Imipramine(DB00458)|Indinavir(DB00224)|Ipratropium bromide(DB00332)|Irbesartan(DB01029)|Isoniazid(DB00951)|Itraconazole(DB01167)|Ketoconazole(DB01026)|L-DOPA(DB01235)|Labetalol(DB00598)|Lansoprazole(DB00448)|Lercanidipine(DB00528)|Levomilnacipran(DB08918)|Lidocaine(DB00281)|Lisuride(DB00589)|Lomustine(DB01206)|Loperamide(DB00836)|Lopinavir(DB01601)|Loratadine(DB00455)|Lorcaserin(DB04871)|Lovastatin(DB00227)|Lumefantrine(DB06708)|Maprotiline(DB00934)|Mefloquine(DB00358)|Mepyramine(DB06691)|Mequitazine(DB01071)|Mesoridazine(DB00933)|Methadone(DB00333)|Methamphetamine(DB01577)|Methazolamide(DB00703)|Methimazole(DB00763)|Methotrimeprazine(DB01403)|Methoxyflurane(DB01028)|Methylnaltrexone(DB06800)|Methylphenidate(DB00422)|Methyprylon(DB01107)|Metoclopramide(DB01233)|Metoprolol(DB00264)|Mexiletine(DB00379)|Mianserin(DB06148)|Miconazole(DB01110)|Midodrine(DB00211)|Mifepristone(DB00834)|Minaprine(DB00805)|Mirabegron(DB08893)|Mirtazapine(DB00370)|Moclobemide(DB01171)|Morphine(DB00295)|Nateglinide(DB00731)|Nebivolol(DB04861)|Nefazodone(DB01149)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Niacin(DB00627)|Nicardipine(DB00622)|Nicergoline(DB00699)|Nicotine(DB00184)|Nifedipine(DB01115)|Nilotinib(DB04868)|Nitrofural(DB00336)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Omeprazole(DB00338)|Ondansetron(DB00904)|Oxamniquine(DB01096)|Oxprenolol(DB01580)|Oxybutynin(DB01062)|Oxycodone(DB00497)|Oxymorphone(DB01192)|Paliperidone(DB01267)|Palonosetron(DB00377)|Paroxetine(DB00715)|Pazopanib(DB06589)|Pentamidine(DB00738)|Pergolide(DB01186)|Perhexiline(DB01074)|Perphenazine(DB00850)|Pethidine(DB00454)|Phenformin(DB00914)|Phentermine(DB00191)|Pimozide(DB01100)|Pindolol(DB00960)|Pioglitazone(DB01132)|Piperazine(DB00592)|Pipotiazine(DB01621)|Ponatinib(DB08901)|Pravastatin(DB00175)|Praziquantel(DB01058)|Primaquine(DB01087)|Procainamide(DB01035)|Prochlorperazine(DB00433)|Progesterone(DB00396)|Proguanil(DB01131)|Promethazine(DB01069)|Propafenone(DB01182)|Propofol(DB00818)|Propranolol(DB00571)|Protriptyline(DB00344)|Pseudoephedrine(DB00852)|Pyrimethamine(DB00205)|Quetiapine(DB01224)|Quinidine(DB00908)|Quinine(DB00468)|Rabeprazole(DB01129)|Ranitidine(DB00863)|Ranolazine(DB00243)|Reboxetine(DB00234)|Remoxipride(DB00409)|Rifapentine(DB01201)|Risperidone(DB00734)|Ritonavir(DB00503)|Rivastigmine(DB00989)|Ropinirole(DB00268)|Ropivacaine(DB00296)|Rosiglitazone(DB00412)|Rotigotine(DB05271)|Saquinavir(DB01232)|Selegiline(DB01037)|Sertindole(DB06144)|Sertraline(DB01104)|Sildenafil(DB00203)|Simvastatin(DB00641)|Sorafenib(DB00398)|Sulfanilamide(DB00259)|Sulfaphenazole(DB06729)|Tamoxifen(DB00675)|Tamsulosin(DB00706)|Tapentadol(DB06204)|Telithromycin(DB00976)|Temsirolimus(DB06287)|Terbinafine(DB00857)|Tetrabenazine(DB04844)|Theophylline(DB00277)|Thioridazine(DB00679)|Thiothixene(DB01623)|Ticlopidine(DB00208)|Timolol(DB00373)|Tiotropium(DB01409)|Tipranavir(DB00932)|Tolterodine(DB01036)|Trabectedin(DB05109)|Tramadol(DB00193)|Tranylcypromine(DB00752)|Trazodone(DB00656)|Trimipramine(DB00726)|Tripelennamine(DB00792)|Triprolidine(DB00427)|Trospium(DB00209)|Vemurafenib(DB08881)|Venlafaxine(DB00285)|Verapamil(DB00661)|Vilazodone(DB06684)|Vinblastine(DB00570)|Vinorelbine(DB00361)|Yohimbine(DB01392)|Zafirlukast(DB00549)|Zalcitabine(DB00943)|Ziprasidone(DB00246)|Zolpidem(DB00425)	GCTGCAGGCTGAACACGTCCC	0.687																																																	0													6.0	8.0	7.0					22																	42525885		1984	3939	5923	SO:0001819	synonymous_variant	1565			M20403	CCDS33657.1, CCDS46721.1	22q13.1	2014-09-17	2003-01-14		ENSG00000100197	ENSG00000100197		"""Cytochrome P450s"""	2625	protein-coding gene	gene with protein product		124030	"""cytochrome P450, subfamily IID (debrisoquine, sparteine, etc., -metabolizing), polypeptide 6"", ""cytochrome P450, family 2, subfamily D, polypeptide 7 pseudogene 2"", ""cytochrome P450, subfamily II (debrisoquine, sparteine, etc., -metabolising), polypeptide 7 pseudogene 2"", ""cytochrome P450, family 2, subfamily D, polypeptide 8 pseudogene 2"", ""cytochrome P450, subfamily IID (debrisoquine, sparteine, etc., -metabolising), polypeptide 8 pseudogene 2"""	CYP2DL1, CYP2D7P2, CYP2D7BP, CYP2D8P2, CYP2D7AP		8449513	Standard	NM_000106		Approved	CPD6, P450-DB1, CYP2D, P450C2D	uc003bce.3	P10635	OTTHUMG00000150918	ENST00000360608.5:c.207C>T	22.37:g.42525885G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q16752|Q2XND6|Q2XND7|Q2XNE0|Q6B012|Q6NXU8	Silent	SNP	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-I_CYP2D-like,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_B	p.F69	ENST00000360608.5	37	c.207	CCDS46721.1	22																																																																																			CYP2D6	-	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV		0.687	CYP2D6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CYP2D6	HGNC	protein_coding	OTTHUMT00000320525.1	G			42525885	-1	no_errors	ENST00000360608	ensembl	human	known	70_37	silent	SNP	1.000	A
CYP4F24P	388514	genome.wustl.edu	37	19	15890551	15890551	+	IGR	SNP	C	C	G			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr19:15890551C>G								LLNLR-249E10.1 (8913 upstream) : OR10H5 (14209 downstream)																							AAAACCATTTCTGTTTTGGGG	0.587																																																	0																																										SO:0001628	intergenic_variant	388514																															19.37:g.15890551C>G		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL		37	NULL		19																																																																																			CYP4F24P	-	-	0	0.587					CYP4F24P	HGNC			C			15890551	-1	no_errors	ENST00000587443	ensembl	human	known	70_37	rna	SNP	0.066	G
CYP7B1	9420	genome.wustl.edu	37	8	65527718	65527718	+	Missense_Mutation	SNP	G	G	A			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr8:65527718G>A	ENST00000310193.3	-	4	1095	c.922C>T	c.(922-924)Ctt>Ttt	p.L308F	CYP7B1_ENST00000523954.1_5'UTR	NM_004820.3	NP_004811.1	O75881	CP7B1_HUMAN	cytochrome P450, family 7, subfamily B, polypeptide 1	308					bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cell death (GO:0008219)|cholesterol metabolic process (GO:0008203)|negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|positive regulation of epithelial cell proliferation (GO:0050679)|prostate gland epithelium morphogenesis (GO:0060740)|small molecule metabolic process (GO:0044281)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	25-hydroxycholesterol 7alpha-hydroxylase activity (GO:0033783)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxysterol 7-alpha-hydroxylase activity (GO:0008396)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(11)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28		all_cancers(86;0.217)|Lung NSC(129;0.0521)|all_lung(136;0.0906)|all_epithelial(80;0.215)				TGCCGCAGAAGATAATACATT	0.463																																																	0													93.0	86.0	88.0					8																	65527718		2203	4300	6503	SO:0001583	missense	9420			AF029403	CCDS6180.1	8q21.3	2008-07-04	2003-01-14		ENSG00000172817	ENSG00000172817		"""Cytochrome P450s"""	2652	protein-coding gene	gene with protein product		603711	"""cytochrome P450, subfamily VIIB (oxysterol 7 alpha-hydroxylase), polypeptide 1"", ""spastic paraplegia 5A (autosomal recessive)"""	SPG5A		9802883, 18252231	Standard	NM_004820		Approved		uc003xvj.2	O75881	OTTHUMG00000164387	ENST00000310193.3:c.922C>T	8.37:g.65527718G>A	ENSP00000310721:p.Leu308Phe	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RN07|Q9UNF5	Missense_Mutation	SNP	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_E_grp-I,prints_Cyt_P450	p.L308F	ENST00000310193.3	37	c.922	CCDS6180.1	8	.	.	.	.	.	.	.	.	.	.	G	16.20	3.057179	0.55325	.	.	ENSG00000172817	ENST00000310193	D	0.94330	-3.4	5.93	1.88	0.25563	.	0.233701	0.45126	D	0.000388	D	0.95850	0.8649	M	0.92784	3.345	0.37850	D	0.929357	P	0.49358	0.923	P	0.52672	0.706	D	0.95484	0.8563	10	0.66056	D	0.02	-7.8658	11.349	0.49577	0.0:0.2271:0.5377:0.2353	.	308	O75881	CP7B1_HUMAN	F	308	ENSP00000310721:L308F	ENSP00000310721:L308F	L	-	1	0	CYP7B1	65690272	1.000000	0.71417	0.998000	0.56505	0.997000	0.91878	2.287000	0.43505	0.055000	0.16094	0.655000	0.94253	CTT	CYP7B1	-	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450		0.463	CYP7B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP7B1	HGNC	protein_coding	OTTHUMT00000378550.1	G			65527718	-1	no_errors	ENST00000310193	ensembl	human	known	70_37	missense	SNP	1.000	A
CYTH3	9265	genome.wustl.edu	37	7	6210586	6210586	+	Missense_Mutation	SNP	C	C	T			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr7:6210586C>T	ENST00000350796.3	-	8	722	c.586G>A	c.(586-588)Gcc>Acc	p.A196T	CYTH3_ENST00000396741.2_Missense_Mutation_p.A111T|CYTH3_ENST00000488964.1_5'UTR	NM_004227.3	NP_004218.1	O43739	CYH3_HUMAN	cytohesin 3	196	SEC7. {ECO:0000255|PROSITE- ProRule:PRU00189}.				establishment of epithelial cell polarity (GO:0090162)|Golgi vesicle transport (GO:0048193)|positive regulation of cell adhesion (GO:0045785)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)|regulation of cell adhesion (GO:0030155)	cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|urinary_tract(1)	19						ATGATGATGGCGAATGACAGC	0.637																																																	0													176.0	125.0	142.0					7																	6210586		2203	4300	6503	SO:0001583	missense	9265			AJ223957	CCDS5346.1	7p22.1	2014-05-02	2008-08-14	2008-08-14	ENSG00000008256	ENSG00000008256		"""Pleckstrin homology (PH) domain containing"""	9504	protein-coding gene	gene with protein product		605081	"""pleckstrin homology, Sec7 and coiled-coil domains 3"""	PSCD3		9072969	Standard	NM_004227		Approved	GRP1, ARNO3, cytohesin-3	uc003spt.3	O43739	OTTHUMG00000023440	ENST00000350796.3:c.586G>A	7.37:g.6210586C>T	ENSP00000297044:p.Ala196Thr	Somatic		WXS	Illumina HiSeq	Phase_IV	A4D2N8	Missense_Mutation	SNP	pfam_Sec7,pfam_Pleckstrin_homology,superfamily_Sec7,smart_Sec7,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_Sec7	p.A196T	ENST00000350796.3	37	c.586	CCDS5346.1	7	.	.	.	.	.	.	.	.	.	.	C	23.5	4.418553	0.83559	.	.	ENSG00000008256	ENST00000350796;ENST00000396741	T;T	0.60040	0.22;0.22	5.27	5.27	0.74061	.	0.000000	0.85682	D	0.000000	T	0.72581	0.3478	M	0.93197	3.39	0.80722	D	1	P;P	0.51351	0.944;0.895	B;B	0.44085	0.44;0.235	T	0.82694	-0.0330	10	0.87932	D	0	.	18.8792	0.92350	0.0:1.0:0.0:0.0	.	111;196	B7Z2V9;O43739-2	.;.	T	196;111	ENSP00000297044:A196T;ENSP00000379967:A111T	ENSP00000297044:A196T	A	-	1	0	CYTH3	6177111	1.000000	0.71417	0.986000	0.45419	0.892000	0.51952	4.571000	0.60879	2.468000	0.83385	0.655000	0.94253	GCC	CYTH3	-	pfam_Sec7,superfamily_Sec7,smart_Sec7,pfscan_Sec7		0.637	CYTH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYTH3	HGNC	protein_coding	OTTHUMT00000207396.2	C	NM_004227		6210586	-1	no_errors	ENST00000350796	ensembl	human	known	70_37	missense	SNP	1.000	T
DAG1	1605	genome.wustl.edu	37	3	49570228	49570228	+	Missense_Mutation	SNP	G	G	T			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr3:49570228G>T	ENST00000539901.1	+	3	2842	c.2284G>T	c.(2284-2286)Gcc>Tcc	p.A762S	DAG1_ENST00000541308.1_Missense_Mutation_p.A762S|DAG1_ENST00000308775.2_Missense_Mutation_p.A762S|DAG1_ENST00000515359.2_Missense_Mutation_p.A762S|DAG1_ENST00000538711.1_Missense_Mutation_p.A762S|DAG1_ENST00000545947.1_Missense_Mutation_p.A762S	NM_001177644.2	NP_001171115	Q14118	DAG1_HUMAN	dystroglycan 1 (dystrophin-associated glycoprotein 1)	762					basement membrane organization (GO:0071711)|branching involved in salivary gland morphogenesis (GO:0060445)|calcium-dependent cell-matrix adhesion (GO:0016340)|commissural neuron axon guidance (GO:0071679)|cytoskeletal anchoring at plasma membrane (GO:0007016)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|extracellular matrix organization (GO:0030198)|membrane protein ectodomain proteolysis (GO:0006509)|microtubule anchoring (GO:0034453)|modulation by virus of host morphology or physiology (GO:0019048)|morphogenesis of an epithelial sheet (GO:0002011)|myelination in peripheral nervous system (GO:0022011)|negative regulation of cell migration (GO:0030336)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of protein kinase B signaling (GO:0051898)|nerve maturation (GO:0021682)|NLS-bearing protein import into nucleus (GO:0006607)|response to peptide hormone (GO:0043434)	basement membrane (GO:0005604)|basolateral plasma membrane (GO:0016323)|cell outer membrane (GO:0009279)|cell-cell adherens junction (GO:0005913)|contractile ring (GO:0070938)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dystroglycan complex (GO:0016011)|dystrophin-associated glycoprotein complex (GO:0016010)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|membrane raft (GO:0045121)|node of Ranvier (GO:0033268)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)	actin binding (GO:0003779)|alpha-actinin binding (GO:0051393)|calcium ion binding (GO:0005509)|laminin-1 binding (GO:0043237)|SH2 domain binding (GO:0042169)|structural constituent of muscle (GO:0008307)|tubulin binding (GO:0015631)|vinculin binding (GO:0017166)|virus receptor activity (GO:0001618)			NS(1)|autonomic_ganglia(2)|breast(2)|endometrium(1)|large_intestine(8)|lung(5)|ovary(2)|prostate(1)|skin(1)	23				BRCA - Breast invasive adenocarcinoma(193;5.13e-05)|Kidney(197;0.00241)|KIRC - Kidney renal clear cell carcinoma(197;0.00258)		GGTGGTCGCAGCCATCCTGCT	0.582																																																	0													57.0	46.0	50.0					3																	49570228		2203	4300	6503	SO:0001583	missense	1605			L19711	CCDS2799.1	3p21	2014-09-17			ENSG00000173402	ENSG00000173402			2666	protein-coding gene	gene with protein product	"""alpha-dystroglycan"", ""dystrophin-associated glycoprotein-1"", ""beta-dystroglycan"""	128239				7774920, 1741056	Standard	NM_001177643		Approved	A3a, 156DAG, AGRNR, DAG	uc021wyd.1	Q14118	OTTHUMG00000156869	ENST00000539901.1:c.2284G>T	3.37:g.49570228G>T	ENSP00000439334:p.Ala762Ser	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K6M7|Q969J9	Missense_Mutation	SNP	pfam_DAG1,superfamily_Cadherin-like,smart_Cadg	p.A762S	ENST00000539901.1	37	c.2284	CCDS2799.1	3	.	.	.	.	.	.	.	.	.	.	G	22.9	4.347409	0.82022	.	.	ENSG00000173402	ENST00000515359;ENST00000308775;ENST00000545947;ENST00000541308;ENST00000539901;ENST00000538711	T;T;T;T;T;T	0.49720	0.77;0.77;0.77;0.77;0.77;0.77	5.58	5.58	0.84498	.	0.000000	0.85682	D	0.000000	T	0.69593	0.3128	M	0.76002	2.32	0.80722	D	1	D	0.71674	0.998	D	0.79108	0.992	T	0.69386	-0.5159	9	.	.	.	-28.9866	18.3433	0.90313	0.0:0.0:1.0:0.0	.	762	Q14118	DAG1_HUMAN	S	762	ENSP00000440705:A762S;ENSP00000312435:A762S;ENSP00000442600:A762S;ENSP00000440590:A762S;ENSP00000439334:A762S;ENSP00000438421:A762S	.	A	+	1	0	DAG1	49545232	1.000000	0.71417	0.959000	0.39883	0.997000	0.91878	9.869000	0.99810	2.615000	0.88500	0.650000	0.86243	GCC	DAG1	-	pfam_DAG1		0.582	DAG1-203	KNOWN	basic|appris_principal|CCDS	protein_coding	DAG1	HGNC	protein_coding	OTTHUMT00000346326.1	G			49570228	+1	no_errors	ENST00000308775	ensembl	human	known	70_37	missense	SNP	1.000	T
DAP3	7818	genome.wustl.edu	37	1	155695905	155695905	+	Intron	DEL	T	T	-	rs377658512	byFrequency	TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr1:155695905delT	ENST00000368336.5	+	6	596				DAP3_ENST00000343043.3_Intron|DAP3_ENST00000496863.1_Intron|DAP3_ENST00000535183.1_Intron|MSTO1_ENST00000538143.1_Intron|DAP3_ENST00000421487.2_Intron|MSTO1_ENST00000452804.2_Intron|DAP3_ENST00000471642.2_Intron	NM_001199849.1|NM_004632.3	NP_001186778.1|NP_004623.1	P51398	RT29_HUMAN	death associated protein 3						apoptotic mitochondrial changes (GO:0008637)|apoptotic signaling pathway (GO:0097190)	mitochondrial ribosome (GO:0005761)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|small ribosomal subunit (GO:0015935)	poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	24	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)					ttttcttttcttttttttttt	0.433														46	0.0091853	0.0083	0.0144	5008	,	,		18259	0.0089		0.006	False		,,,				2504	0.0102																0																																										SO:0001627	intron_variant	7818			X83544	CCDS1120.1, CCDS55646.1, CCDS55647.1	1q22	2012-11-14			ENSG00000132676	ENSG00000132676		"""Mitochondrial ribosomal proteins / small subunits"""	2673	protein-coding gene	gene with protein product	"""mitochondrial 28S ribosomal protein S29"""	602074				7499268, 9284927	Standard	NM_004632		Approved	MRPS29, DAP-3, MRP-S29, bMRP-10, MGC126058, MGC126059, DKFZp686G12159	uc001flr.3	P51398	OTTHUMG00000035439	ENST00000368336.5:c.472+95T>-	1.37:g.155695905delT		Somatic		WXS	Illumina HiSeq	Phase_IV	B4DP59|B4DY62|E7EM60|Q13044|Q68CT7|Q96Q20	RNA	DEL	-	NULL	ENST00000368336.5	37	NULL	CCDS1120.1	1																																																																																			DAP3	-	-		0.433	DAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DAP3	HGNC	protein_coding	OTTHUMT00000086042.1	T	NM_004632		155695905	+1	no_errors	ENST00000471523	ensembl	human	known	70_37	rna	DEL	0.109	-
DAPK3	1613	genome.wustl.edu	37	19	3964273	3964273	+	Missense_Mutation	SNP	G	G	C			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr19:3964273G>C	ENST00000545797.2	-	4	765	c.522C>G	c.(520-522)ttC>ttG	p.F174L	MIR637_ENST00000385000.1_RNA|DAPK3_ENST00000301264.3_Missense_Mutation_p.F174L			O43293	DAPK3_HUMAN	death-associated protein kinase 3	174	Activation segment. {ECO:0000250|UniProtKB:O96017}.|Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cellular response to interferon-gamma (GO:0071346)|chromatin modification (GO:0016568)|cytokinesis (GO:0000910)|intracellular signal transduction (GO:0035556)|negative regulation of translation (GO:0017148)|neuron differentiation (GO:0030182)|positive regulation of apoptotic process (GO:0043065)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of apoptotic process (GO:0042981)|regulation of autophagy (GO:0010506)|regulation of cell motility (GO:2000145)|regulation of focal adhesion assembly (GO:0051893)|regulation of mitosis (GO:0007088)|regulation of mitotic cell cycle (GO:0007346)|regulation of smooth muscle contraction (GO:0006940)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|PML body (GO:0016605)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)|identical protein binding (GO:0042802)|leucine zipper domain binding (GO:0043522)|protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activity (GO:0004674)|Rho GTPase binding (GO:0017048)			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|skin(2)	21		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18)		AGATGTTCTTGAACTCGTTCC	0.632																																																	0													164.0	111.0	129.0					19																	3964273		2203	4300	6503	SO:0001583	missense	1613			AB007144	CCDS12116.1	19p13.3	2008-02-05				ENSG00000167657			2676	protein-coding gene	gene with protein product		603289				9488481	Standard	XM_005259508		Approved	ZIP, ZIPK	uc002lzc.1	O43293		ENST00000545797.2:c.522C>G	19.37:g.3964273G>C	ENSP00000442973:p.Phe174Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	A0AVN4|B3KQE2|Q05JY4	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,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.F174L	ENST00000545797.2	37	c.522	CCDS12116.1	19	.	.	.	.	.	.	.	.	.	.	G	16.16	3.043915	0.55110	.	.	ENSG00000167657	ENST00000301264;ENST00000545797;ENST00000442766	T;T	0.63096	-0.02;-0.02	5.48	4.45	0.53987	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	0.85682	D	0.000000	T	0.34745	0.0908	N	0.02315	-0.6	0.50813	D	0.999899	B	0.20988	0.05	B	0.25405	0.06	T	0.18777	-1.0326	10	0.09843	T	0.71	.	13.3139	0.60397	0.0763:0.0:0.9237:0.0	.	174	O43293	DAPK3_HUMAN	L	174;174;29	ENSP00000301264:F174L;ENSP00000442973:F174L	ENSP00000301264:F174L	F	-	3	2	DAPK3	3915273	1.000000	0.71417	1.000000	0.80357	0.606000	0.37113	3.637000	0.54324	1.323000	0.45263	0.555000	0.69702	TTC	DAPK3	-	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		0.632	DAPK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DAPK3	HGNC	protein_coding	OTTHUMT00000457817.2	G	NM_001348		3964273	-1	no_errors	ENST00000301264	ensembl	human	known	70_37	missense	SNP	1.000	C
DBNL	28988	genome.wustl.edu	37	7	44100682	44100682	+	3'UTR	SNP	G	G	T			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr7:44100682G>T	ENST00000448521.1	+	0	1558				DBNL_ENST00000440166.1_3'UTR|DBNL_ENST00000452943.1_3'UTR|DBNL_ENST00000497184.1_3'UTR|DBNL_ENST00000490734.2_3'UTR|DBNL_ENST00000468694.1_3'UTR|DBNL_ENST00000494774.1_3'UTR	NM_001014436.2	NP_001014436.1	Q9UJU6	DBNL_HUMAN	drebrin-like						activation of JUN kinase activity (GO:0007257)|apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|endocytosis (GO:0006897)|immune system process (GO:0002376)|neuron projection morphogenesis (GO:0048812)|podosome assembly (GO:0071800)|Rac protein signal transduction (GO:0016601)|synapse assembly (GO:0007416)	cell cortex (GO:0005938)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|podosome (GO:0002102)|postsynaptic density (GO:0014069)|ruffle (GO:0001726)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|enzyme activator activity (GO:0008047)			breast(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)|stomach(1)	12						CACCCCAAATGCAGCAATGGC	0.602																																					NSCLC(68;573 1327 18604 34760 37992)												0																																										SO:0001624	3_prime_UTR_variant	28988			AF151364	CCDS34622.1, CCDS34623.1, CCDS47579.1, CCDS64633.1, CCDS64634.1	7p13	2004-07-22			ENSG00000136279	ENSG00000136279			2696	protein-coding gene	gene with protein product		610106				10087302	Standard	NM_014063		Approved	SH3P7, HIP-55	uc003tjq.4	Q9UJU6	OTTHUMG00000155350	ENST00000448521.1:c.*167G>T	7.37:g.44100682G>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A4D2I9|B4DEM2|C9J7P1|P84070|Q6IAI8|Q96F30|Q96K74|Q9HBN8|Q9NR72	RNA	SNP	-	NULL	ENST00000448521.1	37	NULL	CCDS34623.1	7																																																																																			DBNL	-	-		0.602	DBNL-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	DBNL	HGNC	protein_coding	OTTHUMT00000339572.2	G	NM_014063		44100682	+1	no_errors	ENST00000497184	ensembl	human	known	70_37	rna	SNP	0.424	T
DCAF12L2	340578	genome.wustl.edu	37	X	125299273	125299273	+	Missense_Mutation	SNP	G	G	A			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chrX:125299273G>A	ENST00000360028.2	-	1	661	c.635C>T	c.(634-636)tCc>tTc	p.S212F	DCAF12L2_ENST00000538699.1_Missense_Mutation_p.S212F			Q5VW00	DC122_HUMAN	DDB1 and CUL4 associated factor 12-like 2	212										NS(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(36)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(3)	64						GCCGTCGCGGGAGCCGCTCAC	0.642																																																	0													43.0	45.0	44.0					X																	125299273		2203	4298	6501	SO:0001583	missense	340578			AL445072	CCDS43991.1	Xq25	2013-01-09	2009-07-17	2009-07-17	ENSG00000198354	ENSG00000198354		"""WD repeat domain containing"""	32950	protein-coding gene	gene with protein product			"""WD repeat domain 40C"""	WDR40C			Standard	NM_001013628		Approved		uc004euk.2	Q5VW00	OTTHUMG00000022348	ENST00000360028.2:c.635C>T	X.37:g.125299273G>A	ENSP00000353128:p.Ser212Phe	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RN42	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.S212F	ENST00000360028.2	37	c.635	CCDS43991.1	X	.	.	.	.	.	.	.	.	.	.	G	13.65	2.301680	0.40694	.	.	ENSG00000198354	ENST00000538699;ENST00000360028	T;T	0.74526	-0.85;-0.85	4.53	3.65	0.41850	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.32852	N	0.005565	D	0.85053	0.5609	M	0.85945	2.785	0.40780	D	0.983165	D	0.89917	1.0	D	0.91635	0.999	D	0.86607	0.1870	10	0.87932	D	0	.	8.794	0.34868	0.1149:0.0:0.8851:0.0	.	212	Q5VW00	DC122_HUMAN	F	212	ENSP00000441489:S212F;ENSP00000353128:S212F	ENSP00000353128:S212F	S	-	2	0	DCAF12L2	125126954	1.000000	0.71417	0.661000	0.29709	0.010000	0.07245	6.857000	0.75455	2.167000	0.68274	0.544000	0.68410	TCC	DCAF12L2	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom		0.642	DCAF12L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCAF12L2	HGNC	protein_coding	OTTHUMT00000058181.1	G	NM_001013628		125299273	-1	no_errors	ENST00000360028	ensembl	human	known	70_37	missense	SNP	0.999	A
DCBLD2	131566	genome.wustl.edu	37	3	98539110	98539110	+	Missense_Mutation	SNP	A	A	G			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr3:98539110A>G	ENST00000326840.6	-	7	1215	c.853T>C	c.(853-855)Ttt>Ctt	p.F285L	DCBLD2_ENST00000326857.9_Missense_Mutation_p.F285L|DCBLD2_ENST00000469648.1_5'Flank	NM_080927.3	NP_563615.3	Q96PD2	DCBD2_HUMAN	discoidin, CUB and LCCL domain containing 2	285	LCCL. {ECO:0000255|PROSITE- ProRule:PRU00123}.				cell adhesion (GO:0007155)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of cell growth (GO:0030308)|wound healing (GO:0042060)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)				breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|stomach(2)	25						TTAAATGTAAAAAGACTTGTA	0.313																																																	0													73.0	69.0	70.0					3																	98539110		1799	4071	5870	SO:0001583	missense	131566				CCDS46878.1	3q12.2	2006-04-12			ENSG00000057019	ENSG00000057019			24627	protein-coding gene	gene with protein product		608698				11447234	Standard	NM_080927		Approved	CLCP1, ESDN	uc003dtd.3	Q96PD2	OTTHUMG00000151985	ENST00000326840.6:c.853T>C	3.37:g.98539110A>G	ENSP00000321573:p.Phe285Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	B7WNL1|D3DN41|Q8N6M4|Q8TDX2	Missense_Mutation	SNP	pfam_Coagulation_fac_5/8-C_type_dom,pfam_CUB,pfam_LCCL,superfamily_Galactose-bd-like,superfamily_CUB,superfamily_LCCL,smart_CUB,smart_LCCL,smart_Coagulation_fac_5/8-C_type_dom,pfscan_CUB,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_LCCL	p.F285L	ENST00000326840.6	37	c.853	CCDS46878.1	3	.	.	.	.	.	.	.	.	.	.	A	27.6	4.849801	0.91277	.	.	ENSG00000057019	ENST00000326840;ENST00000326857	D;D	0.90069	-2.61;-2.61	5.54	5.54	0.83059	LCCL (3);	0.000000	0.85682	D	0.000000	D	0.94258	0.8156	M	0.82923	2.615	0.80722	D	1	D;D	0.76494	0.981;0.999	P;D	0.79108	0.814;0.992	D	0.94312	0.7546	10	0.49607	T	0.09	-17.7971	13.6364	0.62225	1.0:0.0:0.0:0.0	.	285;285	Q96PD2-2;Q96PD2	.;DCBD2_HUMAN	L	285	ENSP00000321573:F285L;ENSP00000321646:F285L	ENSP00000321573:F285L	F	-	1	0	DCBLD2	100021800	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.623000	0.83113	2.107000	0.64212	0.528000	0.53228	TTT	DCBLD2	-	superfamily_LCCL,pfscan_LCCL		0.313	DCBLD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCBLD2	HGNC	protein_coding	OTTHUMT00000324675.2	A	NM_080927		98539110	-1	no_errors	ENST00000326857	ensembl	human	known	70_37	missense	SNP	1.000	G
DCLK1	9201	genome.wustl.edu	37	13	36413287	36413287	+	Silent	SNP	C	C	T			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr13:36413287C>T	ENST00000360631.3	-	7	1273	c.1062G>A	c.(1060-1062)acG>acA	p.T354T	DCLK1_ENST00000379893.1_Silent_p.T47T|DCLK1_ENST00000255448.4_Silent_p.T354T			O15075	DCLK1_HUMAN	doublecortin-like kinase 1	354					axon extension (GO:0048675)|central nervous system development (GO:0007417)|central nervous system projection neuron axonogenesis (GO:0021952)|dendrite morphogenesis (GO:0048813)|endosomal transport (GO:0016197)|forebrain development (GO:0030900)|nervous system development (GO:0007399)|neuron migration (GO:0001764)|protein phosphorylation (GO:0006468)|response to virus (GO:0009615)	integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|receptor signaling protein activity (GO:0005057)			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(18)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(6)|urinary_tract(1)	64		Breast(139;0.0147)|Lung SC(185;0.0685)|Prostate(109;0.122)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;1.72e-06)|Epithelial(112;4.24e-05)|BRCA - Breast invasive adenocarcinoma(63;0.00159)|OV - Ovarian serous cystadenocarcinoma(117;0.0158)|GBM - Glioblastoma multiforme(144;0.0638)		ACGCAAGTGACGTAGAGGAGC	0.552																																																	0													65.0	49.0	54.0					13																	36413287		2203	4299	6502	SO:0001819	synonymous_variant	9201			AB002367	CCDS9354.1, CCDS55895.1, CCDS73561.1	13q13.3	2008-02-05	2007-04-02	2007-04-02	ENSG00000133083	ENSG00000133083			2700	protein-coding gene	gene with protein product		604742	"""doublecortin and CaM kinase-like 1"""	DCAMKL1		9747029, 10036192	Standard	NM_004734		Approved	KIAA0369, DCLK, DCDC3A	uc001uvf.3	O15075	OTTHUMG00000016729	ENST00000360631.3:c.1062G>A	13.37:g.36413287C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B7Z3E9|Q5VZY8|Q5VZZ0|Q5VZZ1	Silent	SNP	pfam_Prot_kinase_cat_dom,pfam_Doublecortin_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Doublecortin_dom,smart_Doublecortin_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Doublecortin_dom,pfscan_Prot_kinase_cat_dom	p.T354	ENST00000360631.3	37	c.1062		13																																																																																			DCLK1	-	NULL		0.552	DCLK1-010	KNOWN	basic	protein_coding	DCLK1	HGNC	protein_coding	OTTHUMT00000044487.1	C	NM_004734		36413287	-1	no_errors	ENST00000360631	ensembl	human	known	70_37	silent	SNP	1.000	T
DCLK3	85443	genome.wustl.edu	37	3	36756869	36756869	+	Missense_Mutation	SNP	C	C	G	rs560482238		TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr3:36756869C>G	ENST00000416516.2	-	5	2387	c.1897G>C	c.(1897-1899)Gag>Cag	p.E633Q	DCLK3_ENST00000498047.1_5'Flank	NM_033403.1	NP_208382.1	Q9C098	DCLK3_HUMAN	doublecortin-like kinase 3	633			E -> D (in dbSNP:rs35704209). {ECO:0000269|PubMed:17344846}.			cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.E633K(1)		breast(3)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	48						AAGTGACCCTCGCTGCTGGGG	0.552																																																	1	Substitution - Missense(1)	endometrium(1)											72.0	73.0	73.0					3																	36756869		2050	4199	6249	SO:0001583	missense	85443			AB051552	CCDS43064.1	3p22.3	2007-04-02	2007-04-02	2007-04-02	ENSG00000163673	ENSG00000163673			19005	protein-coding gene	gene with protein product		613167	"""doublecortin and CaM kinase-like 3"""	DCAMKL3		11214970, 16869982	Standard	NM_033403		Approved	KIAA1765, DCDC3C	uc003cgi.2	Q9C098	OTTHUMG00000155805	ENST00000416516.2:c.1897G>C	3.37:g.36756869C>G	ENSP00000394484:p.Glu633Gln	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.E633Q	ENST00000416516.2	37	c.1897	CCDS43064.1	3	.	.	.	.	.	.	.	.	.	.	C	17.04	3.286373	0.59867	.	.	ENSG00000163673	ENST00000416516	T	0.68479	-0.33	5.75	4.87	0.63330	Protein kinase-like domain (1);	.	.	.	.	T	0.58366	0.2117	L	0.27053	0.805	0.34187	D	0.671653	P	0.44986	0.847	B	0.42771	0.397	T	0.69007	-0.5259	9	0.39692	T	0.17	.	16.7419	0.85461	0.1299:0.8701:0.0:0.0	.	633	Q9C098	DCLK3_HUMAN	Q	633	ENSP00000394484:E633Q	ENSP00000394484:E633Q	E	-	1	0	DCLK3	36731873	1.000000	0.71417	0.855000	0.33649	0.934000	0.57294	3.792000	0.55476	1.552000	0.49463	0.655000	0.94253	GAG	DCLK3	-	superfamily_Kinase-like_dom		0.552	DCLK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCLK3	HGNC	protein_coding	OTTHUMT00000341727.1	C	XM_047355		36756869	-1	no_errors	ENST00000416516	ensembl	human	known	70_37	missense	SNP	0.987	G
DCLRE1C	64421	genome.wustl.edu	37	10	14961745	14961745	+	Missense_Mutation	SNP	C	C	T			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr10:14961745C>T	ENST00000378278.2	-	13	1185	c.1148G>A	c.(1147-1149)cGa>cAa	p.R383Q	DCLRE1C_ENST00000357717.2_Missense_Mutation_p.R268Q|DCLRE1C_ENST00000378254.1_Missense_Mutation_p.R263Q|DCLRE1C_ENST00000378246.2_Missense_Mutation_p.R268Q|DCLRE1C_ENST00000396817.2_Missense_Mutation_p.R263Q|DCLRE1C_ENST00000492201.1_5'UTR|DCLRE1C_ENST00000378249.1_Missense_Mutation_p.R268Q|DCLRE1C_ENST00000378255.1_Missense_Mutation_p.R263Q|DCLRE1C_ENST00000453695.2_Missense_Mutation_p.R263Q|DCLRE1C_ENST00000378258.1_Missense_Mutation_p.R263Q|DCLRE1C_ENST00000378242.1_Missense_Mutation_p.R36Q|DCLRE1C_ENST00000378289.4_Missense_Mutation_p.R383Q			Q96SD1	DCR1C_HUMAN	DNA cross-link repair 1C	383					B cell differentiation (GO:0030183)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA recombination (GO:0006310)|double-strand break repair (GO:0006302)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|response to ionizing radiation (GO:0010212)|telomere maintenance (GO:0000723)	nucleus (GO:0005634)	5'-3' exonuclease activity (GO:0008409)|single-stranded DNA endodeoxyribonuclease activity (GO:0000014)			breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)	17						ACCTGAGTCTCGGTGAACTGT	0.507								Non-homologous end-joining																																									0													146.0	138.0	141.0					10																	14961745		2203	4300	6503	SO:0001583	missense	64421			BC022254	CCDS7105.1, CCDS31149.1, CCDS31150.1	10p13	2014-09-17	2010-06-24		ENSG00000152457	ENSG00000152457			17642	protein-coding gene	gene with protein product	"""PSO2 homolog (S. cerevisiae)"""	605988	"""severe combined immunodeficiency, type a (Athabascan)"", ""DNA cross-link repair 1C (PSO2 homolog, S. cerevisiae)"""	SCIDA		11336668, 9443881	Standard	XM_005252558		Approved	ARTEMIS, FLJ11360, SNM1C, A-SCID	uc001inn.3	Q96SD1	OTTHUMG00000017716	ENST00000378278.2:c.1148G>A	10.37:g.14961745C>T	ENSP00000367527:p.Arg383Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	D3DRT6|Q1HCL2|Q5JSR4|Q5JSR5|Q5JSR7|Q5JSR8|Q5JSR9|Q5JSS0|Q5JSS7|Q6PK14|Q8N101|Q8N132|Q8TBW9|Q9BVW9|Q9HAM4	Missense_Mutation	SNP	pfam_DRMBL	p.R383Q	ENST00000378278.2	37	c.1148	CCDS31149.1	10	.	.	.	.	.	.	.	.	.	.	C	13.51	2.259253	0.39995	.	.	ENSG00000152457	ENST00000378289;ENST00000453695;ENST00000378246;ENST00000357717;ENST00000378249;ENST00000396817;ENST00000378255;ENST00000378254;ENST00000378278;ENST00000378258;ENST00000378242	T;T;T;T;T;T;T;T;T;T	0.76060	-0.99;-0.35;-0.35;-0.35;-0.35;-0.35;-0.35;-0.35;-0.91;-0.35	5.61	-10.2	0.00374	.	1.608970	0.02810	N	0.124183	T	0.49012	0.1532	N	0.22421	0.69	0.09310	N	1	B;B;B	0.06786	0.0;0.0;0.001	B;B;B	0.04013	0.001;0.001;0.001	T	0.34625	-0.9821	10	0.13853	T	0.58	.	2.3929	0.04383	0.1665:0.2183:0.1163:0.4989	.	383;268;383	Q96SD1-4;Q96SD1-3;Q96SD1	.;.;DCR1C_HUMAN	Q	383;263;268;268;268;263;263;263;383;263;36	ENSP00000367538:R383Q;ENSP00000400529:R263Q;ENSP00000367492:R268Q;ENSP00000350349:R268Q;ENSP00000367496:R268Q;ENSP00000380030:R263Q;ENSP00000367503:R263Q;ENSP00000367502:R263Q;ENSP00000367527:R383Q;ENSP00000367506:R263Q	ENSP00000350349:R268Q	R	-	2	0	DCLRE1C	15001751	0.000000	0.05858	0.000000	0.03702	0.142000	0.21351	-0.581000	0.05820	-1.622000	0.01560	-0.982000	0.02568	CGA	DCLRE1C	-	NULL		0.507	DCLRE1C-009	KNOWN	basic|appris_principal|CCDS	protein_coding	DCLRE1C	HGNC	protein_coding	OTTHUMT00000046934.1	C	NM_022487		14961745	-1	no_errors	ENST00000378278	ensembl	human	known	70_37	missense	SNP	0.000	T
DCUN1D3	123879	genome.wustl.edu	37	16	20871455	20871455	+	Missense_Mutation	SNP	T	T	C			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr16:20871455T>C	ENST00000324344.4	-	3	953	c.668A>G	c.(667-669)cAa>cGa	p.Q223R	ERI2_ENST00000564349.1_Intron|DCUN1D3_ENST00000563934.1_Missense_Mutation_p.Q223R	NM_173475.2	NP_775746.1	Q8IWE4	DCNL3_HUMAN	DCN1, defective in cullin neddylation 1, domain containing 3	223	DCUN1. {ECO:0000255|PROSITE- ProRule:PRU00574}.				negative regulation of cell growth (GO:0030308)|positive regulation of apoptotic process (GO:0043065)|response to gamma radiation (GO:0010332)|response to UV-C (GO:0010225)	perinuclear region of cytoplasm (GO:0048471)				NS(2)|breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(3)|ovary(2)	14				GBM - Glioblastoma multiforme(48;0.249)		GTTTAGCCATTGGTCCAATAC	0.527																																																	0													154.0	154.0	154.0					16																	20871455		2201	4300	6501	SO:0001583	missense	123879			BC040442	CCDS10592.1	16p12.3	2013-06-10	2013-06-10		ENSG00000188215	ENSG00000188215			28734	protein-coding gene	gene with protein product			"""DCN1, defective in cullin neddylation 1, domain containing 3 (S. cerevisiae)"""			15988528	Standard	NM_173475		Approved	MGC48972, FLJ41725, DKFZp686O0290	uc002dhz.3	Q8IWE4	OTTHUMG00000131553	ENST00000324344.4:c.668A>G	16.37:g.20871455T>C	ENSP00000319482:p.Gln223Arg	Somatic		WXS	Illumina HiSeq	Phase_IV	B3KVY4	Missense_Mutation	SNP	pfam_PONY_dom	p.Q223R	ENST00000324344.4	37	c.668	CCDS10592.1	16	.	.	.	.	.	.	.	.	.	.	T	8.942	0.966106	0.18659	.	.	ENSG00000188215	ENST00000324344	.	.	.	6.08	6.08	0.98989	Domain of unknown function DUF298 (2);	0.096254	0.64402	D	0.000001	T	0.27629	0.0679	N	0.01668	-0.77	0.50313	D	0.999864	B	0.11235	0.004	B	0.08055	0.003	T	0.19095	-1.0316	9	0.21014	T	0.42	-13.4862	16.6438	0.85155	0.0:0.0:0.0:1.0	.	223	Q8IWE4	DCNL3_HUMAN	R	223	.	ENSP00000319482:Q223R	Q	-	2	0	DCUN1D3	20778956	1.000000	0.71417	0.999000	0.59377	0.978000	0.69477	3.219000	0.51200	2.333000	0.79357	0.533000	0.62120	CAA	DCUN1D3	-	pfam_PONY_dom		0.527	DCUN1D3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DCUN1D3	HGNC	protein_coding	OTTHUMT00000254415.2	T	NM_173475		20871455	-1	no_errors	ENST00000324344	ensembl	human	known	70_37	missense	SNP	1.000	C
DDIT3	1649	genome.wustl.edu	37	12	57910641	57910641	+	Missense_Mutation	SNP	G	G	A	rs568713877		TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr12:57910641G>A	ENST00000346473.3	-	4	640	c.461C>T	c.(460-462)gCg>gTg	p.A154V	DDIT3_ENST00000547303.1_Missense_Mutation_p.A154V|DDIT3_ENST00000552740.1_Missense_Mutation_p.A177V|RN7SL312P_ENST00000582079.1_RNA|MIR616_ENST00000385293.1_RNA|DDIT3_ENST00000551116.1_Missense_Mutation_p.A177V	NM_001195057.1|NM_004083.5	NP_001181986.1|NP_004074.2	P35638	DDIT3_HUMAN	DNA-damage-inducible transcript 3	154	bZIP. {ECO:0000255|PROSITE- ProRule:PRU00978}.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|blood vessel maturation (GO:0001955)|cell cycle arrest (GO:0007050)|cell redox homeostasis (GO:0045454)|cellular protein metabolic process (GO:0044267)|cellular response to DNA damage stimulus (GO:0006974)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER overload response (GO:0006983)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of determination of dorsal identity (GO:2000016)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|regulation of DNA-templated transcription in response to stress (GO:0043620)|regulation of transcription involved in anterior/posterior axis specification (GO:0044324)|regulation of transcription, DNA-templated (GO:0006355)|release of sequestered calcium ion into cytosol (GO:0051209)|response to endoplasmic reticulum stress (GO:0034976)|response to starvation (GO:0042594)|response to unfolded protein (GO:0006986)|Wnt signaling pathway (GO:0016055)	late endosome (GO:0005770)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)		EWSR1/DDIT3(45)|FUS/DDIT3(631)	central_nervous_system(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(2)|skin(1)	16						TCGGCGAGTCGCCTCTACTTC	0.527			T	FUS	liposarcoma																																GBM(112;1383 1547 7626 23045 28770)			Dom	yes		12	12q13.1-q13.2	1649	DNA-damage-inducible transcript 3		M	0													112.0	116.0	115.0					12																	57910641		2203	4300	6503	SO:0001583	missense	1649			BC003637	CCDS8943.1, CCDS55838.1	12q13.1-q13.2	2008-02-05				ENSG00000175197			2726	protein-coding gene	gene with protein product	"""C/EBP zeta"""	126337				1990262	Standard	NM_001195053		Approved	CHOP10, GADD153, CHOP	uc021qzk.1	P35638		ENST00000346473.3:c.461C>T	12.37:g.57910641G>A	ENSP00000340671:p.Ala154Val	Somatic		WXS	Illumina HiSeq	Phase_IV	F8VS99	Missense_Mutation	SNP	pfam_bZIP,smart_bZIP,pirsf_DNA_damage_induc_transcript_3,pfscan_bZIP	p.A177V	ENST00000346473.3	37	c.530	CCDS8943.1	12	.	.	.	.	.	.	.	.	.	.	G	3.082	-0.188729	0.06299	.	.	ENSG00000175197	ENST00000547303;ENST00000551116;ENST00000346473;ENST00000552740	T;T;T;T	0.40476	1.03;1.03;1.03;1.03	5.75	0.646	0.17789	Basic-leucine zipper (bZIP) transcription factor (2);	0.556473	0.20350	N	0.094078	T	0.19248	0.0462	N	0.14661	0.345	0.09310	N	1	B;B	0.13145	0.007;0.001	B;B	0.08055	0.003;0.0	T	0.08229	-1.0732	10	0.37606	T	0.19	-3.0495	2.4777	0.04580	0.2824:0.1185:0.4776:0.1216	.	177;154	F8VS99;P35638	.;DDIT3_HUMAN	V	154;177;154;177	ENSP00000447188:A154V;ENSP00000448665:A177V;ENSP00000340671:A154V;ENSP00000447803:A177V	ENSP00000340671:A154V	A	-	2	0	DDIT3	56196908	0.325000	0.24660	0.236000	0.24074	0.054000	0.15201	1.260000	0.32968	0.475000	0.27415	-0.794000	0.03295	GCG	DDIT3	-	smart_bZIP,pirsf_DNA_damage_induc_transcript_3,pfscan_bZIP		0.527	DDIT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DDIT3	HGNC	protein_coding	OTTHUMT00000407137.1	G	NM_004083		57910641	-1	no_errors	ENST00000551116	ensembl	human	known	70_37	missense	SNP	0.043	A
DDX1	1653	genome.wustl.edu	37	2	15743960	15743960	+	Silent	SNP	C	C	T			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr2:15743960C>T	ENST00000381341.2	+	10	887	c.498C>T	c.(496-498)ggC>ggT	p.G166G	DDX1_ENST00000233084.3_Silent_p.G166G			Q92499	DDX1_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 1	166	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.|Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.|Necessary for interaction with HNRNPK.|Necessary for interaction with RELA.				ATP catabolic process (GO:0006200)|DNA duplex unwinding (GO:0032508)|double-strand break repair (GO:0006302)|multicellular organismal development (GO:0007275)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|regulation of transcription, DNA-templated (GO:0006355)|regulation of translational initiation (GO:0006446)|response to exogenous dsRNA (GO:0043330)|response to virus (GO:0009615)|spliceosomal complex assembly (GO:0000245)|transcription, DNA-templated (GO:0006351)|tRNA splicing, via endonucleolytic cleavage and ligation (GO:0006388)	cleavage body (GO:0071920)|cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|membrane (GO:0016020)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)|tRNA-splicing ligase complex (GO:0072669)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA/RNA helicase activity (GO:0033677)|double-stranded RNA binding (GO:0003725)|exonuclease activity (GO:0004527)|nuclease activity (GO:0004518)|poly(A) binding (GO:0008143)|poly(A) RNA binding (GO:0044822)|RNA helicase activity (GO:0003724)|transcription cofactor activity (GO:0003712)			autonomic_ganglia(1)|breast(1)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(13)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	29	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.197)	all_epithelial(98;2.96e-07)|Acute lymphoblastic leukemia(84;4.24e-05)|Ovarian(717;0.0694)	GBM - Glioblastoma multiforme(3;0.00969)	Epithelial(75;4.35e-05)|OV - Ovarian serous cystadenocarcinoma(76;0.133)		TTGGATTTGGCTTTGGTGGAA	0.279																																																	0													89.0	86.0	87.0					2																	15743960		2203	4300	6503	SO:0001819	synonymous_variant	1653			X70649	CCDS1686.1	2p24	2012-02-23	2012-02-23		ENSG00000079785	ENSG00000079785		"""DEAD-boxes"""	2734	protein-coding gene	gene with protein product		601257	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 1"", ""DEAD (Asp-Glu-Ala-Asp) box polypeptide 1"""			1552844, 19058135	Standard	NM_004939		Approved	DBP-RB	uc002rce.4	Q92499	OTTHUMG00000090593	ENST00000381341.2:c.498C>T	2.37:g.15743960C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B4DME8|B4DPN6	Silent	SNP	pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_SPRY_rcpt,pfam_Helicase_C,superfamily_ConA-like_lec_gl_sf,smart_Helicase_ATP-bd,smart_SPla/RYanodine_receptor_subgr,smart_Helicase_C,pfscan_B30.2/SPRY,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif	p.G166	ENST00000381341.2	37	c.498	CCDS1686.1	2																																																																																			DDX1	-	pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_Helicase_ATP-bd,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY		0.279	DDX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DDX1	HGNC	protein_coding	OTTHUMT00000207141.2	C	NM_004939		15743960	+1	no_errors	ENST00000233084	ensembl	human	known	70_37	silent	SNP	1.000	T
DDX25	29118	genome.wustl.edu	37	11	125788628	125788628	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr11:125788628C>T	ENST00000263576.6	+	10	1299	c.1144C>T	c.(1144-1146)Cag>Tag	p.Q382*	RP11-680F20.9_ENST00000533033.2_RNA|DDX25_ENST00000525943.1_3'UTR	NM_013264.4	NP_037396.3	Q9UHL0	DDX25_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 25	382	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.				mRNA export from nucleus (GO:0006406)|multicellular organismal development (GO:0007275)|regulation of translation (GO:0006417)|spermatid development (GO:0007286)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|RNA binding (GO:0003723)			breast(2)|endometrium(2)|kidney(1)|large_intestine(2)|ovary(2)|upper_aerodigestive_tract(1)	10	all_hematologic(175;0.177)	Breast(109;0.0021)|all_lung(97;0.0203)|Lung NSC(97;0.0203)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.14e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.046)		TTCCATCATTCAGAGGTTTCG	0.478																																																	0													120.0	114.0	116.0					11																	125788628		1929	4137	6066	SO:0001587	stop_gained	29118			AF155140	CCDS44766.1	11q24	2012-02-23	2012-02-23		ENSG00000109832	ENSG00000109832		"""DEAD-boxes"""	18698	protein-coding gene	gene with protein product	"""gonadotropin-regulated testicular RNA helicase"""	607663	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 25"", ""DEAD (Asp-Glu-Ala-Asp) box polypeptide 25"""			10608860, 15096601	Standard	NM_013264		Approved	GRTH	uc001qcz.5	Q9UHL0	OTTHUMG00000165859	ENST00000263576.6:c.1144C>T	11.37:g.125788628C>T	ENSP00000263576:p.Gln382*	Somatic		WXS	Illumina HiSeq	Phase_IV	B2R6Z0|Q5XVN2|Q86W81|Q8IYP1	Nonsense_Mutation	SNP	pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif	p.Q382*	ENST00000263576.6	37	c.1144	CCDS44766.1	11	.	.	.	.	.	.	.	.	.	.	C	36	5.670964	0.96754	.	.	ENSG00000109832	ENST00000525943;ENST00000263576;ENST00000526875	.	.	.	5.36	5.36	0.76844	.	0.193555	0.38217	N	0.001767	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.24483	T	0.36	-15.3715	13.5982	0.62002	0.0:0.844:0.156:0.0	.	.	.	.	X	268;382;248	.	ENSP00000263576:Q382X	Q	+	1	0	DDX25	125293838	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.067000	0.57527	2.531000	0.85337	0.561000	0.74099	CAG	DDX25	-	pfam_Helicase_C,smart_Helicase_C,pfscan_Helicase_C		0.478	DDX25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DDX25	HGNC	protein_coding	OTTHUMT00000386736.3	C	NM_013264		125788628	+1	no_errors	ENST00000263576	ensembl	human	known	70_37	nonsense	SNP	0.999	T
DDX31	64794	genome.wustl.edu	37	9	135505740	135505740	+	Silent	SNP	G	G	A			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr9:135505740G>A	ENST00000372159.3	-	16	2008	c.1857C>T	c.(1855-1857)acC>acT	p.T619T	DDX31_ENST00000372153.1_Missense_Mutation_p.P611L|DDX31_ENST00000438527.3_Silent_p.T490T	NM_022779.7	NP_073616.6	Q9H8H2	DDX31_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 31	619	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.					nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(1)	27				OV - Ovarian serous cystadenocarcinoma(145;2.67e-06)|Epithelial(140;7.61e-05)		CAATCCGGGCGGTTCTTCCAA	0.478																																																	0													105.0	111.0	109.0					9																	135505740		2203	4300	6503	SO:0001819	synonymous_variant	64794			AF427339	CCDS6951.1, CCDS6952.1	9q34.2	2012-04-17	2003-06-13		ENSG00000125485	ENSG00000125485		"""DEAD-boxes"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	16715	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 25"""		"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 31"""				Standard	NM_022779		Approved	FLJ13633, FLJ23349, FLJ14578, PPP1R25	uc004cbq.1	Q9H8H2	OTTHUMG00000020843	ENST00000372159.3:c.1857C>T	9.37:g.135505740G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q5K6N2|Q5K6N3|Q5K6N4|Q5VZJ4|Q5VZJ9|Q96E91|Q96NY2|Q96SX5|Q9H5K6	Missense_Mutation	SNP	pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,smart_Helicase_ATP-bd,smart_Helicase_C,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_RNA_helicase_DEAD_Q_motif	p.P611L	ENST00000372159.3	37	c.1832	CCDS6951.1	9	.	.	.	.	.	.	.	.	.	.	G	8.284	0.816108	0.16607	.	.	ENSG00000125485	ENST00000372153	T	0.03301	3.98	5.54	-4.3	0.03710	.	.	.	.	.	T	0.03390	0.0098	.	.	.	0.80722	D	1	B	0.18741	0.03	B	0.12156	0.007	T	0.24693	-1.0153	8	0.72032	D	0.01	-24.1219	8.9883	0.36008	0.3462:0.4654:0.1884:0.0	.	611	Q9H8H2-2	.	L	611	ENSP00000361226:P611L	ENSP00000361226:P611L	P	-	2	0	DDX31	134495561	0.014000	0.17966	0.790000	0.31976	0.870000	0.49936	-1.221000	0.02968	-1.353000	0.02191	-0.355000	0.07637	CCG	DDX31	-	smart_Helicase_C,pfscan_Helicase_C		0.478	DDX31-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DDX31	HGNC	protein_coding	OTTHUMT00000054794.1	G	NM_138620		135505740	-1	no_errors	ENST00000372153	ensembl	human	known	70_37	missense	SNP	0.762	A
DDX56	54606	genome.wustl.edu	37	7	44605535	44605535	+	3'UTR	SNP	G	G	A			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr7:44605535G>A	ENST00000258772.5	-	0	1816				DDX56_ENST00000485367.1_5'UTR	NM_001257189.1|NM_019082.3	NP_001244118.1|NP_061955.1	Q9NY93	DDX56_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 56						ATP catabolic process (GO:0006200)|rRNA processing (GO:0006364)	membrane (GO:0016020)|nucleolus (GO:0005730)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(5)|lung(5)|upper_aerodigestive_tract(1)	16						CCAGAGCCTCGCCTGTCCACG	0.587											OREG0018039	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0																																										SO:0001624	3_prime_UTR_variant	54606			AJ131712	CCDS5492.1, CCDS59053.1	7p13	2012-02-23	2012-02-23		ENSG00000136271	ENSG00000136271		"""DEAD-boxes"""	18193	protein-coding gene	gene with protein product	"""nucleolar helicase of 61 kDa"""	608023	"""DEAD (Asp-Glu-Ala-Asp) box polypeptide 56"""			10749921	Standard	NM_019082		Approved	NOH61	uc003tlg.4	Q9NY93	OTTHUMG00000129211	ENST00000258772.5:c.*66C>T	7.37:g.44605535G>A		Somatic	925	WXS	Illumina HiSeq	Phase_IV	A4D2K9|C9JV95|Q6IAE2|Q9H9I8	RNA	SNP	-	NULL	ENST00000258772.5	37	NULL	CCDS5492.1	7																																																																																			DDX56	-	-		0.587	DDX56-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DDX56	HGNC	protein_coding	OTTHUMT00000251291.1	G	NM_019082		44605535	-1	no_errors	ENST00000467318	ensembl	human	known	70_37	rna	SNP	0.002	A
DEFB1	1672	genome.wustl.edu	37	8	6728244	6728244	+	Missense_Mutation	SNP	G	G	C	rs148577927		TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr8:6728244G>C	ENST00000297439.3	-	2	330	c.166C>G	c.(166-168)Caa>Gaa	p.Q56E		NM_005218.3	NP_005209.1	P60022	DEFB1_HUMAN	defensin, beta 1	56					acute inflammatory response (GO:0002526)|antibacterial humoral response (GO:0019731)|chemotaxis (GO:0006935)|defense response to Gram-positive bacterium (GO:0050830)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|innate immune response (GO:0045087)|innate immune response in mucosa (GO:0002227)|response to bacterium (GO:0009617)|response to testosterone (GO:0033574)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				lung(1)	1			STAD - Stomach adenocarcinoma(24;0.0984)	COAD - Colon adenocarcinoma(149;0.0162)|READ - Rectum adenocarcinoma(644;0.128)		CAGGTGCCTTGAATTTTGGTA	0.458																																					Pancreas(35;916 948 9612 33610 36642)												0													117.0	103.0	108.0					8																	6728244		2203	4300	6503	SO:0001583	missense	1672			X92744	CCDS5959.1	8p23.1	2012-03-27			ENSG00000164825	ENSG00000164825		"""Defensins, beta"""	2766	protein-coding gene	gene with protein product		602056				7628632	Standard	NM_005218		Approved	HBD-1, DEFB-1, DEFB101, HBD1, BD1, MGC51822	uc003wqs.2	P60022	OTTHUMG00000090367	ENST00000297439.3:c.166C>G	8.37:g.6728244G>C	ENSP00000297439:p.Gln56Glu	Somatic		WXS	Illumina HiSeq	Phase_IV	Q09753	Missense_Mutation	SNP	pfam_Defensin_beta-typ	p.Q56E	ENST00000297439.3	37	c.166	CCDS5959.1	8	.	.	.	.	.	.	.	.	.	.	G	10.48	1.362974	0.24684	.	.	ENSG00000164825	ENST00000297439	T	0.21734	1.99	4.24	-4.61	0.03380	.	3.810970	0.00757	N	0.001108	T	0.09642	0.0237	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.13629	-1.0502	9	0.24483	T	0.36	0.8962	0.2068	0.00151	0.2548:0.2015:0.2712:0.2725	.	56	P60022	DEFB1_HUMAN	E	56	ENSP00000297439:Q56E	ENSP00000297439:Q56E	Q	-	1	0	DEFB1	6715654	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.205000	0.09411	-0.757000	0.04697	-0.344000	0.07964	CAA	DEFB1	-	pfam_Defensin_beta-typ		0.458	DEFB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DEFB1	HGNC	protein_coding	OTTHUMT00000251292.1	G	NM_005218		6728244	-1	no_errors	ENST00000297439	ensembl	human	known	70_37	missense	SNP	0.000	C
DET1	55070	genome.wustl.edu	37	15	89074464	89074464	+	Missense_Mutation	SNP	G	G	A			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr15:89074464G>A	ENST00000268148.8	-	2	618	c.473C>T	c.(472-474)tCa>tTa	p.S158L	DET1_ENST00000559656.1_5'Flank|DET1_ENST00000558413.1_Intron|DET1_ENST00000564406.1_Missense_Mutation_p.S169L|DET1_ENST00000444300.1_Missense_Mutation_p.S169L	NM_001144074.1	NP_001137546.1	Q7L5Y6	DET1_HUMAN	de-etiolated homolog 1 (Arabidopsis)	158						nucleus (GO:0005634)				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(10)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	23	Lung NSC(78;0.105)|all_lung(78;0.182)		BRCA - Breast invasive adenocarcinoma(143;0.188)			GTAGGCAGCTGAGCCCACGAT	0.532																																																	0													46.0	46.0	46.0					15																	89074464		1991	4172	6163	SO:0001583	missense	55070			BC001242	CCDS45343.1, CCDS45344.1	15q25.3	2004-12-13				ENSG00000140543			25477	protein-coding gene	gene with protein product		608727				14739464	Standard	NM_001144074		Approved	FLJ10103	uc002bmq.2	Q7L5Y6		ENST00000268148.8:c.473C>T	15.37:g.89074464G>A	ENSP00000268148:p.Ser158Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	B3KNN6|Q2VPC0|Q9NWD5	Missense_Mutation	SNP	pfam_De-etiolated_protein_1_Det1	p.S169L	ENST00000268148.8	37	c.506	CCDS45344.1	15	.	.	.	.	.	.	.	.	.	.	G	20.4	3.991305	0.74703	.	.	ENSG00000140543	ENST00000444300;ENST00000268148	.	.	.	6.17	6.17	0.99709	.	0.054469	0.85682	D	0.000000	T	0.69691	0.3139	M	0.78049	2.395	0.80722	D	1	P;P	0.39326	0.668;0.668	B;B	0.40444	0.329;0.329	T	0.72849	-0.4168	9	0.87932	D	0	-16.1137	19.8676	0.96824	0.0:0.0:1.0:0.0	.	158;169	Q7L5Y6;B3KNN6	DET1_HUMAN;.	L	169;158	.	ENSP00000268148:S158L	S	-	2	0	DET1	86875468	1.000000	0.71417	0.969000	0.41365	0.999000	0.98932	7.293000	0.78740	2.941000	0.99782	0.655000	0.94253	TCA	DET1	-	pfam_De-etiolated_protein_1_Det1		0.532	DET1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DET1	HGNC	protein_coding	OTTHUMT00000415442.2	G	NM_017996		89074464	-1	no_errors	ENST00000444300	ensembl	human	known	70_37	missense	SNP	1.000	A
DGKH	160851	genome.wustl.edu	37	13	42733412	42733412	+	Missense_Mutation	SNP	C	C	G			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr13:42733412C>G	ENST00000337343.4	+	6	654	c.633C>G	c.(631-633)ttC>ttG	p.F211L	DGKH_ENST00000540693.1_Missense_Mutation_p.F211L|DGKH_ENST00000498255.2_3'UTR|DGKH_ENST00000538674.1_Intron|DGKH_ENST00000379274.2_Missense_Mutation_p.F75L|DGKH_ENST00000261491.5_Missense_Mutation_p.F211L|DGKH_ENST00000536612.1_Missense_Mutation_p.F75L	NM_178009.3	NP_821077.1	Q86XP1	DGKH_HUMAN	diacylglycerol kinase, eta	211					blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein oligomerization (GO:0051259)	cytoplasm (GO:0005737)|endosome (GO:0005768)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)			breast(2)|endometrium(3)|kidney(5)|large_intestine(11)|lung(9)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	43		Lung NSC(96;1.02e-05)|Prostate(109;0.0168)|Lung SC(185;0.0262)|Breast(139;0.0709)|Hepatocellular(98;0.114)		OV - Ovarian serous cystadenocarcinoma(117;5.88e-05)|GBM - Glioblastoma multiforme(144;0.000935)|BRCA - Breast invasive adenocarcinoma(63;0.109)		TGTGTAAATTCAAGGCTCACA	0.348																																																	0													60.0	52.0	54.0					13																	42733412		2203	4300	6503	SO:0001583	missense	160851			AB078967	CCDS9381.1, CCDS9382.1, CCDS55898.1	13q13.3	2013-01-10			ENSG00000102780	ENSG00000102780		"""Sterile alpha motif (SAM) domain containing"", ""Pleckstrin homology (PH) domain containing"""	2854	protein-coding gene	gene with protein product		604071				8702685	Standard	XM_005266271		Approved	DGKeta	uc001uyl.2	Q86XP1	OTTHUMG00000016804	ENST00000337343.4:c.633C>G	13.37:g.42733412C>G	ENSP00000337572:p.Phe211Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	A2A2W7|A6NFX7|B4DZ34|Q5VZW0|Q6PI56|Q86XP2|Q8N3N0|Q8N7J9	Missense_Mutation	SNP	pfam_Diacylglycerol_kin_accessory,pfam_Diacylglycerol_kinase_cat_dom,pfam_Pleckstrin_homology,pfam_SAM_2,pfam_Prot_Kinase_C-like_PE/DAG-bd,pfam_SAM_type1,superfamily_SAM/pointed,smart_Pleckstrin_homology,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Diacylglycerol_kinase_cat_dom,smart_Diacylglycerol_kin_accessory,smart_SAM,pfscan_Pleckstrin_homology,pfscan_SAM,pfscan_Prot_Kinase_C-like_PE/DAG-bd	p.F211L	ENST00000337343.4	37	c.633	CCDS9381.1	13	.	.	.	.	.	.	.	.	.	.	C	20.7	4.040672	0.75732	.	.	ENSG00000102780	ENST00000540693;ENST00000337343;ENST00000261491;ENST00000379274;ENST00000536612	D;D;D;D;D	0.92099	-1.68;-2.97;-1.68;-2.97;-2.97	5.45	4.6	0.57074	Protein kinase C-like, phorbol ester/diacylglycerol binding (4);	0.000000	0.85682	D	0.000000	D	0.91660	0.7364	N	0.25825	0.765	0.80722	D	1	P;D;B	0.63046	0.778;0.992;0.356	P;D;B	0.74674	0.498;0.984;0.398	D	0.90067	0.4160	10	0.38643	T	0.18	.	9.3184	0.37948	0.0:0.79:0.0:0.21	.	75;211;211	Q86XP1-3;Q86XP1-2;Q86XP1	.;.;DGKH_HUMAN	L	211;211;211;75;75	ENSP00000440823:F211L;ENSP00000337572:F211L;ENSP00000261491:F211L;ENSP00000368576:F75L;ENSP00000445114:F75L	ENSP00000261491:F211L	F	+	3	2	DGKH	41631412	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	0.687000	0.25407	1.263000	0.44181	0.655000	0.94253	TTC	DGKH	-	pfam_Prot_Kinase_C-like_PE/DAG-bd,smart_Prot_Kinase_C-like_PE/DAG-bd,pfscan_Prot_Kinase_C-like_PE/DAG-bd		0.348	DGKH-004	KNOWN	basic|appris_principal|CCDS	protein_coding	DGKH	HGNC	protein_coding	OTTHUMT00000044699.2	C	NM_178009		42733412	+1	no_errors	ENST00000337343	ensembl	human	known	70_37	missense	SNP	1.000	G
DGKK	139189	genome.wustl.edu	37	X	50131536	50131536	+	RNA	SNP	G	G	A			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chrX:50131536G>A	ENST00000376025.2	-	0	2066							Q5KSL6	DGKK_HUMAN	diacylglycerol kinase, kappa						blood coagulation (GO:0007596)|diacylglycerol metabolic process (GO:0046339)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|response to oxidative stress (GO:0006979)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)			central_nervous_system(1)|endometrium(12)|kidney(4)|large_intestine(5)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Ovarian(276;0.236)					TGGTTGCGATGATCATCTCTG	0.522																																																	0													202.0	179.0	186.0					X																	50131536		1983	4139	6122			139189			AB183864	CCDS75980.1	Xp11.22	2006-02-08				ENSG00000274588			32395	protein-coding gene	gene with protein product		300837				16210324	Standard	NM_001013742		Approved		uc010njr.2	Q5KSL6			X.37:g.50131536G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	B2RP91	RNA	SNP	-	NULL	ENST00000376025.2	37	NULL		X																																																																																			DGKK	-	-		0.522	DGKK-001	KNOWN	basic	processed_transcript	DGKK	HGNC	processed_transcript	OTTHUMT00000368187.1	G	NM_001013742		50131536	-1	no_errors	ENST00000376025	ensembl	human	known	70_37	rna	SNP	0.213	A
DGKK	139189	genome.wustl.edu	37	X	50167247	50167247	+	RNA	SNP	G	G	A			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chrX:50167247G>A	ENST00000376025.2	-	0	814							Q5KSL6	DGKK_HUMAN	diacylglycerol kinase, kappa						blood coagulation (GO:0007596)|diacylglycerol metabolic process (GO:0046339)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|response to oxidative stress (GO:0006979)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)			central_nervous_system(1)|endometrium(12)|kidney(4)|large_intestine(5)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	Ovarian(276;0.236)					ATACATTACCGCGGGATGGTG	0.413																																																	0													124.0	109.0	113.0					X																	50167247		1876	4098	5974			139189			AB183864	CCDS75980.1	Xp11.22	2006-02-08				ENSG00000274588			32395	protein-coding gene	gene with protein product		300837				16210324	Standard	NM_001013742		Approved		uc010njr.2	Q5KSL6			X.37:g.50167247G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	B2RP91	RNA	SNP	-	NULL	ENST00000376025.2	37	NULL		X																																																																																			DGKK	-	-		0.413	DGKK-001	KNOWN	basic	processed_transcript	DGKK	HGNC	processed_transcript	OTTHUMT00000368187.1	G	NM_001013742		50167247	-1	no_errors	ENST00000376025	ensembl	human	known	70_37	rna	SNP	0.869	A
DGKZ	8525	genome.wustl.edu	37	11	46395776	46395776	+	Missense_Mutation	SNP	G	G	C			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr11:46395776G>C	ENST00000454345.1	+	16	2085	c.1960G>C	c.(1960-1962)Gag>Cag	p.E654Q	DGKZ_ENST00000456247.2_Missense_Mutation_p.E465Q|DGKZ_ENST00000543978.1_Intron|DGKZ_ENST00000532868.2_Missense_Mutation_p.E470Q|MIR4688_ENST00000577966.1_RNA|DGKZ_ENST00000318201.8_Missense_Mutation_p.E443Q|DGKZ_ENST00000528615.1_Missense_Mutation_p.E244Q|DGKZ_ENST00000395574.3_Missense_Mutation_p.E432Q|DGKZ_ENST00000343674.6_Missense_Mutation_p.E482Q|DGKZ_ENST00000421244.2_Missense_Mutation_p.E466Q|DGKZ_ENST00000527911.1_Missense_Mutation_p.E466Q	NM_001105540.1	NP_001099010.1	Q13574	DGKZ_HUMAN	diacylglycerol kinase, zeta	654					blood coagulation (GO:0007596)|cell migration (GO:0016477)|intracellular signal transduction (GO:0035556)|lipid phosphorylation (GO:0046834)|mitotic G1 DNA damage checkpoint (GO:0031571)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of Ras protein signal transduction (GO:0046580)|phosphorylation (GO:0016310)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)	cytoplasm (GO:0005737)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|enzyme inhibitor activity (GO:0004857)|lipid kinase activity (GO:0001727)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)|protein C-terminus binding (GO:0008022)			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(5)|lung(12)|pancreas(1)|prostate(1)|skin(1)	25				GBM - Glioblastoma multiforme(35;0.0259)|Lung(87;0.141)		GGAGTTCCACGAGTCTCGAGG	0.607																																																	0													80.0	71.0	74.0					11																	46395776		2202	4299	6501	SO:0001583	missense	8525			U51477	CCDS7918.1, CCDS41640.1, CCDS44579.1, CCDS44580.1, CCDS55757.1, CCDS55758.1, CCDS55759.1, CCDS44579.2	11p11.2	2010-11-24	2010-11-24		ENSG00000149091	ENSG00000149091	2.7.1.107		2857	protein-coding gene	gene with protein product		601441	"""diacylglycerol kinase, zeta 104kDa"""			8626588	Standard	NM_003646		Approved	DAGK5, hDGKzeta, DGK-ZETA, DAGK6	uc001ncn.1	Q13574	OTTHUMG00000166437	ENST00000454345.1:c.1960G>C	11.37:g.46395776G>C	ENSP00000412178:p.Glu654Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	B7Z2M9|B7Z6M3|E9PPW4|F6UCU9|G3V0F6|J3KNJ6|O00542|Q6ZVG7|Q8IVW9	Missense_Mutation	SNP	pfam_Diacylglycerol_kin_accessory,pfam_Diacylglycerol_kinase_cat_dom,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_Ankyrin_rpt-contain_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,smart_Diacylglycerol_kinase_cat_dom,smart_Diacylglycerol_kin_accessory,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.E654Q	ENST00000454345.1	37	c.1960	CCDS41640.1	11	.	.	.	.	.	.	.	.	.	.	G	26.0	4.692319	0.88735	.	.	ENSG00000149091	ENST00000343674;ENST00000528615;ENST00000395574;ENST00000532868;ENST00000527911;ENST00000456247;ENST00000421244;ENST00000318201;ENST00000454345	T;T;T;T;T;T;T;T;T	0.30981	1.51;1.51;1.51;1.51;1.51;1.51;1.51;1.51;1.51	4.31	4.31	0.51392	Diacylglycerol kinase, accessory domain (2);	0.000000	0.85682	D	0.000000	T	0.48822	0.1521	L	0.42245	1.32	0.80722	D	1	D;D;D;D;D;D;D;D;D	0.89917	0.997;0.979;1.0;1.0;0.994;0.993;1.0;1.0;0.989	D;P;D;D;D;D;D;D;D	0.87578	0.961;0.862;0.996;0.998;0.96;0.935;0.997;0.998;0.961	T	0.52593	-0.8555	10	0.66056	D	0.02	.	17.1569	0.86793	0.0:0.0:1.0:0.0	.	443;431;409;466;654;465;466;432;482	B7Z2M9;B7Z6M3;B7Z8F6;E9PPW4;Q13574;Q13574-2;G3V0F6;A8MVN1;Q6ZVG7	.;.;.;.;DGKZ_HUMAN;.;.;.;.	Q	482;244;432;431;466;465;466;443;654	ENSP00000343065:E482Q;ENSP00000434719:E244Q;ENSP00000378941:E432Q;ENSP00000436273:E431Q;ENSP00000436291:E466Q;ENSP00000395684:E465Q;ENSP00000391021:E466Q;ENSP00000320340:E443Q;ENSP00000412178:E654Q	ENSP00000320340:E443Q	E	+	1	0	DGKZ	46352352	1.000000	0.71417	0.992000	0.48379	0.805000	0.45488	9.869000	0.99810	2.128000	0.65567	0.561000	0.74099	GAG	DGKZ	-	pfam_Diacylglycerol_kin_accessory,smart_Diacylglycerol_kin_accessory		0.607	DGKZ-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DGKZ	HGNC	protein_coding	OTTHUMT00000389772.1	G	NM_001105540		46395776	+1	no_errors	ENST00000454345	ensembl	human	known	70_37	missense	SNP	1.000	C
DHRS4L2	317749	genome.wustl.edu	37	14	24458159	24458159	+	Start_Codon_SNP	SNP	G	G	A			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr14:24458159G>A	ENST00000335125.6	+	1	129	c.3G>A	c.(1-3)atG>atA	p.M1I	DHRS4L2_ENST00000545240.1_Start_Codon_SNP_p.M1I|DHRS4L2_ENST00000558753.1_Start_Codon_SNP_p.M1I|DHRS4L2_ENST00000382755.4_5'Flank|DHRS4L2_ENST00000397071.1_Start_Codon_SNP_p.M1I|DHRS4L2_ENST00000543805.1_Intron|DHRS4L2_ENST00000537912.1_Start_Codon_SNP_p.M1I|DHRS4L2_ENST00000534993.1_Intron	NM_198083.3	NP_932349.2	Q6PKH6	DR4L2_HUMAN	dehydrogenase/reductase (SDR family) member 4 like 2	0						extracellular region (GO:0005576)	oxidoreductase activity (GO:0016491)			breast(1)|endometrium(2)|kidney(1)|lung(2)|ovary(1)|skin(2)|stomach(1)	10				GBM - Glioblastoma multiforme(265;0.00962)		TCTGATCCATGCAGATGGCCA	0.657																																																	0													56.0	50.0	52.0					14																	24458159		2200	4300	6500	SO:0001582	initiator_codon_variant	317749				CCDS9606.2, CCDS73621.1	14q11.2	2011-09-14			ENSG00000187630	ENSG00000187630	1.1.-.-	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 1"""	19731	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 25C, member 3"""	615196					Standard	NM_001193635		Approved	SDR25C3	uc001wlf.3	Q6PKH6	OTTHUMG00000028778	ENST00000335125.6:c.3G>A	14.37:g.24458159G>A	ENSP00000334801:p.Met1Ile	Somatic		WXS	Illumina HiSeq	Phase_IV	Q3YLD4	Missense_Mutation	SNP	pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,prints_Glc/ribitol_DH,prints_DH_sc/Rdtase_SDR	p.M1I	ENST00000335125.6	37	c.3	CCDS9606.2	14	.	.	.	.	.	.	.	.	.	.	G	12.29	1.892559	0.33442	.	.	ENSG00000187630	ENST00000397071;ENST00000335125;ENST00000537912;ENST00000545240	T;T;T;T	0.81415	1.87;-1.49;1.99;2.64	2.83	2.83	0.33086	.	2.539230	0.01746	N	0.029675	D	0.84129	0.5404	.	.	.	0.40671	D	0.982219	.	.	.	.	.	.	T	0.74051	-0.3789	7	0.87932	D	0	.	9.2185	0.37362	0.0:0.0:1.0:0.0	.	.	.	.	I	1	ENSP00000380261:M1I;ENSP00000334801:M1I;ENSP00000439942:M1I;ENSP00000437883:M1I	ENSP00000334801:M1I	M	+	3	0	DHRS4L2	23527999	0.996000	0.38824	0.051000	0.19133	0.011000	0.07611	2.628000	0.46477	1.572000	0.49736	0.411000	0.27672	ATG	DHRS4L2	-	NULL		0.657	DHRS4L2-001	KNOWN	basic|CCDS	protein_coding	DHRS4L2	HGNC	protein_coding	OTTHUMT00000071858.4	G		Missense_Mutation	24458159	+1	no_errors	ENST00000335125	ensembl	human	known	70_37	missense	SNP	0.147	A
DHX15	1665	genome.wustl.edu	37	4	24534694	24534694	+	Intron	SNP	C	C	T			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr4:24534694C>T	ENST00000336812.4	-	12	2066				DHX15_ENST00000508032.1_Intron	NM_001358.2	NP_001349.2	O43143	DHX15_HUMAN	DEAH (Asp-Glu-Ala-His) box helicase 15						mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)|U12-type spliceosomal complex (GO:0005689)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)|RNA helicase activity (GO:0003724)			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	30		Breast(46;0.0503)				AGGTAGAAGGCGGGGAGAAAA	0.388																																																	0													93.0	101.0	98.0					4																	24534694		2203	4300	6503	SO:0001627	intron_variant	1665			AB001636	CCDS33966.1	4p15.3	2013-05-13	2013-05-13	2003-06-20	ENSG00000109606	ENSG00000109606		"""DEAH-boxes"""	2738	protein-coding gene	gene with protein product		603403	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 15"", ""DEAH (Asp-Glu-Ala-His) box polypeptide 15"""	DDX15		9388478	Standard	NM_001358		Approved	HRH2, DBP1, PRP43, PrPp43p, PRPF43	uc003gqx.3	O43143	OTTHUMG00000160304	ENST00000336812.4:c.1910-17G>A	4.37:g.24534694C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q9NQT7	RNA	SNP	-	NULL	ENST00000336812.4	37	NULL	CCDS33966.1	4																																																																																			DHX15	-	-		0.388	DHX15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DHX15	HGNC	protein_coding	OTTHUMT00000360143.1	C	NM_001358		24534694	-1	no_errors	ENST00000512903	ensembl	human	known	70_37	rna	SNP	0.000	T
DHX38	9785	genome.wustl.edu	37	16	72142801	72142801	+	Missense_Mutation	SNP	C	C	T			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr16:72142801C>T	ENST00000268482.3	+	24	3867	c.3358C>T	c.(3358-3360)Cac>Tac	p.H1120Y	DHX38_ENST00000536867.1_Missense_Mutation_p.H432Y	NM_014003.3	NP_054722.2	Q92620	PRP16_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 38	1120					gene expression (GO:0010467)|mRNA 3'-end processing (GO:0031124)|mRNA export from nucleus (GO:0006406)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)			endometrium(5)|kidney(1)|large_intestine(16)|lung(15)|pancreas(1)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)	48		Ovarian(137;0.125)				CATAGTGTATCACGAGTTGGT	0.542																																					Melanoma(97;711 1442 7855 13832 28836)												0													78.0	64.0	69.0					16																	72142801		2198	4300	6498	SO:0001583	missense	9785			AF038391	CCDS10907.1	16q22	2008-02-05	2003-06-13	2003-06-20	ENSG00000140829	ENSG00000140829		"""DEAH-boxes"""	17211	protein-coding gene	gene with protein product		605584	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 38"""	DDX38		9524131, 9039502	Standard	NM_014003		Approved	PRP16, KIAA0224, hPrp16, PRPF16	uc002fcb.3	Q92620	OTTHUMG00000137596	ENST00000268482.3:c.3358C>T	16.37:g.72142801C>T	ENSP00000268482:p.His1120Tyr	Somatic		WXS	Illumina HiSeq	Phase_IV	B4DVG8|D3DWS7|O75212|Q96HN7	Missense_Mutation	SNP	pfam_Helicase-assoc_dom,pfam_DUF1605,pfam_Helicase_C,pfam_DNA/RNA_helicase_DEAD/DEAH_N,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Helicase-assoc_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.H1120Y	ENST00000268482.3	37	c.3358	CCDS10907.1	16	.	.	.	.	.	.	.	.	.	.	C	28.5	4.922424	0.92319	.	.	ENSG00000140829	ENST00000268482;ENST00000536867	T;T	0.02656	4.21;4.21	5.14	5.14	0.70334	Domain of unknown function DUF1605 (1);	0.000000	0.85682	D	0.000000	T	0.22126	0.0533	M	0.91972	3.26	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.998	T	0.02683	-1.1124	10	0.52906	T	0.07	.	18.8078	0.92045	0.0:1.0:0.0:0.0	.	432;1120	B4DVG8;Q92620	.;PRP16_HUMAN	Y	1120;432	ENSP00000268482:H1120Y;ENSP00000437898:H432Y	ENSP00000268482:H1120Y	H	+	1	0	DHX38	70700302	1.000000	0.71417	0.989000	0.46669	0.996000	0.88848	7.097000	0.76967	2.677000	0.91161	0.655000	0.94253	CAC	DHX38	-	pfam_DUF1605		0.542	DHX38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DHX38	HGNC	protein_coding	OTTHUMT00000269004.3	C	NM_014003		72142801	+1	no_errors	ENST00000268482	ensembl	human	known	70_37	missense	SNP	1.000	T
DIAPH2	1730	genome.wustl.edu	37	X	96200544	96200544	+	Missense_Mutation	SNP	C	C	T			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chrX:96200544C>T	ENST00000324765.8	+	14	1810	c.1463C>T	c.(1462-1464)gCg>gTg	p.A488V	DIAPH2_ENST00000373049.4_Missense_Mutation_p.A488V|DIAPH2_ENST00000373054.4_Missense_Mutation_p.A484V|DIAPH2_ENST00000355827.4_Missense_Mutation_p.A488V|DIAPH2_ENST00000373061.3_Missense_Mutation_p.A488V			O60879	DIAP2_HUMAN	diaphanous-related formin 2	488					actin filament polymerization (GO:0030041)|cytokinesis (GO:0000910)|female gamete generation (GO:0007292)|multicellular organismal development (GO:0007275)|oogenesis (GO:0048477)	endosome (GO:0005768)	receptor binding (GO:0005102)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	51						GTGAACAAGGCGAAAGTTGAA	0.328																																																	0													71.0	67.0	68.0					X																	96200544		2203	4299	6502	SO:0001583	missense	1730			Y15909	CCDS14467.1, CCDS14468.1	Xq22	2013-05-24	2013-05-24		ENSG00000147202	ENSG00000147202			2877	protein-coding gene	gene with protein product		300108	"""diaphanous (Drosophila, homolog) 2"", ""diaphanous homolog 2 (Drosophila)"""			9360932	Standard	NM_006729		Approved	POF, DIA, POF2, DIA2	uc004efu.4	O60879	OTTHUMG00000022689	ENST00000324765.8:c.1463C>T	X.37:g.96200544C>T	ENSP00000321348:p.Ala488Val	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NG19|O60878|Q8WX06|Q8WX48|Q9UJL2	Missense_Mutation	SNP	pfam_FH2_actin-bd,pfam_Drf_FH3,pfam_Drf_GTPase-bd,pfam_Drf_DAD,superfamily_ARM-type_fold,superfamily_FH2_actin-bd,smart_Actin-bd_FH2/DRF_autoreg	p.A488V	ENST00000324765.8	37	c.1463	CCDS14467.1	X	.	.	.	.	.	.	.	.	.	.	C	19.44	3.827939	0.71143	.	.	ENSG00000147202	ENST00000373061;ENST00000373054;ENST00000355827;ENST00000373049;ENST00000324765;ENST00000537885	D;D;D;D;D	0.82803	-1.64;-1.64;-1.58;-1.58;-1.65	5.38	5.38	0.77491	.	0.137401	0.48286	D	0.000184	D	0.89543	0.6745	M	0.86864	2.845	0.43300	D	0.99529	P;D	0.67145	0.898;0.996	B;P	0.52823	0.356;0.71	D	0.90888	0.4759	10	0.52906	T	0.07	.	16.8663	0.86029	0.0:1.0:0.0:0.0	.	488;488	O60879;O60879-2	DIAP2_HUMAN;.	V	488;484;488;488;488;495	ENSP00000362152:A488V;ENSP00000362145:A484V;ENSP00000348082:A488V;ENSP00000362140:A488V;ENSP00000321348:A488V	ENSP00000321348:A488V	A	+	2	0	DIAPH2	96087200	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	6.338000	0.72963	2.382000	0.81193	0.600000	0.82982	GCG	DIAPH2	-	NULL		0.328	DIAPH2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DIAPH2	HGNC	protein_coding	OTTHUMT00000058871.2	C	NM_006729, NM_007309		96200544	+1	no_errors	ENST00000324765	ensembl	human	known	70_37	missense	SNP	1.000	T
DIAPH3	81624	genome.wustl.edu	37	13	60453485	60453485	+	Missense_Mutation	SNP	C	C	G			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr13:60453485C>G	ENST00000400324.4	-	21	2705	c.2485G>C	c.(2485-2487)Gag>Cag	p.E829Q	DIAPH3_ENST00000377908.2_Missense_Mutation_p.E818Q|DIAPH3_ENST00000267215.4_Missense_Mutation_p.E829Q|DIAPH3_ENST00000400330.1_Missense_Mutation_p.E829Q|DIAPH3_ENST00000465066.1_5'UTR|DIAPH3_ENST00000400320.1_Missense_Mutation_p.E783Q|DIAPH3_ENST00000400319.1_Missense_Mutation_p.E759Q	NM_001042517.1|NM_001258366.1	NP_001035982.1|NP_001245295.1	Q9NSV4	DIAP3_HUMAN	diaphanous-related formin 3	829	FH2. {ECO:0000255|PROSITE- ProRule:PRU00774}.				actin cytoskeleton organization (GO:0030036)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|liver(1)|lung(20)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46		Breast(118;0.052)|Prostate(109;0.103)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;2.77e-05)		TTCTTTATCTCTTCGCAGGCA	0.453																																																	0													110.0	104.0	106.0					13																	60453485		1900	4121	6021	SO:0001583	missense	81624			AL137718	CCDS41898.1, CCDS58294.1, CCDS58295.1, CCDS58296.1, CCDS58297.1, CCDS73579.1, CCDS73580.1	13q21.2	2013-05-24	2013-05-24		ENSG00000139734	ENSG00000139734			15480	protein-coding gene	gene with protein product		614567	"""diaphanous (Drosophila, homolog) 3"", ""auditory neuropathy, autosomal dominant 1"", ""diaphanous homolog 3 (Drosophila)"""	AUNA1		14767582, 20624953	Standard	NM_030932		Approved	DRF3, FLJ34705, AN, NSDAN	uc001vht.4	Q9NSV4	OTTHUMG00000017004	ENST00000400324.4:c.2485G>C	13.37:g.60453485C>G	ENSP00000383178:p.Glu829Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	A2A3B8|A2A3B9|A2A3C0|Q18P99|Q18PA0|Q18PA1|Q2KPB6|Q3ZK23|Q5JTP8|Q5T2S7|Q5XKF6|Q6MZF0|Q6NUP0|Q86VS4|Q8NAV4	Missense_Mutation	SNP	pfam_FH2_actin-bd,pfam_Drf_FH3,pfam_Drf_GTPase-bd,pfam_Drf_DAD,superfamily_FH2_actin-bd,superfamily_ARM-type_fold,smart_Actin-bd_FH2/DRF_autoreg	p.E829Q	ENST00000400324.4	37	c.2485	CCDS41898.1	13	.	.	.	.	.	.	.	.	.	.	C	18.96	3.734062	0.69189	.	.	ENSG00000139734	ENST00000400324;ENST00000400330;ENST00000400327;ENST00000413168;ENST00000400329;ENST00000377908;ENST00000400319;ENST00000400320;ENST00000267215;ENST00000267214;ENST00000453990	T;T;T;T;T;T	0.20598	2.06;2.06;2.06;2.06;2.06;2.06	5.97	4.21	0.49690	Actin-binding FH2/DRF autoregulatory (1);Actin-binding FH2 (3);	0.000000	0.85682	D	0.000000	T	0.32346	0.0826	M	0.76938	2.355	0.47511	D	0.999446	B;P;P	0.52577	0.442;0.845;0.954	B;B;P	0.46758	0.086;0.385;0.526	T	0.30119	-0.9989	10	0.87932	D	0	.	12.2954	0.54842	0.0:0.8162:0.1187:0.065	.	566;566;829	Q9NSV4-2;Q9NSV4-1;Q9NSV4	.;.;DIAP3_HUMAN	Q	829;829;818;783;759;818;759;783;829;566;829	ENSP00000383178:E829Q;ENSP00000383184:E829Q;ENSP00000367141:E818Q;ENSP00000383173:E759Q;ENSP00000383174:E783Q;ENSP00000267215:E829Q	ENSP00000267214:E566Q	E	-	1	0	DIAPH3	59351486	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	3.314000	0.51943	1.511000	0.48818	0.585000	0.79938	GAG	DIAPH3	-	pfam_FH2_actin-bd,superfamily_FH2_actin-bd,smart_Actin-bd_FH2/DRF_autoreg		0.453	DIAPH3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DIAPH3	HGNC	protein_coding	OTTHUMT00000045166.3	C	NM_001042517		60453485	-1	no_errors	ENST00000400324	ensembl	human	known	70_37	missense	SNP	1.000	G
DIRC2	84925	genome.wustl.edu	37	3	122564695	122564695	+	Missense_Mutation	SNP	T	T	G			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr3:122564695T>G	ENST00000261038.5	+	5	1317	c.919T>G	c.(919-921)Tta>Gta	p.L307V		NM_032839.2	NP_116228.1	Q96SL1	DIRC2_HUMAN	disrupted in renal carcinoma 2	307					transport (GO:0006810)	integral component of membrane (GO:0016021)|lysosome (GO:0005764)				endometrium(2)|large_intestine(1)|lung(14)|prostate(1)	18				GBM - Glioblastoma multiforme(114;0.0614)		GGACTTAATTTTAACACCAGC	0.338																																																	0													103.0	91.0	95.0					3																	122564695		2203	4300	6503	SO:0001583	missense	84925			AK027690	CCDS3018.1	3q21.1	2013-05-22			ENSG00000138463	ENSG00000138463		"""Solute carriers"""	16628	protein-coding gene	gene with protein product	"""renal cell carcinoma 4"", ""disrupted in renal cancer protein 2"""	602773				11912179	Standard	NM_032839		Approved	FLJ14784, RCC4	uc003efw.4	Q96SL1	OTTHUMG00000159553	ENST00000261038.5:c.919T>G	3.37:g.122564695T>G	ENSP00000261038:p.Leu307Val	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K561|Q8NBX9	Missense_Mutation	SNP	superfamily_MFS_dom_general_subst_transpt	p.L307V	ENST00000261038.5	37	c.919	CCDS3018.1	3	.	.	.	.	.	.	.	.	.	.	T	18.37	3.609385	0.66558	.	.	ENSG00000138463	ENST00000261038	T	0.63580	-0.05	5.38	3.04	0.35103	Major facilitator superfamily domain, general substrate transporter (1);	0.000000	0.85682	D	0.000000	T	0.61286	0.2335	L	0.48935	1.535	0.48395	D	0.99964	D	0.54207	0.965	P	0.53062	0.717	T	0.59757	-0.7394	10	0.49607	T	0.09	.	7.0688	0.25167	0.0:0.1796:0.0:0.8204	.	307	Q96SL1	DIRC2_HUMAN	V	307	ENSP00000261038:L307V	ENSP00000261038:L307V	L	+	1	2	DIRC2	124047385	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	2.198000	0.42705	0.890000	0.36211	0.528000	0.53228	TTA	DIRC2	-	superfamily_MFS_dom_general_subst_transpt		0.338	DIRC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DIRC2	HGNC	protein_coding	OTTHUMT00000356180.2	T	NM_032839		122564695	+1	no_errors	ENST00000261038	ensembl	human	known	70_37	missense	SNP	1.000	G
DIS3L	115752	genome.wustl.edu	37	15	66612937	66612937	+	Missense_Mutation	SNP	C	C	T			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr15:66612937C>T	ENST00000319212.4	+	9	1243	c.1193C>T	c.(1192-1194)tCc>tTc	p.S398F	DIS3L_ENST00000441424.2_Silent_p.F207F|DIS3L_ENST00000319194.5_Missense_Mutation_p.S315F|RP11-352G18.2_ENST00000565993.1_RNA	NM_001143688.1	NP_001137160.1	Q8TF46	DI3L1_HUMAN	DIS3 like exosome 3'-5' exoribonuclease	398					RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|rRNA catabolic process (GO:0016075)	cytoplasmic exosome (RNase complex) (GO:0000177)	3'-5'-exoribonuclease activity (GO:0000175)|enzyme binding (GO:0019899)|RNA binding (GO:0003723)			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	33						CGCATCGATTCCTGGGAGTCA	0.453																																																	0													147.0	133.0	138.0					15																	66612937		2201	4299	6500	SO:0001583	missense	115752				CCDS10214.1, CCDS45286.1	15q22.31	2014-03-05	2014-03-05		ENSG00000166938	ENSG00000166938			28698	protein-coding gene	gene with protein product		614183	"""DIS3 mitotic control homolog (S. cerevisiae)-like"""			20531386	Standard	NM_001143688		Approved	MGC4562, FLJ38088, KIAA1955, DIS3L1	uc010ujm.2	Q8TF46	OTTHUMG00000133181	ENST00000319212.4:c.1193C>T	15.37:g.66612937C>T	ENSP00000321711:p.Ser398Phe	Somatic		WXS	Illumina HiSeq	Phase_IV	Q8N1N8|Q8WTU9|Q96CM7	Missense_Mutation	SNP	pfam_RNase_II/R,smart_RNase_II/R	p.S398F	ENST00000319212.4	37	c.1193	CCDS45286.1	15	.	.	.	.	.	.	.	.	.	.	C	25.9	4.688074	0.88639	.	.	ENSG00000166938	ENST00000319194;ENST00000319212	T;T	0.33654	1.4;1.4	5.11	4.17	0.49024	.	0.212425	0.51477	D	0.000085	T	0.57975	0.2090	M	0.73430	2.235	0.80722	D	1	B;D;D	0.62365	0.44;0.991;0.991	B;P;D	0.64595	0.118;0.893;0.927	T	0.63699	-0.6578	10	0.72032	D	0.01	-10.922	14.5487	0.68050	0.0:0.8527:0.1473:0.0	.	398;264;398	Q8TF46;Q8TF46-2;Q8TF46-3	DI3L1_HUMAN;.;.	F	315;398	ENSP00000321583:S315F;ENSP00000321711:S398F	ENSP00000321583:S315F	S	+	2	0	DIS3L	64399991	1.000000	0.71417	0.999000	0.59377	0.972000	0.66771	7.599000	0.82757	1.113000	0.41760	0.561000	0.74099	TCC	DIS3L	-	NULL		0.453	DIS3L-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DIS3L	HGNC	protein_coding	OTTHUMT00000382792.2	C	NM_133375		66612937	+1	no_errors	ENST00000319212	ensembl	human	known	70_37	missense	SNP	1.000	T
DLGAP1	9229	genome.wustl.edu	37	18	3534369	3534369	+	Missense_Mutation	SNP	G	G	T			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr18:3534369G>T	ENST00000315677.3	-	10	2897	c.2302C>A	c.(2302-2304)Cct>Act	p.P768T	DLGAP1_ENST00000581527.1_Missense_Mutation_p.P768T|DLGAP1_ENST00000539435.1_Missense_Mutation_p.P476T|DLGAP1_ENST00000515196.2_Missense_Mutation_p.P768T|DLGAP1_ENST00000581699.1_Missense_Mutation_p.P474T|DLGAP1_ENST00000400149.3_Missense_Mutation_p.P458T|DLGAP1_ENST00000400145.2_Missense_Mutation_p.P466T|DLGAP1_ENST00000584874.1_Missense_Mutation_p.P768T|DLGAP1_ENST00000534970.1_Missense_Mutation_p.P452T|DLGAP1_ENST00000400150.3_Missense_Mutation_p.P484T|DLGAP1_ENST00000400147.2_Missense_Mutation_p.P466T|DLGAP1_ENST00000400155.1_Missense_Mutation_p.P474T	NM_004746.3	NP_004737.2	O14490	DLGP1_HUMAN	discs, large (Drosophila) homolog-associated protein 1	768					synaptic transmission (GO:0007268)	cell junction (GO:0030054)|neuronal postsynaptic density (GO:0097481)|postsynaptic membrane (GO:0045211)				breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	56		Colorectal(8;0.0257)				GGGTCCGGAGGAGGCAGAATA	0.562																																																	0													90.0	76.0	81.0					18																	3534369		2203	4300	6503	SO:0001583	missense	9229			AB000277	CCDS11836.1, CCDS42406.1, CCDS56049.1, CCDS56050.1, CCDS56051.1, CCDS56052.1, CCDS56053.1, CCDS74191.1	18p11.3	2008-07-28	2001-11-28		ENSG00000170579	ENSG00000170579			2905	protein-coding gene	gene with protein product		605445	"""discs, large (Drosophila) homolog-associated protein 1"""			9024696, 9286858	Standard	NM_004746		Approved	GKAP, SAPAP1, DAP-1	uc002kmf.3	O14490	OTTHUMG00000131537	ENST00000315677.3:c.2302C>A	18.37:g.3534369G>T	ENSP00000316377:p.Pro768Thr	Somatic		WXS	Illumina HiSeq	Phase_IV	A8MWN8|B2RMU8|B7WPA1|B7Z2H2|B7Z2I2|B7Z9Y4|O14489|P78335	Missense_Mutation	SNP	pfam_GKAP	p.P768T	ENST00000315677.3	37	c.2302	CCDS11836.1	18	.	.	.	.	.	.	.	.	.	.	G	20.2	3.942523	0.73672	.	.	ENSG00000170579	ENST00000315677;ENST00000400147;ENST00000400150;ENST00000400149;ENST00000400155;ENST00000534970;ENST00000539435;ENST00000400145;ENST00000515196	T;T;T;T;T;T;T;T;T	0.51325	0.71;0.71;0.71;0.71;0.71;0.71;0.71;0.71;0.71	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	T	0.73024	0.3534	M	0.81112	2.525	0.80722	D	1	D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D	0.91635	0.999;0.999;0.998;0.999;0.998;0.999;0.998;0.996	T	0.74612	-0.3607	10	0.72032	D	0.01	-20.316	20.3311	0.98718	0.0:0.0:1.0:0.0	.	768;452;464;474;476;466;768;466	B7Z9Y4;B7Z2H2;B7Z2J5;A8MWN8;B7Z2I2;O14490-3;O14490;O14490-2	.;.;.;.;.;.;DLGP1_HUMAN;.	T	768;466;484;458;474;452;476;466;768	ENSP00000316377:P768T;ENSP00000383011:P466T;ENSP00000383014:P484T;ENSP00000383013:P458T;ENSP00000383019:P474T;ENSP00000437817:P452T;ENSP00000446312:P476T;ENSP00000383010:P466T;ENSP00000445973:P768T	ENSP00000316377:P768T	P	-	1	0	DLGAP1	3524369	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.476000	0.97823	2.797000	0.96272	0.655000	0.94253	CCT	DLGAP1	-	pfam_GKAP		0.562	DLGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DLGAP1	HGNC	protein_coding	OTTHUMT00000254394.4	G			3534369	-1	no_errors	ENST00000315677	ensembl	human	known	70_37	missense	SNP	1.000	T
DMKN	93099	genome.wustl.edu	37	19	35990937	35990937	+	Intron	SNP	G	G	A			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr19:35990937G>A	ENST00000339686.3	-	13	1464				DMKN_ENST00000408915.2_Intron|DMKN_ENST00000414866.2_Intron|DMKN_ENST00000443640.1_Intron|DMKN_ENST00000402589.2_Intron|DMKN_ENST00000419602.1_Intron|DMKN_ENST00000492341.2_Intron|DMKN_ENST00000429837.1_Intron|DMKN_ENST00000480502.1_Intron|DMKN_ENST00000602781.1_Intron|DMKN_ENST00000472252.2_Intron|DMKN_ENST00000436012.1_Intron|DMKN_ENST00000462126.1_Intron|DMKN_ENST00000467637.1_Intron	NM_033317.4	NP_201574	Q6E0U4	DMKN_HUMAN	dermokine							extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(7)|ovary(1)|prostate(1)|skin(2)	27	all_lung(56;1.89e-08)|Lung NSC(56;2.9e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			TAGTTCTGTGGAAGAAGTGGG	0.522																																																	0													192.0	165.0	174.0					19																	35990937		2203	4300	6503	SO:0001627	intron_variant	93099			BC035311	CCDS12463.1, CCDS42549.1, CCDS46051.1, CCDS46052.1, CCDS46053.1, CCDS46054.1, CCDS46054.2, CCDS54250.1, CCDS54251.1, CCDS54252.1	19q13.12	2008-10-27			ENSG00000161249	ENSG00000161249			25063	protein-coding gene	gene with protein product						16374476	Standard	NM_001035516		Approved	ZD52F10	uc002nzm.4	Q6E0U4	OTTHUMG00000048101	ENST00000339686.3:c.1288-6C>T	19.37:g.35990937G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	A3EZ79|A3EZ80|A3EZ81|A3EZ82|A3EZ83|C9J4P6|C9J5N8|C9JAL3|Q32W58|Q32W62|Q32W63|Q32W64|Q32W65|Q32W66|Q32W67|Q6E0U5|Q6UXC7|Q96EW8|Q9BSY6	RNA	SNP	-	NULL	ENST00000339686.3	37	NULL	CCDS12463.1	19																																																																																			DMKN	-	-		0.522	DMKN-001	KNOWN	basic|CCDS	protein_coding	DMKN	HGNC	protein_coding	OTTHUMT00000109461.2	G	NM_033317		35990937	-1	no_errors	ENST00000469960	ensembl	human	known	70_37	rna	SNP	0.000	A
DMRT1	1761	genome.wustl.edu	37	9	968024	968024	+	Missense_Mutation	SNP	C	C	T			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr9:968024C>T	ENST00000382276.3	+	5	1156	c.1007C>T	c.(1006-1008)tCc>tTc	p.S336F	DMRT1_ENST00000569227.1_Missense_Mutation_p.S178F	NM_021951.2	NP_068770.2	Q9Y5R6	DMRT1_HUMAN	doublesex and mab-3 related transcription factor 1	336	Pro/Ser-rich.				cell morphogenesis (GO:0000902)|germ cell migration (GO:0008354)|intracellular signal transduction (GO:0035556)|male germ cell proliferation (GO:0002176)|male sex determination (GO:0030238)|male sex differentiation (GO:0046661)|negative regulation of meiosis (GO:0045835)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|oocyte development (GO:0048599)|positive regulation of male gonad development (GO:2000020)|positive regulation of meiosis I (GO:0060903)|positive regulation of mitosis (GO:0045840)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of nodal signaling pathway (GO:1900107)|Sertoli cell development (GO:0060009)|Sertoli cell differentiation (GO:0060008)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			large_intestine(2)|lung(10)|ovary(1)	13		all_lung(10;2.66e-10)|Lung NSC(10;2.82e-10)|Breast(48;0.232)		Lung(218;0.037)		GGCTTGGTTTCCCTCTCGAGC	0.517																																																	0													64.0	61.0	62.0					9																	968024		2203	4300	6503	SO:0001583	missense	1761			AF130728	CCDS6442.1	9p24.3	2014-01-21			ENSG00000137090	ENSG00000137090			2934	protein-coding gene	gene with protein product	"""DM domain expressed in testis 1"""	602424				9490411, 10332030	Standard	XM_006716732		Approved	DMT1, CT154	uc003zgv.3	Q9Y5R6	OTTHUMG00000019435	ENST00000382276.3:c.1007C>T	9.37:g.968024C>T	ENSP00000371711:p.Ser336Phe	Somatic		WXS	Illumina HiSeq	Phase_IV	B2R913|Q6T1H8|Q6T1H9|Q8IW77	Missense_Mutation	SNP	pfam_DM_DNA-bd,pfam_DMRT1-like,superfamily_DM_DNA-bd,smart_DM_DNA-bd,pfscan_DM_DNA-bd	p.S336F	ENST00000382276.3	37	c.1007	CCDS6442.1	9	.	.	.	.	.	.	.	.	.	.	C	16.88	3.244243	0.59103	.	.	ENSG00000137090	ENST00000382276	T	0.21191	2.02	5.49	5.49	0.81192	.	0.325600	0.32819	N	0.005618	T	0.42063	0.1186	L	0.56769	1.78	0.48395	D	0.999642	D	0.76494	0.999	D	0.66196	0.942	T	0.10314	-1.0635	10	0.56958	D	0.05	.	16.2543	0.82503	0.0:0.8587:0.1413:0.0	.	336	Q9Y5R6	DMRT1_HUMAN	F	336	ENSP00000371711:S336F	ENSP00000371711:S336F	S	+	2	0	DMRT1	958024	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.595000	0.54016	2.746000	0.94184	0.655000	0.94253	TCC	DMRT1	-	NULL		0.517	DMRT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DMRT1	HGNC	protein_coding	OTTHUMT00000051489.2	C	NM_021951		968024	+1	no_errors	ENST00000382276	ensembl	human	known	70_37	missense	SNP	1.000	T
DMXL1	1657	genome.wustl.edu	37	5	118506868	118506868	+	Missense_Mutation	SNP	T	T	C			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr5:118506868T>C	ENST00000311085.8	+	24	6462	c.6382T>C	c.(6382-6384)Tca>Cca	p.S2128P	DMXL1_ENST00000539542.1_Missense_Mutation_p.S2128P	NM_005509.4	NP_005500.4	Q9Y485	DMXL1_HUMAN	Dmx-like 1	2128										breast(3)|central_nervous_system(1)|endometrium(14)|kidney(4)|large_intestine(20)|liver(6)|lung(28)|ovary(2)|prostate(5)|skin(2)|upper_aerodigestive_tract(1)	86		all_cancers(142;0.0314)|all_epithelial(76;0.00559)|Prostate(80;0.11)|Breast(839;0.231)		OV - Ovarian serous cystadenocarcinoma(64;0.000563)|Epithelial(69;0.00179)|all cancers(49;0.0243)		GAAGTATCAGTCACTTTTGAG	0.378																																																	0													78.0	80.0	80.0					5																	118506868		2202	4300	6502	SO:0001583	missense	1657			AJ005821	CCDS4125.1, CCDS75289.1	5q22	2013-01-10			ENSG00000172869	ENSG00000172869		"""WD repeat domain containing"""	2937	protein-coding gene	gene with protein product		605671				10708522	Standard	NM_005509		Approved		uc003ksd.2	Q9Y485	OTTHUMG00000128898	ENST00000311085.8:c.6382T>C	5.37:g.118506868T>C	ENSP00000309690:p.Ser2128Pro	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_Rav1p_C,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.S2128P	ENST00000311085.8	37	c.6382	CCDS4125.1	5	.	.	.	.	.	.	.	.	.	.	T	11.29	1.594557	0.28445	.	.	ENSG00000172869	ENST00000311085;ENST00000539542	T;T	0.78246	-1.16;-1.16	5.5	5.5	0.81552	.	0.054172	0.85682	D	0.000000	T	0.68668	0.3026	L	0.31294	0.92	0.52099	D	0.999948	B;B	0.19200	0.034;0.011	B;B	0.18871	0.023;0.007	T	0.63976	-0.6515	10	0.35671	T	0.21	-14.3666	15.6222	0.76816	0.0:0.0:0.0:1.0	.	2128;2128	F5H269;Q9Y485	.;DMXL1_HUMAN	P	2128	ENSP00000309690:S2128P;ENSP00000439479:S2128P	ENSP00000309690:S2128P	S	+	1	0	DMXL1	118534767	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.970000	0.63742	2.087000	0.62958	0.460000	0.39030	TCA	DMXL1	-	NULL		0.378	DMXL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DMXL1	HGNC	protein_coding	OTTHUMT00000250862.1	T	NM_005509		118506868	+1	no_errors	ENST00000539542	ensembl	human	known	70_37	missense	SNP	1.000	C
DMXL2	23312	genome.wustl.edu	37	15	51828558	51828558	+	Missense_Mutation	SNP	G	G	C			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr15:51828558G>C	ENST00000251076.5	-	12	2406	c.2119C>G	c.(2119-2121)Ctt>Gtt	p.L707V	DMXL2_ENST00000543779.2_Missense_Mutation_p.L707V|DMXL2_ENST00000449909.3_Missense_Mutation_p.L707V	NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2	707						cell junction (GO:0030054)|extracellular space (GO:0005615)|membrane (GO:0016020)|synaptic vesicle (GO:0008021)	Rab GTPase binding (GO:0017137)			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101				all cancers(107;0.00494)		GCATTTCTAAGAGGTTGTTTC	0.388																																																	0													191.0	189.0	190.0					15																	51828558		2195	4291	6486	SO:0001583	missense	23312			AB020663	CCDS10141.1, CCDS53945.1, CCDS53946.1	15q21.2	2013-01-10			ENSG00000104093	ENSG00000104093		"""WD repeat domain containing"""	2938	protein-coding gene	gene with protein product	"""rabconnectin 3"""	612186					Standard	NM_001174116		Approved	RC3, KIAA0856	uc010ufy.2	Q8TDJ6	OTTHUMG00000131749	ENST00000251076.5:c.2119C>G	15.37:g.51828558G>C	ENSP00000251076:p.Leu707Val	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RTR3|B7ZMH3|F5GWF1|O94938	Missense_Mutation	SNP	pfam_Rav1p_C,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.L707V	ENST00000251076.5	37	c.2119	CCDS10141.1	15	.	.	.	.	.	.	.	.	.	.	G	10.50	1.368912	0.24771	.	.	ENSG00000104093	ENST00000251076;ENST00000543779;ENST00000449909	T;T;T	0.23950	2.03;2.03;1.88	5.39	4.48	0.54585	.	0.056975	0.64402	D	0.000001	T	0.18467	0.0443	L	0.40543	1.245	0.23510	N	0.997521	P;P;P	0.47762	0.783;0.734;0.9	B;B;B	0.39706	0.307;0.138;0.266	T	0.10337	-1.0634	10	0.16420	T	0.52	.	10.3408	0.43877	0.15:0.0:0.85:0.0	.	707;707;707	F5GWF1;B2RTR3;Q8TDJ6	.;.;DMXL2_HUMAN	V	707	ENSP00000251076:L707V;ENSP00000441858:L707V;ENSP00000400855:L707V	ENSP00000251076:L707V	L	-	1	0	DMXL2	49615850	0.996000	0.38824	0.492000	0.27490	0.983000	0.72400	2.451000	0.44952	1.269000	0.44280	0.655000	0.94253	CTT	DMXL2	-	NULL		0.388	DMXL2-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	DMXL2	HGNC	protein_coding	OTTHUMT00000254671.2	G	NM_015263		51828558	-1	no_errors	ENST00000543779	ensembl	human	known	70_37	missense	SNP	0.986	C
DNAH11	8701	genome.wustl.edu	37	7	21744077	21744077	+	Missense_Mutation	SNP	T	T	G			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr7:21744077T>G	ENST00000409508.3	+	38	6330	c.6299T>G	c.(6298-6300)tTc>tGc	p.F2100C	DNAH11_ENST00000328843.6_Missense_Mutation_p.F2107C	NM_001277115.1	NP_001264044.1	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	2107					microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						TTAAGGGATTTCAATATGCCC	0.423									Kartagener syndrome																																								0													61.0	60.0	61.0					7																	21744077		1910	4115	6025	SO:0001583	missense	8701	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	U83569	CCDS64602.1	7p21	2008-07-18	2006-09-04					"""Axonemal dyneins"""	2942	protein-coding gene	gene with protein product	"""dynein, ciliary, heavy chain 11"", ""dynein, heavy chain beta-like"""	603339	"""dynein, axonemal, heavy polypeptide 11"""			9256245	Standard	NM_001277115		Approved	Dnahc11, DPL11, CILD7, DNAHC11, DNAHBL, DNHBL	uc031swp.1	Q96DT5		ENST00000409508.3:c.6299T>G	7.37:g.21744077T>G	ENSP00000475939:p.Phe2100Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q9UJ82	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase	p.F2107C	ENST00000409508.3	37	c.6320		7	.	.	.	.	.	.	.	.	.	.	T	23.6	4.441293	0.83993	.	.	ENSG00000105877	ENST00000328843	T	0.24350	1.86	5.44	5.44	0.79542	.	0.113396	0.64402	D	0.000005	T	0.49575	0.1565	.	.	.	0.80722	D	1	D	0.76494	0.999	D	0.63033	0.91	T	0.53380	-0.8447	9	0.66056	D	0.02	.	15.7689	0.78149	0.0:0.0:0.0:1.0	.	2107	Q96DT5	DYH11_HUMAN	C	2107	ENSP00000330671:F2107C	ENSP00000330671:F2107C	F	+	2	0	DNAH11	21710602	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.997000	0.88414	2.184000	0.69523	0.460000	0.39030	TTC	DNAH11	-	NULL		0.423	DNAH11-001	KNOWN	basic|appris_candidate	protein_coding	DNAH11	HGNC	protein_coding	OTTHUMT00000326582.6	T	NM_003777		21744077	+1	no_errors	ENST00000328843	ensembl	human	known	70_37	missense	SNP	1.000	G
DNAH2	146754	genome.wustl.edu	37	17	7682665	7682665	+	Silent	SNP	C	C	T			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr17:7682665C>T	ENST00000572933.1	+	36	7106	c.5646C>T	c.(5644-5646)ggC>ggT	p.G1882G	DNAH2_ENST00000389173.2_Silent_p.G1882G			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	1882	AAA 1. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				TGGCTGCCGGCCTCACCCATT	0.532																																																	0													88.0	70.0	76.0					17																	7682665		2203	4300	6503	SO:0001819	synonymous_variant	146754			U83570, AK128517	CCDS32551.1	17p13.1	2007-10-05	2006-09-04			ENSG00000183914		"""Axonemal dyneins"""	2948	protein-coding gene	gene with protein product		603333	"""dynein, axonemal, heavy polypeptide 2"", ""dynein heavy chain domain 3"""	DNHD3		9256245	Standard	XM_005256470		Approved	KIAA1503, FLJ46675	uc002giu.1	Q9P225		ENST00000572933.1:c.5646C>T	17.37:g.7682665C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A8K992|B5MDX5|O15434|Q6PIH3|Q6ZR42	Silent	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA_core,smart_AAA+_ATPase	p.G1882	ENST00000572933.1	37	c.5646	CCDS32551.1	17																																																																																			DNAH2	-	smart_AAA+_ATPase		0.532	DNAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH2	HGNC	protein_coding	OTTHUMT00000440241.1	C	NM_020877		7682665	+1	no_errors	ENST00000389173	ensembl	human	known	70_37	silent	SNP	0.004	T
DNAH2	146754	genome.wustl.edu	37	17	7721130	7721130	+	Missense_Mutation	SNP	C	C	G			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr17:7721130C>G	ENST00000572933.1	+	67	11652	c.10192C>G	c.(10192-10194)Cag>Gag	p.Q3398E	DNAH2_ENST00000389173.2_Missense_Mutation_p.Q3398E			Q9P225	DYH2_HUMAN	dynein, axonemal, heavy chain 2	3398	AAA 5. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(3)|breast(11)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(53)|liver(2)|lung(49)|ovary(7)|prostate(7)|skin(15)|upper_aerodigestive_tract(1)|urinary_tract(1)	189		all_cancers(10;4.66e-07)|Prostate(122;0.081)				GATCGACCCTCAGGCCCAGGC	0.652																																																	0													54.0	50.0	51.0					17																	7721130		2203	4300	6503	SO:0001583	missense	146754			U83570, AK128517	CCDS32551.1	17p13.1	2007-10-05	2006-09-04			ENSG00000183914		"""Axonemal dyneins"""	2948	protein-coding gene	gene with protein product		603333	"""dynein, axonemal, heavy polypeptide 2"", ""dynein heavy chain domain 3"""	DNHD3		9256245	Standard	XM_005256470		Approved	KIAA1503, FLJ46675	uc002giu.1	Q9P225		ENST00000572933.1:c.10192C>G	17.37:g.7721130C>G	ENSP00000458355:p.Gln3398Glu	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K992|B5MDX5|O15434|Q6PIH3|Q6ZR42	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom-1,pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA_core,smart_AAA+_ATPase	p.Q3398E	ENST00000572933.1	37	c.10192	CCDS32551.1	17	.	.	.	.	.	.	.	.	.	.	C	24.0	4.484317	0.84854	.	.	ENSG00000183914	ENST00000360606;ENST00000389173	T	0.56275	0.47	5.09	5.09	0.68999	.	0.070538	0.64402	D	0.000015	D	0.82655	0.5084	H	0.97365	3.99	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.994;0.997	D	0.88831	0.3305	10	0.87932	D	0	.	17.4323	0.87543	0.0:1.0:0.0:0.0	.	3359;3398	Q9P225-2;Q9P225	.;DYH2_HUMAN	E	3359;3398	ENSP00000373825:Q3398E	ENSP00000353818:Q3359E	Q	+	1	0	DNAH2	7661855	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	6.675000	0.74493	2.651000	0.90000	0.563000	0.77884	CAG	DNAH2	-	NULL		0.652	DNAH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH2	HGNC	protein_coding	OTTHUMT00000440241.1	C	NM_020877		7721130	+1	no_errors	ENST00000389173	ensembl	human	known	70_37	missense	SNP	1.000	G
DNAH7	56171	genome.wustl.edu	37	2	196729067	196729067	+	Missense_Mutation	SNP	G	G	A	rs537891498		TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr2:196729067G>A	ENST00000312428.6	-	41	7412	c.7312C>T	c.(7312-7314)Cgt>Tgt	p.R2438C		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	2438	AAA 4. {ECO:0000250}.				cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)	axonemal dynein complex (GO:0005858)|cilium (GO:0005929)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|microtubule motor activity (GO:0003777)	p.R2438C(1)		NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						TCTAACTGACGCATCTTATCA	0.433													G|||	1	0.000199681	0.0	0.0	5008	,	,		19822	0.001		0.0	False		,,,				2504	0.0																1	Substitution - Missense(1)	endometrium(1)											151.0	146.0	148.0					2																	196729067		1960	4161	6121	SO:0001583	missense	56171			AF327442	CCDS42794.1	2q33.1	2013-01-10	2006-09-04		ENSG00000118997	ENSG00000118997		"""Axonemal dyneins"", ""EF-hand domain containing"""	18661	protein-coding gene	gene with protein product		610061	"""dynein, axonemal, heavy polypeptide 7"""			9373155, 11877439	Standard	NM_018897		Approved	KIAA0944	uc002utj.4	Q8WXX0	OTTHUMG00000154438	ENST00000312428.6:c.7312C>T	2.37:g.196729067G>A	ENSP00000311273:p.Arg2438Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	B8ZZX8|O00433|O95492|Q4G152|Q53QX7|Q53S64|Q53T02|Q68CY5|Q8N1Z2|Q9UMS3|Q9Y2F3	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,superfamily_Signal_recog_particle_SRP9/14,smart_AAA+_ATPase,pfscan_EF_HAND_2	p.R2438C	ENST00000312428.6	37	c.7312	CCDS42794.1	2	.	.	.	.	.	.	.	.	.	.	G	24.5	4.534714	0.85812	.	.	ENSG00000118997	ENST00000312428	T	0.57595	0.39	5.34	5.34	0.76211	Dynein heavy chain, P-loop containing D4 domain (1);	0.056667	0.64402	D	0.000001	T	0.81503	0.4836	H	0.95645	3.7	0.80722	D	1	D	0.89917	1.0	D	0.76575	0.988	D	0.86502	0.1804	10	0.72032	D	0.01	.	18.8307	0.92137	0.0:0.0:1.0:0.0	.	2438	Q8WXX0	DYH7_HUMAN	C	2438	ENSP00000311273:R2438C	ENSP00000311273:R2438C	R	-	1	0	DNAH7	196437312	1.000000	0.71417	0.999000	0.59377	0.872000	0.50106	9.336000	0.96533	2.785000	0.95823	0.650000	0.86243	CGT	DNAH7	-	NULL		0.433	DNAH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH7	HGNC	protein_coding	OTTHUMT00000335202.3	G	NM_018897		196729067	-1	no_errors	ENST00000312428	ensembl	human	known	70_37	missense	SNP	1.000	A
DNAH7	56171	genome.wustl.edu	37	2	196738404	196738404	+	Missense_Mutation	SNP	G	G	A			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr2:196738404G>A	ENST00000312428.6	-	39	6401	c.6301C>T	c.(6301-6303)Cca>Tca	p.P2101S		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	2101	AAA 3. {ECO:0000250}.				cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)	axonemal dynein complex (GO:0005858)|cilium (GO:0005929)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|microtubule motor activity (GO:0003777)			NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						GGAGTTACTGGATTTCGACCA	0.279																																																	0													66.0	64.0	65.0					2																	196738404		1813	4070	5883	SO:0001583	missense	56171			AF327442	CCDS42794.1	2q33.1	2013-01-10	2006-09-04		ENSG00000118997	ENSG00000118997		"""Axonemal dyneins"", ""EF-hand domain containing"""	18661	protein-coding gene	gene with protein product		610061	"""dynein, axonemal, heavy polypeptide 7"""			9373155, 11877439	Standard	NM_018897		Approved	KIAA0944	uc002utj.4	Q8WXX0	OTTHUMG00000154438	ENST00000312428.6:c.6301C>T	2.37:g.196738404G>A	ENSP00000311273:p.Pro2101Ser	Somatic		WXS	Illumina HiSeq	Phase_IV	B8ZZX8|O00433|O95492|Q4G152|Q53QX7|Q53S64|Q53T02|Q68CY5|Q8N1Z2|Q9UMS3|Q9Y2F3	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-2,superfamily_Signal_recog_particle_SRP9/14,smart_AAA+_ATPase,pfscan_EF_HAND_2	p.P2101S	ENST00000312428.6	37	c.6301	CCDS42794.1	2	.	.	.	.	.	.	.	.	.	.	G	10.44	1.351381	0.24512	.	.	ENSG00000118997	ENST00000312428	T	0.33654	1.4	4.81	4.81	0.61882	ATPase, AAA+ type, core (1);	0.000000	0.85682	D	0.000000	T	0.46054	0.1373	L	0.54908	1.71	0.80722	D	1	P	0.44281	0.831	P	0.53722	0.733	T	0.18999	-1.0319	10	0.07482	T	0.82	.	18.0221	0.89258	0.0:0.0:1.0:0.0	.	2101	Q8WXX0	DYH7_HUMAN	S	2101	ENSP00000311273:P2101S	ENSP00000311273:P2101S	P	-	1	0	DNAH7	196446649	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.256000	0.58810	2.646000	0.89796	0.585000	0.79938	CCA	DNAH7	-	smart_AAA+_ATPase		0.279	DNAH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH7	HGNC	protein_coding	OTTHUMT00000335202.3	G	NM_018897		196738404	-1	no_errors	ENST00000312428	ensembl	human	known	70_37	missense	SNP	1.000	A
DNAH8	1769	genome.wustl.edu	37	6	38697749	38697749	+	Intron	SNP	T	T	A			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr6:38697749T>A	ENST00000359357.3	+	3	213				DNAH8_ENST00000449981.2_Missense_Mutation_p.D199E			Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy chain 8						cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						AAGAAGGAGATGTACCTGGTA	0.333																																																	0													26.0	26.0	26.0					6																	38697749		876	1991	2867	SO:0001627	intron_variant	1769			Z83806	CCDS75447.1	6p21.2	2012-04-19	2006-09-04		ENSG00000124721	ENSG00000124721		"""Axonemal dyneins"""	2952	protein-coding gene	gene with protein product		603337	"""dynein, axonemal, heavy polypeptide 8"""			9373155	Standard	NM_001206927		Approved	hdhc9	uc021yzh.1	Q96JB1	OTTHUMG00000016253	ENST00000359357.3:c.-41-4501T>A	6.37:g.38697749T>A		Somatic		WXS	Illumina HiSeq	Phase_IV	O00438|Q5JYI2|Q5T2M3|Q5T2M4|Q5TG00|Q9UEM4	Missense_Mutation	SNP	pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_Dynein_heavy_dom,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase	p.D199E	ENST00000359357.3	37	c.597		6	.	.	.	.	.	.	.	.	.	.	T	4.771	0.143392	0.09134	.	.	ENSG00000124721	ENST00000373278;ENST00000449981;ENST00000327475	T	0.22743	1.94	5.7	-1.64	0.08318	.	0.369263	0.26780	N	0.022539	T	0.01189	0.0039	N	0.03194	-0.395	0.28773	N	0.90024	B	0.19583	0.037	B	0.20184	0.028	T	0.33854	-0.9852	10	0.02654	T	1	.	0.7431	0.00977	0.2278:0.1986:0.118:0.4556	.	199	Q8IU65	.	E	199;187;187	ENSP00000333363:D187E	ENSP00000333363:D187E	D	+	3	2	DNAH8	38805727	0.003000	0.15002	0.303000	0.25071	0.733000	0.41908	-0.677000	0.05215	-0.152000	0.11156	-0.256000	0.11100	GAT	DNAH8	-	NULL		0.333	DNAH8-001	KNOWN	basic|appris_principal	protein_coding	DNAH8	HGNC	protein_coding	OTTHUMT00000043574.1	T	NM_001206927		38697749	+1	no_errors	ENST00000449981	ensembl	human	known	70_37	missense	SNP	0.041	A
DNAH9	1770	genome.wustl.edu	37	17	11535955	11535955	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr17:11535955C>T	ENST00000262442.4	+	8	1638	c.1570C>T	c.(1570-1572)Cga>Tga	p.R524*	DNAH9_ENST00000454412.2_Nonsense_Mutation_p.R524*	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	524	Stem. {ECO:0000250}.				cell projection organization (GO:0030030)|cellular component movement (GO:0006928)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		AGATCTTGACCGAAGATTGGG	0.413																																																	0													113.0	112.0	112.0					17																	11535955		2203	4300	6503	SO:0001587	stop_gained	1770			U61740	CCDS11160.1, CCDS11161.1	17p12	2009-05-07	2006-09-04		ENSG00000007174	ENSG00000007174		"""Axonemal dyneins"""	2953	protein-coding gene	gene with protein product		603330	"""dynein, axonemal, heavy polypeptide 17-like"", ""dynein, axonemal, heavy polypeptide 9"""	DNAH17L		8812413, 11247663	Standard	NM_001372		Approved	Dnahc9, KIAA0357, HL20, HL-20, DNAL1, DYH9	uc002gne.3	Q9NYC9	OTTHUMG00000130383	ENST00000262442.4:c.1570C>T	17.37:g.11535955C>T	ENSP00000262442:p.Arg524*	Somatic		WXS	Illumina HiSeq	Phase_IV	A2VCQ8|O15064|O95494|Q9NQ28	Nonsense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase	p.R524*	ENST00000262442.4	37	c.1570	CCDS11160.1	17	.	.	.	.	.	.	.	.	.	.	C	36	5.686774	0.96784	.	.	ENSG00000007174	ENST00000262442;ENST00000454412	.	.	.	5.18	4.2	0.49525	.	2.131660	0.02014	N	0.047240	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.3444	0.55111	0.1693:0.8307:0.0:0.0	.	.	.	.	X	524	.	ENSP00000262442:R524X	R	+	1	2	DNAH9	11476680	0.997000	0.39634	0.994000	0.49952	0.240000	0.25518	0.836000	0.27545	1.174000	0.42811	0.650000	0.86243	CGA	DNAH9	-	pfam_Dynein_heavy_dom-1		0.413	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH9	HGNC	protein_coding	OTTHUMT00000252756.2	C	NM_001372		11535955	+1	no_errors	ENST00000262442	ensembl	human	known	70_37	nonsense	SNP	1.000	T
DNAJB6	10049	genome.wustl.edu	37	7	157208765	157208765	+	Missense_Mutation	SNP	G	G	C			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr7:157208765G>C	ENST00000262177.4	+	10	1159	c.954G>C	c.(952-954)aaG>aaC	p.K318N	DNAJB6_ENST00000443280.1_Missense_Mutation_p.K203N|DNAJB6_ENST00000494267.1_3'UTR|DNAJB6_ENST00000452797.2_Missense_Mutation_p.K269N	NM_058246.3	NP_490647.1	O75190	DNJB6_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 6	318					intermediate filament organization (GO:0045109)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of inclusion body assembly (GO:0090084)|positive regulation of ATPase activity (GO:0032781)|protein folding (GO:0006457)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|Z disc (GO:0030018)	ATPase activator activity (GO:0001671)|chaperone binding (GO:0051087)|heat shock protein binding (GO:0031072)|unfolded protein binding (GO:0051082)			central_nervous_system(1)|lung(1)|ovary(2)|stomach(1)	5	all_neural(206;0.181)	all_epithelial(9;0.000606)|all_hematologic(28;0.00287)|Acute lymphoblastic leukemia(9;0.0647)|Ovarian(593;0.196)	OV - Ovarian serous cystadenocarcinoma(82;0.00399)	UCEC - Uterine corpus endometrioid carcinoma (81;0.172)		agtcgaagaagaagaagTCGA	0.557																																					Esophageal Squamous(46;195 967 1350 20350 43814)												0													145.0	116.0	126.0					7																	157208765		2203	4300	6503	SO:0001583	missense	10049			AB014888	CCDS5946.1, CCDS47755.1	7q36.3	2014-02-03			ENSG00000105993	ENSG00000105993		"""Heat shock proteins / DNAJ (HSP40)"""	14888	protein-coding gene	gene with protein product		611332	"""limb girdle muscular dystrophy 1D (autosomal dominant)"""	LGMD1D		10319584, 9915854, 22366786	Standard	NM_005494		Approved	MRJ	uc003wnk.3	O75190	OTTHUMG00000157242	ENST00000262177.4:c.954G>C	7.37:g.157208765G>C	ENSP00000262177:p.Lys318Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	A4D232|A8K7D8|A8KAG0|B4DN73|E9PCZ2|O95806|Q53EN8|Q59EF2|Q6FIC8|Q75MA2|Q9UIK6	Missense_Mutation	SNP	pfam_DnaJ_N,superfamily_DnaJ_N,smart_DnaJ_N,pfscan_DnaJ_N,prints_Hsp_DnaJ	p.K318N	ENST00000262177.4	37	c.954	CCDS5946.1	7	.	.	.	.	.	.	.	.	.	.	G	13.02	2.112280	0.37242	.	.	ENSG00000105993	ENST00000262177;ENST00000452797;ENST00000443280	T;T;T	0.68765	0.16;-0.35;-0.32	4.42	3.53	0.40419	.	28.536800	0.00166	N	0.000000	T	0.75606	0.3872	L	0.38175	1.15	0.29615	N	0.846644	P;D;P;P	0.71674	0.906;0.998;0.948;0.948	P;D;P;P	0.63703	0.521;0.917;0.57;0.666	T	0.59075	-0.7522	10	0.66056	D	0.02	.	9.978	0.41795	0.0983:0.0:0.9017:0.0	.	203;269;318;318	E9PH18;B4DN73;A8KAG0;O75190	.;.;.;DNJB6_HUMAN	N	318;269;203	ENSP00000262177:K318N;ENSP00000402270:K269N;ENSP00000396267:K203N	ENSP00000262177:K318N	K	+	3	2	DNAJB6	156901526	1.000000	0.71417	1.000000	0.80357	0.520000	0.34377	5.151000	0.64875	0.975000	0.38392	0.563000	0.77884	AAG	DNAJB6	-	NULL		0.557	DNAJB6-001	KNOWN	basic|CCDS	protein_coding	DNAJB6	HGNC	protein_coding	OTTHUMT00000348119.2	G			157208765	+1	no_errors	ENST00000262177	ensembl	human	known	70_37	missense	SNP	1.000	C
DNAJC13	23317	genome.wustl.edu	37	3	132224226	132224226	+	Missense_Mutation	SNP	T	T	G			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr3:132224226T>G	ENST00000260818.6	+	42	5213	c.4965T>G	c.(4963-4965)ttT>ttG	p.F1655L		NM_015268.3	NP_056083.3	O75165	DJC13_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 13	1655					osteoblast differentiation (GO:0001649)	extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)				breast(4)|endometrium(2)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|urinary_tract(1)	34						TACTTGAATTTCTTGAATCCC	0.308																																																	0													46.0	47.0	47.0					3																	132224226		2202	4290	6492	SO:0001583	missense	23317			AB014578	CCDS33857.1	3q22.1	2011-09-02			ENSG00000138246	ENSG00000138246		"""Heat shock proteins / DNAJ (HSP40)"""	30343	protein-coding gene	gene with protein product		614334				12438707	Standard	NM_015268		Approved	RME8, KIAA0678	uc003eor.3	O75165	OTTHUMG00000159674	ENST00000260818.6:c.4965T>G	3.37:g.132224226T>G	ENSP00000260818:p.Phe1655Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	Q3L0T1|Q6PI82|Q6UJ77|Q6ZSW1|Q6ZUT5|Q86XG3|Q96DC1|Q9BWK9	Missense_Mutation	SNP	pfam_DnaJ_N,superfamily_ARM-type_fold,superfamily_GYF,smart_DnaJ_N,pfscan_DnaJ_N	p.F1655L	ENST00000260818.6	37	c.4965	CCDS33857.1	3	.	.	.	.	.	.	.	.	.	.	T	16.19	3.054319	0.55218	.	.	ENSG00000138246	ENST00000260818;ENST00000538066	T	0.19105	2.17	6.16	6.16	0.99307	Armadillo-type fold (1);	0.055907	0.64402	D	0.000001	T	0.22044	0.0531	L	0.54965	1.715	0.40414	D	0.979771	B	0.20261	0.043	B	0.21360	0.034	T	0.04635	-1.0937	10	0.27082	T	0.32	.	12.584	0.56406	0.0:0.0658:0.0:0.9342	.	1655	O75165	DJC13_HUMAN	L	1655;302	ENSP00000260818:F1655L	ENSP00000260818:F1655L	F	+	3	2	DNAJC13	133706916	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	0.924000	0.28777	2.367000	0.80283	0.528000	0.53228	TTT	DNAJC13	-	superfamily_ARM-type_fold		0.308	DNAJC13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAJC13	HGNC	protein_coding	OTTHUMT00000356807.2	T	NM_015268		132224226	+1	no_errors	ENST00000260818	ensembl	human	known	70_37	missense	SNP	1.000	G
DNAJC21	134218	genome.wustl.edu	37	5	34935831	34935831	+	Missense_Mutation	SNP	G	G	C			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr5:34935831G>C	ENST00000342382.4	+	3	435	c.208G>C	c.(208-210)Gag>Cag	p.E70Q	DNAJC21_ENST00000303525.7_Missense_Mutation_p.E70Q|DNAJC21_ENST00000382021.2_Missense_Mutation_p.E70Q			Q5F1R6	DJC21_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 21	70					protein folding (GO:0006457)	ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|skin(2)|upper_aerodigestive_tract(1)	21	all_lung(31;7.08e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)			TAATCATAGAGAGGCCCTACT	0.348																																																	0													119.0	119.0	119.0					5																	34935831		2203	4300	6503	SO:0001583	missense	134218				CCDS3907.2, CCDS34144.1	5p13-p12	2012-10-05			ENSG00000168724	ENSG00000168724		"""Heat shock proteins / DNAJ (HSP40)"""	27030	protein-coding gene	gene with protein product	"""JJJ1 DnaJ domain protein homolog (S. cerevisiae)"""					15067379	Standard	XM_005248250		Approved	GS3, DNAJA5, JJJ1	uc003jjc.3	Q5F1R6	OTTHUMG00000074103	ENST00000342382.4:c.208G>C	5.37:g.34935831G>C	ENSP00000343728:p.Glu70Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	Q3B7J9|Q6P086|Q6ZS43|Q86VC6	Missense_Mutation	SNP	pfam_DnaJ_N,pfam_Znf_C2H2_jaz,superfamily_DnaJ_N,smart_DnaJ_N,smart_Znf_U1,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_DnaJ_N,prints_Hsp_DnaJ	p.E70Q	ENST00000342382.4	37	c.208	CCDS34144.1	5	.	.	.	.	.	.	.	.	.	.	G	28.2	4.902603	0.92035	.	.	ENSG00000168724	ENST00000342382;ENST00000382021;ENST00000303525	T;T;T	0.73363	-0.74;-0.74;-0.74	5.62	5.62	0.85841	Heat shock protein DnaJ, N-terminal (2);	0.152907	0.64402	D	0.000018	D	0.83709	0.5313	L	0.58969	1.84	0.80722	D	1	D;D	0.71674	0.996;0.998	D;D	0.66497	0.944;0.934	T	0.81629	-0.0846	10	0.37606	T	0.19	-31.197	19.69	0.95996	0.0:0.0:1.0:0.0	.	70;70	Q5F1R6;Q5F1R6-2	DJC21_HUMAN;.	Q	70	ENSP00000343728:E70Q;ENSP00000371451:E70Q;ENSP00000306289:E70Q	ENSP00000306289:E70Q	E	+	1	0	DNAJC21	34971588	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.317000	0.96327	2.648000	0.89879	0.650000	0.86243	GAG	DNAJC21	-	superfamily_DnaJ_N,prints_Hsp_DnaJ		0.348	DNAJC21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAJC21	HGNC	protein_coding	OTTHUMT00000157337.1	G	NM_194283		34935831	+1	no_errors	ENST00000382021	ensembl	human	known	70_37	missense	SNP	1.000	C
DNAJC27	51277	genome.wustl.edu	37	2	25181414	25181414	+	Intron	SNP	A	A	G			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr2:25181414A>G	ENST00000264711.2	-	4	430				DNAJC27_ENST00000468467.1_Splice_Site|DNAJC27_ENST00000534855.1_Intron	NM_001198559.1|NM_016544.2	NP_001185488.1|NP_057628.1	Q9NZQ0	DJC27_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 27						small GTPase mediated signal transduction (GO:0007264)	mitochondrion (GO:0005739)	GTP binding (GO:0005525)			breast(1)|endometrium(2)|large_intestine(4)|lung(4)|skin(1)|urinary_tract(1)	13						acacttacttactagttttgt	0.428																																																	0																																										SO:0001627	intron_variant	51277				CCDS1716.1, CCDS74493.1	2p23.3	2011-09-02	2008-08-20	2008-08-20	ENSG00000115137	ENSG00000115137		"""Heat shock proteins / DNAJ (HSP40)"""	30290	protein-coding gene	gene with protein product		613527	"""rab and DnaJ domain containing"""	RBJ		14980719	Standard	NM_016544		Approved	RabJS	uc002rft.2	Q9NZQ0	OTTHUMG00000125524	ENST00000264711.2:c.241-571T>C	2.37:g.25181414A>G		Somatic		WXS	Illumina HiSeq	Phase_IV	Q5JV88|Q86Y24	Splice_Site	SNP	-	e4+2	ENST00000264711.2	37	c.273+2	CCDS1716.1	2																																																																																			DNAJC27	-	-		0.428	DNAJC27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAJC27	HGNC	protein_coding	OTTHUMT00000246855.3	A	NM_016544		25181414	-1	no_errors	ENST00000380809	ensembl	human	known	70_37	splice_site	SNP	0.421	G
DNMT1	1786	genome.wustl.edu	37	19	10262176	10262176	+	Silent	SNP	G	G	A			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr19:10262176G>A	ENST00000340748.4	-	23	2350	c.2115C>T	c.(2113-2115)gtC>gtT	p.V705V	DNMT1_ENST00000540357.1_Silent_p.V705V|DNMT1_ENST00000359526.4_Silent_p.V721V			P26358	DNMT1_HUMAN	DNA (cytosine-5-)-methyltransferase 1	705	Autoinhibitory linker.				cellular response to amino acid stimulus (GO:0071230)|chromatin modification (GO:0016568)|DNA methylation (GO:0006306)|gene silencing (GO:0016458)|maintenance of DNA methylation (GO:0010216)|negative regulation of histone H3-K9 methylation (GO:0051573)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of gene expression (GO:0010628)|positive regulation of histone H3-K4 methylation (GO:0051571)|regulation of cell proliferation (GO:0042127)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|pericentric heterochromatin (GO:0005721)|replication fork (GO:0005657)	chromatin binding (GO:0003682)|DNA (cytosine-5-)-methyltransferase activity (GO:0003886)|DNA binding (GO:0003677)|DNA-methyltransferase activity (GO:0009008)|methyl-CpG binding (GO:0008327)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			breast(5)|endometrium(8)|kidney(5)|large_intestine(21)|lung(11)|ovary(2)|pancreas(1)|prostate(10)|skin(5)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06)		Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Procainamide(DB01035)	TGTTATCATCGACTTCCTCAT	0.493																																																	0													246.0	206.0	220.0					19																	10262176		2203	4300	6503	SO:0001819	synonymous_variant	1786			X63692	CCDS12228.1, CCDS45958.1	19p13.2	2014-09-17				ENSG00000130816	2.1.1.37		2976	protein-coding gene	gene with protein product		126375		DNMT		1594447	Standard	NM_001379		Approved	MCMT, CXXC9	uc010xlc.2	P26358		ENST00000340748.4:c.2115C>T	19.37:g.10262176G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	A0AV63|B7ZLW6|Q9UHG5|Q9ULA2|Q9UMZ6	Silent	SNP	pirsf_DNA_C5-MeTrfase_1_euk,pfam_C5_MeTfrase,pfam_BAH_dom,pfam_Cytosine_MeTrfase1_RFD,pfam_DMAP1-bd,pfam_Znf_CXXC,smart_BAH_dom,prints_C5_MeTfrase,pfscan_BAH_dom,pfscan_Znf_CXXC	p.V721	ENST00000340748.4	37	c.2163	CCDS12228.1	19																																																																																			DNMT1	-	pirsf_DNA_C5-MeTrfase_1_euk		0.493	DNMT1-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	DNMT1	HGNC	protein_coding	OTTHUMT00000451166.1	G	NM_001379		10262176	-1	no_errors	ENST00000359526	ensembl	human	known	70_37	silent	SNP	0.054	A
DOCK6	57572	genome.wustl.edu	37	19	11361763	11361763	+	Splice_Site	SNP	C	C	G			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr19:11361763C>G	ENST00000294618.7	-	6	519		c.e6-1			NM_020812.3	NP_065863.2	Q96HP0	DOCK6_HUMAN	dedicator of cytokinesis 6						blood coagulation (GO:0007596)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	guanyl-nucleotide exchange factor activity (GO:0005085)			breast(1)|central_nervous_system(1)|endometrium(11)|large_intestine(8)|liver(2)|lung(9)|ovary(4)|prostate(1)|skin(1)|urinary_tract(1)	39						GGGAGTCATTCTGCCAGTGGA	0.557																																																	0													15.0	18.0	17.0					19																	11361763		2028	4180	6208	SO:0001630	splice_region_variant	57572				CCDS45975.1	19p13.2	2011-08-04			ENSG00000130158	ENSG00000130158			19189	protein-coding gene	gene with protein product		614194				12432077	Standard	NM_020812		Approved	KIAA1395, ZIR1	uc002mqs.5	Q96HP0		ENST00000294618.7:c.508-1G>C	19.37:g.11361763C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	A6H8X5|Q7Z7P4|Q9P2F2	Splice_Site	SNP	-	e6-1	ENST00000294618.7	37	c.508-1	CCDS45975.1	19	.	.	.	.	.	.	.	.	.	.	C	12.84	2.058615	0.36277	.	.	ENSG00000130158	ENST00000294618	.	.	.	4.87	4.87	0.63330	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.7706	0.85536	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	DOCK6	11222763	1.000000	0.71417	0.987000	0.45799	0.094000	0.18550	7.174000	0.77620	2.250000	0.74265	0.462000	0.41574	.	DOCK6	-	-		0.557	DOCK6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DOCK6	HGNC	protein_coding	OTTHUMT00000453155.1	C	NM_020812	Intron	11361763	-1	no_errors	ENST00000294618	ensembl	human	known	70_37	splice_site	SNP	1.000	G
DOCK9	23348	genome.wustl.edu	37	13	99667822	99667822	+	Missense_Mutation	SNP	C	C	T			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr13:99667822C>T	ENST00000448493.2	-	1	151	c.41G>A	c.(40-42)cGc>cAc	p.R14H	DOCK9_ENST00000339416.2_Intron			Q9BZ29	DOCK9_HUMAN	dedicator of cytokinesis 9	0					blood coagulation (GO:0007596)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|membrane (GO:0016020)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(18)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	59	all_neural(89;0.101)|Medulloblastoma(90;0.18)|Lung SC(71;0.184)					AAAAACGGTGCGGATGCCTTT	0.403																																																	0													89.0	80.0	83.0					13																	99667822		876	1991	2867	SO:0001583	missense	23348			AF527605	CCDS45062.1	13q32.3	2013-01-10			ENSG00000088387	ENSG00000088387		"""Pleckstrin homology (PH) domain containing"""	14132	protein-coding gene	gene with protein product	"""zizimin1"""	607325				12172552, 12432077	Standard	NM_015296		Approved	KIAA1058, ZIZ1	uc001vnt.2	Q9BZ29	OTTHUMG00000017260	ENST00000448493.2:c.41G>A	13.37:g.99667822C>T	ENSP00000401958:p.Arg14His	Somatic		WXS	Illumina HiSeq	Phase_IV	B3KX25|E9PFM9|Q5JUD4|Q5JUD6|Q5T2Q1|Q5TAN8|Q9BZ25|Q9BZ26|Q9BZ27|Q9BZ28|Q9UPU4	Missense_Mutation	SNP	pfam_DOCK_C/D_N,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.R14H	ENST00000448493.2	37	c.41		13	.	.	.	.	.	.	.	.	.	.	C	15.66	2.898014	0.52227	.	.	ENSG00000088387	ENST00000448493	T	0.23147	1.92	5.91	5.03	0.67393	.	.	.	.	.	T	0.37919	0.1021	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.07635	-1.0762	5	.	.	.	.	13.0188	0.58773	0.0:0.9191:0.0:0.0809	.	.	.	.	H	14	ENSP00000401958:R14H	.	R	-	2	0	DOCK9	98465823	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.096000	0.57734	1.411000	0.46957	0.655000	0.94253	CGC	DOCK9	-	NULL		0.403	DOCK9-203	KNOWN	basic	protein_coding	DOCK9	HGNC	protein_coding		C	NM_015296		99667822	-1	no_errors	ENST00000448493	ensembl	human	known	70_37	missense	SNP	1.000	T
DPP6	1804	genome.wustl.edu	37	7	154429554	154429554	+	Silent	SNP	A	A	C	rs375064901		TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr7:154429554A>C	ENST00000377770.3	+	6	792	c.651A>C	c.(649-651)ggA>ggC	p.G217G	DPP6_ENST00000404039.1_Silent_p.G153G|DPP6_ENST00000332007.3_Silent_p.G155G|DPP6_ENST00000427557.1_Intron			P42658	DPP6_HUMAN	dipeptidyl-peptidase 6	217					cell death (GO:0008219)|neuronal action potential (GO:0019228)|positive regulation of potassium ion transmembrane transport (GO:1901381)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	dipeptidyl-peptidase activity (GO:0008239)|serine-type peptidase activity (GO:0008236)			NS(3)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(35)|pancreas(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	71	all_neural(206;0.181)	all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204)	OV - Ovarian serous cystadenocarcinoma(82;0.0562)			CGTATACTGGATATTACGTCC	0.373																																					NSCLC(125;1384 1783 2490 7422 34254)												0													156.0	128.0	137.0					7																	154429554		1845	4094	5939	SO:0001819	synonymous_variant	1804			M96859	CCDS75682.1, CCDS75683.1, CCDS75684.1	7q36.2	2006-08-07	2006-01-12		ENSG00000130226	ENSG00000130226			3010	protein-coding gene	gene with protein product		126141	"""dipeptidylpeptidase VI"", ""dipeptidylpeptidase 6"""			1729689	Standard	XM_006715871		Approved	DPPX	uc003wlk.3	P42658	OTTHUMG00000151511	ENST00000377770.3:c.651A>C	7.37:g.154429554A>C		Somatic		WXS	Illumina HiSeq	Phase_IV		Silent	SNP	pfam_Peptidase_S9B,pfam_Peptidase_S9,pfam_PD40	p.G217	ENST00000377770.3	37	c.651		7																																																																																			DPP6	-	pfam_Peptidase_S9B		0.373	DPP6-003	KNOWN	basic|appris_principal	protein_coding	DPP6	HGNC	protein_coding	OTTHUMT00000322932.1	A	NM_130797		154429554	+1	no_errors	ENST00000377770	ensembl	human	known	70_37	silent	SNP	1.000	C
DPP6	1804	genome.wustl.edu	37	7	154561192	154561192	+	Missense_Mutation	SNP	G	G	A	rs370802575		TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr7:154561192G>A	ENST00000377770.3	+	9	1090	c.949G>A	c.(949-951)Gcc>Acc	p.A317T	DPP6_ENST00000404039.1_Missense_Mutation_p.A253T|DPP6_ENST00000332007.3_Missense_Mutation_p.A255T|DPP6_ENST00000427557.1_Missense_Mutation_p.A210T			P42658	DPP6_HUMAN	dipeptidyl-peptidase 6	317					cell death (GO:0008219)|neuronal action potential (GO:0019228)|positive regulation of potassium ion transmembrane transport (GO:1901381)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	dipeptidyl-peptidase activity (GO:0008239)|serine-type peptidase activity (GO:0008236)	p.A253T(1)		NS(3)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|lung(35)|pancreas(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	71	all_neural(206;0.181)	all_hematologic(28;0.0044)|all_lung(21;0.0176)|Lung NSC(21;0.0204)	OV - Ovarian serous cystadenocarcinoma(82;0.0562)			CGCCTACGCCGCCATCAATGA	0.527																																					NSCLC(125;1384 1783 2490 7422 34254)												1	Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(1)						A	THR/ALA,THR/ALA,THR/ALA	1,4017		0,1,2008	71.0	74.0	73.0		322,322,403	4.1	1.0	7		73	0,8336		0,0,4168	no	missense,missense,missense	DPP6	NM_130797.2,NM_001936.3,NM_001039350.1	58,58,58	0,1,6176	AA,AG,GG		0.0,0.0249,0.0081	benign,benign,benign	108/657,108/657,135/684	154561192	1,12353	2009	4168	6177	SO:0001583	missense	1804			M96859	CCDS75682.1, CCDS75683.1, CCDS75684.1	7q36.2	2006-08-07	2006-01-12		ENSG00000130226	ENSG00000130226			3010	protein-coding gene	gene with protein product		126141	"""dipeptidylpeptidase VI"", ""dipeptidylpeptidase 6"""			1729689	Standard	XM_006715871		Approved	DPPX	uc003wlk.3	P42658	OTTHUMG00000151511	ENST00000377770.3:c.949G>A	7.37:g.154561192G>A	ENSP00000367001:p.Ala317Thr	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_Peptidase_S9B,pfam_Peptidase_S9,pfam_PD40	p.A317T	ENST00000377770.3	37	c.949		7	.	.	.	.	.	.	.	.	.	.	A	6.132	0.392632	0.11638	2.49E-4	0.0	ENSG00000130226	ENST00000404039;ENST00000377770;ENST00000332007;ENST00000427557	T;T;T;T	0.29655	1.56;1.56;1.56;1.56	5.28	4.13	0.48395	Peptidase S9B, dipeptidylpeptidase IV N-terminal (1);	0.000000	0.85682	N	0.000000	T	0.05640	0.0148	N	0.00122	-2.065	0.22050	N	0.999393	B;B;B;B	0.06786	0.0;0.001;0.001;0.001	B;B;B;B	0.04013	0.001;0.001;0.001;0.001	T	0.40251	-0.9573	10	0.02654	T	1	-26.5923	9.6749	0.40034	0.859:0.0:0.141:0.0	.	210;255;317;253	E9PDL2;P42658-2;P42658;E9PF59	.;.;DPP6_HUMAN;.	T	253;317;255;210	ENSP00000385578:A253T;ENSP00000367001:A317T;ENSP00000328226:A255T;ENSP00000397303:A210T	ENSP00000328226:A255T	A	+	1	0	DPP6	154192125	1.000000	0.71417	1.000000	0.80357	0.553000	0.35397	5.986000	0.70563	0.340000	0.23745	-0.254000	0.11334	GCC	DPP6	-	pfam_Peptidase_S9B		0.527	DPP6-003	KNOWN	basic|appris_principal	protein_coding	DPP6	HGNC	protein_coding	OTTHUMT00000322932.1	G	NM_130797		154561192	+1	no_errors	ENST00000377770	ensembl	human	known	70_37	missense	SNP	1.000	A
DPPA4	55211	genome.wustl.edu	37	3	109049375	109049375	+	Silent	SNP	G	G	T			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr3:109049375G>T	ENST00000335658.6	-	5	729	c.675C>A	c.(673-675)gcC>gcA	p.A225A	DPPA4_ENST00000478791.1_5'UTR	NM_018189.3	NP_060659.3	Q7L190	DPPA4_HUMAN	developmental pluripotency associated 4	225					lung-associated mesenchyme development (GO:0060484)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(17)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	25						GCTTACCAGAGGCCTCTTGTG	0.483																																																	0													47.0	49.0	48.0					3																	109049375		2203	4300	6503	SO:0001819	synonymous_variant	55211			AK001575	CCDS33814.1	3q13.13	2014-01-28			ENSG00000121570	ENSG00000121570			19200	protein-coding gene	gene with protein product		614125					Standard	NM_018189		Approved	FLJ10713	uc003dxq.4	Q7L190	OTTHUMG00000159222	ENST00000335658.6:c.675C>A	3.37:g.109049375G>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A8K4M7|Q9H9N5|Q9NVI6	Silent	SNP	NULL	p.A225	ENST00000335658.6	37	c.675	CCDS33814.1	3																																																																																			DPPA4	-	NULL		0.483	DPPA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DPPA4	HGNC	protein_coding	OTTHUMT00000353897.1	G	NM_018189		109049375	-1	no_errors	ENST00000335658	ensembl	human	known	70_37	silent	SNP	0.000	T
DPY19L1	23333	genome.wustl.edu	37	7	35050084	35050084	+	Missense_Mutation	SNP	A	A	T			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr7:35050084A>T	ENST00000310974.4	-	6	685	c.541T>A	c.(541-543)Tta>Ata	p.L181I		NM_015283.1	NP_056098.1	Q2PZI1	D19L1_HUMAN	dpy-19-like 1 (C. elegans)	181						integral component of membrane (GO:0016021)|membrane (GO:0016020)	transferase activity, transferring glycosyl groups (GO:0016757)			endometrium(3)|kidney(5)|large_intestine(8)|lung(8)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(4)	31						TCTTACCTTAAATATGTGCCA	0.229																																																	0													21.0	20.0	21.0					7																	35050084		1933	4136	6069	SO:0001583	missense	23333			AB020684	CCDS43567.1	7p14.3-p14.2	2006-04-26			ENSG00000173852	ENSG00000173852			22205	protein-coding gene	gene with protein product		613892					Standard	NM_015283		Approved	KIAA0877	uc003tem.4	Q2PZI1	OTTHUMG00000154888	ENST00000310974.4:c.541T>A	7.37:g.35050084A>T	ENSP00000308695:p.Leu181Ile	Somatic		WXS	Illumina HiSeq	Phase_IV	O94954|Q4G151	Missense_Mutation	SNP	pfam_Dpy-19	p.L181I	ENST00000310974.4	37	c.541	CCDS43567.1	7	.	.	.	.	.	.	.	.	.	.	A	20.7	4.032848	0.75504	.	.	ENSG00000173852	ENST00000310974	T	0.62639	0.01	5.29	4.15	0.48705	.	0.000000	0.64402	D	0.000002	T	0.75347	0.3837	M	0.80982	2.52	0.47308	D	0.999383	D	0.69078	0.997	D	0.79108	0.992	T	0.75519	-0.3289	10	0.44086	T	0.13	.	7.1429	0.25566	0.8422:0.0:0.1578:0.0	.	181	Q2PZI1	D19L1_HUMAN	I	181	ENSP00000308695:L181I	ENSP00000308695:L181I	L	-	1	2	DPY19L1	35016609	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.458000	0.60095	2.003000	0.58678	0.477000	0.44152	TTA	DPY19L1	-	pfam_Dpy-19		0.229	DPY19L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DPY19L1	HGNC	protein_coding	OTTHUMT00000337506.1	A			35050084	-1	no_errors	ENST00000310974	ensembl	human	known	70_37	missense	SNP	1.000	T
DPYD	1806	genome.wustl.edu	37	1	98144663	98144663	+	Missense_Mutation	SNP	A	A	C			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr1:98144663A>C	ENST00000370192.3	-	8	938	c.838T>G	c.(838-840)Ttc>Gtc	p.F280V		NM_000110.3	NP_000101	Q12882	DPYD_HUMAN	dihydropyrimidine dehydrogenase	280					beta-alanine biosynthetic process (GO:0019483)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase catabolic process (GO:0006145)|pyrimidine nucleobase catabolic process (GO:0006208)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|small molecule metabolic process (GO:0044281)|thymidine catabolic process (GO:0006214)|thymine catabolic process (GO:0006210)|UMP biosynthetic process (GO:0006222)|uracil catabolic process (GO:0006212)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	4 iron, 4 sulfur cluster binding (GO:0051539)|dihydroorotate dehydrogenase activity (GO:0004152)|dihydropyrimidine dehydrogenase (NADP+) activity (GO:0017113)|flavin adenine dinucleotide binding (GO:0050660)|metal ion binding (GO:0046872)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	83		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	Capecitabine(DB01101)|Flavin adenine dinucleotide(DB03147)|Fluorouracil(DB00544)	ATTCCAATGAAAGCAGCTTTG	0.294																																																	0													30.0	28.0	29.0					1																	98144663		2190	4284	6474	SO:0001583	missense	1806			U20938	CCDS30777.1, CCDS53346.1	1p22	2014-09-17			ENSG00000188641	ENSG00000188641	1.3.1.2		3012	protein-coding gene	gene with protein product		612779				7713523	Standard	NM_000110		Approved	DPD	uc001drv.3	Q12882	OTTHUMG00000039683	ENST00000370192.3:c.838T>G	1.37:g.98144663A>C	ENSP00000359211:p.Phe280Val	Somatic		WXS	Illumina HiSeq	Phase_IV	A2RRQ2|A2RRQ3|A8K5A2|A8MWG9|B1AN21|E9PFN1|Q16694|Q16761|Q32NB0|Q96HL6|Q96TH1	Missense_Mutation	SNP	pfam_Dihydroorotate_DH_1_2,pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD,pfam_tRNA_hU_synthase,superfamily_Helical_ferredxn,prints_FAD_pyr_nucl-diS_OxRdtase,tigrfam_Dihydroorotate_DH	p.F280V	ENST00000370192.3	37	c.838	CCDS30777.1	1	.	.	.	.	.	.	.	.	.	.	A	20.4	3.982332	0.74474	.	.	ENSG00000188641	ENST00000370192	D	0.93547	-3.24	5.67	5.67	0.87782	.	0.094831	0.64402	D	0.000001	D	0.97334	0.9128	H	0.96576	3.845	0.80722	D	1	D	0.57257	0.979	P	0.58928	0.848	D	0.98465	1.0598	10	0.87932	D	0	-17.2905	16.1924	0.82000	1.0:0.0:0.0:0.0	.	280	Q12882	DPYD_HUMAN	V	280	ENSP00000359211:F280V	ENSP00000359211:F280V	F	-	1	0	DPYD	97917251	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	7.089000	0.76909	2.287000	0.76781	0.482000	0.46254	TTC	DPYD	-	pfam_Pyr_nucl-diS_OxRdtase_FAD/NAD		0.294	DPYD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DPYD	HGNC	protein_coding	OTTHUMT00000095698.3	A	NM_000110		98144663	-1	no_errors	ENST00000370192	ensembl	human	known	70_37	missense	SNP	1.000	C
DTNB	1838	genome.wustl.edu	37	2	25851118	25851118	+	Missense_Mutation	SNP	C	C	T			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr2:25851118C>T	ENST00000406818.3	-	4	533	c.284G>A	c.(283-285)cGc>cAc	p.R95H	DTNB_ENST00000545439.1_5'UTR|DTNB_ENST00000405222.1_Missense_Mutation_p.R95H|DTNB_ENST00000404103.3_Missense_Mutation_p.R95H|DTNB_ENST00000407186.1_Missense_Mutation_p.R95H|DTNB_ENST00000496972.2_Missense_Mutation_p.R38H|DTNB_ENST00000407038.3_Missense_Mutation_p.R95H|DTNB_ENST00000472690.1_5'UTR|DTNB_ENST00000288642.8_Missense_Mutation_p.R95H|DTNB_ENST00000407661.3_Missense_Mutation_p.R95H	NM_001256303.1|NM_021907.4	NP_001243232.1|NP_068707.1	O60941	DTNB_HUMAN	dystrobrevin, beta	95						cytoplasm (GO:0005737)|synapse (GO:0045202)	calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)	p.R95L(1)		endometrium(1)|large_intestine(3)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	11	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					AGAAGGAAGGCGCTTGTTCAA	0.458																																																	1	Substitution - Missense(1)	lung(1)											156.0	146.0	149.0					2																	25851118		1972	4152	6124	SO:0001583	missense	1838			AF022728	CCDS46233.1, CCDS46234.1, CCDS46235.1, CCDS46236.1, CCDS46237.1, CCDS58702.1, CCDS74496.1	2p23.2	2008-05-15			ENSG00000138101	ENSG00000138101			3058	protein-coding gene	gene with protein product		602415				9419360	Standard	NM_021907		Approved		uc002rgh.4	O60941	OTTHUMG00000152129	ENST00000406818.3:c.284G>A	2.37:g.25851118C>T	ENSP00000384084:p.Arg95His	Somatic		WXS	Illumina HiSeq	Phase_IV	B7Z733|F5GZG4|G5E9F6|O43782|O60881|O75538|Q86VR4|Q96AW0|Q9UE14|Q9UE15|Q9UE16	Missense_Mutation	SNP	pfam_EF-hand_dom_typ1,pfam_EF-hand_dom_typ2,pfam_Znf_ZZ,smart_Znf_ZZ,pirsf_Distrobrevin,pfscan_Znf_ZZ	p.R95H	ENST00000406818.3	37	c.284	CCDS46237.1	2	.	.	.	.	.	.	.	.	.	.	C	32	5.137053	0.94517	.	.	ENSG00000138101	ENST00000496972;ENST00000406818;ENST00000404103;ENST00000407661;ENST00000407038;ENST00000405222;ENST00000407186;ENST00000288642;ENST00000303659;ENST00000349996	T;T;T;T;T;T;T;T;T;T	0.66638	-0.22;-0.22;-0.22;-0.22;-0.22;-0.22;-0.22;-0.22;-0.22;-0.22	5.01	5.01	0.66863	EF-hand domain, type 1 (1);	0.000000	0.85682	D	0.000000	D	0.82986	0.5156	M	0.85299	2.745	0.80722	D	1	D;D;D;D;P;P;D;D;D	0.89917	0.993;1.0;0.965;0.995;0.764;0.592;1.0;1.0;1.0	D;D;P;D;P;B;D;D;D	0.76575	0.919;0.986;0.846;0.949;0.624;0.339;0.987;0.987;0.988	D	0.86071	0.1538	10	0.87932	D	0	-15.5589	15.0562	0.71915	0.0:1.0:0.0:0.0	.	38;95;95;95;95;95;95;95;95	F5GZG4;O60941-3;B7Z6A9;E9PEY4;Q96AW0;O60941-2;O60941-4;G5E9F6;O60941	.;.;.;.;.;.;.;.;DTNB_HUMAN	H	38;95;95;95;95;95;95;95;95;95	ENSP00000444463:R38H;ENSP00000384084:R95H;ENSP00000385482:R95H;ENSP00000385193:R95H;ENSP00000384767:R95H;ENSP00000384787:R95H;ENSP00000385784:R95H;ENSP00000288642:R95H;ENSP00000306529:R95H;ENSP00000340957:R95H	ENSP00000288642:R95H	R	-	2	0	DTNB	25704622	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.818000	0.86416	2.329000	0.79093	0.655000	0.94253	CGC	DTNB	-	pfam_EF-hand_dom_typ1,pirsf_Distrobrevin		0.458	DTNB-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	DTNB	HGNC	protein_coding	OTTHUMT00000325361.1	C	NM_033147		25851118	-1	no_errors	ENST00000406818	ensembl	human	known	70_37	missense	SNP	1.000	T
DTX3	196403	genome.wustl.edu	37	12	58001319	58001319	+	Missense_Mutation	SNP	G	G	A			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr12:58001319G>A	ENST00000548198.1	+	3	2177	c.673G>A	c.(673-675)Gcc>Acc	p.A225T	DTX3_ENST00000548804.1_Missense_Mutation_p.A225T|DTX3_ENST00000551632.1_Missense_Mutation_p.A228T|ARHGEF25_ENST00000333972.7_5'Flank|DTX3_ENST00000337737.3_Missense_Mutation_p.A225T			Q8N9I9	DTX3_HUMAN	deltex 3, E3 ubiquitin ligase	225					Notch signaling pathway (GO:0007219)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(6)|urinary_tract(1)	12	Melanoma(17;0.122)					CTCTAAGGACGCCACCCTCCT	0.617																																																	0													65.0	70.0	69.0					12																	58001319		2042	4181	6223	SO:0001583	missense	196403			AK094385	CCDS41800.1, CCDS66410.1	12q13.2	2014-01-28	2014-01-28			ENSG00000178498		"""RING-type (C3HC4) zinc fingers"""	24457	protein-coding gene	gene with protein product		613142	"""deltex 3 homolog (Drosophila)"", ""deltex homolog 3 (Drosophila)"""			12670957	Standard	XM_005268697		Approved	FLJ34766, RNF154	uc001sow.1	Q8N9I9		ENST00000548198.1:c.673G>A	12.37:g.58001319G>A	ENSP00000447873:p.Ala225Thr	Somatic		WXS	Illumina HiSeq	Phase_IV	Q53ZZ2|Q8NAU6|Q8NDS8	Missense_Mutation	SNP	pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING	p.A228T	ENST00000548198.1	37	c.682	CCDS41800.1	12	.	.	.	.	.	.	.	.	.	.	G	11.20	1.567355	0.28003	.	.	ENSG00000178498	ENST00000548804;ENST00000337737;ENST00000548198;ENST00000551632;ENST00000550300	T;T;T;T;T	0.45276	2.03;2.03;2.03;2.03;0.9	4.29	2.28	0.28536	.	0.205253	0.42682	D	0.000667	T	0.19846	0.0477	N	0.19112	0.55	0.30727	N	0.747654	B	0.18968	0.032	B	0.17433	0.018	T	0.11792	-1.0573	10	0.10377	T	0.69	-12.7211	4.3458	0.11133	0.1132:0.0:0.5236:0.3632	.	225	Q8N9I9	DTX3_HUMAN	T	225;225;225;228;13	ENSP00000449294:A225T;ENSP00000338050:A225T;ENSP00000447873:A225T;ENSP00000448696:A228T;ENSP00000446996:A13T	ENSP00000338050:A225T	A	+	1	0	DTX3	56287586	0.738000	0.28186	0.999000	0.59377	0.997000	0.91878	1.086000	0.30853	2.110000	0.64415	0.561000	0.74099	GCC	DTX3	-	NULL		0.617	DTX3-003	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	DTX3	HGNC	protein_coding	OTTHUMT00000407848.1	G	NM_178502		58001319	+1	no_errors	ENST00000551632	ensembl	human	known	70_37	missense	SNP	0.991	A
DUXA	503835	genome.wustl.edu	37	19	57669800	57669800	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr19:57669800G>A	ENST00000554048.2	-	4	333	c.334C>T	c.(334-336)Cag>Tag	p.Q112*		NM_001012729.1	NP_001012747.1	A6NLW8	DUXA_HUMAN	double homeobox A	112					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(2)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(9)|ovary(1)|upper_aerodigestive_tract(1)	17		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0123)		GTGTGTAACTGAGAGGCGCTG	0.483																																																	0													87.0	85.0	86.0					19																	57669800		2203	4300	6503	SO:0001587	stop_gained	503835				CCDS33126.1	19q13.43	2012-10-04			ENSG00000258873	ENSG00000258873		"""Homeoboxes / PRD class"""	32179	protein-coding gene	gene with protein product		611168					Standard	NM_001012729		Approved		uc002qoa.1	A6NLW8	OTTHUMG00000170714	ENST00000554048.2:c.334C>T	19.37:g.57669800G>A	ENSP00000452398:p.Gln112*	Somatic		WXS	Illumina HiSeq	Phase_IV		Nonsense_Mutation	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_HTH_motif	p.Q112*	ENST00000554048.2	37	c.334	CCDS33126.1	19	.	.	.	.	.	.	.	.	.	.	G	13.10	2.135965	0.37728	.	.	ENSG00000258873	ENST00000554048	.	.	.	2.85	2.85	0.33270	.	0.000000	0.30940	N	0.008563	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-13.7977	9.41	0.38485	0.0:0.0:1.0:0.0	.	.	.	.	X	112	.	ENSP00000365415:Q112X	Q	-	1	0	DUXA	62361612	0.029000	0.19370	0.012000	0.15200	0.003000	0.03518	2.084000	0.41625	1.900000	0.55004	0.655000	0.94253	CAG	DUXA	-	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain		0.483	DUXA-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	DUXA	HGNC	protein_coding	OTTHUMT00000410075.3	G	NM_001012729		57669800	-1	no_errors	ENST00000554048	ensembl	human	known	70_37	nonsense	SNP	0.013	A
DYNC1H1	1778	genome.wustl.edu	37	14	102496561	102496561	+	Silent	SNP	G	G	A			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr14:102496561G>A	ENST00000360184.4	+	51	9989	c.9825G>A	c.(9823-9825)caG>caA	p.Q3275Q		NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	3275	Stalk. {ECO:0000250}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|cytoplasmic mRNA processing body assembly (GO:0033962)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic spindle organization (GO:0007052)|stress granule assembly (GO:0034063)|transport (GO:0006810)	centrosome (GO:0005813)|cytoplasmic dynein complex (GO:0005868)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|poly(A) RNA binding (GO:0044822)			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						CAGACAAACAGATGAGTGTCA	0.458																																																	0													126.0	105.0	112.0					14																	102496561		2203	4300	6503	SO:0001819	synonymous_variant	1778			AB002323	CCDS9966.1	14q32.31	2006-12-21	2005-11-24	2005-11-24		ENSG00000197102		"""Cytoplasmic dyneins"""	2961	protein-coding gene	gene with protein product		600112	"""dynein, cytoplasmic, heavy polypeptide 1"""	DNECL, DNCL, DNCH1		16260502, 8666668	Standard	NM_001376		Approved	Dnchc1, HL-3, p22, DHC1	uc001yks.2	Q14204		ENST00000360184.4:c.9825G>A	14.37:g.102496561G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	B0I1R0|Q6DKQ7|Q8WU28|Q92814|Q9Y4G5	Silent	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_Thioredoxin-like_fold,superfamily_Glutathione-S-Trfase_C-like,smart_AAA+_ATPase	p.Q3275	ENST00000360184.4	37	c.9825	CCDS9966.1	14																																																																																			DYNC1H1	-	NULL		0.458	DYNC1H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DYNC1H1	HGNC	protein_coding	OTTHUMT00000414574.1	G	NM_001376		102496561	+1	no_errors	ENST00000360184	ensembl	human	known	70_37	silent	SNP	0.745	A
DYSF	8291	genome.wustl.edu	37	2	71828536	71828536	+	Intron	SNP	G	G	C			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr2:71828536G>C	ENST00000258104.3	+	35	4120				DYSF_ENST00000409744.1_Intron|DYSF_ENST00000409582.3_Intron|DYSF_ENST00000409762.1_Intron|DYSF_ENST00000410020.3_Intron|DYSF_ENST00000429174.2_Intron|DYSF_ENST00000409366.1_Intron|DYSF_ENST00000394120.2_Intron|DYSF_ENST00000479049.2_Intron|DYSF_ENST00000409651.1_Intron|DYSF_ENST00000410041.1_Intron|DYSF_ENST00000413539.2_Intron	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin						plasma membrane repair (GO:0001778)|vesicle fusion (GO:0006906)	cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|phospholipid binding (GO:0005543)			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						ACCATGGACTGTCTGATCACT	0.542																																																	0																																										SO:0001627	intron_variant	8291			AF075575	CCDS1918.1, CCDS46323.1, CCDS46324.1, CCDS46325.1, CCDS46326.1, CCDS46327.1, CCDS46328.1, CCDS46329.1, CCDS46330.1, CCDS46331.1, CCDS46332.1	2p13.3	2014-09-17	2013-09-12		ENSG00000135636	ENSG00000135636			3097	protein-coding gene	gene with protein product	"""fer-1-like family member 1"""	603009	"""limb girdle muscular dystrophy 2B (autosomal recessive)"""	LGMD2B		8320700	Standard	NM_003494		Approved	FER1L1	uc010fen.3	O75923	OTTHUMG00000129757	ENST00000258104.3:c.3844-93G>C	2.37:g.71828536G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	A0FK00|B1PZ70|B1PZ71|B1PZ72|B1PZ73|B1PZ74|B1PZ75|B1PZ76|B1PZ77|B1PZ78|B1PZ79|B1PZ80|B1PZ81|B3KQB9|O75696|Q09EX5|Q0H395|Q53QY3|Q53TD2|Q8TEL8|Q9UEN7	RNA	SNP	-	NULL	ENST00000258104.3	37	NULL	CCDS1918.1	2																																																																																			DYSF	-	-		0.542	DYSF-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	DYSF	HGNC	protein_coding	OTTHUMT00000251970.3	G	NM_003494		71828536	+1	no_errors	ENST00000472873	ensembl	human	known	70_37	rna	SNP	0.000	C
E4F1	1877	genome.wustl.edu	37	16	2285568	2285568	+	Missense_Mutation	SNP	G	G	A	rs542965861		TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr16:2285568G>A	ENST00000301727.4	+	14	2398	c.2350G>A	c.(2350-2352)Gtc>Atc	p.V784I	DNASE1L2_ENST00000567494.1_5'Flank|DNASE1L2_ENST00000320700.5_5'Flank|E4F1_ENST00000564139.1_3'UTR|DNASE1L2_ENST00000382437.4_5'Flank|E4F1_ENST00000565090.1_Missense_Mutation_p.V607I|RP11-304L19.12_ENST00000564055.1_lincRNA|DNASE1L2_ENST00000564065.1_5'Flank	NM_004424.3	NP_004415.2	Q66K89	E4F1_HUMAN	E4F transcription factor 1	784					cell proliferation (GO:0008283)|DNA replication (GO:0006260)|mitotic cell cycle arrest (GO:0071850)|mitotic nuclear division (GO:0007067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|protein ubiquitination (GO:0016567)|regulation of cell cycle process (GO:0010564)|regulation of growth (GO:0040008)|regulation of mitotic cell cycle, embryonic (GO:0009794)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|spindle (GO:0005819)	cAMP response element binding (GO:0035497)|DNA binding (GO:0003677)|ligase activity (GO:0016874)|metal ion binding (GO:0046872)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			ovary(1)	1						GACGGTCATCGTCTAGCATGA	0.642													G|||	1	0.000199681	0.0	0.0	5008	,	,		17123	0.0		0.001	False		,,,				2504	0.0																0													14.0	11.0	12.0					16																	2285568		2177	4280	6457	SO:0001583	missense	1877			U87269	CCDS32370.1, CCDS73809.1, CCDS73810.1	16p13.3	2013-01-08				ENSG00000167967		"""Zinc fingers, C2H2-type"""	3121	protein-coding gene	gene with protein product		603022				9763670, 8828041	Standard	XM_005255155		Approved	E4F	uc002cpm.3	Q66K89		ENST00000301727.4:c.2350G>A	16.37:g.2285568G>A	ENSP00000301727:p.Val784Ile	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K2R4|O00146	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.V784I	ENST00000301727.4	37	c.2350	CCDS32370.1	16	.	.	.	.	.	.	.	.	.	.	G	14.55	2.568388	0.45798	.	.	ENSG00000167967	ENST00000301727	T	0.12465	2.68	4.98	4.98	0.66077	.	0.057531	0.64402	D	0.000001	T	0.14657	0.0354	N	0.24115	0.695	0.80722	D	1	D	0.63046	0.992	P	0.46885	0.53	T	0.01621	-1.1310	10	0.87932	D	0	.	16.9916	0.86355	0.0:0.0:1.0:0.0	.	784	Q66K89	E4F1_HUMAN	I	784	ENSP00000301727:V784I	ENSP00000301727:V784I	V	+	1	0	E4F1	2225569	.	.	0.944000	0.38274	0.079000	0.17450	.	.	2.595000	0.87683	0.561000	0.74099	GTC	E4F1	-	NULL		0.642	E4F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	E4F1	HGNC	protein_coding	OTTHUMT00000435225.1	G	NM_004424		2285568	+1	no_errors	ENST00000301727	ensembl	human	known	70_37	missense	SNP	1.000	A
EBF4	57593	genome.wustl.edu	37	20	2686630	2686630	+	Missense_Mutation	SNP	C	C	T			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr20:2686630C>T	ENST00000609451.1	+	3	377	c.305C>T	c.(304-306)gCg>gTg	p.A102V	EBF4_ENST00000380648.4_Missense_Mutation_p.A98V			Q9BQW3	COE4_HUMAN	early B-cell factor 4	102					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)										GAGCCCGGGGCGGAAAAGACT	0.607																																																	0													57.0	71.0	67.0					20																	2686630		692	1591	2283	SO:0001583	missense	57593			BC019106	CCDS46573.1	20p13	2008-10-23			ENSG00000088881	ENSG00000088881			29278	protein-coding gene	gene with protein product		609935				10718198	Standard	NM_001110514		Approved	KIAA1442, COE4, RP5-860F19.3, O/E-4	uc002wgt.4	Q9BQW3	OTTHUMG00000031709	ENST00000609451.1:c.305C>T	20.37:g.2686630C>T	ENSP00000477023:p.Ala102Val	Somatic		WXS	Illumina HiSeq	Phase_IV	Q1MTP7|Q5JY53|Q9NUB6|Q9P2A6	Missense_Mutation	SNP	pfam_IPT_TIG_rcpt,superfamily_Ig_E-set,smart_IPT_TIG_rcpt	p.A202V	ENST00000609451.1	37	c.605		20	.	.	.	.	.	.	.	.	.	.	C	15.42	2.829277	0.50845	.	.	ENSG00000088881	ENST00000380648;ENST00000342725	T;T	0.44083	0.93;0.93	4.73	3.69	0.42338	.	0.422364	0.19446	N	0.114049	T	0.28896	0.0717	N	0.22421	0.69	0.09310	N	1	B	0.27316	0.175	B	0.20384	0.029	T	0.30387	-0.9980	10	0.72032	D	0.01	-9.1955	12.414	0.55483	0.0:0.7824:0.2176:0.0	.	98	E9PEI2	.	V	98;102	ENSP00000370022:A98V;ENSP00000345030:A102V	ENSP00000345030:A102V	A	+	2	0	EBF4	2634630	0.256000	0.24012	0.935000	0.37517	0.799000	0.45148	0.916000	0.28651	2.329000	0.79093	0.491000	0.48974	GCG	EBF4	-	NULL		0.607	EBF4-011	PUTATIVE	basic|appris_candidate_longest	protein_coding	EBF4	HGNC	protein_coding	OTTHUMT00000471930.1	C	XM_938882		2686630	+1	no_errors	ENST00000449079	ensembl	human	known	70_37	missense	SNP	0.028	T
ECE2	9718	genome.wustl.edu	37	3	184009181	184009181	+	Missense_Mutation	SNP	C	C	T			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr3:184009181C>T	ENST00000402825.3	+	18	2429	c.2429C>T	c.(2428-2430)gCc>gTc	p.A810V	ECE2_ENST00000359140.4_Missense_Mutation_p.A663V|EIF2B5_ENST00000444495.1_Intron|ECE2_ENST00000404464.3_Missense_Mutation_p.A692V|ECE2_ENST00000357474.5_Missense_Mutation_p.A738V	NM_014693.3	NP_055508.3	O60344	ECE2_HUMAN	endothelin converting enzyme 2	810	Endothelin-converting enzyme 2 region.				brain development (GO:0007420)|cardioblast differentiation (GO:0010002)|cell-cell signaling (GO:0007267)|heart development (GO:0007507)|peptide hormone processing (GO:0016486)	cytoplasmic vesicle membrane (GO:0030659)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)|methyltransferase activity (GO:0008168)			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(13)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(4)	49	all_cancers(143;1.39e-10)|Ovarian(172;0.0339)		Epithelial(37;8.28e-34)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)			CAACTGCCAGCCGTGGGGCTC	0.617																																																	0													85.0	85.0	85.0					3																	184009181		2203	4300	6503	SO:0001583	missense	9718			AF428263	CCDS3255.1, CCDS33899.1, CCDS3256.2, CCDS43179.1, CCDS46969.1	3q27.1	2007-07-26			ENSG00000145194	ENSG00000145194			13275	protein-coding gene	gene with protein product		610145				11718899	Standard	NM_032331		Approved	KIAA0604, MGC2408	uc003fni.4	O60344	OTTHUMG00000150551	ENST00000402825.3:c.2429C>T	3.37:g.184009181C>T	ENSP00000384223:p.Ala810Val	Somatic		WXS	Illumina HiSeq	Phase_IV	A5PLK8|Q6NTG7|Q6UW36|Q8NFD7|Q96NX3|Q96NX4|Q9BRZ8	Missense_Mutation	SNP	pfam_Peptidase_M13_N,pfam_Peptidase_M13_C,pfam_Methyltransf_11,prints_Peptidase_M13_C	p.A810V	ENST00000402825.3	37	c.2429	CCDS3256.2	3	.	.	.	.	.	.	.	.	.	.	C	22.3	4.272233	0.80580	.	.	ENSG00000145194	ENST00000402825;ENST00000359140;ENST00000404464;ENST00000357474;ENST00000430587	D;D;D;D;D	0.90504	-2.68;-2.68;-2.68;-2.68;-2.68	5.19	5.19	0.71726	Peptidase M13, neprilysin, C-terminal (1);Metallopeptidase, catalytic domain (1);	0.062834	0.64402	D	0.000008	D	0.87446	0.6179	N	0.20328	0.56	0.54753	D	0.999986	P;B;P;P;P	0.51933	0.481;0.036;0.917;0.747;0.949	P;B;P;P;P	0.52066	0.515;0.012;0.557;0.46;0.689	D	0.86981	0.2104	10	0.40728	T	0.16	-17.6044	12.0429	0.53462	0.0:0.8261:0.1739:0.0	.	412;692;738;663;810	B4DHU4;O60344-2;O60344-5;O60344-3;O60344	.;.;.;.;ECE2_HUMAN	V	810;663;692;738;684	ENSP00000384223:A810V;ENSP00000352052:A663V;ENSP00000385846:A692V;ENSP00000350066:A738V;ENSP00000398444:A684V	ENSP00000350066:A738V	A	+	2	0	ECE2	185491875	1.000000	0.71417	0.834000	0.33040	0.982000	0.71751	4.835000	0.62781	2.421000	0.82119	0.561000	0.74099	GCC	ECE2	-	pfam_Peptidase_M13_C		0.617	ECE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ECE2	HGNC	protein_coding	OTTHUMT00000318874.3	C	NM_014693		184009181	+1	no_errors	ENST00000402825	ensembl	human	known	70_37	missense	SNP	0.993	T
ECHDC1	55862	genome.wustl.edu	37	6	127611226	127611226	+	Missense_Mutation	SNP	C	C	T			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr6:127611226C>T	ENST00000531967.1	-	6	1215	c.712G>A	c.(712-714)Gaa>Aaa	p.E238K	ECHDC1_ENST00000474289.2_Missense_Mutation_p.E232K|ECHDC1_ENST00000454591.2_Missense_Mutation_p.E157K|ECHDC1_ENST00000528402.1_3'UTR|ECHDC1_ENST00000454859.3_Missense_Mutation_p.E232K|ECHDC1_ENST00000488087.1_5'UTR|ECHDC1_ENST00000430841.2_Missense_Mutation_p.E232K|ECHDC1_ENST00000368291.2_3'UTR|ECHDC1_ENST00000309620.9_Missense_Mutation_p.E215K|ECHDC1_ENST00000368289.2_3'UTR	NM_001139510.1	NP_001132982.1	Q9NTX5	ECHD1_HUMAN	enoyl CoA hydratase domain containing 1	238						cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	carboxy-lyase activity (GO:0016831)|methylmalonyl-CoA decarboxylase activity (GO:0004492)			large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	4				GBM - Glioblastoma multiforme(226;0.0423)|all cancers(137;0.156)		GATTTAGTTTCATCTGAAGAC	0.408																																																	0													145.0	138.0	140.0					6																	127611226		1851	4090	5941	SO:0001583	missense	55862			AK025796	CCDS34530.1, CCDS43504.1, CCDS47471.1, CCDS47472.1, CCDS55054.1	6q22.33	2011-12-12	2010-04-30		ENSG00000093144	ENSG00000093144			21489	protein-coding gene	gene with protein product		612136	"""enoyl Coenzyme A hydratase domain containing 1"""			22016388	Standard	NM_001002030		Approved	dJ351K20.2	uc003qax.3	Q9NTX5	OTTHUMG00000015523	ENST00000531967.1:c.712G>A	6.37:g.127611226C>T	ENSP00000436585:p.Glu238Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NFJ5|B7Z8S0|E9PEN7|E9PR31|F8W851|Q5TEF6|Q5TEF7|Q5TEG0|Q5TEG4|Q9NZ30|V9HW18	Missense_Mutation	SNP	pfam_Crotonase_core	p.E238K	ENST00000531967.1	37	c.712	CCDS47471.1	6	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	25.9|25.9	4.680541|4.680541	0.88542|0.88542	.|.	.|.	ENSG00000093144|ENSG00000093144	ENST00000454859;ENST00000531967;ENST00000368293;ENST00000474289;ENST00000454591;ENST00000309620;ENST00000430841|ENST00000436638	T;T;T;T;T;T|.	0.68479|.	-0.33;-0.33;-0.33;-0.33;-0.33;-0.33|.	5.52|5.52	5.52|5.52	0.82312|0.82312	.|.	0.195186|.	0.53938|.	D|.	0.000056|.	T|T	0.66307|0.66307	0.2776|0.2776	L|L	0.57536|0.57536	1.79|1.79	0.52099|0.52099	D|D	0.999943|0.999943	P|.	0.51147|.	0.942|.	P|.	0.58013|.	0.831|.	T|T	0.62886|0.62886	-0.6759|-0.6759	10|5	0.54805|.	T|.	0.06|.	.|.	19.4456|19.4456	0.94845|0.94845	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	238|.	Q9NTX5|.	ECHD1_HUMAN|.	K|I	232;238;204;232;157;215;232|245	ENSP00000401751:E232K;ENSP00000436585:E238K;ENSP00000434908:E232K;ENSP00000404866:E157K;ENSP00000311115:E215K;ENSP00000402492:E232K|.	ENSP00000311115:E215K|.	E|M	-|-	1|3	0|0	ECHDC1|ECHDC1	127652919|127652919	0.892000|0.892000	0.30473|0.30473	0.922000|0.922000	0.36590|0.36590	0.981000|0.981000	0.71138|0.71138	3.479000|3.479000	0.53165|0.53165	2.587000|2.587000	0.87381|0.87381	0.563000|0.563000	0.77884|0.77884	GAA|ATG	ECHDC1	-	NULL		0.408	ECHDC1-013	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ECHDC1	HGNC	protein_coding	OTTHUMT00000042131.2	C			127611226	-1	no_errors	ENST00000531967	ensembl	human	known	70_37	missense	SNP	1.000	T
ECM2	1842	genome.wustl.edu	37	9	95277023	95277023	+	Missense_Mutation	SNP	C	C	T	rs560017678		TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr9:95277023C>T	ENST00000344604.5	-	4	1093	c.944G>A	c.(943-945)cGc>cAc	p.R315H	CENPP_ENST00000375587.3_Intron|ECM2_ENST00000444490.2_Missense_Mutation_p.R293H	NM_001197295.1|NM_001393.3	NP_001184224.1|NP_001384.1	O94769	ECM2_HUMAN	extracellular matrix protein 2, female organ and adipocyte specific	315	LRRNT.				cell-matrix adhesion (GO:0007160)|extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	interstitial matrix (GO:0005614)|proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|integrin binding (GO:0005178)			breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27						GCTTGGCAGGCGCAGTGTGCC	0.587													C|||	1	0.000199681	0.0008	0.0	5008	,	,		16033	0.0		0.0	False		,,,				2504	0.0																0													177.0	140.0	152.0					9																	95277023		2203	4300	6503	SO:0001583	missense	1842			AB011792	CCDS6698.1, CCDS56578.1	9q22.3	2008-07-21			ENSG00000106823	ENSG00000106823			3154	protein-coding gene	gene with protein product	"""matrix glycoprotein SC1/ECM2"""	603479				9790758	Standard	NM_001393		Approved		uc011lty.2	O94769	OTTHUMG00000020226	ENST00000344604.5:c.944G>A	9.37:g.95277023C>T	ENSP00000344758:p.Arg315His	Somatic		WXS	Illumina HiSeq	Phase_IV	B2R730|E2PU11|Q5T9F2|Q7Z3D0	Missense_Mutation	SNP	pfam_Leu-rich_rpt,pfam_VWF_C,smart_VWF_C,smart_Leu-rich_rpt_typical-subtyp,pfscan_VWF_C	p.R315H	ENST00000344604.5	37	c.944	CCDS6698.1	9	.	.	.	.	.	.	.	.	.	.	C	6.781	0.513139	0.12944	.	.	ENSG00000106823	ENST00000444490;ENST00000344604	T;T	0.51574	0.7;0.71	4.97	2.16	0.27623	.	0.730604	0.13326	N	0.396300	T	0.40498	0.1119	N	0.19112	0.55	0.09310	N	0.999997	D;D;D	0.67145	0.986;0.97;0.996	B;B;P	0.53549	0.34;0.27;0.729	T	0.16571	-1.0398	10	0.41790	T	0.15	.	6.9794	0.24694	0.0:0.2425:0.4139:0.3436	.	315;293;293	O94769;B4DK93;O94769-2	ECM2_HUMAN;.;.	H	293;315	ENSP00000393971:R293H;ENSP00000344758:R315H	ENSP00000344758:R315H	R	-	2	0	ECM2	94316844	0.998000	0.40836	0.154000	0.22540	0.096000	0.18686	3.812000	0.55628	0.264000	0.21851	-0.136000	0.14681	CGC	ECM2	-	NULL		0.587	ECM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ECM2	HGNC	protein_coding	OTTHUMT00000053091.1	C	NM_001393		95277023	-1	no_errors	ENST00000344604	ensembl	human	known	70_37	missense	SNP	0.253	T
EDNRB	1910	genome.wustl.edu	37	13	78492486	78492486	+	Missense_Mutation	SNP	C	C	T			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr13:78492486C>T	ENST00000334286.5	-	1	459	c.223G>A	c.(223-225)Gac>Aac	p.D75N	EDNRB_ENST00000446573.1_Missense_Mutation_p.D75N|EDNRB_ENST00000475537.1_5'UTR|RNF219-AS1_ENST00000607862.1_RNA|EDNRB_ENST00000377211.4_Missense_Mutation_p.D165N	NM_000115.3|NM_001122659.2	NP_000106.1|NP_001116131.1	P24530	EDNRB_HUMAN	endothelin receptor type B	75					aging (GO:0007568)|cell surface receptor signaling pathway (GO:0007166)|cellular response to lipopolysaccharide (GO:0071222)|cGMP-mediated signaling (GO:0019934)|endothelin receptor signaling pathway (GO:0086100)|enteric nervous system development (GO:0048484)|enteric smooth muscle cell differentiation (GO:0035645)|epithelial fluid transport (GO:0042045)|macrophage chemotaxis (GO:0048246)|melanocyte differentiation (GO:0030318)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular protein metabolic process (GO:0032269)|negative regulation of neuron maturation (GO:0014043)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|neural crest cell migration (GO:0001755)|peripheral nervous system development (GO:0007422)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of penile erection (GO:0060406)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of urine volume (GO:0035810)|posterior midgut development (GO:0007497)|regulation of blood pressure (GO:0008217)|regulation of epithelial cell proliferation (GO:0050678)|regulation of fever generation (GO:0031620)|regulation of pH (GO:0006885)|regulation of sensory perception of pain (GO:0051930)|response to organic cyclic compound (GO:0014070)|response to pain (GO:0048265)|sensory perception of pain (GO:0019233)|vasoconstriction (GO:0042310)|vasodilation (GO:0042311)|vein smooth muscle contraction (GO:0014826)	integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|nuclear membrane (GO:0031965)|plasma membrane (GO:0005886)	endothelin receptor activity (GO:0004962)|peptide hormone binding (GO:0017046)			breast(2)|endometrium(2)|kidney(1)|large_intestine(18)|lung(16)|skin(3)	42		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.037)		GBM - Glioblastoma multiforme(99;0.0933)	Bosentan(DB00559)|MACITENTAN(DB08932)|Sitaxentan(DB06268)	GCCGTCCTGTCTCCTTTAGGC	0.582																																																	0													101.0	100.0	100.0					13																	78492486		2203	4300	6503	SO:0001583	missense	1910			L06623	CCDS9461.1, CCDS55902.1	13q22	2012-08-08			ENSG00000136160	ENSG00000136160		"""GPCR / Class A : Endothelin receptors"""	3180	protein-coding gene	gene with protein product		131244		HSCR2, HSCR		1659806, 9556633	Standard	NM_000115		Approved	ETB	uc001vkp.1	P24530	OTTHUMG00000017111	ENST00000334286.5:c.223G>A	13.37:g.78492486C>T	ENSP00000335311:p.Asp75Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	A2A2Z8|A8K3T4|O15343|Q59GB1|Q5W0G9|Q8NHM6|Q8NHM7|Q8NHM8|Q8NHM9|Q9UD23|Q9UQK3	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_ETB_rcpt,prints_Endthln_rcpt,prints_GPCR_Rhodpsn,prints_Bombsn_rcpt	p.D75N	ENST00000334286.5	37	c.223	CCDS9461.1	13	.	.	.	.	.	.	.	.	.	.	C	12.54	1.970073	0.34754	.	.	ENSG00000136160	ENST00000377211;ENST00000446573;ENST00000334286	T;T;T	0.70869	-0.52;-0.33;-0.46	4.33	2.51	0.30379	.	0.499782	0.18333	N	0.144435	T	0.43010	0.1228	N	0.08118	0	0.09310	N	1	B;B;B	0.06786	0.0;0.001;0.0	B;B;B	0.08055	0.0;0.003;0.0	T	0.26189	-1.0110	10	0.02654	T	1	-0.0669	9.7724	0.40598	0.1585:0.6889:0.1526:0.0	.	75;165;75	P24530-2;P24530-3;P24530	.;.;EDNRB_HUMAN	N	165;75;75	ENSP00000366416:D165N;ENSP00000403401:D75N;ENSP00000335311:D75N	ENSP00000335311:D75N	D	-	1	0	EDNRB	77390487	0.000000	0.05858	0.003000	0.11579	0.053000	0.15095	-0.186000	0.09670	0.490000	0.27771	0.591000	0.81541	GAC	EDNRB	-	prints_ETB_rcpt		0.582	EDNRB-003	KNOWN	basic|appris_principal|CCDS	protein_coding	EDNRB	HGNC	protein_coding	OTTHUMT00000276505.1	C			78492486	-1	no_errors	ENST00000334286	ensembl	human	known	70_37	missense	SNP	0.014	T
EFCAB3	146779	genome.wustl.edu	37	17	60493572	60493572	+	Missense_Mutation	SNP	A	A	G			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr17:60493572A>G	ENST00000305286.3	+	10	1277	c.1199A>G	c.(1198-1200)tAt>tGt	p.Y400C	EFCAB3_ENST00000450662.2_Missense_Mutation_p.Y452C	NM_173503.3	NP_775774.1	Q8N7B9	EFCB3_HUMAN	EF-hand calcium binding domain 3	400							calcium ion binding (GO:0005509)			cervix(1)|endometrium(2)|large_intestine(5)|lung(6)|skin(3)	17			BRCA - Breast invasive adenocarcinoma(2;2.27e-11)			TATGATGCCTATGTGAATAGA	0.373																																																	0													108.0	115.0	113.0					17																	60493572		2203	4300	6503	SO:0001583	missense	146779			AK098684	CCDS11632.1, CCDS45751.1	17q23.3	2013-01-10			ENSG00000172421	ENSG00000172421		"""EF-hand domain containing"""	26379	protein-coding gene	gene with protein product						12477932	Standard	NM_173503		Approved	FLJ25818	uc010wpc.2	Q8N7B9	OTTHUMG00000179175	ENST00000305286.3:c.1199A>G	17.37:g.60493572A>G	ENSP00000302649:p.Tyr400Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	J3KQM8	Missense_Mutation	SNP	pfscan_EF_HAND_2	p.Y452C	ENST00000305286.3	37	c.1355	CCDS11632.1	17	.	.	.	.	.	.	.	.	.	.	A	0.520	-0.862616	0.02610	.	.	ENSG00000172421	ENST00000450662;ENST00000305286	T;T	0.59224	0.28;0.3	4.94	1.33	0.21861	.	1.629100	0.03137	N	0.166109	T	0.54415	0.1857	L	0.57536	1.79	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.31779	-0.9931	10	0.45353	T	0.12	.	6.3387	0.21310	0.529:0.0:0.471:0.0	.	400	Q8N7B9	EFCB3_HUMAN	C	452;400	ENSP00000403932:Y452C;ENSP00000302649:Y400C	ENSP00000302649:Y400C	Y	+	2	0	EFCAB3	57847304	0.341000	0.24801	0.010000	0.14722	0.031000	0.12232	1.074000	0.30703	0.099000	0.17552	0.454000	0.30748	TAT	EFCAB3	-	NULL		0.373	EFCAB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EFCAB3	HGNC	protein_coding	OTTHUMT00000379114.1	A	NM_173503		60493572	+1	no_errors	ENST00000450662	ensembl	human	known	70_37	missense	SNP	0.011	G
CRACR2B	283229	genome.wustl.edu	37	11	829993	829993	+	Missense_Mutation	SNP	G	G	T			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr11:829993G>T	ENST00000525077.1	+	4	567	c.466G>T	c.(466-468)Gct>Tct	p.A156S	EFCAB4A_ENST00000450448.1_Missense_Mutation_p.A156S|AP006621.8_ENST00000532946.1_RNA|EFCAB4A_ENST00000528542.2_Missense_Mutation_p.A156S|CD151_ENST00000397421.1_5'Flank|CD151_ENST00000322008.4_5'Flank|CD151_ENST00000397420.3_5'Flank			Q8N4Y2	EFC4A_HUMAN		156					cellular protein localization (GO:0034613)|regulation of store-operated calcium entry (GO:2001256)|store-operated calcium entry (GO:0002115)	cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)			endometrium(1)|large_intestine(1)|lung(1)	3		all_cancers(49;2.31e-08)|all_epithelial(84;3.72e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.179)|all_lung(207;0.227)		all cancers(45;1.45e-25)|Epithelial(43;1.17e-24)|OV - Ovarian serous cystadenocarcinoma(40;6.76e-19)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CAGGCAGCGGGCTGTGAGGAC	0.682																																																	0													6.0	7.0	7.0					11																	829993		1854	4038	5892	SO:0001583	missense	283229																														ENST00000525077.1:c.466G>T	11.37:g.829993G>T	ENSP00000435299:p.Ala156Ser	Somatic		WXS	Illumina HiSeq	Phase_IV	D5LPR2|Q8NBW8	Missense_Mutation	SNP	pfscan_EF_HAND_2	p.A156S	ENST00000525077.1	37	c.466		11	.	.	.	.	.	.	.	.	.	.	G	18.85	3.711775	0.68730	.	.	ENSG00000177685	ENST00000528542;ENST00000450448;ENST00000321883;ENST00000525077	T;T;T	0.06608	3.28;3.28;3.43	4.74	3.75	0.43078	.	0.226063	0.36134	N	0.002780	T	0.09598	0.0236	L	0.57536	1.79	0.09310	N	1	P;B;B	0.47604	0.898;0.373;0.101	B;B;B	0.44224	0.444;0.166;0.052	T	0.12451	-1.0547	10	0.51188	T	0.08	-7.0732	11.3516	0.49592	0.0:0.0:0.8177:0.1823	.	156;63;156	Q8N4Y2-3;E7EU41;Q8N4Y2	.;.;EFC4A_HUMAN	S	156	ENSP00000432334:A156S;ENSP00000409256:A156S;ENSP00000435299:A156S	ENSP00000324024:A156S	A	+	1	0	EFCAB4A	819993	0.263000	0.24083	0.142000	0.22268	0.913000	0.54294	3.146000	0.50631	2.177000	0.69029	0.561000	0.74099	GCT	EFCAB4A	-	NULL		0.682	EFCAB4A-007	NOVEL	basic|appris_principal	protein_coding	EFCAB4A	HGNC	protein_coding	OTTHUMT00000383097.1	G			829993	+1	no_errors	ENST00000450448	ensembl	human	known	70_37	missense	SNP	0.026	T
EFCAB6	64800	genome.wustl.edu	37	22	44063043	44063043	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr22:44063043G>A	ENST00000262726.7	-	17	2177	c.1924C>T	c.(1924-1926)Cga>Tga	p.R642*	EFCAB6_ENST00000396231.2_Nonsense_Mutation_p.R490*	NM_022785.3	NP_073622.2	Q5THR3	EFCB6_HUMAN	EF-hand calcium binding domain 6	642	EF-hand 7. {ECO:0000255|PROSITE- ProRule:PRU00448}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	calcium ion binding (GO:0005509)			breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68		Ovarian(80;0.0247)|all_neural(38;0.025)				TCAAGAAATCGTTTTTTGAAT	0.408																																																	0													205.0	198.0	200.0					22																	44063043		2203	4300	6503	SO:0001587	stop_gained	64800			Z82201	CCDS14049.1, CCDS14050.1	22q13.2	2013-01-10			ENSG00000186976	ENSG00000186976		"""EF-hand domain containing"""	24204	protein-coding gene	gene with protein product						11258795, 12612053	Standard	NM_022785		Approved	FLJ23588, DJBP, HSCBCIP1, KIAA1672, dJ185D5.1	uc003bdy.2	Q5THR3	OTTHUMG00000150522	ENST00000262726.7:c.1924C>T	22.37:g.44063043G>A	ENSP00000262726:p.Arg642*	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K8P6|A8K8Y3|B0QYI4|B0QYI6|Q5U5T6|Q9BY88|Q9H5C4|Q9NSF5	Nonsense_Mutation	SNP	pfam_EF_hand_Ca-bd_contain_6,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2	p.R642*	ENST00000262726.7	37	c.1924	CCDS14049.1	22	.	.	.	.	.	.	.	.	.	.	G	39	7.878223	0.98539	.	.	ENSG00000186976	ENST00000396231;ENST00000262726	.	.	.	4.49	-2.07	0.07276	.	2.527490	0.01706	N	0.027456	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.12430	T	0.62	0.319	0.8466	0.01162	0.1894:0.1466:0.3317:0.3324	.	.	.	.	X	490;642	.	ENSP00000262726:R642X	R	-	1	2	EFCAB6	42394376	0.000000	0.05858	0.000000	0.03702	0.280000	0.26924	-0.066000	0.11598	-0.066000	0.12998	0.650000	0.86243	CGA	EFCAB6	-	smart_EF_hand_Ca-bd,pfscan_EF_HAND_2		0.408	EFCAB6-010	KNOWN	basic|appris_principal|CCDS	protein_coding	EFCAB6	HGNC	protein_coding	OTTHUMT00000353176.1	G	NM_022785		44063043	-1	no_errors	ENST00000262726	ensembl	human	known	70_37	nonsense	SNP	0.000	A
EFNB1	1947	genome.wustl.edu	37	X	68058517	68058517	+	Silent	SNP	C	C	T			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chrX:68058517C>T	ENST00000204961.4	+	2	966	c.186C>T	c.(184-186)atC>atT	p.I62I		NM_004429.4	NP_004420.1	P98172	EFNB1_HUMAN	ephrin-B1	62	Ephrin RBD. {ECO:0000255|PROSITE- ProRule:PRU00884}.		I -> T (in CFNS). {ECO:0000269|PubMed:15166289}.		axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|embryonic pattern specification (GO:0009880)|ephrin receptor signaling pathway (GO:0048013)|neural crest cell migration (GO:0001755)|positive regulation of T cell proliferation (GO:0042102)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|synapse (GO:0045202)	ephrin receptor binding (GO:0046875)			breast(1)|endometrium(7)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)	22						AGCTGGACATCATCTGCCCCC	0.582																																																	0													52.0	44.0	47.0					X																	68058517		2203	4300	6503	SO:0001819	synonymous_variant	1947			U09303	CCDS14391.1	Xq12	2011-03-09			ENSG00000090776	ENSG00000090776		"""Ephrins"""	3226	protein-coding gene	gene with protein product		300035	"""craniofrontonasal syndrome (craniofrontonasal dysplasia)"""	EPLG2, CFNS		7774950, 16526919	Standard	NM_004429		Approved	LERK2, Elk-L	uc004dxd.4	P98172	OTTHUMG00000021751	ENST00000204961.4:c.186C>T	X.37:g.68058517C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	D3DVU0	Silent	SNP	pfam_Ephrin,superfamily_Cupredoxin,prints_Ephrin	p.I62	ENST00000204961.4	37	c.186	CCDS14391.1	X																																																																																			EFNB1	-	pfam_Ephrin,superfamily_Cupredoxin,prints_Ephrin		0.582	EFNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EFNB1	HGNC	protein_coding	OTTHUMT00000057029.1	C	NM_004429		68058517	+1	no_errors	ENST00000204961	ensembl	human	known	70_37	silent	SNP	1.000	T
EFNB2	1948	genome.wustl.edu	37	13	107145421	107145421	+	Silent	SNP	C	C	T	rs553579869		TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr13:107145421C>T	ENST00000245323.4	-	5	1118	c.969G>A	c.(967-969)ccG>ccA	p.P323P		NM_004093.3	NP_004084.1	P52799	EFNB2_HUMAN	ephrin-B2	323					anatomical structure morphogenesis (GO:0009653)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cell migration involved in sprouting angiogenesis (GO:0002042)|cell-cell signaling (GO:0007267)|ephrin receptor signaling pathway (GO:0048013)|lymph vessel development (GO:0001945)|negative regulation of keratinocyte proliferation (GO:0010839)|organ morphogenesis (GO:0009887)|positive regulation of cardiac muscle cell differentiation (GO:2000727)|regulation of chemotaxis (GO:0050920)|viral process (GO:0016032)	focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ephrin receptor binding (GO:0046875)			haematopoietic_and_lymphoid_tissue(2)|large_intestine(2)|lung(7)|ovary(1)|skin(1)	13	Lung NSC(43;0.015)|all_neural(89;0.0741)|Lung SC(71;0.14)|Medulloblastoma(90;0.169)					CCGGGCTCTGCGGGGGCATCT	0.602																																																	0													58.0	58.0	58.0					13																	107145421		2203	4300	6503	SO:0001819	synonymous_variant	1948			L38734	CCDS9507.1	13q33	2011-03-09			ENSG00000125266	ENSG00000125266		"""Ephrins"""	3227	protein-coding gene	gene with protein product	"""HTK ligand"", ""ligand of eph-related kinase 5"", ""eph-related receptor tyrosine kinase ligand 5"""	600527		EPLG5		7833926	Standard	NM_004093		Approved	LERK5, Htk-L, HTKL, MGC126226, MGC126227, MGC126228	uc001vqi.3	P52799	OTTHUMG00000017324	ENST00000245323.4:c.969G>A	13.37:g.107145421C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q5JV56	Silent	SNP	pfam_Ephrin,superfamily_Cupredoxin,prints_Ephrin	p.P323	ENST00000245323.4	37	c.969	CCDS9507.1	13																																																																																			EFNB2	-	NULL		0.602	EFNB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EFNB2	HGNC	protein_coding	OTTHUMT00000045733.4	C	NM_004093		107145421	-1	no_errors	ENST00000245323	ensembl	human	known	70_37	silent	SNP	0.127	T
EGR1	1958	genome.wustl.edu	37	5	137803396	137803396	+	Missense_Mutation	SNP	C	C	T			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr5:137803396C>T	ENST00000239938.4	+	2	1530	c.1258C>T	c.(1258-1260)Cgg>Tgg	p.R420W		NM_001964.2	NP_001955.1	P18146	EGR1_HUMAN	early growth response 1	420					BMP signaling pathway (GO:0030509)|cellular response to antibiotic (GO:0071236)|cellular response to cAMP (GO:0071320)|cellular response to drug (GO:0035690)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to gamma radiation (GO:0071480)|cellular response to gonadotropin stimulus (GO:0071371)|cellular response to growth factor stimulus (GO:0071363)|cellular response to heparin (GO:0071504)|cellular response to hyperoxia (GO:0071455)|cellular response to hypoxia (GO:0071456)|cellular response to insulin stimulus (GO:0032869)|cellular response to isoquinoline alkaloid (GO:0071317)|cellular response to mechanical stimulus (GO:0071260)|cellular response to mycophenolic acid (GO:0071506)|cellular response to steroid hormone stimulus (GO:0071383)|circadian rhythm (GO:0007623)|cytokine-mediated signaling pathway (GO:0019221)|glomerular mesangial cell proliferation (GO:0072110)|interleukin-1-mediated signaling pathway (GO:0070498)|learning or memory (GO:0007611)|long-term synaptic potentiation (GO:0060291)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|oligodendrocyte differentiation (GO:0048709)|positive regulation of glomerular metanephric mesangial cell proliferation (GO:0072303)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of protein sumoylation (GO:0033233)|response to amphetamine (GO:0001975)|response to carbon monoxide (GO:0034465)|response to cocaine (GO:0042220)|response to electrical stimulus (GO:0051602)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to norepinephrine (GO:0071873)|response to nutrient levels (GO:0031667)|skeletal muscle cell differentiation (GO:0035914)|T cell differentiation (GO:0030217)|transcription from RNA polymerase II promoter (GO:0006366)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|histone acetyltransferase binding (GO:0035035)|metal ion binding (GO:0046872)|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 (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|ovary(1)	6			KIRC - Kidney renal clear cell carcinoma(527;0.004)|Kidney(363;0.00592)			GATCCACTTGCGGCAGAAGGA	0.567																																																	0													119.0	117.0	117.0					5																	137803396		2203	4300	6503	SO:0001583	missense	1958			M62829	CCDS4206.1	5q23-q31	2013-01-08			ENSG00000120738	ENSG00000120738		"""Zinc fingers, C2H2-type"""	3238	protein-coding gene	gene with protein product	"""nerve growth factor-induced protein A"", ""transcription factor ETR103"", ""zinc finger protein 225"", ""early growth response protein 1"""	128990				3127059	Standard	NM_001964		Approved	TIS8, G0S30, NGFI-A, KROX-24, ZIF-268, AT225, ZNF225	uc003ldb.1	P18146	OTTHUMG00000129197	ENST00000239938.4:c.1258C>T	5.37:g.137803396C>T	ENSP00000239938:p.Arg420Trp	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_DUF3432,pfam_DUF3446,pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.R420W	ENST00000239938.4	37	c.1258	CCDS4206.1	5	.	.	.	.	.	.	.	.	.	.	C	11.80	1.746902	0.30955	.	.	ENSG00000120738	ENST00000239938	T	0.52983	0.64	4.29	0.115	0.14643	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.60104	0.2243	M	0.62723	1.935	0.50632	D	0.999885	D	0.89917	1.0	D	0.75484	0.986	T	0.58429	-0.7638	10	0.87932	D	0	-15.1894	9.85	0.41051	0.6625:0.2209:0.1166:0.0	.	420	P18146	EGR1_HUMAN	W	420	ENSP00000239938:R420W	ENSP00000239938:R420W	R	+	1	2	EGR1	137831295	0.999000	0.42202	0.967000	0.41034	0.991000	0.79684	1.148000	0.31614	-0.195000	0.10382	-0.223000	0.12442	CGG	EGR1	-	pfscan_Znf_C2H2		0.567	EGR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EGR1	HGNC	protein_coding	OTTHUMT00000251274.1	C	NM_001964		137803396	+1	no_errors	ENST00000239938	ensembl	human	known	70_37	missense	SNP	0.892	T
EHMT1	79813	genome.wustl.edu	37	9	140707511	140707511	+	Missense_Mutation	SNP	C	C	T	rs371580823		TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr9:140707511C>T	ENST00000460843.1	+	20	2948	c.2921C>T	c.(2920-2922)aCg>aTg	p.T974M		NM_024757.4	NP_079033.4	Q9H9B1	EHMT1_HUMAN	euchromatic histone-lysine N-methyltransferase 1	974					chromatin modification (GO:0016568)|DNA methylation (GO:0006306)|embryo development (GO:0009790)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-lysine dimethylation (GO:0018027)|peptidyl-lysine monomethylation (GO:0018026)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	histone methyltransferase activity (H3-K27 specific) (GO:0046976)|histone methyltransferase activity (H3-K9 specific) (GO:0046974)|histone-lysine N-methyltransferase activity (GO:0018024)|methyltransferase activity (GO:0008168)|p53 binding (GO:0002039)|protein-lysine N-methyltransferase activity (GO:0016279)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(16)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	41	all_cancers(76;0.164)			OV - Ovarian serous cystadenocarcinoma(145;0.000183)|Epithelial(140;0.000728)		GAAGGAGAGACGCCCCTGCAG	0.537																																																	0								C	MET/THR	1,4405	2.1+/-5.4	0,1,2202	72.0	82.0	79.0		2921	5.0	0.9	9		79	0,8600		0,0,4300	no	missense	EHMT1	NM_024757.4	81	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	probably-damaging	974/1299	140707511	1,13005	2203	4300	6503	SO:0001583	missense	79813			AY083210	CCDS7050.1, CCDS7050.2, CCDS56595.1	9q34.3	2013-09-20			ENSG00000181090	ENSG00000181090	2.1.1.43	"""Chromatin-modifying enzymes / K-methyltransferases"", ""Ankyrin repeat domain containing"""	24650	protein-coding gene	gene with protein product		607001	"""euchromatic histone methyltransferase 1"""			11347906, 12004135	Standard	NM_024757		Approved	Eu-HMTase1, FLJ12879, KIAA1876, bA188C12.1, KMT1D	uc011mfc.2	Q9H9B1	OTTHUMG00000020995	ENST00000460843.1:c.2921C>T	9.37:g.140707511C>T	ENSP00000417980:p.Thr974Met	Somatic		WXS	Illumina HiSeq	Phase_IV	B1AQ58|B1AQ59|Q86X08|Q8TCN7|Q96F53|Q96JF1|Q96KH4	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_SET_dom,pfam_Pre-SET_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_Pre-SET_Zn-bd_sub,smart_SET_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_SET_dom,pfscan_Pre-SET_dom,prints_Ankyrin_rpt	p.T974M	ENST00000460843.1	37	c.2921	CCDS7050.2	9	.	.	.	.	.	.	.	.	.	.	C	26.0	4.696109	0.88830	2.27E-4	0.0	ENSG00000181090	ENST00000371400;ENST00000460843	T	0.75154	-0.91	4.99	4.99	0.66335	Ankyrin repeat-containing domain (4);	0.000000	0.85682	D	0.000000	D	0.88533	0.6462	M	0.91920	3.255	0.80722	D	1	D	0.69078	0.997	D	0.65323	0.934	D	0.90846	0.4727	10	0.56958	D	0.05	.	18.2827	0.90103	0.0:1.0:0.0:0.0	.	974	Q9H9B1	EHMT1_HUMAN	M	943;974	ENSP00000417980:T974M	ENSP00000360453:T943M	T	+	2	0	EHMT1	139827332	1.000000	0.71417	0.926000	0.36857	0.845000	0.48019	7.704000	0.84595	2.292000	0.77174	0.655000	0.94253	ACG	EHMT1	-	superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom		0.537	EHMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EHMT1	HGNC	protein_coding	OTTHUMT00000055371.2	C	NM_024757		140707511	+1	no_errors	ENST00000460843	ensembl	human	known	70_37	missense	SNP	1.000	T
EIF3A	8661	genome.wustl.edu	37	10	120818980	120818980	+	Intron	SNP	C	C	T			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr10:120818980C>T	ENST00000369144.3	-	11	1571				SNORA19_ENST00000384737.1_RNA|SNORA19_ENST00000410656.1_RNA|EIF3A_ENST00000541549.1_Intron	NM_003750.2	NP_003741.1	P56537	IF6_HUMAN	eukaryotic translation initiation factor 3, subunit A						mature ribosome assembly (GO:0042256)|ribosomal large subunit biogenesis (GO:0042273)|ribosomal subunit export from nucleus (GO:0000054)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|lamin filament (GO:0005638)|nucleus (GO:0005634)	ribosomal large subunit binding (GO:0043023)|ribosome binding (GO:0043022)|translation initiation factor activity (GO:0003743)			endometrium(8)|kidney(4)|large_intestine(14)|lung(22)|prostate(1)|skin(4)|urinary_tract(3)	56		Lung NSC(174;0.094)|all_lung(145;0.123)		all cancers(201;0.0236)		AGAAGAATGTCATATACAAAA	0.358																																																	0																																										SO:0001627	intron_variant	8661			U78311	CCDS7608.1	10q26.11	2007-08-03	2007-07-27	2007-07-27	ENSG00000107581	ENSG00000107581			3271	protein-coding gene	gene with protein product		602039	"""eukaryotic translation initiation factor 3, subunit 10 theta, 150/170kDa"""	EIF3, EIF3S10		9054404, 8590280	Standard	NM_003750		Approved	eIF3-theta, eIF3-p170, KIAA0139, eIF3a, TIF32	uc001ldu.3	Q14152	OTTHUMG00000019144	ENST00000369144.3:c.1444-71G>A	10.37:g.120818980C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B7ZBG9|Q6IBN8|Q96TD5	RNA	SNP	-	NULL	ENST00000369144.3	37	NULL	CCDS7608.1	10																																																																																			EIF3A	-	-		0.358	EIF3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EIF3A	HGNC	protein_coding	OTTHUMT00000050634.1	C	NM_003750		120818980	-1	no_errors	ENST00000462527	ensembl	human	known	70_37	rna	SNP	0.000	T
ELL	8178	genome.wustl.edu	37	19	18572600	18572600	+	Missense_Mutation	SNP	G	G	A			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr19:18572600G>A	ENST00000262809.4	-	5	603	c.532C>T	c.(532-534)Cgg>Tgg	p.R178W	ELL_ENST00000596124.3_Missense_Mutation_p.R45W	NM_006532.3	NP_006523.1	P55199	ELL_HUMAN	elongation factor RNA polymerase II	178					gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|negative regulation of phosphatase activity (GO:0010923)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of viral transcription (GO:0050434)|snRNA transcription from RNA polymerase II promoter (GO:0042795)|snRNA transcription from RNA polymerase III promoter (GO:0042796)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	Cajal body (GO:0015030)|histone locus body (GO:0035363)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|transcription elongation factor complex (GO:0008023)|transcriptionally active chromatin (GO:0035327)	phosphatase binding (GO:0019902)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|liver(1)|lung(5)|prostate(1)	19				GBM - Glioblastoma multiforme(1328;7.81e-07)		GGGGTTGCCCGCTTCCGGGAG	0.617			T	MLL	AL						OREG0025366	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																												Dom	yes		19	19p13.1	8178	ELL gene (11-19 lysine-rich leukemia gene)		L	0													68.0	70.0	69.0					19																	18572600		2203	4300	6503	SO:0001583	missense	8178			U16282	CCDS12380.1	19p13.1	2012-04-17	2005-05-23			ENSG00000105656		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	23114	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 68"""	600284	"""chromosome 19 open reading frame 17"""	C19orf17		7991593, 8596958	Standard	NM_006532		Approved	Men, ELL1, PPP1R68	uc002njh.3	P55199		ENST00000262809.4:c.532C>T	19.37:g.18572600G>A	ENSP00000262809:p.Arg178Trp	Somatic	726	WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_RNA_pol_II_elong_fac_ELL,pfam_Occludin_RNApol2_elong_fac_ELL	p.R178W	ENST00000262809.4	37	c.532	CCDS12380.1	19	.	.	.	.	.	.	.	.	.	.	G	12.24	1.879233	0.33162	.	.	ENSG00000105656	ENST00000262809	T	0.31769	1.48	4.37	4.37	0.52481	.	0.287575	0.35320	N	0.003281	T	0.36936	0.0985	M	0.73962	2.25	0.39709	D	0.971307	B;B	0.26081	0.141;0.066	B;B	0.22880	0.042;0.013	T	0.46176	-0.9210	10	0.87932	D	0	-13.2235	16.0946	0.81112	0.0:0.0:1.0:0.0	.	122;178	Q59HG4;P55199	.;ELL_HUMAN	W	178	ENSP00000262809:R178W	ENSP00000262809:R178W	R	-	1	2	ELL	18433600	1.000000	0.71417	0.996000	0.52242	0.342000	0.28953	3.681000	0.54648	2.272000	0.75746	0.555000	0.69702	CGG	ELL	-	pfam_RNA_pol_II_elong_fac_ELL		0.617	ELL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ELL	HGNC	protein_coding	OTTHUMT00000466362.1	G	NM_006532		18572600	-1	no_errors	ENST00000262809	ensembl	human	known	70_37	missense	SNP	1.000	A
EML6	400954	genome.wustl.edu	37	2	55077237	55077237	+	Silent	SNP	G	G	A			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr2:55077237G>A	ENST00000356458.6	+	9	1846	c.1326G>A	c.(1324-1326)aaG>aaA	p.K442K	RNU7-81P_ENST00000516698.1_RNA	NM_001039753.2	NP_001034842.2	Q6ZMW3	EMAL6_HUMAN	echinoderm microtubule associated protein like 6	442						cytoplasm (GO:0005737)|microtubule (GO:0005874)				breast(1)|endometrium(6)	7						AGAGGTATAAGAAAATTGGAG	0.413																																																	0													208.0	175.0	185.0					2																	55077237		692	1591	2283	SO:0001819	synonymous_variant	400954				CCDS46286.1	2p16.1	2013-01-10			ENSG00000214595	ENSG00000214595		"""WD repeat domain containing"""	35412	protein-coding gene	gene with protein product							Standard	NM_001039753		Approved	FLJ42562	uc002ryb.4	Q6ZMW3	OTTHUMG00000152035	ENST00000356458.6:c.1326G>A	2.37:g.55077237G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	A8MUB5|B6ZDG7	Silent	SNP	pfam_WD40_repeat,pfam_HELP,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.K442	ENST00000356458.6	37	c.1326	CCDS46286.1	2																																																																																			EML6	-	superfamily_WD40_repeat_dom,pfscan_WD40_repeat_dom		0.413	EML6-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	EML6	HGNC	protein_coding	OTTHUMT00000324997.3	G	XM_001725002		55077237	+1	no_errors	ENST00000356458	ensembl	human	novel	70_37	silent	SNP	1.000	A
EMR1	2015	genome.wustl.edu	37	19	6937311	6937311	+	Silent	SNP	G	G	A			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr19:6937311G>A	ENST00000312053.4	+	19	2476	c.2439G>A	c.(2437-2439)ctG>ctA	p.L813L	EMR1_ENST00000250572.8_Silent_p.L748L|EMR1_ENST00000381404.4_Silent_p.L794L|EMR1_ENST00000381407.5_Silent_p.L672L|EMR1_ENST00000450315.3_Silent_p.L636L	NM_001974.4	NP_001965.3	Q14246	EMR1_HUMAN	egf-like module containing, mucin-like, hormone receptor-like 1	813					cell adhesion (GO:0007155)|G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(8)	62	all_hematologic(4;0.166)					CCTGGGTGCTGGGCATTTTTC	0.552																																																	0													145.0	135.0	139.0					19																	6937311		2203	4300	6503	SO:0001819	synonymous_variant	2015			X81479	CCDS12175.1, CCDS58643.1, CCDS58644.1, CCDS58645.1, CCDS58646.1	19p13.3	2014-08-08	2003-11-26					"""-"", ""GPCR / Class B : Orphans"""	3336	protein-coding gene	gene with protein product		600493	"""egf-like module containing, mucin-like, hormone receptor-like sequence 1"""	TM7LN3		7601460, 9500513	Standard	NM_001974		Approved		uc002mfw.4	Q14246		ENST00000312053.4:c.2439G>A	19.37:g.6937311G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	A6NHV2|B7Z486|B7Z489|E7EPX9|E9PD45|H9KV79|Q2I7G5|Q6ZMN0|Q8NGA7	Silent	SNP	pfam_GPCR_2_secretin-like,pfam_EGF-like_Ca-bd,pfam_GPS_dom,smart_EGF-like_Ca-bd,smart_EG-like_dom,smart_GPS_dom,pfscan_EG-like_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,prints_GPCR_2_EMR1_rcpt,prints_GPCR_2_secretin-like	p.L813	ENST00000312053.4	37	c.2439	CCDS12175.1	19																																																																																			EMR1	-	pfam_GPCR_2_secretin-like,pfscan_GPCR_2-like		0.552	EMR1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	EMR1	HGNC	protein_coding	OTTHUMT00000458485.1	G			6937311	+1	no_errors	ENST00000312053	ensembl	human	known	70_37	silent	SNP	0.955	A
ENPP2	5168	genome.wustl.edu	37	8	120575239	120575239	+	Missense_Mutation	SNP	C	C	T			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr8:120575239C>T	ENST00000075322.6	-	24	2337	c.2279G>A	c.(2278-2280)aGt>aAt	p.S760N	ENPP2_ENST00000522167.1_Missense_Mutation_p.S395N|ENPP2_ENST00000427067.2_Missense_Mutation_p.S781N|ENPP2_ENST00000259486.6_Missense_Mutation_p.S812N|ENPP2_ENST00000522826.1_Missense_Mutation_p.S785N	NM_001040092.2	NP_001035181.1	Q13822	ENPP2_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 2	760					cellular component movement (GO:0006928)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|phosphate-containing compound metabolic process (GO:0006796)|phosphatidylcholine catabolic process (GO:0034638)|phospholipid catabolic process (GO:0009395)|regulation of cell migration (GO:0030334)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	alkylglycerophosphoethanolamine phosphodiesterase activity (GO:0047391)|calcium ion binding (GO:0005509)|hydrolase activity (GO:0016787)|lysophospholipase activity (GO:0004622)|nucleic acid binding (GO:0003676)|nucleotide diphosphatase activity (GO:0004551)|phosphodiesterase I activity (GO:0004528)|polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(30)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)	69	Lung NSC(37;5.03e-06)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			AGGAATGGAACTGCCTTCCAC	0.458																																					Melanoma(20;305 879 2501 4818 31020)												0													131.0	111.0	118.0					8																	120575239		2203	4300	6503	SO:0001583	missense	5168			D45421	CCDS6329.1, CCDS34936.1, CCDS47914.1	8q24.12	2014-04-09	2008-08-01		ENSG00000136960	ENSG00000136960	3.1.4.1, 3.6.1.9		3357	protein-coding gene	gene with protein product	"""autotaxin"""	601060		PDNP2		8586446	Standard	NM_001040092		Approved	ATX, PD-IALPHA	uc003yos.2	Q13822	OTTHUMG00000164995	ENST00000075322.6:c.2279G>A	8.37:g.120575239C>T	ENSP00000075322:p.Ser760Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	A8UHA1|E9PHP7|Q13827|Q14555|Q15117|Q9UCQ8|Q9UCR0|Q9UCR1|Q9UCR2|Q9UCR3|Q9UCR4	Missense_Mutation	SNP	pfam_Phosphodiest/P_Trfase,pfam_Somatomedin_B_dom,pfam_DNA/RNA_non-sp_Endonuclease,superfamily_Alkaline_phosphatase_core,smart_Somatomedin_B_dom,smart_DNA/RNA_non-sp_Endonuclease,smart_Extracellular_endonuc_su_A,pfscan_Somatomedin_B_dom,prints_Somatomedin_B_chordata	p.S812N	ENST00000075322.6	37	c.2435	CCDS34936.1	8	.	.	.	.	.	.	.	.	.	.	C	18.76	3.693544	0.68386	.	.	ENSG00000136960	ENST00000259486;ENST00000427067;ENST00000522167;ENST00000522826;ENST00000075322	T;T;T;T;T	0.26518	1.73;1.73;1.73;1.73;1.73	5.67	4.79	0.61399	DNA/RNA non-specific endonuclease (2);Extracellular Endonuclease, subunit A (2);	0.097197	0.85682	D	0.000000	T	0.42268	0.1195	L	0.41236	1.265	0.35945	D	0.833508	D;D;P;D;B	0.76494	0.999;0.997;0.89;0.967;0.003	D;D;D;P;B	0.83275	0.996;0.995;0.922;0.595;0.015	T	0.52593	-0.8555	10	0.51188	T	0.08	.	14.8379	0.70197	0.0:0.8473:0.1527:0.0	.	298;785;760;812;395	B4DJD3;E9PHP7;Q13822;Q13822-2;E5RIA2	.;.;ENPP2_HUMAN;.;.	N	812;781;395;785;760	ENSP00000259486:S812N;ENSP00000403315:S781N;ENSP00000429476:S395N;ENSP00000428291:S785N;ENSP00000075322:S760N	ENSP00000075322:S760N	S	-	2	0	ENPP2	120644420	0.995000	0.38212	0.904000	0.35570	0.974000	0.67602	3.240000	0.51368	1.375000	0.46248	0.557000	0.71058	AGT	ENPP2	-	pfam_DNA/RNA_non-sp_Endonuclease,smart_DNA/RNA_non-sp_Endonuclease,smart_Extracellular_endonuc_su_A		0.458	ENPP2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	ENPP2	HGNC	protein_coding	OTTHUMT00000381390.1	C			120575239	-1	no_errors	ENST00000259486	ensembl	human	known	70_37	missense	SNP	0.991	T
ENPP2	5168	genome.wustl.edu	37	8	120595987	120595987	+	Missense_Mutation	SNP	C	C	T			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr8:120595987C>T	ENST00000075322.6	-	17	1571	c.1513G>A	c.(1513-1515)Gaa>Aaa	p.E505K	ENPP2_ENST00000522167.1_Missense_Mutation_p.E144K|ENPP2_ENST00000427067.2_Missense_Mutation_p.E501K|ENPP2_ENST00000259486.6_Missense_Mutation_p.E557K|ENPP2_ENST00000522826.1_Missense_Mutation_p.E505K	NM_001040092.2	NP_001035181.1	Q13822	ENPP2_HUMAN	ectonucleotide pyrophosphatase/phosphodiesterase 2	505					cellular component movement (GO:0006928)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|phosphate-containing compound metabolic process (GO:0006796)|phosphatidylcholine catabolic process (GO:0034638)|phospholipid catabolic process (GO:0009395)|regulation of cell migration (GO:0030334)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	alkylglycerophosphoethanolamine phosphodiesterase activity (GO:0047391)|calcium ion binding (GO:0005509)|hydrolase activity (GO:0016787)|lysophospholipase activity (GO:0004622)|nucleic acid binding (GO:0003676)|nucleotide diphosphatase activity (GO:0004551)|phosphodiesterase I activity (GO:0004528)|polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(30)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)	69	Lung NSC(37;5.03e-06)|Ovarian(258;0.0249)|Hepatocellular(40;0.161)		STAD - Stomach adenocarcinoma(47;0.00185)			TCAATGTTTTCAAATGGAGGC	0.303																																					Melanoma(20;305 879 2501 4818 31020)												0													97.0	101.0	99.0					8																	120595987		2202	4300	6502	SO:0001583	missense	5168			D45421	CCDS6329.1, CCDS34936.1, CCDS47914.1	8q24.12	2014-04-09	2008-08-01		ENSG00000136960	ENSG00000136960	3.1.4.1, 3.6.1.9		3357	protein-coding gene	gene with protein product	"""autotaxin"""	601060		PDNP2		8586446	Standard	NM_001040092		Approved	ATX, PD-IALPHA	uc003yos.2	Q13822	OTTHUMG00000164995	ENST00000075322.6:c.1513G>A	8.37:g.120595987C>T	ENSP00000075322:p.Glu505Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	A8UHA1|E9PHP7|Q13827|Q14555|Q15117|Q9UCQ8|Q9UCR0|Q9UCR1|Q9UCR2|Q9UCR3|Q9UCR4	Missense_Mutation	SNP	pfam_Phosphodiest/P_Trfase,pfam_Somatomedin_B_dom,pfam_DNA/RNA_non-sp_Endonuclease,superfamily_Alkaline_phosphatase_core,smart_Somatomedin_B_dom,smart_DNA/RNA_non-sp_Endonuclease,smart_Extracellular_endonuc_su_A,pfscan_Somatomedin_B_dom,prints_Somatomedin_B_chordata	p.E557K	ENST00000075322.6	37	c.1669	CCDS34936.1	8	.	.	.	.	.	.	.	.	.	.	C	29.5	5.007874	0.93287	.	.	ENSG00000136960	ENST00000259486;ENST00000427067;ENST00000522167;ENST00000522826;ENST00000075322	T;T;T;T;T	0.75477	-0.94;-0.94;-0.94;-0.94;-0.94	5.54	5.54	0.83059	Alkaline phosphatase-like, alpha/beta/alpha (1);Alkaline-phosphatase-like, core domain (1);	0.000000	0.85682	D	0.000000	D	0.84611	0.5510	L	0.59436	1.845	0.80722	D	1	D;P;D;D;D	0.76494	0.999;0.945;0.998;0.992;0.999	D;P;D;D;D	0.70935	0.971;0.787;0.92;0.94;0.956	D	0.85591	0.1246	10	0.87932	D	0	.	19.48	0.95005	0.0:1.0:0.0:0.0	.	22;505;505;557;144	B4DJD3;E9PHP7;Q13822;Q13822-2;E5RIA2	.;.;ENPP2_HUMAN;.;.	K	557;501;144;505;505	ENSP00000259486:E557K;ENSP00000403315:E501K;ENSP00000429476:E144K;ENSP00000428291:E505K;ENSP00000075322:E505K	ENSP00000075322:E505K	E	-	1	0	ENPP2	120665168	1.000000	0.71417	1.000000	0.80357	0.935000	0.57460	7.814000	0.86154	2.606000	0.88127	0.561000	0.74099	GAA	ENPP2	-	superfamily_Alkaline_phosphatase_core		0.303	ENPP2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	ENPP2	HGNC	protein_coding	OTTHUMT00000381390.1	C			120595987	-1	no_errors	ENST00000259486	ensembl	human	known	70_37	missense	SNP	1.000	T
AL355390.1	0	genome.wustl.edu	37	13	74988828	74988828	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr13:74988828G>A	ENST00000325811.1	-	2	593	c.289C>T	c.(289-291)Cag>Tag	p.Q97*																								aatccaggctgatagcatgag	0.597																																																	0																																										SO:0001587	stop_gained	0																														ENST00000325811.1:c.289C>T	13.37:g.74988828G>A	ENSP00000316959:p.Gln97*	Somatic		WXS	Illumina HiSeq	Phase_IV		Nonsense_Mutation	SNP	NULL	p.Q97*	ENST00000325811.1	37	c.289		13	.	.	.	.	.	.	.	.	.	.	G	14.05	2.420721	0.42918	.	.	ENSG00000177596	ENST00000325811	.	.	.	0.235	-0.47	0.12131	.	.	.	.	.	.	.	.	.	.	.	0.33990	D	0.649074	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	.	.	.	.	.	.	.	X	97	.	ENSP00000316959:Q97X	Q	-	1	0	AL355390.1	73886829	0.001000	0.12720	0.001000	0.08648	0.001000	0.01503	-0.586000	0.05787	-0.671000	0.05274	-0.657000	0.03884	CAG	AL355390.1	-	NULL		0.597	AL355390.1-201	KNOWN	basic|appris_principal	protein_coding	ENSG00000177596	Clone_based_ensembl_gene	protein_coding		G			74988828	-1	no_errors	ENST00000325811	ensembl	human	known	70_37	nonsense	SNP	0.001	A
SLC5A10	125206	genome.wustl.edu	37	17	18855668	18855668	+	Intron	SNP	C	C	T			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr17:18855668C>T	ENST00000395645.3	+	1	129				AC090286.4_ENST00000354432.3_RNA|SLC5A10_ENST00000395642.1_Intron|SLC5A10_ENST00000395643.2_Intron|SLC5A10_ENST00000395647.2_Intron|SLC5A10_ENST00000417251.2_Intron|SLC5A10_ENST00000317977.6_Intron	NM_001042450.2	NP_001035915.1	A0PJK1	SC5AA_HUMAN	solute carrier family 5 (sodium/sugar cotransporter), member 10						sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(3)|ovary(3)|prostate(3)|skin(3)	24						AGTGGGCTCTCAGGGTTGGTG	0.587																																																	0													80.0	85.0	83.0					17																	18855668		2146	4246	6392	SO:0001627	intron_variant	0				CCDS11201.2, CCDS42275.1, CCDS59277.1, CCDS59278.1, CCDS74008.1	17p11.2	2013-07-19	2013-07-19		ENSG00000154025	ENSG00000154025		"""Solute carriers"""	23155	protein-coding gene	gene with protein product			"""solute carrier family 5 (sodium/glucose cotransporter), member 10"""				Standard	NM_152351		Approved	SGLT5	uc002gut.2	A0PJK1	OTTHUMG00000178143	ENST00000395645.3:c.111+39C>T	17.37:g.18855668C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A8MUC9|B4DPI0|B7WPR4|Q6P5X0|Q8IXM4|Q96LQ1	RNA	SNP	-	NULL	ENST00000395645.3	37	NULL	CCDS42275.1	17																																																																																			AC090286.4	-	-		0.587	SLC5A10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000196893	Clone_based_vega_gene	protein_coding	OTTHUMT00000132129.2	C	NM_152351		18855668	-1	no_errors	ENST00000354432	ensembl	human	known	70_37	rna	SNP	0.000	T
MIRLET7BHG	400931	genome.wustl.edu	37	22	46501603	46501603	+	Silent	SNP	C	C	G			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr22:46501603C>G	ENST00000381051.2	+	5	575	c.522C>G	c.(520-522)gcC>gcG	p.A174A	FLJ27365_ENST00000360737.3_Intron																							GCCTGCCCGCCCAGACCAGAG	0.672																																																	0																																										SO:0001819	synonymous_variant	0																														ENST00000381051.2:c.522C>G	22.37:g.46501603C>G		Somatic		WXS	Illumina HiSeq	Phase_IV		Silent	SNP	NULL	p.A174	ENST00000381051.2	37	c.522		22																																																																																			FLJ27365	-	NULL		0.672	FLJ27365-003	PUTATIVE	basic|appris_candidate_longest	protein_coding	ENSG00000197182	Uniprot_genename	protein_coding	OTTHUMT00000316783.1	C			46501603	+1	no_errors	ENST00000381051	ensembl	human	putative	70_37	silent	SNP	0.008	G
LOC101927533	101927533	genome.wustl.edu	37	2	65919065	65919065	+	lincRNA	SNP	T	T	A			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr2:65919065T>A	ENST00000377977.3	+	0	1012																											CGGATTCTATTGTCTCTTCTC	0.448																																																	0																																												0																															2.37:g.65919065T>A		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000377977.3	37	NULL		2																																																																																			AC074391.1	-	-		0.448	AC074391.1-010	KNOWN	basic	lincRNA	ENSG00000204929	Clone_based_vega_gene	lincRNA	OTTHUMT00000470883.1	T			65919065	+1	no_errors	ENST00000377977	ensembl	human	known	70_37	rna	SNP	0.001	A
AC024132.1	0	genome.wustl.edu	37	4	27209444	27209444	+	lincRNA	SNP	A	A	C			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr4:27209444A>C	ENST00000382007.1	-	0	2191																											AAAGTCAGCAAGTCCAATGCT	0.522																																																	0													128.0	125.0	126.0					4																	27209444		692	1591	2283			0																															4.37:g.27209444A>C		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000382007.1	37	NULL		4																																																																																			AC024132.1	-	-		0.522	AC024132.1-001	KNOWN	basic	lincRNA	ENSG00000205830	Clone_based_vega_gene	lincRNA	OTTHUMT00000319578.1	A			27209444	-1	no_errors	ENST00000382007	ensembl	human	known	70_37	rna	SNP	0.000	C
ELFN1	392617	genome.wustl.edu	37	7	1733361	1733361	+	Intron	SNP	G	G	A			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr7:1733361G>A	ENST00000424383.2	+	1	32				AC074389.7_ENST00000450458.1_lincRNA|AC074389.6_ENST00000382528.1_Silent_p.S57S			P0C7U0	ELFN1_HUMAN	extracellular leucine-rich repeat and fibronectin type III domain containing 1						negative regulation of phosphatase activity (GO:0010923)|synapse organization (GO:0050808)	dendrite (GO:0030425)|excitatory synapse (GO:0060076)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	phosphatase binding (GO:0019902)|protein phosphatase inhibitor activity (GO:0004864)			endometrium(1)	1						TCACCCTCCCGCTCGTCCCCA	0.637																																																	0																																										SO:0001627	intron_variant	0				CCDS59046.1	7p22.3	2013-02-11	2011-10-27	2011-10-27	ENSG00000225968	ENSG00000225968		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Fibronectin type III domain containing"""	33154	protein-coding gene	gene with protein product		614964	"""extracellular leucine-rich repeat and fibronectin type III containing 1"", ""extracellular leucine-rich repeat and fibronectin type III domain containing 1"", ""protein phosphatase 1, regulatory subunit 28"""	PPP1R28		17868438	Standard	NM_001128636		Approved		uc010ksg.2	P0C7U0	OTTHUMG00000151495	ENST00000424383.2:c.-456+5575G>A	7.37:g.1733361G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	H3BS57	Silent	SNP	NULL	p.S57	ENST00000424383.2	37	c.171	CCDS59046.1	7																																																																																			AC074389.6	-	NULL		0.637	ELFN1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	ENSG00000205971	Clone_based_vega_gene	protein_coding	OTTHUMT00000322893.2	G	NM_001128636		1733361	-1	no_errors	ENST00000382528	ensembl	human	putative	70_37	silent	SNP	0.003	A
RP11-1036E20.9	0	genome.wustl.edu	37	11	59038010	59038011	+	lincRNA	INS	-	-	A	rs56102919|rs77430335|rs397935653|rs112888385		TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr11:59038010_59038011insA	ENST00000399003.1	-	0	1142_1143																											tagttgtttacaaaaaaaaaac	0.371																																																	0																																												0																															11.37:g.59038020_59038020dupA		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	INS	-	NULL	ENST00000399003.1	37	NULL		11																																																																																			RP11-1036E20.9	-	-		0.371	RP11-1036E20.9-001	KNOWN	basic	lincRNA	ENSG00000214797	Clone_based_vega_gene	lincRNA	OTTHUMT00000394611.1	-			59038011	-1	no_errors	ENST00000399003	ensembl	human	known	70_37	rna	INS	0.006:0.000	A
MYO1E	4643	genome.wustl.edu	37	15	59443250	59443250	+	Intron	SNP	G	G	A	rs1665055		TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr15:59443250G>A	ENST00000288235.4	-	26	3480				AC092757.1_ENST00000408169.1_RNA	NM_004998.3	NP_004989.2	Q12965	MYO1E_HUMAN	myosin IE						actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|endocytosis (GO:0006897)|glomerular basement membrane development (GO:0032836)|glomerular filtration (GO:0003094)|glomerular visceral epithelial cell development (GO:0072015)|in utero embryonic development (GO:0001701)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|post-embryonic hemopoiesis (GO:0035166)|vasculogenesis (GO:0001570)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity, coupled (GO:0042623)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|motor activity (GO:0003774)|phosphatidylinositol binding (GO:0035091)			breast(1)|central_nervous_system(3)|endometrium(5)|kidney(4)|large_intestine(6)|lung(10)|pancreas(2)|prostate(1)|urinary_tract(1)	33				all cancers(107;0.207)		acacacacacGCGCGCGCGCG	0.547																																																	0																																										SO:0001627	intron_variant	0			U14391	CCDS32254.1	15q21-q22	2011-09-27				ENSG00000157483		"""Myosins / Myosin superfamily : Class I"""	7599	protein-coding gene	gene with protein product	"""myosin-IC"""	601479				8884266	Standard	NM_004998		Approved	MYO1C, HuncM-IC, MGC104638	uc002aga.4	Q12965		ENST00000288235.4:c.3080+2538C>T	15.37:g.59443250G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q14778	RNA	SNP	-	NULL	ENST00000288235.4	37	NULL	CCDS32254.1	15																																																																																			AC092757.1	-	-		0.547	MYO1E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000221096	Clone_based_ensembl_gene	protein_coding	OTTHUMT00000416024.1	G	NM_004998		59443250	-1	no_errors	ENST00000408169	ensembl	human	novel	70_37	rna	SNP	0.000	A
AL136987.1	0	genome.wustl.edu	37	1	192460261	192460264	+	RNA	DEL	TGTG	TGTG	-			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	TGTG	TGTG					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr1:192460261_192460264delTGTG	ENST00000408218.1	-	0	86_89																											TCTCTGAATAtgtgtgtgtgtgtg	0.328																																																	0																																												0																															1.37:g.192460269_192460272delTGTG		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	DEL	-	NULL	ENST00000408218.1	37	NULL		1																																																																																			AL136987.1	-	-		0.328	AL136987.1-201	NOVEL	basic	miRNA	ENSG00000221145	Clone_based_ensembl_gene	miRNA		TGTG			192460264	-1	no_errors	ENST00000408218	ensembl	human	novel	70_37	rna	DEL	0.001:0.002:0.002:0.001	-
PVRIG	79037	genome.wustl.edu	37	7	99817715	99817715	+	Intron	SNP	C	C	T			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr7:99817715C>T	ENST00000317271.2	+	3	481				GATS_ENST00000543273.1_RNA|GATS_ENST00000436886.2_Intron|AC005071.1_ENST00000410550.1_RNA	NM_024070.3	NP_076975.2	Q6DKI7	PVRIG_HUMAN	poliovirus receptor related immunoglobulin domain containing							integral component of membrane (GO:0016021)				breast(1)|endometrium(3)|kidney(1)|lung(3)|prostate(1)|skin(2)	11	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					AACAGCCCACCGACCTTGCTG	0.642																																																	0													28.0	29.0	29.0					7																	99817715		2203	4300	6503	SO:0001627	intron_variant	0			BC001129	CCDS5690.1	7q22.1	2013-06-26			ENSG00000213413	ENSG00000213413			32190	protein-coding gene	gene with protein product						16926269	Standard	NM_024070		Approved	MGC2463, C7orf15	uc003uuf.1	Q6DKI7	OTTHUMG00000156798	ENST00000317271.2:c.119-22C>T	7.37:g.99817715C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	D6W5U9|Q9BVK3	RNA	SNP	-	NULL	ENST00000317271.2	37	NULL	CCDS5690.1	7																																																																																			AC005071.1	-	-		0.642	PVRIG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000222482	Clone_based_ensembl_gene	protein_coding	OTTHUMT00000345870.2	C	NM_024070		99817715	-1	no_errors	ENST00000410550	ensembl	human	novel	70_37	rna	SNP	0.000	T
LOC101927587	101927587	genome.wustl.edu	37	1	84259638	84259638	+	lincRNA	DEL	A	A	-	rs111685871		TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr1:84259638delA	ENST00000439186.1	+	0	163				RP11-475O6.1_ENST00000417975.1_lincRNA|AL035706.1_ENST00000411299.1_RNA																							taatggcaTTAAAAAAAAAAC	0.318																																																	0																																												0																															1.37:g.84259638delA		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	DEL	-	NULL	ENST00000439186.1	37	NULL		1																																																																																			AL035706.1	-	-		0.318	RP5-836J3.1-001	KNOWN	basic|exp_conf	lincRNA	ENSG00000223231	Clone_based_ensembl_gene	lincRNA	OTTHUMT00000027497.1	A			84259638	+1	no_errors	ENST00000411299	ensembl	human	novel	70_37	rna	DEL	0.062	-
MYOM3	127294	genome.wustl.edu	37	1	24390550	24390550	+	Intron	SNP	G	G	A			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr1:24390550G>A	ENST00000374434.3	-	30	3785				RP11-293P20.2_ENST00000439239.2_RNA|MYOM3_ENST00000338909.5_Intron|RP11-293P20.4_ENST00000429191.1_RNA|MYOM3_ENST00000330966.7_Intron	NM_152372.3	NP_689585.3	Q5VTT5	MYOM3_HUMAN	myomesin 3							M band (GO:0031430)	protein homodimerization activity (GO:0042803)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(6)|large_intestine(3)|lung(40)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	68		Colorectal(325;3.55e-05)|Renal(390;0.000703)|Lung NSC(340;0.001)|all_lung(284;0.0014)|Ovarian(437;0.00351)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;5.31e-24)|Colorectal(126;7.52e-08)|COAD - Colon adenocarcinoma(152;4.01e-06)|GBM - Glioblastoma multiforme(114;4.36e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00108)|KIRC - Kidney renal clear cell carcinoma(1967;0.00404)|STAD - Stomach adenocarcinoma(196;0.00966)|READ - Rectum adenocarcinoma(331;0.0678)|Lung(427;0.153)		CTGACCCATCGCCAGCTCCTA	0.527																																																	0													88.0	97.0	94.0					1																	24390550		2134	4242	6376	SO:0001627	intron_variant	0			AK093280	CCDS41281.1	1p36	2013-02-11	2012-10-17		ENSG00000142661	ENSG00000142661		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	26679	protein-coding gene	gene with protein product			"""myomesin family, member 3"""			18177667	Standard	NM_152372		Approved	FLJ35961	uc001bin.4	Q5VTT5	OTTHUMG00000002969	ENST00000374434.3:c.3622+11C>T	1.37:g.24390550G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	A6NF75|Q5VTT6|Q6AWC0|Q6AWC1|Q6NXF9|Q6ZRG7|Q7Z3G9|Q8NA11|Q96C54	RNA	SNP	-	NULL	ENST00000374434.3	37	NULL	CCDS41281.1	1																																																																																			RP11-293P20.2	-	-		0.527	MYOM3-001	NOVEL	basic|appris_candidate|CCDS	protein_coding	ENSG00000225315	Clone_based_vega_gene	protein_coding	OTTHUMT00000008272.2	G	NM_152372		24390550	+1	no_errors	ENST00000439239	ensembl	human	known	70_37	rna	SNP	0.000	A
SCIN	85477	genome.wustl.edu	37	7	12610016	12610016	+	5'Flank	SNP	C	C	T	rs575353051		TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr7:12610016C>T	ENST00000297029.5	+	0	0				AC005281.2_ENST00000433040.1_RNA	NM_001112706.2	NP_001106177.1	Q9Y6U3	ADSV_HUMAN	scinderin						actin filament capping (GO:0051693)|actin filament severing (GO:0051014)|actin nucleation (GO:0045010)|calcium ion-dependent exocytosis (GO:0017156)|negative regulation of cell proliferation (GO:0008285)|positive regulation of apoptotic process (GO:0043065)|positive regulation of megakaryocyte differentiation (GO:0045654)|positive regulation of secretion (GO:0051047)|regulation of chondrocyte differentiation (GO:0032330)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)	1-phosphatidylinositol binding (GO:0005545)|actin binding (GO:0003779)|actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phosphatidylserine binding (GO:0001786)			endometrium(3)|kidney(1)|large_intestine(2)|lung(9)|ovary(2)	17				UCEC - Uterine corpus endometrioid carcinoma (126;0.195)		GGGAAATATGCAGGACGGTAG	0.498																																																	0																																										SO:0001631	upstream_gene_variant	0			AF276507	CCDS47545.1, CCDS47546.1	7p21.3	2006-04-25			ENSG00000006747	ENSG00000006747			21695	protein-coding gene	gene with protein product		613416					Standard	NM_033128		Approved	adseverin, KIAA1905	uc003ssn.4	Q9Y6U3	OTTHUMG00000152385		7.37:g.12610016C>T	Exception_encountered	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K2U8|Q8NBZ6|Q8WU97|Q96JC7|Q96PY2	RNA	SNP	-	NULL	ENST00000297029.5	37	NULL	CCDS47545.1	7																																																																																			AC005281.2	-	-		0.498	SCIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000225606	Clone_based_vega_gene	protein_coding	OTTHUMT00000326041.1	C	NM_033128		12610016	-1	no_errors	ENST00000433040	ensembl	human	known	70_37	rna	SNP	0.000	T
LINC01529	644050	genome.wustl.edu	37	19	36283127	36283127	+	lincRNA	SNP	G	G	A			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr19:36283127G>A	ENST00000433059.1	-	0	241					NR_104176.1																						GGGGCAGGCCGAGGGTAAGTC	0.637																																																	0																																												0																															19.37:g.36283127G>A		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000433059.1	37	NULL		19																																																																																			AC002398.5	-	-		0.637	AC002398.5-001	KNOWN	basic	lincRNA	ENSG00000225872	Clone_based_vega_gene	lincRNA	OTTHUMT00000109494.1	G			36283127	-1	no_errors	ENST00000567313	ensembl	human	known	70_37	rna	SNP	0.000	A
XXbac-BPG154L12.4	0	genome.wustl.edu	37	6	32231726	32231727	+	RNA	INS	-	-	T	rs558617602|rs534644400|rs9281702	byFrequency	TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr6:32231726_32231727insT	ENST00000425033.1	+	0	1569_1570																											ttctttctttCTtttttttttt	0.307													|||unknown(HR)	1163	0.232228	0.2141	0.1225	5008	,	,		16538	0.2917		0.2286	False		,,,				2504	0.2771																0																																												0																															6.37:g.32231737_32231737dupT		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	INS	-	NULL	ENST00000425033.1	37	NULL		6																																																																																			XXbac-BPG154L12.4	-	-		0.307	XXbac-BPG154L12.4-001	KNOWN	basic|exp_conf	antisense	ENSG00000225914	Clone_based_vega_gene	antisense	OTTHUMT00000316882.1	-			32231727	+1	no_errors	ENST00000425033	ensembl	human	known	70_37	rna	INS	0.372:0.374	T
ADGRF5P1	389740	genome.wustl.edu	37	9	66517208	66517208	+	RNA	SNP	C	C	T			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr9:66517208C>T	ENST00000590130.1	-	0	977																											CAGGTGTTGGCGACCAGAAGG	0.498																																																	0																																												0																															9.37:g.66517208C>T		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000590130.1	37	NULL		9																																																																																			RP11-262H14.7	-	-		0.498	RP11-262H14.7-002	KNOWN	basic	processed_transcript	ENSG00000227582	Clone_based_vega_gene	pseudogene	OTTHUMT00000459856.1	C			66517208	-1	no_errors	ENST00000590130	ensembl	human	known	70_37	rna	SNP	1.000	T
LOC100631378	100631378	genome.wustl.edu	37	19	38321988	38321988	+	lincRNA	SNP	A	A	G			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr19:38321988A>G	ENST00000443870.1	+	0	1798				AC016582.2_ENST00000592640.1_lincRNA																							GGATCTCTCCAGCCCTGTTTC	0.502																																																	0																																												0																															19.37:g.38321988A>G		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000443870.1	37	NULL		19																																																																																			CTD-2554C21.3	-	-		0.502	CTD-2554C21.3-001	KNOWN	basic	lincRNA	ENSG00000229481	Clone_based_vega_gene	lincRNA	OTTHUMT00000459795.1	A			38321988	+1	no_errors	ENST00000443870	ensembl	human	known	70_37	rna	SNP	0.952	G
LOC100631378	100631378	genome.wustl.edu	37	19	38322049	38322049	+	lincRNA	SNP	G	G	A			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr19:38322049G>A	ENST00000443870.1	+	0	1859				AC016582.2_ENST00000592640.1_lincRNA																							AGTGATGGAAGAGCCACTGGC	0.527																																																	0																																												0																															19.37:g.38322049G>A		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000443870.1	37	NULL		19																																																																																			CTD-2554C21.3	-	-		0.527	CTD-2554C21.3-001	KNOWN	basic	lincRNA	ENSG00000229481	Clone_based_vega_gene	lincRNA	OTTHUMT00000459795.1	G			38322049	+1	no_errors	ENST00000443870	ensembl	human	known	70_37	rna	SNP	0.514	A
ZMIZ1-AS1	283050	genome.wustl.edu	37	10	80763446	80763446	+	RNA	SNP	G	G	C			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr10:80763446G>C	ENST00000456353.1	-	0	1012				RP11-481G8.2_ENST00000427035.1_lincRNA	NR_024431.2				ZMIZ1 antisense RNA 1																		GCGGCCGCAAGAGACAGAAAT	0.552																																																	0																																												0					10q22.3	2013-02-15			ENSG00000224596	ENSG00000224596		"""Long non-coding RNAs"""	27433	non-coding RNA	RNA, long non-coding							Standard	NR_015429		Approved		uc001kab.1		OTTHUMG00000018559		10.37:g.80763446G>C		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000456353.1	37	NULL		10																																																																																			RP11-481G8.2	-	-		0.552	ZMIZ1-AS1-001	KNOWN	basic	antisense	ENSG00000229569	Clone_based_vega_gene	antisense	OTTHUMT00000048940.1	G	NR_024431		80763446	-1	no_errors	ENST00000427035	ensembl	human	known	70_37	rna	SNP	0.197	C
NCK2	8440	genome.wustl.edu	37	2	106471800	106471800	+	Intron	SNP	C	C	T			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr2:106471800C>T	ENST00000233154.4	+	3	668				NCK2_ENST00000522586.1_Intron|NCK2_ENST00000393349.2_Intron|AC009505.2_ENST00000596418.1_RNA|NCK2_ENST00000451463.2_Intron|AC009505.2_ENST00000598281.1_RNA|AC009505.2_ENST00000427050.2_RNA	NM_003581.4	NP_003572.2	O43639	NCK2_HUMAN	NCK adaptor protein 2						actin filament organization (GO:0007015)|axon guidance (GO:0007411)|cell migration (GO:0016477)|epidermal growth factor receptor signaling pathway (GO:0007173)|lamellipodium assembly (GO:0030032)|negative regulation of cell proliferation (GO:0008285)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of epidermal growth factor-activated receptor activity (GO:0007176)|regulation of translation (GO:0006417)|signal complex assembly (GO:0007172)|signal transduction (GO:0007165)|T cell activation (GO:0042110)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|vesicle membrane (GO:0012506)	cytoskeletal adaptor activity (GO:0008093)|receptor signaling complex scaffold activity (GO:0030159)			endometrium(1)|lung(3)|ovary(1)	5						GGACACTGTTCGTCTTTCTAG	0.383																																																	0																																										SO:0001627	intron_variant	0			AF043119	CCDS33266.1	2q12	2013-02-14			ENSG00000071051	ENSG00000071051		"""SH2 domain containing"""	7665	protein-coding gene	gene with protein product		604930				9737977, 16752908	Standard	NM_001004720		Approved	NCKbeta	uc002tdi.3	O43639	OTTHUMG00000153116	ENST00000233154.4:c.226+55C>T	2.37:g.106471800C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	D3DVK1|Q9BWN9|Q9UIC3	RNA	SNP	-	NULL	ENST00000233154.4	37	NULL	CCDS33266.1	2																																																																																			AC009505.2	-	-		0.383	NCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000235522	Clone_based_vega_gene	protein_coding	OTTHUMT00000329634.1	C	NM_003581		106471800	-1	no_errors	ENST00000598281	ensembl	human	known	70_37	rna	SNP	0.002	T
BHMG1	388553	genome.wustl.edu	37	19	46259260	46259260	+	Missense_Mutation	SNP	G	G	A	rs368086457		TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr19:46259260G>A	ENST00000457052.2	+	8	1251	c.835G>A	c.(835-837)Gca>Aca	p.A279T																								CCAGGATGACGCACCTTTCCC	0.607																																																	0																																										SO:0001583	missense	0																														ENST00000457052.2:c.835G>A	19.37:g.46259260G>A	ENSP00000402674:p.Ala279Thr	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_HMG_superfamily,pfam_HLH_dom,superfamily_HMG_superfamily,superfamily_HLH_dom,smart_HMG_superfamily,pfscan_HLH_dom,pfscan_HMG_superfamily	p.A279T	ENST00000457052.2	37	c.835		19	.	.	.	.	.	.	.	.	.	.	.	6.308	0.424885	0.11987	.	.	ENSG00000237452	ENST00000457052	D	0.96459	-4.02	3.99	1.86	0.25419	.	.	.	.	.	D	0.94892	0.8349	.	.	.	.	.	.	.	.	.	.	.	.	D	0.93910	0.7196	5	0.46703	T	0.11	.	6.7584	0.23526	0.2152:0.0:0.7848:0.0	.	.	.	.	T	279	ENSP00000402674:A279T	ENSP00000402674:A279T	A	+	1	0	AC074212.3	50951100	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.306000	0.19279	0.659000	0.30945	-1.449000	0.01048	GCA	AC074212.3	-	NULL		0.607	AC074212.3-001	PUTATIVE	basic|appris_principal|exp_conf	protein_coding	ENSG00000237452	Clone_based_vega_gene	protein_coding	OTTHUMT00000343318.3	G			46259260	+1	no_errors	ENST00000457052	ensembl	human	putative	70_37	missense	SNP	0.000	A
ARMC4P1	101060171	genome.wustl.edu	37	10	27551888	27551888	+	RNA	SNP	C	C	T			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr10:27551888C>T	ENST00000576034.1	+	0	144									armadillo repeat containing 4 pseudogene 1																		TGATGTAGTGCGTGTGCTAAG	0.493																																																	0																																												0					10p12.1	2012-12-19			ENSG00000238021	ENSG00000238021			44937	pseudogene	pseudogene							Standard	XM_006709935		Approved				OTTHUMG00000017856		10.37:g.27551888C>T		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000576034.1	37	NULL		10																																																																																			RP11-748L13.1	-	-		0.493	ARMC4P1-002	KNOWN	basic	processed_transcript	ENSG00000238021	Clone_based_vega_gene	pseudogene	OTTHUMT00000436997.1	C			27551888	+1	no_errors	ENST00000576034	ensembl	human	known	70_37	rna	SNP	0.001	T
MTHFD2P1	100287639	genome.wustl.edu	37	3	95374193	95374193	+	RNA	SNP	C	C	G			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr3:95374193C>G	ENST00000494840.1	-	0	1668					NR_077228.1				methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 2, methenyltetrahydrofolate cyclohydrolase pseudogene 1																		GGCATCATCTCTGGGACGTTC	0.433																																																	0																																												0					3q11.2	2013-06-19			ENSG00000244681	ENSG00000244681			48859	pseudogene	pseudogene							Standard	NR_077228		Approved				OTTHUMG00000159027		3.37:g.95374193C>G		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000494840.1	37	NULL		3																																																																																			RP11-219E24.1	-	-		0.433	MTHFD2P1-002	KNOWN	basic	processed_transcript	ENSG00000244681	Clone_based_vega_gene	pseudogene	OTTHUMT00000352943.1	C			95374193	-1	no_errors	ENST00000494840	ensembl	human	known	70_37	rna	SNP	1.000	G
RHOBTB3	22836	genome.wustl.edu	37	5	95067902	95067902	+	Intron	SNP	C	C	T			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr5:95067902C>T	ENST00000379982.3	+	2	736				CTD-2154I11.2_ENST00000512486.1_RNA|CTD-2154I11.2_ENST00000513235.1_RNA|RHOBTB3_ENST00000506817.1_3'UTR	NM_014899.3	NP_055714.3	O94955	RHBT3_HUMAN	Rho-related BTB domain containing 3						ATP catabolic process (GO:0006200)|retrograde transport, endosome to Golgi (GO:0042147)|small GTPase mediated signal transduction (GO:0007264)	Golgi apparatus (GO:0005794)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|GTP binding (GO:0005525)|Rab GTPase binding (GO:0017137)			breast(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|skin(1)	16		all_cancers(142;2.58e-06)|all_epithelial(76;4.19e-09)|all_lung(232;0.00307)|Lung NSC(167;0.00452)|Ovarian(225;0.0164)|Colorectal(57;0.0846)|Breast(839;0.198)		all cancers(79;8.79e-16)		TTACATGGGTCAAATTTTTAA	0.488																																																	0																																										SO:0001627	intron_variant	0			AB020685	CCDS4077.1	5q15	2014-05-09			ENSG00000164292	ENSG00000164292		"""BTB/POZ domain containing"""	18757	protein-coding gene	gene with protein product		607353				11222756, 17035353	Standard	NM_014899		Approved	KIAA0878	uc003klm.3	O94955	OTTHUMG00000121171	ENST00000379982.3:c.228+114C>T	5.37:g.95067902C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A0PJA4|A8K1W9|Q8IW06	RNA	SNP	-	NULL	ENST00000379982.3	37	NULL	CCDS4077.1	5																																																																																			CTD-2154I11.2	-	-		0.488	RHOBTB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000250240	Clone_based_vega_gene	protein_coding	OTTHUMT00000241658.1	C	NM_014899		95067902	-1	no_errors	ENST00000512486	ensembl	human	known	70_37	rna	SNP	0.000	T
PCDHA9	9752	genome.wustl.edu	37	5	140242427	140242427	+	Intron	SNP	G	G	A			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr5:140242427G>A	ENST00000532602.1	+	1	3427				PCDHA8_ENST00000531613.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron|AC005609.1_ENST00000502505.1_Silent_p.G183G|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA14_ENST00000562220.1_RNA|PCDHA5_ENST00000529619.1_Intron	NM_031857.1	NP_114063.1	Q9Y5H5	PCDA9_HUMAN	protocadherin alpha 9						homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(18)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	59			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGGGCATGCCGCCTCTGAGCA	0.637																																					Melanoma(55;1800 1972 14909)												0																																										SO:0001627	intron_variant	0			AF152487	CCDS54920.1	5q31	2010-11-26				ENSG00000204961		"""Cadherins / Protocadherins : Clustered"""	8675	other	complex locus constituent	"""KIAA0345-like 5"""	606315				10380929	Standard	NM_031857		Approved	KIAA0345, PCDH-ALPHA9		Q9Y5H5		ENST00000532602.1:c.2394+11953G>A	5.37:g.140242427G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	O15053|Q2M3S5	Silent	SNP	NULL	p.G183	ENST00000532602.1	37	c.549	CCDS54920.1	5																																																																																			AC005609.1	-	NULL		0.637	PCDHA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000249034	Clone_based_ensembl_gene	protein_coding	OTTHUMT00000372896.2	G	NM_031857		140242427	-1	no_errors	ENST00000502505	ensembl	human	known	70_37	silent	SNP	0.551	A
KRT73	319101	genome.wustl.edu	37	12	53004386	53004386	+	Intron	SNP	C	C	A			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr12:53004386C>A	ENST00000305748.3	-	7	1366				RP11-641A6.2_ENST00000551089.1_RNA|RP11-641A6.2_ENST00000549180.1_RNA|RP11-641A6.2_ENST00000552364.1_RNA	NM_175068.2	NP_778238.1	Q86Y46	K2C73_HUMAN	keratin 73							extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)|nucleus (GO:0005634)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(22)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	44				BRCA - Breast invasive adenocarcinoma(357;0.189)		TCCAGTCCCTCGGTCCCACCC	0.597																																																	0													59.0	55.0	57.0					12																	53004386		2203	4300	6503	SO:0001627	intron_variant	0			AJ508776	CCDS8834.1	12q13.13	2013-06-25			ENSG00000186049	ENSG00000186049		"""-"", ""Intermediate filaments type II, keratins (basic)"""	28928	protein-coding gene	gene with protein product		608247				12648212, 16831889	Standard	NM_175068		Approved	KRT6IRS3, K6IRS3	uc001sas.3	Q86Y46	OTTHUMG00000169746	ENST00000305748.3:c.1331+12G>T	12.37:g.53004386C>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q32MB2	RNA	SNP	-	NULL	ENST00000305748.3	37	NULL	CCDS8834.1	12																																																																																			RP11-641A6.2	-	-		0.597	KRT73-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000257495	Clone_based_vega_gene	protein_coding	OTTHUMT00000405700.1	C	NM_175068		53004386	+1	no_errors	ENST00000552364	ensembl	human	known	70_37	rna	SNP	0.000	A
ZC3H10	84872	genome.wustl.edu	37	12	56512855	56512856	+	Intron	INS	-	-	T	rs375935758		TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr12:56512855_56512856insT	ENST00000257940.2	+	2	160				ZC3H10_ENST00000549973.1_Intron|RP11-603J24.6_ENST00000550840.1_RNA|RP11-603J24.5_ENST00000550947.1_RNA|RP11-603J24.5_ENST00000549438.1_RNA	NM_032786.1	NP_116175.1	Q96K80	ZC3HA_HUMAN	zinc finger CCCH-type containing 10								metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(4)|large_intestine(1)|lung(2)|prostate(2)|skin(1)	11			OV - Ovarian serous cystadenocarcinoma(18;0.12)			CCAAGTCTCTGTTTTTTTCCTG	0.515											OREG0021917	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0																																										SO:0001627	intron_variant	0			BC018708	CCDS8903.1	12q13.2	2012-07-05	2005-06-02	2005-06-02		ENSG00000135482		"""Zinc fingers, CCCH-type domain containing"""	25893	protein-coding gene	gene with protein product			"""zinc finger CCCH-type domain containing 10"""	ZC3HDC10		12477932	Standard	NM_032786		Approved	FLJ14451	uc001sjp.1	Q96K80		ENST00000257940.2:c.-116-16->T	12.37:g.56512862_56512862dupT		Somatic	1016	WXS	Illumina HiSeq	Phase_IV		RNA	INS	-	NULL	ENST00000257940.2	37	NULL	CCDS8903.1	12																																																																																			RP11-603J24.6	-	-		0.515	ZC3H10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000258345	Clone_based_vega_gene	protein_coding	OTTHUMT00000407826.1	-	NM_032786		56512856	-1	no_errors	ENST00000550840	ensembl	human	known	70_37	rna	INS	0.006:0.036	T
SNUPN	10073	genome.wustl.edu	37	15	75917230	75917230	+	5'UTR	SNP	C	C	T			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr15:75917230C>T	ENST00000564644.1	-	0	399				SNUPN_ENST00000371091.5_5'UTR|SNUPN_ENST00000567134.1_Intron|CTD-2026K11.3_ENST00000566036.1_RNA|SNUPN_ENST00000564675.1_Intron|SNUPN_ENST00000308588.5_Intron			O95149	SPN1_HUMAN	snurportin 1						gene expression (GO:0010467)|ncRNA metabolic process (GO:0034660)|protein import into nucleus (GO:0006606)|RNA metabolic process (GO:0016070)|snRNA import into nucleus (GO:0061015)|spliceosomal snRNP assembly (GO:0000387)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nuclear pore (GO:0005643)	protein transporter activity (GO:0008565)|RNA cap binding (GO:0000339)			endometrium(2)|large_intestine(3)|lung(2)|pancreas(1)	8						tctcctgcctcagcctcccga	0.532																																																	0																																										SO:0001623	5_prime_UTR_variant	0			AF039029	CCDS10281.1	15q24.2	2008-02-05	2006-07-14	2006-07-14	ENSG00000169371	ENSG00000169371			14245	protein-coding gene	gene with protein product		607902	"""RNA, U transporter 1"""	RNUT1		9670026	Standard	NM_005701		Approved	SNURPORTIN-1, Snurportin1	uc002bas.3	O95149	OTTHUMG00000142833	ENST00000564644.1:c.-180G>A	15.37:g.75917230C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A6NE34|A8K0B0|D3DW76	RNA	SNP	-	NULL	ENST00000564644.1	37	NULL	CCDS10281.1	15																																																																																			CTD-2026K11.3	-	-		0.532	SNUPN-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000260235	Clone_based_vega_gene	protein_coding	OTTHUMT00000420332.1	C	NM_005701		75917230	+1	no_errors	ENST00000566036	ensembl	human	known	70_37	rna	SNP	0.962	T
FRG2DP	146481	genome.wustl.edu	37	16	34712972	34712972	+	RNA	SNP	A	A	C			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr16:34712972A>C	ENST00000569028.2	-	0	382																											TTTGGGGGAAAAAGGCAAAAT	0.433																																																	0																																												0																															16.37:g.34712972A>C		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000569028.2	37	NULL		16																																																																																			RP11-80F22.9	-	-		0.433	RP11-80F22.9-002	KNOWN	basic	processed_transcript	ENSG00000261711	Clone_based_vega_gene	pseudogene	OTTHUMT00000431372.2	A			34712972	-1	no_errors	ENST00000569028	ensembl	human	known	70_37	rna	SNP	0.004	C
MLLT1	4298	genome.wustl.edu	37	19	6211408	6211408	+	IGR	SNP	G	G	T			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr19:6211408G>T	ENST00000252674.7	-	0	1931				MLLT1_ENST00000585588.1_5'Flank|CTC-503J8.6_ENST00000586154.1_lincRNA	NM_005934.3	NP_005925.2	Q03111	ENL_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 1						negative regulation of protein kinase activity (GO:0006469)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)	DNA binding (GO:0003677)			endometrium(3)|kidney(3)|large_intestine(2)|lung(5)|prostate(2)|skin(2)	17						GTTCTGGGGAGTTTCCCCAGG	0.617			T	MLL	AL																																			Dom	yes		19	19p13.3	4298	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 1 (ENL)"""		L	0																																										SO:0001628	intergenic_variant	0				CCDS12160.1	19p13.3	2012-10-04	2001-11-28		ENSG00000130382	ENSG00000130382			7134	protein-coding gene	gene with protein product		159556	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 1"""				Standard	XM_005259561		Approved	ENL, LTG19, YEATS1	uc002mek.3	Q03111	OTTHUMG00000180757		19.37:g.6211408G>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q14768	RNA	SNP	-	NULL	ENST00000252674.7	37	NULL	CCDS12160.1	19																																																																																			CTC-503J8.6	-	-		0.617	MLLT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000267427	Clone_based_vega_gene	protein_coding	OTTHUMT00000452909.1	G	NM_005934		6211408	-1	no_errors	ENST00000586154	ensembl	human	known	70_37	rna	SNP	0.002	T
SUV420H2	84787	genome.wustl.edu	37	19	55856278	55856278	+	Intron	SNP	G	G	A	rs539100092		TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr19:55856278G>A	ENST00000255613.3	+	6	818				AC020922.1_ENST00000539076.1_Missense_Mutation_p.D62N|SUV420H2_ENST00000402499.4_3'UTR	NM_032701.3	NP_116090.2	Q86Y97	SV422_HUMAN	suppressor of variegation 4-20 homolog 2 (Drosophila)						histone H4-K20 trimethylation (GO:0034773)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	condensed nuclear chromosome, centromeric region (GO:0000780)|nuclear heterochromatin (GO:0005720)|nucleus (GO:0005634)|pericentric heterochromatin (GO:0005721)	histone methyltransferase activity (H4-K20 specific) (GO:0042799)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|lung(2)	4	Breast(117;0.191)		BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.044)		GGGTCCTGGCGATGCCACCCC	0.587													G|||	1	0.000199681	0.0008	0.0	5008	,	,		15165	0.0		0.0	False		,,,				2504	0.0																0																																										SO:0001627	intron_variant	0			BC005842	CCDS12922.1	19q13.42	2011-07-01			ENSG00000133247	ENSG00000133247		"""Chromatin-modifying enzymes / K-methyltransferases"""	28405	protein-coding gene	gene with protein product		613198				12477932	Standard	NM_032701		Approved	MGC2705, KMT5C	uc002qkj.4	Q86Y97	OTTHUMG00000150483	ENST00000255613.3:c.570+913G>A	19.37:g.55856278G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q8WZ10|Q9BRZ6	Missense_Mutation	SNP	NULL	p.D62N	ENST00000255613.3	37	c.184	CCDS12922.1	19	.	.	.	.	.	.	.	.	.	.	G	13.94	2.386534	0.42308	.	.	ENSG00000133247	ENST00000539076	.	.	.	2.71	-4.2	0.03823	.	.	.	.	.	T	0.21387	0.0515	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.31641	-0.9936	4	.	.	.	.	5.3124	0.15837	0.0:0.2797:0.4401:0.2802	.	.	.	.	N	62	.	.	D	+	1	0	SUV420H2	60548090	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.261000	0.08694	-0.737000	0.04824	-0.376000	0.06991	GAT	SUV420H2	-	NULL		0.587	SUV420H2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000267531	Uniprot_genename	protein_coding	OTTHUMT00000318309.2	G	NM_032701		55856278	+1	no_errors	ENST00000539076	ensembl	human	known	70_37	missense	SNP	0.000	A
CNP	1267	genome.wustl.edu	37	17	40128491	40128491	+	3'UTR	SNP	T	T	C	rs12950546		TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr17:40128491T>C	ENST00000393892.3	+	0	3959				DNAJC7_ENST00000457167.4_3'UTR	NM_033133.4	NP_149124.3	P09543	CN37_HUMAN	2',3'-cyclic nucleotide 3' phosphodiesterase						adult locomotory behavior (GO:0008344)|aging (GO:0007568)|axonogenesis (GO:0007409)|cyclic nucleotide catabolic process (GO:0009214)|microtubule cytoskeleton organization (GO:0000226)|oligodendrocyte differentiation (GO:0048709)|regulation of mitochondrial membrane permeability (GO:0046902)|response to lipopolysaccharide (GO:0032496)|response to toxic substance (GO:0009636)|substantia nigra development (GO:0021762)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|microtubule (GO:0005874)|microvillus (GO:0005902)|mitochondrial inner membrane (GO:0005743)|mitochondrial outer membrane (GO:0005741)|myelin sheath abaxonal region (GO:0035748)|myelin sheath adaxonal region (GO:0035749)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|pseudopodium (GO:0031143)	2',3'-cyclic-nucleotide 3'-phosphodiesterase activity (GO:0004113)|cyclic nucleotide binding (GO:0030551)|RNA binding (GO:0003723)			breast(1)|kidney(2)|large_intestine(1)|lung(4)|upper_aerodigestive_tract(1)	9		all_cancers(22;2.38e-06)|all_epithelial(22;6.79e-05)|Breast(137;0.000143)		UCEC - Uterine corpus endometrioid carcinoma (308;0.171)		TTTTTTTTTCTTTTTTAATAA	0.483																																																	0																																										SO:0001624	3_prime_UTR_variant	0				CCDS11414.2	17q21	2008-02-05			ENSG00000173786	ENSG00000173786	3.1.4.37		2158	protein-coding gene	gene with protein product		123830				1322358	Standard	XM_006721701		Approved		uc002hyl.1	P09543	OTTHUMG00000133502	ENST00000393892.3:c.*2549T>C	17.37:g.40128491T>C		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000393892.3	37	NULL	CCDS11414.2	17																																																																																			RP11-229E13.2	-	-		0.483	CNP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENSG00000267548	Clone_based_vega_gene	protein_coding	OTTHUMT00000257443.2	T			40128491	+1	no_errors	ENST00000590979	ensembl	human	known	70_37	rna	SNP	0.859	C
SP9	100131390	genome.wustl.edu	37	2	175201865	175201865	+	Missense_Mutation	SNP	C	C	T			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr2:175201865C>T	ENST00000394967.2	+	2	1199	c.1052C>T	c.(1051-1053)gCg>gTg	p.A351V	AC018470.1_ENST00000595354.1_Missense_Mutation_p.R96H	NM_001145250.1	NP_001138722.1	P0CG40	SP9_HUMAN	Sp9 transcription factor	351					embryonic limb morphogenesis (GO:0030326)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			lung(1)	1						CACCTGAAGGCGCACCTGCGC	0.716																																																	0													11.0	14.0	13.0					2																	175201865		689	1589	2278	SO:0001583	missense	0				CCDS46453.1	2q31.1	2013-01-08	2012-12-07		ENSG00000217236	ENSG00000217236		"""Specificity protein transcription factors"", ""Zinc fingers, C2H2-type"""	30690	protein-coding gene	gene with protein product	"""zinc finger protein 990"""		"""Sp9 transcription factor homolog (mouse)"""				Standard	NM_001145250		Approved	ZNF990	uc010zem.1	P0CG40	OTTHUMG00000150371	ENST00000394967.2:c.1052C>T	2.37:g.175201865C>T	ENSP00000378418:p.Ala351Val	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	NULL	p.R96H	ENST00000394967.2	37	c.287	CCDS46453.1	2	.	.	.	.	.	.	.	.	.	.	C	24.3	4.511035	0.85389	.	.	ENSG00000217236	ENST00000394967	T	0.18174	2.23	2.92	2.92	0.33932	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.26846	0.0657	L	0.31157	0.91	0.44937	D	0.997954	D	0.89917	1.0	D	0.97110	1.0	T	0.03051	-1.1078	9	0.87932	D	0	.	10.024	0.42059	0.2023:0.7976:0.0:0.0	.	351	P0CG40	SP9_HUMAN	V	351	ENSP00000378418:A351V	ENSP00000378418:A351V	A	+	2	0	SP9	174910111	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	5.227000	0.65305	1.455000	0.47813	0.400000	0.26472	GCG	AC018470.1	-	NULL		0.716	SP9-001	NOVEL	not_organism_supported|not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	ENSG00000268241	Clone_based_ensembl_gene	protein_coding	OTTHUMT00000317878.1	C	NM_001145250		175201865	-1	no_errors	ENST00000595354	ensembl	human	known	70_37	missense	SNP	1.000	T
SMIM3	85027	genome.wustl.edu	37	5	150158371	150158371	+	5'UTR	SNP	C	C	A			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr5:150158371C>A	ENST00000526627.1	+	0	864				AC010441.1_ENST00000600109.1_Silent_p.P80P	NM_032947.4	NP_116565.3	Q9BZL3	SMIM3_HUMAN	small integral membrane protein 3							integral component of membrane (GO:0016021)											TCCCGCCTCCCGGGGCTCGGA	0.756																																																	0													4.0	5.0	4.0					5																	150158371		1742	3883	5625	SO:0001623	5_prime_UTR_variant	0			AF313413	CCDS47312.1, CCDS47312.2	5q33.1	2012-10-01	2012-10-01	2012-10-01	ENSG00000256235	ENSG00000256235			30248	protein-coding gene	gene with protein product		608324	"""chromosome 5 open reading frame 62"""	C5orf62		11288140	Standard	NM_032947		Approved	MSTP150, NID67	uc003lsw.3	Q9BZL3	OTTHUMG00000163646	ENST00000526627.1:c.-175C>A	5.37:g.150158371C>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q3MIG3|Q6ZUV4	Silent	SNP	NULL	p.P80	ENST00000526627.1	37	c.240	CCDS47312.2	5																																																																																			AC010441.1	-	NULL		0.756	SMIM3-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	ENSG00000269636	Clone_based_ensembl_gene	protein_coding	OTTHUMT00000374647.2	C	NM_032947		150158371	+1	no_errors	ENST00000600109	ensembl	human	known	70_37	silent	SNP	0.009	A
ENTHD2	146705	genome.wustl.edu	37	17	79202880	79202880	+	Silent	SNP	G	G	A			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr17:79202880G>A	ENST00000300714.3	-	12	1483	c.1426C>T	c.(1426-1428)Ctg>Ttg	p.L476L	AC027601.1_ENST00000575922.1_RNA|ENTHD2_ENST00000374769.2_Silent_p.L392L|AC027601.1_ENST00000569559.1_RNA	NM_144679.2	NP_653280.1	Q96N21	AP4AT_HUMAN	ENTH domain containing 2	476						cytoplasmic vesicle (GO:0031410)											CAGGCCACCAGCTCCATGCCA	0.687																																																	0													35.0	39.0	37.0					17																	79202880		2203	4300	6503	SO:0001819	synonymous_variant	146705			AK056090	CCDS11779.1	17q25.3	2012-07-18	2012-07-18	2012-07-18	ENSG00000167302	ENSG00000167302			26458	protein-coding gene	gene with protein product			"""chromosome 17 open reading frame 56"""	C17orf56			Standard	NM_144679		Approved	FLJ31528	uc002jzu.2	Q96N21	OTTHUMG00000177866	ENST00000300714.3:c.1426C>T	17.37:g.79202880G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q6ZQU0|Q6ZSQ9	Silent	SNP	pfam_Epsin_dom_N,superfamily_ENTH_VHS	p.L476	ENST00000300714.3	37	c.1426	CCDS11779.1	17																																																																																			ENTHD2	-	NULL		0.687	ENTHD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ENTHD2	HGNC	protein_coding	OTTHUMT00000439315.1	G	NM_144679		79202880	-1	no_errors	ENST00000300714	ensembl	human	known	70_37	silent	SNP	1.000	A
EP300	2033	genome.wustl.edu	37	22	41537053	41537053	+	Splice_Site	SNP	C	C	T			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr22:41537053C>T	ENST00000263253.7	+	10	3099	c.1880C>T	c.(1879-1881)gCg>gTg	p.A627V		NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300	627	KIX. {ECO:0000255|PROSITE- ProRule:PRU00311}.				apoptotic process (GO:0006915)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|circadian rhythm (GO:0007623)|G2/M transition of mitotic cell cycle (GO:0000086)|heart development (GO:0007507)|histone H2B acetylation (GO:0043969)|histone H4 acetylation (GO:0043967)|innate immune response (GO:0045087)|internal peptidyl-lysine acetylation (GO:0018393)|internal protein amino acid acetylation (GO:0006475)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|lung development (GO:0030324)|mitotic cell cycle (GO:0000278)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of protein binding (GO:0032092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of cell cycle (GO:0051726)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|regulation of tubulin deacetylation (GO:0090043)|response to estrogen (GO:0043627)|response to hypoxia (GO:0001666)|skeletal muscle tissue development (GO:0007519)|somitogenesis (GO:0001756)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|activating transcription factor binding (GO:0033613)|androgen receptor binding (GO:0050681)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine N-acetyltransferase activity, acting on acetyl phosphate as donor (GO:0004468)|nuclear hormone receptor binding (GO:0035257)|pre-mRNA intronic binding (GO:0097157)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transferase activity, transferring acyl groups (GO:0016746)|zinc ion binding (GO:0008270)			NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						ATTCAAAAGGCGGAATACTAC	0.348			"""T,  N, F, Mis, O"""	"""MLL, RUNXBP2"""	"""colorectal, breast, pancreatic, AML, ALL, DLBCL"""				Rubinstein-Taybi syndrome																															Rec	yes		22	22q13	2033	300 kd E1A-Binding protein gene		"""L, E"""	0													38.0	38.0	38.0					22																	41537053		2203	4300	6503	SO:0001630	splice_region_variant	2033	Familial Cancer Database	Broad Thumb-Hallux syndrome	U01877	CCDS14010.1	22q13.2	2011-07-01			ENSG00000100393	ENSG00000100393		"""Chromatin-modifying enzymes / K-acetyltransferases"""	3373	protein-coding gene	gene with protein product	"""histone acetyltransferase p300"""	602700				7523245	Standard	NM_001429		Approved	p300, KAT3B	uc003azl.4	Q09472	OTTHUMG00000150937	ENST00000263253.7:c.1879-1C>T	22.37:g.41537053C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B1AKC2	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.A627V	ENST00000263253.7	37	c.1880	CCDS14010.1	22	.	.	.	.	.	.	.	.	.	.	C	22.2	4.254760	0.80135	.	.	ENSG00000100393	ENST00000263253	D	0.83755	-1.76	5.18	5.18	0.71444	Coactivator CBP, KIX (4);	0.142200	0.31301	N	0.007884	D	0.85544	0.5721	N	0.22421	0.69	0.46376	D	0.999015	D	0.76494	0.999	D	0.77557	0.99	D	0.87025	0.2131	10	0.56958	D	0.05	-6.4669	17.2256	0.86969	0.0:1.0:0.0:0.0	.	627	Q09472	EP300_HUMAN	V	627	ENSP00000263253:A627V	ENSP00000263253:A627V	A	+	2	0	EP300	39866999	0.958000	0.32768	1.000000	0.80357	0.947000	0.59692	1.978000	0.40598	2.561000	0.86390	0.467000	0.42956	GCG	EP300	-	pfam_KIX,superfamily_KIX,pfscan_KIX		0.348	EP300-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EP300	HGNC	protein_coding	OTTHUMT00000320600.1	C	NM_001429	Missense_Mutation	41537053	+1	no_errors	ENST00000263253	ensembl	human	known	70_37	missense	SNP	1.000	T
EPB41L2	2037	genome.wustl.edu	37	6	131179308	131179308	+	Missense_Mutation	SNP	C	C	G			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr6:131179308C>G	ENST00000337057.3	-	19	3167	c.2986G>C	c.(2986-2988)Gaa>Caa	p.E996Q	EPB41L2_ENST00000525271.1_Missense_Mutation_p.E664Q|EPB41L2_ENST00000527659.1_Missense_Mutation_p.E802Q|EPB41L2_ENST00000528282.1_Missense_Mutation_p.E738Q|EPB41L2_ENST00000445890.2_Missense_Mutation_p.E738Q|EPB41L2_ENST00000527411.1_Missense_Mutation_p.E926Q|EPB41L2_ENST00000531410.1_Missense_Mutation_p.E117Q|EPB41L2_ENST00000530481.1_Missense_Mutation_p.E843Q|EPB41L2_ENST00000392427.3_Missense_Mutation_p.E664Q|EPB41L2_ENST00000529208.1_Missense_Mutation_p.E926Q|EPB41L2_ENST00000368128.2_Missense_Mutation_p.E996Q|EPB41L2_ENST00000524581.1_Missense_Mutation_p.E374Q|EPB41L2_ENST00000530757.1_Missense_Mutation_p.E192Q|EPB41L2_ENST00000525193.1_Missense_Mutation_p.E697Q	NM_001431.3	NP_001422.1	O43491	E41L2_HUMAN	erythrocyte membrane protein band 4.1-like 2	996	C-terminal (CTD).				cortical actin cytoskeleton organization (GO:0030866)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|spectrin (GO:0008091)	structural molecule activity (GO:0005198)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|large_intestine(7)|lung(23)|prostate(1)|skin(2)	44	Breast(56;0.0639)			OV - Ovarian serous cystadenocarcinoma(155;0.0271)|GBM - Glioblastoma multiforme(226;0.0355)		AACTCTGTTTCTTTGTGTACC	0.527																																																	0													356.0	256.0	290.0					6																	131179308		2203	4300	6503	SO:0001583	missense	2037			AF027299	CCDS5141.1, CCDS47474.1, CCDS56450.1, CCDS59037.1	6q23	2008-08-29			ENSG00000079819	ENSG00000079819			3379	protein-coding gene	gene with protein product		603237				9598318, 9828140	Standard	NM_001431		Approved	4.1-G	uc003qch.2	O43491	OTTHUMG00000015560	ENST00000337057.3:c.2986G>C	6.37:g.131179308C>G	ENSP00000338481:p.Glu996Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	B4DHI8|E9PPD9|Q5T4F0|Q68DV2	Missense_Mutation	SNP	pirsf_Band_41_protein,pfam_Band_4.1_C,pfam_SAB,pfam_FERM_N,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_FERM-adjacent,superfamily_FERM_central,smart_Band_41_domain,prints_Band_41_fam,prints_Ez/rad/moesin,pfscan_FERM_domain	p.E996Q	ENST00000337057.3	37	c.2986	CCDS5141.1	6	.	.	.	.	.	.	.	.	.	.	C	24.9	4.577903	0.86645	.	.	ENSG00000079819	ENST00000531410;ENST00000528282;ENST00000530481;ENST00000445890;ENST00000337057;ENST00000530757;ENST00000392427;ENST00000368128;ENST00000527411;ENST00000524581;ENST00000525271;ENST00000525193;ENST00000527659;ENST00000529208	D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.84516	-1.86;-1.86;-1.86;-1.86;-1.86;-1.86;-1.86;-1.86;-1.86;-1.86;-1.86;-1.86;-1.86;-1.86	6.16	6.16	0.99307	Band 4.1, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.92126	0.7504	M	0.75777	2.31	0.58432	D	0.999995	D;D;D;D;D;D	0.89917	0.998;0.996;1.0;0.974;1.0;1.0	D;D;D;D;D;D	0.91635	0.995;0.966;0.999;0.957;0.999;0.997	D	0.91493	0.5213	10	0.87932	D	0	.	20.8598	0.99761	0.0:1.0:0.0:0.0	.	664;843;996;738;374;163	B4DHI8;E9PPD9;O43491;Q68DV2;Q6R5J7;Q9UG62	.;.;E41L2_HUMAN;.;.;.	Q	117;738;843;738;996;192;664;996;926;374;664;697;802;926	ENSP00000434596:E117Q;ENSP00000434308:E738Q;ENSP00000434576:E843Q;ENSP00000402041:E738Q;ENSP00000338481:E996Q;ENSP00000436349:E192Q;ENSP00000376222:E664Q;ENSP00000357110:E996Q;ENSP00000436348:E926Q;ENSP00000437207:E374Q;ENSP00000432803:E664Q;ENSP00000431988:E697Q;ENSP00000431647:E802Q;ENSP00000436641:E926Q	ENSP00000338481:E996Q	E	-	1	0	EPB41L2	131221001	1.000000	0.71417	0.991000	0.47740	0.840000	0.47671	7.463000	0.80869	2.937000	0.99478	0.650000	0.86243	GAA	EPB41L2	-	pirsf_Band_41_protein,pfam_Band_4.1_C		0.527	EPB41L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EPB41L2	HGNC	protein_coding	OTTHUMT00000042204.3	C			131179308	-1	no_errors	ENST00000337057	ensembl	human	known	70_37	missense	SNP	1.000	G
EPHA5	2044	genome.wustl.edu	37	4	66361197	66361197	+	Missense_Mutation	SNP	G	G	T			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr4:66361197G>T	ENST00000273854.3	-	4	1575	c.975C>A	c.(973-975)caC>caA	p.H325Q	EPHA5_ENST00000511294.1_Missense_Mutation_p.H325Q|EPHA5_ENST00000354839.4_Missense_Mutation_p.H325Q|EPHA5_ENST00000432638.2_Intron	NM_001281765.1|NM_004439.5	NP_001268694.1|NP_004430.4	P54756	EPHA5_HUMAN	EPH receptor A5	325	Cys-rich.				axon guidance (GO:0007411)|cAMP-mediated signaling (GO:0019933)|ephrin receptor signaling pathway (GO:0048013)|hippocampus development (GO:0021766)|negative regulation of synapse assembly (GO:0051964)|neuron development (GO:0048666)|positive regulation of CREB transcription factor activity (GO:0032793)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|regulation of Rac GTPase activity (GO:0032314)	dendrite (GO:0030425)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|GPI-linked ephrin receptor activity (GO:0005004)|transmembrane-ephrin receptor activity (GO:0005005)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	142						GGGTATAACTGTGAGGTGGAC	0.463										TSP Lung(17;0.13)																																							0													150.0	148.0	149.0					4																	66361197		2203	4300	6503	SO:0001583	missense	2044			L36644	CCDS3513.1, CCDS3514.1, CCDS75131.1, CCDS75132.1, CCDS75133.1	4q13.1	2013-02-11	2004-10-28		ENSG00000145242	ENSG00000145242		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3389	protein-coding gene	gene with protein product		600004	"""EphA5"""			9267020, 7528718	Standard	NM_004439		Approved	Hek7, TYRO4, CEK7, EHK1	uc003hcy.3	P54756	OTTHUMG00000129273	ENST00000273854.3:c.975C>A	4.37:g.66361197G>T	ENSP00000273854:p.His325Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	Q7Z3F2	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_cat_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,pirsf_Tyr_kinase_ephrin_rcpt,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.H325Q	ENST00000273854.3	37	c.975	CCDS3513.1	4	.	.	.	.	.	.	.	.	.	.	G	20.9	4.064327	0.76187	.	.	ENSG00000145242	ENST00000273854;ENST00000354839;ENST00000511294	T;T;T	0.73152	-0.72;-0.69;-0.71	5.91	5.91	0.95273	.	0.000000	0.56097	D	0.000025	T	0.77391	0.4123	M	0.75884	2.315	0.44880	D	0.997897	B;B;B;P	0.48503	0.059;0.389;0.097;0.911	B;B;B;P	0.45829	0.04;0.254;0.086;0.494	T	0.80308	-0.1437	10	0.87932	D	0	.	20.2956	0.98549	0.0:0.0:1.0:0.0	.	325;325;325;325	B7ZKW7;B7ZKJ3;P54756-2;P54756	.;.;.;EPHA5_HUMAN	Q	325	ENSP00000273854:H325Q;ENSP00000346899:H325Q;ENSP00000427638:H325Q	ENSP00000273854:H325Q	H	-	3	2	EPHA5	66043792	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.198000	0.65147	2.805000	0.96524	0.460000	0.39030	CAC	EPHA5	-	superfamily_Growth_fac_rcpt,pirsf_Tyr_kinase_ephrin_rcpt		0.463	EPHA5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	EPHA5	HGNC	protein_coding	OTTHUMT00000251388.2	G	NM_004439		66361197	-1	no_errors	ENST00000273854	ensembl	human	known	70_37	missense	SNP	1.000	T
EPHB3	2049	genome.wustl.edu	37	3	184294913	184294913	+	Silent	SNP	G	G	A			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr3:184294913G>A	ENST00000330394.2	+	5	1748	c.1296G>A	c.(1294-1296)tcG>tcA	p.S432S	EIF2B5_ENST00000444495.1_Intron	NM_004443.3	NP_004434.2	P54753	EPHB3_HUMAN	EPH receptor B3	432	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|cell migration (GO:0016477)|central nervous system projection neuron axonogenesis (GO:0021952)|corpus callosum development (GO:0022038)|dendritic spine development (GO:0060996)|dendritic spine morphogenesis (GO:0060997)|digestive tract morphogenesis (GO:0048546)|ephrin receptor signaling pathway (GO:0048013)|palate development (GO:0060021)|positive regulation of synapse assembly (GO:0051965)|protein autophosphorylation (GO:0046777)|regulation of axonogenesis (GO:0050770)|regulation of Cdc42 GTPase activity (GO:0043088)|regulation of cell-cell adhesion (GO:0022407)|regulation of Rac GTPase activity (GO:0032314)|retinal ganglion cell axon guidance (GO:0031290)|substrate adhesion-dependent cell spreading (GO:0034446)|thymus development (GO:0048538)|urogenital system development (GO:0001655)	cell projection (GO:0042995)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|axon guidance receptor activity (GO:0008046)|ephrin receptor activity (GO:0005003)			breast(5)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(22)|ovary(5)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	51	all_cancers(143;1.89e-10)|Ovarian(172;0.0339)		Epithelial(37;1.27e-34)|OV - Ovarian serous cystadenocarcinoma(80;3.8e-22)			ACGGTGTCTCGGGCAAGAGCC	0.642																																																	0													42.0	39.0	40.0					3																	184294913		2203	4300	6503	SO:0001819	synonymous_variant	2049			X75208	CCDS3268.1	3q27.1	2013-09-19	2004-10-28		ENSG00000182580	ENSG00000182580		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3394	protein-coding gene	gene with protein product		601839	"""EphB3"""	ETK2		8397371	Standard	NM_004443		Approved	Hek2, Tyro6	uc003foz.3	P54753	OTTHUMG00000156710	ENST00000330394.2:c.1296G>A	3.37:g.184294913G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q7Z740	Silent	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ephrin_rcpt_lig-bd_dom,pfam_Prot_kinase_cat_dom,pfam_Fibronectin_type3,pfam_SAM_type1,pfam_SAM_2,pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Galactose-bd-like,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_SAM/pointed,superfamily_Growth_fac_rcpt,smart_Ephrin_rcpt_lig-bd_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_SAM,pirsf_Tyr_kinase_ephrin_rcpt,pfscan_Fibronectin_type3,pfscan_SAM,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.S432	ENST00000330394.2	37	c.1296	CCDS3268.1	3																																																																																			EPHB3	-	pfam_Fibronectin_type3,smart_Fibronectin_type3,pirsf_Tyr_kinase_ephrin_rcpt,pfscan_Fibronectin_type3		0.642	EPHB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EPHB3	HGNC	protein_coding	OTTHUMT00000345413.1	G	NM_004443		184294913	+1	no_errors	ENST00000330394	ensembl	human	known	70_37	silent	SNP	0.964	A
EPN1	29924	genome.wustl.edu	37	19	56196968	56196968	+	Silent	SNP	G	G	A	rs566004707	byFrequency	TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr19:56196968G>A	ENST00000270460.6	+	3	746	c.435G>A	c.(433-435)gcG>gcA	p.A145A	EPN1_ENST00000591743.1_3'UTR|AC010525.2_ENST00000390145.1_RNA|EPN1_ENST00000085079.7_Silent_p.A145A|EPN1_ENST00000411543.2_Silent_p.A256A	NM_001130072.1	NP_001123544.1	Q9Y6I3	EPN1_HUMAN	epsin 1	145					embryonic organ development (GO:0048568)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|female pregnancy (GO:0007565)|in utero embryonic development (GO:0001701)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|Notch signaling pathway (GO:0007219)	coated pit (GO:0005905)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)			endometrium(5)|kidney(1)|large_intestine(2)|lung(8)|skin(1)	17		Colorectal(82;0.00244)|Ovarian(87;0.133)		GBM - Glioblastoma multiforme(193;0.112)		AAGAGCGGGCGCACGCGCTCA	0.682													G|||	3	0.000599042	0.0023	0.0	5008	,	,		14820	0.0		0.0	False		,,,				2504	0.0																0																																										SO:0001819	synonymous_variant	29924			AF073727	CCDS46198.1, CCDS46199.1, CCDS46200.1	19q13.42	2014-08-12			ENSG00000063245	ENSG00000063245			21604	protein-coding gene	gene with protein product		607262				9723620, 10557078	Standard	NM_001130072		Approved		uc002qlx.3	Q9Y6I3	OTTHUMG00000180911	ENST00000270460.6:c.435G>A	19.37:g.56196968G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q86ST3|Q9HA18	Silent	SNP	pfam_Epsin_dom_N,pfam_ANTH,superfamily_ENTH_VHS,smart_Epsin-like_N,smart_Ubiquitin-int_motif,pfscan_Epsin-like_N,pfscan_Ubiquitin-int_motif	p.A256	ENST00000270460.6	37	c.768	CCDS46199.1	19																																																																																			EPN1	-	NULL		0.682	EPN1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	EPN1	HGNC	protein_coding	OTTHUMT00000453610.1	G	NM_013333		56196968	+1	no_errors	ENST00000411543	ensembl	human	known	70_37	silent	SNP	0.951	A
EPS15	2060	genome.wustl.edu	37	1	51912772	51912772	+	Silent	SNP	A	A	T			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr1:51912772A>T	ENST00000371733.3	-	10	753	c.657T>A	c.(655-657)gtT>gtA	p.V219V	EPS15_ENST00000371730.2_Silent_p.V219V	NM_001981.2	NP_001972.1	P42566	EPS15_HUMAN	epidermal growth factor receptor pathway substrate 15	219	Interaction with DAB2. {ECO:0000250}.				cell proliferation (GO:0008283)|clathrin coat assembly (GO:0048268)|endocytic recycling (GO:0032456)|endocytosis (GO:0006897)|epidermal growth factor receptor signaling pathway (GO:0007173)|Golgi to endosome transport (GO:0006895)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|protein transport (GO:0015031)|vesicle organization (GO:0016050)	AP-2 adaptor complex (GO:0030122)|ciliary membrane (GO:0060170)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|polyubiquitin binding (GO:0031593)	p.0?(1)		endometrium(3)|kidney(5)|large_intestine(8)|lung(13)|prostate(2)|skin(1)|stomach(1)|urinary_tract(2)	35						CAGGGGATACAACCCACTACA	0.363			T	MLL	ALL																																			Dom	yes		1	1p32	2060	epidermal growth factor receptor pathway substrate 15 (AF1p)		L	1	Whole gene deletion(1)	central_nervous_system(1)											85.0	88.0	87.0					1																	51912772		2203	4300	6503	SO:0001819	synonymous_variant	2060			BC054006	CCDS557.1	1p32	2013-01-10			ENSG00000085832	ENSG00000085832		"""EF-hand domain containing"""	3419	protein-coding gene	gene with protein product		600051				8183552	Standard	NM_001159969		Approved	AF-1P, MLLT5	uc001csq.1	P42566	OTTHUMG00000008192	ENST00000371733.3:c.657T>A	1.37:g.51912772A>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B2R8J7|D3DPJ2|Q5SRH4	Silent	SNP	smart_EPS15_homology,smart_EF_hand_Ca-bd,smart_Ubiquitin-int_motif,pfscan_EF_HAND_2,pfscan_EPS15_homology,pfscan_Ubiquitin-int_motif	p.V219	ENST00000371733.3	37	c.657	CCDS557.1	1																																																																																			EPS15	-	smart_EPS15_homology		0.363	EPS15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EPS15	HGNC	protein_coding	OTTHUMT00000022422.1	A	NM_001981		51912772	-1	no_errors	ENST00000371733	ensembl	human	known	70_37	silent	SNP	1.000	T
ERCC5	2073	genome.wustl.edu	37	13	103514517	103514517	+	Missense_Mutation	SNP	C	C	G			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr13:103514517C>G	ENST00000355739.4	+	8	2441	c.1018C>G	c.(1018-1020)Cct>Gct	p.P340A	ERCC5_ENST00000375954.1_5'Flank|BIVM-ERCC5_ENST00000602836.1_Missense_Mutation_p.S765C	NM_000123.3	NP_000114	P28715	ERCC5_HUMAN	excision repair cross-complementation group 5	340					DNA catabolic process, endonucleolytic (GO:0000737)|DNA repair (GO:0006281)|negative regulation of apoptotic process (GO:0043066)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA damage removal (GO:0000718)|nucleotide-excision repair, DNA incision, 3'-to lesion (GO:0006295)|response to UV (GO:0009411)|response to UV-C (GO:0010225)|transcription-coupled nucleotide-excision repair (GO:0006283)|UV protection (GO:0009650)	intermediate filament cytoskeleton (GO:0045111)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	bubble DNA binding (GO:0000405)|double-stranded DNA binding (GO:0003690)|endodeoxyribonuclease activity (GO:0004520)|endonuclease activity (GO:0004519)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein N-terminus binding (GO:0047485)|single-stranded DNA binding (GO:0003697)			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(4)|large_intestine(8)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	51	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.211)					TGCTACCCCTCCTTCTCCAAG	0.498			"""Mis, N, F"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum																														yes	Rec		Xeroderma pigmentosum (G)	13	13q33	2073	"""excision repair cross-complementing rodent repair deficiency, complementation group 5 (xeroderma pigmentosum, complementation group G (Cockayne syndrome))"""		E	0													95.0	96.0	96.0					13																	103514517		2203	4300	6503	SO:0001583	missense	2073	Familial Cancer Database	incl. XPA, XPB, XPC, XPD, XPE, XPF, XPG, XP Variant, XPV	X71342	CCDS32004.1	13q22-q34	2014-09-17	2014-03-07		ENSG00000134899	ENSG00000134899			3437	protein-coding gene	gene with protein product	"""Cockayne syndrome"""	133530	"""xeroderma pigmentosum, complementation group G"", ""excision repair cross-complementing rodent repair deficiency, complementation group 5"""	ERCM2, XPGC		8088806	Standard	NM_000123		Approved			P28715	OTTHUMG00000017310	ENST00000355739.4:c.1018C>G	13.37:g.103514517C>G	ENSP00000347978:p.Pro340Ala	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NGT4|Q5JUS4|Q5JUS5|Q7Z2V3|Q8IZL6|Q8N1B7|Q9HD59|Q9HD60	Missense_Mutation	SNP	pfam_XPG_DNA_repair_N,pfam_XPG/RAD2_endonuclease,superfamily_5-3_exonuclease_C,smart_XPG_DNA_repair_N,smart_XPG/RAD2_endonuclease,smart_HhH2,prints_XPGC_DNA_repair,prints_XPGC_Rad_DNA_repair,tigrfam_XPGC_DNA_repair	p.P340A	ENST00000355739.4	37	c.1018	CCDS32004.1	13	.	.	.	.	.	.	.	.	.	.	C	15.85	2.955937	0.53293	.	.	ENSG00000134899	ENST00000418659;ENST00000355739;ENST00000375955	T	0.19250	2.16	5.22	5.22	0.72569	.	0.164918	0.53938	D	0.000042	T	0.44705	0.1306	L	0.57536	1.79	0.80722	D	1	D;D;D	0.89917	0.997;1.0;0.999	P;D;D	0.87578	0.904;0.998;0.994	T	0.18304	-1.0341	10	0.39692	T	0.17	-16.7385	18.7972	0.91999	0.0:1.0:0.0:0.0	.	340;340;765	B4DSI5;P28715;Q59FZ7	.;ERCC5_HUMAN;.	A	765;340;172	ENSP00000347978:P340A	ENSP00000347978:P340A	P	+	1	0	ERCC5	102312518	1.000000	0.71417	1.000000	0.80357	0.143000	0.21401	6.080000	0.71299	2.424000	0.82194	0.655000	0.94253	CCT	ERCC5	-	tigrfam_XPGC_DNA_repair		0.498	ERCC5-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	ERCC5	HGNC	protein_coding	OTTHUMT00000045708.1	C			103514517	+1	no_errors	ENST00000355739	ensembl	human	known	70_37	missense	SNP	1.000	G
ERVH48-1	90625	genome.wustl.edu	37	21	44345495	44345495	+	lincRNA	SNP	G	G	T			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr21:44345495G>T	ENST00000447535.1	-	0	261							M5A8F1	SUPYN_HUMAN	endogenous retrovirus group 48, member 1						syncytium formation (GO:0006949)	extracellular space (GO:0005615)											tgcacagagaggcgactagag	0.592																																																	0																																												90625			BC005107, CR591419		21q22.3	2011-06-16	2011-05-05	2011-05-05	ENSG00000233056	ENSG00000233056			17216	other	endogenous retrovirus			"""chromosome 21 open reading frame 105"", ""NDUFV3 antisense RNA 1 (non-protein coding)"""	C21orf105, NDUFV3-AS1		21542922	Standard			Approved			M5A8F1	OTTHUMG00000086835		21.37:g.44345495G>T		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000447535.1	37	NULL		21																																																																																			ERVH48-1	-	-		0.592	ERVH48-1-001	KNOWN	basic	lincRNA	ERVH48-1	HGNC	lincRNA	OTTHUMT00000195540.1	G			44345495	-1	no_errors	ENST00000447535	ensembl	human	known	70_37	rna	SNP	0.121	T
ESYT2	57488	genome.wustl.edu	37	7	158534254	158534254	+	Missense_Mutation	SNP	C	C	T			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr7:158534254C>T	ENST00000251527.5	-	17	2274	c.2209G>A	c.(2209-2211)Gcc>Acc	p.A737T	ESYT2_ENST00000435514.2_Missense_Mutation_p.A172T	NM_020728.2	NP_065779.1	A0FGR8	ESYT2_HUMAN	extended synaptotagmin-like protein 2	765	Poly-Ser.				endocytosis (GO:0006897)|lipid transport (GO:0006869)	extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|integral component of plasma membrane (GO:0005887)|intrinsic component of endoplasmic reticulum membrane (GO:0031227)|membrane (GO:0016020)|organelle membrane contact site (GO:0044232)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|identical protein binding (GO:0042802)|phosphatidylcholine binding (GO:0031210)|phosphatidylethanolamine binding (GO:0008429)|phosphatidylinositol binding (GO:0035091)	p.A737S(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(16)|prostate(2)	32						TCCTGGGTGGCGATGGGCAGC	0.637																																																	1	Substitution - Missense(1)	lung(1)											53.0	51.0	52.0					7																	158534254		2203	4300	6503	SO:0001583	missense	57488			AB033054	CCDS34791.1	7q36.3	2014-07-02	2009-06-23	2009-06-23	ENSG00000117868	ENSG00000117868		"""Synaptotagmins"""	22211	protein-coding gene	gene with protein product			"""family with sequence similarity 62 (C2 domain containing), member B"""	FAM62B		17672888	Standard	NM_020728		Approved	KIAA1228, CHR2SYT	uc003wob.1	A0FGR8	OTTHUMG00000151436	ENST00000251527.5:c.2209G>A	7.37:g.158534254C>T	ENSP00000251527:p.Ala737Thr	Somatic		WXS	Illumina HiSeq	Phase_IV	A4D229|Q69YJ2|Q6UKI4|Q6ZTU0|Q6ZVU1|Q9BQS0|Q9NW47|Q9ULJ2	Missense_Mutation	SNP	pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting	p.A737T	ENST00000251527.5	37	c.2209	CCDS34791.1	7	.	.	.	.	.	.	.	.	.	.	C	35	5.544144	0.96488	.	.	ENSG00000117868	ENST00000251527;ENST00000421679;ENST00000275418;ENST00000435514;ENST00000377650	T;T;T	0.22743	1.94;1.96;2.35	5.11	5.11	0.69529	.	0.000000	0.85682	D	0.000000	T	0.45438	0.1342	M	0.68952	2.095	0.80722	D	1	D;D	0.89917	1.0;0.991	D;P	0.70487	0.969;0.769	T	0.30238	-0.9985	10	0.46703	T	0.11	-11.5094	17.885	0.88851	0.0:1.0:0.0:0.0	.	737;765	A0FGR8-2;A0FGR8	.;ESYT2_HUMAN	T	737;786;728;172;172	ENSP00000251527:A737T;ENSP00000275418:A728T;ENSP00000411488:A172T	ENSP00000251527:A737T	A	-	1	0	ESYT2	158227015	1.000000	0.71417	0.996000	0.52242	0.898000	0.52572	4.467000	0.60155	2.541000	0.85698	0.655000	0.94253	GCC	ESYT2	-	NULL		0.637	ESYT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ESYT2	HGNC	protein_coding	OTTHUMT00000322647.1	C	NM_020728		158534254	-1	no_errors	ENST00000251527	ensembl	human	known	70_37	missense	SNP	1.000	T
ETAA1	54465	genome.wustl.edu	37	2	67631408	67631408	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr2:67631408C>T	ENST00000272342.5	+	5	1724	c.1594C>T	c.(1594-1596)Cag>Tag	p.Q532*	ETAA1_ENST00000462772.1_Intron	NM_019002.3	NP_061875.2	Q9NY74	ETAA1_HUMAN	Ewing tumor-associated antigen 1	532						cytoplasm (GO:0005737)				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(9)|ovary(3)|prostate(1)|stomach(3)|urinary_tract(1)	33						TTCTAATGAACAGAAAAATAA	0.338																																																	0													38.0	40.0	39.0					2																	67631408		2202	4296	6498	SO:0001587	stop_gained	54465			AJ242682	CCDS1882.1	2p14	2014-02-12	2007-10-04		ENSG00000143971	ENSG00000143971			24648	protein-coding gene	gene with protein product		613196	"""Ewing's tumor-associated antigen 1"""			16003559	Standard	XM_005264374		Approved	ETAA16	uc002sdz.1	Q9NY74	OTTHUMG00000129545	ENST00000272342.5:c.1594C>T	2.37:g.67631408C>T	ENSP00000272342:p.Gln532*	Somatic		WXS	Illumina HiSeq	Phase_IV	Q05BT7|Q53SC4	Nonsense_Mutation	SNP	NULL	p.Q532*	ENST00000272342.5	37	c.1594	CCDS1882.1	2	.	.	.	.	.	.	.	.	.	.	C	20.2	3.949187	0.73787	.	.	ENSG00000143971	ENST00000272342	.	.	.	5.85	4.98	0.66077	.	0.511047	0.20560	N	0.089937	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.37606	T	0.19	-27.2549	14.9288	0.70900	0.0:0.9317:0.0:0.0683	.	.	.	.	X	532	.	ENSP00000272342:Q532X	Q	+	1	0	ETAA1	67484912	0.438000	0.25602	0.696000	0.30242	0.021000	0.10359	1.006000	0.29847	1.492000	0.48499	0.655000	0.94253	CAG	ETAA1	-	NULL		0.338	ETAA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ETAA1	HGNC	protein_coding	OTTHUMT00000251735.1	C	NM_019002		67631408	+1	no_errors	ENST00000272342	ensembl	human	known	70_37	nonsense	SNP	0.026	T
ETFB	2109	genome.wustl.edu	37	19	51857829	51857829	+	Intron	SNP	T	T	G			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr19:51857829T>G	ENST00000309244.4	-	2	149				ETFB_ENST00000354232.4_Silent_p.R22R|CTD-2616J11.11_ENST00000600067.1_Intron|CTD-2616J11.9_ENST00000600974.1_RNA	NM_001985.2	NP_001976.1	P38117	ETFB_HUMAN	electron-transfer-flavoprotein, beta polypeptide						cellular metabolic process (GO:0044237)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	electron carrier activity (GO:0009055)			kidney(2)|large_intestine(1)|lung(3)	6		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.000226)|OV - Ovarian serous cystadenocarcinoma(262;0.00661)		ACTGCTCCTCTCAGGCCTGAA	0.448																																																	0													81.0	82.0	82.0					19																	51857829		2203	4300	6503	SO:0001627	intron_variant	2109			X71129	CCDS12828.1, CCDS33085.1	19q13.3-q13.4	2008-02-05				ENSG00000105379			3482	protein-coding gene	gene with protein product		130410					Standard	NM_001014763		Approved		uc002pwg.3	P38117		ENST00000309244.4:c.58-267A>C	19.37:g.51857829T>G		Somatic		WXS	Illumina HiSeq	Phase_IV	A8K766|B3KNY2|Q6IBH7|Q71RF6|Q9Y3S7	Silent	SNP	pfam_ETF_a/b_N,smart_ETF_a/b_N	p.R22	ENST00000309244.4	37	c.64	CCDS12828.1	19																																																																																			ETFB	-	NULL		0.448	ETFB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ETFB	HGNC	protein_coding	OTTHUMT00000464273.1	T			51857829	-1	no_errors	ENST00000354232	ensembl	human	known	70_37	silent	SNP	0.001	G
ETV3L	440695	genome.wustl.edu	37	1	157067741	157067741	+	Missense_Mutation	SNP	C	C	T			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr1:157067741C>T	ENST00000454449.2	-	4	810	c.526G>A	c.(526-528)Gag>Aag	p.E176K		NM_001004341.2	NP_001004341.1	Q6ZN32	ETV3L_HUMAN	ets variant 3-like	176					cell differentiation (GO:0030154)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(9)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	24	Hepatocellular(266;0.158)	Prostate(1639;0.184)				GTCAGCTGCTCCACCATGGCC	0.602																																																	0													69.0	67.0	68.0					1																	157067741		2203	4300	6503	SO:0001583	missense	440695			AK131392	CCDS30893.1	1q23.1	2013-09-24	2008-09-12		ENSG00000253831	ENSG00000253831			33834	protein-coding gene	gene with protein product			"""ets variant gene 3-like"""				Standard	NM_001004341		Approved	FLJ16478	uc001fqq.2	Q6ZN32	OTTHUMG00000041325	ENST00000454449.2:c.526G>A	1.37:g.157067741C>T	ENSP00000430271:p.Glu176Lys	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_Ets,smart_Ets,pfscan_Ets,prints_Ets	p.E176K	ENST00000454449.2	37	c.526	CCDS30893.1	1	.	.	.	.	.	.	.	.	.	.	C	9.473	1.096153	0.20552	.	.	ENSG00000253831	ENST00000454449	T	0.09445	2.98	3.61	2.68	0.31781	.	.	.	.	.	T	0.01765	0.0056	N	0.24115	0.695	0.09310	N	0.999994	B	0.23650	0.089	B	0.17433	0.018	T	0.46735	-0.9170	9	0.14252	T	0.57	.	6.3338	0.21285	0.0:0.8607:0.0:0.1393	.	176	Q6ZN32	ETV3L_HUMAN	K	176	ENSP00000430271:E176K	ENSP00000430271:E176K	E	-	1	0	ETV3L	155334365	0.630000	0.27155	0.597000	0.28824	0.049000	0.14656	1.055000	0.30467	1.050000	0.40346	0.555000	0.69702	GAG	ETV3L	-	NULL		0.602	ETV3L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ETV3L	HGNC	protein_coding	OTTHUMT00000099024.2	C	NM_001004341		157067741	-1	no_errors	ENST00000454449	ensembl	human	known	70_37	missense	SNP	0.637	T
EVA1A	84141	genome.wustl.edu	37	2	75720574	75720574	+	Missense_Mutation	SNP	C	C	T	rs148155576	byFrequency	TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr2:75720574C>T	ENST00000233712.1	-	4	684	c.247G>A	c.(247-249)Gac>Aac	p.D83N	EVA1A_ENST00000410010.1_Missense_Mutation_p.D71N|EVA1A_ENST00000410071.1_Missense_Mutation_p.D83N|EVA1A_ENST00000490746.1_Intron|EVA1A_ENST00000393913.3_Missense_Mutation_p.D83N|EVA1A_ENST00000410113.1_Missense_Mutation_p.D83N	NM_032181.2	NP_115557.1	Q9H8M9	EVA1A_HUMAN	eva-1 homolog A (C. elegans)	83					apoptotic process (GO:0006915)|autophagy (GO:0006914)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|lysosome (GO:0005764)|plasma membrane (GO:0005886)		p.D83N(2)									TCCTCGCTGTCGCTGCTGTCG	0.597																																																	2	Substitution - Missense(2)	large_intestine(1)|endometrium(1)											61.0	55.0	57.0					2																	75720574		2203	4300	6503	SO:0001583	missense	84141			BC016157	CCDS1959.1	2p12	2012-11-05	2012-11-05	2012-11-05	ENSG00000115363	ENSG00000115363			25816	protein-coding gene	gene with protein product			"""transmembrane protein 166"", ""family with sequence similarity 176, member A"""	TMEM166, FAM176A		12477932	Standard	NM_001135032		Approved	FLJ13391	uc002sni.2	Q9H8M9	OTTHUMG00000129991	ENST00000233712.1:c.247G>A	2.37:g.75720574C>T	ENSP00000233712:p.Asp83Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	D6W5J3|Q9HC41	Missense_Mutation	SNP	NULL	p.D83N	ENST00000233712.1	37	c.247	CCDS1959.1	2	.	.	.	.	.	.	.	.	.	.	C	34	5.350630	0.95830	.	.	ENSG00000115363	ENST00000393913;ENST00000233712;ENST00000410113;ENST00000410010;ENST00000410071;ENST00000432649;ENST00000452003	T;T;T;T;T;T;T	0.47528	0.84;0.84;0.84;0.84;0.84;0.84;0.84	5.05	5.05	0.67936	.	0.241744	0.56097	D	0.000034	T	0.68348	0.2991	M	0.81942	2.565	0.80722	D	1	D	0.76494	0.999	D	0.63793	0.918	T	0.70182	-0.4942	10	0.48119	T	0.1	0.2849	16.7001	0.85346	0.0:1.0:0.0:0.0	.	83	Q9H8M9	F176A_HUMAN	N	83;83;83;71;83;83;83	ENSP00000377490:D83N;ENSP00000233712:D83N;ENSP00000386435:D83N;ENSP00000386835:D71N;ENSP00000386930:D83N;ENSP00000398249:D83N;ENSP00000388105:D83N	ENSP00000233712:D83N	D	-	1	0	FAM176A	75574082	1.000000	0.71417	1.000000	0.80357	0.950000	0.60333	6.010000	0.70753	2.717000	0.92951	0.650000	0.86243	GAC	EVA1A	-	NULL		0.597	EVA1A-201	KNOWN	basic|appris_principal|CCDS	protein_coding	EVA1A	HGNC	protein_coding	OTTHUMT00000328707.1	C	NM_032181		75720574	-1	no_errors	ENST00000233712	ensembl	human	known	70_37	missense	SNP	1.000	T
EVPL	2125	genome.wustl.edu	37	17	74018065	74018065	+	Silent	SNP	C	C	T			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr17:74018065C>T	ENST00000301607.3	-	7	943	c.690G>A	c.(688-690)acG>acA	p.T230T	EVPL_ENST00000586740.1_Silent_p.T230T	NM_001988.2	NP_001979.2	Q92817	EVPL_HUMAN	envoplakin	230	Globular 1.				epidermis development (GO:0008544)|keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)	cell junction (GO:0030054)|cornified envelope (GO:0001533)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	protein binding, bridging (GO:0030674)|structural molecule activity (GO:0005198)			breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						CCTGGAGGTGCGTGTACAGGC	0.716																																																	0													5.0	7.0	7.0					17																	74018065		2116	4167	6283	SO:0001819	synonymous_variant	2125			U53786	CCDS11737.1	17q25	2008-07-18				ENSG00000167880			3503	protein-coding gene	gene with protein product		601590				8938451, 10409435	Standard	NM_001988		Approved	EVPK	uc002jqi.2	Q92817		ENST00000301607.3:c.690G>A	17.37:g.74018065C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A0AUV5	Silent	SNP	pfam_Plectin_repeat,superfamily_Ferritin/RNR-like,smart_Spectrin/alpha-actinin,smart_Plectin_repeat	p.T230	ENST00000301607.3	37	c.690	CCDS11737.1	17																																																																																			EVPL	-	smart_Spectrin/alpha-actinin		0.716	EVPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EVPL	HGNC	protein_coding	OTTHUMT00000449483.1	C	NM_001988		74018065	-1	no_errors	ENST00000301607	ensembl	human	known	70_37	silent	SNP	0.343	T
EXOC4	60412	genome.wustl.edu	37	7	133622807	133622807	+	Missense_Mutation	SNP	C	C	G			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr7:133622807C>G	ENST00000253861.4	+	14	2220	c.2191C>G	c.(2191-2193)Ctt>Gtt	p.L731V	EXOC4_ENST00000545148.1_Missense_Mutation_p.L341V|EXOC4_ENST00000541309.1_Missense_Mutation_p.L19V|EXOC4_ENST00000539845.1_Missense_Mutation_p.L630V	NM_021807.3	NP_068579.3	Q96A65	EXOC4_HUMAN	exocyst complex component 4	731					cellular protein metabolic process (GO:0044267)|membrane organization (GO:0061024)|protein transport (GO:0015031)|vesicle docking involved in exocytosis (GO:0006904)	cytoplasm (GO:0005737)|exocyst (GO:0000145)|growth cone membrane (GO:0032584)|membrane (GO:0016020)|myelin sheath abaxonal region (GO:0035748)|plasma membrane (GO:0005886)	protein N-terminus binding (GO:0047485)			NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(16)|ovary(4)|prostate(1)|skin(5)|upper_aerodigestive_tract(2)	50		Esophageal squamous(399;0.129)				TTTCTCCAATCTTTCTACATC	0.453																																																	0													89.0	75.0	80.0					7																	133622807		2203	4300	6503	SO:0001583	missense	60412			AL831989	CCDS5829.1, CCDS43648.1	7q31	2013-01-22	2005-11-01	2005-11-01	ENSG00000131558	ENSG00000131558			30389	protein-coding gene	gene with protein product		608185	"""SEC8-like 1 (S. cerevisiae)"""	SEC8L1		11214970, 12687004	Standard	XM_005250523		Approved	KIAA1699, MGC27170, SEC8, Sec8p	uc003vrk.3	Q96A65	OTTHUMG00000155259	ENST00000253861.4:c.2191C>G	7.37:g.133622807C>G	ENSP00000253861:p.Leu731Val	Somatic		WXS	Illumina HiSeq	Phase_IV	E9PED2|Q541U8|Q9C0G4|Q9H9K0|Q9P102	Missense_Mutation	SNP	pfam_Sec8_exocyst	p.L731V	ENST00000253861.4	37	c.2191	CCDS5829.1	7	.	.	.	.	.	.	.	.	.	.	C	8.944	0.966553	0.18659	.	.	ENSG00000131558	ENST00000253861;ENST00000546185;ENST00000539845;ENST00000545148;ENST00000541309	.	.	.	5.87	5.0	0.66597	.	0.064555	0.64402	D	0.000005	T	0.54464	0.1860	L	0.38838	1.175	0.42839	D	0.994044	B;P;P	0.41393	0.037;0.684;0.748	B;P;B	0.49332	0.02;0.607;0.247	T	0.49390	-0.8945	9	0.18276	T	0.48	.	11.3621	0.49648	0.0:0.8617:0.0:0.1383	.	263;341;731	B7Z689;F5GZT1;Q96A65	.;.;EXOC4_HUMAN	V	731;350;630;341;19	.	ENSP00000253861:L731V	L	+	1	0	EXOC4	133273347	0.989000	0.36119	0.946000	0.38457	0.773000	0.43773	2.782000	0.47758	1.632000	0.50472	0.655000	0.94253	CTT	EXOC4	-	NULL		0.453	EXOC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EXOC4	HGNC	protein_coding	OTTHUMT00000339182.1	C	NM_021807		133622807	+1	no_errors	ENST00000253861	ensembl	human	known	70_37	missense	SNP	0.994	G
EXOC6B	23233	genome.wustl.edu	37	2	72945400	72945400	+	Silent	SNP	C	C	T			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr2:72945400C>T	ENST00000272427.6	-	6	631	c.501G>A	c.(499-501)gaG>gaA	p.E167E	EXOC6B_ENST00000410104.1_Silent_p.E167E	NM_015189.1	NP_056004.1	Q9Y2D4	EXC6B_HUMAN	exocyst complex component 6B	167					protein transport (GO:0015031)|vesicle docking involved in exocytosis (GO:0006904)	exocyst (GO:0000145)				breast(1)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(3)	10						GGTAGGTATGCTCTAGATGTT	0.423																																																	0													118.0	116.0	117.0					2																	72945400		1938	4142	6080	SO:0001819	synonymous_variant	23233			AB023136	CCDS46333.1	2p13.2	2013-01-22	2006-11-07	2006-11-07	ENSG00000144036	ENSG00000144036			17085	protein-coding gene	gene with protein product		607880	"""SEC15-like 2 (S. cerevisiae)"", ""SEC15 homolog B (S. cerevisiae)"""	SEC15L2, SEC15B		10231032, 11406615	Standard	NM_015189		Approved	KIAA0919	uc010fep.3	Q9Y2D4	OTTHUMG00000152723	ENST00000272427.6:c.501G>A	2.37:g.72945400C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B8ZZY3	Silent	SNP	pfam_Sec15,pirsf_Sec15	p.E167	ENST00000272427.6	37	c.501	CCDS46333.1	2																																																																																			EXOC6B	-	pirsf_Sec15		0.423	EXOC6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EXOC6B	HGNC	protein_coding	OTTHUMT00000327558.1	C	XM_039570		72945400	-1	no_errors	ENST00000272427	ensembl	human	known	70_37	silent	SNP	1.000	T
EXOSC10	5394	genome.wustl.edu	37	1	11141202	11141202	+	Silent	SNP	G	G	A	rs371318008		TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr1:11141202G>A	ENST00000376936.4	-	11	1423	c.1374C>T	c.(1372-1374)cgC>cgT	p.R458R	EXOSC10_ENST00000485606.1_5'UTR|EXOSC10_ENST00000544779.1_Silent_p.R458R|EXOSC10_ENST00000304457.7_Silent_p.R458R	NM_001001998.1	NP_001001998.1	Q01780	EXOSX_HUMAN	exosome component 10	458					CUT catabolic process (GO:0071034)|dosage compensation by inactivation of X chromosome (GO:0009048)|histone mRNA catabolic process (GO:0071044)|maturation of 5.8S rRNA (GO:0000460)|nuclear mRNA surveillance (GO:0071028)|nuclear polyadenylation-dependent rRNA catabolic process (GO:0071035)|nuclear retention of unspliced pre-mRNA at the site of transcription (GO:0071048)|nuclear-transcribed mRNA catabolic process (GO:0000956)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)	cytoplasm (GO:0005737)|exosome (RNase complex) (GO:0000178)|membrane (GO:0016020)|nuclear exosome (RNase complex) (GO:0000176)|nucleolus (GO:0005730)|nucleus (GO:0005634)|transcriptionally active chromatin (GO:0035327)	3'-5' exonuclease activity (GO:0008408)|exoribonuclease activity (GO:0004532)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|stomach(3)|upper_aerodigestive_tract(1)	27	Ovarian(185;0.249)	Lung NSC(185;1.74e-05)|all_lung(284;2.05e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;4.18e-07)|COAD - Colon adenocarcinoma(227;8.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000315)|Kidney(185;0.000832)|KIRC - Kidney renal clear cell carcinoma(229;0.00269)|READ - Rectum adenocarcinoma(331;0.0526)|STAD - Stomach adenocarcinoma(313;0.202)		GCCCGTTGCCGCGCTCCCACA	0.592																																					Colon(179;105 1987 14326 27364 29542)												0								G	,	1,4405	2.1+/-5.4	0,1,2202	57.0	55.0	55.0		1374,1374	-9.2	0.5	1		55	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	EXOSC10	NM_001001998.1,NM_002685.2	,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,	458/886,458/861	11141202	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	5394			BC073788	CCDS126.1, CCDS30584.1	1p36.22	2008-02-05	2004-06-16	2004-06-18	ENSG00000171824	ENSG00000171824			9138	protein-coding gene	gene with protein product	"""polymyositis/scleroderma autoantigen 2 (100kD)"""	605960	"""polymyositis/scleroderma autoantigen 2, 100kDa"""	PMSCL2		1383382, 1644924	Standard	NM_001001998		Approved	PM-Scl, PM/Scl-100, Rrp6p, RRP6, p2, p3, p4	uc001asa.3	Q01780	OTTHUMG00000002123	ENST00000376936.4:c.1374C>T	1.37:g.11141202G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	B1AKQ0|B1AKQ1|Q15158	Silent	SNP	pfam_3'-5'_exonuclease_dom,pfam_Exosome-assoc_fac_Rrp6_N,pfam_Helicase/RNaseD_C,superfamily_RNaseH-like_dom,superfamily_HRDC-like,smart_3'-5'_exonuclease_dom,smart_Helicase/RNaseD_C,pfscan_Helicase/RNaseD_C	p.R458	ENST00000376936.4	37	c.1374	CCDS30584.1	1																																																																																			EXOSC10	-	superfamily_RNaseH-like_dom		0.592	EXOSC10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	EXOSC10	HGNC	protein_coding	OTTHUMT00000006078.1	G	NM_001001998		11141202	-1	no_errors	ENST00000376936	ensembl	human	known	70_37	silent	SNP	0.258	A
EXOC8	149371	genome.wustl.edu	37	1	231472726	231472726	+	Missense_Mutation	SNP	A	A	C			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr1:231472726A>C	ENST00000360394.2	-	1	852	c.766T>G	c.(766-768)Ttc>Gtc	p.F256V	SPRTN_ENST00000008440.9_5'Flank|EXOC8_ENST00000366645.1_Missense_Mutation_p.F252V|SPRTN_ENST00000391858.4_5'Flank|SPRTN_ENST00000295050.7_5'Flank	NM_175876.3	NP_787072.2	Q8IYI6	EXOC8_HUMAN	exocyst complex component 8	256	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				cellular protein localization (GO:0034613)|cellular protein metabolic process (GO:0044267)|exocytosis (GO:0006887)|membrane organization (GO:0061024)|protein transport (GO:0015031)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|exocyst (GO:0000145)|membrane (GO:0016020)|plasma membrane (GO:0005886)				cervix(2)|endometrium(1)|large_intestine(2)|liver(1)|lung(5)|prostate(1)|skin(1)|stomach(1)	14	Breast(184;0.0871)	all_cancers(173;0.151)|Prostate(94;0.183)				CTCTCGGGGAACATAAGCAGC	0.512																																																	0													80.0	80.0	80.0					1																	231472726		2203	4300	6503	SO:0001583	missense	149371			AL117352	CCDS1593.1	1q42.2	2013-01-22			ENSG00000116903	ENSG00000116903			24659	protein-coding gene	gene with protein product		615283				12477932	Standard	NM_175876		Approved	SEC84, EXO84, Exo84p	uc001huq.3	Q8IYI6	OTTHUMG00000038025	ENST00000360394.2:c.766T>G	1.37:g.231472726A>C	ENSP00000353564:p.Phe256Val	Somatic		WXS	Illumina HiSeq	Phase_IV	B3KU33|Q5TE82	Missense_Mutation	SNP	pfam_Vps51,superfamily_Cullin_repeat-like_dom,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.F256V	ENST00000360394.2	37	c.766	CCDS1593.1	1	.	.	.	.	.	.	.	.	.	.	A	23.1	4.377136	0.82682	.	.	ENSG00000116903	ENST00000360394;ENST00000366645	T;T	0.76186	-1.0;-1.0	5.69	5.69	0.88448	Pleckstrin homology-type (1);Pleckstrin homology domain (2);	0.000000	0.85682	D	0.000000	D	0.84875	0.5569	M	0.77820	2.39	0.80722	D	1	D	0.69078	0.997	D	0.79108	0.992	T	0.82412	-0.0470	10	0.16420	T	0.52	-21.0344	15.9478	0.79806	1.0:0.0:0.0:0.0	.	256	Q8IYI6	EXOC8_HUMAN	V	256;252	ENSP00000353564:F256V;ENSP00000355605:F252V	ENSP00000353564:F256V	F	-	1	0	EXOC8	229539349	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.339000	0.96797	2.165000	0.68154	0.459000	0.35465	TTC	EXOC8	-	smart_Pleckstrin_homology,pfscan_Pleckstrin_homology		0.512	EXOC8-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	EXOC8	HGNC	protein_coding		A	NM_175876		231472726	-1	no_errors	ENST00000360394	ensembl	human	known	70_37	missense	SNP	1.000	C
EYS	346007	genome.wustl.edu	37	6	65767564	65767564	+	Missense_Mutation	SNP	C	C	A			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr6:65767564C>A	ENST00000370621.3	-	13	2606	c.2080G>T	c.(2080-2082)Gcc>Tcc	p.A694S	EYS_ENST00000503581.1_Missense_Mutation_p.A694S|EYS_ENST00000370616.2_Missense_Mutation_p.A694S			Q5T1H1	EYS_HUMAN	eyes shut homolog (Drosophila)	694	EGF-like 8; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				detection of light stimulus involved in visual perception (GO:0050908)|skeletal muscle tissue regeneration (GO:0043403)	extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(12)|lung(42)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(3)	69						ATGCAGGTGGCTCCATTTTTG	0.378																																																	0													223.0	180.0	193.0					6																	65767564		692	1591	2283	SO:0001583	missense	346007				CCDS4967.1, CCDS47445.1, CCDS47446.1	6q12	2014-01-28	2008-10-20	2008-10-20	ENSG00000188107	ENSG00000188107			21555	protein-coding gene	gene with protein product		612424	"""chromosome 6 open reading frame 180"", ""EGF-like-domain, multiple 11"", ""retinitis pigmentosa 25 (autosomal recessive)"", ""EGF-like-domain, multiple 10"", ""chromosome 6 open reading frame 178"", ""chromosome 6 open reading frame 179"""	C6orf180, EGFL11, RP25, EGFL10, C6orf178, C6orf179		18836446, 18976725	Standard	NM_001142800		Approved	dJ1018A4.2, bA166P24.2, SPAM, bA307F22.3, dJ303F19.1, bA74E24.1	uc011dxu.1	Q5T1H1	OTTHUMG00000014971	ENST00000370621.3:c.2080G>T	6.37:g.65767564C>A	ENSP00000359655:p.Ala694Ser	Somatic		WXS	Illumina HiSeq	Phase_IV	A2RUR2|A8MVE7|B7TYK8|B7UUQ3|B7ZBE7|B7ZBE8|B7ZBR3|B9ZVD2|Q5SZM4|Q5T3C8|Q5T669|Q5TEL3|Q5TEL4|Q5VVG4|Q6UY05|Q9H557|Q9NQ15	Missense_Mutation	SNP	pfam_Laminin_G,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_G	p.A694S	ENST00000370621.3	37	c.2080		6	.	.	.	.	.	.	.	.	.	.	C	17.05	3.289787	0.59976	.	.	ENSG00000188107	ENST00000503581;ENST00000370621;ENST00000370616	D;D;D	0.94280	-3.39;-3.39;-3.39	5.58	2.76	0.32466	.	.	.	.	.	D	0.88474	0.6446	N	0.26162	0.8	0.80722	D	1	D	0.65815	0.995	P	0.59546	0.859	D	0.86575	0.1850	9	0.41790	T	0.15	.	7.9027	0.29744	0.0:0.7261:0.13:0.1439	.	694	Q5T1H1-1	.	S	694	ENSP00000424243:A694S;ENSP00000359655:A694S;ENSP00000359650:A694S	ENSP00000359650:A694S	A	-	1	0	EYS	65824285	0.998000	0.40836	0.253000	0.24343	0.559000	0.35586	2.722000	0.47269	0.692000	0.31613	0.591000	0.81541	GCC	EYS	-	pfam_EG-like_dom,smart_EGF-like_Ca-bd,smart_EG-like_dom,pfscan_EG-like_dom		0.378	EYS-001	KNOWN	basic	protein_coding	EYS	HGNC	protein_coding	OTTHUMT00000351351.3	C	XM_294050		65767564	-1	no_errors	ENST00000370616	ensembl	human	known	70_37	missense	SNP	0.999	A
EZR	7430	genome.wustl.edu	37	6	159188022	159188022	+	Missense_Mutation	SNP	C	C	T			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr6:159188022C>T	ENST00000367075.3	-	14	1853	c.1685G>A	c.(1684-1686)cGg>cAg	p.R562Q	MIR3918_ENST00000581555.1_RNA|EZR_ENST00000392177.4_Missense_Mutation_p.R530Q|EZR_ENST00000337147.7_Missense_Mutation_p.R562Q	NM_001111077.1	NP_001104547.1	P15311	EZRI_HUMAN	ezrin	562	Interaction with SCYL3.				actin filament bundle assembly (GO:0051017)|axon guidance (GO:0007411)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of endothelial barrier (GO:0061028)|establishment or maintenance of apical/basal cell polarity (GO:0035088)|filopodium assembly (GO:0046847)|leukocyte cell-cell adhesion (GO:0007159)|membrane to membrane docking (GO:0022614)|positive regulation of gene expression (GO:0010628)|receptor internalization (GO:0031623)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|apical part of cell (GO:0045177)|apical plasma membrane (GO:0016324)|astrocyte projection (GO:0097449)|basolateral plasma membrane (GO:0016323)|cell body (GO:0044297)|cell tip (GO:0051286)|ciliary basal body (GO:0036064)|cortical cytoskeleton (GO:0030863)|cytosol (GO:0005829)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|membrane (GO:0016020)|membrane raft (GO:0045121)|microspike (GO:0044393)|microvillus (GO:0005902)|microvillus membrane (GO:0031528)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|Schwann cell microvillus (GO:0097454)|T-tubule (GO:0030315)|uropod (GO:0001931)|vesicle (GO:0031982)	actin filament binding (GO:0051015)|cell adhesion molecule binding (GO:0050839)|poly(A) RNA binding (GO:0044822)		EZR/ROS1(4)	breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(2)|lung(1)|ovary(1)|prostate(2)	15		Breast(66;0.000776)|Ovarian(120;0.0303)		OV - Ovarian serous cystadenocarcinoma(65;2.16e-17)|BRCA - Breast invasive adenocarcinoma(81;6.58e-06)		GTACTTGTCCCGGCCTTGCCT	0.577			T	ROS1	NSCLC																																			Dom	yes		6	6q25.3	7430	ezrin		E	0													253.0	208.0	224.0					6																	159188022		2203	4300	6503	SO:0001583	missense	7430			AF187552	CCDS5258.1	6q25.3	2010-12-10	2007-11-29	2007-11-29	ENSG00000092820	ENSG00000092820		"""A-kinase anchor proteins"""	12691	protein-coding gene	gene with protein product	"""cytovillin 2"""	123900	"""villin 2 (ezrin)"""	VIL2			Standard	NM_003379		Approved		uc003qrt.4	P15311	OTTHUMG00000015917	ENST00000367075.3:c.1685G>A	6.37:g.159188022C>T	ENSP00000356042:p.Arg562Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	E1P5A8|P23714|Q4VX75|Q96CU8|Q9NSJ4	Missense_Mutation	SNP	pirsf_ERM,pfam_ERM_C,pfam_FERM_PH-like_C,pfam_FERM_central,pfam_FERM_N,superfamily_FERM_central,superfamily_Moesin,smart_Band_41_domain,pfscan_FERM_domain,prints_Ez/rad/moesin,prints_Band_41_fam	p.R562Q	ENST00000367075.3	37	c.1685	CCDS5258.1	6	.	.	.	.	.	.	.	.	.	.	C	36	5.958793	0.97145	.	.	ENSG00000092820	ENST00000337147;ENST00000367075;ENST00000392177	D;D;D	0.83755	-1.76;-1.76;-1.76	5.37	5.37	0.77165	Moesin (1);Ezrin/radixin/moesin, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.91656	0.7363	M	0.86651	2.83	0.80722	D	1	D;D	0.76494	0.999;0.995	D;P	0.77557	0.99;0.903	D	0.92744	0.6210	10	0.87932	D	0	.	19.0948	0.93246	0.0:1.0:0.0:0.0	.	530;562	E7EQR4;P15311	.;EZRI_HUMAN	Q	562;562;530	ENSP00000338934:R562Q;ENSP00000356042:R562Q;ENSP00000376016:R530Q	ENSP00000338934:R562Q	R	-	2	0	EZR	159108010	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.611000	0.82962	2.499000	0.84300	0.561000	0.74099	CGG	EZR	-	pirsf_ERM,pfam_ERM_C,superfamily_Moesin,prints_Ez/rad/moesin		0.577	EZR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EZR	HGNC	protein_coding	OTTHUMT00000042878.1	C	NM_003379		159188022	-1	no_errors	ENST00000337147	ensembl	human	known	70_37	missense	SNP	1.000	T
F11R	50848	genome.wustl.edu	37	1	160970817	160970817	+	Missense_Mutation	SNP	C	C	G			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr1:160970817C>G	ENST00000368026.6	-	3	508	c.234G>C	c.(232-234)aaG>aaC	p.K78N	F11R_ENST00000289779.3_3'UTR|F11R_ENST00000537746.1_Missense_Mutation_p.K78N|F11R_ENST00000472573.1_5'UTR	NM_016946.4	NP_058642.1	Q9Y624	JAM1_HUMAN	F11 receptor	78	Ig-like V-type 1.				blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|epithelial cell differentiation (GO:0030855)|extracellular matrix organization (GO:0030198)|inflammatory response (GO:0006954)|leukocyte migration (GO:0050900)|tight junction assembly (GO:0070830)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	cell junction (GO:0030054)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|microtubule cytoskeleton (GO:0015630)|plasma membrane (GO:0005886)|tight junction (GO:0005923)				breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|ovary(2)	12	all_cancers(52;6.73e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00207)			CACCTGTGATCTTGTTATTAT	0.498																																																	0													116.0	104.0	108.0					1																	160970817		2203	4300	6503	SO:0001583	missense	50848			AF111713	CCDS1213.1	1q21.2-q21.3	2013-01-29	2003-02-07	2003-02-14	ENSG00000158769	ENSG00000158769		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	14685	protein-coding gene	gene with protein product		605721	"""junctional adhesion molecule 1"""	JAM1		10395639, 7646439	Standard	NM_016946		Approved	PAM-1, JCAM, JAM-1, JAM-A, JAMA, CD321	uc009wtt.3	Q9Y624	OTTHUMG00000028602	ENST00000368026.6:c.234G>C	1.37:g.160970817C>G	ENSP00000357005:p.Lys78Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	B7Z941	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like	p.K82N	ENST00000368026.6	37	c.246	CCDS1213.1	1	.	.	.	.	.	.	.	.	.	.	C	14.71	2.617342	0.46736	.	.	ENSG00000158769	ENST00000368026;ENST00000335772;ENST00000289779;ENST00000537746;ENST00000436182	T;T;T	0.66099	-0.19;0.34;-0.19	4.84	2.97	0.34412	Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin V-set, subgroup (1);Immunoglobulin-like fold (1);	0.190001	0.44285	D	0.000478	T	0.52451	0.1735	L	0.60957	1.885	0.40155	D	0.976993	P;P;P;P;P	0.51449	0.734;0.918;0.945;0.945;0.945	P;P;P;P;P	0.56042	0.451;0.762;0.79;0.79;0.79	T	0.50972	-0.8764	10	0.25106	T	0.35	.	7.5959	0.28048	0.0:0.8049:0.0:0.1951	.	82;78;78;78;78	B7Z5W1;B7Z941;Q6FIB4;Q9Y624;D3DVF0	.;.;.;JAM1_HUMAN;.	N	78;78;78;78;82	ENSP00000357005:K78N;ENSP00000440812:K78N;ENSP00000394809:K82N	ENSP00000289779:K78N	K	-	3	2	F11R	159237441	1.000000	0.71417	1.000000	0.80357	0.523000	0.34469	1.197000	0.32211	0.633000	0.30452	0.563000	0.77884	AAG	F11R	-	pfam_Ig_I-set,pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like		0.498	F11R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	F11R	HGNC	protein_coding	OTTHUMT00000071458.3	C	NM_016946		160970817	-1	no_errors	ENST00000436182	ensembl	human	known	70_37	missense	SNP	1.000	G
F7	2155	genome.wustl.edu	37	13	113768192	113768192	+	Missense_Mutation	SNP	G	G	C			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr13:113768192G>C	ENST00000375581.3	+	5	383	c.348G>C	c.(346-348)caG>caC	p.Q116H	F7_ENST00000346342.3_Missense_Mutation_p.Q94H|F7_ENST00000541084.1_Missense_Mutation_p.Q47H|F7_ENST00000473085.1_3'UTR	NM_000131.4	NP_000122.1	P08709	FA7_HUMAN	coagulation factor VII (serum prothrombin conversion accelerator)	116	EGF-like 1; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				blood coagulation (GO:0007596)|blood coagulation, extrinsic pathway (GO:0007598)|cellular protein metabolic process (GO:0044267)|circadian rhythm (GO:0007623)|organ regeneration (GO:0031100)|peptidyl-glutamic acid carboxylation (GO:0017187)|positive regulation of blood coagulation (GO:0030194)|positive regulation of cell migration (GO:0030335)|positive regulation of leukocyte chemotaxis (GO:0002690)|positive regulation of platelet-derived growth factor receptor signaling pathway (GO:0010641)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of protein kinase B signaling (GO:0051897)|post-translational protein modification (GO:0043687)|proteolysis (GO:0006508)|response to estrogen (GO:0043627)|response to growth hormone (GO:0060416)|response to vitamin K (GO:0032571)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	calcium ion binding (GO:0005509)|glycoprotein binding (GO:0001948)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			large_intestine(4)|lung(9)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	16	all_lung(23;0.000374)|Lung NSC(43;0.0107)|Lung SC(71;0.0753)|all_neural(89;0.0804)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)	all_cancers(25;0.118)|all_lung(25;0.0364)|all_epithelial(44;0.0393)|Lung NSC(25;0.128)|Breast(118;0.188)	all cancers(43;0.0737)|Epithelial(84;0.213)|BRCA - Breast invasive adenocarcinoma(86;0.218)		Coagulation Factor IX(DB00100)|Coagulation factor VIIa(DB00036)|Menadione(DB00170)	GTCCATGCCAGAATGGGGGCT	0.592																																																	0													109.0	101.0	104.0					13																	113768192		2203	4300	6503	SO:0001583	missense	2155				CCDS9528.1, CCDS9529.1, CCDS73602.1	13q34	2014-02-03			ENSG00000057593	ENSG00000057593	3.4.21.21		3544	protein-coding gene	gene with protein product	"""eptacog alfa"", ""FVII coagulation protein"", ""factor VII"""	613878				3264725, 2511201	Standard	NM_000131		Approved		uc001vsv.4	P08709	OTTHUMG00000017373	ENST00000375581.3:c.348G>C	13.37:g.113768192G>C	ENSP00000364731:p.Gln116His	Somatic		WXS	Illumina HiSeq	Phase_IV	B0YJC8|Q14339|Q5JVF1|Q5JVF2|Q9UD52|Q9UD53|Q9UD54	Missense_Mutation	SNP	pfam_Peptidase_S1_S6,pfam_GLA_domain,pfam_Peptidase_S1A_nudel,pfam_EG-like_dom,superfamily_Pept_cys/ser_Trypsin-like,superfamily_GLA_domain,smart_GLA_domain,smart_EGF-like_Ca-bd,smart_EG-like_dom,smart_Peptidase_S1_S6,pirsf_Pept_S1A_FX,pfscan_EG-like_dom,pfscan_GLA_domain,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A,prints_GLA_domain	p.Q116H	ENST00000375581.3	37	c.348	CCDS9528.1	13	.	.	.	.	.	.	.	.	.	.	G	12.99	2.104562	0.37145	.	.	ENSG00000057593	ENST00000346342;ENST00000541084;ENST00000375581	D;D;D	0.98400	-4.91;-2.41;-4.91	4.67	3.82	0.43975	Gamma-carboxyglutamic acid-rich (GLA) domain (1);EGF-like calcium-binding, conserved site (1);EGF (1);EGF-like calcium-binding (1);Epidermal growth factor-like, type 3 (1);	0.224065	0.38058	N	0.001836	D	0.97958	0.9328	L	0.45581	1.43	0.45183	D	0.998195	B;B;D;D	0.76494	0.363;0.416;0.999;0.999	B;B;D;D	0.68943	0.149;0.232;0.934;0.961	D	0.97120	0.9810	10	0.33141	T	0.24	.	13.2407	0.59995	0.0771:0.0:0.9229:0.0	.	47;47;94;116	F5H8B0;B4DPM2;P08709-2;P08709	.;.;.;FA7_HUMAN	H	94;47;116	ENSP00000329546:Q94H;ENSP00000442051:Q47H;ENSP00000364731:Q116H	ENSP00000329546:Q94H	Q	+	3	2	F7	112816193	1.000000	0.71417	0.991000	0.47740	0.130000	0.20726	2.444000	0.44890	1.170000	0.42753	0.655000	0.94253	CAG	F7	-	pfam_EG-like_dom,superfamily_GLA_domain,smart_EGF-like_Ca-bd,smart_EG-like_dom,pirsf_Pept_S1A_FX,pfscan_EG-like_dom		0.592	F7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	F7	HGNC	protein_coding	OTTHUMT00000045838.4	G	NM_000131		113768192	+1	no_errors	ENST00000375581	ensembl	human	known	70_37	missense	SNP	1.000	C
F9	2158	genome.wustl.edu	37	X	138643724	138643724	+	Nonsense_Mutation	SNP	C	C	T	rs137852248		TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chrX:138643724C>T	ENST00000218099.2	+	8	887	c.880C>T	c.(880-882)Cga>Tga	p.R294*	F9_ENST00000394090.2_Nonsense_Mutation_p.R256*	NM_000133.3	NP_000124.1	P00740	FA9_HUMAN	coagulation factor IX	294	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.		R -> G (in HEMB; severe).|R -> Q (in HEMB; mild to moderate; Dreihacken, Penafiel and Seattle-4). {ECO:0000269|PubMed:12588353, ECO:0000269|PubMed:1346975, ECO:0000269|PubMed:2472424, ECO:0000269|PubMed:7981722, ECO:0000269|PubMed:8257988}.		blood coagulation (GO:0007596)|blood coagulation, extrinsic pathway (GO:0007598)|blood coagulation, intrinsic pathway (GO:0007597)|cellular protein metabolic process (GO:0044267)|peptidyl-glutamic acid carboxylation (GO:0017187)|post-translational protein modification (GO:0043687)|proteolysis (GO:0006508)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|serine-type endopeptidase activity (GO:0004252)			breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(7)|lung(19)|ovary(1)|skin(1)	35	Acute lymphoblastic leukemia(192;0.000127)				Antihemophilic Factor(DB00025)|Menadione(DB00170)	AGAGCAAAAGCGAAATGTGAT	0.348																																																	0			GRCh37	CM940592|CM940593	F9	M	rs137852248						155.0	133.0	140.0					X																	138643724		2203	4300	6503	SO:0001587	stop_gained	2158			M11309	CCDS14666.1	Xq26.3-q27.1	2014-09-17	2008-08-01		ENSG00000101981	ENSG00000101981	3.4.21.22		3551	protein-coding gene	gene with protein product	"""Factor IX"", ""plasma thromboplastic component"", ""Christmas disease"", ""hemophilia B"""	300746					Standard	NM_000133		Approved	FIX	uc004fas.1	P00740	OTTHUMG00000022536	ENST00000218099.2:c.880C>T	X.37:g.138643724C>T	ENSP00000218099:p.Arg294*	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K9N4|F2RM36|Q5FBE1|Q5JYJ8	Nonsense_Mutation	SNP	pfam_Peptidase_S1_S6,pfam_GLA_domain,pfam_EG-like_dom,superfamily_Pept_cys/ser_Trypsin-like,superfamily_GLA_domain,smart_GLA_domain,smart_EGF-like_Ca-bd,smart_EG-like_dom,smart_Peptidase_S1_S6,pirsf_Pept_S1A_FX,pfscan_EG-like_dom,pfscan_GLA_domain,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A,prints_GLA_domain	p.R294*	ENST00000218099.2	37	c.880	CCDS14666.1	X	.	.	.	.	.	.	.	.	.	.	C	18.78	3.696237	0.68386	.	.	ENSG00000101981	ENST00000218099;ENST00000394090	.	.	.	5.42	3.52	0.40303	.	0.131690	0.51477	D	0.000082	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	12.6592	0.56803	0.3051:0.6949:0.0:0.0	.	.	.	.	X	294;256	.	ENSP00000218099:R294X	R	+	1	2	F9	138471390	0.001000	0.12720	0.977000	0.42913	0.975000	0.68041	0.671000	0.25172	0.995000	0.38917	0.544000	0.68410	CGA	F9	-	pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pirsf_Pept_S1A_FX,pfscan_Peptidase_S1_S6		0.348	F9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	F9	HGNC	protein_coding	OTTHUMT00000058557.1	C			138643724	+1	no_errors	ENST00000218099	ensembl	human	known	70_37	nonsense	SNP	0.001	T
F8	2157	genome.wustl.edu	37	X	154066024	154066024	+	Missense_Mutation	SNP	A	A	G			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chrX:154066024A>G	ENST00000360256.4	-	26	7104	c.6904T>C	c.(6904-6906)Ttt>Ctt	p.F2302L	F8_ENST00000330287.6_Missense_Mutation_p.F167L	NM_000132.3	NP_000123.1	P00451	FA8_HUMAN	coagulation factor VIII, procoagulant component	2302	F5/8 type C 2. {ECO:0000255|PROSITE- ProRule:PRU00081}.				acute-phase response (GO:0006953)|blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	copper ion binding (GO:0005507)|oxidoreductase activity (GO:0016491)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(27)|liver(1)|lung(47)|ovary(5)|pancreas(3)|prostate(1)|skin(5)|upper_aerodigestive_tract(5)|urinary_tract(2)	120	all_cancers(53;7.19e-17)|all_epithelial(53;9.83e-11)|all_lung(58;6.63e-07)|Lung NSC(58;2.08e-06)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)|Renal(33;0.214)				Coagulation Factor IX(DB00100)|Drotrecogin alfa(DB00055)	TTTCCCTGAAAAACCTGAAAG	0.468																																																	0			GRCh37	CM055240	F8	M							58.0	53.0	54.0					X																	154066024		2203	4300	6503	SO:0001583	missense	2157			M90707	CCDS35457.1, CCDS44026.1	Xq28	2014-09-17	2008-07-29		ENSG00000185010	ENSG00000185010			3546	protein-coding gene	gene with protein product	"""Factor VIIIF8B"", ""hemophilia A"""	300841		F8C		6438528, 3935400	Standard	NM_000132		Approved	FVIII, DXS1253E, HEMA	uc004fmt.3	P00451	OTTHUMG00000022688	ENST00000360256.4:c.6904T>C	X.37:g.154066024A>G	ENSP00000353393:p.Phe2302Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	Q14286|Q5HY69	Missense_Mutation	SNP	pfam_Coagulation_fac_5/8-C_type_dom,pfam_Cu-oxidase_3,pfam_Cu-oxidase_2,superfamily_Galactose-bd-like,superfamily_Cupredoxin,smart_Coagulation_fac_5/8-C_type_dom,pfscan_Coagulation_fac_5/8-C_type_dom	p.F2302L	ENST00000360256.4	37	c.6904	CCDS35457.1	X	.	.	.	.	.	.	.	.	.	.	a	22.1	4.249564	0.80024	.	.	ENSG00000185010	ENST00000330287;ENST00000360256	D;D	0.97870	-4.58;-4.58	4.74	4.74	0.60224	Coagulation factor 5/8 C-terminal type domain (3);Galactose-binding domain-like (1);	0.000000	0.85682	D	0.000000	D	0.98444	0.9482	M	0.82193	2.58	0.54753	D	0.999988	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	D	0.99116	1.0848	10	0.87932	D	0	-16.0851	9.7145	0.40265	1.0:0.0:0.0:0.0	.	2302;167	P00451;Q14286	FA8_HUMAN;.	L	167;2302	ENSP00000327895:F167L;ENSP00000353393:F2302L	ENSP00000327895:F167L	F	-	1	0	F8	153719218	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	5.423000	0.66458	1.553000	0.49476	0.427000	0.28365	TTT	F8	-	pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like,smart_Coagulation_fac_5/8-C_type_dom,pfscan_Coagulation_fac_5/8-C_type_dom		0.468	F8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	F8	HGNC	protein_coding	OTTHUMT00000058869.4	A			154066024	-1	no_errors	ENST00000360256	ensembl	human	known	70_37	missense	SNP	1.000	G
FAM120AOS	158293	genome.wustl.edu	37	9	96212837	96212837	+	Missense_Mutation	SNP	C	C	A			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr9:96212837C>A	ENST00000375412.5	-	2	1490	c.608G>T	c.(607-609)gGa>gTa	p.G203V	FAM120A_ENST00000340893.4_5'Flank|FAM120AOS_ENST00000479094.1_5'UTR|FAM120A_ENST00000277165.6_5'Flank|FAM120A_ENST00000375389.3_5'Flank|FAM120AOS_ENST00000423591.1_Missense_Mutation_p.G21V|FAM120A_ENST00000333936.5_5'Flank	NM_198841.2	NP_942138.2	Q5T036	F120S_HUMAN	family with sequence similarity 120A opposite strand	203										kidney(1)|large_intestine(1)|lung(3)|skin(1)	6						CAGCAGCTGTCCGGCCACAGC	0.507																																																	0													57.0	62.0	60.0					9																	96212837		2203	4300	6503	SO:0001583	missense	158293			AK056096	CCDS6705.1	9q22.32	2008-02-05	2006-07-04	2006-07-04	ENSG00000188938	ENSG00000188938			23389	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 10 opposite strand"""	C9orf10OS		14585507	Standard	NM_198841		Approved		uc004atu.4	Q5T036	OTTHUMG00000020251	ENST00000375412.5:c.608G>T	9.37:g.96212837C>A	ENSP00000364561:p.Gly203Val	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NN20	Missense_Mutation	SNP	NULL	p.G203V	ENST00000375412.5	37	c.608	CCDS6705.1	9	.	.	.	.	.	.	.	.	.	.	C	7.940	0.742474	0.15642	.	.	ENSG00000188938	ENST00000423591;ENST00000375412;ENST00000375409;ENST00000428378	T;T;T	0.63580	0.05;0.52;-0.05	2.14	-2.54	0.06307	.	.	.	.	.	T	0.33933	0.0880	N	0.08118	0	0.09310	N	0.999999	B	0.22604	0.072	B	0.12837	0.008	T	0.14896	-1.0456	9	0.87932	D	0	.	2.8524	0.05562	0.2311:0.2774:0.0:0.4915	.	203	Q5T036	F120S_HUMAN	V	21;203;20;20	ENSP00000414298:G21V;ENSP00000364561:G203V;ENSP00000416978:G20V	ENSP00000364558:G20V	G	-	2	0	FAM120AOS	95252658	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.978000	0.03778	-0.753000	0.04721	0.561000	0.74099	GGA	FAM120AOS	-	NULL		0.507	FAM120AOS-005	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM120AOS	HGNC	protein_coding	OTTHUMT00000053154.1	C			96212837	-1	no_errors	ENST00000375412	ensembl	human	known	70_37	missense	SNP	0.000	A
FAM151A	338094	genome.wustl.edu	37	1	55081757	55081757	+	Frame_Shift_Del	DEL	G	G	-			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr1:55081757delG	ENST00000302250.2	-	3	511	c.351delC	c.(349-351)cccfs	p.P117fs	ACOT11_ENST00000371316.3_Intron|FAM151A_ENST00000371304.2_Frame_Shift_Del_p.P117fs	NM_176782.2	NP_788954.2	Q8WW52	F151A_HUMAN	family with sequence similarity 151, member A	117						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)		p.T118fs*43(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	12						TGTAGATAGTGGGGGGGTGTG	0.592																																																	1	Deletion - Frameshift(1)	ovary(1)											108.0	86.0	93.0					1																	55081757		2203	4300	6503	SO:0001589	frameshift_variant	338094			AK091901	CCDS594.1	1p32.3	2008-02-05	2007-12-18	2007-12-18	ENSG00000162391	ENSG00000162391			25032	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 179"""	C1orf179		17273976	Standard	NM_176782		Approved	MGC27169	uc001cxn.3	Q8WW52	OTTHUMG00000009888	ENST00000302250.2:c.351delC	1.37:g.55081757delG	ENSP00000306888:p.Pro117fs	Somatic		WXS	Illumina HiSeq	Phase_IV	Q5VUG5|Q6DKH5|Q6UWV0|Q8NAX9|Q96KY5	Frame_Shift_Del	DEL	pfam_DUF2181	p.T118fs	ENST00000302250.2	37	c.351	CCDS594.1	1																																																																																			FAM151A	-	pfam_DUF2181		0.592	FAM151A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM151A	HGNC	protein_coding	OTTHUMT00000027342.1	G	NM_176782		55081757	-1	no_errors	ENST00000302250	ensembl	human	known	70_37	frame_shift_del	DEL	0.037	-
FAM171A1	221061	genome.wustl.edu	37	10	15296873	15296873	+	Missense_Mutation	SNP	G	G	A			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr10:15296873G>A	ENST00000378116.4	-	4	430	c.424C>T	c.(424-426)Cgg>Tgg	p.R142W		NM_001010924.1	NP_001010924.1	Q5VUB5	F1711_HUMAN	family with sequence similarity 171, member A1	142						extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				breast(6)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	52						GGCTGTGGCCGGGCACCTGCA	0.552																																																	0													41.0	41.0	41.0					10																	15296873		2203	4300	6503	SO:0001583	missense	221061			AK022946	CCDS31154.1	10p13	2008-06-16	2008-06-16	2008-06-16	ENSG00000148468	ENSG00000148468			23522	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 38"""	C10orf38			Standard	NM_001010924		Approved	FLJ12884	uc001iob.3	Q5VUB5	OTTHUMG00000017732	ENST00000378116.4:c.424C>T	10.37:g.15296873G>A	ENSP00000367356:p.Arg142Trp	Somatic		WXS	Illumina HiSeq	Phase_IV	D3DRT9|Q32M49|Q8N4I0	Missense_Mutation	SNP	pfam_Uncharacterised_FAM171	p.R142W	ENST00000378116.4	37	c.424	CCDS31154.1	10	.	.	.	.	.	.	.	.	.	.	G	19.35	3.809870	0.70797	.	.	ENSG00000148468	ENST00000378116;ENST00000396781	T	0.44083	0.93	5.11	4.2	0.49525	.	0.143577	0.43919	D	0.000509	T	0.62134	0.2403	M	0.72894	2.215	0.58432	D	0.99999	D	0.89917	1.0	D	0.81914	0.995	T	0.66540	-0.5898	10	0.87932	D	0	-33.8386	13.0656	0.59032	0.0:0.0:0.7074:0.2926	.	142	Q5VUB5	F1711_HUMAN	W	142;143	ENSP00000367356:R142W	ENSP00000367356:R142W	R	-	1	2	FAM171A1	15336879	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	2.934000	0.48956	1.276000	0.44395	0.650000	0.86243	CGG	FAM171A1	-	pfam_Uncharacterised_FAM171		0.552	FAM171A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM171A1	HGNC	protein_coding	OTTHUMT00000046984.1	G	XM_167709		15296873	-1	no_errors	ENST00000378116	ensembl	human	known	70_37	missense	SNP	1.000	A
FAM173B	134145	genome.wustl.edu	37	5	10239358	10239358	+	Missense_Mutation	SNP	G	G	A			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr5:10239358G>A	ENST00000511437.1	-	2	139	c.127C>T	c.(127-129)Ctt>Ttt	p.L43F	FAM173B_ENST00000510052.1_5'UTR|FAM173B_ENST00000280330.8_5'UTR|FAM173B_ENST00000510047.1_Missense_Mutation_p.L43F	NM_199133.3	NP_954584.2	Q6P4H8	F173B_HUMAN	family with sequence similarity 173, member B	43						integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	16						CCACCCACAAGCCCAGTAAGT	0.478																																																	0													99.0	105.0	103.0					5																	10239358		1986	4155	6141	SO:0001583	missense	134145				CCDS43301.1, CCDS58942.1	5p15.2	2008-08-08			ENSG00000150756	ENSG00000150756			27029	protein-coding gene	gene with protein product						12477932	Standard	NM_199133		Approved		uc003jeo.3	Q6P4H8	OTTHUMG00000161771	ENST00000511437.1:c.127C>T	5.37:g.10239358G>A	ENSP00000422338:p.Leu43Phe	Somatic		WXS	Illumina HiSeq	Phase_IV	B4DT41|B4DXK2|E9PBZ4	Missense_Mutation	SNP	NULL	p.L43F	ENST00000511437.1	37	c.127	CCDS43301.1	5	.	.	.	.	.	.	.	.	.	.	G	12.89	2.072801	0.36566	.	.	ENSG00000150756	ENST00000511437;ENST00000510047	T;T	0.19394	2.15;2.15	5.19	-1.08	0.09936	.	0.479567	0.22466	N	0.059686	T	0.11239	0.0274	L	0.34521	1.04	0.09310	N	1	B;P	0.34462	0.145;0.454	B;B	0.21546	0.034;0.035	T	0.13522	-1.0506	10	0.66056	D	0.02	-9.5003	7.4031	0.26975	0.0:0.5622:0.175:0.2628	.	43;43	E9PBZ4;Q6P4H8	.;F173B_HUMAN	F	43	ENSP00000422338:L43F;ENSP00000420876:L43F	ENSP00000424210:L43F	L	-	1	0	FAM173B	10292358	0.000000	0.05858	0.016000	0.15963	0.037000	0.13140	-0.101000	0.10973	-0.194000	0.10399	-0.262000	0.10625	CTT	FAM173B	-	NULL		0.478	FAM173B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FAM173B	HGNC	protein_coding	OTTHUMT00000366048.2	G	NM_199133		10239358	-1	no_errors	ENST00000511437	ensembl	human	known	70_37	missense	SNP	0.056	A
FAM180A	389558	genome.wustl.edu	37	7	135418889	135418889	+	Missense_Mutation	SNP	T	T	G			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr7:135418889T>G	ENST00000338588.3	-	3	621	c.356A>C	c.(355-357)aAg>aCg	p.K119T	FAM180A_ENST00000415751.1_Missense_Mutation_p.K119T|FAM180A_ENST00000435869.1_Intron	NM_205855.3	NP_995327.1	Q6UWF9	F180A_HUMAN	family with sequence similarity 180, member A	119						extracellular region (GO:0005576)				endometrium(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(2)|pancreas(1)	14						GTCTTCTTTCTTGAGGATGCC	0.612																																																	0													141.0	120.0	127.0					7																	135418889		2203	4300	6503	SO:0001583	missense	389558			AC091736, AK290250, AK310180, AY358803	CCDS5841.1	7q33	2008-07-25			ENSG00000189320	ENSG00000189320			33773	protein-coding gene	gene with protein product						12975309, 12690205	Standard	NM_205855		Approved	HWKM1940, UNQ1940	uc003vtd.3	Q6UWF9	OTTHUMG00000155537	ENST00000338588.3:c.356A>C	7.37:g.135418889T>G	ENSP00000342336:p.Lys119Thr	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RP85	Missense_Mutation	SNP	NULL	p.K119T	ENST00000338588.3	37	c.356	CCDS5841.1	7	.	.	.	.	.	.	.	.	.	.	T	19.40	3.820380	0.71028	.	.	ENSG00000189320	ENST00000338588;ENST00000415751	T;T	0.33216	1.42;1.42	5.65	-0.847	0.10730	.	0.513748	0.23861	N	0.043849	T	0.24198	0.0586	L	0.60455	1.87	0.34120	D	0.664038	B	0.15473	0.013	B	0.15052	0.012	T	0.08638	-1.0712	10	0.54805	T	0.06	-11.3555	5.4803	0.16719	0.0:0.3463:0.1467:0.507	.	119	Q6UWF9	F180A_HUMAN	T	119	ENSP00000342336:K119T;ENSP00000395467:K119T	ENSP00000342336:K119T	K	-	2	0	FAM180A	135069429	0.996000	0.38824	0.914000	0.36105	0.958000	0.62258	0.530000	0.23036	-0.132000	0.11557	0.459000	0.35465	AAG	FAM180A	-	NULL		0.612	FAM180A-201	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM180A	HGNC	protein_coding	OTTHUMT00000340554.2	T	NM_205855		135418889	-1	no_errors	ENST00000338588	ensembl	human	known	70_37	missense	SNP	0.821	G
FAM180A	389558	genome.wustl.edu	37	7	135418976	135418976	+	Missense_Mutation	SNP	C	C	T			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr7:135418976C>T	ENST00000338588.3	-	3	534	c.269G>A	c.(268-270)cGc>cAc	p.R90H	FAM180A_ENST00000415751.1_Missense_Mutation_p.R90H|FAM180A_ENST00000435869.1_Intron	NM_205855.3	NP_995327.1	Q6UWF9	F180A_HUMAN	family with sequence similarity 180, member A	90						extracellular region (GO:0005576)				endometrium(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(2)|pancreas(1)	14						GCAGACGGTGCGGAAGTCTGA	0.592																																																	0													114.0	109.0	111.0					7																	135418976		2203	4300	6503	SO:0001583	missense	389558			AC091736, AK290250, AK310180, AY358803	CCDS5841.1	7q33	2008-07-25			ENSG00000189320	ENSG00000189320			33773	protein-coding gene	gene with protein product						12975309, 12690205	Standard	NM_205855		Approved	HWKM1940, UNQ1940	uc003vtd.3	Q6UWF9	OTTHUMG00000155537	ENST00000338588.3:c.269G>A	7.37:g.135418976C>T	ENSP00000342336:p.Arg90His	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RP85	Missense_Mutation	SNP	NULL	p.R90H	ENST00000338588.3	37	c.269	CCDS5841.1	7	.	.	.	.	.	.	.	.	.	.	C	2.355	-0.347858	0.05208	.	.	ENSG00000189320	ENST00000338588;ENST00000415751	T;T	0.31247	1.5;1.5	5.35	-8.33	0.00992	.	0.997469	0.08131	N	0.993142	T	0.09730	0.0239	N	0.02142	-0.665	0.09310	N	0.999999	B	0.10296	0.003	B	0.04013	0.001	T	0.41893	-0.9483	10	0.21014	T	0.42	9.7488	11.4306	0.50038	0.0:0.2592:0.0895:0.6512	.	90	Q6UWF9	F180A_HUMAN	H	90	ENSP00000342336:R90H;ENSP00000395467:R90H	ENSP00000342336:R90H	R	-	2	0	FAM180A	135069516	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	-0.871000	0.04223	-1.900000	0.01097	-2.650000	0.00149	CGC	FAM180A	-	NULL		0.592	FAM180A-201	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM180A	HGNC	protein_coding	OTTHUMT00000340554.2	C	NM_205855		135418976	-1	no_errors	ENST00000338588	ensembl	human	known	70_37	missense	SNP	0.001	T
FAM186A	121006	genome.wustl.edu	37	12	50748028	50748028	+	Missense_Mutation	SNP	C	C	T			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr12:50748028C>T	ENST00000327337.5	-	4	2586	c.2587G>A	c.(2587-2589)Gaa>Aaa	p.E863K	FAM186A_ENST00000543111.1_Missense_Mutation_p.E863K	NM_001145475.1	NP_001138947.1	A6NE01	F186A_HUMAN	family with sequence similarity 186, member A	863																	GCCTTTTTTTCTTCCCAATTC	0.453																																					NSCLC(138;1796 1887 12511 19463 37884)												0													144.0	104.0	116.0					12																	50748028		692	1591	2283	SO:0001583	missense	121006				CCDS44878.1	12q13.13	2009-04-22			ENSG00000185958	ENSG00000185958			26980	protein-coding gene	gene with protein product							Standard	NM_001145475		Approved	LOC121006	uc001rwl.2	A6NE01	OTTHUMG00000167889	ENST00000327337.5:c.2587G>A	12.37:g.50748028C>T	ENSP00000329995:p.Glu863Lys	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	NULL	p.E863K	ENST00000327337.5	37	c.2587	CCDS44878.1	12	.	.	.	.	.	.	.	.	.	.	C	12.97	2.098391	0.37048	.	.	ENSG00000185958	ENST00000543111;ENST00000327337	T;T	0.08807	3.06;3.05	3.79	-2.2	0.06994	.	.	.	.	.	T	0.04543	0.0124	N	0.19112	0.55	0.09310	N	0.999999	B;B	0.20887	0.049;0.02	B;B	0.17433	0.018;0.008	T	0.44667	-0.9313	9	0.23302	T	0.38	.	5.8807	0.18854	0.127:0.5558:0.0:0.3171	.	863;863	F5GYN0;A6NE01	.;F186A_HUMAN	K	863	ENSP00000441337:E863K;ENSP00000329995:E863K	ENSP00000329995:E863K	E	-	1	0	FAM186A	49034295	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.892000	0.01610	-0.619000	0.05648	0.484000	0.47621	GAA	FAM186A	-	NULL		0.453	FAM186A-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FAM186A	HGNC	protein_coding	OTTHUMT00000396838.1	C	XM_001718353		50748028	-1	no_errors	ENST00000327337	ensembl	human	known	70_37	missense	SNP	0.000	T
FAM187B	148109	genome.wustl.edu	37	19	35715967	35715967	+	Missense_Mutation	SNP	C	C	T			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr19:35715967C>T	ENST00000324675.3	-	2	919	c.871G>A	c.(871-873)Gag>Aag	p.E291K		NM_152481.1	NP_689694.1	Q17R55	F187B_HUMAN	family with sequence similarity 187, member B	291						integral component of membrane (GO:0016021)				breast(1)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)	9						GCCACGAGCTCCTGCTGCACG	0.657																																																	0													23.0	27.0	25.0					19																	35715967		2203	4300	6503	SO:0001583	missense	148109			AK098526	CCDS12448.1	19q13.12	2008-10-16	2008-10-16	2008-10-16	ENSG00000177558	ENSG00000177558			26366	protein-coding gene	gene with protein product			"""transmembrane protein 162"""	TMEM162			Standard	NM_152481		Approved	FLJ25660	uc002nyk.1	Q17R55	OTTHUMG00000164450	ENST00000324675.3:c.871G>A	19.37:g.35715967C>T	ENSP00000323355:p.Glu291Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q8N7G6	Missense_Mutation	SNP	NULL	p.E291K	ENST00000324675.3	37	c.871	CCDS12448.1	19	.	.	.	.	.	.	.	.	.	.	C	15.49	2.848663	0.51164	.	.	ENSG00000177558	ENST00000324675	T	0.52983	0.64	4.28	3.24	0.37175	.	0.128995	0.35436	N	0.003209	T	0.31796	0.0808	L	0.28740	0.885	0.31347	N	0.683017	P	0.35507	0.506	B	0.35470	0.203	T	0.36335	-0.9752	10	0.45353	T	0.12	-43.8686	7.345	0.26658	0.0:0.8818:0.0:0.1182	.	291	Q17R55	F187B_HUMAN	K	291	ENSP00000323355:E291K	ENSP00000323355:E291K	E	-	1	0	FAM187B	40407807	0.955000	0.32602	0.997000	0.53966	0.891000	0.51852	0.661000	0.25023	2.377000	0.81083	0.563000	0.77884	GAG	FAM187B	-	NULL		0.657	FAM187B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM187B	HGNC	protein_coding	OTTHUMT00000378854.1	C	NM_152481		35715967	-1	no_errors	ENST00000324675	ensembl	human	known	70_37	missense	SNP	0.970	T
FAM189A1	23359	genome.wustl.edu	37	15	29415702	29415702	+	Missense_Mutation	SNP	G	G	A			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr15:29415702G>A	ENST00000261275.4	-	11	1459	c.1460C>T	c.(1459-1461)gCg>gTg	p.A487V		NM_015307.1	NP_056122.1	O60320	F1891_HUMAN	family with sequence similarity 189, member A1	487						integral component of membrane (GO:0016021)				central_nervous_system(2)|endometrium(2)|kidney(1)|lung(1)|stomach(1)	7						CCTGGCATCCGCATAGGCCTT	0.592																																																	0													126.0	118.0	120.0					15																	29415702		692	1591	2283	SO:0001583	missense	23359				CCDS45198.1	15q12	2014-02-12				ENSG00000104059			29075	protein-coding gene	gene with protein product	"""transmembrane protein 228"""					9628581	Standard	NM_015307		Approved	KIAA0574, TMEM228	uc010azk.1	O60320		ENST00000261275.4:c.1460C>T	15.37:g.29415702G>A	ENSP00000261275:p.Ala487Val	Somatic		WXS	Illumina HiSeq	Phase_IV	A0PK09	Missense_Mutation	SNP	pfam_CD20-like	p.A487V	ENST00000261275.4	37	c.1460	CCDS45198.1	15	.	.	.	.	.	.	.	.	.	.	G	0.661	-0.805704	0.02819	.	.	ENSG00000104059	ENST00000261275	T	0.10005	2.92	5.2	-0.837	0.10766	.	0.735360	0.13059	N	0.417030	T	0.05456	0.0144	L	0.29908	0.895	0.29275	N	0.870436	B	0.10296	0.003	B	0.06405	0.002	T	0.46133	-0.9213	10	0.02654	T	1	-13.483	6.2337	0.20750	0.1696:0.0:0.2416:0.5888	.	487	O60320	F1891_HUMAN	V	487	ENSP00000261275:A487V	ENSP00000261275:A487V	A	-	2	0	FAM189A1	27202994	0.903000	0.30736	0.003000	0.11579	0.305000	0.27757	1.910000	0.39927	-0.036000	0.13669	-0.905000	0.02835	GCG	FAM189A1	-	NULL		0.592	FAM189A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM189A1	HGNC	protein_coding	OTTHUMT00000417254.1	G	NM_015307		29415702	-1	no_errors	ENST00000261275	ensembl	human	known	70_37	missense	SNP	0.967	A
TVP23C	201158	genome.wustl.edu	37	17	15441469	15441469	+	Intron	SNP	C	C	T	rs568909748	byFrequency	TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr17:15441469C>T	ENST00000225576.3	-	5	558				TVP23C_ENST00000583206.1_5'Flank|TVP23C_ENST00000584811.1_Splice_Site|TVP23C_ENST00000438826.3_Splice_Site|TVP23C_ENST00000428082.2_Splice_Site|TVP23C-CDRT4_ENST00000522212.2_Intron|TVP23C_ENST00000519970.1_Intron	NM_145301.2	NP_660344.2	Q96ET8	TV23C_HUMAN	trans-golgi network vesicle protein 23 homolog C (S. cerevisiae)							integral component of membrane (GO:0016021)											TCCAGTGTTCCGCAAAAGACA	0.393													c|||	3	0.000599042	0.0015	0.0	5008	,	,		17476	0.001		0.0	False		,,,				2504	0.0																0																																										SO:0001627	intron_variant	201158			BC011952	CCDS11170.1, CCDS45617.1	17p12	2012-11-29	2012-11-29	2012-11-29	ENSG00000175106	ENSG00000175106			30453	protein-coding gene	gene with protein product			"""family with sequence similarity 18, member B2"""	FAM18B2			Standard	NM_001135036		Approved	MGC8763	uc002goq.2	Q96ET8	OTTHUMG00000171461	ENST00000225576.3:c.462+7629G>A	17.37:g.15441469C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q3LIC7	Splice_Site	SNP	-	e5-2	ENST00000225576.3	37	c.162-2	CCDS11170.1	17	.	.	.	.	.	.	.	.	.	.	c	13.58	2.280351	0.40294	.	.	ENSG00000175106	ENST00000438826	.	.	.	4.5	4.5	0.54988	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.0583	0.25111	0.0:0.1033:0.0:0.8967	.	.	.	.	.	-1	.	.	.	-	.	.	FAM18B2	15382194	1.000000	0.71417	0.996000	0.52242	0.698000	0.40448	1.919000	0.40015	0.852000	0.35287	-0.352000	0.07741	.	FAM18B2	-	-		0.393	TVP23C-001	KNOWN	basic|CCDS	protein_coding	FAM18B2	HGNC	protein_coding	OTTHUMT00000130705.2	C	NM_145301		15441469	-1	no_errors	ENST00000523573	ensembl	human	known	70_37	splice_site	SNP	0.998	T
FAM193B	54540	genome.wustl.edu	37	5	176966139	176966140	+	Frame_Shift_Ins	INS	-	-	GG			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr5:176966139_176966140insGG	ENST00000514747.1	-	2	267_268	c.219_220insCC	c.(217-222)cccgccfs	p.A74fs	FAM193B_ENST00000508298.1_Intron|FAM193B_ENST00000443375.2_5'UTR|FAM193B_ENST00000329540.5_5'UTR	NM_001190946.1	NP_001177875.1	Q96PV7	F193B_HUMAN	family with sequence similarity 193, member B	74						cytoplasm (GO:0005737)|nucleus (GO:0005634)				kidney(1)|large_intestine(3)	4						TGGCTGGAGGCGGGGGGGACCT	0.525																																																	0																																										SO:0001589	frameshift_variant	54540				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.218_219dupCC	5.37:g.176966144_176966145dupGG	ENSP00000422131:p.Ala74fs	Somatic		WXS	Illumina HiSeq	Phase_IV	E9PET5|Q9NW00	Frame_Shift_Ins	INS	NULL	p.A73fs	ENST00000514747.1	37	c.220_219	CCDS54954.1	5																																																																																			FAM193B	-	NULL		0.525	FAM193B-003	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	FAM193B	HGNC	protein_coding	OTTHUMT00000373121.1	-	NM_019057		176966140	-1	no_errors	ENST00000514747	ensembl	human	novel	70_37	frame_shift_ins	INS	0.001:0.001	GG
ERICH6	131831	genome.wustl.edu	37	3	150404106	150404106	+	Missense_Mutation	SNP	A	A	T	rs201934751		TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr3:150404106A>T	ENST00000295910.6	-	4	641	c.589T>A	c.(589-591)Tgt>Agt	p.C197S	FAM194A_ENST00000491361.1_Missense_Mutation_p.C51S	NM_152394.3	NP_689607.2														NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	38						GATGCCAGACATTCAGGTTCA	0.398																																																	0								A	SER/CYS	0,4406		0,0,2203	149.0	145.0	146.0		589	0.6	0.0	3		146	1,8599	1.2+/-3.3	0,1,4299	yes	missense	FAM194A	NM_152394.3	112	0,1,6502	TT,TA,AA		0.0116,0.0,0.0077	benign	197/664	150404106	1,13005	2203	4300	6503	SO:0001583	missense	131831																														ENST00000295910.6:c.589T>A	3.37:g.150404106A>T	ENSP00000295910:p.Cys197Ser	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	NULL	p.C197S	ENST00000295910.6	37	c.589	CCDS3151.2	3	.	.	.	.	.	.	.	.	.	.	A	0.070	-1.203544	0.01581	0.0	1.16E-4	ENSG00000163645	ENST00000295910;ENST00000491361;ENST00000313811	T;T	0.10860	3.0;2.83	3.41	0.625	0.17665	.	2.837000	0.01370	N	0.012524	T	0.04182	0.0116	N	0.02011	-0.69	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.35375	-0.9791	10	0.08837	T	0.75	0.0111	6.3069	0.21143	0.4887:0.0:0.0:0.5113	.	197	Q7L0X2	F194A_HUMAN	S	197;51;155	ENSP00000295910:C197S;ENSP00000419366:C51S	ENSP00000295910:C197S	C	-	1	0	FAM194A	151886796	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.430000	0.06973	0.109000	0.17891	0.402000	0.26972	TGT	FAM194A	-	NULL		0.398	FAM194A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM194A	HGNC	protein_coding	OTTHUMT00000257666.1	A			150404106	-1	no_errors	ENST00000295910	ensembl	human	known	70_37	missense	SNP	0.000	T
FAM198B	51313	genome.wustl.edu	37	4	159048577	159048577	+	Silent	SNP	T	T	C			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr4:159048577T>C	ENST00000296530.8	-	5	2163	c.1542A>G	c.(1540-1542)gtA>gtG	p.V514V	FAM198B_ENST00000585682.1_Silent_p.V514V|FAM198B_ENST00000393807.5_Silent_p.V522V	NM_016613.6	NP_057697.2	Q6UWH4	F198B_HUMAN	family with sequence similarity 198, member B	514						Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(14)|skin(2)|urinary_tract(1)	26						TCATAGGTAATACTTTGACCC	0.348																																																	0													204.0	213.0	210.0					4																	159048577		2203	4300	6503	SO:0001819	synonymous_variant	51313				CCDS3798.1, CCDS34087.1	4q32.1	2012-11-29	2009-10-19	2009-10-19	ENSG00000164125	ENSG00000164125			25312	protein-coding gene	gene with protein product			"""chromosome 4 open reading frame 18"""	C4orf18		12975309	Standard	NM_001031700		Approved	FLJ38155, DKFZp434L142	uc003ipr.4	Q6UWH4	OTTHUMG00000161537	ENST00000296530.8:c.1542A>G	4.37:g.159048577T>C		Somatic		WXS	Illumina HiSeq	Phase_IV	Q498Z3|Q6IAF9|Q6ZMF2|Q86XL0	Silent	SNP	NULL	p.V522	ENST00000296530.8	37	c.1566	CCDS3798.1	4																																																																																			FAM198B	-	NULL		0.348	FAM198B-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	FAM198B	HGNC	protein_coding	OTTHUMT00000365230.1	T	NM_001031700, NM_016613		159048577	-1	no_errors	ENST00000393807	ensembl	human	known	70_37	silent	SNP	0.000	C
FAM19A3	284467	genome.wustl.edu	37	1	113265740	113265740	+	Missense_Mutation	SNP	C	C	T			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr1:113265740C>T	ENST00000361886.3	+	3	277	c.218C>T	c.(217-219)tCt>tTt	p.S73F	FAM19A3_ENST00000369630.3_Missense_Mutation_p.S73F	NM_001004440.1|NM_182759.2	NP_001004440.1|NP_877436.1	Q7Z5A8	F19A3_HUMAN	family with sequence similarity 19 (chemokine (C-C motif)-like), member A3	73						extracellular region (GO:0005576)				lung(4)|ovary(1)	5	Lung SC(450;0.246)	all_cancers(81;1.44e-07)|all_epithelial(167;7.64e-07)|all_lung(203;2.16e-05)|Lung NSC(69;3.86e-05)		Lung(183;0.0234)|all cancers(265;0.0246)|Epithelial(280;0.0342)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		TCCTGTTTTTCTGGCCAGGTG	0.662																																																	0													37.0	34.0	35.0					1																	113265740		2203	4300	6503	SO:0001583	missense	284467			AY325119	CCDS856.1, CCDS30806.1	1p13.2	2008-02-05			ENSG00000184599	ENSG00000184599			21590	protein-coding gene	gene with protein product						15028294	Standard	NM_182759		Approved	TAFA-3	uc001ecu.3	Q7Z5A8	OTTHUMG00000012020	ENST00000361886.3:c.218C>T	1.37:g.113265740C>T	ENSP00000355042:p.Ser73Phe	Somatic		WXS	Illumina HiSeq	Phase_IV	B7ZLU0|Q2M1P9|Q7Z5A6	Missense_Mutation	SNP	pfam_Chemokine-like_FAM19A2	p.S73F	ENST00000361886.3	37	c.218	CCDS856.1	1	.	.	.	.	.	.	.	.	.	.	C	34	5.320767	0.95682	.	.	ENSG00000184599	ENST00000369630;ENST00000361886	.	.	.	5.82	5.82	0.92795	.	0.325692	0.28436	N	0.015348	T	0.51907	0.1702	L	0.29908	0.895	0.48975	D	0.999733	P;P	0.49559	0.773;0.925	P;P	0.51355	0.58;0.667	T	0.57051	-0.7877	9	0.87932	D	0	-21.9486	19.6803	0.95960	0.0:1.0:0.0:0.0	.	73;73	Q7Z5A8;Q7Z5A8-2	F19A3_HUMAN;.	F	73	.	ENSP00000355042:S73F	S	+	2	0	FAM19A3	113067263	0.986000	0.35501	0.008000	0.14137	0.992000	0.81027	7.810000	0.86072	2.756000	0.94617	0.561000	0.74099	TCT	FAM19A3	-	pfam_Chemokine-like_FAM19A2		0.662	FAM19A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM19A3	HGNC	protein_coding	OTTHUMT00000033255.1	C	NM_182759		113265740	+1	no_errors	ENST00000369630	ensembl	human	known	70_37	missense	SNP	0.975	T
FAM200B	285550	genome.wustl.edu	37	4	15689274	15689274	+	Missense_Mutation	SNP	T	T	C			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr4:15689274T>C	ENST00000422728.2	+	2	1512	c.674T>C	c.(673-675)tTt>tCt	p.F225S	FAM200B_ENST00000504137.1_Intron	NM_001145191.1	NP_001138663.1	P0CF97	F200B_HUMAN	family with sequence similarity 200, member B	225							nucleic acid binding (GO:0003676)			endometrium(1)|kidney(1)	2						ggtatagattttgcaatccag	0.338																																																	0													27.0	22.0	23.0					4																	15689274		692	1583	2275	SO:0001583	missense	285550			BC048993	CCDS47028.1	4p15.32	2014-04-02			ENSG00000237765	ENSG00000237765			27740	protein-coding gene	gene with protein product	"""chromosome 4 open reading frame 53"""						Standard	NM_001145191		Approved	C4orf53	uc003gof.4	P0CF97	OTTHUMG00000160279	ENST00000422728.2:c.674T>C	4.37:g.15689274T>C	ENSP00000393017:p.Phe225Ser	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	superfamily_RNaseH-like_dom,superfamily_PAH	p.F225S	ENST00000422728.2	37	c.674	CCDS47028.1	4	.	.	.	.	.	.	.	.	.	.	T	15.08	2.728188	0.48833	.	.	ENSG00000237765	ENST00000422728	T	0.28666	1.6	3.11	1.86	0.25419	Ribonuclease H-like (1);	.	.	.	.	T	0.52645	0.1747	M	0.82517	2.595	0.22017	N	0.99941	D	0.89917	1.0	D	0.83275	0.996	T	0.33111	-0.9881	8	.	.	.	.	5.4194	0.16392	0.2503:0.0:0.0:0.7497	.	225	P0CF97	F200B_HUMAN	S	225	ENSP00000393017:F225S	.	F	+	2	0	FAM200B	15298372	1.000000	0.71417	0.958000	0.39756	0.998000	0.95712	0.579000	0.23788	0.541000	0.28827	0.528000	0.53228	TTT	FAM200B	-	superfamily_RNaseH-like_dom		0.338	FAM200B-005	PUTATIVE	basic|appris_principal|CCDS	protein_coding	FAM200B	HGNC	protein_coding	OTTHUMT00000360100.1	T	NM_001145191		15689274	+1	no_errors	ENST00000422728	ensembl	human	putative	70_37	missense	SNP	0.980	C
FAM205A	259308	genome.wustl.edu	37	9	34724853	34724853	+	Missense_Mutation	SNP	G	G	A			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr9:34724853G>A	ENST00000378788.3	-	4	2423	c.2384C>T	c.(2383-2385)gCg>gTg	p.A795V		NM_001141917.1	NP_001135389.1	Q6ZU69	F205A_HUMAN	family with sequence similarity 205, member A	795						integral component of membrane (GO:0016021)|nucleus (GO:0005634)				breast(1)|endometrium(2)|kidney(1)	4						CCTGGGGAGCGCCACATAATA	0.567																																																	0													9.0	7.0	8.0					9																	34724853		691	1566	2257	SO:0001583	missense	259308				CCDS55305.1	9p13.3	2014-05-16			ENSG00000205108	ENSG00000205108			41911	protein-coding gene	gene with protein product							Standard	NM_001141917		Approved	C9orf144B	uc011lor.2	Q6ZU69	OTTHUMG00000000448	ENST00000378788.3:c.2384C>T	9.37:g.34724853G>A	ENSP00000417711:p.Ala795Val	Somatic		WXS	Illumina HiSeq	Phase_IV	A8MVW7	Missense_Mutation	SNP	NULL	p.A795V	ENST00000378788.3	37	c.2384	CCDS55305.1	9	.	.	.	.	.	.	.	.	.	.	G	14.23	2.473019	0.43942	.	.	ENSG00000205108	ENST00000378788	T	0.58797	0.31	4.56	3.65	0.41850	.	.	.	.	.	T	0.64864	0.2637	L	0.36672	1.1	0.29438	N	0.85934	D	0.89917	1.0	D	0.87578	0.998	T	0.59279	-0.7484	9	0.72032	D	0.01	.	9.2581	0.37595	0.1044:0.0:0.8956:0.0	.	795	Q6ZU69	F205A_HUMAN	V	795	ENSP00000417711:A795V	ENSP00000417711:A795V	A	-	2	0	RP11-195F19.10	34714853	0.221000	0.23642	0.998000	0.56505	0.037000	0.13140	1.400000	0.34577	1.022000	0.39626	0.650000	0.86243	GCG	FAM205A	-	NULL		0.567	FAM205A-001	NOVEL	basic|appris_principal|CCDS	protein_coding	FAM205A	HGNC	protein_coding	OTTHUMT00000001150.2	G	NM_001141917		34724853	-1	no_errors	ENST00000378788	ensembl	human	novel	70_37	missense	SNP	0.998	A
NUTM2D	728130	genome.wustl.edu	37	10	89118101	89118101	+	Missense_Mutation	SNP	C	C	G			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr10:89118101C>G	ENST00000381697.2	+	1	677	c.79C>G	c.(79-81)Ctg>Gtg	p.L27V	NUTM2D_ENST00000412718.1_Missense_Mutation_p.L27V|LINC00863_ENST00000439559.2_lincRNA			Q5VT03	NTM2D_HUMAN	NUT family member 2D	27																	AGGTCACTCTCTGGGTCTTAC	0.507																																																	0													187.0	224.0	212.0					10																	89118101		1943	4164	6107	SO:0001583	missense	728130					10q23.31	2013-03-14	2013-03-14	2013-03-14	ENSG00000214562	ENSG00000214562			23447	protein-coding gene	gene with protein product			"""family with sequence similarity 22, member D"""	FAM22D			Standard	NR_075100		Approved		uc001kes.3	Q5VT03	OTTHUMG00000018672	ENST00000381697.2:c.79C>G	10.37:g.89118101C>G	ENSP00000371116:p.Leu27Val	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NGV9	Missense_Mutation	SNP	NULL	p.L27V	ENST00000381697.2	37	c.79		10	.	.	.	.	.	.	.	.	.	.	C	6.357	0.433982	0.12045	.	.	ENSG00000214562	ENST00000330762;ENST00000381697;ENST00000412718	T;T	0.25749	2.6;1.78	0.86	0.86	0.19042	.	.	.	.	.	T	0.12518	0.0304	.	.	.	0.09310	N	1	B;B	0.33919	0.432;0.171	B;B	0.25884	0.064;0.014	T	0.19031	-1.0318	8	0.30854	T	0.27	.	5.11	0.14804	0.0:1.0:0.0:0.0	.	27;27	Q5VT03-2;Q5VT03	.;FA22D_HUMAN	V	98;27;27	ENSP00000371116:L27V;ENSP00000396080:L27V	ENSP00000328439:L98V	L	+	1	2	FAM22D	89108081	0.092000	0.21681	0.011000	0.14972	0.044000	0.14063	0.922000	0.28734	0.769000	0.33313	0.175000	0.17021	CTG	FAM22D	-	NULL		0.507	NUTM2D-004	KNOWN	basic|appris_candidate_longest	protein_coding	FAM22D	HGNC	protein_coding	OTTHUMT00000470142.1	C	NR_075100		89118101	+1	no_errors	ENST00000381697	ensembl	human	known	70_37	missense	SNP	0.014	G
FAM46A	55603	genome.wustl.edu	37	6	82459822	82459822	+	Missense_Mutation	SNP	C	C	T			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr6:82459822C>T	ENST00000320172.6	-	3	1233	c.919G>A	c.(919-921)Gcc>Acc	p.A307T	FAM46A_ENST00000369756.3_Missense_Mutation_p.A388T|FAM46A_ENST00000369754.3_Missense_Mutation_p.A326T	NM_017633.2	NP_060103.2	Q96IP4	FA46A_HUMAN	family with sequence similarity 46, member A	307					regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)		poly(A) RNA binding (GO:0044822)	p.A307T(1)		endometrium(2)|large_intestine(3)|lung(5)|skin(1)|urinary_tract(1)	12		all_cancers(76;6.74e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000282)|all_epithelial(107;0.0104)		BRCA - Breast invasive adenocarcinoma(397;0.0428)		TCATCAGAGGCGGGCCTAAAG	0.483																																																	1	Substitution - Missense(1)	large_intestine(1)											50.0	54.0	53.0					6																	82459822		2203	4300	6503	SO:0001583	missense	55603			AF350451	CCDS34489.1	6q14	2008-07-03	2004-08-19	2004-08-26	ENSG00000112773	ENSG00000112773			18345	protein-coding gene	gene with protein product		611357	"""chromosome 6 open reading frame 37"""	C6orf37		12054608, 17803723	Standard	NM_017633		Approved	FLJ20037	uc003pjg.3	Q96IP4	OTTHUMG00000015097	ENST00000320172.6:c.919G>A	6.37:g.82459822C>T	ENSP00000318298:p.Ala307Thr	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K7U4|Q5TF86|Q8NFZ9|Q9BW32|Q9NXV5	Missense_Mutation	SNP	pfam_DUF1693	p.A388T	ENST00000320172.6	37	c.1162	CCDS34489.1	6	.	.	.	.	.	.	.	.	.	.	C	11.08	1.533635	0.27387	.	.	ENSG00000112773	ENST00000369754;ENST00000320172;ENST00000369756	T;T;T	0.24723	1.84;1.84;1.84	5.95	5.09	0.68999	Domain of unknown function DUF1693 (1);	0.000000	0.85682	D	0.000000	T	0.12689	0.0308	L	0.45698	1.435	0.80722	D	1	B;B	0.27117	0.12;0.168	B;B	0.18871	0.023;0.02	T	0.02519	-1.1147	10	0.44086	T	0.13	-1.583	15.136	0.72566	0.0:0.9327:0.0:0.0673	.	307;326	Q96IP4;Q96IP4-2	FA46A_HUMAN;.	T	326;307;388	ENSP00000358769:A326T;ENSP00000318298:A307T;ENSP00000358771:A388T	ENSP00000318298:A307T	A	-	1	0	FAM46A	82516541	1.000000	0.71417	0.913000	0.36048	0.004000	0.04260	7.487000	0.81328	1.535000	0.49220	-0.136000	0.14681	GCC	FAM46A	-	pfam_DUF1693		0.483	FAM46A-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	FAM46A	HGNC	protein_coding	OTTHUMT00000041331.1	C			82459822	-1	no_errors	ENST00000369756	ensembl	human	known	70_37	missense	SNP	1.000	T
FAM47A	158724	genome.wustl.edu	37	X	34148613	34148613	+	Missense_Mutation	SNP	C	C	T			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chrX:34148613C>T	ENST00000346193.3	-	1	1834	c.1783G>A	c.(1783-1785)Gtt>Att	p.V595I		NM_203408.3	NP_981953.2	Q5JRC9	FA47A_HUMAN	family with sequence similarity 47, member A	595										NS(1)|biliary_tract(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(5)|large_intestine(17)|lung(44)|ovary(5)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(2)	97						GAGTCAGAAACGCACTCTTTT	0.453																																																	0													98.0	89.0	92.0					X																	34148613		2152	4259	6411	SO:0001583	missense	158724			BC026171	CCDS43926.1	Xp21.1	2004-08-09			ENSG00000185448	ENSG00000185448			29962	protein-coding gene	gene with protein product	"""similar to hypothetical protein FLJ35782"""					12477932	Standard	NM_203408		Approved	MGC27003	uc004ddg.3	Q5JRC9	OTTHUMG00000021339	ENST00000346193.3:c.1783G>A	X.37:g.34148613C>T	ENSP00000345029:p.Val595Ile	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K8I9|Q8TAA0	Missense_Mutation	SNP	NULL	p.V595I	ENST00000346193.3	37	c.1783	CCDS43926.1	X	.	.	.	.	.	.	.	.	.	.	c	4.145	0.025305	0.08054	.	.	ENSG00000185448	ENST00000346193	T	0.41758	0.99	1.23	0.13	0.14746	.	.	.	.	.	T	0.20251	0.0487	N	0.22421	0.69	0.09310	N	1	B	0.33494	0.414	B	0.23150	0.044	T	0.15407	-1.0438	9	0.18710	T	0.47	.	5.287	0.15706	0.0:0.4498:0.5502:0.0	.	595	Q5JRC9	FA47A_HUMAN	I	595	ENSP00000345029:V595I	ENSP00000345029:V595I	V	-	1	0	FAM47A	34058534	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.985000	0.03751	-0.024000	0.13941	-0.449000	0.05564	GTT	FAM47A	-	NULL		0.453	FAM47A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM47A	HGNC	protein_coding	OTTHUMT00000056205.1	C	NM_203408		34148613	-1	no_errors	ENST00000346193	ensembl	human	known	70_37	missense	SNP	0.000	T
FAM83E	54854	genome.wustl.edu	37	19	49116504	49116504	+	Silent	SNP	G	G	A			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr19:49116504G>A	ENST00000263266.3	-	1	315	c.126C>T	c.(124-126)ggC>ggT	p.G42G	FAM83E_ENST00000595110.1_5'Flank	NM_017708.3	NP_060178.2	Q2M2I3	FA83E_HUMAN	family with sequence similarity 83, member E	42										NS(1)|endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|urinary_tract(2)	10		all_epithelial(76;2.38e-06)|all_lung(116;4.89e-06)|Lung NSC(112;9.34e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000102)|all cancers(93;0.000117)|GBM - Glioblastoma multiforme(486;0.00627)|Epithelial(262;0.0158)		ACGCCTCCGCGCCCTTGCTCA	0.667																																																	0													17.0	21.0	19.0					19																	49116504		2056	4206	6262	SO:0001819	synonymous_variant	54854			AK000207	CCDS42587.1	19q13.33	2013-10-24			ENSG00000105523	ENSG00000105523			25972	protein-coding gene	gene with protein product							Standard	NM_017708		Approved	FLJ20200	uc002pjn.2	Q2M2I3	OTTHUMG00000183315	ENST00000263266.3:c.126C>T	19.37:g.49116504G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q9NXK1	Silent	SNP	pfam_DUF1669,superfamily_Acyl_CoA_acyltransferase	p.G42	ENST00000263266.3	37	c.126	CCDS42587.1	19																																																																																			FAM83E	-	pfam_DUF1669,superfamily_Acyl_CoA_acyltransferase		0.667	FAM83E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM83E	HGNC	protein_coding	OTTHUMT00000466145.1	G	NM_017708		49116504	-1	no_errors	ENST00000263266	ensembl	human	known	70_37	silent	SNP	0.000	A
FAM84A	151354	genome.wustl.edu	37	2	14774273	14774273	+	Frame_Shift_Del	DEL	C	C	-	rs78327295		TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr2:14774273delC	ENST00000295092.2	+	2	458	c.170delC	c.(169-171)gccfs	p.A57fs	FAM84A_ENST00000331243.4_Frame_Shift_Del_p.A57fs|AC011897.1_ENST00000581929.1_5'Flank	NM_145175.2	NP_660158.2	Q96KN4	FA84A_HUMAN	family with sequence similarity 84, member A	57										endometrium(1)|kidney(1)|large_intestine(2)|lung(4)|pancreas(1)|upper_aerodigestive_tract(1)	10	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.197)		GBM - Glioblastoma multiforme(1;0.00969)			GGCGTGAAGGCCCCCCCGGGT	0.632																																																	0													28.0	32.0	31.0					2																	14774273		2203	4300	6503	SO:0001589	frameshift_variant	151354			AJ417080, BC026346	CCDS1684.1	2p24.3	2005-08-09			ENSG00000162981	ENSG00000162981			20743	protein-coding gene	gene with protein product	"""neurological/sensory 1"""	611234				14702039	Standard	NM_145175		Approved	NSE1, FLJ35392	uc002rbz.2	Q96KN4	OTTHUMG00000119093	ENST00000295092.2:c.170delC	2.37:g.14774273delC	ENSP00000295092:p.Ala57fs	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NP76|Q86UZ2|Q8NAH7|Q8TAM5	Frame_Shift_Del	DEL	pfam_LRAT-like_dom	p.P59fs	ENST00000295092.2	37	c.170	CCDS1684.1	2																																																																																			FAM84A	-	NULL		0.632	FAM84A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM84A	HGNC	protein_coding	OTTHUMT00000239308.2	C	NM_145175		14774273	+1	no_errors	ENST00000295092	ensembl	human	known	70_37	frame_shift_del	DEL	0.532	-
FANCD2OS	115795	genome.wustl.edu	37	3	10146175	10146175	+	Missense_Mutation	SNP	C	C	T			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr3:10146175C>T	ENST00000450660.2	-	2	500	c.284G>A	c.(283-285)cGc>cAc	p.R95H	FANCD2OS_ENST00000524279.1_Missense_Mutation_p.R95H	NM_001164839.1	NP_001158311.1	Q96PS1	FACOS_HUMAN	FANCD2 opposite strand	95																	TCCACTGAGGCGGATGGGCTG	0.522																																																	0													117.0	108.0	111.0					3																	10146175		2203	4300	6503	SO:0001583	missense	115795			AF230334	CCDS2596.1	3p25.3	2012-11-12	2012-11-12	2012-11-12	ENSG00000163705	ENSG00000163705			28623	protein-coding gene	gene with protein product			"""chromosome 3 open reading frame 24"""	C3orf24		12477932	Standard	NM_001164839		Approved	MGC40179	uc003buz.3	Q96PS1	OTTHUMG00000128669	ENST00000450660.2:c.284G>A	3.37:g.10146175C>T	ENSP00000429608:p.Arg95His	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	NULL	p.R95H	ENST00000450660.2	37	c.284	CCDS2596.1	3	.	.	.	.	.	.	.	.	.	.	C	23.4	4.415681	0.83449	.	.	ENSG00000163705	ENST00000524279;ENST00000450660	.	.	.	5.6	5.6	0.85130	.	0.000000	0.64402	D	0.000001	T	0.40956	0.1138	L	0.29908	0.895	0.46396	D	0.999026	D	0.55385	0.971	B	0.37015	0.239	T	0.50030	-0.8875	9	0.87932	D	0	.	17.1639	0.86810	0.0:1.0:0.0:0.0	.	95	Q96PS1	CC024_HUMAN	H	95	.	ENSP00000429608:R95H	R	-	2	0	C3orf24	10121175	1.000000	0.71417	1.000000	0.80357	0.893000	0.52053	3.092000	0.50207	2.665000	0.90641	0.650000	0.86243	CGC	FANCD2OS	-	NULL		0.522	FANCD2OS-002	KNOWN	basic|appris_principal|CCDS	protein_coding	FANCD2OS	HGNC	protein_coding	OTTHUMT00000339891.2	C	NM_173472		10146175	-1	no_errors	ENST00000450660	ensembl	human	known	70_37	missense	SNP	1.000	T
FANCF	2188	genome.wustl.edu	37	11	22647304	22647304	+	Missense_Mutation	SNP	G	G	A			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr11:22647304G>A	ENST00000327470.3	-	1	83	c.53C>T	c.(52-54)tCa>tTa	p.S18L	AC103801.2_ENST00000428556.2_3'UTR	NM_022725.3	NP_073562.1	Q9NPI8	FANCF_HUMAN	Fanconi anemia, complementation group F	18					DNA repair (GO:0006281)|ovarian follicle development (GO:0001541)|spermatogenesis (GO:0007283)	Fanconi anaemia nuclear complex (GO:0043240)|nucleoplasm (GO:0005654)	ubiquitin-protein transferase activity (GO:0004842)			kidney(3)|large_intestine(3)|lung(6)|skin(1)	13						GGTAGTGCTTGAGACCGCCAG	0.637			"""N, F"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																														yes	Rec		Fanconi anaemia F	11	11p15	2188	"""Fanconi anemia, complementation group F"""		L	0													47.0	48.0	48.0					11																	22647304		2203	4300	6503	SO:0001583	missense	2188	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)		CCDS7857.1	11p15	2014-09-17				ENSG00000183161		"""Fanconi anemia, complementation groups"""	3587	protein-coding gene	gene with protein product		613897				9382107	Standard	NM_022725		Approved	FAF	uc001mql.1	Q9NPI8		ENST00000327470.3:c.53C>T	11.37:g.22647304G>A	ENSP00000330875:p.Ser18Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	Q52LM0	Missense_Mutation	SNP	NULL	p.S18L	ENST00000327470.3	37	c.53	CCDS7857.1	11	.	.	.	.	.	.	.	.	.	.	G	18.20	3.571051	0.65765	.	.	ENSG00000183161	ENST00000327470	T	0.39406	1.08	5.39	5.39	0.77823	.	0.138862	0.49305	D	0.000158	T	0.61937	0.2387	L	0.59436	1.845	0.80722	D	1	D	0.89917	1.0	D	0.72982	0.979	T	0.62992	-0.6736	10	0.87932	D	0	-7.4122	17.509	0.87755	0.0:0.0:1.0:0.0	.	18	Q9NPI8	FANCF_HUMAN	L	18	ENSP00000330875:S18L	ENSP00000330875:S18L	S	-	2	0	FANCF	22603880	0.981000	0.34729	0.048000	0.18961	0.004000	0.04260	5.635000	0.67841	2.808000	0.96608	0.655000	0.94253	TCA	FANCF	-	NULL		0.637	FANCF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FANCF	HGNC	protein_coding	OTTHUMT00000387712.2	G	NM_022725		22647304	-1	no_errors	ENST00000327470	ensembl	human	known	70_37	missense	SNP	0.804	A
FARP2	9855	genome.wustl.edu	37	2	242350463	242350463	+	Silent	SNP	G	G	A			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr2:242350463G>A	ENST00000264042.3	+	6	596	c.426G>A	c.(424-426)ttG>ttA	p.L142L	FARP2_ENST00000373287.4_Silent_p.L142L|FARP2_ENST00000545004.1_Silent_p.L142L	NM_014808.2	NP_055623.1	O94887	FARP2_HUMAN	FERM, RhoGEF and pleckstrin domain protein 2	142	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				actin cytoskeleton reorganization (GO:0031532)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|neuron remodeling (GO:0016322)|osteoclast differentiation (GO:0030316)|podosome assembly (GO:0071800)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of Rho GTPase activity (GO:0032321)|Rac protein signal transduction (GO:0016601)|regulation of integrin activation (GO:0033623)|regulation of Rac GTPase activity (GO:0032314)|semaphorin-plexin signaling pathway (GO:0071526)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extrinsic component of membrane (GO:0019898)	Rac guanyl-nucleotide exchange factor activity (GO:0030676)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	43		all_cancers(19;4.88e-34)|all_epithelial(40;4.81e-14)|Breast(86;0.000141)|Renal(207;0.0143)|all_lung(227;0.0344)|Lung NSC(271;0.0886)|Ovarian(221;0.0905)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;1.81e-33)|all cancers(36;1.61e-30)|OV - Ovarian serous cystadenocarcinoma(60;6.83e-15)|Kidney(56;1.19e-08)|KIRC - Kidney renal clear cell carcinoma(57;8.98e-08)|BRCA - Breast invasive adenocarcinoma(100;1.49e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00125)|Colorectal(34;0.0199)|COAD - Colon adenocarcinoma(134;0.121)		TGTTTGCCTTGCAACTTAAGA	0.473																																																	0													109.0	95.0	99.0					2																	242350463		2203	4300	6503	SO:0001819	synonymous_variant	9855			AB018336	CCDS33424.1, CCDS63197.1	2q37.3	2013-01-10			ENSG00000006607	ENSG00000006607		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	16460	protein-coding gene	gene with protein product						9872452, 12351724	Standard	NM_001282984		Approved	KIAA0793, FIR, PLEKHC3, FRG	uc002wbi.2	O94887	OTTHUMG00000151574	ENST00000264042.3:c.426G>A	2.37:g.242350463G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	B7Z6J8|F5GZ84|Q53QM5|Q8WU27|Q9UFE7	Silent	SNP	pfam_DH-domain,pfam_Pleckstrin_homology,pfam_FERM_PH-like_C,pfam_FERM_N,pfam_FERM_central,pfam_FERM-adjacent,superfamily_DH-domain,superfamily_FERM_central,smart_Band_41_domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_FERM_domain,pfscan_Pleckstrin_homology,pfscan_DH-domain,prints_Band_41_fam,prints_Ez/rad/moesin	p.L142	ENST00000264042.3	37	c.426	CCDS33424.1	2																																																																																			FARP2	-	pfam_FERM_central,superfamily_FERM_central,smart_Band_41_domain,pfscan_FERM_domain,prints_Band_41_fam		0.473	FARP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FARP2	HGNC	protein_coding	OTTHUMT00000323153.1	G			242350463	+1	no_errors	ENST00000264042	ensembl	human	known	70_37	silent	SNP	1.000	A
FAT3	120114	genome.wustl.edu	37	11	92085607	92085607	+	Missense_Mutation	SNP	A	A	C			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr11:92085607A>C	ENST00000298047.6	+	1	346	c.329A>C	c.(328-330)aAa>aCa	p.K110T	FAT3_ENST00000541502.1_Missense_Mutation_p.K110T|FAT3_ENST00000409404.2_Missense_Mutation_p.K110T|FAT3_ENST00000525166.1_5'Flank			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	110	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				ATAAGAACTAAAGGTGGCAAT	0.378										TCGA Ovarian(4;0.039)																																							0													58.0	57.0	58.0					11																	92085607		1816	4087	5903	SO:0001583	missense	120114			AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"""Cadherins / Cadherin-related"""	23112	protein-coding gene	gene with protein product	"""cadherin-related family member 10"""	612483	"""FAT tumor suppressor homolog 3 (Drosophila)"""			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.329A>C	11.37:g.92085607A>C	ENSP00000298047:p.Lys110Thr	Somatic		WXS	Illumina HiSeq	Phase_IV	B5MDB0|Q96AU6	Missense_Mutation	SNP	pfam_Cadherin,pfam_Laminin_G,pfam_EGF-like_Ca-bd,superfamily_ConA-like_lec_gl_sf,superfamily_Cadherin-like,smart_Cadherin,smart_EG-like_dom,smart_Laminin_G,smart_EGF-like_Ca-bd,pfscan_EG-like_dom,pfscan_Laminin_G,pfscan_Cadherin,prints_Cadherin	p.K110T	ENST00000298047.6	37	c.329		11	.	.	.	.	.	.	.	.	.	.	A	21.3	4.121078	0.77436	.	.	ENSG00000165323	ENST00000298047;ENST00000409404;ENST00000541502	T;T;T	0.60040	0.22;0.22;0.22	5.53	5.53	0.82687	.	.	.	.	.	T	0.65471	0.2694	L	0.55103	1.725	0.46954	D	0.999268	D	0.57899	0.981	P	0.56278	0.795	T	0.61705	-0.7008	9	0.24483	T	0.36	.	15.1314	0.72527	1.0:0.0:0.0:0.0	.	110	Q8TDW7-3	.	T	110	ENSP00000298047:K110T;ENSP00000387040:K110T;ENSP00000443786:K110T	ENSP00000298047:K110T	K	+	2	0	FAT3	91725255	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.210000	0.95106	2.225000	0.72522	0.533000	0.62120	AAA	FAT3	-	superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.378	FAT3-201	KNOWN	basic	protein_coding	FAT3	HGNC	protein_coding		A	NM_001008781		92085607	+1	no_errors	ENST00000298047	ensembl	human	known	70_37	missense	SNP	1.000	C
FAXC	84553	genome.wustl.edu	37	6	99771499	99771499	+	Missense_Mutation	SNP	C	C	A			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr6:99771499C>A	ENST00000389677.5	-	4	926	c.644G>T	c.(643-645)cGg>cTg	p.R215L	FAXC_ENST00000538471.1_Intron	NM_032511.2	NP_115900.1	Q5TGI0	FAXC_HUMAN	failed axon connections homolog (Drosophila)	215						integral component of membrane (GO:0016021)											GAGCATCTTCCGGGTCTCATT	0.493																																																	0													115.0	93.0	100.0					6																	99771499		2203	4300	6503	SO:0001583	missense	84553			BC011583	CCDS34500.1	6q16.3	2012-02-07	2012-02-07	2012-02-07	ENSG00000146267	ENSG00000146267			20742	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 168"""	C6orf168		12477932	Standard	NM_032511		Approved	MGC2817, dJ273F20	uc003ppj.4	Q5TGI0	OTTHUMG00000015261	ENST00000389677.5:c.644G>T	6.37:g.99771499C>A	ENSP00000374328:p.Arg215Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	B3KU39|Q96F61|Q96LU3|Q9BR58|Q9BSS2	Missense_Mutation	SNP	superfamily_Thioredoxin-like_fold,superfamily_Glutathione-S-Trfase_C-like	p.R215L	ENST00000389677.5	37	c.644	CCDS34500.1	6	.	.	.	.	.	.	.	.	.	.	C	11.46	1.645012	0.29246	.	.	ENSG00000146267	ENST00000389677	.	.	.	5.74	4.77	0.60923	.	0.062092	0.64402	D	0.000003	T	0.10809	0.0264	N	0.11064	0.09	0.80722	D	1	B	0.02656	0.0	B	0.06405	0.002	T	0.34329	-0.9833	9	0.07813	T	0.8	-5.805	3.7704	0.08639	0.0:0.6675:0.0:0.3325	.	215	Q5TGI0	CF168_HUMAN	L	215	.	ENSP00000374328:R215L	R	-	2	0	C6orf168	99878220	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.620000	0.61226	2.714000	0.92807	0.650000	0.86243	CGG	FAXC	-	NULL		0.493	FAXC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAXC	HGNC	protein_coding	OTTHUMT00000041589.4	C	NM_032511		99771499	-1	no_errors	ENST00000389677	ensembl	human	known	70_37	missense	SNP	1.000	A
FBXL19	54620	genome.wustl.edu	37	16	30934042	30934042	+	5'Flank	SNP	C	C	T			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr16:30934042C>T	ENST00000380310.2	+	0	0				FBXL19_ENST00000562319.1_5'Flank|FBXL19-AS1_ENST00000563777.1_RNA|FBXL19_ENST00000565690.1_5'Flank|FBXL19_ENST00000338343.4_5'Flank|FBXL19_ENST00000471231.2_5'Flank	NM_001099784.2	NP_001093254.2	Q6PCT2	FXL19_HUMAN	F-box and leucine-rich repeat protein 19						proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)	SCF ubiquitin ligase complex (GO:0019005)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(2)|endometrium(3)|lung(5)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	16						ATGTCGCAGTCGCCCCGGCCC	0.627																																																	0																																										SO:0001631	upstream_gene_variant	283932			AK127701	CCDS45465.1, CCDS73873.1	16p11.2	2014-02-20			ENSG00000099364	ENSG00000099364		"""F-boxes / Leucine-rich repeats"""	25300	protein-coding gene	gene with protein product	"""jumonji C domain-containing histone demethylase 1C"""	609085					Standard	NM_001099784		Approved	DKFZp434K0410, Fbl19, JHDM1C, CXXC11	uc002eab.2	Q6PCT2	OTTHUMG00000132403		16.37:g.30934042C>T	Exception_encountered	Somatic		WXS	Illumina HiSeq	Phase_IV	A8MT10|Q8N789|Q9NT14	RNA	SNP	-	NULL	ENST00000380310.2	37	NULL	CCDS45465.1	16																																																																																			FBXL19-AS1	-	-		0.627	FBXL19-201	KNOWN	basic|appris_principal|CCDS	protein_coding	FBXL19-AS1	HGNC	protein_coding		C	NM_019085		30934042	-1	no_errors	ENST00000563777	ensembl	human	known	70_37	rna	SNP	0.000	T
FBXO11	80204	genome.wustl.edu	37	2	48036826	48036826	+	Missense_Mutation	SNP	C	C	T			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr2:48036826C>T	ENST00000403359.3	-	20	2431	c.2359G>A	c.(2359-2361)Gca>Aca	p.A787T	FBXO11_ENST00000402508.1_Missense_Mutation_p.A703T|FBXO11_ENST00000434523.2_Missense_Mutation_p.A211T|FBXO11_ENST00000316377.4_Missense_Mutation_p.A703T|MSH6_ENST00000234420.5_3'UTR|FBXO11_ENST00000405808.1_5'Flank	NM_001190274.1	NP_001177203.1	Q86XK2	FBX11_HUMAN	F-box protein 11	787					cellular protein modification process (GO:0006464)|peptidyl-arginine N-methylation (GO:0035246)|protein ubiquitination (GO:0016567)|sensory perception of sound (GO:0007605)|ubiquitin-dependent protein catabolic process (GO:0006511)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	protein-arginine N-methyltransferase activity (GO:0016274)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.0?(2)|p.A703T(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	26		Acute lymphoblastic leukemia(82;0.0299)|all_hematologic(82;0.0358)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			GTTGCAGTTGCGTGATTTGTA	0.333			"""Mis, F, D"""		DLBCL																																			Rec	yes		2	2p16.3	80204	F-box protein 11		L	3	Whole gene deletion(2)|Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)											98.0	94.0	95.0					2																	48036826		2202	4300	6502	SO:0001583	missense	80204			AF174599	CCDS1837.1, CCDS54357.1	2p16.3	2014-01-29	2008-06-23	2008-06-23	ENSG00000138081	ENSG00000138081		"""Ubiquitin protein ligase E3 component n-recognins"", ""F-boxes /  ""other"""""	13590	protein-coding gene	gene with protein product	"""ubiquitin protein ligase E3 component n-recognin 6"""	607871	"""F-box only protein 11"""			10531035, 16487488, 18162545	Standard	NM_025133		Approved	FBX11, UBR6	uc002rwe.3	Q86XK2	OTTHUMG00000129130	ENST00000403359.3:c.2359G>A	2.37:g.48036826C>T	ENSP00000384823:p.Ala787Thr	Somatic		WXS	Illumina HiSeq	Phase_IV	A1L491|Q52ZP1|Q53EP7|Q53RT5|Q8IXG3|Q96E90|Q9H6V8|Q9H9L1|Q9NR14|Q9UFK1|Q9UHI1|Q9UKC2	Missense_Mutation	SNP	pfam_Znf_N-recognin,pfam_F-box_dom_cyclin-like,superfamily_Pectin_lyase_fold/virulence,superfamily_F-box_dom_cyclin-like,smart_F-box_dom_cyclin-like,smart_PbH1,smart_Carb-bd_sugar_hydrolysis-dom,smart_Znf_N-recognin_met,pfscan_F-box_dom_cyclin-like,pfscan_Znf_N-recognin,tigrfam_Para_beta_helix_rpt-2	p.A787T	ENST00000403359.3	37	c.2359	CCDS54357.1	2	.	.	.	.	.	.	.	.	.	.	C	36	5.613598	0.96637	.	.	ENSG00000138081	ENST00000402508;ENST00000403359;ENST00000316377;ENST00000434523	T;T;T;T	0.80393	-1.37;-1.37;-1.37;-1.37	5.48	5.48	0.80851	.	0.000000	0.85682	D	0.000000	D	0.88625	0.6487	M	0.81497	2.545	0.80722	D	1	D	0.57571	0.98	P	0.56434	0.798	D	0.88953	0.3388	10	0.54805	T	0.06	-11.272	19.7088	0.96084	0.0:1.0:0.0:0.0	.	211	B3KUR1	.	T	703;787;703;211	ENSP00000385398:A703T;ENSP00000384823:A787T;ENSP00000323822:A703T;ENSP00000397359:A211T	ENSP00000323822:A703T	A	-	1	0	FBXO11	47890330	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.747000	0.85070	2.722000	0.93159	0.561000	0.74099	GCA	FBXO11	-	superfamily_Pectin_lyase_fold/virulence,superfamily_F-box_dom_cyclin-like,smart_Carb-bd_sugar_hydrolysis-dom,smart_PbH1		0.333	FBXO11-001	KNOWN	basic|CCDS	protein_coding	FBXO11	HGNC	protein_coding	OTTHUMT00000251181.3	C	NM_012167, NM_018693, NM_025133		48036826	-1	no_errors	ENST00000403359	ensembl	human	known	70_37	missense	SNP	1.000	T
FBXO41	150726	genome.wustl.edu	37	2	73491083	73491083	+	Missense_Mutation	SNP	C	C	A			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr2:73491083C>A	ENST00000521871.1	-	7	2320	c.1905G>T	c.(1903-1905)gaG>gaT	p.E635D	FBXO41_ENST00000295133.5_Missense_Mutation_p.E696D|FBXO41_ENST00000520530.2_Missense_Mutation_p.E635D			Q8TF61	FBX41_HUMAN	F-box protein 41	635										breast(2)|central_nervous_system(1)|endometrium(1)|lung(6)|pancreas(1)|prostate(1)|skin(1)	13						TCCGGGCATACTCCTCCTTGC	0.617																																																	0													29.0	37.0	35.0					2																	73491083		1985	4155	6140	SO:0001583	missense	150726			AB075820	CCDS46337.1, CCDS46337.2	2p13.2	2004-08-24				ENSG00000163013		"""F-boxes /  ""other"""""	29409	protein-coding gene	gene with protein product		609108				11853319	Standard	NM_001080410		Approved	KIAA1940, Fbx41	uc021vjh.1	Q8TF61		ENST00000521871.1:c.1905G>T	2.37:g.73491083C>A	ENSP00000428646:p.Glu635Asp	Somatic		WXS	Illumina HiSeq	Phase_IV	G3V0Z7|Q2M1V8	Missense_Mutation	SNP	superfamily_F-box_dom_cyclin-like	p.E696D	ENST00000521871.1	37	c.2088	CCDS46337.2	2	.	.	.	.	.	.	.	.	.	.	C	11.67	1.708740	0.30322	.	.	ENSG00000163013	ENST00000295133;ENST00000521871	T;T	0.21361	2.01;2.01	5.4	1.6	0.23607	F-box domain, Skp2-like (1);	0.334636	0.35096	N	0.003457	T	0.11537	0.0281	L	0.34521	1.04	0.40869	D	0.983896	B	0.09022	0.002	B	0.09377	0.004	T	0.21109	-1.0255	10	0.09338	T	0.73	-20.1168	6.0013	0.19521	0.0:0.5227:0.2553:0.222	.	635	Q8TF61	FBX41_HUMAN	D	696;635	ENSP00000295133:E696D;ENSP00000428646:E635D	ENSP00000295133:E696D	E	-	3	2	FBXO41	73344591	0.985000	0.35326	0.998000	0.56505	0.995000	0.86356	0.241000	0.18065	0.120000	0.18254	0.561000	0.74099	GAG	FBXO41	-	superfamily_F-box_dom_cyclin-like		0.617	FBXO41-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	FBXO41	HGNC	protein_coding	OTTHUMT00000377381.1	C			73491083	-1	no_errors	ENST00000295133	ensembl	human	known	70_37	missense	SNP	0.997	A
FBXW8	26259	genome.wustl.edu	37	12	117426499	117426499	+	Missense_Mutation	SNP	G	G	C			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr12:117426499G>C	ENST00000309909.5	+	7	1146	c.1064G>C	c.(1063-1065)aGa>aCa	p.R355T	FBXW8_ENST00000455858.2_Missense_Mutation_p.R289T|RP11-231I16.1_ENST00000548738.1_RNA			Q8N3Y1	FBXW8_HUMAN	F-box and WD repeat domain containing 8	355					cell proliferation (GO:0008283)|Golgi organization (GO:0007030)|labyrinthine layer blood vessel development (GO:0060716)|positive regulation of dendrite morphogenesis (GO:0050775)|protein ubiquitination (GO:0016567)|spongiotrophoblast layer development (GO:0060712)	Cul7-RING ubiquitin ligase complex (GO:0031467)|Golgi apparatus (GO:0005794)|perinuclear region of cytoplasm (GO:0048471)|SCF ubiquitin ligase complex (GO:0019005)				endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|pancreas(1)|skin(1)|stomach(1)	22	all_neural(191;0.117)|Medulloblastoma(191;0.163)			BRCA - Breast invasive adenocarcinoma(302;0.0353)		CCAGAAACCAGAAGGTACCCT	0.483																																																	0													126.0	138.0	134.0					12																	117426499		2203	4300	6503	SO:0001583	missense	26259			AF176707	CCDS9182.1, CCDS44988.1	12q24.23	2013-01-09	2007-02-08	2003-06-13				"""F-boxes / WD-40 domains"", ""WD repeat domain containing"""	13597	protein-coding gene	gene with protein product		609073	"""F-box only protein 29"", ""F-box and WD-40 domain protein 8"""	FBXO29		10531035, 10531037	Standard	NM_012174		Approved	FBX29, FBW6, FBW8	uc001twg.1	Q8N3Y1	OTTHUMG00000169329	ENST00000309909.5:c.1064G>C	12.37:g.117426499G>C	ENSP00000310686:p.Arg355Thr	Somatic		WXS	Illumina HiSeq	Phase_IV	Q9UK95	Missense_Mutation	SNP	pfam_WD40_repeat,pfam_F-box_dom_cyclin-like,superfamily_Quinonprotein_ADH-like,superfamily_F-box_dom_cyclin-like,smart_F-box_dom_cyclin-like,smart_WD40_repeat,pfscan_F-box_dom_cyclin-like,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.R355T	ENST00000309909.5	37	c.1064	CCDS9182.1	12	.	.	.	.	.	.	.	.	.	.	G	6.678	0.493705	0.12702	.	.	ENSG00000174989	ENST00000309909;ENST00000455858;ENST00000505227	T;T	0.08282	3.12;3.11	5.9	4.1	0.47936	WD40/YVTN repeat-like-containing domain (1);Quinonprotein alcohol dehydrogenase-like (1);	0.404780	0.26586	N	0.023553	T	0.04092	0.0114	N	0.14661	0.345	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.06405	0.002;0.002	T	0.44605	-0.9317	10	0.13470	T	0.59	-3.8763	5.4128	0.16358	0.1299:0.1138:0.6389:0.1174	.	355;289	Q8N3Y1;Q8N3Y1-2	FBXW8_HUMAN;.	T	355;289;289	ENSP00000310686:R355T;ENSP00000389144:R289T	ENSP00000310686:R355T	R	+	2	0	FBXW8	115910882	0.002000	0.14202	0.704000	0.30370	0.424000	0.31475	0.141000	0.16076	0.853000	0.35312	0.655000	0.94253	AGA	FBXW8	-	superfamily_Quinonprotein_ADH-like		0.483	FBXW8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	FBXW8	HGNC	protein_coding	OTTHUMT00000403561.1	G	NM_012174		117426499	+1	no_errors	ENST00000309909	ensembl	human	known	70_37	missense	SNP	0.240	C
FCGBP	8857	genome.wustl.edu	37	19	40362851	40362851	+	Silent	SNP	G	G	A			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr19:40362851G>A	ENST00000221347.6	-	32	15226	c.15219C>T	c.(15217-15219)ttC>ttT	p.F5073F		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	5073						extracellular vesicular exosome (GO:0070062)				NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			CGCATTGGCGGAAGTACTCAG	0.657																																																	0													94.0	99.0	97.0					19																	40362851		2203	4300	6503	SO:0001819	synonymous_variant	8857			D84239		19q13.2	2013-09-20			ENSG00000090920	ENSG00000275395			13572	protein-coding gene	gene with protein product	"""IgG Fc binding protein"", ""Human Fc gamma BP"""					9182547	Standard	NM_003890		Approved	FC(GAMMA)BP	uc002omp.4	Q9Y6R7	OTTHUMG00000182580	ENST00000221347.6:c.15219C>T	19.37:g.40362851G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	O95784	Silent	SNP	pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,smart_Fol_N,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_EG-like_dom,smart_VWF_C,smart_VWC_out	p.F5073	ENST00000221347.6	37	c.15219	CCDS12546.1	19																																																																																			FCGBP	-	pfam_Unchr_dom_Cys-rich,smart_Unchr_dom_Cys-rich		0.657	FCGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FCGBP	HGNC	protein_coding	OTTHUMT00000462507.1	G	NM_003890		40362851	-1	no_errors	ENST00000221347	ensembl	human	known	70_37	silent	SNP	1.000	A
FCRL4	83417	genome.wustl.edu	37	1	157559012	157559012	+	Missense_Mutation	SNP	G	G	A	rs138448208		TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr1:157559012G>A	ENST00000271532.1	-	3	424	c.289C>T	c.(289-291)Cgc>Tgc	p.R97C	FCRL4_ENST00000448509.2_5'UTR	NM_031282.2	NP_112572.1	Q96PJ5	FCRL4_HUMAN	Fc receptor-like 4	97	Ig-like C2-type 1.				immune system process (GO:0002376)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(2)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(20)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	40	all_hematologic(112;0.0378)|Hepatocellular(266;0.178)	Prostate(1639;0.245)				AAGAGCAAGCGCACAGGGTTA	0.502																																																	0								G	CYS/ARG	1,4405	2.1+/-5.4	0,1,2202	67.0	73.0	71.0		289	-8.4	0.0	1	dbSNP_134	71	1,8599	1.2+/-3.3	0,1,4299	no	missense	FCRL4	NM_031282.2	180	0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154	possibly-damaging	97/516	157559012	2,13004	2203	4300	6503	SO:0001583	missense	83417			AF343661	CCDS1166.1	1q21	2013-01-14			ENSG00000163518	ENSG00000163518		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	18507	protein-coding gene	gene with protein product		605876				11290337, 11493702	Standard	NM_031282		Approved	FCRH4, IRTA1, IGFP2, CD307d	uc001fqw.3	Q96PJ5	OTTHUMG00000035488	ENST00000271532.1:c.289C>T	1.37:g.157559012G>A	ENSP00000271532:p.Arg97Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q96PJ3|Q96RE0	Missense_Mutation	SNP	pfam_Immunoglobulin,pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.R97C	ENST00000271532.1	37	c.289	CCDS1166.1	1	.	.	.	.	.	.	.	.	.	.	G	10.70	1.424917	0.25639	2.27E-4	1.16E-4	ENSG00000163518	ENST00000271532	T	0.13778	2.56	4.2	-8.41	0.00961	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	5.085590	0.00616	N	0.000432	T	0.10809	0.0264	M	0.79614	2.46	0.09310	N	1	P	0.41643	0.758	P	0.51453	0.67	T	0.32719	-0.9896	10	0.56958	D	0.05	.	5.6523	0.17622	0.3936:0.0:0.1332:0.4732	.	97	Q96PJ5	FCRL4_HUMAN	C	97	ENSP00000271532:R97C	ENSP00000271532:R97C	R	-	1	0	FCRL4	155825636	0.000000	0.05858	0.000000	0.03702	0.104000	0.19210	-3.423000	0.00476	-2.214000	0.00734	0.557000	0.71058	CGC	FCRL4	-	smart_Ig_sub,pfscan_Ig-like		0.502	FCRL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FCRL4	HGNC	protein_coding	OTTHUMT00000086180.1	G	NM_031282		157559012	-1	no_errors	ENST00000271532	ensembl	human	known	70_37	missense	SNP	0.000	A
FCRL1	115350	genome.wustl.edu	37	1	157769850	157769850	+	Silent	SNP	G	G	T			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr1:157769850G>T	ENST00000368176.3	-	7	1096	c.1029C>A	c.(1027-1029)ctC>ctA	p.L343L	FCRL1_ENST00000489998.1_5'UTR|FCRL1_ENST00000491942.1_Silent_p.L343L|FCRL1_ENST00000358292.3_Silent_p.L304L	NM_001159398.1|NM_052938.4	NP_001152870.1|NP_443170.1	Q96LA6	FCRL1_HUMAN	Fc receptor-like 1	343						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(24)|ovary(4)|prostate(1)|skin(6)	42	all_hematologic(112;0.0378)		LUSC - Lung squamous cell carcinoma(543;0.24)			GGCCTCACCTGAGTGGATCCC	0.388																																					GBM(54;482 1003 11223 30131 35730)												0													96.0	87.0	90.0					1																	157769850		2203	4300	6503	SO:0001819	synonymous_variant	115350			BC033690	CCDS1170.1, CCDS53382.1, CCDS53383.1	1q21-q22	2013-01-14			ENSG00000163534	ENSG00000163534		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	18509	protein-coding gene	gene with protein product		606508				11493702, 11929751	Standard	NM_052938		Approved	FCRH1, IRTA5, IFGP1, CD307a	uc001frg.3	Q96LA6	OTTHUMG00000019398	ENST00000368176.3:c.1029C>A	1.37:g.157769850G>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B2RE05|Q8N759|Q8NDI0|Q96PJ6	Silent	SNP	pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.L343	ENST00000368176.3	37	c.1029	CCDS1170.1	1																																																																																			FCRL1	-	NULL		0.388	FCRL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FCRL1	HGNC	protein_coding	OTTHUMT00000051401.1	G	NM_052938		157769850	-1	no_errors	ENST00000368176	ensembl	human	known	70_37	silent	SNP	0.973	T
FCRLA	84824	genome.wustl.edu	37	1	161680414	161680415	+	3'UTR	DEL	AA	AA	-	rs77972815|rs112039702	byFrequency	TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	AA	AA					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr1:161680414_161680415delAA	ENST00000470841.1	+	0	336_337				FCRLA_ENST00000367953.3_Intron|FCRLA_ENST00000350710.3_Intron|FCRLA_ENST00000540926.1_Intron|FCRLA_ENST00000349527.4_Intron|FCRLA_ENST00000309691.6_Intron|FCRLA_ENST00000367957.2_Intron|FCRLA_ENST00000367959.2_Intron|FCRLA_ENST00000367949.2_Intron|FCRLA_ENST00000367950.1_Intron|FCRLA_ENST00000294796.4_Intron|FCRLA_ENST00000236938.6_Intron|FCRLA_ENST00000540521.1_Intron|FCRLA_ENST00000546024.1_Intron			Q7L513	FCRLA_HUMAN	Fc receptor-like A						cell differentiation (GO:0030154)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)				breast(1)|kidney(12)|large_intestine(4)|lung(13)|prostate(1)|skin(2)|stomach(1)	34	all_cancers(52;2.55e-15)|all_hematologic(112;0.0359)		BRCA - Breast invasive adenocarcinoma(70;0.00301)			GGTCTTTCCGAAAAAAAAAAAG	0.45																																																	0																																										SO:0001624	3_prime_UTR_variant	84824			AF531423	CCDS30926.1, CCDS53415.1, CCDS53416.1, CCDS53417.1, CCDS53418.1, CCDS53419.1, CCDS53420.1	1q23.3	2014-01-28	2006-09-26	2006-09-26	ENSG00000132185	ENSG00000132185		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	18504	protein-coding gene	gene with protein product		606891	"""Fc receptor-like and mucin-like 1"""	FCRLM1		11754007	Standard	NM_001184866		Approved	MGC4595, FCRLc2, FCRLb, FCRLc1, FCRLd, FCRLe, FCRL, FCRLa, FREB, FCRLX	uc001gbe.3	Q7L513	OTTHUMG00000034537	ENST00000470841.1:c.*334AA>-	1.37:g.161680422_161680423delAA		Somatic		WXS	Illumina HiSeq	Phase_IV	A0N0M1|A6NC03|A6NL20|F5H720|F8W743|G3V1J2|Q5VXA1|Q5VXA2|Q5VXA3|Q5VXA4|Q5VXB0|Q5VXB1|Q8NEW4|Q8WXH3|Q96PC6|Q96PJ0|Q96PJ1|Q96PJ2|Q96PJ4|Q9BR57	RNA	DEL	-	NULL	ENST00000470841.1	37	NULL		1																																																																																			FCRLA	-	-		0.450	FCRLA-009	KNOWN	basic	processed_transcript	FCRLA	HGNC	protein_coding	OTTHUMT00000083582.1	AA	NM_032738		161680415	+1	no_errors	ENST00000470841	ensembl	human	known	70_37	rna	DEL	0.001:0.000	-
FEZF1	389549	genome.wustl.edu	37	7	121943727	121943727	+	Silent	SNP	G	G	T			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr7:121943727G>T	ENST00000442488.2	-	1	832	c.765C>A	c.(763-765)gcC>gcA	p.A255A	FEZF1-AS1_ENST00000428449.1_RNA|FEZF1_ENST00000427185.2_Silent_p.A205A|FEZF1_ENST00000331178.4_Silent_p.A255A|FEZF1-AS1_ENST00000437317.1_RNA	NM_001024613.2|NM_001160264.1	NP_001019784.2|NP_001153736.1	A0PJY2	FEZF1_HUMAN	FEZ family zinc finger 1	255					axon guidance (GO:0007411)|forebrain anterior/posterior pattern specification (GO:0021797)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|olfactory bulb development (GO:0021772)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)			breast(1)|large_intestine(3)|lung(18)|ovary(2)|prostate(1)	25						CTTTGGGCTTGGCATTAGGAG	0.507																																																	0													125.0	136.0	132.0					7																	121943727		2203	4300	6503	SO:0001819	synonymous_variant	389549			AY726588	CCDS34741.1, CCDS34741.2, CCDS55157.1	7q31.32	2013-01-08	2006-08-15	2006-08-15	ENSG00000128610	ENSG00000128610		"""Zinc fingers, C2H2-type"""	22788	protein-coding gene	gene with protein product		613301	"""zinc finger protein 312B"""	ZNF312B			Standard	NM_001024613		Approved		uc003vkd.3	A0PJY2	OTTHUMG00000157091	ENST00000442488.2:c.765C>A	7.37:g.121943727G>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A0PJY3|A4D0W3|B4DUP9|B7ZM98	Silent	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.A255	ENST00000442488.2	37	c.765	CCDS34741.2	7																																																																																			FEZF1	-	NULL		0.507	FEZF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FEZF1	HGNC	protein_coding	OTTHUMT00000347410.1	G	NM_001024613		121943727	-1	no_errors	ENST00000442488	ensembl	human	known	70_37	silent	SNP	0.992	T
FFAR2	2867	genome.wustl.edu	37	19	35940660	35940660	+	Missense_Mutation	SNP	T	T	G			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr19:35940660T>G	ENST00000599180.2	+	2	124	c.44T>G	c.(43-45)aTc>aGc	p.I15S	FFAR2_ENST00000601590.1_Intron|FFAR2_ENST00000246549.2_Missense_Mutation_p.I15S			O15552	FFAR2_HUMAN	free fatty acid receptor 2	15					cell surface pattern recognition receptor signaling pathway (GO:0002752)|cellular response to fatty acid (GO:0071398)|fat cell differentiation (GO:0045444)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|leukocyte chemotaxis involved in inflammatory response (GO:0002232)|lipid storage (GO:0019915)|mucosal immune response (GO:0002385)|positive regulation of acute inflammatory response to non-antigenic stimulus (GO:0002879)|positive regulation of chemokine production (GO:0032722)|positive regulation of cytokine production involved in immune response (GO:0002720)|positive regulation of interleukin-8 secretion (GO:2000484)|regulation of acute inflammatory response (GO:0002673)|regulation of peptide hormone secretion (GO:0090276)	cell projection (GO:0042995)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|lipid binding (GO:0008289)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(6)|skin(1)|urinary_tract(1)	22	all_lung(56;1.89e-08)|Lung NSC(56;2.9e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			ATGGCTTACATCATCATCTTC	0.632																																					GBM(40;139 809 9833 23358 48736)												0													76.0	69.0	71.0					19																	35940660		2203	4300	6503	SO:0001583	missense	2867			AF024690	CCDS12461.1	19q13.1	2012-08-08	2006-02-15	2006-02-15		ENSG00000126262		"""GPCR / Class A : Fatty acid receptors"""	4501	protein-coding gene	gene with protein product		603823	"""G protein-coupled receptor 43"""	GPR43		9344866	Standard	NM_005306		Approved	FFA2R	uc010eea.3	O15552		ENST00000599180.2:c.44T>G	19.37:g.35940660T>G	ENSP00000473159:p.Ile15Ser	Somatic		WXS	Illumina HiSeq	Phase_IV	B0M0J9|Q4VAZ3|Q4VAZ5|Q4VBL5	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_GPR40-rel_recept	p.I15S	ENST00000599180.2	37	c.44	CCDS12461.1	19	.	.	.	.	.	.	.	.	.	.	T	8.908	0.958019	0.18507	.	.	ENSG00000126262	ENST00000246549	T	0.36699	1.24	5.76	3.65	0.41850	.	0.646613	0.15965	N	0.236077	T	0.34221	0.0890	L	0.45285	1.41	0.27456	N	0.9533	P	0.47106	0.89	P	0.47299	0.543	T	0.08351	-1.0726	10	0.25751	T	0.34	-22.2054	9.1445	0.36923	0.0:0.1582:0.0:0.8418	.	15	O15552	FFAR2_HUMAN	S	15	ENSP00000246549:I15S	ENSP00000246549:I15S	I	+	2	0	FFAR2	40632500	0.058000	0.20735	0.066000	0.19879	0.015000	0.08874	2.600000	0.46240	1.117000	0.41842	0.528000	0.53228	ATC	FFAR2	-	prints_GPCR_Rhodpsn		0.632	FFAR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FFAR2	HGNC	protein_coding	OTTHUMT00000466120.3	T	NM_005306		35940660	+1	no_errors	ENST00000246549	ensembl	human	known	70_37	missense	SNP	0.556	G
FGFRL1	53834	genome.wustl.edu	37	4	1019054	1019055	+	Frame_Shift_Ins	INS	-	-	CA	rs571486674|rs145808953		TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr4:1019054_1019055insCA	ENST00000398484.2	+	8	2014_2015	c.1434_1435insCA	c.(1435-1437)cacfs	p.H479fs	FGFRL1_ENST00000510644.1_Frame_Shift_Ins_p.H479fs|RP11-460I19.2_ENST00000503095.1_lincRNA|FGFRL1_ENST00000264748.6_Frame_Shift_Ins_p.H479fs|FGFRL1_ENST00000504138.1_Frame_Shift_Ins_p.H479fs			Q8N441	FGRL1_HUMAN	fibroblast growth factor receptor-like 1	479	His-rich.				diaphragm development (GO:0060539)|heart valve morphogenesis (GO:0003179)|negative regulation of cell proliferation (GO:0008285)|skeletal system development (GO:0001501)|ventricular septum morphogenesis (GO:0060412)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	fibroblast growth factor-activated receptor activity (GO:0005007)|heparin binding (GO:0008201)			endometrium(1)|lung(9)|ovary(1)|prostate(1)|skin(1)	13			OV - Ovarian serous cystadenocarcinoma(23;0.0158)			acacagacatccacacacacac	0.584																																																	0																																										SO:0001589	frameshift_variant	53834				CCDS3344.1	4p16	2013-01-11			ENSG00000127418	ENSG00000127418		"""Immunoglobulin superfamily / I-set domain containing"""	3693	protein-coding gene	gene with protein product		605830					Standard	NM_021923		Approved		uc003gcg.3	Q8N441	OTTHUMG00000118998	ENST00000398484.2:c.1453_1454dupCA	4.37:g.1019063_1019064dupCA	ENSP00000381498:p.His479fs	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RAU9|Q6PJN1|Q9BXN7|Q9H4D7	Frame_Shift_Ins	INS	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.T482fs	ENST00000398484.2	37	c.1434_1435	CCDS3344.1	4																																																																																			FGFRL1	-	NULL		0.584	FGFRL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FGFRL1	HGNC	protein_coding	OTTHUMT00000239195.2	-	NM_021923		1019055	+1	no_errors	ENST00000264748	ensembl	human	known	70_37	frame_shift_ins	INS	0.994:1.000	CA
FGFBP2	83888	genome.wustl.edu	37	4	15964094	15964094	+	Missense_Mutation	SNP	A	A	G			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr4:15964094A>G	ENST00000259989.6	-	1	765	c.659T>C	c.(658-660)tTc>tCc	p.F220S	FGFBP2_ENST00000509331.1_Intron	NM_031950.3	NP_114156.1	Q9BYJ0	FGFP2_HUMAN	fibroblast growth factor binding protein 2	220						extracellular region (GO:0005576)				central_nervous_system(1)|lung(5)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	9						CCCTCGGAAGAAGCTGATGAG	0.498																																																	0													54.0	54.0	54.0					4																	15964094		2203	4300	6503	SO:0001583	missense	83888			AB021123	CCDS3419.1	4p15.32	2008-07-16			ENSG00000137441	ENSG00000137441			29451	protein-coding gene	gene with protein product	"""killer-specific secretory protein of 37 kDa"""	607713				11342666, 12322897	Standard	NM_031950		Approved	KSP37	uc003gon.3	Q9BYJ0	OTTHUMG00000128513	ENST00000259989.6:c.659T>C	4.37:g.15964094A>G	ENSP00000259989:p.Phe220Ser	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_FGF1-bd	p.F220S	ENST00000259989.6	37	c.659	CCDS3419.1	4	.	.	.	.	.	.	.	.	.	.	A	11.49	1.654568	0.29425	.	.	ENSG00000137441	ENST00000259989	T	0.19105	2.17	2.73	2.73	0.32206	.	0.525610	0.18393	U	0.142584	T	0.18425	0.0442	N	0.19112	0.55	0.25881	N	0.983583	P	0.49559	0.925	P	0.49451	0.611	T	0.04509	-1.0946	10	0.66056	D	0.02	-2.7322	9.2142	0.37337	1.0:0.0:0.0:0.0	.	220	Q9BYJ0	FGFP2_HUMAN	S	220	ENSP00000259989:F220S	ENSP00000259989:F220S	F	-	2	0	FGFBP2	15573192	0.998000	0.40836	0.035000	0.18076	0.179000	0.23085	2.144000	0.42197	0.857000	0.35407	0.533000	0.62120	TTC	FGFBP2	-	pfam_FGF1-bd		0.498	FGFBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FGFBP2	HGNC	protein_coding	OTTHUMT00000250324.1	A	NM_031950		15964094	-1	no_errors	ENST00000259989	ensembl	human	known	70_37	missense	SNP	0.890	G
FGF5	2250	genome.wustl.edu	37	4	81189522	81189522	+	Intron	SNP	A	A	T			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr4:81189522A>T	ENST00000312465.7	+	1	581				FGF5_ENST00000503413.1_3'UTR|FGF5_ENST00000456523.3_Intron	NM_004464.3	NP_004455.2	P12034	FGF5_HUMAN	fibroblast growth factor 5						cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glial cell differentiation (GO:0010001)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|signal transduction involved in regulation of gene expression (GO:0023019)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	fibroblast growth factor receptor binding (GO:0005104)			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	22						TAGCCAGGAGACAGCAGCGCT	0.597																																																	0																																										SO:0001627	intron_variant	2250			M23534	CCDS3586.1, CCDS34021.1	4q21	2014-01-30			ENSG00000138675	ENSG00000138675		"""Endogenous ligands"""	3683	protein-coding gene	gene with protein product		165190				3211147, 2577873	Standard	NM_001291812		Approved		uc003hmd.3	P12034	OTTHUMG00000130288	ENST00000312465.7:c.355+1189A>T	4.37:g.81189522A>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B2R554|O75846|Q3Y8M3|Q8NF90	RNA	SNP	-	NULL	ENST00000312465.7	37	NULL	CCDS34021.1	4																																																																																			FGF5	-	-		0.597	FGF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FGF5	HGNC	protein_coding	OTTHUMT00000252627.2	A			81189522	+1	no_errors	ENST00000503413	ensembl	human	known	70_37	rna	SNP	0.001	T
FHDC1	85462	genome.wustl.edu	37	4	153897850	153897850	+	Missense_Mutation	SNP	G	G	C			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr4:153897850G>C	ENST00000511601.1	+	12	3595	c.3407G>C	c.(3406-3408)aGa>aCa	p.R1136T	FHDC1_ENST00000260008.3_Missense_Mutation_p.R1136T			Q9C0D6	FHDC1_HUMAN	FH2 domain containing 1	1136									ARFIP1/FHDC1(2)	NS(2)|breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|liver(2)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	43	all_hematologic(180;0.093)					ACGCTGGGGAGAATCCTCAAT	0.622																																																	0													15.0	12.0	13.0					4																	153897850		2180	4274	6454	SO:0001583	missense	85462			AB051514	CCDS34081.1	4q31.3	2014-02-12	2007-11-29		ENSG00000137460	ENSG00000137460			29363	protein-coding gene	gene with protein product						15138637	Standard	NM_033393		Approved	KIAA1727	uc003inf.2	Q9C0D6	OTTHUMG00000161452	ENST00000511601.1:c.3407G>C	4.37:g.153897850G>C	ENSP00000427567:p.Arg1136Thr	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_FH2_actin-bd,superfamily_FH2_actin-bd,smart_Actin-bd_FH2/DRF_autoreg	p.R1136T	ENST00000511601.1	37	c.3407	CCDS34081.1	4	.	.	.	.	.	.	.	.	.	.	G	12.89	2.074009	0.36566	.	.	ENSG00000137460	ENST00000511601;ENST00000260008	T;T	0.35236	1.32;1.32	5.54	-2.82	0.05787	.	0.540120	0.18956	N	0.126545	T	0.17066	0.0410	N	0.19112	0.55	0.18873	N	0.999981	P	0.38922	0.651	B	0.27887	0.084	T	0.07597	-1.0764	10	0.72032	D	0.01	.	11.3305	0.49473	0.6304:0.0:0.3696:0.0	.	1136	Q9C0D6	FHDC1_HUMAN	T	1136	ENSP00000427567:R1136T;ENSP00000260008:R1136T	ENSP00000260008:R1136T	R	+	2	0	FHDC1	154117300	0.682000	0.27624	0.000000	0.03702	0.006000	0.05464	1.036000	0.30228	-0.784000	0.04528	-1.099000	0.02127	AGA	FHDC1	-	NULL		0.622	FHDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FHDC1	HGNC	protein_coding	OTTHUMT00000364981.2	G	NM_033393		153897850	+1	no_errors	ENST00000260008	ensembl	human	known	70_37	missense	SNP	0.051	C
FHL3	2275	genome.wustl.edu	37	1	38465035	38465035	+	Missense_Mutation	SNP	C	C	T			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr1:38465035C>T	ENST00000373016.3	-	2	218	c.50G>A	c.(49-51)cGc>cAc	p.R17H	FHL3_ENST00000485803.1_Intron	NM_001243878.1|NM_004468.4	NP_001230807.1|NP_004459.2	Q13643	FHL3_HUMAN	four and a half LIM domains 3	17					actin cytoskeleton organization (GO:0030036)|muscle organ development (GO:0007517)	focal adhesion (GO:0005925)|nucleus (GO:0005634)|stress fiber (GO:0001725)|Z disc (GO:0030018)	zinc ion binding (GO:0008270)			endometrium(1)|kidney(1)|large_intestine(1)|lung(2)	5	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				GATGTACTTGCGTCCATACAG	0.542																																																	0													108.0	95.0	99.0					1																	38465035		2203	4300	6503	SO:0001583	missense	2275			BC011697	CCDS30678.1	1p34.3	2008-02-05			ENSG00000183386	ENSG00000183386			3704	protein-coding gene	gene with protein product		602790				8753811, 10226657	Standard	NM_004468		Approved	SLIM2	uc001cck.3	Q13643	OTTHUMG00000004434	ENST00000373016.3:c.50G>A	1.37:g.38465035C>T	ENSP00000362107:p.Arg17His	Somatic		WXS	Illumina HiSeq	Phase_IV	D3DPT6|Q6I9T0|Q9BVA2	Missense_Mutation	SNP	pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM	p.R17H	ENST00000373016.3	37	c.50	CCDS30678.1	1	.	.	.	.	.	.	.	.	.	.	C	19.47	3.834455	0.71373	.	.	ENSG00000183386	ENST00000373016	D	0.87103	-2.21	5.67	5.67	0.87782	Zinc finger, LIM-type (1);	0.000000	0.85682	D	0.000000	D	0.91012	0.7173	L	0.45352	1.415	0.80722	D	1	D;D	0.76494	0.999;0.999	D;P	0.66979	0.948;0.894	D	0.90202	0.4258	10	0.45353	T	0.12	.	19.7607	0.96316	0.0:1.0:0.0:0.0	.	17;17	Q9P100;Q13643	.;FHL3_HUMAN	H	17	ENSP00000362107:R17H	ENSP00000362107:R17H	R	-	2	0	FHL3	38237622	1.000000	0.71417	1.000000	0.80357	0.932000	0.56968	4.669000	0.61575	2.686000	0.91538	0.561000	0.74099	CGC	FHL3	-	NULL		0.542	FHL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FHL3	HGNC	protein_coding	OTTHUMT00000012958.1	C	NM_004468		38465035	-1	no_errors	ENST00000373016	ensembl	human	known	70_37	missense	SNP	1.000	T
FHL5	9457	genome.wustl.edu	37	6	97058570	97058570	+	Missense_Mutation	SNP	C	C	G			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr6:97058570C>G	ENST00000326771.2	+	6	1007	c.627C>G	c.(625-627)ttC>ttG	p.F209L	FHL5_ENST00000541107.1_Missense_Mutation_p.F209L	NM_020482.4	NP_065228.4	Q5TD97	FHL5_HUMAN	four and a half LIM domains 5	209	LIM zinc-binding 3. {ECO:0000255|PROSITE- ProRule:PRU00125}.				positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(2)|large_intestine(4)|lung(17)|ovary(2)|urinary_tract(1)	27		all_cancers(76;1.57e-07)|Acute lymphoblastic leukemia(125;4.93e-10)|all_hematologic(75;3.55e-07)|all_epithelial(107;0.00266)|Colorectal(196;0.0341)|Lung NSC(302;0.204)		BRCA - Breast invasive adenocarcinoma(108;0.0948)		ACTATCCATTCTGCGTGGACT	0.433																																																	0													239.0	220.0	226.0					6																	97058570		2203	4300	6503	SO:0001583	missense	9457			AF278541	CCDS5035.1	6q16.1-q16.3	2008-02-05			ENSG00000112214	ENSG00000112214			17371	protein-coding gene	gene with protein product		605126					Standard	NM_020482		Approved	FLJ33049, ACT, dJ393D12.2	uc003pot.2	Q5TD97	OTTHUMG00000015239	ENST00000326771.2:c.627C>G	6.37:g.97058570C>G	ENSP00000326022:p.Phe209Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RBD1|E1P526|Q5TD98|Q8WW21|Q9NQU2	Missense_Mutation	SNP	pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM	p.F209L	ENST00000326771.2	37	c.627	CCDS5035.1	6	.	.	.	.	.	.	.	.	.	.	C	17.33	3.361817	0.61403	.	.	ENSG00000112214	ENST00000541107;ENST00000326771;ENST00000450218	D;D;D	0.87412	-2.25;-2.25;-1.92	5.88	4.84	0.62591	Zinc finger, LIM-type (4);	0.000000	0.47455	D	0.000223	T	0.76856	0.4046	L	0.38733	1.17	0.37859	D	0.929653	B	0.11235	0.004	B	0.17979	0.02	T	0.75983	-0.3125	10	0.87932	D	0	.	15.9279	0.79635	0.0:0.9248:0.0:0.0752	.	209	Q5TD97	FHL5_HUMAN	L	209	ENSP00000442357:F209L;ENSP00000326022:F209L;ENSP00000396390:F209L	ENSP00000326022:F209L	F	+	3	2	FHL5	97165291	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	2.425000	0.44723	2.792000	0.96026	0.650000	0.86243	TTC	FHL5	-	pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM		0.433	FHL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FHL5	HGNC	protein_coding	OTTHUMT00000041559.1	C	NM_020482		97058570	+1	no_errors	ENST00000326771	ensembl	human	known	70_37	missense	SNP	1.000	G
FIGN	55137	genome.wustl.edu	37	2	164467451	164467451	+	Silent	SNP	G	G	A			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr2:164467451G>A	ENST00000333129.3	-	3	1205	c.891C>T	c.(889-891)ggC>ggT	p.G297G	FIGN_ENST00000409634.1_Intron|FIGN_ENST00000482917.1_5'Flank	NM_018086.2	NP_060556.2	Q5HY92	FIGN_HUMAN	fidgetin	297					mitotic nuclear division (GO:0007067)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|nuclear matrix (GO:0016363)	ATP binding (GO:0005524)			breast(2)|endometrium(3)|kidney(2)|large_intestine(13)|lung(23)|ovary(1)|prostate(2)|skin(1)	47						TCAAACCATGGCCCTGGTAGG	0.572																																																	0													51.0	55.0	54.0					2																	164467451		1990	4156	6146	SO:0001819	synonymous_variant	55137			AK001267	CCDS2221.2	2q24	2010-04-21			ENSG00000182263	ENSG00000182263		"""ATPases / AAA-type"""	13285	protein-coding gene	gene with protein product		605295				11017077	Standard	XM_005246661		Approved		uc002uck.1	Q5HY92	OTTHUMG00000074059	ENST00000333129.3:c.891C>T	2.37:g.164467451G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	B3KWM0|Q9H6M5|Q9NVZ9	Silent	SNP	pfam_ATPase_AAA_core,smart_AAA+_ATPase	p.G297	ENST00000333129.3	37	c.891	CCDS2221.2	2																																																																																			FIGN	-	NULL		0.572	FIGN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FIGN	HGNC	protein_coding	OTTHUMT00000157220.2	G	NM_018086		164467451	-1	no_errors	ENST00000333129	ensembl	human	known	70_37	silent	SNP	0.998	A
FILIP1	27145	genome.wustl.edu	37	6	76022902	76022902	+	Silent	SNP	G	G	A			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr6:76022902G>A	ENST00000237172.7	-	5	2976	c.2646C>T	c.(2644-2646)atC>atT	p.I882I	FILIP1_ENST00000498523.1_5'UTR|FILIP1_ENST00000393004.2_Silent_p.I882I|FILIP1_ENST00000370020.1_Silent_p.I783I	NM_015687.2	NP_056502.1	Q7Z7B0	FLIP1_HUMAN	filamin A interacting protein 1	882										breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)	80						TCTCCTGAGTGATGGAGGGGC	0.522																																																	0													74.0	75.0	75.0					6																	76022902		2203	4300	6503	SO:0001819	synonymous_variant	27145			AB033101	CCDS4984.1, CCDS75480.1	6q14.1	2008-02-05			ENSG00000118407	ENSG00000118407			21015	protein-coding gene	gene with protein product		607307				10574462	Standard	XM_005248713		Approved	FILIP, KIAA1275	uc003pia.3	Q7Z7B0	OTTHUMG00000015056	ENST00000237172.7:c.2646C>T	6.37:g.76022902G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	B2RMU6|Q5VUL6|Q86TC3|Q8N8B9|Q96SK6|Q9NVI8|Q9ULE5	Silent	SNP	pfam_Cortactin-binding_p2_N,prints_Tropomyosin	p.I882	ENST00000237172.7	37	c.2646	CCDS4984.1	6																																																																																			FILIP1	-	NULL		0.522	FILIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FILIP1	HGNC	protein_coding	OTTHUMT00000041263.1	G	XM_029179		76022902	-1	no_errors	ENST00000237172	ensembl	human	known	70_37	silent	SNP	0.000	A
FILIP1	27145	genome.wustl.edu	37	6	76124534	76124534	+	Nonsense_Mutation	SNP	G	G	C			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr6:76124534G>C	ENST00000237172.7	-	2	485	c.155C>G	c.(154-156)tCa>tGa	p.S52*	FILIP1_ENST00000393004.2_Nonsense_Mutation_p.S52*	NM_015687.2	NP_056502.1	Q7Z7B0	FLIP1_HUMAN	filamin A interacting protein 1	52										breast(3)|central_nervous_system(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|liver(1)|lung(28)|ovary(1)|pancreas(1)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)	80						GACAGTTCCTGAGGCCATGAC	0.423																																																	0													252.0	246.0	248.0					6																	76124534		2203	4300	6503	SO:0001587	stop_gained	27145			AB033101	CCDS4984.1, CCDS75480.1	6q14.1	2008-02-05			ENSG00000118407	ENSG00000118407			21015	protein-coding gene	gene with protein product		607307				10574462	Standard	XM_005248713		Approved	FILIP, KIAA1275	uc003pia.3	Q7Z7B0	OTTHUMG00000015056	ENST00000237172.7:c.155C>G	6.37:g.76124534G>C	ENSP00000237172:p.Ser52*	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RMU6|Q5VUL6|Q86TC3|Q8N8B9|Q96SK6|Q9NVI8|Q9ULE5	Nonsense_Mutation	SNP	pfam_Cortactin-binding_p2_N,prints_Tropomyosin	p.S52*	ENST00000237172.7	37	c.155	CCDS4984.1	6	.	.	.	.	.	.	.	.	.	.	G	39	7.829686	0.98513	.	.	ENSG00000118407	ENST00000393004;ENST00000237172	.	.	.	5.55	5.55	0.83447	.	0.194520	0.36444	N	0.002599	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.40728	T	0.16	-10.1271	19.5141	0.95155	0.0:0.0:1.0:0.0	.	.	.	.	X	52	.	ENSP00000237172:S52X	S	-	2	0	FILIP1	76181254	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.220000	0.78008	2.597000	0.87782	0.650000	0.86243	TCA	FILIP1	-	NULL		0.423	FILIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FILIP1	HGNC	protein_coding	OTTHUMT00000041263.1	G	XM_029179		76124534	-1	no_errors	ENST00000237172	ensembl	human	known	70_37	nonsense	SNP	1.000	C
FJX1	24147	genome.wustl.edu	37	11	35642192	35642192	+	3'UTR	SNP	C	C	G			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr11:35642192C>G	ENST00000317811.4	+	0	2458				FJX1_ENST00000532914.1_3'UTR	NM_014344.3	NP_055159.2	Q86VR8	FJX1_HUMAN	four jointed box 1 (Drosophila)						retina layer formation (GO:0010842)	extracellular space (GO:0005615)				lung(1)|urinary_tract(1)	2	all_cancers(35;0.177)|all_lung(20;0.0238)|Lung NSC(22;0.0494)|all_epithelial(35;0.0739)	all_hematologic(20;0.107)				TAATGAATTTCTTCCTCCCTC	0.378																																					Melanoma(161;10 2587 27165 47356)												0																																										SO:0001624	3_prime_UTR_variant	24147			AJ245599	CCDS44570.1	11p13	2012-05-18				ENSG00000179431			17166	protein-coding gene	gene with protein product	"""putative secreted ligand homologous to fjx1"""	612206				7647465, 10072791	Standard	NM_014344		Approved	FLJ22416, FLJ25593	uc001mwh.3	Q86VR8		ENST00000317811.4:c.*694C>G	11.37:g.35642192C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	B2RCA9|Q9UGK6	RNA	SNP	-	NULL	ENST00000317811.4	37	NULL	CCDS44570.1	11																																																																																			FJX1	-	-		0.378	FJX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FJX1	HGNC	protein_coding	OTTHUMT00000389078.1	C	NM_014344		35642192	+1	no_errors	ENST00000532914	ensembl	human	putative	70_37	rna	SNP	0.824	G
FKBP4	2288	genome.wustl.edu	37	12	2907010	2907011	+	Frame_Shift_Ins	INS	-	-	C			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr12:2907010_2907011insC	ENST00000001008.4	+	3	553_554	c.366_367insC	c.(367-369)cccfs	p.P123fs	RP4-816N1.7_ENST00000547042.1_RNA|RP4-816N1.6_ENST00000547834.1_RNA	NM_002014.3	NP_002005.1	Q02790	FKBP4_HUMAN	FK506 binding protein 4, 59kDa	123	PPIase FKBP-type 1. {ECO:0000255|PROSITE- ProRule:PRU00277}.				androgen receptor signaling pathway (GO:0030521)|chaperone-mediated protein folding (GO:0061077)|copper ion transport (GO:0006825)|embryo implantation (GO:0007566)|male sex differentiation (GO:0046661)|negative regulation of microtubule polymerization (GO:0031115)|negative regulation of microtubule polymerization or depolymerization (GO:0031111)|negative regulation of neuron projection development (GO:0010977)|prostate gland development (GO:0030850)|protein complex localization (GO:0031503)|protein folding (GO:0006457)|protein peptidyl-prolyl isomerization (GO:0000413)|steroid hormone receptor complex assembly (GO:0006463)	axonal growth cone (GO:0044295)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	ATP binding (GO:0005524)|FK506 binding (GO:0005528)|GTP binding (GO:0005525)|heat shock protein binding (GO:0031072)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|poly(A) RNA binding (GO:0044822)|protein binding, bridging (GO:0030674)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(2)|skin(1)	14			OV - Ovarian serous cystadenocarcinoma(31;0.00105)			CTCCAAAGATTCCCCCCAATGC	0.554																																																	0																																										SO:0001589	frameshift_variant	2288			M88279	CCDS8512.1	12p13.33	2013-01-10	2002-08-29		ENSG00000004478	ENSG00000004478		"""Tetratricopeptide (TTC) repeat domain containing"""	3720	protein-coding gene	gene with protein product		600611	"""FK506-binding protein 4 (59kD)"""			1279700	Standard	NM_002014		Approved	FKBP59, FKBP52	uc001qkz.3	Q02790	OTTHUMG00000090429	ENST00000001008.4:c.372dupC	12.37:g.2907016_2907016dupC	ENSP00000001008:p.Pro123fs	Somatic		WXS	Illumina HiSeq	Phase_IV	D3DUQ1|Q9UCP1|Q9UCV7	Frame_Shift_Ins	INS	pfam_PPIase_FKBP_dom,pfam_TPR-1,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_PPIase_FKBP_dom	p.N124fs	ENST00000001008.4	37	c.366_367	CCDS8512.1	12																																																																																			FKBP4	-	pfam_PPIase_FKBP_dom,pfscan_PPIase_FKBP_dom		0.554	FKBP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FKBP4	HGNC	protein_coding	OTTHUMT00000206861.1	-			2907011	+1	no_errors	ENST00000001008	ensembl	human	known	70_37	frame_shift_ins	INS	0.968:1.000	C
FKBP8	23770	genome.wustl.edu	37	19	18643565	18643565	+	Missense_Mutation	SNP	G	G	A			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr19:18643565G>A	ENST00000596558.2	-	8	1170	c.1061C>T	c.(1060-1062)gCg>gTg	p.A354V	AC005387.3_ENST00000597837.2_RNA|FKBP8_ENST00000608443.1_Missense_Mutation_p.A355V|AC005387.2_ENST00000596596.1_RNA|FKBP8_ENST00000453489.2_Missense_Mutation_p.A383V|FKBP8_ENST00000222308.4_Missense_Mutation_p.A354V|FKBP8_ENST00000610101.1_Missense_Mutation_p.A195V|FKBP8_ENST00000597960.3_Missense_Mutation_p.A355V			Q14318	FKBP8_HUMAN	FK506 binding protein 8, 38kDa	354					apoptotic process (GO:0006915)|camera-type eye development (GO:0043010)|cell fate specification (GO:0001708)|chaperone-mediated protein folding (GO:0061077)|dorsal/ventral neural tube patterning (GO:0021904)|intracellular signal transduction (GO:0035556)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|positive regulation of BMP signaling pathway (GO:0030513)|protein peptidyl-prolyl isomerization (GO:0000413)|regulation of gene expression (GO:0010468)|smoothened signaling pathway (GO:0007224)|viral process (GO:0016032)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)|mitochondrial envelope (GO:0005740)	FK506 binding (GO:0005528)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)	15						CCGCTGCGCCGCATGCTTCTT	0.632																																																	0													45.0	41.0	42.0					19																	18643565		2203	4300	6503	SO:0001583	missense	23770			L37033	CCDS32961.1	19p12	2013-01-10	2002-08-29		ENSG00000105701	ENSG00000105701		"""Tetratricopeptide (TTC) repeat domain containing"""	3724	protein-coding gene	gene with protein product	"""FK506-binding protein 8 (38kD)"""	604840	"""FK506-binding protein 8 (38kD)"""			7543869	Standard	NM_012181		Approved	FKBP38, FKBPr38	uc002njj.1	Q14318		ENST00000596558.2:c.1061C>T	19.37:g.18643565G>A	ENSP00000472302:p.Ala354Val	Somatic		WXS	Illumina HiSeq	Phase_IV	C8C9T5|Q53GU3|Q7Z349|Q86YK6	Missense_Mutation	SNP	pfam_PPIase_FKBP_dom,pfam_TPR-1,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_PPIase_FKBP_dom	p.A383V	ENST00000596558.2	37	c.1148		19	.	.	.	.	.	.	.	.	.	.	G	15.11	2.735352	0.48939	.	.	ENSG00000105701	ENST00000222308;ENST00000544835;ENST00000453489	T;T;T	0.38887	1.11;1.76;1.37	5.24	5.24	0.73138	.	0.138436	0.49916	D	0.000127	T	0.40645	0.1125	N	0.19112	0.55	0.51012	D	0.999905	D;B;B;B	0.62365	0.991;0.329;0.314;0.236	P;B;B;B	0.50490	0.642;0.045;0.033;0.02	T	0.39461	-0.9613	10	0.59425	D	0.04	-15.9389	17.3975	0.87450	0.0:0.0:1.0:0.0	.	383;298;354;355	B7Z6M0;B2R8G6;Q14318;Q14318-2	.;.;FKBP8_HUMAN;.	V	355;195;383	ENSP00000222308:A355V;ENSP00000441267:A195V;ENSP00000388891:A383V	ENSP00000222308:A355V	A	-	2	0	FKBP8	18504565	1.000000	0.71417	0.438000	0.26821	0.159000	0.22180	6.933000	0.75874	2.447000	0.82792	0.655000	0.94253	GCG	FKBP8	-	NULL		0.632	FKBP8-002	KNOWN	alternative_5_UTR|NAGNAG_splice_site|basic|appris_candidate	protein_coding	FKBP8	HGNC	protein_coding	OTTHUMT00000466374.3	G	NM_012181		18643565	-1	no_errors	ENST00000453489	ensembl	human	known	70_37	missense	SNP	0.995	A
FKRP	79147	genome.wustl.edu	37	19	47259271	47259272	+	Frame_Shift_Ins	INS	-	-	C			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr19:47259271_47259272insC	ENST00000318584.5	+	4	861_862	c.564_565insC	c.(565-567)cccfs	p.P189fs	FKRP_ENST00000600646.1_Intron|FKRP_ENST00000391909.3_Frame_Shift_Ins_p.P189fs	NM_001039885.2|NM_024301.4	NP_001034974.1|NP_077277.1	Q9H9S5	FKRP_HUMAN	fukutin related protein	189					glycoprotein biosynthetic process (GO:0009101)|protein processing (GO:0016485)	dystrophin-associated glycoprotein complex (GO:0016010)|extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|rough endoplasmic reticulum (GO:0005791)|sarcolemma (GO:0042383)	transferase activity (GO:0016740)			NS(1)|large_intestine(1)|lung(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	7		all_epithelial(76;5.08e-05)|Ovarian(192;0.0129)|all_neural(266;0.0459)|Breast(70;0.212)		OV - Ovarian serous cystadenocarcinoma(262;0.000541)|all cancers(93;0.00128)|Epithelial(262;0.0207)|GBM - Glioblastoma multiforme(486;0.0336)		CCCCCGCCGCGCCCCGCTGCGA	0.752																																																	0																																										SO:0001589	frameshift_variant	79147			AJ314847	CCDS12691.1	19q13.32	2014-09-17			ENSG00000181027	ENSG00000181027			17997	protein-coding gene	gene with protein product		606596				11592034, 11741828	Standard	NM_024301		Approved	LGMD2I, MDC1C	uc002pfp.2	Q9H9S5		ENST00000318584.5:c.568dupC	19.37:g.47259275_47259275dupC	ENSP00000326570:p.Pro189fs	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K5G7	Frame_Shift_Ins	INS	pfam_LicD	p.R189fs	ENST00000318584.5	37	c.564_565	CCDS12691.1	19																																																																																			FKRP	-	NULL		0.752	FKRP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FKRP	HGNC	protein_coding	OTTHUMT00000465473.1	-	NM_024301		47259272	+1	no_errors	ENST00000318584	ensembl	human	known	70_37	frame_shift_ins	INS	0.000:0.062	C
FLT4	2324	genome.wustl.edu	37	5	180057000	180057000	+	Missense_Mutation	SNP	C	C	T			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr5:180057000C>T	ENST00000261937.6	-	5	697	c.619G>A	c.(619-621)Gag>Aag	p.E207K	FLT4_ENST00000424276.2_5'UTR|FLT4_ENST00000502649.1_Missense_Mutation_p.E207K|FLT4_ENST00000393347.3_Missense_Mutation_p.E207K	NM_182925.4	NP_891555.2	P35916	VGFR3_HUMAN	fms-related tyrosine kinase 4	207	Ig-like C2-type 2.				blood vessel morphogenesis (GO:0048514)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|lymph vessel development (GO:0001945)|lymphangiogenesis (GO:0001946)|negative regulation of apoptotic process (GO:0043066)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of JNK cascade (GO:0046330)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of protein kinase C signaling (GO:0090037)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation vascular endothelial growth factor production (GO:0010575)|protein autophosphorylation (GO:0046777)|regulation of blood vessel remodeling (GO:0060312)|sprouting angiogenesis (GO:0002040)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|vascular endothelial growth factor signaling pathway (GO:0038084)|vasculature development (GO:0001944)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|protein phosphatase binding (GO:0019903)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor-activated receptor activity (GO:0005021)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|kidney(6)|large_intestine(5)|liver(2)|lung(37)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_cancers(89;2.21e-05)|all_epithelial(37;5.29e-06)|Renal(175;0.000159)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.114)	all_cancers(40;0.00245)|Medulloblastoma(196;0.0133)|all_neural(177;0.0199)|all_hematologic(541;0.163)|Ovarian(839;0.238)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.134)	Axitinib(DB06626)|Pazopanib(DB06589)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	CAGGTGGTCTCGCACTGCAGG	0.642																																					Colon(97;1075 1466 27033 27547 35871)												0													99.0	84.0	89.0					5																	180057000		2201	4297	6498	SO:0001583	missense	2324			X68203	CCDS4457.1, CCDS43412.1	5q34-q35	2013-01-29			ENSG00000037280	ENSG00000037280	2.7.10.1	"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3767	protein-coding gene	gene with protein product		136352				1319394	Standard	NM_002020		Approved	VEGFR3, PCL	uc003mlz.4	P35916	OTTHUMG00000130931	ENST00000261937.6:c.619G>A	5.37:g.180057000C>T	ENSP00000261937:p.Glu207Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K6L4|B5A926|Q16067|Q86W07|Q86W08	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Ig_I-set,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,prints_Tyr_kinase_VEGFR3_rcpt_N,prints_Tyr_kinase_VEGFR_rcpt_N	p.E207K	ENST00000261937.6	37	c.619	CCDS4457.1	5	.	.	.	.	.	.	.	.	.	.	C	15.20	2.763696	0.49574	.	.	ENSG00000037280	ENST00000261937;ENST00000393347;ENST00000502649;ENST00000376868	T;T;T	0.04970	3.52;3.52;3.52	5.16	3.24	0.37175	Tyrosine-protein kinase, vascular endothelial growth factor receptor 3 (VEGFR3), N-terminal (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.06962	0.0177	L	0.52364	1.645	0.37612	D	0.920967	P;P;B;B	0.47253	0.892;0.863;0.165;0.079	B;B;B;B	0.37015	0.173;0.239;0.063;0.027	T	0.46062	-0.9218	9	0.28530	T	0.3	.	14.545	0.68024	0.0:0.7224:0.2776:0.0	.	207;207;207;207	B5A927;P35916-3;E9PD35;P35916	.;.;.;VGFR3_HUMAN	K	207;207;207;17	ENSP00000261937:E207K;ENSP00000377016:E207K;ENSP00000426057:E207K	ENSP00000261937:E207K	E	-	1	0	FLT4	179989606	0.688000	0.27680	0.981000	0.43875	0.926000	0.56050	1.601000	0.36773	1.303000	0.44873	-0.264000	0.10439	GAG	FLT4	-	prints_Tyr_kinase_VEGFR3_rcpt_N		0.642	FLT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FLT4	HGNC	protein_coding	OTTHUMT00000253527.4	C			180057000	-1	no_errors	ENST00000261937	ensembl	human	known	70_37	missense	SNP	0.973	T
FNDC7	163479	genome.wustl.edu	37	1	109276098	109276098	+	Missense_Mutation	SNP	C	C	T			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr1:109276098C>T	ENST00000370017.3	+	10	2361	c.2084C>T	c.(2083-2085)tCa>tTa	p.S695L	RP11-293A10.3_ENST00000437400.2_RNA|FNDC7_ENST00000271311.2_Missense_Mutation_p.S696L	NM_001144937.1	NP_001138409.1	Q5VTL7	FNDC7_HUMAN	fibronectin type III domain containing 7	695	Fibronectin type-III 8. {ECO:0000255|PROSITE-ProRule:PRU00316}.					extracellular region (GO:0005576)		p.S462L(1)|p.S695L(1)		breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(1)|skin(4)|stomach(1)|urinary_tract(1)	20		all_lung(203;0.00439)|Lung NSC(277;0.00683)|all_epithelial(167;0.00728)		Colorectal(144;0.0314)|Lung(183;0.0924)|COAD - Colon adenocarcinoma(174;0.119)|Epithelial(280;0.173)|all cancers(265;0.244)		GTGATGGTCTCACCAGTTGCT	0.423																																																	2	Substitution - Missense(2)	urinary_tract(2)											106.0	101.0	103.0					1																	109276098		2203	4300	6503	SO:0001583	missense	163479				CCDS44185.1	1p13.3	2013-02-11			ENSG00000143107	ENSG00000143107		"""Fibronectin type III domain containing"""	26668	protein-coding gene	gene with protein product						12477932	Standard	NM_001144937		Approved	FLJ35838	uc001dvx.3	Q5VTL7	OTTHUMG00000011120	ENST00000370017.3:c.2084C>T	1.37:g.109276098C>T	ENSP00000359034:p.Ser695Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	A1L468|E9PAZ5|Q6PF16|Q8NA51	Missense_Mutation	SNP	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	p.S696L	ENST00000370017.3	37	c.2087	CCDS44185.1	1	.	.	.	.	.	.	.	.	.	.	C	29.4	4.999830	0.93227	.	.	ENSG00000143107	ENST00000370017;ENST00000271311	D;D	0.97959	-4.63;-4.63	5.84	5.84	0.93424	Fibronectin, type III (1);	0.058259	0.64402	D	0.000001	D	0.94231	0.8148	L	0.27053	0.805	0.58432	D	0.999993	P;D	0.53885	0.775;0.963	B;P	0.47603	0.256;0.551	D	0.93172	0.6567	10	0.12103	T	0.63	-12.0683	20.1377	0.98035	0.0:1.0:0.0:0.0	.	696;695	Q5VTL7;E9PAZ5	FNDC7_HUMAN;.	L	695;696	ENSP00000359034:S695L;ENSP00000271311:S696L	ENSP00000271311:S696L	S	+	2	0	FNDC7	109077621	1.000000	0.71417	1.000000	0.80357	0.930000	0.56654	5.464000	0.66719	2.766000	0.95052	0.609000	0.83330	TCA	FNDC7	-	superfamily_Fibronectin_type3		0.423	FNDC7-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	FNDC7	HGNC	protein_coding	OTTHUMT00000030589.4	C	NM_173532		109276098	+1	no_errors	ENST00000271311	ensembl	human	known	70_37	missense	SNP	1.000	T
FMO9P	116123	genome.wustl.edu	37	1	166581802	166581802	+	RNA	SNP	G	G	C			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr1:166581802G>C	ENST00000477875.1	+	0	514					NR_002925.2				flavin containing monooxygenase 9 pseudogene																		CACCTGCTTTGAAAGAAATGA	0.398																																																	0																																												116123			BC014341		1q24.1	2011-08-04			ENSG00000215834	ENSG00000215834			32210	pseudogene	pseudogene						15077013	Standard	NR_002925		Approved	RP11-45J16.2	uc010pld.2		OTTHUMG00000078309		1.37:g.166581802G>C		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000477875.1	37	NULL		1																																																																																			FMO9P	-	-		0.398	FMO9P-002	KNOWN	basic	processed_transcript	FMO9P	HGNC	pseudogene	OTTHUMT00000081454.1	G	NR_002925		166581802	+1	no_errors	ENST00000477875	ensembl	human	known	70_37	rna	SNP	1.000	C
FMN2	56776	genome.wustl.edu	37	1	240255561	240255561	+	Missense_Mutation	SNP	G	G	A			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr1:240255561G>A	ENST00000319653.9	+	1	382	c.152G>A	c.(151-153)gGg>gAg	p.G51E		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	51					cellular response to DNA damage stimulus (GO:0006974)|cellular response to hypoxia (GO:0071456)|establishment of meiotic spindle localization (GO:0051295)|formin-nucleated actin cable assembly (GO:0070649)|homologous chromosome movement towards spindle pole involved in homologous chromosome segregation (GO:0051758)|intracellular signal transduction (GO:0035556)|intracellular transport (GO:0046907)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein catabolic process (GO:0042177)|oogenesis (GO:0048477)|polar body extrusion after meiotic divisions (GO:0040038)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	cell cortex (GO:0005938)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|microvillus (GO:0005902)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|spindle (GO:0005819)	actin binding (GO:0003779)			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			CACGGCAAGGGGGGAgggggc	0.672																																																	0													4.0	6.0	5.0					1																	240255561		1992	3880	5872	SO:0001583	missense	56776			AF218942	CCDS31069.2	1q43	2008-02-05			ENSG00000155816	ENSG00000155816			14074	protein-coding gene	gene with protein product		606373				10781961	Standard	NM_020066		Approved		uc010pyd.2	Q9NZ56	OTTHUMG00000039883	ENST00000319653.9:c.152G>A	1.37:g.240255561G>A	ENSP00000318884:p.Gly51Glu	Somatic		WXS	Illumina HiSeq	Phase_IV	B0QZA7|B4DP05|Q59GF6|Q5VU37|Q9NZ55	Missense_Mutation	SNP	pfam_FH2_actin-bd,pfam_Formin_homology_1,superfamily_FH2_actin-bd,smart_Actin-bd_FH2/DRF_autoreg,pfscan_DEP_dom	p.G51E	ENST00000319653.9	37	c.152	CCDS31069.2	1	.	.	.	.	.	.	.	.	.	.	G	12.46	1.944155	0.34283	.	.	ENSG00000155816	ENST00000319653	T	0.43294	0.95	3.93	3.93	0.45458	.	.	.	.	.	T	0.47710	0.1460	L	0.54323	1.7	0.80722	D	1	D	0.54047	0.964	P	0.50860	0.652	T	0.44190	-0.9344	9	0.34782	T	0.22	.	14.6594	0.68858	0.0:0.0:1.0:0.0	.	51	Q9NZ56	FMN2_HUMAN	E	51	ENSP00000318884:G51E	ENSP00000318884:G51E	G	+	2	0	FMN2	238322184	1.000000	0.71417	0.931000	0.37212	0.893000	0.52053	2.508000	0.45450	2.185000	0.69588	0.313000	0.20887	GGG	FMN2	-	NULL		0.672	FMN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FMN2	HGNC	protein_coding	OTTHUMT00000096217.2	G	XM_371352		240255561	+1	no_errors	ENST00000319653	ensembl	human	known	70_37	missense	SNP	1.000	A
FOLH1B	219595	genome.wustl.edu	37	11	89395390	89395390	+	RNA	SNP	A	A	G			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr11:89395390A>G	ENST00000532352.1	+	0	788							Q9HBA9	FOH1B_HUMAN	folate hydrolase 1B							cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	dipeptidase activity (GO:0016805)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(26)|ovary(4)|skin(4)|urinary_tract(2)	48						GTTGGATACTATGATGCACAG	0.358																																																	0																																												219595			AF261715		11q14.3	2014-03-18			ENSG00000134612	ENSG00000134612			13636	protein-coding gene	gene with protein product	"""prostate specific membrane antigen like protein"", ""Cell growth-inhibiting gene 26 protein"", ""glutamate carboxypeptidase III"""	609020	"""folate hydrolase 2"""	FOLH2, FOLHP		9838072, 14716746	Standard	NM_153696		Approved	PSMAL, GCPIII	uc001pda.3	Q9HBA9	OTTHUMG00000167376		11.37:g.89395390A>G		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000532352.1	37	NULL		11																																																																																			FOLH1B	-	-		0.358	FOLH1B-004	KNOWN	basic	processed_transcript	FOLH1B	HGNC	pseudogene	OTTHUMT00000395421.1	A	NM_153696		89395390	+1	no_errors	ENST00000525540	ensembl	human	known	70_37	rna	SNP	0.998	G
FOXP1	27086	genome.wustl.edu	37	3	71021296	71021296	+	Intron	SNP	G	G	T			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr3:71021296G>T	ENST00000318789.4	-	18	2178				FOXP1_ENST00000468577.1_Intron|FOXP1_ENST00000491238.1_Intron|FOXP1_ENST00000484350.1_Intron|FOXP1_ENST00000475937.1_Intron|FOXP1_ENST00000498215.1_Intron|FOXP1_ENST00000493089.1_Intron	NM_001244810.1|NM_001244813.1|NM_032682.5	NP_001231739.1|NP_001231742.1|NP_116071.2	Q9H334	FOXP1_HUMAN	forkhead box P1						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)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	31		Lung NSC(201;4.62e-05)|Prostate(10;0.0181)|Hepatocellular(537;0.186)|Myeloproliferative disorder(1037;0.209)		BRCA - Breast invasive adenocarcinoma(55;1.17e-05)|Epithelial(33;1.39e-05)|LUSC - Lung squamous cell carcinoma(21;2.35e-05)|Lung(16;4.26e-05)		CTCTGATAAAGCACTTATGCA	0.507			T	PAX5	ALL																																			Dom	yes		3	3p14.1	27086	forkhead box P1		L	0																																										SO:0001627	intron_variant	27086			AF146696	CCDS2914.1, CCDS33785.1, CCDS58837.1, CCDS58838.1, CCDS58839.1, CCDS74963.1, CCDS74964.1	3p14.1	2008-07-18			ENSG00000114861	ENSG00000114861		"""Forkhead boxes"""	3823	protein-coding gene	gene with protein product	"""fork head-related protein like B"", ""glutamine-rich factor 1"", ""PAX5/FOXP1 fusion protein"""	605515				8265594, 11751404	Standard	NM_032682		Approved	QRF1, 12CC4, HSPC215, hFKH1B	uc003doj.3	Q9H334	OTTHUMG00000158803	ENST00000318789.4:c.1652+409C>A	3.37:g.71021296G>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A3QVP8|B3KV70|G5E9V8|Q8NAN6|Q9BSG9|Q9H332|Q9H333|Q9P0R1	Missense_Mutation	SNP	pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head	p.A563D	ENST00000318789.4	37	c.1688	CCDS2914.1	3																																																																																			FOXP1	-	NULL		0.507	FOXP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FOXP1	HGNC	protein_coding	OTTHUMT00000352250.1	G	NM_032682		71021296	-1	no_errors	ENST00000327590	ensembl	human	known	70_37	missense	SNP	1.000	T
FOXP1	27086	genome.wustl.edu	37	3	71179726	71179726	+	Intron	SNP	C	C	T			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr3:71179726C>T	ENST00000318789.4	-	7	706				FOXP1_ENST00000468577.1_Intron|FOXP1_ENST00000491238.1_Missense_Mutation_p.E37K|FOXP1_ENST00000484350.1_Intron|FOXP1_ENST00000475937.1_Intron|FOXP1_ENST00000498215.1_Intron|FOXP1_ENST00000493089.1_Intron	NM_001244810.1|NM_001244813.1|NM_032682.5	NP_001231739.1|NP_001231742.1|NP_116071.2	Q9H334	FOXP1_HUMAN	forkhead box P1						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)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	31		Lung NSC(201;4.62e-05)|Prostate(10;0.0181)|Hepatocellular(537;0.186)|Myeloproliferative disorder(1037;0.209)		BRCA - Breast invasive adenocarcinoma(55;1.17e-05)|Epithelial(33;1.39e-05)|LUSC - Lung squamous cell carcinoma(21;2.35e-05)|Lung(16;4.26e-05)		TAGATGGGTTCTGGCTGTTTC	0.468			T	PAX5	ALL																																			Dom	yes		3	3p14.1	27086	forkhead box P1		L	0													87.0	83.0	84.0					3																	71179726		876	1991	2867	SO:0001627	intron_variant	27086			AF146696	CCDS2914.1, CCDS33785.1, CCDS58837.1, CCDS58838.1, CCDS58839.1, CCDS74963.1, CCDS74964.1	3p14.1	2008-07-18			ENSG00000114861	ENSG00000114861		"""Forkhead boxes"""	3823	protein-coding gene	gene with protein product	"""fork head-related protein like B"", ""glutamine-rich factor 1"", ""PAX5/FOXP1 fusion protein"""	605515				8265594, 11751404	Standard	NM_032682		Approved	QRF1, 12CC4, HSPC215, hFKH1B	uc003doj.3	Q9H334	OTTHUMG00000158803	ENST00000318789.4:c.181-17938G>A	3.37:g.71179726C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A3QVP8|B3KV70|G5E9V8|Q8NAN6|Q9BSG9|Q9H332|Q9H333|Q9P0R1	Missense_Mutation	SNP	pfam_TF_fork_head,smart_TF_fork_head,pfscan_TF_fork_head,prints_TF_fork_head	p.E37K	ENST00000318789.4	37	c.109	CCDS2914.1	3	.	.	.	.	.	.	.	.	.	.	C	16.33	3.092317	0.55968	.	.	ENSG00000114861	ENST00000497355;ENST00000491238	D;D	0.91180	-2.8;-2.61	5.83	5.83	0.93111	.	.	.	.	.	D	0.94430	0.8208	.	.	.	0.80722	D	1	.	.	.	.	.	.	D	0.93833	0.7129	6	0.49607	T	0.09	.	18.2916	0.90133	0.0:1.0:0.0:0.0	.	.	.	.	K	7;37	ENSP00000418225:E7K;ENSP00000420736:E37K	ENSP00000420736:E37K	E	-	1	0	FOXP1	71262416	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.501000	0.66950	2.741000	0.93983	0.655000	0.94253	GAA	FOXP1	-	NULL		0.468	FOXP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FOXP1	HGNC	protein_coding	OTTHUMT00000352250.1	C	NM_032682		71179726	-1	no_errors	ENST00000491238	ensembl	human	putative	70_37	missense	SNP	1.000	T
FPR2	2358	genome.wustl.edu	37	19	52272492	52272492	+	Missense_Mutation	SNP	C	C	T			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr19:52272492C>T	ENST00000598776.1	+	2	1353	c.581C>T	c.(580-582)gCc>gTc	p.A194V	FPR2_ENST00000598953.1_Missense_Mutation_p.A194V|FPR2_ENST00000340023.6_Missense_Mutation_p.A194V	NM_001462.3	NP_001453.1	P25090	FPR2_HUMAN	formyl peptide receptor 2	194					cell adhesion (GO:0007155)|cellular component movement (GO:0006928)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|N-formyl peptide receptor activity (GO:0004982)			endometrium(2)|kidney(1)|large_intestine(8)|lung(18)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	33						CTGAAGGTGGCCATTACCATG	0.493																																																	0													148.0	128.0	135.0					19																	52272492		2203	4300	6503	SO:0001583	missense	2358			M88107	CCDS12840.1	19q13.3-q13.4	2012-08-10	2008-04-17	2008-04-17		ENSG00000171049		"""GPCR / Class A : Formyl peptide receptors"", ""GPCR / Class A : Leukotriene receptors"""	3827	protein-coding gene	gene with protein product		136538	"""formyl peptide receptor-like 1"""	FPRL1		9054386	Standard	NM_001462		Approved	LXA4R, HM63, FPRH2, FMLPX, FPR2A, FMLP-R-II, ALXR	uc002pxr.3	P25090		ENST00000598776.1:c.581C>T	19.37:g.52272492C>T	ENSP00000468897:p.Ala194Val	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K3E2	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Frt_met_rcpt,prints_GPCR_Rhodpsn,prints_Anphylx_rcpt,prints_P2_purnocptor,prints_DEZorph_rcpt	p.A194V	ENST00000598776.1	37	c.581	CCDS12840.1	19	.	.	.	.	.	.	.	.	.	.	.	9.534	1.111482	0.20714	.	.	ENSG00000171049	ENST00000340023	T	0.68903	-0.36	3.81	1.35	0.21983	GPCR, rhodopsin-like superfamily (1);	0.789788	0.10613	U	0.654252	T	0.53802	0.1819	L	0.42245	1.32	0.09310	N	1	B	0.10296	0.003	B	0.15870	0.014	T	0.40997	-0.9533	10	0.30078	T	0.28	.	6.308	0.21149	0.0:0.6881:0.1875:0.1244	.	194	P25090	FPR2_HUMAN	V	194	ENSP00000340191:A194V	ENSP00000340191:A194V	A	+	2	0	FPR2	56964304	0.000000	0.05858	0.001000	0.08648	0.005000	0.04900	0.634000	0.24614	0.889000	0.36185	0.491000	0.48974	GCC	FPR2	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.493	FPR2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	FPR2	HGNC	protein_coding	OTTHUMT00000466912.2	C	NM_001005738		52272492	+1	no_errors	ENST00000340023	ensembl	human	known	70_37	missense	SNP	0.007	T
FREM2	341640	genome.wustl.edu	37	13	39262583	39262583	+	Missense_Mutation	SNP	G	G	T			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr13:39262583G>T	ENST00000280481.7	+	1	1318	c.1102G>T	c.(1102-1104)Ggc>Tgc	p.G368C		NM_207361.4	NP_997244.3	Q5SZK8	FREM2_HUMAN	FRAS1 related extracellular matrix protein 2	368					cell communication (GO:0007154)|homophilic cell adhesion (GO:0007156)|inner ear development (GO:0048839)|morphogenesis of an epithelium (GO:0002009)	basement membrane (GO:0005604)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(35)|lung(39)|ovary(9)|pancreas(2)|prostate(12)|skin(11)|upper_aerodigestive_tract(7)|urinary_tract(2)	148		Lung NSC(96;1.04e-07)|Prostate(109;0.00384)|Breast(139;0.00396)|Lung SC(185;0.0565)|Hepatocellular(188;0.114)		all cancers(112;3.32e-07)|Epithelial(112;1.66e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00154)|BRCA - Breast invasive adenocarcinoma(63;0.00631)|GBM - Glioblastoma multiforme(144;0.0312)		GCCTGGCCAGGGCTACTTGGT	0.582																																																	0													111.0	106.0	107.0					13																	39262583		2203	4300	6503	SO:0001583	missense	341640			BX538150	CCDS31960.1	13q13.3	2004-12-15			ENSG00000150893	ENSG00000150893			25396	protein-coding gene	gene with protein product		608945				15345741	Standard	NM_207361		Approved	DKFZp686J0811	uc001uwv.3	Q5SZK8	OTTHUMG00000016759	ENST00000280481.7:c.1102G>T	13.37:g.39262583G>T	ENSP00000280481:p.Gly368Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q4QQG1|Q5H9N8|Q5T6Q1|Q6N057|Q6ZSB4|Q7Z305|Q7Z341	Missense_Mutation	SNP	pfam_Calx_beta,superfamily_Cadherin-like,smart_Calx_beta	p.G368C	ENST00000280481.7	37	c.1102	CCDS31960.1	13	.	.	.	.	.	.	.	.	.	.	G	18.67	3.673592	0.67928	.	.	ENSG00000150893	ENST00000280481	T	0.43294	0.95	5.94	5.1	0.69264	.	0.000000	0.85682	D	0.000000	T	0.69324	0.3098	M	0.86343	2.81	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.76105	-0.3081	10	0.72032	D	0.01	.	15.4187	0.74995	0.0667:0.0:0.9333:0.0	.	368	Q5SZK8	FREM2_HUMAN	C	368	ENSP00000280481:G368C	ENSP00000280481:G368C	G	+	1	0	FREM2	38160583	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.864000	0.99589	1.531000	0.49152	0.561000	0.74099	GGC	FREM2	-	NULL		0.582	FREM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FREM2	HGNC	protein_coding	OTTHUMT00000044599.2	G	NM_207361		39262583	+1	no_errors	ENST00000280481	ensembl	human	known	70_37	missense	SNP	1.000	T
FRMPD3	84443	genome.wustl.edu	37	X	106845537	106845537	+	Missense_Mutation	SNP	G	G	A			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chrX:106845537G>A	ENST00000276185.4	+	16	4367	c.4367G>A	c.(4366-4368)aGg>aAg	p.R1456K				Q5JV73	FRPD3_HUMAN	FERM and PDZ domain containing 3	1456						cytoskeleton (GO:0005856)				breast(3)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(16)|ovary(2)|urinary_tract(1)	28						ATGCTGCCCAGGGAGGCCAAG	0.617																																																	0													25.0	27.0	26.0					X																	106845537		876	1987	2863	SO:0001583	missense	84443			AB058720	CCDS76006.1	Xq22	2008-02-05			ENSG00000147234	ENSG00000147234			29382	protein-coding gene	gene with protein product						11347906	Standard	NM_032428		Approved	RP5-1070B1.1, KIAA1817		Q5JV73	OTTHUMG00000022165	ENST00000276185.4:c.4367G>A	X.37:g.106845537G>A	ENSP00000276185:p.Arg1456Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q96JK8	Missense_Mutation	SNP	pfam_FERM_central,pfam_PDZ,superfamily_FERM_central,superfamily_PDZ,smart_PDZ,smart_Band_41_domain,pfscan_FERM_domain,pfscan_PDZ	p.R1456K	ENST00000276185.4	37	c.4367		X	.	.	.	.	.	.	.	.	.	.	g	3.101	-0.184726	0.06340	.	.	ENSG00000147234	ENST00000276185;ENST00000439554	T;T	0.12672	2.66;2.66	3.22	3.22	0.36961	.	0.247257	0.39083	N	0.001478	T	0.06508	0.0167	N	0.19112	0.55	0.20926	N	0.999826	.	.	.	.	.	.	T	0.37430	-0.9706	8	0.02654	T	1	.	7.8455	0.29422	0.1228:0.0:0.8772:0.0	.	.	.	.	K	1456;1404	ENSP00000276185:R1456K;ENSP00000398668:R1404K	ENSP00000276185:R1456K	R	+	2	0	FRMPD3	106732193	1.000000	0.71417	0.997000	0.53966	0.027000	0.11550	4.760000	0.62235	1.868000	0.54150	0.431000	0.28591	AGG	FRMPD3	-	NULL		0.617	FRMPD3-201	KNOWN	basic|appris_principal	protein_coding	FRMPD3	HGNC	protein_coding		G	XM_042978		106845537	+1	no_errors	ENST00000276185	ensembl	human	known	70_37	missense	SNP	1.000	A
FSCN2	25794	genome.wustl.edu	37	17	79503718	79503718	+	Silent	SNP	C	C	T			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr17:79503718C>T	ENST00000417245.2	+	4	1312	c.1176C>T	c.(1174-1176)ttC>ttT	p.F392F	FSCN2_ENST00000334850.7_Silent_p.F416F	NM_001077182.2|NM_012418.3	NP_001070650.1|NP_036550.1	O14926	FSCN2_HUMAN	fascin actin-bundling protein 2, retinal	392					actin cytoskeleton organization (GO:0030036)|actin filament bundle assembly (GO:0051017)|anatomical structure morphogenesis (GO:0009653)|eye photoreceptor cell development (GO:0042462)|visual perception (GO:0007601)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|stereocilium (GO:0032420)	actin binding (GO:0003779)|actin filament binding (GO:0051015)			endometrium(1)|lung(1)|prostate(1)|urinary_tract(1)	4	all_neural(118;0.0878)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0371)			TGGACGGCTTCGTCTGCCACC	0.667																																																	0													15.0	21.0	19.0					17																	79503718		2144	4230	6374	SO:0001819	synonymous_variant	25794			AF030165	CCDS45810.1, CCDS45811.1	17q25	2014-02-03	2014-02-03		ENSG00000186765	ENSG00000186765		"""Fascins"""	3960	protein-coding gene	gene with protein product		607643	"""fascin (Strongylocentrotus purpuratus) homolog 2 (actin-bundling protein, retinal)"", ""fascin homolog 2, actin-bundling protein, retinal (Strongylocentrotus purpuratus)"""			10234509	Standard	NM_012418		Approved	RP30, RFSN	uc010wuo.2	O14926	OTTHUMG00000167477	ENST00000417245.2:c.1176C>T	17.37:g.79503718C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A0AVC4|A8MRA6	Silent	SNP	pfam_Fascin-domain,superfamily_Actin_cross-linking	p.F416	ENST00000417245.2	37	c.1248	CCDS45811.1	17																																																																																			FSCN2	-	pfam_Fascin-domain,superfamily_Actin_cross-linking		0.667	FSCN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FSCN2	HGNC	protein_coding	OTTHUMT00000394746.1	C	NM_012418		79503718	+1	no_errors	ENST00000334850	ensembl	human	known	70_37	silent	SNP	0.996	T
FSHR	2492	genome.wustl.edu	37	2	49195912	49195912	+	Missense_Mutation	SNP	T	T	G			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr2:49195912T>G	ENST00000406846.2	-	9	898	c.779A>C	c.(778-780)aAg>aCg	p.K260T	FSHR_ENST00000304421.4_Missense_Mutation_p.K234T|FSHR_ENST00000469138.1_5'UTR|FSHR_ENST00000541117.1_5'UTR|FSHR_ENST00000346173.3_Intron	NM_000145.3	NP_000136.2	P23945	FSHR_HUMAN	follicle stimulating hormone receptor	260					female gamete generation (GO:0007292)|female gonad development (GO:0008585)|follicle-stimulating hormone signaling pathway (GO:0042699)|G-protein coupled receptor signaling pathway (GO:0007186)|gonad development (GO:0008406)|male gonad development (GO:0008584)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	follicle-stimulating hormone receptor activity (GO:0004963)			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|liver(1)|lung(45)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	73		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Suramin(DB04786)|Urofollitropin(DB00094)	GGCGACAAGCTTTTCCAGAGT	0.493									Gonadal Dysgenesis, 46 XX																																								0													104.0	98.0	100.0					2																	49195912		2203	4300	6503	SO:0001583	missense	2492	Familial Cancer Database			CCDS1843.1, CCDS1844.1, CCDS1844.2	2p21-p16	2014-09-17			ENSG00000170820	ENSG00000170820		"""GPCR / Class A : Gonadotropin and TSH receptors"""	3969	protein-coding gene	gene with protein product		136435		ODG1		8230163, 8855829	Standard	NM_000145		Approved	FSHRO, LGR1	uc002rww.3	P23945	OTTHUMG00000129259	ENST00000406846.2:c.779A>C	2.37:g.49195912T>G	ENSP00000384708:p.Lys260Thr	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K947|G5CBS7|G5E967|J3KQ00|Q05AH0|Q16225|Q4QRJ3|Q4ZFZ2|Q53RW2	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_GnHR_TM,pfam_LRR-contain_N,pfam_Leu-rich_rpt,smart_LRR-contain_N,prints_FSH_rcpt,prints_Gphrmn_rcpt,prints_GPCR_Rhodpsn,prints_TSH_rcpt,pfscan_GPCR_Rhodpsn_7TM	p.K260T	ENST00000406846.2	37	c.779	CCDS1843.1	2	.	.	.	.	.	.	.	.	.	.	T	8.897	0.955500	0.18507	.	.	ENSG00000170820	ENST00000406846;ENST00000304421	T;T	0.71222	-0.55;-0.51	5.45	4.29	0.51040	.	0.386001	0.27941	N	0.017221	T	0.59905	0.2228	L	0.39245	1.2	0.26165	N	0.979943	B;B	0.06786	0.001;0.001	B;B	0.04013	0.001;0.001	T	0.46978	-0.9152	9	.	.	.	.	12.1196	0.53883	0.0:0.0:0.1434:0.8566	.	234;260	Q05AH0;P23945	.;FSHR_HUMAN	T	260;234	ENSP00000384708:K260T;ENSP00000306780:K234T	.	K	-	2	0	FSHR	49049416	0.920000	0.31207	0.599000	0.28851	0.889000	0.51656	1.956000	0.40382	1.072000	0.40860	0.533000	0.62120	AAG	FSHR	-	NULL		0.493	FSHR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FSHR	HGNC	protein_coding	OTTHUMT00000251367.2	T			49195912	-1	no_errors	ENST00000406846	ensembl	human	known	70_37	missense	SNP	0.395	G
FSIP2	401024	genome.wustl.edu	37	2	186609076	186609076	+	Missense_Mutation	SNP	A	A	C			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr2:186609076A>C	ENST00000424728.1	+	4	415	c.415A>C	c.(415-417)Aag>Cag	p.K139Q	FSIP2_ENST00000546113.1_5'Flank|FSIP2_ENST00000343098.5_Missense_Mutation_p.K228Q			Q5CZC0	FSIP2_HUMAN	fibrous sheath interacting protein 2	139										NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2)	69						AGAATTGAATAAGTACAGGCA	0.224																																																	0																																										SO:0001583	missense	401024			AK092099	CCDS54426.1	2q32.1	2010-06-18			ENSG00000188738	ENSG00000188738			21675	protein-coding gene	gene with protein product		615796				14702039	Standard	NM_173651		Approved	FLJ34780	uc002upl.3	Q5CZC0	OTTHUMG00000153874	ENST00000424728.1:c.415A>C	2.37:g.186609076A>C	ENSP00000401306:p.Lys139Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	Q53TL3|Q53TN5|Q5HYH2|Q6ZTZ5|Q6ZU14|Q6ZU21	Missense_Mutation	SNP	NULL	p.K228Q	ENST00000424728.1	37	c.682		2	.	.	.	.	.	.	.	.	.	.	A	14.68	2.606453	0.46527	.	.	ENSG00000188738	ENST00000343098;ENST00000424728;ENST00000326147	T;T	0.44482	0.92;0.92	5.4	4.24	0.50183	.	.	.	.	.	T	0.34600	0.0903	L	0.28274	0.84	0.25557	N	0.98702	.	.	.	.	.	.	T	0.23833	-1.0177	7	0.56958	D	0.05	.	8.2021	0.31430	0.9085:0.0:0.0915:0.0	.	.	.	.	Q	228;139;139	ENSP00000344403:K228Q;ENSP00000401306:K139Q	ENSP00000321903:K139Q	K	+	1	0	FSIP2	186317321	1.000000	0.71417	1.000000	0.80357	0.882000	0.50991	2.677000	0.46892	0.892000	0.36259	-0.589000	0.04120	AAG	FSIP2	-	NULL		0.224	FSIP2-001	KNOWN	basic	protein_coding	FSIP2	HGNC	protein_coding	OTTHUMT00000332778.3	A	NM_173651		186609076	+1	no_errors	ENST00000343098	ensembl	human	known	70_37	missense	SNP	1.000	C
FSIP2	401024	genome.wustl.edu	37	2	186667087	186667087	+	Missense_Mutation	SNP	C	C	G			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr2:186667087C>G	ENST00000424728.1	+	17	13054	c.13054C>G	c.(13054-13056)Cac>Gac	p.H4352D	AC008174.3_ENST00000436557.1_RNA|AC008174.3_ENST00000429929.1_RNA|FSIP2_ENST00000343098.5_Missense_Mutation_p.H4441D			Q5CZC0	FSIP2_HUMAN	fibrous sheath interacting protein 2	4352										NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(1)|large_intestine(11)|lung(46)|pancreas(1)|urinary_tract(2)	69						AGCTAAAATTCACATTCTCTA	0.328																																																	0																																										SO:0001583	missense	401024			AK092099	CCDS54426.1	2q32.1	2010-06-18			ENSG00000188738	ENSG00000188738			21675	protein-coding gene	gene with protein product		615796				14702039	Standard	NM_173651		Approved	FLJ34780	uc002upl.3	Q5CZC0	OTTHUMG00000153874	ENST00000424728.1:c.13054C>G	2.37:g.186667087C>G	ENSP00000401306:p.His4352Asp	Somatic		WXS	Illumina HiSeq	Phase_IV	Q53TL3|Q53TN5|Q5HYH2|Q6ZTZ5|Q6ZU14|Q6ZU21	Missense_Mutation	SNP	NULL	p.H4441D	ENST00000424728.1	37	c.13321		2	.	.	.	.	.	.	.	.	.	.	C	2.735	-0.263452	0.05754	.	.	ENSG00000188738	ENST00000343098;ENST00000424728	T;T	0.44083	0.93;0.93	5.32	2.27	0.28462	.	.	.	.	.	T	0.24122	0.0584	N	0.14661	0.345	0.09310	N	1	.	.	.	.	.	.	T	0.20009	-1.0288	7	0.30078	T	0.28	.	5.5306	0.16983	0.0:0.6367:0.1699:0.1934	.	.	.	.	D	4441;4352	ENSP00000344403:H4441D;ENSP00000401306:H4352D	ENSP00000344403:H4441D	H	+	1	0	FSIP2	186375332	0.000000	0.05858	0.002000	0.10522	0.026000	0.11368	0.013000	0.13310	0.271000	0.22005	0.557000	0.71058	CAC	FSIP2	-	NULL		0.328	FSIP2-001	KNOWN	basic	protein_coding	FSIP2	HGNC	protein_coding	OTTHUMT00000332778.3	C	NM_173651		186667087	+1	no_errors	ENST00000343098	ensembl	human	known	70_37	missense	SNP	0.002	G
FUK	197258	genome.wustl.edu	37	16	70513169	70513169	+	Missense_Mutation	SNP	C	C	T	rs377157126		TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr16:70513169C>T	ENST00000288078.6	+	23	3248	c.3016C>T	c.(3016-3018)Cgg>Tgg	p.R1006W	FUK_ENST00000571514.1_Missense_Mutation_p.R497W|FUK_ENST00000378912.2_Missense_Mutation_p.R1012W	NM_145059.2	NP_659496.2	Q8N0W3	FUK_HUMAN	fucokinase	1006						cytoplasm (GO:0005737)	ATP binding (GO:0005524)|fucokinase activity (GO:0050201)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(11)|ovary(2)|prostate(2)	23		Ovarian(137;0.0694)				CCTGACTGTGCGGCGTATGAT	0.637																																																	0								C	TRP/ARG	0,4166		0,0,2083	44.0	48.0	47.0		3016	4.5	1.0	16		47	1,8421		0,1,4210	no	missense	FUK	NM_145059.2	101	0,1,6293	TT,TC,CC		0.0119,0.0,0.0079	probably-damaging	1006/1085	70513169	1,12587	2083	4211	6294	SO:0001583	missense	197258				CCDS10891.2	16q22.1	2008-02-05			ENSG00000157353	ENSG00000157353	2.7.1.52		29500	protein-coding gene	gene with protein product	"""L-fucose kinase"""	608675				12056818	Standard	XM_006721161		Approved	FLJ39408	uc002eyy.3	Q8N0W3	OTTHUMG00000074085	ENST00000288078.6:c.3016C>T	16.37:g.70513169C>T	ENSP00000288078:p.Arg1006Trp	Somatic		WXS	Illumina HiSeq	Phase_IV	Q5PSM3|Q5XKL6|Q6ZRA0|Q96MT9	Missense_Mutation	SNP	pfam_Fucokinase,pfam_GHMP_kinase_C_dom,superfamily_Ribosomal_S5_D2-typ_fold,superfamily_Trimer_LpxA-like,prints_Galkinase	p.R1012W	ENST00000288078.6	37	c.3034	CCDS10891.2	16	.	.	.	.	.	.	.	.	.	.	C	12.19	1.864797	0.32977	0.0	1.19E-4	ENSG00000157353	ENST00000288078;ENST00000378912	D;D	0.93712	-3.27;-3.27	4.54	4.54	0.55810	GHMP kinase, C-terminal (1);	0.220859	0.43919	D	0.000502	D	0.94883	0.8346	M	0.69823	2.125	0.80722	D	1	D;D;D	0.71674	0.998;0.998;0.998	P;P;P	0.60886	0.799;0.88;0.828	D	0.94637	0.7827	10	0.72032	D	0.01	-17.3456	9.5771	0.39465	0.147:0.6902:0.1628:0.0	.	1012;912;1006	Q8N0W3-2;B2RDL5;Q8N0W3	.;.;FUK_HUMAN	W	1006;1012	ENSP00000288078:R1006W;ENSP00000368192:R1012W	ENSP00000288078:R1006W	R	+	1	2	FUK	69070670	0.962000	0.33011	1.000000	0.80357	0.996000	0.88848	0.843000	0.27640	2.356000	0.79943	0.655000	0.94253	CGG	FUK	-	pfam_GHMP_kinase_C_dom		0.637	FUK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FUK	HGNC	protein_coding	OTTHUMT00000157291.2	C	NM_145059		70513169	+1	no_errors	ENST00000378912	ensembl	human	known	70_37	missense	SNP	0.999	T
FUT9	10690	genome.wustl.edu	37	6	96651276	96651276	+	Missense_Mutation	SNP	G	G	A			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr6:96651276G>A	ENST00000302103.5	+	3	571	c.245G>A	c.(244-246)tGc>tAc	p.C82Y		NM_006581.3	NP_006572.2	Q9Y231	FUT9_HUMAN	fucosyltransferase 9 (alpha (1,3) fucosyltransferase)	82					carbohydrate metabolic process (GO:0005975)|fucosylation (GO:0036065)|L-fucose catabolic process (GO:0042355)|nervous system development (GO:0007399)|protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	alpha-(1->3)-fucosyltransferase activity (GO:0046920)|fucosyltransferase activity (GO:0008417)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(2)	34		all_cancers(76;4.77e-07)|Acute lymphoblastic leukemia(125;4.01e-09)|all_hematologic(75;1.25e-06)|all_epithelial(107;0.00279)|Colorectal(196;0.0356)		BRCA - Breast invasive adenocarcinoma(108;0.08)		CTTACATCCTGCCAAGCAATG	0.428																																					Melanoma(98;1369 1476 6592 22940 26587)												0													151.0	132.0	138.0					6																	96651276		2203	4300	6503	SO:0001583	missense	10690			AB023021	CCDS5033.1	6q16	2013-02-26			ENSG00000172461	ENSG00000172461		"""Fucosyltransferases"""	4020	protein-coding gene	gene with protein product		606865				10386598, 10575236	Standard	NM_006581		Approved	Fuc-TIX	uc003pop.4	Q9Y231	OTTHUMG00000015236	ENST00000302103.5:c.245G>A	6.37:g.96651276G>A	ENSP00000302599:p.Cys82Tyr	Somatic		WXS	Illumina HiSeq	Phase_IV	Q5T0W4	Missense_Mutation	SNP	pfam_Glyco_trans_10	p.C82Y	ENST00000302103.5	37	c.245	CCDS5033.1	6	.	.	.	.	.	.	.	.	.	.	G	18.15	3.559205	0.65538	.	.	ENSG00000172461	ENST00000302103	T	0.42131	0.98	5.27	5.27	0.74061	.	0.000000	0.85682	D	0.000000	T	0.74764	0.3759	H	0.97340	3.985	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.83872	0.0274	10	0.66056	D	0.02	-15.0267	18.2419	0.89970	0.0:0.0:1.0:0.0	.	82	Q9Y231	FUT9_HUMAN	Y	82	ENSP00000302599:C82Y	ENSP00000302599:C82Y	C	+	2	0	FUT9	96757997	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.420000	0.97426	2.617000	0.88574	0.655000	0.94253	TGC	FUT9	-	pfam_Glyco_trans_10		0.428	FUT9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FUT9	HGNC	protein_coding	OTTHUMT00000041554.2	G	NM_006581		96651276	+1	no_errors	ENST00000302103	ensembl	human	known	70_37	missense	SNP	1.000	A
FXYD3	5349	genome.wustl.edu	37	19	35613710	35613710	+	Missense_Mutation	SNP	G	G	T	rs373639453		TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr19:35613710G>T	ENST00000344013.6	+	6	335	c.139G>T	c.(139-141)Gtt>Ttt	p.V47F	FXYD3_ENST00000406988.1_Missense_Mutation_p.V47F|FXYD3_ENST00000535103.1_Missense_Mutation_p.V104F|LGI4_ENST00000493050.1_5'Flank|FXYD3_ENST00000605677.1_Missense_Mutation_p.V47F|FXYD3_ENST00000605550.1_Missense_Mutation_p.V47F|FXYD3_ENST00000604255.1_Missense_Mutation_p.V104F|FXYD3_ENST00000604804.1_Missense_Mutation_p.V76F|FXYD3_ENST00000346446.5_Missense_Mutation_p.V47F|FXYD3_ENST00000604621.1_Missense_Mutation_p.V47F|FXYD3_ENST00000603181.1_Missense_Mutation_p.V47F|FXYD3_ENST00000406242.3_Missense_Mutation_p.V47F|FXYD3_ENST00000604404.1_Missense_Mutation_p.V47F|FXYD3_ENST00000435734.2_Missense_Mutation_p.V47F|FXYD3_ENST00000603524.1_Missense_Mutation_p.V76F			Q14802	FXYD3_HUMAN	FXYD domain containing ion transport regulator 3	47					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|regulation of catalytic activity (GO:0050790)|transmembrane transport (GO:0055085)	chloride channel complex (GO:0034707)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	chloride channel activity (GO:0005254)			endometrium(1)|lung(2)|prostate(1)	4	all_lung(56;5.38e-08)|Lung NSC(56;8.61e-08)|Esophageal squamous(110;0.162)		Epithelial(14;5.54e-20)|OV - Ovarian serous cystadenocarcinoma(14;1.33e-18)|all cancers(14;4.27e-17)|LUSC - Lung squamous cell carcinoma(66;0.0849)			CTGCGCTGGGGTTCTGTGCGC	0.662																																																	0													87.0	91.0	90.0					19																	35613710		2203	4300	6503	SO:0001583	missense	5349			X93036	CCDS12442.1, CCDS12443.1, CCDS46048.1, CCDS46049.1, CCDS46050.1	19q13.11-q13.12	2008-05-14	2002-01-14			ENSG00000089356			4027	protein-coding gene	gene with protein product		604996	"""FXYD domain-containing ion transport regulator 3"""	PLML		7836447, 10950925	Standard	NM_005971		Approved	MAT-8	uc010xsm.2	Q14802		ENST00000344013.6:c.139G>T	19.37:g.35613710G>T	ENSP00000339499:p.Val47Phe	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NDE0|C9JDU2|F5H174|F8WB34|Q13211|Q6IB59	Missense_Mutation	SNP	pfam_Ion-transport_regulator_FXYD	p.V104F	ENST00000344013.6	37	c.310	CCDS12442.1	19	.	.	.	.	.	.	.	.	.	.	G	13.93	2.382966	0.42207	.	.	ENSG00000089356	ENST00000406242;ENST00000435734;ENST00000346446;ENST00000344013;ENST00000406988;ENST00000535103	T;T;T;T;T	0.71222	-0.55;-0.55;-0.55;-0.55;-0.55	4.97	-5.27	0.02763	.	0.525817	0.18372	N	0.143240	T	0.72811	0.3507	L	0.53617	1.68	0.22500	N	0.999044	D;P;D;P	0.57571	0.98;0.944;0.962;0.922	P;P;P;P	0.60068	0.868;0.498;0.628;0.627	T	0.70766	-0.4783	10	0.72032	D	0.01	-2.9552	12.1756	0.54184	0.7931:0.0:0.2069:0.0	.	104;47;47;47	F5H174;F8WB34;Q14802-2;Q14802	.;.;.;FXYD3_HUMAN	F	47;104;47;47;47;104	ENSP00000385412:V47F;ENSP00000328259:V47F;ENSP00000339499:V47F;ENSP00000385200:V47F;ENSP00000443953:V104F	ENSP00000339499:V47F	V	+	1	0	FXYD3	40305550	0.000000	0.05858	0.001000	0.08648	0.264000	0.26372	-1.294000	0.02767	-0.832000	0.04251	0.650000	0.86243	GTT	FXYD3	-	pfam_Ion-transport_regulator_FXYD		0.662	FXYD3-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FXYD3	HGNC	protein_coding	OTTHUMT00000468985.1	G	NM_021910		35613710	+1	no_errors	ENST00000435734	ensembl	human	known	70_37	missense	SNP	0.001	T
FZD10	11211	genome.wustl.edu	37	12	130648507	130648507	+	Silent	SNP	G	G	A			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr12:130648507G>A	ENST00000229030.4	+	1	1504	c.1020G>A	c.(1018-1020)aaG>aaA	p.K340K	FZD10-AS1_ENST00000505807.2_RNA|FZD10_ENST00000539839.1_Missense_Mutation_p.E308K			Q9ULW2	FZD10_HUMAN	frizzled class receptor 10	340					brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|cellular response to retinoic acid (GO:0071300)|gonad development (GO:0008406)|negative regulation of Rho GTPase activity (GO:0034259)|neuron differentiation (GO:0030182)|non-canonical Wnt signaling pathway via JNK cascade (GO:0038031)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of Rac GTPase activity (GO:0032855)|regulation of actin cytoskeleton organization (GO:0032956)|vasculature development (GO:0001944)	cell projection (GO:0042995)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(4)|large_intestine(7)|lung(14)|pancreas(1)|prostate(3)|urinary_tract(1)	35	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.3e-06)|Epithelial(86;1.66e-05)|all cancers(50;5.18e-05)		CCGCCGGCAAGAAGTGGGGCC	0.647																																																	0													50.0	46.0	47.0					12																	130648507		2203	4300	6503	SO:0001819	synonymous_variant	11211			AB027464	CCDS9267.1	12q24.33	2014-01-29	2014-01-29			ENSG00000111432		"""GPCR / Class F : Frizzled receptors"", ""CD molecules"""	4039	protein-coding gene	gene with protein product		606147	"""frizzled (Drosophila) homolog 10"", ""frizzled homolog 10 (Drosophila)"", ""frizzled 10, seven transmembrane spanning receptor"", ""frizzled family receptor 10"""			10448064	Standard	NM_007197		Approved	CD350	uc001uii.3	Q9ULW2		ENST00000229030.4:c.1020G>A	12.37:g.130648507G>A		Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	NULL	p.E308K	ENST00000229030.4	37	c.922	CCDS9267.1	12	.	.	.	.	.	.	.	.	.	.	G	12.49	1.953209	0.34471	.	.	ENSG00000111432	ENST00000539839	.	.	.	5.1	4.2	0.49525	.	.	.	.	.	T	0.60235	0.2253	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.57774	-0.7753	4	.	.	.	.	9.8722	0.41182	0.2149:0.0:0.7851:0.0	.	.	.	.	K	308	.	.	E	+	1	0	FZD10	129214460	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.607000	0.46300	2.374000	0.81015	0.561000	0.74099	GAA	FZD10	-	NULL		0.647	FZD10-201	KNOWN	basic|appris_principal|CCDS	protein_coding	FZD10	HGNC	protein_coding		G			130648507	+1	no_errors	ENST00000539839	ensembl	human	known	70_37	missense	SNP	1.000	A
FZD4	8322	genome.wustl.edu	37	11	86665856	86665856	+	Missense_Mutation	SNP	G	G	C			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr11:86665856G>C	ENST00000531380.1	-	1	577	c.272C>G	c.(271-273)tCc>tGc	p.S91C	RP11-736K20.6_ENST00000499504.3_lincRNA	NM_012193.3	NP_036325.2	Q9ULV1	FZD4_HUMAN	frizzled class receptor 4	91	FZ. {ECO:0000255|PROSITE- ProRule:PRU00090}.				brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|cellular response to retinoic acid (GO:0071300)|cerebellum vasculature morphogenesis (GO:0061301)|extracellular matrix-cell signaling (GO:0035426)|locomotion involved in locomotory behavior (GO:0031987)|negative regulation of cell-substrate adhesion (GO:0010812)|neuron differentiation (GO:0030182)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription, DNA-templated (GO:0045893)|progesterone secretion (GO:0042701)|regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030947)|retina vasculature morphogenesis in camera-type eye (GO:0061299)|retinal blood vessel morphogenesis (GO:0061304)|sensory perception of sound (GO:0007605)|substrate adhesion-dependent cell spreading (GO:0034446)|vasculogenesis (GO:0001570)|Wnt signaling pathway (GO:0016055)|Wnt signaling pathway, calcium modulating pathway (GO:0007223)	cell projection (GO:0042995)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cytokine binding (GO:0019955)|G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|ubiquitin protein ligase binding (GO:0031625)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			breast(1)|kidney(1)|large_intestine(3)|lung(9)|prostate(6)|skin(1)	21		Acute lymphoblastic leukemia(157;2.31e-05)|all_hematologic(158;0.00824)				CAGCTGGCTGGAGCAGCCGTA	0.627																																																	0													22.0	23.0	23.0					11																	86665856		2201	4299	6500	SO:0001583	missense	8322			AB032417	CCDS8279.1	11q14-q21	2014-01-29	2014-01-29			ENSG00000174804		"""GPCR / Class F : Frizzled receptors"", ""CD molecules"""	4042	protein-coding gene	gene with protein product		604579	"""frizzled (Drosophila) homolog 4"", ""exudative vitreoretinopathy 1"", ""frizzled homolog 4 (Drosophila)"", ""frizzled 4, seven transmembrane spanning receptor"", ""frizzled family receptor 4"""	EVR1		10544037, 15024691	Standard	NM_012193		Approved	CD344	uc001pce.3	Q9ULV1		ENST00000531380.1:c.272C>G	11.37:g.86665856G>C	ENSP00000434034:p.Ser91Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K9Q3|Q14C97|Q6S9E4	Missense_Mutation	SNP	pfam_Frizzled,pfam_Frizzled_dom,superfamily_Frizzled_dom,smart_Frizzled_dom,pfscan_Frizzled_dom,pfscan_GPCR_2-like,prints_Frizzled	p.S91C	ENST00000531380.1	37	c.272	CCDS8279.1	11	.	.	.	.	.	.	.	.	.	.	G	21.0	4.083773	0.76642	.	.	ENSG00000174804	ENST00000531380	D	0.81499	-1.5	5.13	5.13	0.70059	Frizzled domain (5);	0.050469	0.85682	D	0.000000	D	0.92967	0.7762	H	0.95745	3.715	0.58432	D	0.999993	D	0.76494	0.999	D	0.77557	0.99	D	0.94865	0.8025	9	.	.	.	.	18.5332	0.91000	0.0:0.0:1.0:0.0	.	91	Q9ULV1	FZD4_HUMAN	C	91	ENSP00000434034:S91C	.	S	-	2	0	FZD4	86343504	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.449000	0.35123	2.571000	0.86741	0.561000	0.74099	TCC	FZD4	-	pfam_Frizzled_dom,superfamily_Frizzled_dom,smart_Frizzled_dom,pfscan_Frizzled_dom		0.627	FZD4-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	FZD4	HGNC	protein_coding	OTTHUMT00000393818.2	G	NM_012193		86665856	-1	no_errors	ENST00000531380	ensembl	human	known	70_37	missense	SNP	1.000	C
GABBR2	9568	genome.wustl.edu	37	9	101056174	101056174	+	Missense_Mutation	SNP	C	C	A			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr9:101056174C>A	ENST00000259455.2	-	18	3012	c.2553G>T	c.(2551-2553)aaG>aaT	p.K851N		NM_005458.7	NP_005449.5	O75899	GABR2_HUMAN	gamma-aminobutyric acid (GABA) B receptor, 2	851					G-protein coupled receptor signaling pathway (GO:0007186)|gamma-aminobutyric acid signaling pathway (GO:0007214)|negative regulation of adenylate cyclase activity (GO:0007194)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|G-protein coupled receptor heterodimeric complex (GO:0038039)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	G-protein coupled GABA receptor activity (GO:0004965)	p.K851N(1)	NOTCH1_ENST00000277541/GABBR2(2)	breast(4)|endometrium(4)|large_intestine(12)|lung(21)|ovary(2)|skin(4)|stomach(1)|urinary_tract(1)	49		Acute lymphoblastic leukemia(62;0.0527)			Baclofen(DB00181)	TTAAAATGGCCTTTCCTCCAT	0.383																																																	1	Substitution - Missense(1)	large_intestine(1)											199.0	192.0	195.0					9																	101056174		2203	4300	6503	SO:0001583	missense	9568			AF069755	CCDS6736.1	9q22.1-q22.3	2012-08-29	2006-02-16	2006-02-16	ENSG00000136928	ENSG00000136928		"""GABA receptors"", ""GPCR / Class C : GABA(B) receptors"""	4507	protein-coding gene	gene with protein product		607340	"""G protein-coupled receptor 51"""	GPR51		10087195	Standard	NM_005458		Approved	HG20, GABABR2, GPRC3B	uc004ays.3	O75899	OTTHUMG00000020345	ENST00000259455.2:c.2553G>T	9.37:g.101056174C>A	ENSP00000259455:p.Lys851Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	O75974|O75975|Q5VXZ2|Q8WX04|Q9P1R2|Q9UNR1|Q9UNS9	Missense_Mutation	SNP	pfam_GPCR_3_C,pfam_ANF_lig-bd_rcpt,pfscan_GPCR_3_C,prints_GPCR_3_GABA_rcpt_B2,prints_GPCR_3_GABA_rcpt_B,prints_GPCR_3_GABA_rcpt_B1,prints_GPCR_3	p.K851N	ENST00000259455.2	37	c.2553	CCDS6736.1	9	.	.	.	.	.	.	.	.	.	.	C	21.1	4.099759	0.76983	.	.	ENSG00000136928	ENST00000259455	T	0.80738	-1.41	5.11	4.19	0.49359	.	0.000000	0.85682	D	0.000000	T	0.79329	0.4427	N	0.14661	0.345	0.58432	D	0.999996	D	0.57899	0.981	D	0.69824	0.966	T	0.79463	-0.1793	10	0.46703	T	0.11	.	11.8456	0.52383	0.0:0.9121:0.0:0.0879	.	851	O75899	GABR2_HUMAN	N	851	ENSP00000259455:K851N	ENSP00000259455:K851N	K	-	3	2	GABBR2	100095995	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.366000	0.34193	2.645000	0.89757	0.655000	0.94253	AAG	GABBR2	-	prints_GPCR_3_GABA_rcpt_B2		0.383	GABBR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GABBR2	HGNC	protein_coding	OTTHUMT00000053373.1	C			101056174	-1	no_errors	ENST00000259455	ensembl	human	known	70_37	missense	SNP	1.000	A
GABRQ	55879	genome.wustl.edu	37	X	151821378	151821378	+	Silent	SNP	C	C	T			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chrX:151821378C>T	ENST00000370306.2	+	9	1553	c.1533C>T	c.(1531-1533)ggC>ggT	p.G511G		NM_018558.2	NP_061028.3	Q9UN88	GBRT_HUMAN	gamma-aminobutyric acid (GABA) A receptor, theta	511					neurotransmitter transport (GO:0006836)|signal transduction (GO:0007165)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|postsynaptic membrane (GO:0045211)|receptor complex (GO:0043235)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)|neurotransmitter transporter activity (GO:0005326)|transmembrane signaling receptor activity (GO:0004888)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(9)|lung(25)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	52	Acute lymphoblastic leukemia(192;6.56e-05)				Acamprosate(DB00659)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Flumazenil(DB01205)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	AGCGCCATGGCCATGGCCCCA	0.557																																																	0													79.0	68.0	72.0					X																	151821378		2203	4300	6503	SO:0001819	synonymous_variant	55879			U47334	CCDS14707.1	Xq28	2012-06-22	2012-02-03		ENSG00000147402	ENSG00000268089		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	14454	protein-coding gene	gene with protein product	"""GABA(A) receptor, theta"""	300349	"""gamma-aminobutyric acid (GABA) receptor, theta"""			10804200, 10449790	Standard	NM_018558		Approved	THETA	uc004ffp.1	Q9UN88	OTTHUMG00000022649	ENST00000370306.2:c.1533C>T	X.37:g.151821378C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A6NFN1|Q32MB4|Q9NZK8	Silent	SNP	pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABAAt_rcpt,prints_GABAA_rcpt,prints_Neur_channel,prints_GABAAb_rcpt,prints_GABAAa_rcpt,prints_GABBAg_rcpt,tigrfam_Neur_channel	p.G511	ENST00000370306.2	37	c.1533	CCDS14707.1	X																																																																																			GABRQ	-	pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM		0.557	GABRQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GABRQ	HGNC	protein_coding	OTTHUMT00000058763.2	C	NM_018558		151821378	+1	no_errors	ENST00000370306	ensembl	human	known	70_37	silent	SNP	0.000	T
GALNT14	79623	genome.wustl.edu	37	2	31215713	31215713	+	Missense_Mutation	SNP	C	C	T	rs113322802		TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr2:31215713C>T	ENST00000349752.5	-	2	929	c.290G>A	c.(289-291)cGc>cAc	p.R97H	GALNT14_ENST00000324589.5_Intron|GALNT14_ENST00000420311.2_Missense_Mutation_p.R62H|GALNT14_ENST00000356174.3_Missense_Mutation_p.R97H|GALNT14_ENST00000406653.1_Missense_Mutation_p.R77H|AC009305.1_ENST00000449780.1_RNA	NM_024572.3	NP_078848.2	Q96FL9	GLT14_HUMAN	polypeptide N-acetylgalactosaminyltransferase 14	97					cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			cervix(1)|endometrium(3)|large_intestine(10)|liver(1)|lung(21)|ovary(1)|skin(3)|upper_aerodigestive_tract(3)	43	Acute lymphoblastic leukemia(172;0.155)					CCTCAGATGGCGAGTGTCCGG	0.567																																																	0													102.0	100.0	100.0					2																	31215713		2203	4300	6503	SO:0001583	missense	79623			AB078144	CCDS1773.2, CCDS58705.1, CCDS58706.1	2p23.2	2014-03-13	2014-03-13		ENSG00000158089	ENSG00000158089	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	22946	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 14"""	608225	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 14 (GalNAc-T14)"""			12507512	Standard	NM_024572		Approved	GalNac-T10, FLJ12691, GalNac-T14	uc002rns.3	Q96FL9	OTTHUMG00000074077	ENST00000349752.5:c.290G>A	2.37:g.31215713C>T	ENSP00000288988:p.Arg97His	Somatic		WXS	Illumina HiSeq	Phase_IV	B3KV89|Q4ZG75|Q53SU1|Q53TJ0|Q8IVI4|Q9BRH1|Q9H827|Q9H9J8	Missense_Mutation	SNP	pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin	p.R97H	ENST00000349752.5	37	c.290	CCDS1773.2	2	.	.	.	.	.	.	.	.	.	.	C	18.79	3.698192	0.68386	.	.	ENSG00000158089	ENST00000349752;ENST00000406653;ENST00000356174;ENST00000420311;ENST00000430167	T;T;T;T;T	0.72615	0.02;0.02;-0.29;0.02;-0.67	4.96	4.96	0.65561	.	.	.	.	.	D	0.86112	0.5855	M	0.85945	2.785	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;0.998;1.0	D;D;D;P;D	0.87578	0.994;0.98;0.998;0.872;0.998	D	0.88377	0.2999	9	0.87932	D	0	.	18.396	0.90499	0.0:1.0:0.0:0.0	.	62;62;97;97;77	F5H263;B7Z5C5;Q96FL9-2;Q96FL9;B3KV89	.;.;.;GLT14_HUMAN;.	H	97;77;97;62;97	ENSP00000288988:R97H;ENSP00000385435:R77H;ENSP00000348497:R97H;ENSP00000415514:R62H;ENSP00000406399:R97H	ENSP00000288988:R97H	R	-	2	0	GALNT14	31069217	1.000000	0.71417	0.966000	0.40874	0.171000	0.22731	6.585000	0.74062	2.564000	0.86499	0.561000	0.74099	CGC	GALNT14	-	NULL		0.567	GALNT14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GALNT14	HGNC	protein_coding	OTTHUMT00000157264.1	C	NM_024572		31215713	-1	no_errors	ENST00000349752	ensembl	human	known	70_37	missense	SNP	1.000	T
GAD1	2571	genome.wustl.edu	37	2	171710457	171710457	+	Silent	SNP	C	C	T	rs368382588		TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr2:171710457C>T	ENST00000358196.3	+	14	1888	c.1338C>T	c.(1336-1338)taC>taT	p.Y446Y		NM_000817.2	NP_000808.2	Q99259	DCE1_HUMAN	glutamate decarboxylase 1 (brain, 67kDa)	446					gamma-aminobutyric acid biosynthetic process (GO:0009449)|glutamate catabolic process (GO:0006538)|glutamate decarboxylation to succinate (GO:0006540)|neurotransmitter biosynthetic process (GO:0042136)|neurotransmitter secretion (GO:0007269)|protein-pyridoxal-5-phosphate linkage (GO:0018352)|response to drug (GO:0042493)|synaptic transmission (GO:0007268)	clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane (GO:0061202)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|vesicle membrane (GO:0012506)	glutamate binding (GO:0016595)|glutamate decarboxylase activity (GO:0004351)|pyridoxal phosphate binding (GO:0030170)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(15)|ovary(1)|urinary_tract(2)	35						ATGTCTCCTACGACACCGGGG	0.478																																																	0								C		0,4406		0,0,2203	155.0	141.0	146.0		1338	-11.0	0.0	2		146	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	GAD1	NM_000817.2		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		446/595	171710457	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	2571				CCDS2239.1, CCDS2240.1	2q31	2008-02-05	2002-08-29		ENSG00000128683	ENSG00000128683	4.1.1.15		4092	protein-coding gene	gene with protein product		605363	"""glutamate decarboxylase 1 (brain, 67kD)"""	GAD		1549570	Standard	XM_005246443		Approved		uc002ugi.3	Q99259	OTTHUMG00000044175	ENST00000358196.3:c.1338C>T	2.37:g.171710457C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q49AK1|Q53TQ7|Q9BU91|Q9UHH4	Silent	SNP	pfam_PyrdxlP-dep_de-COase,pfam_Aminotrans_V/Cys_dSase,pfam_ArAA_b-elim_lyase/Thr_aldolase,superfamily_PyrdxlP-dep_Trfase_major_dom	p.Y446	ENST00000358196.3	37	c.1338	CCDS2239.1	2																																																																																			GAD1	-	pfam_PyrdxlP-dep_de-COase,superfamily_PyrdxlP-dep_Trfase_major_dom		0.478	GAD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GAD1	HGNC	protein_coding	OTTHUMT00000102664.2	C			171710457	+1	no_errors	ENST00000358196	ensembl	human	known	70_37	silent	SNP	0.007	T
GANAB	23193	genome.wustl.edu	37	11	62393834	62393834	+	Missense_Mutation	SNP	G	G	A			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr11:62393834G>A	ENST00000356638.3	-	22	2613	c.2597C>T	c.(2596-2598)tCa>tTa	p.S866L	GANAB_ENST00000540933.1_Missense_Mutation_p.S769L|GANAB_ENST00000346178.4_Missense_Mutation_p.S888L|GANAB_ENST00000534779.1_Missense_Mutation_p.S774L	NM_198334.1	NP_938148.1	Q14697	GANAB_HUMAN	glucosidase, alpha; neutral AB	866					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)|glucosidase II complex (GO:0017177)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)|glucan 1,3-alpha-glucosidase activity (GO:0033919)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|ovary(3)|skin(2)|urinary_tract(3)	35					Miglitol(DB00491)	GCCAGAGAATGAGAATCGACG	0.547																																					Melanoma(23;1005 1074 15747 18937)												0													132.0	116.0	122.0					11																	62393834		2202	4299	6501	SO:0001583	missense	23193			AF144074	CCDS8026.1, CCDS41656.1, CCDS60817.1, CCDS60818.1	11q12.3	2012-10-02			ENSG00000089597	ENSG00000089597	3.2.1.20		4138	protein-coding gene	gene with protein product		104160				10764838, 6342981	Standard	NM_198335		Approved	GluII, G2AN, KIAA0088	uc001nua.4	Q14697	OTTHUMG00000167696	ENST00000356638.3:c.2597C>T	11.37:g.62393834G>A	ENSP00000349053:p.Ser866Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NC20|Q8WTS9|Q9P0X0	Missense_Mutation	SNP	pfam_Glyco_hydro_31,superfamily_Glycoside_hydrolase_SF,superfamily_Glyco_hydro-type_carb-bd	p.S888L	ENST00000356638.3	37	c.2663	CCDS8026.1	11	.	.	.	.	.	.	.	.	.	.	G	11.42	1.633519	0.29068	.	.	ENSG00000089597	ENST00000346178;ENST00000356638;ENST00000534779;ENST00000540933	D;D;D;D	0.88975	-2.4;-2.35;-2.45;-2.4	4.71	3.79	0.43588	.	0.404113	0.25009	N	0.033853	T	0.81740	0.4886	L	0.28694	0.88	0.34511	D	0.707081	B;B;B;B	0.12013	0.001;0.001;0.005;0.004	B;B;B;B	0.12837	0.002;0.002;0.006;0.008	T	0.77595	-0.2529	10	0.29301	T	0.29	-6.1744	11.7343	0.51757	0.0923:0.0:0.9077:0.0	.	752;774;866;888	B4DIW2;E9PKU7;Q14697;Q14697-2	.;.;GANAB_HUMAN;.	L	888;866;774;769	ENSP00000340466:S888L;ENSP00000349053:S866L;ENSP00000435306:S774L;ENSP00000442962:S769L	ENSP00000340466:S888L	S	-	2	0	GANAB	62150410	0.991000	0.36638	0.951000	0.38953	0.985000	0.73830	2.058000	0.41374	0.600000	0.29862	-0.797000	0.03246	TCA	GANAB	-	NULL		0.547	GANAB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	GANAB	HGNC	protein_coding	OTTHUMT00000395689.1	G	NM_198334		62393834	-1	no_errors	ENST00000346178	ensembl	human	known	70_37	missense	SNP	0.968	A
GAP43	2596	genome.wustl.edu	37	3	115394992	115394992	+	Missense_Mutation	SNP	A	A	G			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr3:115394992A>G	ENST00000305124.6	+	2	529	c.163A>G	c.(163-165)Aag>Gag	p.K55E	GAP43_ENST00000393780.3_Missense_Mutation_p.K91E	NM_002045.3	NP_002036.1	P17677	NEUM_HUMAN	growth associated protein 43	55	IQ. {ECO:0000255|PROSITE- ProRule:PRU00116}.				axon choice point recognition (GO:0016198)|cell fate commitment (GO:0045165)|glial cell differentiation (GO:0010001)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of filopodium assembly (GO:0051489)|regulation of growth (GO:0040008)|response to wounding (GO:0009611)|tissue regeneration (GO:0042246)	axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|plasma membrane (GO:0005886)|synapse (GO:0045202)				endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	32				GBM - Glioblastoma multiforme(114;0.164)		CAAAGGAGAGAAGAAGGATGA	0.478																																																	0													96.0	95.0	95.0					3																	115394992		2203	4300	6503	SO:0001583	missense	2596				CCDS33830.1, CCDS46890.1	3q13.31	2013-09-19			ENSG00000172020	ENSG00000172020			4140	protein-coding gene	gene with protein product	"""neuron growth-associated protein 43"", ""neuromodulin"", ""nerve growth-related peptide GAP43"", ""axonal membrane protein GAP-43"", ""protein F1"", ""calmodulin-binding protein P-57"", ""neural phosphoprotein B-50"""	162060				3272162, 8231732	Standard	NM_002045		Approved	B-50, PP46	uc003ebr.2	P17677	OTTHUMG00000133758	ENST00000305124.6:c.163A>G	3.37:g.115394992A>G	ENSP00000305010:p.Lys55Glu	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K0Y4	Missense_Mutation	SNP	pfam_Neuromodulin_C,pfam_Neuromodulin_gap-junction_N,pfam_IQ_motif_EF-hand-BS,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Neuromodulin	p.K55E	ENST00000305124.6	37	c.163	CCDS33830.1	3	.	.	.	.	.	.	.	.	.	.	A	20.2	3.949645	0.73787	.	.	ENSG00000172020	ENST00000305124;ENST00000393780	T;T	0.37915	1.21;1.17	4.88	4.88	0.63580	.	0.000000	0.85682	D	0.000000	T	0.35189	0.0923	N	0.25380	0.74	0.51012	D	0.999903	P;P	0.48503	0.911;0.911	P;B	0.49387	0.609;0.432	T	0.06588	-1.0818	10	0.34782	T	0.22	-12.7284	14.9547	0.71104	1.0:0.0:0.0:0.0	.	91;55	A8K0Y4;P17677	.;NEUM_HUMAN	E	55;91	ENSP00000305010:K55E;ENSP00000377372:K91E	ENSP00000305010:K55E	K	+	1	0	GAP43	116877682	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	5.422000	0.66453	2.171000	0.68590	0.533000	0.62120	AAG	GAP43	-	pfscan_IQ_motif_EF-hand-BS,prints_Neuromodulin		0.478	GAP43-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GAP43	HGNC	protein_coding	OTTHUMT00000258216.2	A	NM_002045		115394992	+1	no_errors	ENST00000305124	ensembl	human	known	70_37	missense	SNP	1.000	G
GBX2	2637	genome.wustl.edu	37	2	237074503	237074503	+	3'UTR	SNP	C	C	A			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr2:237074503C>A	ENST00000306318.4	-	0	1498				AC079135.1_ENST00000415226.1_RNA|AC079135.1_ENST00000483218.1_RNA|GBX2_ENST00000465889.1_5'UTR|GBX2_ENST00000551105.1_3'UTR	NM_001485.2	NP_001476.2	P52951	GBX2_HUMAN	gastrulation brain homeobox 2						autonomic nervous system development (GO:0048483)|axon guidance (GO:0007411)|cerebellar granule cell precursor proliferation (GO:0021930)|cerebellum development (GO:0021549)|forebrain neuron development (GO:0021884)|inner ear morphogenesis (GO:0042472)|midbrain-hindbrain boundary morphogenesis (GO:0021555)|nervous system development (GO:0007399)|neural crest cell migration (GO:0001755)|patterning of blood vessels (GO:0001569)|rhombomere 2 development (GO:0021568)|thalamus development (GO:0021794)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)	7		Breast(86;0.00235)|Renal(207;0.00339)|all_hematologic(139;0.00357)|all_lung(227;0.0616)|Acute lymphoblastic leukemia(138;0.0775)|Ovarian(221;0.089)|Lung NSC(271;0.179)		Epithelial(121;4.5e-25)|OV - Ovarian serous cystadenocarcinoma(60;5.16e-11)|BRCA - Breast invasive adenocarcinoma(100;3.4e-05)|Lung(119;0.00195)|LUSC - Lung squamous cell carcinoma(224;0.00471)		CATGGGTTCCCTCGGGTGCGG	0.562																																																	0																																										SO:0001624	3_prime_UTR_variant	2637			AF118452	CCDS2515.1	2q37.2	2012-03-09	2005-12-22		ENSG00000168505	ENSG00000168505		"""Homeoboxes / ANTP class : HOXL subclass"""	4186	protein-coding gene	gene with protein product		601135	"""gastrulation brain homeo box 2"""			9346236, 8838315	Standard	XM_005246071		Approved		uc002vvw.1	P52951	OTTHUMG00000133294	ENST00000306318.4:c.*54G>T	2.37:g.237074503C>A		Somatic		WXS	Illumina HiSeq	Phase_IV	B2RPH7|O43833|Q53RX5|Q9Y5Y1	RNA	SNP	-	NULL	ENST00000306318.4	37	NULL	CCDS2515.1	2																																																																																			GBX2	-	-		0.562	GBX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GBX2	HGNC	protein_coding	OTTHUMT00000257078.3	C	NM_001485		237074503	-1	no_errors	ENST00000465889	ensembl	human	putative	70_37	rna	SNP	0.003	A
GBX2	2637	genome.wustl.edu	37	2	237074607	237074607	+	Silent	SNP	T	T	G			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr2:237074607T>G	ENST00000306318.4	-	2	1394	c.997A>C	c.(997-999)Agg>Cgg	p.R333R	AC079135.1_ENST00000415226.1_RNA|AC079135.1_ENST00000483218.1_RNA|GBX2_ENST00000465889.1_5'UTR|GBX2_ENST00000551105.1_3'UTR	NM_001485.2	NP_001476.2	P52951	GBX2_HUMAN	gastrulation brain homeobox 2	333					autonomic nervous system development (GO:0048483)|axon guidance (GO:0007411)|cerebellar granule cell precursor proliferation (GO:0021930)|cerebellum development (GO:0021549)|forebrain neuron development (GO:0021884)|inner ear morphogenesis (GO:0042472)|midbrain-hindbrain boundary morphogenesis (GO:0021555)|nervous system development (GO:0007399)|neural crest cell migration (GO:0001755)|patterning of blood vessels (GO:0001569)|rhombomere 2 development (GO:0021568)|thalamus development (GO:0021794)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)	7		Breast(86;0.00235)|Renal(207;0.00339)|all_hematologic(139;0.00357)|all_lung(227;0.0616)|Acute lymphoblastic leukemia(138;0.0775)|Ovarian(221;0.089)|Lung NSC(271;0.179)		Epithelial(121;4.5e-25)|OV - Ovarian serous cystadenocarcinoma(60;5.16e-11)|BRCA - Breast invasive adenocarcinoma(100;3.4e-05)|Lung(119;0.00195)|LUSC - Lung squamous cell carcinoma(224;0.00471)		ATAGCGAACCTGCTGACGTGG	0.632																																																	0													104.0	97.0	100.0					2																	237074607		2203	4300	6503	SO:0001819	synonymous_variant	2637			AF118452	CCDS2515.1	2q37.2	2012-03-09	2005-12-22		ENSG00000168505	ENSG00000168505		"""Homeoboxes / ANTP class : HOXL subclass"""	4186	protein-coding gene	gene with protein product		601135	"""gastrulation brain homeo box 2"""			9346236, 8838315	Standard	XM_005246071		Approved		uc002vvw.1	P52951	OTTHUMG00000133294	ENST00000306318.4:c.997A>C	2.37:g.237074607T>G		Somatic		WXS	Illumina HiSeq	Phase_IV	B2RPH7|O43833|Q53RX5|Q9Y5Y1	Silent	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain,prints_Homeobox_metazoa	p.R333	ENST00000306318.4	37	c.997	CCDS2515.1	2																																																																																			GBX2	-	NULL		0.632	GBX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GBX2	HGNC	protein_coding	OTTHUMT00000257078.3	T	NM_001485		237074607	-1	no_errors	ENST00000306318	ensembl	human	known	70_37	silent	SNP	1.000	G
GCAT	23464	genome.wustl.edu	37	22	38206067	38206067	+	Missense_Mutation	SNP	G	G	A			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr22:38206067G>A	ENST00000248924.6	+	2	286	c.230G>A	c.(229-231)gGc>gAc	p.G77D	GCAT_ENST00000415371.1_Intron|GCAT_ENST00000323205.6_Missense_Mutation_p.G103D	NM_014291.3	NP_055106.1	O75600	KBL_HUMAN	glycine C-acetyltransferase	77					biosynthetic process (GO:0009058)|cellular amino acid metabolic process (GO:0006520)|L-threonine catabolic process to glycine (GO:0019518)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	glycine C-acetyltransferase activity (GO:0008890)|pyridoxal phosphate binding (GO:0030170)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(8)|skin(1)	12	Melanoma(58;0.045)				Glycine(DB00145)	AACTACCTGGGCCTGAGCAGC	0.572																																																	0													89.0	68.0	75.0					22																	38206067		2203	4300	6503	SO:0001583	missense	23464			AF077740	CCDS13957.1, CCDS54527.1	22q13.1	2010-01-19	2010-01-19		ENSG00000100116	ENSG00000100116	2.3.1.29		4188	protein-coding gene	gene with protein product	"""2-amino-3-ketobutyrate coenzyme A ligase"""	607422	"""glycine C-acetyltransferase (2-amino-3-ketobutyrate coenzyme A ligase)"""				Standard	NM_014291		Approved	KBL	uc003aua.2	O75600	OTTHUMG00000150664	ENST00000248924.6:c.230G>A	22.37:g.38206067G>A	ENSP00000248924:p.Gly77Asp	Somatic		WXS	Illumina HiSeq	Phase_IV	E2QC23|Q6ZWF1|Q96CA9	Missense_Mutation	SNP	pfam_Aminotransferase_I/II,pfam_Aminotrans_V/Cys_dSase,superfamily_PyrdxlP-dep_Trfase_major_dom,tigrfam_2am3keto_CoA_ligase	p.G77D	ENST00000248924.6	37	c.230	CCDS13957.1	22	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	29.5|29.5	5.010863|5.010863	0.93346|0.93346	.|.	.|.	ENSG00000100116|ENSG00000100116	ENST00000451984|ENST00000323205;ENST00000248924;ENST00000445195;ENST00000394944	.|D;D;D	.|0.96200	.|-3.94;-3.94;-3.94	5.08|5.08	5.08|5.08	0.68730|0.68730	.|Aminotransferase, class I/classII (1);Pyridoxal phosphate-dependent transferase, major domain (1);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.98381|0.98381	0.9462|0.9462	M|M	0.93638|0.93638	3.44|3.44	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.97110	.|1.0;1.0	D|D	0.99357|0.99357	1.0916|1.0916	5|10	.|0.87932	.|D	.|0	-32.6776|-32.6776	18.6577|18.6577	0.91460|0.91460	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|103;77	.|E2QC23;O75600	.|.;KBL_HUMAN	T|D	62|103;77;103;103	.|ENSP00000371110:G103D;ENSP00000248924:G77D;ENSP00000406719:G103D	.|ENSP00000248924:G77D	A|G	+|+	1|2	0|0	GCAT|GCAT	36536013|36536013	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.989000|0.989000	0.77384|0.77384	8.683000|8.683000	0.91236|0.91236	2.648000|2.648000	0.89879|0.89879	0.561000|0.561000	0.74099|0.74099	GCC|GGC	GCAT	-	pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase_major_dom,tigrfam_2am3keto_CoA_ligase		0.572	GCAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GCAT	HGNC	protein_coding	OTTHUMT00000319506.1	G	NM_014291.2		38206067	+1	no_errors	ENST00000248924	ensembl	human	known	70_37	missense	SNP	1.000	A
GCDH	2639	genome.wustl.edu	37	19	13008169	13008169	+	Missense_Mutation	SNP	G	G	T			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr19:13008169G>T	ENST00000222214.5	+	10	1220	c.1009G>T	c.(1009-1011)Gca>Tca	p.A337S	GCDH_ENST00000422947.2_Missense_Mutation_p.A293S|GCDH_ENST00000457854.1_Missense_Mutation_p.A337S|GCDH_ENST00000591470.1_Missense_Mutation_p.A337S			Q92947	GCDH_HUMAN	glutaryl-CoA dehydrogenase	337					cellular nitrogen compound metabolic process (GO:0034641)|fatty acid oxidation (GO:0019395)|fatty-acyl-CoA biosynthetic process (GO:0046949)|lysine catabolic process (GO:0006554)|small molecule metabolic process (GO:0044281)|tryptophan metabolic process (GO:0006568)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	fatty-acyl-CoA binding (GO:0000062)|flavin adenine dinucleotide binding (GO:0050660)|glutaryl-CoA dehydrogenase activity (GO:0004361)			autonomic_ganglia(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(8)	19					Flavin adenine dinucleotide(DB03147)	GAAGAAGCTGGCAGACATGCT	0.617																																					GBM(123;875 1636 7726 16444 26754)												0													55.0	44.0	48.0					19																	13008169		2203	4300	6503	SO:0001583	missense	2639			AF012342	CCDS12286.1	19p13.2	2010-04-30	2010-04-30			ENSG00000105607	1.3.99.7		4189	protein-coding gene	gene with protein product		608801	"""glutaryl-Coenzyme A dehydrogenase"""			1438360, 8088809	Standard	NM_000159		Approved	ACAD5	uc002mvq.4	Q92947		ENST00000222214.5:c.1009G>T	19.37:g.13008169G>T	ENSP00000222214:p.Ala337Ser	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K2Z2|O14719	Missense_Mutation	SNP	pfam_Acyl-CoA_Oxase/DH_1,pfam_Acyl-CoA_DH_N,pfam_Acyl-CoA_Oxase/DH_cen-dom,pfam_Acyl-CoA_DH_2_C,superfamily_AcylCoA_DH/oxidase,superfamily_AcylCo_DH/oxidase_C	p.A337S	ENST00000222214.5	37	c.1009	CCDS12286.1	19	.	.	.	.	.	.	.	.	.	.	G	27.5	4.841571	0.91197	.	.	ENSG00000105607	ENST00000457854;ENST00000222214;ENST00000421816;ENST00000422947	D;D;D	0.97772	-4.53;-4.53;-4.53	5.17	5.17	0.71159	Acyl-CoA dehydrogenase/oxidase C-terminal (2);Acyl-CoA oxidase/dehydrogenase, type 1 (1);	0.050516	0.85682	D	0.000000	D	0.99105	0.9692	H	0.95079	3.62	0.80722	D	1	P;D;D;D;D	0.89917	0.933;0.971;1.0;0.999;0.974	P;P;D;D;D	0.79108	0.864;0.823;0.992;0.989;0.955	D	0.99264	1.0891	10	0.87932	D	0	.	16.5109	0.84284	0.0:0.0:1.0:0.0	.	293;173;304;337;337	B4DK85;B4DUY0;B4DQF2;Q92947;Q92947-2	.;.;.;GCDH_HUMAN;.	S	337;337;304;293	ENSP00000394872:A337S;ENSP00000222214:A337S;ENSP00000394821:A293S	ENSP00000222214:A337S	A	+	1	0	GCDH	12869169	1.000000	0.71417	0.994000	0.49952	0.818000	0.46254	9.369000	0.97156	2.575000	0.86900	0.563000	0.77884	GCA	GCDH	-	pfam_Acyl-CoA_Oxase/DH_1,pfam_Acyl-CoA_DH_2_C,superfamily_AcylCo_DH/oxidase_C		0.617	GCDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GCDH	HGNC	protein_coding	OTTHUMT00000451897.1	G			13008169	+1	no_errors	ENST00000222214	ensembl	human	known	70_37	missense	SNP	1.000	T
GDA	9615	genome.wustl.edu	37	9	74834422	74834422	+	Splice_Site	SNP	C	C	T			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr9:74834422C>T	ENST00000358399.3	+	6	699	c.606C>T	c.(604-606)aaC>aaT	p.N202N	GDA_ENST00000477618.1_3'UTR|GDA_ENST00000545168.1_Splice_Site_p.N128N|GDA_ENST00000238018.4_Splice_Site_p.N202N|GDA_ENST00000376989.3_Splice_Site_p.N177N|GDA_ENST00000376986.1_Splice_Site_p.N160N	NM_001242505.2|NM_001242506.2|NM_004293.4	NP_001229434.1|NP_001229435.1|NP_004284.1	Q9Y2T3	GUAD_HUMAN	guanine deaminase	202					guanine catabolic process (GO:0006147)|nervous system development (GO:0007399)|nucleobase-containing compound metabolic process (GO:0006139)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide catabolic process (GO:0006195)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)	guanine deaminase activity (GO:0008892)|zinc ion binding (GO:0008270)			central_nervous_system(4)|endometrium(1)|kidney(1)|large_intestine(1)|lung(20)|ovary(2)|skin(2)|urinary_tract(1)	32		Myeloproliferative disorder(762;0.0122)		Lung(182;0.0583)		TCCAAAAGAACGTGAGTAACT	0.328																																																	0													115.0	107.0	110.0					9																	74834422		2202	4300	6502	SO:0001630	splice_region_variant	9615			AF095286	CCDS6641.1, CCDS56576.1, CCDS56577.1	9q21.13	2008-05-14			ENSG00000119125	ENSG00000119125			4212	protein-coding gene	gene with protein product		139260				10075721, 3966794	Standard	NM_001242507		Approved		uc004air.3	Q9Y2T3	OTTHUMG00000020005	ENST00000358399.3:c.606+1C>T	9.37:g.74834422C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B4DTY5|Q5SZC7|Q9H335|Q9ULG2	Silent	SNP	pfam_Amidohydro_1,tigrfam_Guanine_deaminase	p.N202	ENST00000358399.3	37	c.606	CCDS6641.1	9																																																																																			GDA	-	pfam_Amidohydro_1,tigrfam_Guanine_deaminase		0.328	GDA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GDA	HGNC	protein_coding	OTTHUMT00000052633.1	C		Silent	74834422	+1	no_errors	ENST00000238018	ensembl	human	known	70_37	silent	SNP	0.161	T
GDI1	2664	genome.wustl.edu	37	X	153670149	153670149	+	Intron	SNP	G	G	T			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chrX:153670149G>T	ENST00000447750.2	+	8	1326				GDI1_ENST00000465640.1_3'UTR|FAM50A_ENST00000393600.3_5'Flank	NM_001493.2	NP_001484.1	P31150	GDIA_HUMAN	GDP dissociation inhibitor 1						negative regulation of axonogenesis (GO:0050771)|negative regulation of protein targeting to membrane (GO:0090315)|protein transport (GO:0015031)|Rab protein signal transduction (GO:0032482)|regulation of catalytic activity (GO:0050790)|regulation of small GTPase mediated signal transduction (GO:0051056)|response to calcium ion (GO:0051592)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|midbody (GO:0030496)|neuron projection (GO:0043005)|protein complex (GO:0043234)	GDP-dissociation inhibitor activity (GO:0005092)|GTPase activator activity (GO:0005096)|Rab GDP-dissociation inhibitor activity (GO:0005093)			autonomic_ganglia(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	16	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					CAGGTAGGCCGGGCGCTGGTA	0.512																																																	0													91.0	81.0	85.0					X																	153670149		2203	4300	6503	SO:0001627	intron_variant	2664			X79353	CCDS35452.1	Xq28	2008-08-01			ENSG00000203879	ENSG00000203879			4226	protein-coding gene	gene with protein product	"""mental retardation, X-linked 41"", ""mental retardation, X-linked 48"", ""rab GDP-dissociation inhibitor, alpha"""	300104		MRX48, MRX41, GDIL		7543319, 7849400	Standard	NM_001493		Approved	RABGDIA, XAP-4, OPHN2, FLJ41411	uc004fli.4	P31150	OTTHUMG00000033293	ENST00000447750.2:c.991+8G>T	X.37:g.153670149G>T		Somatic		WXS	Illumina HiSeq	Phase_IV	P50394|Q6FG50|Q7Z2G6|Q7Z2G9|Q7Z2H5|Q7Z2I6	RNA	SNP	-	NULL	ENST00000447750.2	37	NULL	CCDS35452.1	X																																																																																			GDI1	-	-		0.512	GDI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GDI1	HGNC	protein_coding	OTTHUMT00000081649.2	G	NM_001493		153670149	+1	no_errors	ENST00000465640	ensembl	human	known	70_37	rna	SNP	0.000	T
GFOD1	54438	genome.wustl.edu	37	6	13365254	13365254	+	Silent	SNP	G	G	T			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr6:13365254G>T	ENST00000379287.3	-	2	1558	c.894C>A	c.(892-894)atC>atA	p.I298I	GFOD1_ENST00000379284.1_Silent_p.I195I	NM_018988.3	NP_061861.1	Q9NXC2	GFOD1_HUMAN	glucose-fructose oxidoreductase domain containing 1	298						extracellular region (GO:0005576)	oxidoreductase activity (GO:0016491)			central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(6)|ovary(2)	18	Breast(50;0.0296)|Ovarian(93;0.0454)	all_hematologic(90;0.135)	Epithelial(50;0.0348)|BRCA - Breast invasive adenocarcinoma(129;0.1)|all cancers(50;0.108)			AGGGCGAGGGGATGTCGCTGA	0.692																																																	0													50.0	52.0	51.0					6																	13365254		2203	4300	6503	SO:0001819	synonymous_variant	54438			AK000337	CCDS4524.1, CCDS56397.1, CCDS64351.1	6p24.1-p23	2013-09-19			ENSG00000145990	ENSG00000145990			21096	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 114"""	C6orf114			Standard	NM_018988		Approved	FLJ20330, ADG-90	uc003nat.2	Q9NXC2	OTTHUMG00000014276	ENST00000379287.3:c.894C>A	6.37:g.13365254G>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A8E4L6|Q5T058|Q96JD4|Q9H5K2	Silent	SNP	pfam_Oxidoreductase_N,pfam_OxRdtase_C	p.I298	ENST00000379287.3	37	c.894	CCDS4524.1	6																																																																																			GFOD1	-	NULL		0.692	GFOD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GFOD1	HGNC	protein_coding	OTTHUMT00000039902.1	G	NM_018988		13365254	-1	no_errors	ENST00000379287	ensembl	human	known	70_37	silent	SNP	1.000	T
GHDC	84514	genome.wustl.edu	37	17	40342753	40342753	+	Nonsense_Mutation	SNP	G	G	A	rs374649329		TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr17:40342753G>A	ENST00000301671.8	-	7	1618	c.1177C>T	c.(1177-1179)Cga>Tga	p.R393*	GHDC_ENST00000414034.3_Nonsense_Mutation_p.R393*|GHDC_ENST00000428494.2_Nonsense_Mutation_p.R354*|GHDC_ENST00000587427.1_Nonsense_Mutation_p.R393*|GHDC_ENST00000436923.2_Nonsense_Mutation_p.R393*|GHDC_ENST00000593209.1_Nonsense_Mutation_p.R393*|GHDC_ENST00000590520.1_5'Flank			Q8N2G8	GHDC_HUMAN	GH3 domain containing	393						endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nucleus (GO:0005634)				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13		all_cancers(22;0.000229)|Breast(137;0.00104)|all_epithelial(22;0.00304)		BRCA - Breast invasive adenocarcinoma(366;0.124)		TCTTCCCCTCGCACACTCAGG	0.647																																																	0													69.0	70.0	70.0					17																	40342753		2203	4300	6503	SO:0001587	stop_gained	84514			AF316997, BC011056	CCDS11422.1, CCDS45682.1	17q21.2	2006-08-02				ENSG00000167925			24438	protein-coding gene	gene with protein product		608587				11161808, 11735219	Standard	NR_024573		Approved	LGP1	uc002hzf.4	Q8N2G8		ENST00000301671.8:c.1177C>T	17.37:g.40342753G>A	ENSP00000301671:p.Arg393*	Somatic		WXS	Illumina HiSeq	Phase_IV	B4DQS4|E9PDB5|Q9BXM6	Nonsense_Mutation	SNP	pfam_GH3	p.R393*	ENST00000301671.8	37	c.1177	CCDS11422.1	17	.	.	.	.	.	.	.	.	.	.	G	29.8	5.034451	0.93575	.	.	ENSG00000167925	ENST00000393854;ENST00000428494;ENST00000414034;ENST00000301671;ENST00000436923	.	.	.	4.18	2.15	0.27550	.	0.000000	0.64402	D	0.000002	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.13853	T	0.58	-0.9572	4.905	0.13793	0.0851:0.1469:0.6165:0.1515	.	.	.	.	X	337;354;393;393;393	.	ENSP00000301671:R393X	R	-	1	2	GHDC	37596279	0.978000	0.34361	0.838000	0.33150	0.506000	0.33950	2.458000	0.45014	0.391000	0.25143	0.561000	0.74099	CGA	GHDC	-	pfam_GH3		0.647	GHDC-006	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	GHDC	HGNC	protein_coding	OTTHUMT00000449794.1	G	NM_032484		40342753	-1	no_errors	ENST00000301671	ensembl	human	known	70_37	nonsense	SNP	0.988	A
GINS2	51659	genome.wustl.edu	37	16	85711932	85711932	+	Silent	SNP	C	C	T			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr16:85711932C>T	ENST00000253462.3	-	5	544	c.444G>A	c.(442-444)ttG>ttA	p.L148L		NM_016095.2	NP_057179.1	Q9Y248	PSF2_HUMAN	GINS complex subunit 2 (Psf2 homolog)	148					DNA strand elongation involved in DNA replication (GO:0006271)|mitotic cell cycle (GO:0000278)	nucleoplasm (GO:0005654)				endometrium(2)|large_intestine(2)|lung(2)	6						CCATCAAGGTCAAGTTATCCA	0.433																																																	0													87.0	82.0	84.0					16																	85711932		2198	4300	6498	SO:0001819	synonymous_variant	51659			BC003186	CCDS10953.1	16q24.1	2008-02-05			ENSG00000131153	ENSG00000131153			24575	protein-coding gene	gene with protein product		610609				11042152, 10810093	Standard	NM_016095		Approved	PSF2, Pfs2	uc002fja.3	Q9Y248	OTTHUMG00000137646	ENST00000253462.3:c.444G>A	16.37:g.85711932C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	D3DUM5|Q6IAG9	Silent	SNP	pfam_GINS_complex,pirsf_GINS_Psf2_subgr	p.L148	ENST00000253462.3	37	c.444	CCDS10953.1	16																																																																																			GINS2	-	pfam_GINS_complex,pirsf_GINS_Psf2_subgr		0.433	GINS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GINS2	HGNC	protein_coding	OTTHUMT00000269098.1	C	NM_016095		85711932	-1	no_errors	ENST00000253462	ensembl	human	known	70_37	silent	SNP	1.000	T
GLMN	11146	genome.wustl.edu	37	1	92713518	92713518	+	Missense_Mutation	SNP	A	A	C			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr1:92713518A>C	ENST00000370360.3	-	17	1583	c.1502T>G	c.(1501-1503)aTt>aGt	p.I501S	GLMN_ENST00000534881.1_Missense_Mutation_p.I487S	NM_053274.2	NP_444504.1	Q92990	GLMN_HUMAN	glomulin, FKBP associated protein	501					muscle cell differentiation (GO:0042692)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of T cell proliferation (GO:0042130)|neural tube closure (GO:0001843)|positive regulation of cytokine secretion (GO:0050715)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of phosphorylation (GO:0042327)|regulation of gene expression, epigenetic (GO:0040029)|regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032434)|vasculogenesis (GO:0001570)	Cul2-RING ubiquitin ligase complex (GO:0031462)|Cul3-RING ubiquitin ligase complex (GO:0031463)|Cul4A-RING E3 ubiquitin ligase complex (GO:0031464)|cullin-RING ubiquitin ligase complex (GO:0031461)|intracellular (GO:0005622)	hepatocyte growth factor receptor binding (GO:0005171)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase inhibitor activity (GO:0055105)			endometrium(5)|kidney(1)|large_intestine(2)|lung(7)|pancreas(1)|skin(1)	17		all_lung(203;0.00827)|Lung NSC(277;0.0295)		all cancers(265;0.00702)|GBM - Glioblastoma multiforme(16;0.0381)|Epithelial(280;0.0989)		ATTATTCTCAATATTTCCAAG	0.308									Multiple Glomus Tumors (of the Skin), Familial																																								0													93.0	98.0	96.0					1																	92713518		2202	4290	6492	SO:0001583	missense	11146	Familial Cancer Database	Multiple Familial Glomangiomas, Hereditary Multiple Glomus Tumors, Familial Multiple Glomangiomatosis, Inherited Cutaneous Venous Anomalies, incl. Familial Multiple Glomangiomyoma	U73704	CCDS738.1	1p22.1	2008-02-05	2004-07-01		ENSG00000174842	ENSG00000174842			14373	protein-coding gene	gene with protein product		601749	"""venous malformation with glomus cells"""	VMGLOM		8955134	Standard	XM_005270400		Approved	FAP48, GLML, GVM, FKBPAP	uc001dor.3	Q92990	OTTHUMG00000010283	ENST00000370360.3:c.1502T>G	1.37:g.92713518A>C	ENSP00000359385:p.Ile501Ser	Somatic		WXS	Illumina HiSeq	Phase_IV	Q5VVC3|Q9BVE8	Missense_Mutation	SNP	pfam_YAP-bd/Alf4/glomulin	p.I501S	ENST00000370360.3	37	c.1502	CCDS738.1	1	.	.	.	.	.	.	.	.	.	.	A	20.2	3.956177	0.73902	.	.	ENSG00000174842	ENST00000370360;ENST00000534881	T;T	0.51574	0.7;0.7	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.62901	0.2466	M	0.70275	2.135	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.77557	0.99;0.984	T	0.67273	-0.5712	10	0.87932	D	0	-8.9665	16.8222	0.85835	1.0:0.0:0.0:0.0	.	487;501	B4DJ85;Q92990	.;GLMN_HUMAN	S	501;487	ENSP00000359385:I501S;ENSP00000440156:I487S	ENSP00000359385:I501S	I	-	2	0	GLMN	92486106	1.000000	0.71417	1.000000	0.80357	0.791000	0.44710	7.381000	0.79718	2.371000	0.80710	0.533000	0.62120	ATT	GLMN	-	pfam_YAP-bd/Alf4/glomulin		0.308	GLMN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GLMN	HGNC	protein_coding	OTTHUMT00000028358.1	A	NM_007070		92713518	-1	no_errors	ENST00000370360	ensembl	human	known	70_37	missense	SNP	1.000	C
GLO1	2739	genome.wustl.edu	37	6	38645133	38645133	+	Missense_Mutation	SNP	G	G	C			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr6:38645133G>C	ENST00000373365.4	-	6	579	c.493C>G	c.(493-495)Caa>Gaa	p.Q165E	GLO1_ENST00000470973.1_5'UTR	NM_006708.2	NP_006699.2	Q04760	LGUL_HUMAN	glyoxalase I	165					carbohydrate metabolic process (GO:0005975)|glutathione metabolic process (GO:0006749)|methylglyoxal metabolic process (GO:0009438)|negative regulation of apoptotic process (GO:0043066)|osteoclast differentiation (GO:0030316)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	lactoylglutathione lyase activity (GO:0004462)|zinc ion binding (GO:0008270)			lung(2)|ovary(2)|prostate(1)|urinary_tract(1)	6					Glutathione(DB00143)|Indomethacin(DB00328)	TCAGGATCTTGAATAAATGCC	0.313																																																	0													74.0	76.0	75.0					6																	38645133		2203	4300	6503	SO:0001583	missense	2739			L07837	CCDS4837.1	6p21.3-p21.1	2012-10-02			ENSG00000124767	ENSG00000124767	4.4.1.5		4323	protein-coding gene	gene with protein product	"""glyoxalase domain containing 1"""	138750				8449929, 7684374	Standard	NM_006708		Approved	GLOD1	uc003ooc.3	Q04760	OTTHUMG00000014636	ENST00000373365.4:c.493C>G	6.37:g.38645133G>C	ENSP00000362463:p.Gln165Glu	Somatic		WXS	Illumina HiSeq	Phase_IV	B2R6P7|B4DDV0|P78375|Q59EL0|Q5TZW3|Q96FC0|Q96J41	Missense_Mutation	SNP	pfam_Glyas_Fos-R_dOase_dom,tigrfam_Glyoxalase_1	p.Q165E	ENST00000373365.4	37	c.493	CCDS4837.1	6	.	.	.	.	.	.	.	.	.	.	G	23.6	4.432960	0.83776	.	.	ENSG00000124767	ENST00000373365	T	0.68025	-0.3	5.92	5.92	0.95590	Glyoxalase/fosfomycin resistance/dioxygenase (1);	0.000000	0.85682	D	0.000000	T	0.53222	0.1783	N	0.20766	0.605	0.80722	D	1	P	0.39216	0.664	B	0.43990	0.438	T	0.61417	-0.7067	10	0.72032	D	0.01	-36.841	20.3206	0.98668	0.0:0.0:1.0:0.0	.	165	Q04760	LGUL_HUMAN	E	165	ENSP00000362463:Q165E	ENSP00000362463:Q165E	Q	-	1	0	GLO1	38753111	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.844000	0.75390	2.809000	0.96659	0.655000	0.94253	CAA	GLO1	-	pfam_Glyas_Fos-R_dOase_dom,tigrfam_Glyoxalase_1		0.313	GLO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GLO1	HGNC	protein_coding	OTTHUMT00000040438.2	G	NM_006708		38645133	-1	no_errors	ENST00000373365	ensembl	human	known	70_37	missense	SNP	1.000	C
GLS2	27165	genome.wustl.edu	37	12	56873669	56873669	+	Missense_Mutation	SNP	C	C	G			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr12:56873669C>G	ENST00000311966.4	-	3	577	c.299G>C	c.(298-300)gGa>gCa	p.G100A	GLS2_ENST00000539272.1_Missense_Mutation_p.G100A|GLS2_ENST00000476991.1_5'Flank	NM_013267.2	NP_037399.2	Q9UI32	GLSL_HUMAN	glutaminase 2 (liver, mitochondrial)	100					cellular amino acid biosynthetic process (GO:0008652)|cellular amino acid metabolic process (GO:0006520)|cellular nitrogen compound metabolic process (GO:0034641)|glutamate secretion (GO:0014047)|glutamine metabolic process (GO:0006541)|neurotransmitter secretion (GO:0007269)|reactive oxygen species metabolic process (GO:0072593)|regulation of apoptotic process (GO:0042981)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	glutaminase activity (GO:0004359)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|stomach(1)|urinary_tract(1)	13					L-Glutamine(DB00130)	TGTCTGCAGTCCAGTGGCCTT	0.522																																																	0													79.0	68.0	72.0					12																	56873669		2203	4300	6503	SO:0001583	missense	27165				CCDS8921.1, CCDS73482.1	12q13	2013-01-10			ENSG00000135423	ENSG00000135423		"""Ankyrin repeat domain containing"""	29570	protein-coding gene	gene with protein product		606365				11130979, 10620514	Standard	NM_013267		Approved	GA, GLS, LGA, hLGA	uc001slj.3	Q9UI32	OTTHUMG00000140379	ENST00000311966.4:c.299G>C	12.37:g.56873669C>G	ENSP00000310447:p.Gly100Ala	Somatic		WXS	Illumina HiSeq	Phase_IV	B7Z8Q9|Q8IX91|Q9NYY2|Q9UI31	Missense_Mutation	SNP	pfam_Glutaminase,pfam_Ankyrin_rpt,superfamily_Beta-lactam/transpept-like,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,tigrfam_Glutaminase	p.G100A	ENST00000311966.4	37	c.299	CCDS8921.1	12	.	.	.	.	.	.	.	.	.	.	C	28.8	4.949006	0.92660	.	.	ENSG00000135423	ENST00000311966;ENST00000461077;ENST00000539272	T	0.73789	-0.78	4.98	4.98	0.66077	.	0.050381	0.85682	D	0.000000	D	0.85487	0.5708	M	0.71036	2.16	0.80722	D	1	D	0.76494	0.999	D	0.75484	0.986	D	0.86746	0.1957	10	0.87932	D	0	-0.0314	17.5513	0.87876	0.0:1.0:0.0:0.0	.	100	Q9UI32	GLSL_HUMAN	A	100	ENSP00000310447:G100A	ENSP00000310447:G100A	G	-	2	0	GLS2	55159936	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	7.189000	0.77747	2.758000	0.94735	0.655000	0.94253	GGA	GLS2	-	NULL		0.522	GLS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GLS2	HGNC	protein_coding	OTTHUMT00000277113.1	C	NM_013267		56873669	-1	no_errors	ENST00000311966	ensembl	human	known	70_37	missense	SNP	1.000	G
GMFG	9535	genome.wustl.edu	37	19	39819686	39819686	+	Missense_Mutation	SNP	T	T	C			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr19:39819686T>C	ENST00000597595.1	-	6	519	c.311A>G	c.(310-312)tAt>tGt	p.Y104C	GMFG_ENST00000594700.1_Intron|GMFG_ENST00000595636.1_Silent_p.V76V|GMFG_ENST00000253054.8_Missense_Mutation_p.Y71C|GMFG_ENST00000601387.1_Missense_Mutation_p.Y63C|GMFG_ENST00000602185.1_Missense_Mutation_p.Y55C|GMFG_ENST00000600322.1_Missense_Mutation_p.Y71C|GMFG_ENST00000598034.1_Missense_Mutation_p.Y104C	NM_004877.2	NP_004868.1	O60234	GMFG_HUMAN	glia maturation factor, gamma	104	ADF-H. {ECO:0000255|PROSITE- ProRule:PRU00599}.				negative regulation of protein kinase activity (GO:0006469)|positive regulation of catalytic activity (GO:0043085)|protein phosphorylation (GO:0006468)	intracellular (GO:0005622)	enzyme activator activity (GO:0008047)|protein kinase inhibitor activity (GO:0004860)			breast(1)|large_intestine(2)|liver(2)|lung(3)|skin(1)|stomach(1)	10	all_cancers(60;2.5e-07)|all_lung(34;4.03e-08)|Lung NSC(34;4.66e-08)|all_epithelial(25;6.4e-07)|Ovarian(47;0.0512)		Epithelial(26;1.15e-27)|all cancers(26;1.3e-24)|Lung(45;0.000278)|LUSC - Lung squamous cell carcinoma(53;0.000335)			ACTCCCTGCATACATCATCTG	0.542																																																	0													170.0	139.0	150.0					19																	39819686		2203	4300	6503	SO:0001583	missense	9535			AB001993	CCDS12532.1, CCDS74364.1	19q13.2	2014-08-12			ENSG00000130755	ENSG00000130755			4374	protein-coding gene	gene with protein product		604104				9545571, 9653160, 17127212	Standard	XM_005259440		Approved		uc002okz.4	O60234	OTTHUMG00000182811	ENST00000597595.1:c.311A>G	19.37:g.39819686T>C	ENSP00000472249:p.Tyr104Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q6IB37	Missense_Mutation	SNP	pfam_Actin-bd_cofilin/tropomyosin,smart_Actin-bd_cofilin/tropomyosin,pirsf_GMF-beta	p.Y104C	ENST00000597595.1	37	c.311	CCDS12532.1	19	.	.	.	.	.	.	.	.	.	.	T	20.6	4.018997	0.75275	.	.	ENSG00000130755	ENST00000253054	.	.	.	5.44	5.44	0.79542	Actin-binding, cofilin/tropomyosin type (3);	0.077961	0.51477	D	0.000086	D	0.86543	0.5958	H	0.95151	3.63	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.98	D	0.90259	0.4299	9	0.87932	D	0	-10.0301	13.4296	0.61046	0.0:0.0:0.0:1.0	.	104;104	O60234;Q6IB37	GMFG_HUMAN;.	C	104	.	ENSP00000253054:Y104C	Y	-	2	0	GMFG	44511526	1.000000	0.71417	0.984000	0.44739	0.861000	0.49209	7.061000	0.76699	2.047000	0.60756	0.533000	0.62120	TAT	GMFG	-	pfam_Actin-bd_cofilin/tropomyosin,smart_Actin-bd_cofilin/tropomyosin,pirsf_GMF-beta		0.542	GMFG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GMFG	HGNC	protein_coding	OTTHUMT00000463839.1	T			39819686	-1	no_errors	ENST00000597595	ensembl	human	known	70_37	missense	SNP	1.000	C
GNB1L	54584	genome.wustl.edu	37	22	19776198	19776198	+	3'UTR	SNP	G	G	A			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr22:19776198G>A	ENST00000329517.6	-	0	1254				GNB1L_ENST00000460402.1_5'UTR|GNB1L_ENST00000403325.1_3'UTR|GNB1L_ENST00000405009.1_Intron	NM_053004.2	NP_443730.1	Q9BYB4	GNB1L_HUMAN	guanine nucleotide binding protein (G protein), beta polypeptide 1-like						G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|social behavior (GO:0035176)	cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)				breast(1)|kidney(1)|large_intestine(2)|lung(4)|prostate(3)|skin(1)	12	Colorectal(54;0.0993)					CTCCCTGCCCGCCCTCCTCGT	0.657																																																	0													35.0	34.0	35.0					22																	19776198		2194	4279	6473	SO:0001624	3_prime_UTR_variant	54584			AF238328	CCDS13768.1	22q11.2	2013-05-21			ENSG00000185838	ENSG00000185838		"""WD repeat domain containing"""	4397	protein-coding gene	gene with protein product		610778				11072084	Standard	NM_053004		Approved	GY2, WDR14	uc002zqf.1	Q9BYB4	OTTHUMG00000150279	ENST00000329517.6:c.*34C>T	22.37:g.19776198G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q9H2S2|Q9H4M4	RNA	SNP	-	NULL	ENST00000329517.6	37	NULL	CCDS13768.1	22																																																																																			GNB1L	-	-		0.657	GNB1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GNB1L	HGNC	protein_coding	OTTHUMT00000075202.1	G			19776198	-1	no_errors	ENST00000460402	ensembl	human	known	70_37	rna	SNP	0.000	A
GNG5P2	347687	genome.wustl.edu	37	X	109590048	109590048	+	Silent	SNP	C	C	T			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chrX:109590048C>T	ENST00000372054.1	-	1	153	c.90G>A	c.(88-90)caG>caA	p.Q30Q	AMMECR1_ENST00000372057.1_Intron					guanine nucleotide binding protein (G protein), gamma 5 pseudogene 2																		CTGCAGCTGCCTGGGAAACTT	0.527																																																	0																																										SO:0001819	synonymous_variant	347687					Xq22.3	2008-11-05			ENSG00000133136	ENSG00000133136			24826	pseudogene	pseudogene						10819326	Standard	NG_002699		Approved				OTTHUMG00000022193	ENST00000372054.1:c.90G>A	X.37:g.109590048C>T		Somatic		WXS	Illumina HiSeq	Phase_IV		Silent	SNP	pfam_G-protein_gamma-like_dom,superfamily_G-protein_gamma-like_dom,smart_G-protein_gamma-like_dom,pfscan_G-protein_gamma-like_dom,prints_Gprotein-gamma	p.Q30	ENST00000372054.1	37	c.90		X																																																																																			GNG5P2	-	pfam_G-protein_gamma-like_dom,superfamily_G-protein_gamma-like_dom,smart_G-protein_gamma-like_dom,pfscan_G-protein_gamma-like_dom,prints_Gprotein-gamma		0.527	GNG5P2-001	KNOWN	basic|appris_principal	protein_coding	GNG5P2	HGNC	protein_coding	OTTHUMT00000057903.1	C	NG_002699		109590048	-1	no_errors	ENST00000372054	ensembl	human	known	70_37	silent	SNP	1.000	T
GNG5P2	347687	genome.wustl.edu	37	X	109590054	109590054	+	Silent	SNP	A	A	C			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chrX:109590054A>C	ENST00000372054.1	-	1	147	c.84T>G	c.(82-84)gtT>gtG	p.V28V	AMMECR1_ENST00000372057.1_Intron					guanine nucleotide binding protein (G protein), gamma 5 pseudogene 2																		CTGCCTGGGAAACTTTTACGC	0.547																																																	0																																										SO:0001819	synonymous_variant	347687					Xq22.3	2008-11-05			ENSG00000133136	ENSG00000133136			24826	pseudogene	pseudogene						10819326	Standard	NG_002699		Approved				OTTHUMG00000022193	ENST00000372054.1:c.84T>G	X.37:g.109590054A>C		Somatic		WXS	Illumina HiSeq	Phase_IV		Silent	SNP	pfam_G-protein_gamma-like_dom,superfamily_G-protein_gamma-like_dom,smart_G-protein_gamma-like_dom,pfscan_G-protein_gamma-like_dom,prints_Gprotein-gamma	p.V28	ENST00000372054.1	37	c.84		X																																																																																			GNG5P2	-	pfam_G-protein_gamma-like_dom,superfamily_G-protein_gamma-like_dom,smart_G-protein_gamma-like_dom,pfscan_G-protein_gamma-like_dom,prints_Gprotein-gamma		0.547	GNG5P2-001	KNOWN	basic|appris_principal	protein_coding	GNG5P2	HGNC	protein_coding	OTTHUMT00000057903.1	A	NG_002699		109590054	-1	no_errors	ENST00000372054	ensembl	human	known	70_37	silent	SNP	1.000	C
GNL2	29889	genome.wustl.edu	37	1	38061361	38061361	+	Splice_Site	SNP	T	T	A			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr1:38061361T>A	ENST00000373062.3	-	1	161	c.63A>T	c.(61-63)ccA>ccT	p.P21P		NM_013285.2	NP_037417.1	Q13823	NOG2_HUMAN	guanine nucleotide binding protein-like 2 (nucleolar)	21					GTP catabolic process (GO:0006184)|ribosome biogenesis (GO:0042254)	membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|ovary(2)|prostate(3)|skin(1)|urinary_tract(1)	30		Myeloproliferative disorder(586;0.0393)				CGCCTGTACCTGGGTTTGTGC	0.617																																																	0													126.0	101.0	110.0					1																	38061361		2203	4300	6503	SO:0001630	splice_region_variant	29889			L05425	CCDS421.1	1p34	2008-02-05			ENSG00000134697	ENSG00000134697			29925	protein-coding gene	gene with protein product		609365				8822211	Standard	NM_013285		Approved	Ngp-1, HUMAUANTIG	uc001cbk.3	Q13823	OTTHUMG00000004322	ENST00000373062.3:c.64+1A>T	1.37:g.38061361T>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q9BWN7	Silent	SNP	pfam_NOG2_N_dom,pfam_GTP_binding_domain,prints_GTP_binding_domain	p.P21	ENST00000373062.3	37	c.63	CCDS421.1	1																																																																																			GNL2	-	NULL		0.617	GNL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GNL2	HGNC	protein_coding	OTTHUMT00000012478.1	T	NM_013285	Silent	38061361	-1	no_errors	ENST00000373062	ensembl	human	known	70_37	silent	SNP	0.460	A
GNL3	26354	genome.wustl.edu	37	3	52723096	52723096	+	Missense_Mutation	SNP	G	G	A			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr3:52723096G>A	ENST00000418458.1	+	6	588	c.415G>A	c.(415-417)Gaa>Aaa	p.E139K	SNORD19_ENST00000391191.1_RNA|SNORD19B_ENST00000459623.1_RNA|SNORD19B_ENST00000516978.1_RNA|SNORD19_ENST00000410413.1_RNA|GNL3_ENST00000394799.2_Missense_Mutation_p.E127K	NM_014366.4|NM_206826.1	NP_055181.3|NP_996562.1	Q9BVP2	GNL3_HUMAN	guanine nucleotide binding protein-like 3 (nucleolar)	139	CP-type G. {ECO:0000255|PROSITE- ProRule:PRU01058}.				cell proliferation (GO:0008283)|GTP catabolic process (GO:0006184)|regulation of cell proliferation (GO:0042127)|ribosome biogenesis (GO:0042254)	extracellular space (GO:0005615)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)			breast(4)|endometrium(3)|large_intestine(3)|lung(2)	12				BRCA - Breast invasive adenocarcinoma(193;6.75e-05)|Kidney(197;0.000611)|KIRC - Kidney renal clear cell carcinoma(197;0.000773)|OV - Ovarian serous cystadenocarcinoma(275;0.048)		ATAGGTGATTGAAGCCTCCGA	0.438																																																	0													190.0	186.0	187.0					3																	52723096		2203	4300	6503	SO:0001583	missense	26354			AK027514	CCDS2861.1, CCDS43100.1	3p21.1	2005-01-10			ENSG00000163938	ENSG00000163938			29931	protein-coding gene	gene with protein product		608011				11085516, 12464630	Standard	NM_014366		Approved	C77032, E2IG3, MGC800, NS, nucleostemin	uc003dfd.3	Q9BVP2	OTTHUMG00000158752	ENST00000418458.1:c.415G>A	3.37:g.52723096G>A	ENSP00000395772:p.Glu139Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RDC1|Q5PU80|Q96SV6|Q96SV7|Q9UJY0	Missense_Mutation	SNP	pfam_Gnl3_N_dom,pfam_GTP_binding_domain	p.E139K	ENST00000418458.1	37	c.415	CCDS2861.1	3	.	.	.	.	.	.	.	.	.	.	G	18.53	3.643946	0.67244	.	.	ENSG00000163938	ENST00000479230;ENST00000418458;ENST00000394799	T;T;T	0.53640	0.61;2.54;2.54	5.55	4.67	0.58626	.	0.135748	0.64402	N	0.000003	T	0.45155	0.1328	L	0.48877	1.53	0.80722	D	1	B	0.23937	0.094	B	0.29524	0.103	T	0.42548	-0.9445	10	0.59425	D	0.04	.	14.2545	0.66043	0.072:0.0:0.928:0.0	.	139	Q9BVP2	GNL3_HUMAN	K	127;139;127	ENSP00000419734:E127K;ENSP00000395772:E139K;ENSP00000378278:E127K	ENSP00000378278:E127K	E	+	1	0	GNL3	52698136	1.000000	0.71417	0.779000	0.31741	0.926000	0.56050	7.590000	0.82653	1.326000	0.45319	0.655000	0.94253	GAA	GNL3	-	NULL		0.438	GNL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GNL3	HGNC	protein_coding	OTTHUMT00000352032.1	G	NM_014366		52723096	+1	no_errors	ENST00000418458	ensembl	human	known	70_37	missense	SNP	1.000	A
TTC41P	253724	genome.wustl.edu	37	12	104283274	104283274	+	IGR	SNP	C	C	T	rs372955717		TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr12:104283274C>T								RP11-650K20.3 (44832 upstream) : RP11-642P15.1 (24530 downstream)																							GGTGGCGTTGCGGAAGGCAGC	0.552																																																	0																																										SO:0001628	intergenic_variant	253724																															12.37:g.104283274C>T		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL		37	NULL		12																																																																																			RP11-642P15.1	-	-	0	0.552					GNN	Clone_based_vega_gene			C			104283274	-1	no_errors	ENST00000548520	ensembl	human	known	70_37	rna	SNP	0.993	T
GOLGB1	2804	genome.wustl.edu	37	3	121416739	121416739	+	Missense_Mutation	SNP	T	T	A			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr3:121416739T>A	ENST00000340645.5	-	13	2741	c.2616A>T	c.(2614-2616)gaA>gaT	p.E872D	GOLGB1_ENST00000393667.3_Missense_Mutation_p.E877D	NM_001256487.1|NM_001256488.1|NM_004487.4	NP_001243416.1|NP_001243417.1|NP_004478.3	Q14789	GOGB1_HUMAN	golgin B1	872					Golgi organization (GO:0007030)	cis-Golgi network (GO:0005801)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(7)|central_nervous_system(2)|cervix(2)|endometrium(12)|kidney(3)|large_intestine(26)|liver(2)|lung(36)|ovary(7)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(13)	119				GBM - Glioblastoma multiforme(114;0.0989)		TTATTTCAAGTTCCTTCTGTG	0.423																																																	0													141.0	147.0	145.0					3																	121416739		2203	4299	6502	SO:0001583	missense	2804			X75304	CCDS3004.1, CCDS58847.1, CCDS74989.1	3q13	2010-02-12	2010-02-12	2007-07-27	ENSG00000173230	ENSG00000173230			4429	protein-coding gene	gene with protein product	"""macrogolgin"", ""golgi integral membrane protein 1"""	602500	"""golgi autoantigen, golgin subfamily b, macrogolgin (with transmembrane signal), 1"", ""golgin B1, golgi integral membrane protein"""			7691276, 15004235	Standard	NM_001256486		Approved	GCP, GCP372, giantin, GOLIM1	uc010hrc.4	Q14789	OTTHUMG00000159411	ENST00000340645.5:c.2616A>T	3.37:g.121416739T>A	ENSP00000341848:p.Glu872Asp	Somatic		WXS	Illumina HiSeq	Phase_IV	B2ZZ91|D3DN92|E7EP74|Q14398	Missense_Mutation	SNP	superfamily_Prefoldin,superfamily_STAT_TF_coiled-coil,smart_Leu_zip_homeo	p.E872D	ENST00000340645.5	37	c.2616	CCDS3004.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	13.95|13.95	2.390673|2.390673	0.42410|0.42410	.|.	.|.	ENSG00000173230|ENSG00000173230	ENST00000340645;ENST00000393667;ENST00000494517;ENST00000426235|ENST00000489400	T;T;T|.	0.28666|.	2.2;2.2;1.6|.	5.35|5.35	4.16|4.16	0.48862|0.48862	.|.	0.103582|.	0.44285|.	D|.	0.000475|.	T|T	0.52191|0.52191	0.1719|0.1719	L|L	0.48362|0.48362	1.52|1.52	0.35662|0.35662	D|D	0.812631|0.812631	D;D;D;D;D|.	0.71674|.	0.998;0.996;0.998;0.996;0.998|.	D;D;D;D;P|.	0.77557|.	0.979;0.987;0.99;0.987;0.875|.	T|T	0.58999|0.58999	-0.7536|-0.7536	10|5	0.20046|.	T|.	0.44|.	.|.	9.635|9.635	0.39802|0.39802	0.0:0.083:0.0:0.9169|0.0:0.083:0.0:0.9169	.|.	797;836;877;877;872|.	F1T0J2;E7EU81;E7EP74;B2ZZ91;Q14789|.	.;.;.;.;GOGB1_HUMAN|.	D|I	872;877;836;684|743	ENSP00000341848:E872D;ENSP00000377275:E877D;ENSP00000418231:E836D|.	ENSP00000341848:E872D|.	E|N	-|-	3|2	2|0	GOLGB1|GOLGB1	122899429|122899429	0.000000|0.000000	0.05858|0.05858	0.997000|0.997000	0.53966|0.53966	0.993000|0.993000	0.82548|0.82548	-0.112000|-0.112000	0.10791|0.10791	1.006000|1.006000	0.39211|0.39211	0.533000|0.533000	0.62120|0.62120	GAA|AAC	GOLGB1	-	NULL		0.423	GOLGB1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	GOLGB1	HGNC	protein_coding	OTTHUMT00000355159.1	T	NM_004487		121416739	-1	no_errors	ENST00000340645	ensembl	human	known	70_37	missense	SNP	0.984	A
GOLM1	51280	genome.wustl.edu	37	9	88692354	88692354	+	Silent	SNP	G	G	A	rs371311723	byFrequency	TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr9:88692354G>A	ENST00000388712.3	-	3	450	c.282C>T	c.(280-282)agC>agT	p.S94S	GOLM1_ENST00000257504.6_5'UTR|GOLM1_ENST00000388711.3_Silent_p.S94S	NM_016548.3	NP_057632.2	Q8NBJ4	GOLM1_HUMAN	golgi membrane protein 1	94					nucleus organization (GO:0006997)|regulation of lipid metabolic process (GO:0019216)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)				breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)	17						GCTTGTTGACGCTCTCCAGCT	0.527													G|||	3	0.000599042	0.0	0.0043	5008	,	,		18918	0.0		0.0	False		,,,				2504	0.0																0								G	,	0,4406		0,0,2203	128.0	111.0	117.0		282,282	-10.2	0.1	9		117	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	GOLM1	NM_016548.3,NM_177937.2	,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,	94/402,94/402	88692354	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	51280			AF236056	CCDS35054.1	9q21.33	2012-12-13	2007-07-30	2007-07-30	ENSG00000135052	ENSG00000135052			15451	protein-coding gene	gene with protein product		606804	"""golgi phosphoprotein 2"", ""chromosome 9 open reading frame 155"""	GOLPH2, C9orf155		10831838, 18953438, 22542941	Standard	NM_016548		Approved	GP73, FLJ23608, bA379P1.3	uc004aol.3	Q8NBJ4	OTTHUMG00000020130	ENST00000388712.3:c.282C>T	9.37:g.88692354G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q6IAF4|Q9NRB9	Silent	SNP	NULL	p.S94	ENST00000388712.3	37	c.282	CCDS35054.1	9																																																																																			GOLM1	-	NULL		0.527	GOLM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GOLM1	HGNC	protein_coding	OTTHUMT00000052904.2	G	NM_177937		88692354	-1	no_errors	ENST00000388711	ensembl	human	known	70_37	silent	SNP	0.175	A
GON4L	54856	genome.wustl.edu	37	1	155823435	155823435	+	Missense_Mutation	SNP	G	G	A			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr1:155823435G>A	ENST00000368331.1	-	2	185	c.137C>T	c.(136-138)tCa>tTa	p.S46L	GON4L_ENST00000271883.5_Missense_Mutation_p.S46L|GON4L_ENST00000471341.1_5'UTR|GON4L_ENST00000361040.5_Missense_Mutation_p.S46L|GON4L_ENST00000437809.1_Missense_Mutation_p.S46L	NM_001282858.1|NM_001282860.1	NP_001269787.1|NP_001269789.1	Q3T8J9	GON4L_HUMAN	gon-4-like (C. elegans)	46					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	45	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)					CCAGGATAGTGACACCGAACT	0.473																																																	0													192.0	168.0	176.0					1																	155823435		2203	4300	6503	SO:0001583	missense	54856			AB046826	CCDS1121.1, CCDS44242.1, CCDS60296.1	1q22	2013-10-31	2006-11-08	2006-02-16	ENSG00000116580	ENSG00000116580			25973	protein-coding gene	gene with protein product		610393	"""gon-4 homolog (C.elegans)"""	GON4		16545939, 21454521	Standard	XM_005245283		Approved	FLJ20203, GON-4	uc001fly.1	Q3T8J9	OTTHUMG00000014106	ENST00000368331.1:c.137C>T	1.37:g.155823435G>A	ENSP00000357315:p.Ser46Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	B7ZBL4|Q14C93|Q3T8J8|Q5VYZ5|Q5W0D5|Q6AWA6|Q6P1Q6|Q7Z3L3|Q8IY79|Q9BQI1|Q9HCG6	Missense_Mutation	SNP	pfam_PAH,superfamily_PAH,superfamily_Homeodomain-like,pfscan_Myb-like_dom	p.S46L	ENST00000368331.1	37	c.137		1	.	.	.	.	.	.	.	.	.	.	G	13.27	2.186706	0.38609	.	.	ENSG00000116580	ENST00000437809;ENST00000368331;ENST00000271883;ENST00000539959;ENST00000361040	T;T;T;T	0.21734	2.15;2.15;2.15;1.99	4.38	3.46	0.39613	.	0.466390	0.16128	N	0.228312	T	0.17831	0.0428	L	0.34521	1.04	0.09310	N	1	D;D;D	0.61080	0.989;0.981;0.989	D;D;D	0.75020	0.985;0.966;0.985	T	0.04178	-1.0971	10	0.87932	D	0	.	8.015	0.30376	0.1121:0.0:0.8879:0.0	.	46;46;46	Q3T8J9-2;Q3T8J9;Q3T8J9-3	.;GON4L_HUMAN;.	L	46	ENSP00000396117:S46L;ENSP00000357315:S46L;ENSP00000271883:S46L;ENSP00000354322:S46L	ENSP00000271883:S46L	S	-	2	0	GON4L	154090059	0.062000	0.20869	0.005000	0.12908	0.292000	0.27327	2.731000	0.47343	1.038000	0.40049	0.561000	0.74099	TCA	GON4L	-	NULL		0.473	GON4L-201	KNOWN	basic|appris_candidate_longest	protein_coding	GON4L	HGNC	protein_coding		G	NM_032292		155823435	-1	no_errors	ENST00000368331	ensembl	human	known	70_37	missense	SNP	0.020	A
GPATCH8	23131	genome.wustl.edu	37	17	42477228	42477228	+	Silent	SNP	G	G	A			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr17:42477228G>A	ENST00000591680.1	-	8	2247	c.2217C>T	c.(2215-2217)ggC>ggT	p.G739G	GPATCH8_ENST00000434000.1_Silent_p.G661G	NM_001002909.2	NP_001002909.1	Q9UKJ3	GPTC8_HUMAN	G patch domain containing 8	739							metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			breast(4)|endometrium(7)|kidney(6)|large_intestine(4)|liver(2)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	50		Prostate(33;0.0181)		BRCA - Breast invasive adenocarcinoma(366;0.206)		GTGCGGGACTGCCACTCCCAG	0.532																																																	0													85.0	85.0	85.0					17																	42477228		2203	4300	6503	SO:0001819	synonymous_variant	23131			AB011125	CCDS32666.1	17q21.31	2013-01-28	2006-08-22	2006-12-13	ENSG00000186566	ENSG00000186566		"""G patch domain containing"""	29066	protein-coding gene	gene with protein product		614396	"""KIAA0553"""	KIAA0553, GPATC8		9628581	Standard	NM_001002909		Approved		uc002igw.2	Q9UKJ3	OTTHUMG00000181818	ENST00000591680.1:c.2217C>T	17.37:g.42477228G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	B9EGP9|O60300|Q8TB99	Silent	SNP	pfam_G_patch_dom,pfam_Znf_C2H2_jaz,smart_G_patch_dom,pfscan_Znf_C2H2,pfscan_G_patch_dom	p.G739	ENST00000591680.1	37	c.2217	CCDS32666.1	17																																																																																			GPATCH8	-	NULL		0.532	GPATCH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPATCH8	HGNC	protein_coding	OTTHUMT00000457797.1	G	NM_001002909		42477228	-1	no_errors	ENST00000591680	ensembl	human	known	70_37	silent	SNP	0.998	A
GPBAR1	151306	genome.wustl.edu	37	2	219128094	219128094	+	Missense_Mutation	SNP	G	G	A	rs200890305		TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr2:219128094G>A	ENST00000522678.1	+	2	1515	c.647G>A	c.(646-648)cGg>cAg	p.R216Q	GPBAR1_ENST00000519574.1_Missense_Mutation_p.R216Q|GPBAR1_ENST00000479077.1_Missense_Mutation_p.R216Q|GPBAR1_ENST00000521462.1_Missense_Mutation_p.R216Q	NM_001077191.1	NP_001070659.1	Q8TDU6	GPBAR_HUMAN	G protein-coupled bile acid receptor 1	216					cell surface bile acid receptor signaling pathway (GO:0038184)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bile acid receptor activity (GO:0038181)|G-protein coupled bile acid receptor activity (GO:0038182)			cervix(1)|kidney(1)|large_intestine(1)|ovary(1)	4		Renal(207;0.0474)		Epithelial(149;7.19e-07)|all cancers(144;0.000131)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GCCCTGGCCCGGGCCCTTACC	0.697													G|||	1	0.000199681	0.0008	0.0	5008	,	,		15293	0.0		0.0	False		,,,				2504	0.0																0																																										SO:0001583	missense	151306			AB086170	CCDS46515.1	2q35	2012-08-08			ENSG00000179921	ENSG00000179921			19680	protein-coding gene	gene with protein product		610147				12419312	Standard	NM_170699		Approved	BG37, GPCR, TGR5, M-BAR, GPCR19, GPR131, MGC40597	uc010zjw.1	Q8TDU6	OTTHUMG00000155203	ENST00000522678.1:c.647G>A	2.37:g.219128094G>A	ENSP00000430886:p.Arg216Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	B3KV35	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	p.R216Q	ENST00000522678.1	37	c.647	CCDS46515.1	2	.	.	.	.	.	.	.	.	.	.	G	14.54	2.567329	0.45694	.	.	ENSG00000179921	ENST00000479077;ENST00000522678;ENST00000519574;ENST00000521462	T;T;T;T	0.40225	1.04;1.04;1.04;1.04	4.96	3.18	0.36537	GPCR, rhodopsin-like superfamily (1);	0.302095	0.28996	N	0.013471	T	0.20333	0.0489	N	0.17723	0.515	0.26770	N	0.969823	P	0.39665	0.682	B	0.32805	0.153	T	0.09773	-1.0659	10	0.18710	T	0.47	-8.23	6.7994	0.23742	0.3429:0.0:0.6571:0.0	.	216	Q8TDU6	GPBAR_HUMAN	Q	216	ENSP00000430698:R216Q;ENSP00000430886:R216Q;ENSP00000430202:R216Q;ENSP00000428824:R216Q	ENSP00000430698:R216Q	R	+	2	0	GPBAR1	218836338	0.966000	0.33281	0.998000	0.56505	0.811000	0.45836	1.915000	0.39976	0.699000	0.31761	-0.219000	0.12488	CGG	GPBAR1	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.697	GPBAR1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	GPBAR1	HGNC	protein_coding	OTTHUMT00000338767.3	G	NM_001077191		219128094	+1	no_errors	ENST00000479077	ensembl	human	known	70_37	missense	SNP	0.998	A
GPR107	57720	genome.wustl.edu	37	9	132890943	132890943	+	Missense_Mutation	SNP	G	G	C			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr9:132890943G>C	ENST00000372406.1	+	19	2116	c.1609G>C	c.(1609-1611)Gtc>Ctc	p.V537L	GPR107_ENST00000372410.3_Missense_Mutation_p.V508L|GPR107_ENST00000347136.6_Missense_Mutation_p.V489L	NM_001136557.1	NP_001130029.1	Q5VW38	GP107_HUMAN	G protein-coupled receptor 107	537						integral component of membrane (GO:0016021)				endometrium(2)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	11		Ovarian(14;0.000531)				GGCCACACTGGTCTTCTTTGT	0.433																																																	0													185.0	185.0	185.0					9																	132890943		2203	4300	6503	SO:0001583	missense	57720			AF376725	CCDS35162.1, CCDS48041.1, CCDS48042.1	9q34.2	2014-01-30			ENSG00000148358	ENSG00000148358		"""GPCR / Unclassified : 7TM orphan receptors"""	17830	protein-coding gene	gene with protein product							Standard	NM_020960		Approved	KIAA1624, RP11-88G17, FLJ20998, LUSTR1	uc004bzd.2	Q5VW38	OTTHUMG00000020804	ENST00000372406.1:c.1609G>C	9.37:g.132890943G>C	ENSP00000361483:p.Val537Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NJ53|Q2TB81|Q5JPA3|Q5VW39|Q96T26|Q9H658|Q9HCE8	Missense_Mutation	SNP	pfam_TM_rcpt_euk,pfam_Rhodopsin-like_GPCR_TM_domain	p.V537L	ENST00000372406.1	37	c.1609	CCDS48041.1	9	.	.	.	.	.	.	.	.	.	.	G	20.3	3.974047	0.74246	.	.	ENSG00000148358	ENST00000372406;ENST00000347136;ENST00000372410	T;T;T	0.25414	1.8;1.81;1.85	5.63	3.8	0.43715	.	0.242381	0.35615	N	0.003099	T	0.27731	0.0682	L	0.40543	1.245	0.43662	D	0.996089	P;D;P	0.53745	0.879;0.962;0.879	B;P;B	0.51701	0.36;0.677;0.36	T	0.01561	-1.1324	10	0.31617	T	0.26	-7.601	8.694	0.34284	0.233:0.0:0.767:0.0	.	508;537;489	G5E994;Q5VW38;Q5VW38-2	.;GP107_HUMAN;.	L	537;489;508	ENSP00000361483:V537L;ENSP00000336988:V489L;ENSP00000361487:V508L	ENSP00000336988:V489L	V	+	1	0	GPR107	131930764	1.000000	0.71417	0.968000	0.41197	0.930000	0.56654	3.199000	0.51043	0.736000	0.32559	0.561000	0.74099	GTC	GPR107	-	pfam_TM_rcpt_euk		0.433	GPR107-003	NOVEL	basic|CCDS	protein_coding	GPR107	HGNC	protein_coding	OTTHUMT00000054643.2	G			132890943	+1	no_errors	ENST00000372406	ensembl	human	known	70_37	missense	SNP	1.000	C
GPR116	221395	genome.wustl.edu	37	6	46867796	46867796	+	Missense_Mutation	SNP	C	C	A			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr6:46867796C>A	ENST00000283296.7	-	3	415	c.127G>T	c.(127-129)Ggt>Tgt	p.G43C	GPR116_ENST00000265417.7_Missense_Mutation_p.G43C|GPR116_ENST00000456426.2_Missense_Mutation_p.G43C|GPR116_ENST00000362015.4_Missense_Mutation_p.G43C	NM_001098518.1	NP_001091988.1	Q8IZF2	GP116_HUMAN	G protein-coupled receptor 116	43					energy reserve metabolic process (GO:0006112)|fat cell differentiation (GO:0045444)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|neuropeptide signaling pathway (GO:0007218)|regulation of lipid metabolic process (GO:0019216)|surfactant homeostasis (GO:0043129)	cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|lung(21)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	59			Lung(136;0.192)			GCCTCTTCACCAGCTGGTTCA	0.408																																					NSCLC(59;410 1274 8751 36715 50546)												0													104.0	95.0	98.0					6																	46867796		2203	4300	6503	SO:0001583	missense	221395			AB018301	CCDS4919.1	6p12.3	2014-08-08			ENSG00000069122	ENSG00000069122		"""-"", ""GPCR / Class B : Orphans"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	19030	protein-coding gene	gene with protein product						12435584	Standard	NM_001098518		Approved	DKFZp564O1923, KIAA0758	uc003oyo.3	Q8IZF2	OTTHUMG00000014793	ENST00000283296.7:c.127G>T	6.37:g.46867796C>A	ENSP00000283296:p.Gly43Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	O94858|Q5TF06|Q6RGN2|Q86SP0|Q9Y3Z2	Missense_Mutation	SNP	pfam_GPCR_2_secretin-like,pfam_SEA,pfam_GPS_dom,pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,smart_GPS_dom,pfscan_GPS_dom,pfscan_GPCR_2-like,pfscan_Ig-like,prints_GPCR_2_Ig-hepta_rcpt,prints_GPCR_2_secretin-like	p.G43C	ENST00000283296.7	37	c.127	CCDS4919.1	6	.	.	.	.	.	.	.	.	.	.	C	6.957	0.546500	0.13312	.	.	ENSG00000069122	ENST00000452370;ENST00000283296;ENST00000362015;ENST00000456426;ENST00000265417	T;T;T;T	0.27890	1.7;2.08;1.64;1.7	4.96	0.926	0.19430	.	0.984511	0.08257	N	0.973628	T	0.22820	0.0551	L	0.47716	1.5	0.09310	N	1	D;D;D	0.63046	0.992;0.992;0.992	P;P;P	0.55999	0.62;0.789;0.62	T	0.11372	-1.0590	10	0.72032	D	0.01	-4.2693	7.3818	0.26859	0.0:0.5762:0.0:0.4238	.	43;43;43	A8K0D8;Q8IZF2-3;Q8IZF2	.;.;GP116_HUMAN	C	43	ENSP00000283296:G43C;ENSP00000354563:G43C;ENSP00000412866:G43C;ENSP00000265417:G43C	ENSP00000265417:G43C	G	-	1	0	GPR116	46975755	0.000000	0.05858	0.003000	0.11579	0.027000	0.11550	-0.050000	0.11904	0.196000	0.20367	0.462000	0.41574	GGT	GPR116	-	NULL		0.408	GPR116-201	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR116	HGNC	protein_coding	OTTHUMT00000040806.2	C	NM_015234		46867796	-1	no_errors	ENST00000265417	ensembl	human	known	70_37	missense	SNP	0.000	A
GPR174	84636	genome.wustl.edu	37	X	78426874	78426874	+	Missense_Mutation	SNP	T	T	G	rs137871290		TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chrX:78426874T>G	ENST00000276077.1	+	1	406	c.370T>G	c.(370-372)Ttt>Gtt	p.F124V		NM_032553.1	NP_115942.1	Q9BXC1	GP174_HUMAN	G protein-coupled receptor 174	124						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(19)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	38						CATGTACCCCTTTCGCTTCCA	0.458										HNSCC(63;0.18)																																							0													217.0	194.0	202.0					X																	78426874		2203	4300	6503	SO:0001583	missense	84636			AF345567	CCDS14443.1	Xq13.3	2012-08-21			ENSG00000147138	ENSG00000147138		"""GPCR / Class A : Orphans"""	30245	protein-coding gene	gene with protein product		300903					Standard	NM_032553		Approved	FKSG79	uc004edg.1	Q9BXC1	OTTHUMG00000021898	ENST00000276077.1:c.370T>G	X.37:g.78426874T>G	ENSP00000276077:p.Phe124Val	Somatic		WXS	Illumina HiSeq	Phase_IV	Q2M3F7	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_P2_purnocptor	p.F124V	ENST00000276077.1	37	c.370	CCDS14443.1	X	.	.	.	.	.	.	.	.	.	.	t	14.49	2.550166	0.45383	.	.	ENSG00000147138	ENST00000276077	T	0.37411	1.2	5.13	5.13	0.70059	GPCR, rhodopsin-like superfamily (1);	0.121711	0.56097	D	0.000029	T	0.46190	0.1380	L	0.35854	1.095	0.44477	D	0.997412	D	0.69078	0.997	D	0.75020	0.985	T	0.27297	-1.0078	10	0.19147	T	0.46	.	12.7786	0.57464	0.0:0.0:0.0:1.0	.	124	Q9BXC1	GP174_HUMAN	V	124	ENSP00000276077:F124V	ENSP00000276077:F124V	F	+	1	0	GPR174	78313530	1.000000	0.71417	0.999000	0.59377	0.442000	0.32017	4.310000	0.59141	1.697000	0.51169	0.433000	0.28618	TTT	GPR174	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_P2_purnocptor		0.458	GPR174-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR174	HGNC	protein_coding	OTTHUMT00000057327.1	T	NM_032553		78426874	+1	no_errors	ENST00000276077	ensembl	human	known	70_37	missense	SNP	1.000	G
GPR21	2844	genome.wustl.edu	37	9	125797555	125797555	+	Missense_Mutation	SNP	G	G	T			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr9:125797555G>T	ENST00000373642.1	+	1	750	c.710G>T	c.(709-711)gGg>gTg	p.G237V	RABGAP1_ENST00000373647.4_Intron|RABGAP1_ENST00000493854.1_Intron|RABGAP1_ENST00000373643.5_Intron	NM_005294.1	NP_005285.1	Q99679	GPR21_HUMAN	G protein-coupled receptor 21	237					G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|negative regulation of insulin receptor signaling pathway (GO:0046627)|positive regulation of multicellular organism growth (GO:0040018)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)			endometrium(3)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|stomach(1)|urinary_tract(2)	15						AGCCAGAGTGGGGAGACTGGG	0.498																																																	0													132.0	125.0	128.0					9																	125797555		2203	4300	6503	SO:0001583	missense	2844			BC066885	CCDS6849.1	9q33	2012-08-21			ENSG00000188394	ENSG00000188394		"""GPCR / Class A : Orphans"""	4476	protein-coding gene	gene with protein product		601909					Standard	NM_005294		Approved		uc011lzk.3	Q99679	OTTHUMG00000020631	ENST00000373642.1:c.710G>T	9.37:g.125797555G>T	ENSP00000362746:p.Gly237Val	Somatic		WXS	Illumina HiSeq	Phase_IV	B2R8W9|Q6NXU2	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	p.G237V	ENST00000373642.1	37	c.710	CCDS6849.1	9	.	.	.	.	.	.	.	.	.	.	G	7.077	0.569501	0.13560	.	.	ENSG00000188394	ENST00000373642;ENST00000412269	T	0.74842	-0.88	5.67	1.78	0.24846	GPCR, rhodopsin-like superfamily (1);	0.580959	0.15610	U	0.253454	T	0.51991	0.1707	N	0.14661	0.345	0.80722	D	1	B	0.13145	0.007	B	0.10450	0.005	T	0.23084	-1.0198	10	0.27082	T	0.32	-0.0284	5.3548	0.16055	0.121:0.1158:0.6431:0.1201	.	237	Q99679	GPR21_HUMAN	V	237	ENSP00000362746:G237V	ENSP00000362746:G237V	G	+	2	0	GPR21	124837376	1.000000	0.71417	0.996000	0.52242	0.986000	0.74619	2.125000	0.42016	0.066000	0.16515	0.467000	0.42956	GGG	GPR21	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.498	GPR21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR21	HGNC	protein_coding	OTTHUMT00000053965.1	G	NM_005294		125797555	+1	no_errors	ENST00000373642	ensembl	human	known	70_37	missense	SNP	1.000	T
GPR98	84059	genome.wustl.edu	37	5	89947494	89947494	+	Missense_Mutation	SNP	T	T	G			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr5:89947494T>G	ENST00000405460.2	+	18	3459	c.3363T>G	c.(3361-3363)ttT>ttG	p.F1121L		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	1121	Calx-beta 9. {ECO:0000305|PubMed:11606593}.				detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|G-protein coupled receptor signaling pathway (GO:0007186)|inner ear receptor stereocilium organization (GO:0060122)|maintenance of organ identity (GO:0048496)|nervous system development (GO:0007399)|neurological system process (GO:0050877)|neuropeptide signaling pathway (GO:0007218)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|stereocilia ankle link complex (GO:0002142)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		ATGGCATTTTTTCTCTGGAGC	0.333																																																	0													96.0	90.0	92.0					5																	89947494		1828	4082	5910	SO:0001583	missense	84059			AB014586	CCDS47246.1	5q13	2014-08-08	2006-05-26	2006-05-26	ENSG00000164199	ENSG00000164199		"""-"", ""GPCR / Class B : Orphans"""	17416	protein-coding gene	gene with protein product		602851	"""monogenic, audiogenic seizure susceptibility 1 homolog (mouse)"""	USH2C, MASS1		10976914, 14740321	Standard	NM_032119		Approved	DKFZp761P0710, KIAA0686, FEB4, VLGR1b	uc003kju.3	Q8WXG9	OTTHUMG00000162668	ENST00000405460.2:c.3363T>G	5.37:g.89947494T>G	ENSP00000384582:p.Phe1121Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	O75171|Q8TF58|Q9H0X5|Q9UL61	Missense_Mutation	SNP	pfam_Calx_beta,pfam_EPTP,pfam_GPCR_2_secretin-like,pfam_GPS_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Gal_Oxase/kelch_b-propeller,smart_Calx_beta,pfscan_EAR,pfscan_GPS_dom,pfscan_GPCR_2-like	p.F1121L	ENST00000405460.2	37	c.3363	CCDS47246.1	5	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	22.2|22.2	4.261199|4.261199	0.80246|0.80246	.|.	.|.	ENSG00000164199|ENSG00000164199	ENST00000405460;ENST00000296619;ENST00000399043|ENST00000504142	T|T	0.27402|0.27720	1.67|1.65	5.49|5.49	1.64|1.64	0.23874|0.23874	.|.	0.000000|0.000000	0.85682|0.85682	D|D	0.000000|0.000000	T|T	0.45458|0.45458	0.1343|0.1343	M|M	0.85373|0.85373	2.75|2.75	0.80722|0.80722	D|D	1|1	D|.	0.76494|.	0.999|.	D|.	0.70935|.	0.971|.	T|T	0.30119|0.30119	-0.9989|-0.9989	10|8	0.52906|0.24483	T|T	0.07|0.36	.|.	9.0076|9.0076	0.36122|0.36122	0.0:0.3601:0.0:0.6399|0.0:0.3601:0.0:0.6399	.|.	1121|.	Q8WXG9|.	GPR98_HUMAN|.	L|V	1121|710	ENSP00000384582:F1121L|ENSP00000424736:F710V	ENSP00000296619:F1121L|ENSP00000424736:F710V	F|F	+|+	3|1	2|0	GPR98|GPR98	89983250|89983250	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.982000|0.982000	0.71751|0.71751	1.680000|1.680000	0.37607|0.37607	0.043000|0.043000	0.15746|0.15746	0.482000|0.482000	0.46254|0.46254	TTT|TTC	GPR98	-	NULL		0.333	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR98	HGNC	protein_coding	OTTHUMT00000369993.2	T	NM_032119		89947494	+1	no_errors	ENST00000405460	ensembl	human	known	70_37	missense	SNP	1.000	G
GPR98	84059	genome.wustl.edu	37	5	89947501	89947501	+	Missense_Mutation	SNP	G	G	A			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr5:89947501G>A	ENST00000405460.2	+	18	3466	c.3370G>A	c.(3370-3372)Gag>Aag	p.E1124K		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	1124	Calx-beta 9. {ECO:0000305|PubMed:11606593}.				detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|G-protein coupled receptor signaling pathway (GO:0007186)|inner ear receptor stereocilium organization (GO:0060122)|maintenance of organ identity (GO:0048496)|nervous system development (GO:0007399)|neurological system process (GO:0050877)|neuropeptide signaling pathway (GO:0007218)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|stereocilia ankle link complex (GO:0002142)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		TTTTTCTCTGGAGCCCATAGA	0.338																																																	0													94.0	88.0	90.0					5																	89947501		1828	4084	5912	SO:0001583	missense	84059			AB014586	CCDS47246.1	5q13	2014-08-08	2006-05-26	2006-05-26	ENSG00000164199	ENSG00000164199		"""-"", ""GPCR / Class B : Orphans"""	17416	protein-coding gene	gene with protein product		602851	"""monogenic, audiogenic seizure susceptibility 1 homolog (mouse)"""	USH2C, MASS1		10976914, 14740321	Standard	NM_032119		Approved	DKFZp761P0710, KIAA0686, FEB4, VLGR1b	uc003kju.3	Q8WXG9	OTTHUMG00000162668	ENST00000405460.2:c.3370G>A	5.37:g.89947501G>A	ENSP00000384582:p.Glu1124Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	O75171|Q8TF58|Q9H0X5|Q9UL61	Missense_Mutation	SNP	pfam_Calx_beta,pfam_EPTP,pfam_GPCR_2_secretin-like,pfam_GPS_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Gal_Oxase/kelch_b-propeller,smart_Calx_beta,pfscan_EAR,pfscan_GPS_dom,pfscan_GPCR_2-like	p.E1124K	ENST00000405460.2	37	c.3370	CCDS47246.1	5	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	35|35	5.416154|5.416154	0.96092|0.96092	.|.	.|.	ENSG00000164199|ENSG00000164199	ENST00000405460;ENST00000296619;ENST00000399043|ENST00000504142	T|.	0.28666|.	1.6|.	5.49|5.49	5.49|5.49	0.81192|0.81192	.|.	0.046039|.	0.85682|.	D|.	0.000000|.	T|T	0.78175|0.78175	0.4242|0.4242	M|M	0.77103|0.77103	2.36|2.36	0.80722|0.80722	D|D	1|1	D|.	0.69078|.	0.997|.	D|.	0.65874|.	0.939|.	T|T	0.77814|0.77814	-0.2448|-0.2448	10|5	0.62326|.	D|.	0.03|.	.|.	19.358|19.358	0.94422|0.94422	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	1124|.	Q8WXG9|.	GPR98_HUMAN|.	K|E	1124|712	ENSP00000384582:E1124K|.	ENSP00000296619:E1124K|.	E|G	+|+	1|2	0|0	GPR98|GPR98	89983257|89983257	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.984000|0.984000	0.73092|0.73092	7.365000|7.365000	0.79537|0.79537	2.565000|2.565000	0.86533|0.86533	0.591000|0.591000	0.81541|0.81541	GAG|GGA	GPR98	-	NULL		0.338	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR98	HGNC	protein_coding	OTTHUMT00000369993.2	G	NM_032119		89947501	+1	no_errors	ENST00000405460	ensembl	human	known	70_37	missense	SNP	1.000	A
GPR98	84059	genome.wustl.edu	37	5	90124775	90124775	+	Missense_Mutation	SNP	A	A	C			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr5:90124775A>C	ENST00000405460.2	+	77	16479	c.16383A>C	c.(16381-16383)gaA>gaC	p.E5461D	GPR98_ENST00000425867.2_Missense_Mutation_p.E1122D	NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	5461	Calx-beta 35. {ECO:0000305|PubMed:11606593}.				detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|G-protein coupled receptor signaling pathway (GO:0007186)|inner ear receptor stereocilium organization (GO:0060122)|maintenance of organ identity (GO:0048496)|nervous system development (GO:0007399)|neurological system process (GO:0050877)|neuropeptide signaling pathway (GO:0007218)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|stereocilia ankle link complex (GO:0002142)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		CACAGGTTGAAGTGTATTTTT	0.308																																																	0													65.0	61.0	62.0					5																	90124775		1830	4088	5918	SO:0001583	missense	84059			AB014586	CCDS47246.1	5q13	2014-08-08	2006-05-26	2006-05-26	ENSG00000164199	ENSG00000164199		"""-"", ""GPCR / Class B : Orphans"""	17416	protein-coding gene	gene with protein product		602851	"""monogenic, audiogenic seizure susceptibility 1 homolog (mouse)"""	USH2C, MASS1		10976914, 14740321	Standard	NM_032119		Approved	DKFZp761P0710, KIAA0686, FEB4, VLGR1b	uc003kju.3	Q8WXG9	OTTHUMG00000162668	ENST00000405460.2:c.16383A>C	5.37:g.90124775A>C	ENSP00000384582:p.Glu5461Asp	Somatic		WXS	Illumina HiSeq	Phase_IV	O75171|Q8TF58|Q9H0X5|Q9UL61	Missense_Mutation	SNP	pfam_Calx_beta,pfam_EPTP,pfam_GPCR_2_secretin-like,pfam_GPS_dom,superfamily_ConA-like_lec_gl_sf,superfamily_Gal_Oxase/kelch_b-propeller,smart_Calx_beta,pfscan_EAR,pfscan_GPS_dom,pfscan_GPCR_2-like	p.E5461D	ENST00000405460.2	37	c.16383	CCDS47246.1	5	.	.	.	.	.	.	.	.	.	.	A	15.42	2.829166	0.50845	.	.	ENSG00000164199	ENST00000405460;ENST00000296619;ENST00000425867	T;T	0.23147	1.92;1.92	5.71	5.71	0.89125	.	0.144593	0.64402	D	0.000009	T	0.27663	0.0680	M	0.63843	1.955	0.48040	D	0.999578	B;P;B	0.42871	0.091;0.792;0.148	B;B;B	0.40165	0.032;0.321;0.07	T	0.04065	-1.0980	9	.	.	.	.	11.0909	0.48115	0.9281:0.0:0.0719:0.0	.	1122;5461;1122	E7EML1;Q8WXG9;Q8WXG9-2	.;GPR98_HUMAN;.	D	5461;5461;1122	ENSP00000384582:E5461D;ENSP00000392618:E1122D	.	E	+	3	2	GPR98	90160531	0.994000	0.37717	0.702000	0.30337	0.437000	0.31866	2.925000	0.48884	2.173000	0.68751	0.533000	0.62120	GAA	GPR98	-	NULL		0.308	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR98	HGNC	protein_coding	OTTHUMT00000369993.2	A	NM_032119		90124775	+1	no_errors	ENST00000405460	ensembl	human	known	70_37	missense	SNP	0.979	C
GPS1	2873	genome.wustl.edu	37	17	80011870	80011870	+	Missense_Mutation	SNP	A	A	T			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr17:80011870A>T	ENST00000306823.6	+	3	276	c.253A>T	c.(253-255)Acc>Tcc	p.T85S	RFNG_ENST00000429557.3_5'Flank|GPS1_ENST00000578552.1_Missense_Mutation_p.T85S|RFNG_ENST00000310496.4_5'Flank|GPS1_ENST00000320548.4_Missense_Mutation_p.T69S|GPS1_ENST00000355130.2_Missense_Mutation_p.T125S|GPS1_ENST00000392358.2_Missense_Mutation_p.T125S			Q13098	CSN1_HUMAN	G protein pathway suppressor 1	85					cell cycle (GO:0007049)|cullin deneddylation (GO:0010388)|inactivation of MAPK activity (GO:0000188)|JNK cascade (GO:0007254)	COP9 signalosome (GO:0008180)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	GTPase inhibitor activity (GO:0005095)			breast(1)|central_nervous_system(1)|endometrium(3)|liver(1)|lung(4)|prostate(1)|skin(2)	13	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0211)			CGTGCAGAGAACCTTTAACGT	0.617																																																	0													68.0	53.0	58.0					17																	80011870		2202	4296	6498	SO:0001583	missense	2873				CCDS11800.1, CCDS32774.1	17q25.3	2013-03-14				ENSG00000169727			4549	protein-coding gene	gene with protein product	"""COP9 signalosome subunit 1"""	601934				9535219	Standard	NM_212492		Approved	COPS1, CSN1	uc002kdl.1	Q13098		ENST00000306823.6:c.253A>T	17.37:g.80011870A>T	ENSP00000302873:p.Thr85Ser	Somatic		WXS	Illumina HiSeq	Phase_IV	Q8NA10|Q9BWL1	Missense_Mutation	SNP	pfam_26S_proteasome_reg_su-Rpn7,pfam_PCI_dom,smart_PCI_dom	p.T125S	ENST00000306823.6	37	c.373	CCDS32774.1	17	.	.	.	.	.	.	.	.	.	.	A	15.35	2.806804	0.50421	.	.	ENSG00000169727	ENST00000392358;ENST00000306823;ENST00000355130	.	.	.	4.47	4.47	0.54385	.	.	.	.	.	T	0.60766	0.2294	L	0.48986	1.54	0.80722	D	1	P;D;P;P;D	0.61697	0.691;0.982;0.582;0.686;0.99	B;P;B;P;P	0.57468	0.391;0.666;0.382;0.533;0.821	T	0.58381	-0.7646	8	0.06625	T	0.88	.	13.8889	0.63726	1.0:0.0:0.0:0.0	.	77;125;85;85;125	B4DND6;A8K070;Q13098-5;Q13098;Q13098-7	.;.;.;CSN1_HUMAN;.	S	125;85;125	.	ENSP00000302873:T85S	T	+	1	0	GPS1	77605159	1.000000	0.71417	1.000000	0.80357	0.840000	0.47671	8.494000	0.90477	1.846000	0.53633	0.460000	0.39030	ACC	GPS1	-	NULL		0.617	GPS1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	GPS1	HGNC	protein_coding	OTTHUMT00000442176.1	A	NM_212492		80011870	+1	no_errors	ENST00000355130	ensembl	human	known	70_37	missense	SNP	1.000	T
GPX8	493869	genome.wustl.edu	37	5	54456009	54456009	+	5'UTR	SNP	G	G	A			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr5:54456009G>A	ENST00000503787.1	+	0	64				CDC20B_ENST00000334206.5_Intron|GPX8_ENST00000506123.1_3'UTR|CDC20B_ENST00000381375.2_Intron|GPX8_ENST00000515370.1_5'UTR|CDC20B_ENST00000296733.1_Intron|GPX8_ENST00000296734.6_5'UTR|CDC20B_ENST00000331730.3_Intron|CDC20B_ENST00000322374.6_Intron	NM_001008397.2	NP_001008398.2	Q8TED1	GPX8_HUMAN	glutathione peroxidase 8 (putative)						response to oxidative stress (GO:0006979)	endoplasmic reticulum lumen (GO:0005788)|integral component of membrane (GO:0016021)	glutathione peroxidase activity (GO:0004602)|peroxidase activity (GO:0004601)			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)|prostate(1)	11					Glutathione(DB00143)	CTTCCCTCTAGAATCCTCCAA	0.483																																																	0													55.0	55.0	55.0					5																	54456009		2203	4300	6503	SO:0001623	5_prime_UTR_variant	493869			BC029424	CCDS34156.1	5q11.2	2008-09-29				ENSG00000164294			33100	protein-coding gene	gene with protein product							Standard	NM_001008397		Approved	UNQ847, EPLA847	uc003jpq.2	Q8TED1		ENST00000503787.1:c.-12G>A	5.37:g.54456009G>A		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000503787.1	37	NULL	CCDS34156.1	5																																																																																			GPX8	-	-		0.483	GPX8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPX8	HGNC	protein_coding	OTTHUMT00000369717.1	G	NM_001008397		54456009	+1	no_errors	ENST00000502733	ensembl	human	known	70_37	rna	SNP	0.040	A
GRIN2B	2904	genome.wustl.edu	37	12	13906621	13906621	+	Missense_Mutation	SNP	A	A	C			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr12:13906621A>C	ENST00000609686.1	-	3	849	c.640T>G	c.(640-642)Tct>Gct	p.S214A		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	214					behavioral fear response (GO:0001662)|behavioral response to pain (GO:0048266)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|glutamate receptor signaling pathway (GO:0007215)|in utero embryonic development (GO:0001701)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|learning (GO:0007612)|learning or memory (GO:0007611)|memory (GO:0007613)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of synaptic plasticity (GO:0048167)|response to ethanol (GO:0045471)|sensory organ development (GO:0007423)|startle response (GO:0001964)|suckling behavior (GO:0001967)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synaptic vesicle (GO:0008021)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glycine binding (GO:0016594)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Felbamate(DB00949)|Gabapentin(DB00996)|Haloperidol(DB00502)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	TGGATCTTAGAATCTCCATCG	0.473																																																	0													143.0	142.0	142.0					12																	13906621		2203	4300	6503	SO:0001583	missense	2904				CCDS8662.1	12p13.1	2014-07-16			ENSG00000273079			"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4586	protein-coding gene	gene with protein product		138252		NMDAR2B		1350383	Standard	NM_000834		Approved	GluN2B	uc001rbt.2	Q13224	OTTHUMG00000137373	ENST00000609686.1:c.640T>G	12.37:g.13906621A>C	ENSP00000477455:p.Ser214Ala	Somatic		WXS	Illumina HiSeq	Phase_IV	Q12919|Q13220|Q13225|Q14CU4|Q9UM56	Missense_Mutation	SNP	pfam_NMDAR2_C,pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,pfam_ANF_lig-bd_rcpt,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt	p.S214A	ENST00000609686.1	37	c.640	CCDS8662.1	12	.	.	.	.	.	.	.	.	.	.	A	2.629	-0.286825	0.05605	.	.	ENSG00000150086	ENST00000279593	D	0.90444	-2.67	5.27	5.27	0.74061	Extracellular ligand-binding receptor (1);	0.000000	0.85682	D	0.000000	T	0.78052	0.4223	N	0.05230	-0.09	0.54753	D	0.999986	B	0.09022	0.002	B	0.08055	0.003	T	0.73392	-0.3997	10	0.02654	T	1	.	15.2072	0.73190	1.0:0.0:0.0:0.0	.	214	Q13224	NMDE2_HUMAN	A	214	ENSP00000279593:S214A	ENSP00000279593:S214A	S	-	1	0	GRIN2B	13797888	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.798000	0.62510	1.987000	0.57996	0.459000	0.35465	TCT	GRIN2B	-	pfam_ANF_lig-bd_rcpt		0.473	GRIN2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRIN2B	HGNC	protein_coding	OTTHUMT00000268014.2	A			13906621	-1	no_errors	ENST00000279593	ensembl	human	known	70_37	missense	SNP	1.000	C
GRIP2	80852	genome.wustl.edu	37	3	14535166	14535166	+	RNA	SNP	G	G	A			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr3:14535166G>A	ENST00000273083.3	-	0	3203							Q9C0E4	GRIP2_HUMAN	glutamate receptor interacting protein 2						synaptic transmission (GO:0007268)	cytosol (GO:0005829)|plasma membrane (GO:0005886)				endometrium(5)|large_intestine(4)|lung(8)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	25						CGGCCCACATGCTGACTTCAG	0.642																																																	0													16.0	20.0	19.0					3																	14535166		2051	4168	6219			80852			AB051506		3p24-p23	2012-02-08			ENSG00000144596	ENSG00000144596			23841	protein-coding gene	gene with protein product							Standard	NM_001080423		Approved	KIAA1719	uc021wtn.1	Q9C0E4	OTTHUMG00000155544		3.37:g.14535166G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q8TEH9|Q9H7H3	RNA	SNP	-	NULL	ENST00000273083.3	37	NULL		3																																																																																			GRIP2	-	-		0.642	GRIP2-001	KNOWN	basic	processed_transcript	GRIP2	HGNC	processed_transcript	OTTHUMT00000340582.2	G	NM_001080423		14535166	-1	no_errors	ENST00000273083	ensembl	human	known	70_37	rna	SNP	0.000	A
GRIPAP1	56850	genome.wustl.edu	37	X	48855595	48855595	+	Intron	SNP	G	G	C			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chrX:48855595G>C	ENST00000376441.1	-	3	206				GRIPAP1_ENST00000376425.3_Intron|GRIPAP1_ENST00000376444.3_Intron|GRIPAP1_ENST00000376423.4_Intron	NM_020137.3	NP_064522.3	Q4V328	GRAP1_HUMAN	GRIP1 associated protein 1							blood microparticle (GO:0072562)|endosome (GO:0005768)				breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(2)	10						GAATGAGTCAGATAGGTAGAA	0.478																																																	0													75.0	56.0	61.0					X																	48855595		692	1591	2283	SO:0001627	intron_variant	56850			AB032993	CCDS35248.1	Xp11.23	2008-02-05			ENSG00000068400	ENSG00000068400			18706	protein-coding gene	gene with protein product		300408				10896157	Standard	NM_020137		Approved	GRASP-1, GRASP1, KIAA1167, MPMGp800B12492Q3, DKFZp434P0630	uc004dly.1	Q4V328	OTTHUMG00000033192	ENST00000376441.1:c.171+54C>G	X.37:g.48855595G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	A6NL78|Q3MJ75|Q4V327|Q4V330|Q5HYG1|Q6N046|Q96DH8|Q9NQ43|Q9ULQ3	RNA	SNP	-	NULL	ENST00000376441.1	37	NULL	CCDS35248.1	X																																																																																			GRIPAP1	-	-		0.478	GRIPAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRIPAP1	HGNC	protein_coding	OTTHUMT00000080970.2	G	NM_207672		48855595	-1	no_errors	ENST00000495258	ensembl	human	putative	70_37	rna	SNP	0.000	C
GRK1	6011	genome.wustl.edu	37	13	114321720	114321720	+	Missense_Mutation	SNP	G	G	A			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr13:114321720G>A	ENST00000335678.6	+	1	251	c.19G>A	c.(19-21)Gag>Aag	p.E7K		NM_002929.2	NP_002920.1	Q15835	RK_HUMAN	G protein-coupled receptor kinase 1	7	N-terminal.				negative regulation of apoptotic process (GO:0043066)|photoreceptor cell morphogenesis (GO:0008594)|phototransduction, visible light (GO:0007603)|positive regulation of phosphorylation (GO:0042327)|post-embryonic retina morphogenesis in camera-type eye (GO:0060060)|protein autophosphorylation (GO:0046777)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|visual perception (GO:0007601)	photoreceptor disc membrane (GO:0097381)	ATP binding (GO:0005524)|G-protein coupled receptor kinase activity (GO:0004703)|protein kinase activity (GO:0004672)|rhodopsin kinase activity (GO:0050254)			ovary(2)	2	Lung NSC(43;0.0113)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.00696)|all_epithelial(44;0.00347)|all_lung(25;0.0221)|Breast(118;0.0411)|Lung NSC(25;0.0839)	all cancers(43;0.234)			CGGGTCTTTGGAGACCGTGGT	0.642																																																	0													43.0	51.0	48.0					13																	114321720		2091	4228	6319	SO:0001583	missense	6011					13q34	2013-09-02	2004-03-23	2004-03-24	ENSG00000185974	ENSG00000185974	2.7.11.14		10013	protein-coding gene	gene with protein product		180381	"""rhodopsin kinase"""	RHOK		8812493, 15057823	Standard	NM_002929		Approved	GPRK1, RK	uc010tkf.2	Q15835	OTTHUMG00000185528	ENST00000335678.6:c.19G>A	13.37:g.114321720G>A	ENSP00000334876:p.Glu7Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q53X14	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Regulat_G_prot_signal,superfamily_Kinase-like_dom,superfamily_Regulat_G_prot_signal_superfam,smart_Regulat_G_prot_signal,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_Regulat_G_prot_signal,pfscan_Prot_kinase_cat_dom,prints_GPCR_kinase	p.E7K	ENST00000335678.6	37	c.19		13	.	.	.	.	.	.	.	.	.	.	G	17.85	3.490272	0.64074	.	.	ENSG00000185974	ENST00000335678	T	0.69926	-0.44	5.21	5.21	0.72293	.	0.179079	0.49305	D	0.000144	T	0.58395	0.2119	.	.	.	0.38931	D	0.957946	B	0.31893	0.345	B	0.22152	0.038	T	0.63717	-0.6574	9	0.56958	D	0.05	-55.7291	16.2679	0.82600	0.0:0.0:1.0:0.0	.	7	Q15835	RK_HUMAN	K	7	ENSP00000334876:E7K	ENSP00000334876:E7K	E	+	1	0	GRK1	113369721	1.000000	0.71417	1.000000	0.80357	0.843000	0.47879	4.347000	0.59373	2.415000	0.81967	0.561000	0.74099	GAG	GRK1	-	NULL		0.642	GRK1-001	KNOWN	basic|appris_principal	protein_coding	GRK1	HGNC	protein_coding	OTTHUMT00000470655.1	G	NM_002929		114321720	+1	no_errors	ENST00000335678	ensembl	human	known	70_37	missense	SNP	1.000	A
GSDMD	79792	genome.wustl.edu	37	8	144641548	144641548	+	Missense_Mutation	SNP	G	G	C			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr8:144641548G>C	ENST00000526406.1	+	5	926	c.43G>C	c.(43-45)Gag>Cag	p.E15Q	GSDMD_ENST00000262580.4_Missense_Mutation_p.E15Q|GSDMD_ENST00000533063.1_Missense_Mutation_p.E63Q	NM_001166237.1	NP_001159709.1	P57764	GSDMD_HUMAN	gasdermin D	15					cellular response to extracellular stimulus (GO:0031668)			p.E15K(1)		breast(1)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	12						AGTGGTCCAGGAGCTGGACCA	0.632																																																	1	Substitution - Missense(1)	lung(1)											78.0	71.0	74.0					8																	144641548		2203	4300	6503	SO:0001583	missense	79792			AK096216	CCDS34956.1	8q24.3	2008-07-31	2008-07-31	2008-07-31		ENSG00000104518			25697	protein-coding gene	gene with protein product			"""gasdermin domain containing 1"""	GSDMDC1		15289881, 17350798	Standard	NM_024736		Approved	FLJ12150, DF5L	uc003yyg.3	P57764		ENST00000526406.1:c.43G>C	8.37:g.144641548G>C	ENSP00000433209:p.Glu15Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	D3DWJ9|Q96Q98	Missense_Mutation	SNP	pfam_Gasdermin	p.E15Q	ENST00000526406.1	37	c.43	CCDS34956.1	8	.	.	.	.	.	.	.	.	.	.	G	16.14	3.039661	0.55003	.	.	ENSG00000104518	ENST00000526406;ENST00000529854;ENST00000533348;ENST00000533063;ENST00000262580;ENST00000525721;ENST00000534018;ENST00000533888	T;T;T;T;T;T;T;T	0.35421	1.31;1.31;1.31;1.31;1.31;1.31;1.31;1.31	4.88	4.88	0.63580	.	0.100095	0.43919	D	0.000504	T	0.52629	0.1746	L	0.54908	1.71	0.31745	N	0.635288	D;D;D;D	0.89917	1.0;0.995;0.995;0.994	D;D;D;D	0.91635	0.999;0.989;0.989;0.982	T	0.55211	-0.8176	10	0.31617	T	0.26	-50.5482	13.3904	0.60821	0.0:0.0:1.0:0.0	.	45;15;15;63	Q6ZRV8;A8K702;P57764;G3V1A6	.;.;GSDMD_HUMAN;.	Q	15;15;15;63;15;15;31;15	ENSP00000433209:E15Q;ENSP00000432351:E15Q;ENSP00000434386:E15Q;ENSP00000433958:E63Q;ENSP00000262580:E15Q;ENSP00000434452:E15Q;ENSP00000436684:E31Q;ENSP00000437065:E15Q	ENSP00000262580:E15Q	E	+	1	0	GSDMD	144712691	1.000000	0.71417	0.988000	0.46212	0.235000	0.25334	4.664000	0.61540	2.528000	0.85240	0.643000	0.83706	GAG	GSDMD	-	pfam_Gasdermin		0.632	GSDMD-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	GSDMD	HGNC	protein_coding	OTTHUMT00000382046.3	G	NM_024736		144641548	+1	no_errors	ENST00000262580	ensembl	human	known	70_37	missense	SNP	0.986	C
GSE1	23199	genome.wustl.edu	37	16	85682289	85682290	+	Frame_Shift_Ins	INS	-	-	C			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr16:85682289_85682290insC	ENST00000253458.7	+	3	534_535	c.358_359insC	c.(358-360)accfs	p.T120fs	GSE1_ENST00000393243.1_Frame_Shift_Ins_p.T47fs|GSE1_ENST00000405402.2_Frame_Shift_Ins_p.T16fs	NM_014615.2	NP_055430.1	Q14687	GSE1_HUMAN	Gse1 coiled-coil protein	120								p.V123fs*2(1)									CGTGCCCAGCACCCCCCCCGTG	0.688																																																	1	Deletion - Frameshift(1)	ovary(1)																																								SO:0001589	frameshift_variant	23199			D80004	CCDS10952.1, CCDS45539.1, CCDS62007.1	16q24.1	2012-12-07	2012-12-07	2012-10-02	ENSG00000131149	ENSG00000131149			28979	protein-coding gene	gene with protein product	"""genetic suppressor element 1"""		"""KIAA0182"", ""Gse1 coiled-coil protein homolog (mouse)"""	KIAA0182		8724849, 8786132	Standard	NM_014615		Approved		uc002fix.4	Q14687	OTTHUMG00000137650	ENST00000253458.7:c.366dupC	16.37:g.85682297_85682297dupC	ENSP00000253458:p.Thr120fs	Somatic		WXS	Illumina HiSeq	Phase_IV	D3DUM4|Q8IY61|Q96GA4|Q9BW09	Frame_Shift_Ins	INS	pfam_GSE-like	p.V123fs	ENST00000253458.7	37	c.358_359	CCDS10952.1	16																																																																																			GSE1	-	pfam_GSE-like		0.688	GSE1-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	GSE1	HGNC	protein_coding	OTTHUMT00000325527.1	-	NM_014615		85682290	+1	no_errors	ENST00000253458	ensembl	human	known	70_37	frame_shift_ins	INS	1.000:0.999	C
GSG2	83903	genome.wustl.edu	37	17	3629039	3629039	+	Missense_Mutation	SNP	G	G	C			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr17:3629039G>C	ENST00000325418.4	+	1	1829	c.1810G>C	c.(1810-1812)Gaa>Caa	p.E604Q	ITGAE_ENST00000571185.1_Intron|ITGAE_ENST00000263087.4_Intron	NM_031965.2	NP_114171.2	Q8TF76	HASP_HUMAN	germ cell associated 2 (haspin)	604	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159, ECO:0000305}.				histone H3-T3 phosphorylation involved in chromosome passenger complex localization to kinetochore (GO:2000751)|intracellular signal transduction (GO:0035556)|mitotic sister chromatid cohesion (GO:0007064)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|protein localization to chromosome, centromeric region (GO:0071459)|protein phosphorylation (GO:0006468)|regulation of spindle checkpoint (GO:0090231)	centrosome (GO:0005813)|chromosome (GO:0005694)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|spindle (GO:0005819)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|histone kinase activity (H3-T3 specific) (GO:0072354)|protein kinase activity (GO:0004672)										CATTGTGCTGGAATTTGAGTT	0.473																																																	0													110.0	108.0	109.0					17																	3629039		2203	4300	6503	SO:0001583	missense	83903			AB039834	CCDS11036.1	17p13	2005-01-19			ENSG00000177602	ENSG00000177602			19682	protein-coding gene	gene with protein product		609240					Standard	NM_031965		Approved	haspin	uc002fwp.3	Q8TF76	OTTHUMG00000090703	ENST00000325418.4:c.1810G>C	17.37:g.3629039G>C	ENSP00000325290:p.Glu604Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	Q5U5K3|Q96MN1|Q9BXS7	Missense_Mutation	SNP	pfam_DUF3635,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_cat_dom	p.E604Q	ENST00000325418.4	37	c.1810	CCDS11036.1	17	.	.	.	.	.	.	.	.	.	.	G	20.2	3.943778	0.73672	.	.	ENSG00000177602	ENST00000325418	T	0.72394	-0.65	4.87	4.87	0.63330	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.64402	D	0.000002	D	0.87920	0.6299	M	0.94101	3.495	0.53005	D	0.999964	D	0.76494	0.999	D	0.87578	0.998	D	0.90805	0.4697	10	0.87932	D	0	-22.0654	16.0321	0.80585	0.0:0.0:1.0:0.0	.	604	Q8TF76	HASP_HUMAN	Q	604	ENSP00000325290:E604Q	ENSP00000325290:E604Q	E	+	1	0	GSG2	3575788	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	7.208000	0.77907	2.648000	0.89879	0.655000	0.94253	GAA	GSG2	-	pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_cat_dom		0.473	GSG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GSG2	HGNC	protein_coding	OTTHUMT00000207391.1	G	NM_031965		3629039	+1	no_errors	ENST00000325418	ensembl	human	known	70_37	missense	SNP	1.000	C
GSK3A	2931	genome.wustl.edu	37	19	42735003	42735003	+	Silent	SNP	C	C	T	rs372575967	byFrequency	TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr19:42735003C>T	ENST00000222330.3	-	11	1522	c.1395G>A	c.(1393-1395)ccG>ccA	p.P465P	GSK3A_ENST00000398249.4_Silent_p.P383P	NM_019884.2	NP_063937.2	P49840	GSK3A_HUMAN	glycogen synthase kinase 3 alpha	465					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cardiac left ventricle morphogenesis (GO:0003214)|cell migration (GO:0016477)|cellular protein metabolic process (GO:0044267)|cellular response to insulin stimulus (GO:0032869)|cellular response to interleukin-3 (GO:0036016)|cellular response to lithium ion (GO:0071285)|cellular response to organic cyclic compound (GO:0071407)|endoplasmic reticulum unfolded protein response (GO:0030968)|epidermal growth factor receptor signaling pathway (GO:0007173)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glycogen metabolic process (GO:0005977)|hypermethylation of CpG island (GO:0044027)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell growth involved in cardiac muscle cell development (GO:0061052)|negative regulation of glucose import (GO:0046325)|negative regulation of glycogen (starch) synthase activity (GO:2000466)|negative regulation of glycogen biosynthetic process (GO:0045719)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of TOR signaling (GO:0032007)|negative regulation of transferase activity (GO:0051348)|negative regulation of type B pancreatic cell development (GO:2000077)|negative regulation of UDP-glucose catabolic process (GO:0010905)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of adrenergic receptor signaling pathway (GO:0071879)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of glycogen (starch) synthase activity (GO:2000467)|positive regulation of heart contraction (GO:0045823)|positive regulation of mitochondrial outer membrane permeabilization involved in apoptotic signaling pathway (GO:1901030)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein phosphorylation (GO:0006468)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of systemic arterial blood pressure (GO:0003073)|Wnt signaling pathway (GO:0016055)	beta-catenin destruction complex (GO:0030877)|cytosol (GO:0005829)	ATP binding (GO:0005524)|protein kinase A catalytic subunit binding (GO:0034236)|protein serine/threonine kinase activity (GO:0004674)|tau-protein kinase activity (GO:0050321)			endometrium(3)|large_intestine(3)|lung(6)|ovary(3)|prostate(2)|skin(1)|urinary_tract(1)	19		Prostate(69;0.00682)				CTGAGCTGGTCGGAGTCTCAG	0.567													C|||	23	0.00459265	0.0	0.0	5008	,	,		14554	0.0		0.0	False		,,,				2504	0.0235																0													84.0	68.0	74.0					19																	42735003		2198	4288	6486	SO:0001819	synonymous_variant	2931				CCDS12599.1	19q13	2008-02-15			ENSG00000105723	ENSG00000105723			4616	protein-coding gene	gene with protein product		606784				9809441	Standard	NM_019884		Approved		uc002otb.1	P49840	OTTHUMG00000150722	ENST00000222330.3:c.1395G>A	19.37:g.42735003C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	O14959	Silent	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.P465	ENST00000222330.3	37	c.1395	CCDS12599.1	19																																																																																			GSK3A	-	NULL		0.567	GSK3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GSK3A	HGNC	protein_coding	OTTHUMT00000319782.1	C			42735003	-1	no_errors	ENST00000222330	ensembl	human	known	70_37	silent	SNP	0.016	T
GSPT2	23708	genome.wustl.edu	37	X	51487545	51487545	+	Missense_Mutation	SNP	T	T	C			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chrX:51487545T>C	ENST00000340438.4	+	1	1065	c.823T>C	c.(823-825)Tat>Cat	p.Y275H		NM_018094.4	NP_060564.2	Q8IYD1	ERF3B_HUMAN	G1 to S phase transition 2	275	tr-type G. {ECO:0000255|PROSITE- ProRule:PRU01059}.				cell cycle (GO:0007049)|cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|translation (GO:0006412)|translational termination (GO:0006415)	cytosol (GO:0005829)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)			breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	20	Ovarian(276;0.236)					GGGTCGTGCCTATTTTGAAAC	0.428																																																	0													139.0	131.0	134.0					X																	51487545		2203	4300	6503	SO:0001583	missense	23708			AI285711	CCDS14336.1	Xp11.22	2008-05-14			ENSG00000189369	ENSG00000189369			4622	protein-coding gene	gene with protein product		300418				10575220	Standard	NM_018094		Approved	eRF3b, FLJ10441	uc004dpl.3	Q8IYD1	OTTHUMG00000021538	ENST00000340438.4:c.823T>C	X.37:g.51487545T>C	ENSP00000341247:p.Tyr275His	Somatic		WXS	Illumina HiSeq	Phase_IV	Q9H909|Q9NVY0|Q9NY44	Missense_Mutation	SNP	pfam_EF_GTP-bd_dom,pfam_Transl_elong_EFTu/EF1A_C,pfam_Transl_elong_EFTu/EF1A_2,pfam_Ataxin-2_C,superfamily_Transl_elong_EF1A/Init_IF2_C,superfamily_Transl_elong_init/rib_B-barrel,prints_EF_GTP-bd_dom	p.Y275H	ENST00000340438.4	37	c.823	CCDS14336.1	X	.	.	.	.	.	.	.	.	.	.	T	10.24	1.294627	0.23564	.	.	ENSG00000189369	ENST00000340438;ENST00000502175	T	0.70631	-0.5	4.54	4.54	0.55810	Protein synthesis factor, GTP-binding (1);	0.000000	0.85682	D	0.000000	T	0.62502	0.2433	L	0.42529	1.33	0.80722	D	1	B	0.32324	0.364	B	0.33690	0.168	T	0.63883	-0.6536	10	0.45353	T	0.12	-12.7952	11.2146	0.48819	0.0:0.0:0.0:1.0	.	275	Q8IYD1	ERF3B_HUMAN	H	275;192	ENSP00000341247:Y275H	ENSP00000341247:Y275H	Y	+	1	0	GSPT2	51504285	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.561000	0.67339	2.013000	0.59113	0.480000	0.44947	TAT	GSPT2	-	pfam_EF_GTP-bd_dom		0.428	GSPT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GSPT2	HGNC	protein_coding	OTTHUMT00000056587.1	T			51487545	+1	no_errors	ENST00000340438	ensembl	human	known	70_37	missense	SNP	1.000	C
GTPBP4	23560	genome.wustl.edu	37	10	1046733	1046733	+	Silent	SNP	G	G	A			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr10:1046733G>A	ENST00000360803.4	+	7	853	c.771G>A	c.(769-771)ttG>ttA	p.L257L	GTPBP4_ENST00000491635.1_3'UTR|GTPBP4_ENST00000538293.1_Silent_p.L141L|GTPBP4_ENST00000545048.1_Silent_p.L210L	NM_012341.2	NP_036473.2	Q9BZE4	NOG1_HUMAN	GTP binding protein 4	257	OBG-type G. {ECO:0000255|PROSITE- ProRule:PRU01047}.				GTP catabolic process (GO:0006184)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of collagen binding (GO:0033342)|negative regulation of DNA replication (GO:0008156)|negative regulation of protein ubiquitination (GO:0031397)|osteoblast differentiation (GO:0001649)|protein stabilization (GO:0050821)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|ribosome biogenesis (GO:0042254)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)			endometrium(2)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|prostate(2)|skin(1)	21		all_epithelial(10;0.107)|Colorectal(49;0.14)	OV - Ovarian serous cystadenocarcinoma(33;0.0814)	Epithelial(11;0.0513)|all cancers(11;0.135)|OV - Ovarian serous cystadenocarcinoma(14;0.173)		TGATGGATTTGTCTGAGCAGT	0.552																																																	0													200.0	179.0	186.0					10																	1046733		2203	4300	6503	SO:0001819	synonymous_variant	23560			AK001548	CCDS31132.1	10p15-p14	2007-07-27			ENSG00000107937	ENSG00000107937			21535	protein-coding gene	gene with protein product	"""G protein-binding protein CRFG"", "" GTP-binding protein"""					11316846	Standard	NM_012341		Approved	CRFG, NGB, FLJ10690, FLJ10686, NOG1	uc001ift.3	Q9BZE4	OTTHUMG00000017538	ENST00000360803.4:c.771G>A	10.37:g.1046733G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	B3KMC5|B4DY13|B7Z7A3|O95446|Q5T3R8|Q9NVJ8	Silent	SNP	pfam_NOG1_Rossman_fold_dom,pfam_NOG_C,pfam_GTP_binding_domain,pfam_Fe2_transport_prot_B_N,pfam_MIRO-like,prints_GTP_binding_domain,tigrfam_Small_GTP-bd_dom	p.L257	ENST00000360803.4	37	c.771	CCDS31132.1	10																																																																																			GTPBP4	-	pfam_NOG1_Rossman_fold_dom,pfam_GTP_binding_domain,pfam_Fe2_transport_prot_B_N,pfam_MIRO-like,tigrfam_Small_GTP-bd_dom		0.552	GTPBP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GTPBP4	HGNC	protein_coding	OTTHUMT00000046412.1	G	NM_012341		1046733	+1	no_errors	ENST00000360803	ensembl	human	known	70_37	silent	SNP	0.997	A
GTSF1	121355	genome.wustl.edu	37	12	54856430	54856430	+	Missense_Mutation	SNP	A	A	C			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr12:54856430A>C	ENST00000552397.1	-	5	1220	c.324T>G	c.(322-324)gaT>gaG	p.D108E	GTSF1_ENST00000552395.1_5'UTR|RP11-753H16.5_ENST00000552785.1_RNA|GTSF1_ENST00000305879.5_Missense_Mutation_p.D108E|RP11-753H16.3_ENST00000550474.1_RNA			Q8WW33	GTSF1_HUMAN	gametocyte specific factor 1	108						cytoplasm (GO:0005737)	metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)	5		Myeloproliferative disorder(1001;0.00452)				GCTCACCTTTATCCCAGTCTT	0.423																																																	0													129.0	132.0	131.0					12																	54856430		2203	4300	6503	SO:0001583	missense	121355			AK098819	CCDS8881.1	12q13.2	2008-02-04	2007-11-27	2007-11-27		ENSG00000170627			26565	protein-coding gene	gene with protein product			"""family with sequence similarity 112, member B"""	FAM112B		12477932	Standard	NM_144594		Approved	FLJ32942	uc001sgb.3	Q8WW33		ENST00000552397.1:c.324T>G	12.37:g.54856430A>C	ENSP00000446485:p.Asp108Glu	Somatic		WXS	Illumina HiSeq	Phase_IV	B3KQ60|Q0VGM4|Q8N778	Missense_Mutation	SNP	pfam_TRM13/UPF0224_CHHC_Znf_dom	p.D108E	ENST00000552397.1	37	c.324	CCDS8881.1	12	.	.	.	.	.	.	.	.	.	.	A	11.94	1.788799	0.31685	.	.	ENSG00000170627	ENST00000552397;ENST00000305879	T;T	0.57273	0.41;0.41	5.83	0.91	0.19337	.	0.293130	0.38111	N	0.001817	T	0.29389	0.0732	N	0.19112	0.55	0.32440	N	0.546802	P	0.38617	0.64	B	0.32533	0.147	T	0.33624	-0.9861	10	0.28530	T	0.3	-20.8608	8.8477	0.35181	0.6247:0.0:0.3753:0.0	.	108	Q8WW33	GTSF1_HUMAN	E	108	ENSP00000446485:D108E;ENSP00000304185:D108E	ENSP00000304185:D108E	D	-	3	2	GTSF1	53142697	0.961000	0.32948	0.998000	0.56505	0.985000	0.73830	0.038000	0.13862	-0.069000	0.12931	0.533000	0.62120	GAT	GTSF1	-	NULL		0.423	GTSF1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	GTSF1	HGNC	protein_coding	OTTHUMT00000406187.1	A	NM_144594		54856430	-1	no_errors	ENST00000546931	ensembl	human	known	70_37	missense	SNP	0.996	C
GULP1	51454	genome.wustl.edu	37	2	189458715	189458715	+	Missense_Mutation	SNP	G	G	A	rs369009419		TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr2:189458715G>A	ENST00000409580.1	+	13	1606	c.892G>A	c.(892-894)Gac>Aac	p.D298N	GULP1_ENST00000409830.1_Missense_Mutation_p.D298N|GULP1_ENST00000409805.1_Missense_Mutation_p.D195N|GULP1_ENST00000409609.1_Missense_Mutation_p.D298N|GULP1_ENST00000409843.1_3'UTR|GULP1_ENST00000359135.3_Missense_Mutation_p.D298N			Q9UBP9	GULP1_HUMAN	GULP, engulfment adaptor PTB domain containing 1	298					apoptotic process (GO:0006915)|lipid transport (GO:0006869)|phagocytosis, engulfment (GO:0006911)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	signal transducer activity (GO:0004871)			endometrium(3)|large_intestine(2)|lung(5)|ovary(1)|skin(2)	13			OV - Ovarian serous cystadenocarcinoma(117;0.0423)|Epithelial(96;0.158)			ATTTTGTCTCGACCCGTTAGA	0.318													G|||	1	0.000199681	0.0	0.0	5008	,	,		14806	0.001		0.0	False		,,,				2504	0.0				Pancreas(178;563 2065 20199 42378 52815)												0													103.0	106.0	105.0					2																	189458715		2203	4300	6503	SO:0001583	missense	51454			AF191771	CCDS2295.1, CCDS58742.1, CCDS58743.1	2q32.3-q33	2008-02-05			ENSG00000144366	ENSG00000144366			18649	protein-coding gene	gene with protein product		608165				11729193	Standard	NM_001252668		Approved	CED6, CED-6, GULP	uc010fru.3	Q9UBP9	OTTHUMG00000132647	ENST00000409580.1:c.892G>A	2.37:g.189458715G>A	ENSP00000386289:p.Asp298Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RB51|B4DQ40|B8ZZ72|D3DPH1|E9PB86|Q53PC1|Q53RF3|Q9BVL3	Missense_Mutation	SNP	pfam_PTyr_interaction_dom,pfam_PTB,smart_PTyr_interaction_dom,pfscan_PTyr_interaction_dom	p.D298N	ENST00000409580.1	37	c.892	CCDS2295.1	2	.	.	.	.	.	.	.	.	.	.	G	34	5.387731	0.95988	.	.	ENSG00000144366	ENST00000409830;ENST00000409805;ENST00000359135;ENST00000409580;ENST00000409609	T;T;T;T	0.52983	0.64;0.64;0.64;0.64	5.68	5.68	0.88126	.	0.058418	0.64402	D	0.000002	T	0.69333	0.3099	M	0.69823	2.125	0.58432	D	0.999998	D;D	0.89917	1.0;0.999	D;D	0.75020	0.966;0.985	T	0.71513	-0.4570	10	0.87932	D	0	-6.3357	18.7667	0.91876	0.0:0.0:1.0:0.0	.	195;298	E9PB86;Q9UBP9	.;GULP1_HUMAN	N	298;195;298;298;298	ENSP00000386732:D298N;ENSP00000352047:D298N;ENSP00000386289:D298N;ENSP00000386867:D298N	ENSP00000352047:D298N	D	+	1	0	GULP1	189166960	1.000000	0.71417	0.978000	0.43139	0.997000	0.91878	9.476000	0.97823	2.675000	0.91044	0.655000	0.94253	GAC	GULP1	-	NULL		0.318	GULP1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	GULP1	HGNC	protein_coding	OTTHUMT00000335722.1	G	NM_016315		189458715	+1	no_errors	ENST00000359135	ensembl	human	known	70_37	missense	SNP	1.000	A
GVINP1	387751	genome.wustl.edu	37	11	6738700	6738700	+	RNA	SNP	C	C	G			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr11:6738700C>G	ENST00000526769.3	-	0	4504					NR_003945.1		Q7Z2Y8	GVIN1_HUMAN	GTPase, very large interferon inducible pseudogene 1							cytoplasm (GO:0005737)|nucleus (GO:0005634)	GTP binding (GO:0005525)										GAGACCTTGTCAAAAACAGCT	0.483																																																	0																																												387751			BX538318		11p15.4	2014-03-18	2010-09-28	2010-09-28	ENSG00000254838	ENSG00000254838			25813	pseudogene	pseudogene	"""very large inducible GTPase 1"""		"""GTPase, very large interferon inducible 1"", ""GTPase, very large interferon inducible 1, pseudogene"""	GVIN1, GVIN1P		12874213, 19369598	Standard	NR_003945		Approved	VLIG-1, FLJ13373, VLIG1	uc001meo.4	Q7Z2Y8	OTTHUMG00000165506		11.37:g.6738700C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	A6NFL2|Q9H8N5	RNA	SNP	-	NULL	ENST00000526769.3	37	NULL		11																																																																																			GVINP1	-	-		0.483	GVINP1-002	KNOWN	basic|exp_conf	processed_transcript	GVINP1	HGNC	pseudogene	OTTHUMT00000386960.3	C	NR_003945		6738700	-1	no_errors	ENST00000526769	ensembl	human	known	70_37	rna	SNP	1.000	G
H2BFWT	158983	genome.wustl.edu	37	X	103268214	103268214	+	Missense_Mutation	SNP	G	G	A			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chrX:103268214G>A	ENST00000217926.5	-	1	45	c.19C>T	c.(19-21)Ccc>Tcc	p.P7S	H2BFM_ENST00000243297.5_5'Flank	NM_001002916.3	NP_001002916.3	Q7Z2G1	H2BWT_HUMAN	H2B histone family, member W, testis-specific	7						membrane (GO:0016020)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(2)|endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(1)	16						GGAAGCCGGGGCACTTCGGTA	0.607																																																	0													33.0	28.0	29.0					X																	103268214		2202	4298	6500	SO:0001583	missense	158983			BC038109	CCDS35362.1	Xq22.2	2011-01-27			ENSG00000123569	ENSG00000123569		"""Histones / Replication-independent"""	27252	protein-coding gene	gene with protein product		300507				12477932	Standard	NM_001002916		Approved		uc004elr.3	Q7Z2G1	OTTHUMG00000022120	ENST00000217926.5:c.19C>T	X.37:g.103268214G>A	ENSP00000354723:p.Pro7Ser	Somatic		WXS	Illumina HiSeq	Phase_IV	B1AK72|Q147W3	Missense_Mutation	SNP	pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H2B,prints_Histone_H2B	p.P7S	ENST00000217926.5	37	c.19	CCDS35362.1	X	.	.	.	.	.	.	.	.	.	.	.	2.194	-0.384549	0.04966	.	.	ENSG00000123569	ENST00000217926	T	0.27402	1.67	1.7	-3.4	0.04853	.	.	.	.	.	T	0.12689	0.0308	N	0.14661	0.345	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.14337	-1.0476	9	0.30078	T	0.28	.	0.9219	0.01317	0.2326:0.3175:0.2855:0.1644	.	7	Q7Z2G1	H2BWT_HUMAN	S	7	ENSP00000354723:P7S	ENSP00000354723:P7S	P	-	1	0	H2BFWT	103154870	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-3.825000	0.00357	-2.521000	0.00497	-1.446000	0.01064	CCC	H2BFWT	-	NULL		0.607	H2BFWT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	H2BFWT	HGNC	protein_coding	OTTHUMT00000057756.2	G	NM_001002916		103268214	-1	no_errors	ENST00000217926	ensembl	human	known	70_37	missense	SNP	0.000	A
HCFC1	3054	genome.wustl.edu	37	X	153220407	153220407	+	Missense_Mutation	SNP	C	C	A	rs372862114		TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chrX:153220407C>A	ENST00000310441.7	-	17	4409	c.3443G>T	c.(3442-3444)cGg>cTg	p.R1148L	HCFC1_ENST00000354233.3_Missense_Mutation_p.R1079L|HCFC1_ENST00000369984.4_Missense_Mutation_p.R1148L	NM_005334.2	NP_005325.2	P51610	HCFC1_HUMAN	host cell factor C1	1148					cell cycle (GO:0007049)|chromatin organization (GO:0006325)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell cycle (GO:0045787)|positive regulation of gene expression (GO:0010628)|protein stabilization (GO:0050821)|regulation of protein complex assembly (GO:0043254)|regulation of transcription, DNA-templated (GO:0006355)|release from viral latency (GO:0019046)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|membrane (GO:0016020)|mitochondrion (GO:0005739)|MLL1 complex (GO:0071339)|MLL5-L complex (GO:0070688)|neuronal cell body (GO:0043025)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Set1C/COMPASS complex (GO:0048188)	chromatin binding (GO:0003682)|identical protein binding (GO:0042802)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			NS(1)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(3)|large_intestine(3)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CACACTGATCCGGATCACGGC	0.667																																																	0													11.0	16.0	14.0					X																	153220407		2125	4194	6319	SO:0001583	missense	3054				CCDS44020.1	Xq28	2014-06-12	2014-06-09		ENSG00000172534	ENSG00000172534			4839	protein-coding gene	gene with protein product	"""VP16-accessory protein"", ""protein phosphatase 1, regulatory subunit 89"""	300019	"""mental retardation, X-linked 3"", ""host cell factor C1 (VP16-accessory protein)"""	HFC1, MRX3		8392914, 23000143	Standard	XM_005274664		Approved	HCF-1, HCF1, CFF, VCAF, MGC70925, PPP1R89	uc004fjp.3	P51610	OTTHUMG00000024222	ENST00000310441.7:c.3443G>T	X.37:g.153220407C>A	ENSP00000309555:p.Arg1148Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	Q6P4G5	Missense_Mutation	SNP	pfam_Kelch_2,pfam_Kelch_1,superfamily_Fibronectin_type3,smart_Fibronectin_type3	p.R1148L	ENST00000310441.7	37	c.3443	CCDS44020.1	X	.	.	.	.	.	.	.	.	.	.	c	7.950	0.744717	0.15710	.	.	ENSG00000172534	ENST00000310441;ENST00000369984;ENST00000354233	T;T;T	0.05025	3.56;3.59;3.51	4.91	4.02	0.46733	.	0.428324	0.21345	N	0.076071	T	0.04048	0.0113	N	0.19112	0.55	0.09310	N	1	B	0.27498	0.18	B	0.17433	0.018	T	0.38520	-0.9657	10	0.51188	T	0.08	.	5.8813	0.18856	0.0:0.6967:0.1896:0.1138	.	1148	P51610	HCFC1_HUMAN	L	1148;1148;1079	ENSP00000309555:R1148L;ENSP00000359001:R1148L;ENSP00000346174:R1079L	ENSP00000309555:R1148L	R	-	2	0	HCFC1	152873601	0.086000	0.21541	0.018000	0.16275	0.202000	0.24057	1.720000	0.38022	0.829000	0.34733	0.525000	0.51046	CGG	HCFC1	-	NULL		0.667	HCFC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HCFC1	HGNC	protein_coding	OTTHUMT00000061099.4	C	NM_005334		153220407	-1	no_errors	ENST00000310441	ensembl	human	known	70_37	missense	SNP	0.016	A
HCFC1	3054	genome.wustl.edu	37	X	153223487	153223487	+	Missense_Mutation	SNP	C	C	T			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chrX:153223487C>T	ENST00000310441.7	-	11	2983	c.2017G>A	c.(2017-2019)Ggc>Agc	p.G673S	HCFC1_ENST00000354233.3_Missense_Mutation_p.G604S|HCFC1_ENST00000369984.4_Missense_Mutation_p.G673S|HCFC1_ENST00000461098.1_5'Flank	NM_005334.2	NP_005325.2	P51610	HCFC1_HUMAN	host cell factor C1	673	Interaction with SIN3A.				cell cycle (GO:0007049)|chromatin organization (GO:0006325)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell cycle (GO:0045787)|positive regulation of gene expression (GO:0010628)|protein stabilization (GO:0050821)|regulation of protein complex assembly (GO:0043254)|regulation of transcription, DNA-templated (GO:0006355)|release from viral latency (GO:0019046)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|membrane (GO:0016020)|mitochondrion (GO:0005739)|MLL1 complex (GO:0071339)|MLL5-L complex (GO:0070688)|neuronal cell body (GO:0043025)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Set1C/COMPASS complex (GO:0048188)	chromatin binding (GO:0003682)|identical protein binding (GO:0042802)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			NS(1)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(3)|large_intestine(3)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					AGAGCACTGCCTCCTGGGACA	0.642																																																	0													40.0	41.0	40.0					X																	153223487		2084	4188	6272	SO:0001583	missense	3054				CCDS44020.1	Xq28	2014-06-12	2014-06-09		ENSG00000172534	ENSG00000172534			4839	protein-coding gene	gene with protein product	"""VP16-accessory protein"", ""protein phosphatase 1, regulatory subunit 89"""	300019	"""mental retardation, X-linked 3"", ""host cell factor C1 (VP16-accessory protein)"""	HFC1, MRX3		8392914, 23000143	Standard	XM_005274664		Approved	HCF-1, HCF1, CFF, VCAF, MGC70925, PPP1R89	uc004fjp.3	P51610	OTTHUMG00000024222	ENST00000310441.7:c.2017G>A	X.37:g.153223487C>T	ENSP00000309555:p.Gly673Ser	Somatic		WXS	Illumina HiSeq	Phase_IV	Q6P4G5	Missense_Mutation	SNP	pfam_Kelch_2,pfam_Kelch_1,superfamily_Fibronectin_type3,smart_Fibronectin_type3	p.G673S	ENST00000310441.7	37	c.2017	CCDS44020.1	X	.	.	.	.	.	.	.	.	.	.	C	20.2	3.941361	0.73557	.	.	ENSG00000172534	ENST00000310441;ENST00000369984;ENST00000354233	T;T;T	0.04015	3.98;3.97;3.73	5.43	4.57	0.56435	.	0.266646	0.43110	D	0.000601	T	0.03348	0.0097	N	0.12746	0.255	0.49582	D	0.999803	B	0.23891	0.093	B	0.17979	0.02	T	0.52155	-0.8613	10	0.30854	T	0.27	.	11.9478	0.52938	0.0:0.9127:0.0:0.0872	.	673	P51610	HCFC1_HUMAN	S	673;673;604	ENSP00000309555:G673S;ENSP00000359001:G673S;ENSP00000346174:G604S	ENSP00000309555:G673S	G	-	1	0	HCFC1	152876681	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	3.397000	0.52572	1.063000	0.40649	0.544000	0.68410	GGC	HCFC1	-	NULL		0.642	HCFC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HCFC1	HGNC	protein_coding	OTTHUMT00000061099.4	C	NM_005334		153223487	-1	no_errors	ENST00000310441	ensembl	human	known	70_37	missense	SNP	1.000	T
HCFC2	29915	genome.wustl.edu	37	12	104476567	104476567	+	Silent	SNP	C	C	T			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr12:104476567C>T	ENST00000229330.4	+	7	1055	c.951C>T	c.(949-951)ggC>ggT	p.G317G		NM_013320.2	NP_037452.1	Q9Y5Z7	HCFC2_HUMAN	host cell factor C2	317					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	transcription coactivator activity (GO:0003713)			breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(6)|lung(14)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	35						CAAGAGCTGGCCACTGTGCTG	0.408																																					Esophageal Squamous(184;1814 2036 4771 6974 15702)												0													77.0	79.0	78.0					12																	104476567		2203	4300	6503	SO:0001819	synonymous_variant	29915			AF117210	CCDS9097.1	12q23.3	2011-03-30			ENSG00000111727	ENSG00000111727			24972	protein-coding gene	gene with protein product		607926				10196288	Standard	NM_013320		Approved	HCF-2	uc001tkj.4	Q9Y5Z7	OTTHUMG00000170175	ENST00000229330.4:c.951C>T	12.37:g.104476567C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B2R8Q5|C0H5X3	Silent	SNP	pfam_Kelch_1,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	p.G317	ENST00000229330.4	37	c.951	CCDS9097.1	12																																																																																			HCFC2	-	NULL		0.408	HCFC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HCFC2	HGNC	protein_coding	OTTHUMT00000407780.1	C	NM_013320		104476567	+1	no_errors	ENST00000229330	ensembl	human	known	70_37	silent	SNP	0.607	T
HDAC4	9759	genome.wustl.edu	37	2	240002874	240002874	+	Silent	SNP	G	G	A			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr2:240002874G>A	ENST00000345617.3	-	22	3443	c.2652C>T	c.(2650-2652)ccC>ccT	p.P884P	HDAC4_ENST00000543185.1_Silent_p.P468P	NM_006037.3	NP_006028.2	P56524	HDAC4_HUMAN	histone deacetylase 4	884	Histone deacetylase.				B cell activation (GO:0042113)|B cell differentiation (GO:0030183)|cardiac muscle hypertrophy in response to stress (GO:0014898)|chromatin remodeling (GO:0006338)|histone deacetylation (GO:0016575)|histone H3 deacetylation (GO:0070932)|histone H4 deacetylation (GO:0070933)|inflammatory response (GO:0006954)|negative regulation of cell proliferation (GO:0008285)|negative regulation of glycolytic process (GO:0045820)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|osteoblast development (GO:0002076)|peptidyl-lysine deacetylation (GO:0034983)|positive regulation of cell proliferation (GO:0008284)|positive regulation of protein sumoylation (GO:0033235)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of gene expression, epigenetic (GO:0040029)|regulation of protein binding (GO:0043393)|regulation of skeletal muscle fiber development (GO:0048742)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|response to drug (GO:0042493)|response to interleukin-1 (GO:0070555)|skeletal system development (GO:0001501)|transcription, DNA-templated (GO:0006351)	A band (GO:0031672)|actomyosin (GO:0042641)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|histone deacetylase complex (GO:0000118)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)|Z disc (GO:0030018)	activating transcription factor binding (GO:0033613)|core promoter binding (GO:0001047)|histone deacetylase activity (GO:0004407)|histone deacetylase binding (GO:0042826)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|potassium ion binding (GO:0030955)|protein deacetylase activity (GO:0033558)|repressing transcription factor binding (GO:0070491)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(5)	62		all_epithelial(40;1.45e-17)|Breast(86;1.53e-05)|Renal(207;0.000355)|all_lung(227;0.0121)|Ovarian(221;0.0183)|Lung NSC(271;0.0413)|Melanoma(123;0.0749)|all_hematologic(139;0.159)		Epithelial(121;6.38e-25)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-12)|Kidney(56;6.04e-08)|KIRC - Kidney renal clear cell carcinoma(57;1.18e-06)|BRCA - Breast invasive adenocarcinoma(100;3.99e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.04)		AACCCACGCCGGGCCCTGTGC	0.647																																																	0													29.0	32.0	31.0					2																	240002874		2203	4300	6503	SO:0001819	synonymous_variant	9759			AB006626	CCDS2529.1	2q37.3	2014-02-12			ENSG00000068024	ENSG00000068024			14063	protein-coding gene	gene with protein product		605314	"""brachydactyly-mental retardation syndrome"""	BDMR		10206986, 10220385, 20691407	Standard	NM_006037		Approved	KIAA0288, HDAC-A, HDACA, HD4, HA6116, HDAC-4	uc002vyk.4	P56524	OTTHUMG00000133344	ENST00000345617.3:c.2652C>T	2.37:g.240002874G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q9UND6	Silent	SNP	pfam_His_deacetylse_dom,pfam_Hist_deacetylase_Gln_rich_N,pfam_Arb2_domain,pirsf_Histone_deAcase_II_euk,prints_His_deacetylse	p.P884	ENST00000345617.3	37	c.2652	CCDS2529.1	2																																																																																			HDAC4	-	pfam_His_deacetylse_dom,pirsf_Histone_deAcase_II_euk		0.647	HDAC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HDAC4	HGNC	protein_coding	OTTHUMT00000257174.2	G	NM_006037		240002874	-1	no_errors	ENST00000345617	ensembl	human	known	70_37	silent	SNP	0.673	A
HDAC6	10013	genome.wustl.edu	37	X	48663867	48663867	+	Missense_Mutation	SNP	C	C	A			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chrX:48663867C>A	ENST00000334136.5	+	5	512	c.334C>A	c.(334-336)Ctc>Atc	p.L112I	HDAC6_ENST00000469223.1_3'UTR|HDAC6_ENST00000413163.2_Missense_Mutation_p.L57I|HDAC6_ENST00000444343.2_Missense_Mutation_p.L126I|HDAC6_ENST00000376619.2_Missense_Mutation_p.L112I			Q9UBN7	HDAC6_HUMAN	histone deacetylase 6	112	Histone deacetylase 1.				aggresome assembly (GO:0070842)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to misfolded protein (GO:0071218)|cellular response to topologically incorrect protein (GO:0035967)|histone deacetylation (GO:0016575)|Hsp90 deacetylation (GO:0070846)|intracellular protein transport (GO:0006886)|lysosome localization (GO:0032418)|macroautophagy (GO:0016236)|misfolded or incompletely synthesized protein catabolic process (GO:0006515)|negative regulation of hydrogen peroxide metabolic process (GO:0010727)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of oxidoreductase activity (GO:0051354)|negative regulation of protein complex disassembly (GO:0043242)|negative regulation of proteolysis (GO:0045861)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-lysine deacetylation (GO:0034983)|polyubiquitinated misfolded protein transport (GO:0070845)|positive regulation of chaperone-mediated protein complex assembly (GO:0090035)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of hydrogen peroxide-mediated programmed cell death (GO:1901300)|positive regulation of receptor biosynthetic process (GO:0010870)|positive regulation of signal transduction (GO:0009967)|protein complex disassembly (GO:0043241)|protein deacetylation (GO:0006476)|protein polyubiquitination (GO:0000209)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of establishment of protein localization (GO:0070201)|regulation of gene expression, epigenetic (GO:0040029)|regulation of microtubule-based movement (GO:0060632)|regulation of receptor activity (GO:0010469)|response to growth factor (GO:0070848)|response to misfolded protein (GO:0051788)|response to organic substance (GO:0010033)|response to toxic substance (GO:0009636)|transcription, DNA-templated (GO:0006351)|tubulin deacetylation (GO:0090042)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)	aggresome (GO:0016235)|axon (GO:0030424)|caveola (GO:0005901)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|dendrite (GO:0030425)|histone deacetylase complex (GO:0000118)|inclusion body (GO:0016234)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|nucleus (GO:0005634)|perikaryon (GO:0043204)|perinuclear region of cytoplasm (GO:0048471)	alpha-tubulin binding (GO:0043014)|beta-catenin binding (GO:0008013)|core promoter binding (GO:0001047)|dynein complex binding (GO:0070840)|enzyme binding (GO:0019899)|histone deacetylase activity (GO:0004407)|histone deacetylase binding (GO:0042826)|Hsp90 protein binding (GO:0051879)|microtubule binding (GO:0008017)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|polyubiquitin binding (GO:0031593)|tau protein binding (GO:0048156)|tubulin deacetylase activity (GO:0042903)|zinc ion binding (GO:0008270)			breast(2)|endometrium(6)|kidney(5)|large_intestine(8)|lung(9)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	40					Vorinostat(DB02546)	CCCTGAGCGGCTCCATGCCAT	0.592																																					Pancreas(112;205 1675 2305 8976 15959)												0													57.0	45.0	49.0					X																	48663867		2203	4300	6503	SO:0001583	missense	10013			AF132609	CCDS14306.1	Xp11.23	2014-06-12			ENSG00000094631	ENSG00000094631			14064	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 90"""	300272				10220385, 10048485	Standard	NM_006044		Approved	KIAA0901, JM21, HD6, FLJ16239, PPP1R90	uc004dks.1	Q9UBN7	OTTHUMG00000034496	ENST00000334136.5:c.334C>A	X.37:g.48663867C>A	ENSP00000334061:p.Leu112Ile	Somatic		WXS	Illumina HiSeq	Phase_IV	O94975|Q6NT75|Q7L3E5|Q96CY0	Missense_Mutation	SNP	pfam_His_deacetylse_dom,pfam_Znf_UBP,smart_Znf_UBP,pfscan_Znf_UBP,prints_His_deacetylse	p.L126I	ENST00000334136.5	37	c.376	CCDS14306.1	X	.	.	.	.	.	.	.	.	.	.	C	10.73	1.432167	0.25813	.	.	ENSG00000094631	ENST00000423941;ENST00000376643;ENST00000444343;ENST00000376610;ENST00000334136;ENST00000376619;ENST00000436813;ENST00000413163;ENST00000441703;ENST00000426196;ENST00000443563;ENST00000440653	T;T;T;T;T;T;T;T;T;T	0.70516	-0.49;-0.49;-0.49;-0.49;-0.49;-0.49;-0.49;-0.49;-0.49;-0.49	4.16	3.28	0.37604	Histone deacetylase domain (2);	0.423027	0.20167	N	0.097836	T	0.53706	0.1813	L	0.38953	1.18	0.27156	N	0.961292	B;B;B;P	0.39759	0.004;0.02;0.004;0.687	B;B;B;B	0.39503	0.024;0.042;0.024;0.301	T	0.41698	-0.9494	10	0.22109	T	0.4	-17.9456	3.7772	0.08665	0.2451:0.626:0.0:0.1289	.	102;57;112;112	B4DZN1;E7EUZ1;Q9UBN7;Q9BRX7	.;.;HDAC6_HUMAN;.	I	112;112;126;112;112;112;112;57;112;112;112;112	ENSP00000365831:L112I;ENSP00000398566:L126I;ENSP00000365795:L112I;ENSP00000334061:L112I;ENSP00000365804:L112I;ENSP00000398801:L57I;ENSP00000393916:L112I;ENSP00000402189:L112I;ENSP00000402751:L112I;ENSP00000394377:L112I	ENSP00000334061:L112I	L	+	1	0	HDAC6	48548811	1.000000	0.71417	0.997000	0.53966	0.694000	0.40290	0.923000	0.28757	2.023000	0.59567	0.292000	0.19580	CTC	HDAC6	-	pfam_His_deacetylse_dom		0.592	HDAC6-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	HDAC6	HGNC	protein_coding	OTTHUMT00000083394.2	C	NM_006044		48663867	+1	no_errors	ENST00000444343	ensembl	human	known	70_37	missense	SNP	1.000	A
HDLBP	3069	genome.wustl.edu	37	2	242173318	242173318	+	Missense_Mutation	SNP	C	C	T			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr2:242173318C>T	ENST00000391975.1	-	24	3432	c.3205G>A	c.(3205-3207)Ggg>Agg	p.G1069R	HDLBP_ENST00000391976.2_Missense_Mutation_p.G1069R|HDLBP_ENST00000427183.2_Missense_Mutation_p.G1036R|HDLBP_ENST00000310931.4_Missense_Mutation_p.G1069R	NM_203346.3	NP_976221	Q00341	VIGLN_HUMAN	high density lipoprotein binding protein	1069	KH 13. {ECO:0000255|PROSITE- ProRule:PRU00117}.				cholesterol metabolic process (GO:0008203)|lipid transport (GO:0006869)	cytoplasm (GO:0005737)|high-density lipoprotein particle (GO:0034364)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	lipid binding (GO:0008289)|poly(A) RNA binding (GO:0044822)	p.G1069W(1)		breast(7)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(11)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		all_cancers(19;7.77e-41)|all_epithelial(40;1.74e-18)|Breast(86;1.53e-05)|Renal(207;0.00179)|all_lung(227;0.00338)|Ovarian(221;0.00556)|Lung NSC(271;0.0121)|Esophageal squamous(248;0.129)|all_hematologic(139;0.158)|Melanoma(123;0.16)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;8.13e-34)|all cancers(36;4.71e-31)|OV - Ovarian serous cystadenocarcinoma(60;2.34e-15)|Kidney(56;3.72e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.76e-08)|BRCA - Breast invasive adenocarcinoma(100;3.38e-06)|Lung(119;0.000109)|LUSC - Lung squamous cell carcinoma(224;0.000964)|Colorectal(34;0.0132)|COAD - Colon adenocarcinoma(134;0.0928)		CCCTTTCTCCCGATAATCTTG	0.473																																																	1	Substitution - Missense(1)	lung(1)											171.0	155.0	161.0					2																	242173318		2203	4300	6503	SO:0001583	missense	3069				CCDS2547.1, CCDS58760.1	2q37.3	2008-07-18	2008-07-18		ENSG00000115677	ENSG00000115677			4857	protein-coding gene	gene with protein product		142695	"""vigilin"""	VGL		1318310, 8390966	Standard	NM_005336		Approved	HBP	uc002waz.3	Q00341	OTTHUMG00000133391	ENST00000391975.1:c.3205G>A	2.37:g.242173318C>T	ENSP00000375836:p.Gly1069Arg	Somatic		WXS	Illumina HiSeq	Phase_IV	B4DTQ2|E7EM71|Q53QU2|Q9UCY3	Missense_Mutation	SNP	pfam_KH_dom_type_1,smart_KH_dom,pfscan_KH_dom_type_1	p.G1069R	ENST00000391975.1	37	c.3205	CCDS2547.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.84|19.84	3.902790|3.902790	0.72754|0.72754	.|.	.|.	ENSG00000115677|ENSG00000115677	ENST00000391975;ENST00000391976;ENST00000310931;ENST00000427183|ENST00000373292	D;D;D;D|.	0.88664|.	-2.41;-2.41;-2.41;-2.41|.	5.56|5.56	5.56|5.56	0.83823|0.83823	K Homology (1);K Homology, type 1, subgroup (1);K Homology, type 1 (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.87233|0.87233	0.6126|0.6126	M|M	0.93420|0.93420	3.415|3.415	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.97110|.	1.0;1.0|.	D|D	0.90091|0.90091	0.4177|0.4177	10|5	0.87932|.	D|.	0|.	-32.9522|-32.9522	19.5308|19.5308	0.95228|0.95228	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	1036;1069|.	E7EM71;Q00341|.	.;VIGLN_HUMAN|.	R|Q	1069;1069;1069;1036|877	ENSP00000375836:G1069R;ENSP00000375837:G1069R;ENSP00000312042:G1069R;ENSP00000399139:G1036R|.	ENSP00000312042:G1069R|.	G|R	-|-	1|2	0|0	HDLBP|HDLBP	241821991|241821991	1.000000|1.000000	0.71417|0.71417	0.140000|0.140000	0.22221|0.22221	0.229000|0.229000	0.25112|0.25112	7.721000|7.721000	0.84768|0.84768	2.630000|2.630000	0.89119|0.89119	0.563000|0.563000	0.77884|0.77884	GGG|CGG	HDLBP	-	pfam_KH_dom_type_1,smart_KH_dom,pfscan_KH_dom_type_1		0.473	HDLBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HDLBP	HGNC	protein_coding	OTTHUMT00000257245.5	C	NM_203346		242173318	-1	no_errors	ENST00000310931	ensembl	human	known	70_37	missense	SNP	1.000	T
HELZ2	85441	genome.wustl.edu	37	20	62192044	62192044	+	Missense_Mutation	SNP	C	C	T			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr20:62192044C>T	ENST00000467148.1	-	16	7357	c.7288G>A	c.(7288-7290)Ggc>Agc	p.G2430S	HELZ2_ENST00000427522.2_Missense_Mutation_p.G1861S	NM_001037335.2	NP_001032412.2	Q9BYK8	HELZ2_HUMAN	helicase with zinc finger 2, transcriptional coactivator	2430	Interaction with THRAP3.				cellular lipid metabolic process (GO:0044255)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	membrane (GO:0016020)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)										GCACAGATGCCCTCATGCTGC	0.682																																																	0													49.0	51.0	50.0					20																	62192044		2203	4300	6503	SO:0001583	missense	85441			AB201715	CCDS13527.1, CCDS33508.1	20q13.33	2012-09-26			ENSG00000130589	ENSG00000130589			30021	protein-coding gene	gene with protein product	"""peroxisomal proliferator activated receptor A interacting complex 285"", ""PPARG-DBD-interacting protein 1"""	611265				11214970, 12189208, 16239304	Standard	NM_001037335		Approved	PDIP1, PRIC285, KIAA1769	uc002yfm.2	Q9BYK8	OTTHUMG00000032969	ENST00000467148.1:c.7288G>A	20.37:g.62192044C>T	ENSP00000417401:p.Gly2430Ser	Somatic		WXS	Illumina HiSeq	Phase_IV	Q3C2G2|Q4VXQ1|Q8TEF3|Q96ND3|Q9C094	Missense_Mutation	SNP	pfam_RNase_II/R,smart_RNase_II/R	p.G2430S	ENST00000467148.1	37	c.7288	CCDS33508.1	20	.	.	.	.	.	.	.	.	.	.	C	10.11	1.259962	0.23051	.	.	ENSG00000130589	ENST00000427522;ENST00000467148	D;D	0.81579	-1.51;-1.51	3.91	3.91	0.45181	ATPase, AAA+ type, core (1);	0.882675	0.09722	N	0.764275	T	0.51126	0.1656	N	0.01257	-0.925	0.21841	N	0.999512	B;B	0.18310	0.027;0.022	B;B	0.20384	0.029;0.01	T	0.46707	-0.9172	10	0.06891	T	0.86	-11.6463	7.3476	0.26672	0.0:0.7841:0.0:0.2159	.	2430;1861	Q9BYK8;Q9BYK8-2	PR285_HUMAN;.	S	1861;2430	ENSP00000393257:G1861S;ENSP00000417401:G2430S	ENSP00000393257:G1861S	G	-	1	0	RP4-697K14.7	61662488	0.248000	0.23930	0.886000	0.34754	0.663000	0.39108	2.658000	0.46733	1.754000	0.51921	0.491000	0.48974	GGC	HELZ2	-	NULL		0.682	HELZ2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	HELZ2	HGNC	protein_coding	OTTHUMT00000354127.1	C	NM_001037335		62192044	-1	no_errors	ENST00000467148	ensembl	human	known	70_37	missense	SNP	0.649	T
HELZ2	85441	genome.wustl.edu	37	20	62195033	62195033	+	Silent	SNP	G	G	A			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr20:62195033G>A	ENST00000467148.1	-	8	5211	c.5142C>T	c.(5140-5142)caC>caT	p.H1714H	HELZ2_ENST00000427522.2_Silent_p.H1145H	NM_001037335.2	NP_001032412.2	Q9BYK8	HELZ2_HUMAN	helicase with zinc finger 2, transcriptional coactivator	1714					cellular lipid metabolic process (GO:0044255)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)	membrane (GO:0016020)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)										GGGCAAGTGCGTGCTGGAGGC	0.677																																																	0													10.0	12.0	11.0					20																	62195033		2164	4277	6441	SO:0001819	synonymous_variant	85441			AB201715	CCDS13527.1, CCDS33508.1	20q13.33	2012-09-26			ENSG00000130589	ENSG00000130589			30021	protein-coding gene	gene with protein product	"""peroxisomal proliferator activated receptor A interacting complex 285"", ""PPARG-DBD-interacting protein 1"""	611265				11214970, 12189208, 16239304	Standard	NM_001037335		Approved	PDIP1, PRIC285, KIAA1769	uc002yfm.2	Q9BYK8	OTTHUMG00000032969	ENST00000467148.1:c.5142C>T	20.37:g.62195033G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q3C2G2|Q4VXQ1|Q8TEF3|Q96ND3|Q9C094	Silent	SNP	pfam_RNase_II/R,smart_RNase_II/R	p.H1714	ENST00000467148.1	37	c.5142	CCDS33508.1	20																																																																																			HELZ2	-	NULL		0.677	HELZ2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	HELZ2	HGNC	protein_coding	OTTHUMT00000354127.1	G	NM_001037335		62195033	-1	no_errors	ENST00000467148	ensembl	human	known	70_37	silent	SNP	0.000	A
HEPHL1	341208	genome.wustl.edu	37	11	93796772	93796772	+	Missense_Mutation	SNP	T	T	A			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr11:93796772T>A	ENST00000315765.9	+	3	522	c.514T>A	c.(514-516)Tat>Aat	p.Y172N		NM_001098672.1	NP_001092142.1	Q6MZM0	HPHL1_HUMAN	hephaestin-like 1	172	Plastocyanin-like 1.				copper ion transport (GO:0006825)|oxidation-reduction process (GO:0055114)	integral component of membrane (GO:0016021)	copper ion binding (GO:0005507)|ferroxidase activity (GO:0004322)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(25)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	61		Acute lymphoblastic leukemia(157;2.34e-05)|all_hematologic(158;0.00824)				GAGAGAAGAATATGCACCTAC	0.532																																																	0													70.0	73.0	72.0					11																	93796772		1960	4158	6118	SO:0001583	missense	341208			BX641008	CCDS44710.1	11q21	2008-02-05			ENSG00000181333	ENSG00000181333			30477	protein-coding gene	gene with protein product							Standard	NM_001098672		Approved	DKFZp686F22190	uc001pep.2	Q6MZM0	OTTHUMG00000167751	ENST00000315765.9:c.514T>A	11.37:g.93796772T>A	ENSP00000313699:p.Tyr172Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	Q3C1W7	Missense_Mutation	SNP	pfam_Cu-oxidase_3,pfam_Cu-oxidase_2,superfamily_Cupredoxin	p.Y172N	ENST00000315765.9	37	c.514	CCDS44710.1	11	.	.	.	.	.	.	.	.	.	.	T	17.18	3.323767	0.60634	.	.	ENSG00000181333	ENST00000315765	D	0.98567	-5.0	5.42	4.3	0.51218	Cupredoxin (2);Multicopper oxidase, type 3 (1);	0.058158	0.64402	D	0.000001	D	0.95825	0.8641	N	0.20807	0.61	0.45930	D	0.998765	P	0.44044	0.825	P	0.48738	0.588	D	0.93554	0.6889	10	0.26408	T	0.33	.	11.1295	0.48339	0.0:0.0721:0.0:0.9278	.	172	Q6MZM0	HPHL1_HUMAN	N	172	ENSP00000313699:Y172N	ENSP00000313699:Y172N	Y	+	1	0	HEPHL1	93436420	1.000000	0.71417	0.773000	0.31616	0.683000	0.39861	6.036000	0.70948	0.910000	0.36722	0.533000	0.62120	TAT	HEPHL1	-	pfam_Cu-oxidase_3,superfamily_Cupredoxin		0.532	HEPHL1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	HEPHL1	HGNC	protein_coding	OTTHUMT00000396103.2	T	XM_291947		93796772	+1	no_errors	ENST00000315765	ensembl	human	known	70_37	missense	SNP	0.998	A
HERC5	51191	genome.wustl.edu	37	4	89408255	89408255	+	Missense_Mutation	SNP	C	C	G			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr4:89408255C>G	ENST00000264350.3	+	15	2040	c.1887C>G	c.(1885-1887)ttC>ttG	p.F629L	HERC5_ENST00000508159.1_Missense_Mutation_p.F267L	NM_016323.3	NP_057407.2	Q9UII4	HERC5_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 5	629					cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|innate immune response (GO:0045087)|ISG15-protein conjugation (GO:0032020)|negative regulation of type I interferon production (GO:0032480)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of defense response to virus (GO:0050688)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ISG15 ligase activity (GO:0042296)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)			NS(2)|breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|liver(2)|lung(17)|ovary(4)|prostate(1)|skin(4)	53		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000209)		GCGTCATATTCAGTCACTTTC	0.313																																					Esophageal Squamous(39;887 1012 34045 50514)												0													96.0	95.0	96.0					4																	89408255		2203	4298	6501	SO:0001583	missense	51191			AB027289	CCDS3630.1	4q22.1-q23	2012-02-23	2012-02-23		ENSG00000138646	ENSG00000138646			24368	protein-coding gene	gene with protein product		608242	"""hect domain and RLD 5"""			10581175	Standard	NM_016323		Approved	CEB1	uc003hrt.4	Q9UII4	OTTHUMG00000130953	ENST00000264350.3:c.1887C>G	4.37:g.89408255C>G	ENSP00000264350:p.Phe629Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RTQ1|Q69G20	Missense_Mutation	SNP	pfam_HECT,pfam_Reg_chr_condens,superfamily_HECT,superfamily_Reg_csome_cond/b-lactamase_inh,superfamily_Haem_Oase-like_multi-hlx,smart_HECT,pfscan_HECT,pfscan_Reg_chr_condens,prints_Reg_chr_condens	p.F629L	ENST00000264350.3	37	c.1887	CCDS3630.1	4	.	.	.	.	.	.	.	.	.	.	C	4.521	0.096705	0.08681	.	.	ENSG00000138646	ENST00000264350;ENST00000508159	T;T	0.81415	-1.49;-1.49	4.33	3.48	0.39840	.	0.311140	0.27447	N	0.019321	T	0.77336	0.4115	M	0.73962	2.25	0.25373	N	0.988683	B	0.20368	0.044	B	0.24269	0.052	T	0.61257	-0.7099	10	0.13853	T	0.58	.	11.3776	0.49737	0.0:0.9053:0.0:0.0947	.	629	Q9UII4	HERC5_HUMAN	L	629;267	ENSP00000264350:F629L;ENSP00000424129:F267L	ENSP00000264350:F629L	F	+	3	2	HERC5	89627278	1.000000	0.71417	0.992000	0.48379	0.030000	0.12068	1.358000	0.34102	0.780000	0.33566	-1.094000	0.02160	TTC	HERC5	-	NULL		0.313	HERC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HERC5	HGNC	protein_coding	OTTHUMT00000253554.2	C	NM_016323		89408255	+1	no_errors	ENST00000264350	ensembl	human	known	70_37	missense	SNP	0.997	G
HFM1	164045	genome.wustl.edu	37	1	91781501	91781501	+	Missense_Mutation	SNP	T	T	G			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr1:91781501T>G	ENST00000370425.3	-	28	3109	c.3011A>C	c.(3010-3012)gAa>gCa	p.E1004A	HFM1_ENST00000462405.1_5'UTR|HFM1_ENST00000294696.5_Missense_Mutation_p.E236A|HFM1_ENST00000370424.3_Missense_Mutation_p.E683A	NM_001017975.3	NP_001017975.3	A2PYH4	HFM1_HUMAN	HFM1, ATP-dependent DNA helicase homolog (S. cerevisiae)	1004	SEC63.				resolution of meiotic recombination intermediates (GO:0000712)		ATP binding (GO:0005524)|helicase activity (GO:0004386)|nucleic acid binding (GO:0003676)			breast(4)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(17)|lung(33)|ovary(1)|prostate(3)|skin(2)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	75		all_lung(203;0.00961)|Lung NSC(277;0.0351)		all cancers(265;0.000481)|Epithelial(280;0.00863)|OV - Ovarian serous cystadenocarcinoma(397;0.126)|KIRC - Kidney renal clear cell carcinoma(1967;0.171)		CACTAATATTTCTGCCGTCGT	0.313																																																	0													56.0	56.0	56.0					1																	91781501		2201	4298	6499	SO:0001583	missense	164045			AB204867	CCDS30769.2	1p22.2	2008-03-26			ENSG00000162669	ENSG00000162669			20193	protein-coding gene	gene with protein product		615684	"""SEC63 domain containing 1"""	SEC63D1		14702039, 17286053	Standard	XM_006710395		Approved	MER3, FLJ39011, FLJ36760	uc001doa.4	A2PYH4	OTTHUMG00000010093	ENST00000370425.3:c.3011A>C	1.37:g.91781501T>G	ENSP00000359454:p.Glu1004Ala	Somatic		WXS	Illumina HiSeq	Phase_IV	B1B0B6|Q8N9Q0	Missense_Mutation	SNP	pfam_Sec63-dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,pfam_Helicase/UvrB_dom,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Sec63-dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.E1004A	ENST00000370425.3	37	c.3011	CCDS30769.2	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	9.030|9.030	0.987136|0.987136	0.18889|0.18889	.|.	.|.	ENSG00000162669|ENSG00000162669	ENST00000370425;ENST00000294696;ENST00000370424;ENST00000370421|ENST00000430465	T;T;T|.	0.60920|.	0.15;0.15;0.15|.	5.25|5.25	4.09|4.09	0.47781|0.47781	Sec63 domain (2);|.	0.132552|.	0.48767|.	D|.	0.000167|.	T|T	0.51329|0.51329	0.1668|0.1668	M|M	0.64404|0.64404	1.975|1.975	0.46981|0.46981	D|D	0.999277|0.999277	P;P;B|.	0.42584|.	0.749;0.784;0.117|.	B;P;B|.	0.46796|.	0.219;0.527;0.124|.	T|T	0.51679|0.51679	-0.8675|-0.8675	10|5	0.48119|.	T|.	0.1|.	.|.	11.1337|11.1337	0.48362|0.48362	0.0:0.074:0.0:0.926|0.0:0.074:0.0:0.926	.|.	683;215;1004|.	A6NGI5;B1B0B5;A2PYH4|.	.;.;HFM1_HUMAN|.	A|Q	1004;236;683;688|216	ENSP00000359454:E1004A;ENSP00000294696:E236A;ENSP00000359453:E683A|.	ENSP00000294696:E236A|.	E|K	-|-	2|1	0|0	HFM1|HFM1	91554089|91554089	1.000000|1.000000	0.71417|0.71417	0.994000|0.994000	0.49952|0.49952	0.038000|0.038000	0.13279|0.13279	5.761000|5.761000	0.68801|0.68801	0.808000|0.808000	0.34231|0.34231	0.377000|0.377000	0.23210|0.23210	GAA|AAA	HFM1	-	pfam_Sec63-dom,smart_Sec63-dom		0.313	HFM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	HFM1	HGNC	protein_coding	OTTHUMT00000316716.2	T	NM_001017975		91781501	-1	no_errors	ENST00000370425	ensembl	human	known	70_37	missense	SNP	1.000	G
HIAT1	64645	genome.wustl.edu	37	1	100534122	100534122	+	Frame_Shift_Del	DEL	T	T	-			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr1:100534122delT	ENST00000370152.3	+	7	935	c.799delT	c.(799-801)tttfs	p.F268fs	RP4-714D9.2_ENST00000432294.1_RNA	NM_033055.2	NP_149044.2	Q96MC6	HIAT1_HUMAN	hippocampus abundant transcript 1	268					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(8)|skin(1)	16		all_epithelial(167;2.96e-06)|all_lung(203;0.00125)|Lung NSC(277;0.00131)		Epithelial(280;0.0832)|all cancers(265;0.136)|COAD - Colon adenocarcinoma(174;0.148)|Lung(183;0.195)		ATATTCCAGCTTTTTTTTATA	0.388																																																	0													119.0	117.0	118.0					1																	100534122		2203	4300	6503	SO:0001589	frameshift_variant	64645			AK096669	CCDS763.1	1p21.3	2008-02-05			ENSG00000156875	ENSG00000156875			23363	protein-coding gene	gene with protein product						9299464	Standard	NM_033055		Approved	DKFZP564L0864	uc001dst.3	Q96MC6	OTTHUMG00000010755	ENST00000370152.3:c.799delT	1.37:g.100534122delT	ENSP00000359171:p.Phe268fs	Somatic		WXS	Illumina HiSeq	Phase_IV	Q6P2N7|Q8N8K2|Q8NBV3|Q96NY0|Q9NT25	Frame_Shift_Del	DEL	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,prints_Tet-R_TetA/multi-R_MdtG	p.L269fs	ENST00000370152.3	37	c.799	CCDS763.1	1																																																																																			HIAT1	-	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom		0.388	HIAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIAT1	HGNC	protein_coding	OTTHUMT00000029657.1	T	NM_033055		100534122	+1	no_errors	ENST00000370152	ensembl	human	known	70_37	frame_shift_del	DEL	1.000	-
HID1	283987	genome.wustl.edu	37	17	72952038	72952038	+	Silent	SNP	G	G	A			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr17:72952038G>A	ENST00000425042.2	-	13	1562	c.1485C>T	c.(1483-1485)ctC>ctT	p.L495L		NM_030630.2	NP_085133.1	Q8IV36	HID1_HUMAN	HID1 domain containing	495					intracellular protein transport (GO:0006886)|response to brefeldin A (GO:0031001)	cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|extracellular vesicular exosome (GO:0070062)|extrinsic component of Golgi membrane (GO:0090498)|Golgi apparatus (GO:0005794)|Golgi medial cisterna (GO:0005797)|Golgi trans cisterna (GO:0000138)											ACAGGCTCTTGAGGTAGGGGG	0.627																																																	0													105.0	101.0	102.0					17																	72952038		2203	4300	6503	SO:0001819	synonymous_variant	283987				CCDS32726.1	17q25.1	2012-10-10	2012-10-10	2012-10-10	ENSG00000167861	ENSG00000167861			15736	protein-coding gene	gene with protein product	"""downregulated in multiple cancer 1"""	605752	"""chromosome 17 open reading frame 28"""	C17orf28		11281419, 21337012	Standard	NM_030630		Approved	DMC1, HID-1	uc002jmj.4	Q8IV36	OTTHUMG00000166490	ENST00000425042.2:c.1485C>T	17.37:g.72952038G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q8N5L6|Q8TE83|Q9NT34	Silent	SNP	pfam_Dymeclin	p.L495	ENST00000425042.2	37	c.1485	CCDS32726.1	17																																																																																			HID1	-	pfam_Dymeclin		0.627	HID1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HID1	HGNC	protein_coding	OTTHUMT00000390011.2	G	NM_030630		72952038	-1	no_errors	ENST00000425042	ensembl	human	known	70_37	silent	SNP	1.000	A
HIF1A	3091	genome.wustl.edu	37	14	62207863	62207863	+	Missense_Mutation	SNP	C	C	G			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr14:62207863C>G	ENST00000337138.4	+	12	2315	c.2050C>G	c.(2050-2052)Cat>Gat	p.H684D	HIF1A_ENST00000539097.1_Missense_Mutation_p.H708D|HIF1A_ENST00000323441.6_Missense_Mutation_p.H684D|HIF1A-AS2_ENST00000554254.1_lincRNA|HIF1A_ENST00000557538.1_Missense_Mutation_p.H625D|RP11-618G20.1_ENST00000555937.1_RNA|HIF1A_ENST00000394997.1_Missense_Mutation_p.H685D	NM_001530.3	NP_001521.1	Q16665	HIF1A_HUMAN	hypoxia inducible factor 1, alpha subunit (basic helix-loop-helix transcription factor)	684	ID.				angiogenesis (GO:0001525)|axon transport of mitochondrion (GO:0019896)|B-1 B cell homeostasis (GO:0001922)|cardiac ventricle morphogenesis (GO:0003208)|cartilage development (GO:0051216)|cellular iron ion homeostasis (GO:0006879)|cellular response to hypoxia (GO:0071456)|cellular response to interleukin-1 (GO:0071347)|cerebral cortex development (GO:0021987)|collagen metabolic process (GO:0032963)|connective tissue replacement involved in inflammatory response wound healing (GO:0002248)|digestive tract morphogenesis (GO:0048546)|dopaminergic neuron differentiation (GO:0071542)|elastin metabolic process (GO:0051541)|embryonic hemopoiesis (GO:0035162)|embryonic placenta development (GO:0001892)|epithelial cell differentiation involved in mammary gland alveolus development (GO:0061030)|epithelial to mesenchymal transition (GO:0001837)|glucose homeostasis (GO:0042593)|heart looping (GO:0001947)|hemoglobin biosynthetic process (GO:0042541)|intestinal epithelial cell maturation (GO:0060574)|lactate metabolic process (GO:0006089)|lactation (GO:0007595)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|muscle cell cellular homeostasis (GO:0046716)|negative regulation of bone mineralization (GO:0030502)|negative regulation of growth (GO:0045926)|negative regulation of mesenchymal cell apoptotic process (GO:2001054)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway (GO:1903377)|negative regulation of thymocyte apoptotic process (GO:0070244)|negative regulation of TOR signaling (GO:0032007)|neural crest cell migration (GO:0001755)|neural fold elevation formation (GO:0021502)|Notch signaling pathway (GO:0007219)|outflow tract morphogenesis (GO:0003151)|oxygen homeostasis (GO:0032364)|positive regulation of angiogenesis (GO:0045766)|positive regulation of chemokine production (GO:0032722)|positive regulation of chemokine-mediated signaling pathway (GO:0070101)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of glycolytic process (GO:0045821)|positive regulation of hormone biosynthetic process (GO:0046886)|positive regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0035774)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of receptor biosynthetic process (GO:0010870)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061419)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of gene expression (GO:0010468)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0043619)|regulation of transcription, DNA-templated (GO:0006355)|regulation of transforming growth factor beta2 production (GO:0032909)|response to hypoxia (GO:0001666)|response to muscle activity (GO:0014850)|retina vasculature development in camera-type eye (GO:0061298)|signal transduction (GO:0007165)|vascular endothelial growth factor production (GO:0010573)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|motile cilium (GO:0031514)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|Hsp90 protein binding (GO:0051879)|nuclear hormone receptor binding (GO:0035257)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|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 distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|transcription factor binding (GO:0008134)|transcription factor binding transcription factor activity (GO:0000989)|ubiquitin protein ligase binding (GO:0031625)			breast(2)|endometrium(8)|kidney(6)|large_intestine(3)|lung(4)	23				OV - Ovarian serous cystadenocarcinoma(108;1.62e-09)|BRCA - Breast invasive adenocarcinoma(234;0.189)	Carvedilol(DB01136)	AGAAAAATCTCATCCAAGAAG	0.358																																																	0													96.0	89.0	91.0					14																	62207863		2203	4300	6503	SO:0001583	missense	3091			U22431	CCDS9753.1, CCDS9754.1, CCDS58324.1	14q23.2	2013-05-21	2008-12-02		ENSG00000100644	ENSG00000100644		"""Basic helix-loop-helix proteins"""	4910	protein-coding gene	gene with protein product		603348				8786149, 9079689	Standard	NM_001530		Approved	MOP1, HIF-1alpha, PASD8, HIF1, bHLHe78	uc001xfq.2	Q16665	OTTHUMG00000140344	ENST00000337138.4:c.2050C>G	14.37:g.62207863C>G	ENSP00000338018:p.His684Asp	Somatic		WXS	Illumina HiSeq	Phase_IV	C0LZJ3|Q53XP6|Q96PT9|Q9UPB1	Missense_Mutation	SNP	pfam_PAS_fold_3,pfam_HIF-1_TAD_C,pfam_HIF_alpha_subunit,pfam_PAS_fold,superfamily_HLH_dom,smart_HLH_dom,smart_PAS,smart_PAC,pfscan_PAS,pfscan_HLH_dom,prints_HIF-1_alpha,tigrfam_PAS	p.H708D	ENST00000337138.4	37	c.2122	CCDS9753.1	14	.	.	.	.	.	.	.	.	.	.	C	12.18	1.860421	0.32884	.	.	ENSG00000100644	ENST00000539494;ENST00000394988;ENST00000337138;ENST00000394997;ENST00000323441;ENST00000557538;ENST00000539097	T;T;T;T;T	0.52983	0.76;0.76;0.64;0.76;0.75	5.72	5.72	0.89469	.	2.545180	0.00829	N	0.001657	T	0.42539	0.1207	L	0.40543	1.245	0.29909	N	0.823728	B;B;B	0.32160	0.239;0.358;0.358	B;B;B	0.26517	0.07;0.07;0.07	T	0.30149	-0.9988	10	0.31617	T	0.26	.	9.2071	0.37296	0.1484:0.7725:0.0:0.0791	.	685;684;684	A8MYV6;D0VY79;Q16665	.;.;HIF1A_HUMAN	D	435;625;684;685;684;625;708	ENSP00000338018:H684D;ENSP00000378446:H685D;ENSP00000323326:H684D;ENSP00000451696:H625D;ENSP00000437955:H708D	ENSP00000323326:H684D	H	+	1	0	HIF1A	61277616	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	1.562000	0.36353	2.857000	0.98124	0.650000	0.86243	CAT	HIF1A	-	NULL		0.358	HIF1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	HIF1A	HGNC	protein_coding	OTTHUMT00000276977.2	C	NM_001530		62207863	+1	no_errors	ENST00000539097	ensembl	human	known	70_37	missense	SNP	1.000	G
HIP1R	9026	genome.wustl.edu	37	12	123335842	123335842	+	Nonsense_Mutation	SNP	C	C	G			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr12:123335842C>G	ENST00000253083.4	+	7	700	c.575C>G	c.(574-576)tCa>tGa	p.S192*		NM_003959.1	NP_003950.1	O75146	HIP1R_HUMAN	huntingtin interacting protein 1 related	192					receptor-mediated endocytosis (GO:0006898)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|intracellular membrane-bounded organelle (GO:0043231)	phosphatidylinositol binding (GO:0035091)			breast(1)|endometrium(5)|kidney(6)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	26	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;4.6e-05)|Epithelial(86;0.000119)|BRCA - Breast invasive adenocarcinoma(302;0.2)		CTTTCTGAATCAGGTGAGCCG	0.478																																																	0													142.0	147.0	145.0					12																	123335842		2203	4300	6503	SO:0001587	stop_gained	9026			AB013384	CCDS31922.1	12q24	2007-12-07			ENSG00000130787	ENSG00000130787			18415	protein-coding gene	gene with protein product		605613				16415883	Standard	NM_003959		Approved	KIAA0655, HIP3, HIP12, FLJ14000, ILWEQ	uc001udj.1	O75146	OTTHUMG00000168765	ENST00000253083.4:c.575C>G	12.37:g.123335842C>G	ENSP00000253083:p.Ser192*	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NHQ6|Q6NXG8|Q9UED9	Nonsense_Mutation	SNP	pfam_ANTH,pfam_ILWEQ,pfam_Epsin_dom_N,superfamily_ENTH_VHS,smart_Epsin-like_N,smart_ILWEQ,pfscan_Epsin-like_N,pfscan_ILWEQ	p.S192*	ENST00000253083.4	37	c.575	CCDS31922.1	12	.	.	.	.	.	.	.	.	.	.	C	38	7.031399	0.98013	.	.	ENSG00000130787	ENST00000253083	.	.	.	4.63	4.63	0.57726	.	0.218694	0.42420	D	0.000707	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.05525	T	0.97	-1.8117	17.4518	0.87594	0.0:1.0:0.0:0.0	.	.	.	.	X	192	.	ENSP00000253083:S192X	S	+	2	0	HIP1R	121901795	1.000000	0.71417	0.962000	0.40283	0.964000	0.63967	7.773000	0.85462	2.287000	0.76781	0.561000	0.74099	TCA	HIP1R	-	pfam_ANTH		0.478	HIP1R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIP1R	HGNC	protein_coding	OTTHUMT00000400935.1	C	NM_003959		123335842	+1	no_errors	ENST00000253083	ensembl	human	known	70_37	nonsense	SNP	1.000	G
HIST1H2AE	3012	genome.wustl.edu	37	6	26217440	26217440	+	Missense_Mutation	SNP	A	A	G			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr6:26217440A>G	ENST00000303910.2	+	1	276	c.238A>G	c.(238-240)Atc>Gtc	p.I80V	HIST1H2BG_ENST00000244601.3_5'Flank	NM_021052.2	NP_066390.1	P04908	H2A1B_HUMAN	histone cluster 1, H2ae	80						extracellular vesicular exosome (GO:0070062)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(3)|ovary(1)|skin(2)	10		all_hematologic(11;0.196)				GACCCGCATCATCCCGCGCCA	0.607																																																	0													71.0	70.0	70.0					6																	26217440		2203	4300	6503	SO:0001583	missense	3012			M60752	CCDS4595.1	6p22.1	2011-01-27	2006-10-11	2003-02-21	ENSG00000168274	ENSG00000277075		"""Histones / Replication-dependent"""	4724	protein-coding gene	gene with protein product		602786	"""H2A histone family, member A"", ""histone 1, H2ae"""	H2AFA		9119399, 1916825, 12408966	Standard	NM_021052		Approved	H2A/a, H2A.1	uc003nha.1	P04908	OTTHUMG00000014440	ENST00000303910.2:c.238A>G	6.37:g.26217440A>G	ENSP00000303373:p.Ile80Val	Somatic		WXS	Illumina HiSeq	Phase_IV	P28001|Q76P63	Missense_Mutation	SNP	pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2A,prints_Histone_H2A	p.I80V	ENST00000303910.2	37	c.238	CCDS4595.1	6	.	.	.	.	.	.	.	.	.	.	.	16.49	3.138668	0.56936	.	.	ENSG00000168274	ENST00000303910	T	0.66815	-0.23	4.07	4.07	0.47477	.	0.000000	0.34555	U	0.003879	T	0.55321	0.1913	L	0.35644	1.08	0.39287	D	0.964679	.	.	.	.	.	.	T	0.62048	-0.6936	8	0.52906	T	0.07	.	12.6507	0.56759	1.0:0.0:0.0:0.0	.	.	.	.	V	80	ENSP00000303373:I80V	ENSP00000303373:I80V	I	+	1	0	HIST1H2AE	26325419	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	7.075000	0.76798	1.834000	0.53371	0.528000	0.53228	ATC	HIST1H2AE	-	pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2A,prints_Histone_H2A		0.607	HIST1H2AE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIST1H2AE	HGNC	protein_coding	OTTHUMT00000040103.1	A	NM_021052		26217440	+1	no_errors	ENST00000303910	ensembl	human	known	70_37	missense	SNP	1.000	G
HIST1H2AK	8330	genome.wustl.edu	37	6	27805844	27805844	+	Nonsense_Mutation	SNP	C	C	A			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr6:27805844C>A	ENST00000330180.2	-	1	273	c.274G>T	c.(274-276)Gag>Tag	p.E92*	HIST1H2BN_ENST00000606613.1_5'Flank|HIST1H2BN_ENST00000396980.3_5'Flank	NM_003510.2	NP_003501.1	P0C0S8	H2A1_HUMAN	histone cluster 1, H2ak	92						extracellular vesicular exosome (GO:0070062)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)			breast(2)|endometrium(2)|kidney(1)|lung(3)|upper_aerodigestive_tract(2)	10						TTGAGCTCCTCGTCGTTGCGG	0.607																																																	0													127.0	128.0	127.0					6																	27805844		2203	4300	6503	SO:0001587	stop_gained	8330			Z83739	CCDS4632.1	6p22.1	2011-01-27	2006-10-11	2003-02-28	ENSG00000184348	ENSG00000275221		"""Histones / Replication-dependent"""	4726	protein-coding gene	gene with protein product		602788	"""H2A histone family, member D"", ""histone 1, H2ak"""	H2AFD		9439656, 12408966	Standard	NM_003510		Approved	H2A/d	uc003njs.3	P0C0S8	OTTHUMG00000016382	ENST00000330180.2:c.274G>T	6.37:g.27805844C>A	ENSP00000330307:p.Glu92*	Somatic		WXS	Illumina HiSeq	Phase_IV	P02261|Q2M1R2|Q76PA6	Nonsense_Mutation	SNP	pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2A,prints_Histone_H2A	p.E92*	ENST00000330180.2	37	c.274	CCDS4632.1	6	.	.	.	.	.	.	.	.	.	.	.	23.3	4.403547	0.83230	.	.	ENSG00000184348	ENST00000330180	.	.	.	3.62	3.62	0.41486	.	0.000000	0.31381	U	0.007755	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	15.5107	0.75779	0.0:1.0:0.0:0.0	.	.	.	.	X	92	.	ENSP00000330307:E92X	E	-	1	0	HIST1H2AK	27913823	1.000000	0.71417	1.000000	0.80357	0.878000	0.50629	4.800000	0.62524	2.295000	0.77249	0.555000	0.69702	GAG	HIST1H2AK	-	superfamily_Histone-fold,smart_Histone_H2A		0.607	HIST1H2AK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIST1H2AK	HGNC	protein_coding	OTTHUMT00000043814.1	C	NM_003510		27805844	-1	no_errors	ENST00000330180	ensembl	human	known	70_37	nonsense	SNP	1.000	A
HIST3H2BB	128312	genome.wustl.edu	37	1	228646059	228646059	+	Missense_Mutation	SNP	G	G	A			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr1:228646059G>A	ENST00000369160.2	+	1	252	c.229G>A	c.(229-231)Gag>Aag	p.E77K	HIST3H2A_ENST00000366695.2_5'Flank	NM_175055.2	NP_778225.1	Q8N257	H2B3B_HUMAN	histone cluster 3, H2bb	77					chromatin organization (GO:0006325)	nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			skin(1)	1		Prostate(94;0.183)				CATCGCCAGCGAGGCCTCCCG	0.637																																																	0													92.0	85.0	87.0					1																	228646059		2203	4300	6503	SO:0001583	missense	128312			AY131981	CCDS1574.1	1q42.13	2011-01-27	2006-10-11		ENSG00000196890	ENSG00000196890		"""Histones / Replication-dependent"""	20514	protein-coding gene	gene with protein product		615046	"""histone 3, H2bb"""			12408966	Standard	NM_175055		Approved		uc001hsz.3	Q8N257	OTTHUMG00000040045	ENST00000369160.2:c.229G>A	1.37:g.228646059G>A	ENSP00000375736:p.Glu77Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	A4FU05|Q3ZCP6|Q5TA30	Missense_Mutation	SNP	pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2B,prints_Histone_H2B	p.E77K	ENST00000369160.2	37	c.229	CCDS1574.1	1	.	.	.	.	.	.	.	.	.	.	.	35	5.588641	0.96590	.	.	ENSG00000196890	ENST00000369160	T	0.34472	1.36	3.94	3.94	0.45596	Histone-fold (2);Histone core (1);	0.000000	0.46442	D	0.000292	T	0.57359	0.2048	M	0.89534	3.04	0.58432	D	0.999998	P	0.49447	0.924	P	0.52159	0.691	T	0.67377	-0.5686	10	0.54805	T	0.06	.	14.354	0.66724	0.0:0.0:1.0:0.0	.	77	Q8N257	H2B3B_HUMAN	K	77	ENSP00000375736:E77K	ENSP00000375736:E77K	E	+	1	0	HIST3H2BB	226712682	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.185000	0.77714	2.491000	0.84063	0.586000	0.80456	GAG	HIST3H2BB	-	pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2B,prints_Histone_H2B		0.637	HIST3H2BB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIST3H2BB	HGNC	protein_coding	OTTHUMT00000096597.1	G	NM_175055		228646059	+1	no_errors	ENST00000369160	ensembl	human	known	70_37	missense	SNP	1.000	A
HLA-DQB2	3120	genome.wustl.edu	37	6	32729509	32729509	+	Missense_Mutation	SNP	C	C	G			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr6:32729509C>G	ENST00000437316.2	-	2	355	c.292G>C	c.(292-294)Gag>Cag	p.E98Q	HLA-DQB2_ENST00000435145.2_Missense_Mutation_p.E98Q|HLA-DQB2_ENST00000411527.1_Missense_Mutation_p.E98Q			P05538	DQB2_HUMAN	major histocompatibility complex, class II, DQ beta 2	102	Beta-1.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|B cell affinity maturation (GO:0002344)|cytokine-mediated signaling pathway (GO:0019221)|immune response (GO:0006955)|interferon-gamma-mediated signaling pathway (GO:0060333)|positive regulation of alpha-beta T cell activation (GO:0046635)|positive regulation of antigen processing and presentation (GO:0002579)|positive regulation of T-helper 1 type immune response (GO:0002827)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)	clathrin-coated endocytic vesicle membrane (GO:0030669)|early endosome (GO:0005769)|endocytic vesicle membrane (GO:0030666)|ER to Golgi transport vesicle membrane (GO:0012507)|external side of plasma membrane (GO:0009897)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|lysosomal membrane (GO:0005765)|MHC class II protein complex (GO:0042613)|multivesicular body (GO:0005771)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)|transport vesicle membrane (GO:0030658)	MHC class II receptor activity (GO:0032395)|peptide antigen binding (GO:0042605)|toxic substance binding (GO:0015643)			endometrium(1)|kidney(1)|lung(1)|prostate(2)	5						GCGGCCCGCTCCTGCTCCAAG	0.647																																																	0																																										SO:0001583	missense	3120			M83890	CCDS56419.1	6p21.3	2013-01-11			ENSG00000232629	ENSG00000232629		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4945	protein-coding gene	gene with protein product		615161		HLA-DXB		2564844	Standard	NM_001198858		Approved		uc003oby.4	P05538	OTTHUMG00000031125	ENST00000437316.2:c.292G>C	6.37:g.32729509C>G	ENSP00000396330:p.Glu98Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NIA5|Q29826|Q29870|Q29871|Q29872|Q29873|Q5SR06	Missense_Mutation	SNP	pfam_MHC_II_b_N,pfam_Ig_C1-set,pfam_CD80_C2-set,superfamily_MHC_I/II-like_Ag-recog,smart_MHC_II_b_N,smart_Ig_C1-set,pfscan_Ig-like	p.E98Q	ENST00000437316.2	37	c.292		6	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	8.185|8.185	0.794787|0.794787	0.16327|0.16327	.|.	.|.	ENSG00000232629|ENSG00000232629	ENST00000437316;ENST00000435145;ENST00000411527|ENST00000427449	T;T;T|.	0.00349|.	7.99;7.99;7.99|.	3.65|3.65	-2.36|-2.36	0.06663|0.06663	.|.	3.339850|.	0.02409|.	U|.	0.081453|.	T|T	0.08537|0.08537	0.0212|0.0212	L|L	0.31294|0.31294	0.92|0.92	0.09310|0.09310	N|N	1|1	B;P|.	0.34815|.	0.151;0.47|.	B;B|.	0.36335|.	0.158;0.222|.	T|T	0.35301|0.35301	-0.9794|-0.9794	10|5	0.54805|.	T|.	0.06|.	.|.	3.9865|3.9865	0.09517|0.09517	0.1498:0.2869:0.0:0.5634|0.1498:0.2869:0.0:0.5634	.|.	98;98|.	A2ADX3;Q5SR06|.	.;.|.	Q|S	98|96	ENSP00000396330:E98Q;ENSP00000410512:E98Q;ENSP00000390431:E98Q|.	ENSP00000390431:E98Q|.	E|R	-|-	1|3	0|2	HLA-DQB2|HLA-DQB2	32837487|32837487	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.000000|0.000000	0.00434|0.00434	-4.893000|-4.893000	0.00173|0.00173	-0.535000|-0.535000	0.06307|0.06307	-2.180000|-2.180000	0.00316|0.00316	GAG|AGG	HLA-DQB2	-	pfam_MHC_II_b_N,superfamily_MHC_I/II-like_Ag-recog,smart_MHC_II_b_N		0.647	HLA-DQB2-003	KNOWN	basic|appris_principal	protein_coding	HLA-DQB2	HGNC	protein_coding	OTTHUMT00000076216.2	C			32729509	-1	no_errors	ENST00000435145	ensembl	human	known	70_37	missense	SNP	0.000	G
HMCN1	83872	genome.wustl.edu	37	1	186062323	186062324	+	Frame_Shift_Ins	INS	-	-	A			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr1:186062323_186062324insA	ENST00000271588.4	+	65	10174_10175	c.9945_9946insA	c.(9946-9948)aaafs	p.K3316fs	HMCN1_ENST00000367492.2_Frame_Shift_Ins_p.K3316fs	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	3316	Ig-like C2-type 31.				response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						CTGACACGGGGAAATACACATG	0.401																																																	0																																										SO:0001589	frameshift_variant	83872			AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"""Fibulins"", ""Immunoglobulin superfamily / I-set domain containing"""	19194	protein-coding gene	gene with protein product	"""fibulin 6"""	608548	"""age-related macular degeneration 1 (senile macular degeneration)"""	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.9948dupA	1.37:g.186062326_186062326dupA	ENSP00000271588:p.Lys3316fs	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Frame_Shift_Ins	INS	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_G2_nidogen/fibulin_G2F,pfam_EGF-like_Ca-bd,pfam_Thrombospondin_1_rpt,superfamily_Green_fluorescent_prot-like,superfamily_Thrombospondin_1_rpt,superfamily_Growth_fac_rcpt,superfamily_Cadherin-like,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Thrombospondin_1_rpt,smart_G2_nidogen/fibulin_G2F,smart_EGF-like_Ca-bd,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_G2_nidogen/fibulin_G2F,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like	p.Y3316fs	ENST00000271588.4	37	c.9945_9946	CCDS30956.1	1																																																																																			HMCN1	-	pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like		0.401	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HMCN1	HGNC	protein_coding	OTTHUMT00000131848.1	-	NM_031935		186062324	+1	no_errors	ENST00000271588	ensembl	human	known	70_37	frame_shift_ins	INS	0.992:1.000	A
HMGXB4	10042	genome.wustl.edu	37	22	35660965	35660965	+	Missense_Mutation	SNP	T	T	G			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr22:35660965T>G	ENST00000216106.5	+	5	712	c.584T>G	c.(583-585)aTt>aGt	p.I195S	HMGXB4_ENST00000444518.2_Missense_Mutation_p.I86S	NM_001003681.2	NP_001003681.1	Q9UGU5	HMGX4_HUMAN	HMG box domain containing 4	195					endosome to lysosome transport (GO:0008333)|negative regulation of Wnt signaling pathway (GO:0030178)|Wnt signaling pathway (GO:0016055)	NURF complex (GO:0016589)	DNA binding (GO:0003677)			breast(1)|endometrium(1)|large_intestine(6)|liver(1)|lung(4)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						ATGAAACTTATTCTGTCACCA	0.433																																																	0													126.0	135.0	132.0					22																	35660965		2203	4300	6503	SO:0001583	missense	10042			AJ010069	CCDS33641.1	22q13	2011-07-01	2009-01-05	2009-01-05	ENSG00000100281	ENSG00000100281		"""High mobility group / Non-canonical"""	5003	protein-coding gene	gene with protein product		604702	"""high-mobility group protein 2-like 1"""	HMG2L1		10329004, 10591208, 20511232	Standard	NM_001003681		Approved	THC211630	uc003anl.3	Q9UGU5	OTTHUMG00000150439	ENST00000216106.5:c.584T>G	22.37:g.35660965T>G	ENSP00000216106:p.Ile195Ser	Somatic		WXS	Illumina HiSeq	Phase_IV	O75672|O75673|Q9UMT5	Missense_Mutation	SNP	pfam_HMG_superfamily,superfamily_HMG_superfamily,smart_HMG_superfamily,pfscan_HMG_superfamily	p.I195S	ENST00000216106.5	37	c.584	CCDS33641.1	22	.	.	.	.	.	.	.	.	.	.	T	18.74	3.688391	0.68271	.	.	ENSG00000100281	ENST00000420166;ENST00000444518;ENST00000455359;ENST00000216106	T;T;T;T	0.60171	0.21;0.21;0.21;0.21	5.88	5.88	0.94601	.	0.095313	0.64402	D	0.000002	T	0.67031	0.2850	L	0.32530	0.975	0.58432	D	0.999997	D	0.89917	1.0	D	0.87578	0.998	T	0.65697	-0.6105	10	0.37606	T	0.19	-4.4881	16.2948	0.82765	0.0:0.0:0.0:1.0	.	195	Q9UGU5	HMGX4_HUMAN	S	86;86;86;195	ENSP00000401658:I86S;ENSP00000398302:I86S;ENSP00000415500:I86S;ENSP00000216106:I195S	ENSP00000216106:I195S	I	+	2	0	HMGXB4	33990965	1.000000	0.71417	0.988000	0.46212	0.924000	0.55760	6.701000	0.74624	2.253000	0.74438	0.455000	0.32223	ATT	HMGXB4	-	NULL		0.433	HMGXB4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	HMGXB4	HGNC	protein_coding	OTTHUMT00000318104.2	T	NM_005487		35660965	+1	no_errors	ENST00000216106	ensembl	human	known	70_37	missense	SNP	1.000	G
HNRNPM	4670	genome.wustl.edu	37	19	8553925	8553925	+	3'UTR	SNP	G	G	A			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr19:8553925G>A	ENST00000325495.4	+	0	2421				HNRNPM_ENST00000348943.3_3'UTR|HNRNPM_ENST00000602219.1_3'UTR	NM_005968.4	NP_005959.2	P52272	HNRPM_HUMAN	heterogeneous nuclear ribonucleoprotein M						alternative mRNA splicing, via spliceosome (GO:0000380)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|extracellular matrix (GO:0031012)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|paraspeckles (GO:0042382)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein domain specific binding (GO:0019904)|RNA binding (GO:0003723)			endometrium(5)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)	25						TGCAATGTGCGCAATTTTTTT	0.368																																																	0																																										SO:0001624	3_prime_UTR_variant	4670			L03532	CCDS12203.1, CCDS12204.1	19p13.2	2013-06-12		2008-04-18	ENSG00000099783	ENSG00000099783		"""RNA binding motif (RRM) containing"""	5046	protein-coding gene	gene with protein product	"""CEA receptor"""	160994		NAGR1, HNRPM		8441656, 7558047	Standard	NM_005968		Approved	HTGR1, HNRNPM4, HNRPM4, CEAR	uc010dwe.3	P52272	OTTHUMG00000182383	ENST00000325495.4:c.*187G>A	19.37:g.8553925G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q15584|Q8WZ44|Q96H56|Q9BWL9|Q9Y492	RNA	SNP	-	NULL	ENST00000325495.4	37	NULL	CCDS12203.1	19																																																																																			HNRNPM	-	-		0.368	HNRNPM-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	HNRNPM	HGNC	protein_coding	OTTHUMT00000460894.1	G			8553925	+1	no_errors	ENST00000602219	ensembl	human	known	70_37	rna	SNP	0.996	A
HOXB2	3212	genome.wustl.edu	37	17	46620387	46620387	+	3'UTR	SNP	C	C	A			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr17:46620387C>A	ENST00000330070.4	-	0	2281				HOXB-AS1_ENST00000435312.1_RNA|HOXB-AS1_ENST00000508688.1_RNA|HOXB2_ENST00000504772.3_5'UTR|HOXB-AS1_ENST00000504972.3_RNA	NM_002145.3	NP_002136.1	P14652	HXB2_HUMAN	homeobox B2						anterior/posterior pattern specification (GO:0009952)|blood circulation (GO:0008015)|dorsal/ventral pattern formation (GO:0009953)|embryonic skeletal system morphogenesis (GO:0048704)|facial nerve structural organization (GO:0021612)|morphogenesis of an epithelial sheet (GO:0002011)|multicellular organismal development (GO:0007275)|neural nucleus development (GO:0048857)|rhombomere 3 development (GO:0021569)|rhombomere 4 development (GO:0021570)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|prostate(1)|skin(1)	11						CAGTAGACGGCCAAGGAGCGC	0.502																																																	0													26.0	26.0	26.0					17																	46620387		2203	4298	6501	SO:0001624	3_prime_UTR_variant	3212				CCDS11527.1	17q21.32	2012-02-22	2005-12-22		ENSG00000173917	ENSG00000173917		"""Homeoboxes / ANTP class : HOXL subclass"""	5113	protein-coding gene	gene with protein product		142967	"""homeo box B2"""	HOX2, HOX2H		1973146, 1358459	Standard	XM_005257276		Approved		uc002inm.3	P14652	OTTHUMG00000159930	ENST00000330070.4:c.*43G>T	17.37:g.46620387C>A		Somatic		WXS	Illumina HiSeq	Phase_IV	P10913|P17485	RNA	SNP	-	NULL	ENST00000330070.4	37	NULL	CCDS11527.1	17																																																																																			HOXB2	-	-		0.502	HOXB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HOXB2	HGNC	protein_coding	OTTHUMT00000358384.2	C			46620387	-1	no_errors	ENST00000504772	ensembl	human	known	70_37	rna	SNP	0.000	A
HOXB9	3219	genome.wustl.edu	37	17	46703486	46703486	+	Missense_Mutation	SNP	G	G	A			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr17:46703486G>A	ENST00000311177.5	-	1	353	c.146C>T	c.(145-147)tCg>tTg	p.S49L	HOXB9_ENST00000550387.1_Missense_Mutation_p.S49L|HOXB7_ENST00000567101.2_Intron|HOXB-AS4_ENST00000480386.1_RNA	NM_024017.4	NP_076922.1	P17482	HXB9_HUMAN	homeobox B9	49					anterior/posterior pattern specification (GO:0009952)|canonical Wnt signaling pathway (GO:0060070)|cell chemotaxis (GO:0060326)|embryonic skeletal system development (GO:0048706)|mammary gland development (GO:0030879)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			breast(2)|endometrium(1)|large_intestine(1)|liver(1)|lung(6)|prostate(1)	12						GAAGCTGCACGAGGGGAACTC	0.682																																																	0													9.0	11.0	10.0					17																	46703486		2178	4264	6442	SO:0001583	missense	3219				CCDS11534.1	17q21.32	2011-06-20	2005-12-22		ENSG00000170689	ENSG00000170689		"""Homeoboxes / ANTP class : HOXL subclass"""	5120	protein-coding gene	gene with protein product		142964	"""homeo box B9"""	HOX2E, HOX2		1973146, 1358459	Standard	NM_024017		Approved		uc002inx.3	P17482	OTTHUMG00000159907	ENST00000311177.5:c.146C>T	17.37:g.46703486G>A	ENSP00000309439:p.Ser49Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RDB7|Q9H1I1	Missense_Mutation	SNP	pfam_Hox9_activation_N,pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,pirsf_Homeobox_Hox9,pfscan_Homeodomain,prints_Homeobox_metazoa	p.S49L	ENST00000311177.5	37	c.146	CCDS11534.1	17	.	.	.	.	.	.	.	.	.	.	G	34	5.341567	0.95783	.	.	ENSG00000170689	ENST00000311177;ENST00000442657;ENST00000550387	D	0.94537	-3.45	4.66	4.66	0.58398	Hox9, N-terminal activation domain (1);	0.000000	0.85682	D	0.000000	D	0.97732	0.9256	M	0.89840	3.065	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.98766	1.0726	10	0.72032	D	0.01	.	17.8979	0.88895	0.0:0.0:1.0:0.0	.	49	P17482	HXB9_HUMAN	L	49	ENSP00000309439:S49L	ENSP00000309439:S49L	S	-	2	0	HOXB9	44058485	1.000000	0.71417	0.999000	0.59377	0.998000	0.95712	9.694000	0.98686	2.277000	0.76020	0.555000	0.69702	TCG	HOXB9	-	pfam_Hox9_activation_N,pirsf_Homeobox_Hox9		0.682	HOXB9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HOXB9	HGNC	protein_coding	OTTHUMT00000358101.2	G			46703486	-1	no_errors	ENST00000311177	ensembl	human	known	70_37	missense	SNP	1.000	A
HRNR	388697	genome.wustl.edu	37	1	152188861	152188861	+	Silent	SNP	C	C	T	rs201735593		TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr1:152188861C>T	ENST00000368801.2	-	3	5319	c.5244G>A	c.(5242-5244)tcG>tcA	p.S1748S	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	1748					establishment of skin barrier (GO:0061436)|hematopoietic progenitor cell differentiation (GO:0002244)|keratinization (GO:0031424)	cornified envelope (GO:0001533)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			AAGAGTGACCCGAGCGAGACT	0.587																																																	0													1.0	1.0	1.0					1																	152188861		382	899	1281	SO:0001819	synonymous_variant	388697			AB104446	CCDS30859.1	1q21.3	2013-01-10			ENSG00000197915	ENSG00000197915		"""EF-hand domain containing"""	20846	protein-coding gene	gene with protein product	"""filaggrin family member 3"""						Standard	NM_001009931		Approved	S100a18, S100A16, FLG3	uc001ezt.2	Q86YZ3	OTTHUMG00000012243	ENST00000368801.2:c.5244G>A	1.37:g.152188861C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q5DT20|Q5U1F4	Silent	SNP	pfam_S100_Ca-bd_sub,pfscan_EF_HAND_2	p.S1748	ENST00000368801.2	37	c.5244	CCDS30859.1	1																																																																																			HRNR	-	NULL		0.587	HRNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HRNR	HGNC	protein_coding	OTTHUMT00000034016.1	C	XM_373868		152188861	-1	no_errors	ENST00000368801	ensembl	human	known	70_37	silent	SNP	0.000	T
HS6ST2	90161	genome.wustl.edu	37	X	131762895	131762895	+	Missense_Mutation	SNP	G	G	A			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chrX:131762895G>A	ENST00000370836.2	-	4	1589	c.1174C>T	c.(1174-1176)Cgc>Tgc	p.R392C	HS6ST2_ENST00000370833.2_Missense_Mutation_p.R286C|HS6ST2_ENST00000521489.1_Missense_Mutation_p.R432C|HS6ST2_ENST00000406696.3_Missense_Mutation_p.R118C	NM_147175.3	NP_671704.3	Q96MM7	H6ST2_HUMAN	heparan sulfate 6-O-sulfotransferase 2	392					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process, enzymatic modification (GO:0015015)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	heparan sulfate 6-O-sulfotransferase activity (GO:0017095)			central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(2)	9	Acute lymphoblastic leukemia(192;0.000127)					GAGAGCATGCGCACCTGGCGG	0.537																																																	0													85.0	83.0	83.0					X																	131762895		2052	4202	6254	SO:0001583	missense	90161			AB067776	CCDS48169.1, CCDS48170.1	Xq26.2	2008-02-05			ENSG00000171004	ENSG00000171004		"""Sulfotransferases, membrane-bound"""	19133	protein-coding gene	gene with protein product		300545				10644753	Standard	NM_147175		Approved		uc011mvd.1	Q96MM7	OTTHUMG00000022430	ENST00000370836.2:c.1174C>T	X.37:g.131762895G>A	ENSP00000359873:p.Arg392Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	B9WRT4|B9WRT5|E9PDY5|Q2TB13|Q4VC07|Q6PIC4|Q86SM9|Q8N3T4|Q8NBN4|Q96SJ4	Missense_Mutation	SNP	pfam_Sulfotransferase	p.R432C	ENST00000370836.2	37	c.1294	CCDS48169.1	X	.	.	.	.	.	.	.	.	.	.	G	18.20	3.572351	0.65765	.	.	ENSG00000171004	ENST00000370837;ENST00000370836;ENST00000521489;ENST00000406696;ENST00000370833	T;T;T;T;T	0.75704	0.98;0.98;0.98;-0.96;0.98	6.02	5.16	0.70880	.	0.000000	0.85682	D	0.000000	D	0.88115	0.6350	M	0.90542	3.125	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;0.999	D	0.89870	0.4022	9	.	.	.	0.6327	13.4915	0.61397	0.0761:0.0:0.9239:0.0	.	392;432;118	Q96MM7;E9PDY5;B7Z5H6	H6ST2_HUMAN;.;.	C	246;392;432;118;286	ENSP00000359874:R246C;ENSP00000359873:R392C;ENSP00000429473:R432C;ENSP00000384013:R118C;ENSP00000359870:R286C	.	R	-	1	0	HS6ST2	131590576	1.000000	0.71417	0.995000	0.50966	0.987000	0.75469	9.869000	0.99810	1.295000	0.44724	0.600000	0.82982	CGC	HS6ST2	-	pfam_Sulfotransferase		0.537	HS6ST2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	HS6ST2	HGNC	protein_coding	OTTHUMT00000058332.3	G	NM_147174		131762895	-1	no_errors	ENST00000521489	ensembl	human	known	70_37	missense	SNP	1.000	A
HSD17B12	51144	genome.wustl.edu	37	11	43775659	43775659	+	Missense_Mutation	SNP	T	T	G			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr11:43775659T>G	ENST00000278353.4	+	3	390	c.271T>G	c.(271-273)Tcc>Gcc	p.S91A	HSD17B12_ENST00000529261.1_3'UTR|HSD17B12_ENST00000395700.4_Missense_Mutation_p.S91A	NM_016142.2	NP_057226.1	Q53GQ0	DHB12_HUMAN	hydroxysteroid (17-beta) dehydrogenase 12	91					cellular lipid metabolic process (GO:0044255)|estrogen biosynthetic process (GO:0006703)|extracellular matrix organization (GO:0030198)|fatty acid biosynthetic process (GO:0006633)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|positive regulation of cell-substrate adhesion (GO:0010811)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum membrane (GO:0005789)|extracellular matrix (GO:0031012)|integral component of membrane (GO:0016021)	estradiol 17-beta-dehydrogenase activity (GO:0004303)|heparin binding (GO:0008201)			endometrium(2)|large_intestine(4)|lung(4)	10						TGACCAGGTTTCCAGTGAAAT	0.353																																					Ovarian(58;548 1143 13948 16572 34258)												0													130.0	134.0	133.0					11																	43775659		2203	4300	6503	SO:0001583	missense	51144			AF078850	CCDS7905.1	11q11	2011-09-20				ENSG00000149084	1.1.1.62	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 3"""	18646	protein-coding gene	gene with protein product	"""3-ketoacyl-CoA reductase"", ""short chain dehydrogenase/reductase family 12C, member 1"""	609574				12482854, 19027726	Standard	NM_016142		Approved	KAR, SDR12C1	uc001mxq.4	Q53GQ0		ENST00000278353.4:c.271T>G	11.37:g.43775659T>G	ENSP00000278353:p.Ser91Ala	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K9B0|D3DR23|Q96EA9|Q96JU2|Q9Y6G8	Missense_Mutation	SNP	pfam_DH_sc/Rdtase_SDR,prints_Glc/ribitol_DH,prints_DH_sc/Rdtase_SDR	p.S91A	ENST00000278353.4	37	c.271	CCDS7905.1	11	.	.	.	.	.	.	.	.	.	.	T	3.650	-0.071687	0.07228	.	.	ENSG00000149084	ENST00000278353;ENST00000395700	T;D	0.86297	1.02;-2.1	5.46	3.13	0.36017	NAD(P)-binding domain (1);	0.163890	0.53938	N	0.000058	T	0.56108	0.1963	N	0.00315	-1.66	0.30089	N	0.80847	B	0.10296	0.003	B	0.10450	0.005	T	0.56805	-0.7918	10	0.02654	T	1	-8.8051	10.2622	0.43434	0.0:0.0:0.4987:0.5013	.	91	Q53GQ0	DHB12_HUMAN	A	91	ENSP00000278353:S91A;ENSP00000379052:S91A	ENSP00000278353:S91A	S	+	1	0	HSD17B12	43732235	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.930000	0.40124	0.877000	0.35895	0.482000	0.46254	TCC	HSD17B12	-	pfam_DH_sc/Rdtase_SDR		0.353	HSD17B12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HSD17B12	HGNC	protein_coding	OTTHUMT00000389594.1	T			43775659	+1	no_errors	ENST00000278353	ensembl	human	known	70_37	missense	SNP	1.000	G
HSDL2	84263	genome.wustl.edu	37	9	115181148	115181148	+	Missense_Mutation	SNP	A	A	T			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr9:115181148A>T	ENST00000398805.3	+	6	735	c.508A>T	c.(508-510)Att>Ttt	p.I170F	HSDL2_ENST00000398803.1_Missense_Mutation_p.I97F|HSDL2_ENST00000262542.7_Missense_Mutation_p.I50F|HSDL2_ENST00000539114.1_Intron|HSDL2_ENST00000488101.1_3'UTR	NM_032303.4	NP_115679.2	Q6YN16	HSDL2_HUMAN	hydroxysteroid dehydrogenase like 2	170						membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisome (GO:0005777)	oxidoreductase activity (GO:0016491)			NS(1)|breast(2)|cervix(2)|endometrium(1)|large_intestine(2)|lung(2)|prostate(1)|upper_aerodigestive_tract(2)	13						AGCTTATACCATTGCTAAGTA	0.274																																																	0													124.0	108.0	113.0					9																	115181148		1825	4070	5895	SO:0001583	missense	84263			AY093428	CCDS43864.1, CCDS56582.1	9q32	2011-09-14			ENSG00000119471	ENSG00000119471		"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 1"""	18572	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 13C, member 1"""		"""chromosome 9 open reading frame 99"""	C9orf99		12834046, 19027726	Standard	NM_032303		Approved	SDR13C1	uc004bga.2	Q6YN16	OTTHUMG00000020504	ENST00000398805.3:c.508A>T	9.37:g.115181148A>T	ENSP00000381785:p.Ile170Phe	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K1L4|A8K8X1|A8MSV3|Q658M8|Q9BT58	Missense_Mutation	SNP	pfam_SCP2_sterol-bd_dom,pfam_DH_sc/Rdtase_SDR,pfam_PKS_KR,superfamily_SCP2_sterol-bd_dom,prints_Glc/ribitol_DH	p.I170F	ENST00000398805.3	37	c.508	CCDS43864.1	9	.	.	.	.	.	.	.	.	.	.	A	16.58	3.162213	0.57368	.	.	ENSG00000119471	ENST00000398805;ENST00000398803;ENST00000262542	D;D;T	0.89552	-2.25;-2.53;1.81	5.54	4.4	0.53042	Short-chain dehydrogenase/reductase, conserved site (1);NAD(P)-binding domain (1);	0.045262	0.85682	D	0.000000	D	0.93278	0.7858	M	0.84326	2.69	0.80722	D	1	D;P	0.65815	0.995;0.84	P;P	0.61722	0.893;0.45	D	0.93330	0.6700	10	0.87932	D	0	.	11.1009	0.48174	0.9267:0.0:0.0732:0.0	.	97;170	Q6YN16-2;Q6YN16	.;HSDL2_HUMAN	F	170;97;50	ENSP00000381785:I170F;ENSP00000381783:I97F;ENSP00000262542:I50F	ENSP00000262542:I50F	I	+	1	0	HSDL2	114220969	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	8.615000	0.90920	1.044000	0.40200	0.455000	0.32223	ATT	HSDL2	-	pfam_DH_sc/Rdtase_SDR,prints_Glc/ribitol_DH		0.274	HSDL2-002	NOVEL	basic|appris_principal|CCDS	protein_coding	HSDL2	HGNC	protein_coding	OTTHUMT00000053681.1	A	NM_032303		115181148	+1	no_errors	ENST00000398805	ensembl	human	known	70_37	missense	SNP	1.000	T
HSPA13	6782	genome.wustl.edu	37	21	15746110	15746110	+	Missense_Mutation	SNP	C	C	T			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr21:15746110C>T	ENST00000285667.3	-	5	1311	c.1244G>A	c.(1243-1245)cGt>cAt	p.R415H	HSPA13_ENST00000544452.1_Missense_Mutation_p.R207H	NM_006948.4	NP_008879.3	P48723	HSP13_HUMAN	heat shock protein 70kDa family, member 13	415						endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)	ATP binding (GO:0005524)			NS(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|upper_aerodigestive_tract(1)	13						AATGACTTGACGGATCCGAGG	0.478																																																	0													107.0	110.0	109.0					21																	15746110		2203	4300	6503	SO:0001583	missense	6782				CCDS13567.1	21q11.1	2011-09-02	2008-06-17	2008-06-17	ENSG00000155304	ENSG00000155304		"""Heat shock proteins / HSP70"""	11375	protein-coding gene	gene with protein product		601100	"""stress 70 protein chaperone, microsome-associated, 60kD"", ""stress 70 protein chaperone, microsome-associated, 60kDa"""	STCH		8825657	Standard	NM_006948		Approved		uc002yjt.3	P48723	OTTHUMG00000074261	ENST00000285667.3:c.1244G>A	21.37:g.15746110C>T	ENSP00000285667:p.Arg415His	Somatic		WXS	Illumina HiSeq	Phase_IV	B2R616|Q8NE40	Missense_Mutation	SNP	pfam_Hsp_70_fam,pfam_MreB_Mrl,prints_Hsp_70_fam	p.R415H	ENST00000285667.3	37	c.1244	CCDS13567.1	21	.	.	.	.	.	.	.	.	.	.	C	26.8	4.776786	0.90195	.	.	ENSG00000155304	ENST00000285667;ENST00000544452	T;T	0.01068	5.38;5.38	5.65	4.77	0.60923	Heat shock protein 70, conserved site (1);	0.000000	0.85682	D	0.000000	T	0.02380	0.0073	M	0.71581	2.175	0.80722	D	1	B	0.29627	0.252	B	0.26614	0.071	T	0.46569	-0.9182	10	0.87932	D	0	-4.2409	15.0193	0.71617	0.0:0.9316:0.0:0.0684	.	415	P48723	HSP13_HUMAN	H	415;207	ENSP00000285667:R415H;ENSP00000441986:R207H	ENSP00000285667:R415H	R	-	2	0	HSPA13	14667981	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	6.041000	0.70988	1.534000	0.49203	0.655000	0.94253	CGT	HSPA13	-	pfam_Hsp_70_fam,prints_Hsp_70_fam		0.478	HSPA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HSPA13	HGNC	protein_coding	OTTHUMT00000157815.1	C			15746110	-1	no_errors	ENST00000285667	ensembl	human	known	70_37	missense	SNP	1.000	T
HSPA1B	3304	genome.wustl.edu	37	6	31795748	31795748	+	Missense_Mutation	SNP	C	C	G			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr6:31795748C>G	ENST00000375650.3	+	1	237	c.21C>G	c.(19-21)atC>atG	p.I7M	HSPA1B_ENST00000545241.1_Missense_Mutation_p.I7M	NM_005346.4	NP_005337.2	P08107	HSP71_HUMAN	heat shock 70kDa protein 1B	7				I -> V (in Ref. 2; AAA52697 and 10; CAA28381). {ECO:0000305}.	ATP catabolic process (GO:0006200)|cellular heat acclimation (GO:0070370)|cellular response to heat (GO:0034605)|gene expression (GO:0010467)|mRNA catabolic process (GO:0006402)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell death (GO:0060548)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of inclusion body assembly (GO:0090084)|negative regulation of protein ubiquitination (GO:0031397)|positive regulation of erythrocyte differentiation (GO:0045648)|protein refolding (GO:0042026)|response to unfolded protein (GO:0006986)|RNA metabolic process (GO:0016070)	aggresome (GO:0016235)|blood microparticle (GO:0072562)|centriole (GO:0005814)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|inclusion body (GO:0016234)|mitochondrion (GO:0005739)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|ribonucleoprotein complex (GO:0030529)|vesicle (GO:0031982)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase activity, coupled (GO:0042623)|double-stranded RNA binding (GO:0003725)|enzyme binding (GO:0019899)|G-protein coupled receptor binding (GO:0001664)|heat shock protein binding (GO:0031072)|poly(A) RNA binding (GO:0044822)|protein binding involved in protein folding (GO:0044183)|protein N-terminus binding (GO:0047485)|ubiquitin protein ligase binding (GO:0031625)|unfolded protein binding (GO:0051082)|virus receptor activity (GO:0001618)			breast(1)|large_intestine(1)|prostate(1)	3						CCGCGGCGATCGGCATCGACC	0.667																																																	0													41.0	43.0	43.0					6																	31795748		2203	4299	6502	SO:0001583	missense	3304				CCDS34415.1	6p21.3	2011-09-02	2002-08-29		ENSG00000204388	ENSG00000204388		"""Heat shock proteins / HSP70"""	5233	protein-coding gene	gene with protein product		603012	"""heat shock 70kD protein 1B"""			1700760	Standard	NM_005346		Approved	HSP70-2	uc003nxk.2	P08107	OTTHUMG00000031202	ENST00000375650.3:c.21C>G	6.37:g.31795748C>G	ENSP00000364801:p.Ile7Met	Somatic		WXS	Illumina HiSeq	Phase_IV	B4E3B6|P19790|Q5JQI4|Q5SP17|Q9UQL9|Q9UQM0	Missense_Mutation	SNP	pfam_Hsp_70_fam,pfam_MreB_Mrl,prints_Hsp_70_fam	p.I7M	ENST00000375650.3	37	c.21	CCDS34415.1	6	.	.	.	.	.	.	.	.	.	.	C	15.63	2.889238	0.52014	.	.	ENSG00000204388	ENST00000542758;ENST00000375650;ENST00000545429;ENST00000545241;ENST00000418382	T;T	0.05717	3.4;3.4	4.66	2.81	0.32909	.	0.000000	0.40908	D	0.000986	T	0.04679	0.0127	.	.	.	0.26432	N	0.97591	.	.	.	.	.	.	T	0.12451	-1.0547	7	0.87932	D	0	-30.5956	9.9461	0.41609	0.0:0.8149:0.0:0.1851	.	.	.	.	M	74;7;7;7;7	ENSP00000364801:I7M;ENSP00000442789:I7M	ENSP00000364801:I7M	I	+	3	3	HSPA1B	31903727	0.982000	0.34865	1.000000	0.80357	0.970000	0.65996	0.230000	0.17852	1.063000	0.40649	0.467000	0.42956	ATC	HSPA1B	-	pfam_Hsp_70_fam,prints_Hsp_70_fam		0.667	HSPA1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HSPA1B	HGNC	protein_coding	OTTHUMT00000076402.2	C			31795748	+1	no_errors	ENST00000375650	ensembl	human	known	70_37	missense	SNP	1.000	G
HSPG2	3339	genome.wustl.edu	37	1	22167723	22167723	+	Missense_Mutation	SNP	C	C	A			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr1:22167723C>A	ENST00000374695.3	-	71	9463	c.9384G>T	c.(9382-9384)aaG>aaT	p.K3128N		NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	3128	Ig-like C2-type 17.				angiogenesis (GO:0001525)|brain development (GO:0007420)|carbohydrate metabolic process (GO:0005975)|cardiac muscle tissue development (GO:0048738)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|chondrocyte differentiation (GO:0002062)|chondroitin sulfate metabolic process (GO:0030204)|embryonic skeletal system morphogenesis (GO:0048704)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|lipoprotein metabolic process (GO:0042157)|phototransduction, visible light (GO:0007603)|protein localization (GO:0008104)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	basal lamina (GO:0005605)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Palifermin(DB00039)	GGGTGACAGCCTTTCCCACTT	0.647																																																	0													49.0	52.0	51.0					1																	22167723		2203	4300	6503	SO:0001583	missense	3339			M85289	CCDS30625.1	1p36.1-p35	2013-01-29	2007-02-16	2007-02-16	ENSG00000142798	ENSG00000142798		"""Proteoglycans / Extracellular Matrix : Other"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5273	protein-coding gene	gene with protein product	"""perlecan proteoglycan"""	142461	"""Schwartz-Jampel syndrome 1 (chondrodystrophic myotonia)"""	SJS1		1685141, 11941538	Standard	XM_005245863		Approved	perlecan, PRCAN	uc001bfj.3	P98160	OTTHUMG00000002674	ENST00000374695.3:c.9384G>T	1.37:g.22167723C>A	ENSP00000363827:p.Lys3128Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	Q16287|Q5SZI3|Q9H3V5	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Laminin_G,pfam_Laminin_B_type_IV,pfam_EGF_laminin,pfam_LDrepeatLR_classA_rpt,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,superfamily_LDrepeatLR_classA_rpt,smart_SEA,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Laminin_B_subgr,smart_EGF_laminin,smart_EGF-like_Ca-bd,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_LDrepeatLR_classA_rpt,pfscan_SEA,pfscan_Ig-like	p.K3128N	ENST00000374695.3	37	c.9384	CCDS30625.1	1	.	.	.	.	.	.	.	.	.	.	C	12.73	2.026762	0.35797	.	.	ENSG00000142798	ENST00000374695	T	0.41758	0.99	4.74	3.74	0.42951	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.41605	D	0.000844	T	0.47002	0.1422	L	0.38175	1.15	0.09310	N	0.999999	D;D	0.89917	0.973;1.0	D;D	0.91635	0.93;0.999	T	0.24835	-1.0149	10	0.19147	T	0.46	.	8.3215	0.32132	0.0:0.846:0.0:0.154	.	1068;3128	Q59EG0;P98160	.;PGBM_HUMAN	N	3128	ENSP00000363827:K3128N	ENSP00000363827:K3128N	K	-	3	2	HSPG2	22040310	0.487000	0.25988	0.376000	0.26042	0.941000	0.58515	-0.061000	0.11693	2.467000	0.83353	0.561000	0.74099	AAG	HSPG2	-	pfam_Ig_I-set,smart_Ig_V-set_subgr,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like		0.647	HSPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HSPG2	HGNC	protein_coding	OTTHUMT00000007598.1	C	NM_005529		22167723	-1	no_errors	ENST00000374695	ensembl	human	known	70_37	missense	SNP	0.092	A
HSPG2	3339	genome.wustl.edu	37	1	22178154	22178154	+	Missense_Mutation	SNP	G	G	C			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr1:22178154G>C	ENST00000374695.3	-	55	7122	c.7043C>G	c.(7042-7044)tCc>tGc	p.S2348C	HSPG2_ENST00000430507.1_3'UTR	NM_005529.5	NP_005520.4	P98160	PGBM_HUMAN	heparan sulfate proteoglycan 2	2348	Ig-like C2-type 9.				angiogenesis (GO:0001525)|brain development (GO:0007420)|carbohydrate metabolic process (GO:0005975)|cardiac muscle tissue development (GO:0048738)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|chondrocyte differentiation (GO:0002062)|chondroitin sulfate metabolic process (GO:0030204)|embryonic skeletal system morphogenesis (GO:0048704)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|lipoprotein metabolic process (GO:0042157)|phototransduction, visible light (GO:0007603)|protein localization (GO:0008104)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)	basal lamina (GO:0005605)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)			breast(6)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(15)|liver(1)|lung(44)|ovary(10)|pancreas(1)|prostate(10)|skin(9)|upper_aerodigestive_tract(3)|urinary_tract(3)	127		Colorectal(325;3.46e-05)|all_lung(284;7.93e-05)|Lung NSC(340;8.71e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0498)|OV - Ovarian serous cystadenocarcinoma(117;1.14e-26)|Colorectal(126;4.18e-07)|COAD - Colon adenocarcinoma(152;1.82e-05)|GBM - Glioblastoma multiforme(114;3.13e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000756)|STAD - Stomach adenocarcinoma(196;0.00656)|KIRC - Kidney renal clear cell carcinoma(1967;0.00942)|READ - Rectum adenocarcinoma(331;0.0721)|Lung(427;0.223)	Palifermin(DB00039)	TTGCGAGGAGGAGGGCTCGAT	0.647																																																	0													82.0	87.0	85.0					1																	22178154		2203	4300	6503	SO:0001583	missense	3339			M85289	CCDS30625.1	1p36.1-p35	2013-01-29	2007-02-16	2007-02-16	ENSG00000142798	ENSG00000142798		"""Proteoglycans / Extracellular Matrix : Other"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5273	protein-coding gene	gene with protein product	"""perlecan proteoglycan"""	142461	"""Schwartz-Jampel syndrome 1 (chondrodystrophic myotonia)"""	SJS1		1685141, 11941538	Standard	XM_005245863		Approved	perlecan, PRCAN	uc001bfj.3	P98160	OTTHUMG00000002674	ENST00000374695.3:c.7043C>G	1.37:g.22178154G>C	ENSP00000363827:p.Ser2348Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q16287|Q5SZI3|Q9H3V5	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Laminin_G,pfam_Laminin_B_type_IV,pfam_EGF_laminin,pfam_LDrepeatLR_classA_rpt,pfam_EG-like_dom,superfamily_ConA-like_lec_gl_sf,superfamily_LDrepeatLR_classA_rpt,smart_SEA,smart_LDrepeatLR_classA_rpt,smart_EG-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Laminin_B_subgr,smart_EGF_laminin,smart_EGF-like_Ca-bd,smart_Laminin_G,pfscan_EG-like_dom,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_LDrepeatLR_classA_rpt,pfscan_SEA,pfscan_Ig-like	p.S2348C	ENST00000374695.3	37	c.7043	CCDS30625.1	1	.	.	.	.	.	.	.	.	.	.	G	15.29	2.790793	0.50102	.	.	ENSG00000142798	ENST00000374695	T	0.69040	-0.37	5.52	5.52	0.82312	Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.38164	N	0.001786	D	0.88066	0.6337	H	0.96662	3.86	0.42385	D	0.992507	D;D	0.89917	0.999;1.0	D;D	0.91635	0.976;0.999	D	0.91535	0.5245	10	0.59425	D	0.04	.	16.9353	0.86202	0.0:0.0:1.0:0.0	.	288;2348	Q59EG0;P98160	.;PGBM_HUMAN	C	2348	ENSP00000363827:S2348C	ENSP00000363827:S2348C	S	-	2	0	HSPG2	22050741	1.000000	0.71417	0.551000	0.28230	0.017000	0.09413	7.531000	0.81973	2.598000	0.87819	0.462000	0.41574	TCC	HSPG2	-	pfam_Ig_I-set,smart_Ig_sub,pfscan_Ig-like		0.647	HSPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HSPG2	HGNC	protein_coding	OTTHUMT00000007598.1	G	NM_005529		22178154	-1	no_errors	ENST00000374695	ensembl	human	known	70_37	missense	SNP	0.933	C
HUWE1	10075	genome.wustl.edu	37	X	53672359	53672359	+	Missense_Mutation	SNP	A	A	C			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chrX:53672359A>C	ENST00000342160.3	-	6	865	c.408T>G	c.(406-408)aaT>aaG	p.N136K	HUWE1_ENST00000218328.8_Missense_Mutation_p.N136K|HUWE1_ENST00000262854.6_Missense_Mutation_p.N136K			Q7Z6Z7	HUWE1_HUMAN	HECT, UBA and WWE domain containing 1, E3 ubiquitin protein ligase	136					base-excision repair (GO:0006284)|cell differentiation (GO:0030154)|histone ubiquitination (GO:0016574)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)			NS(1)|breast(15)|central_nervous_system(1)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|liver(2)|lung(52)|ovary(11)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	153						CATATAGGAGATTGAGGACTG	0.453																																																	0													92.0	73.0	79.0					X																	53672359		2203	4300	6503	SO:0001583	missense	10075			AB071605	CCDS35301.1	Xp11.22	2014-06-09	2012-02-23		ENSG00000086758	ENSG00000086758			30892	protein-coding gene	gene with protein product		300697	"""HECT, UBA and WWE domain containing 1"""			9205841, 10998601	Standard	NM_031407		Approved	Ib772, KIAA0312, UREB1	uc004dsp.4	Q7Z6Z7	OTTHUMG00000021617	ENST00000342160.3:c.408T>G	X.37:g.53672359A>C	ENSP00000340648:p.Asn136Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	O15029|Q4G2Z2|Q5H961|Q6P4D0|Q8NG67|Q9BUI0|Q9HCJ4|Q9NSL6|Q9P0A9	Missense_Mutation	SNP	pfam_E3_Ub_ligase_DUF913,pfam_HECT,pfam_E3_Ub_ligase_DUF908,pfam_WWE-dom,pfam_UBA/transl_elong_EF1B_N,superfamily_HECT,superfamily_UBA-like,superfamily_ARM-type_fold,smart_UBA/transl_elong_EF1B_N_euk,smart_HECT,pfscan_HECT,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_WWE-dom	p.N136K	ENST00000342160.3	37	c.408	CCDS35301.1	X	.	.	.	.	.	.	.	.	.	.	A	19.28	3.796394	0.70567	.	.	ENSG00000086758	ENST00000342160;ENST00000262854;ENST00000218328;ENST00000432528	T;T;T	0.64991	-0.04;-0.04;-0.13	5.23	-2.86	0.05717	Armadillo-like helical (1);E3 ubiquitin ligase, domain of unknown function DUF908 (1);Armadillo-type fold (1);	.	.	.	.	T	0.74168	0.3681	M	0.72894	2.215	0.45118	D	0.998133	D	0.89917	1.0	D	0.87578	0.998	T	0.74917	-0.3501	9	0.87932	D	0	.	12.9796	0.58555	0.6619:0.0:0.3381:0.0	.	136	Q7Z6Z7	HUWE1_HUMAN	K	136	ENSP00000340648:N136K;ENSP00000262854:N136K;ENSP00000218328:N136K	ENSP00000218328:N136K	N	-	3	2	HUWE1	53689084	1.000000	0.71417	0.980000	0.43619	0.921000	0.55340	0.735000	0.26115	-0.702000	0.05056	-1.026000	0.02426	AAT	HUWE1	-	pfam_E3_Ub_ligase_DUF908,superfamily_ARM-type_fold		0.453	HUWE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HUWE1	HGNC	protein_coding	OTTHUMT00000056766.1	A	XM_497119		53672359	-1	no_errors	ENST00000262854	ensembl	human	known	70_37	missense	SNP	0.938	C
HYDIN	54768	genome.wustl.edu	37	16	70908781	70908781	+	Silent	SNP	C	C	T			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr16:70908781C>T	ENST00000393567.2	-	63	10749	c.10599G>A	c.(10597-10599)ctG>ctA	p.L3533L	AC027281.1_ENST00000411384.1_RNA	NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	3533					cilium assembly (GO:0042384)|cilium movement (GO:0003341)|epithelial cell development (GO:0002064)|trachea development (GO:0060438)|ventricular system development (GO:0021591)	cell projection (GO:0042995)				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				GCCTCCCTTTCAGGGAGAAGA	0.512																																																	0													39.0	37.0	37.0					16																	70908781		1833	4078	5911	SO:0001819	synonymous_variant	54768			AK074472	CCDS10897.1, CCDS56004.1, CCDS56005.1, CCDS59269.1	16q22.2	2014-02-05	2012-01-06		ENSG00000157423	ENSG00000157423		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	19368	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 31"""	610812	"""hydrocephalus inducing"", ""hydrocephalus inducing homolog (mouse)"""			12719380, 23022101	Standard	NM_001198542		Approved	DKFZp434D0513, KIAA1864, PPP1R31, CILD5	uc031qwy.1	Q4G0P3	OTTHUMG00000137584	ENST00000393567.2:c.10599G>A	16.37:g.70908781C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A6NC70|A6NLZ0|B4DQY4|B4DRN4|F5H6V3|Q8N3H8|Q8N3P6|Q8TC08|Q96JG3|Q96SS4|Q9H5U3|Q9H9B8|Q9NTI0|Q9UBE5	Silent	SNP	superfamily_PapD-like	p.L3532	ENST00000393567.2	37	c.10596	CCDS59269.1	16																																																																																			HYDIN	-	NULL		0.512	HYDIN-001	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	HYDIN	HGNC	protein_coding	OTTHUMT00000398624.3	C			70908781	-1	no_errors	ENST00000316490	ensembl	human	known	70_37	silent	SNP	0.999	T
HYDIN	54768	genome.wustl.edu	37	16	71218810	71218810	+	Missense_Mutation	SNP	C	C	G			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr16:71218810C>G	ENST00000393567.2	-	3	369	c.219G>C	c.(217-219)caG>caC	p.Q73H	HYDIN_ENST00000448089.2_Missense_Mutation_p.Q73H|HYDIN_ENST00000541601.1_Missense_Mutation_p.Q90H|HYDIN_ENST00000448691.1_Missense_Mutation_p.Q73H|HYDIN_ENST00000393550.2_Missense_Mutation_p.Q73H|HYDIN_ENST00000288168.10_Missense_Mutation_p.Q90H|HYDIN_ENST00000321489.5_Missense_Mutation_p.Q73H|HYDIN_ENST00000538248.1_Missense_Mutation_p.Q100H	NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	73					cilium assembly (GO:0042384)|cilium movement (GO:0003341)|epithelial cell development (GO:0002064)|trachea development (GO:0060438)|ventricular system development (GO:0021591)	cell projection (GO:0042995)				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				GTTCGATGATCTGTGGTCGGC	0.458																																																	0													171.0	152.0	158.0					16																	71218810		2198	4299	6497	SO:0001583	missense	54768			AK074472	CCDS10897.1, CCDS56004.1, CCDS56005.1, CCDS59269.1	16q22.2	2014-02-05	2012-01-06		ENSG00000157423	ENSG00000157423		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	19368	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 31"""	610812	"""hydrocephalus inducing"", ""hydrocephalus inducing homolog (mouse)"""			12719380, 23022101	Standard	NM_001198542		Approved	DKFZp434D0513, KIAA1864, PPP1R31, CILD5	uc031qwy.1	Q4G0P3	OTTHUMG00000137584	ENST00000393567.2:c.219G>C	16.37:g.71218810C>G	ENSP00000377197:p.Gln73His	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NC70|A6NLZ0|B4DQY4|B4DRN4|F5H6V3|Q8N3H8|Q8N3P6|Q8TC08|Q96JG3|Q96SS4|Q9H5U3|Q9H9B8|Q9NTI0|Q9UBE5	Missense_Mutation	SNP	superfamily_PapD-like	p.Q73H	ENST00000393567.2	37	c.219	CCDS59269.1	16	.	.	.	.	.	.	.	.	.	.	C	14.32	2.499772	0.44455	.	.	ENSG00000157423	ENST00000393567;ENST00000316490;ENST00000448089;ENST00000448691;ENST00000321489;ENST00000538248;ENST00000541601;ENST00000288168;ENST00000393550	T;T;T;T;T;T;T;T	0.15139	5.53;3.69;3.69;3.69;3.68;3.68;3.32;2.45	5.86	4.91	0.64330	.	0.372941	0.15840	U	0.242073	T	0.30978	0.0782	M	0.63843	1.955	0.29012	N	0.886827	B;B;B;B;D	0.59767	0.313;0.313;0.098;0.313;0.986	B;B;B;B;P	0.54312	0.234;0.234;0.11;0.234;0.748	T	0.13629	-1.0502	10	0.59425	D	0.04	.	11.7473	0.51828	0.0:0.8089:0.1238:0.0672	.	100;90;90;73;73	B4DRN4;F5H6V3;F8WD03;Q4G0P3-5;F8WD23	.;.;.;.;.	H	73;73;73;73;73;100;90;90;73	ENSP00000377197:Q73H;ENSP00000398544:Q73H;ENSP00000394826:Q73H;ENSP00000314736:Q73H;ENSP00000444970:Q100H;ENSP00000437341:Q90H;ENSP00000288168:Q90H;ENSP00000377181:Q73H	ENSP00000288168:Q90H	Q	-	3	2	HYDIN	69776311	0.981000	0.34729	1.000000	0.80357	0.947000	0.59692	0.677000	0.25262	1.491000	0.48482	0.655000	0.94253	CAG	HYDIN	-	NULL		0.458	HYDIN-001	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	HYDIN	HGNC	protein_coding	OTTHUMT00000398624.3	C			71218810	-1	no_errors	ENST00000316490	ensembl	human	known	70_37	missense	SNP	1.000	G
ICAM3	3385	genome.wustl.edu	37	19	10446397	10446397	+	Missense_Mutation	SNP	C	C	T			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr19:10446397C>T	ENST00000160262.5	-	3	807	c.599G>A	c.(598-600)gGg>gAg	p.G200E	RAVER1_ENST00000293677.6_5'Flank|ICAM3_ENST00000589261.1_Missense_Mutation_p.G123E	NM_002162.3	NP_002153.2	P32942	ICAM3_HUMAN	intercellular adhesion molecule 3	200					extracellular matrix organization (GO:0030198)|regulation of immune response (GO:0050776)|single organismal cell-cell adhesion (GO:0016337)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	integrin binding (GO:0005178)|receptor binding (GO:0005102)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|upper_aerodigestive_tract(2)	13			OV - Ovarian serous cystadenocarcinoma(20;6.13e-09)|Epithelial(33;9.69e-06)|all cancers(31;2.05e-05)			CAGTCCCAGCCCCTGGGGCTG	0.642																																																	0													31.0	27.0	28.0					19																	10446397		2201	4300	6501	SO:0001583	missense	3385				CCDS12235.1	19p13.3-p13.2	2013-01-11				ENSG00000076662		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5346	protein-coding gene	gene with protein product		146631				1448174	Standard	NM_002162		Approved	CDW50, ICAM-R, CD50	uc002mob.2	P32942		ENST00000160262.5:c.599G>A	19.37:g.10446397C>T	ENSP00000160262:p.Gly200Glu	Somatic		WXS	Illumina HiSeq	Phase_IV	Q6PD68	Missense_Mutation	SNP	pfam_ICAM_N,smart_Ig_sub,pfscan_Ig-like,prints_ICAM_VCAM_N,prints_ICAM	p.G200E	ENST00000160262.5	37	c.599	CCDS12235.1	19	.	.	.	.	.	.	.	.	.	.	C	13.84	2.357055	0.41801	.	.	ENSG00000076662	ENST00000160262	T	0.05382	3.45	4.89	4.89	0.63831	Intercellular adhesion molecule (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.28962	0.0719	M	0.87971	2.92	0.09310	N	0.999994	D;D	0.89917	0.997;1.0	D;D	0.91635	0.984;0.999	T	0.09729	-1.0661	10	0.87932	D	0	-40.1927	13.897	0.63778	0.0:1.0:0.0:0.0	.	123;200	B7Z6W6;P32942	.;ICAM3_HUMAN	E	200	ENSP00000160262:G200E	ENSP00000160262:G200E	G	-	2	0	ICAM3	10307397	0.394000	0.25246	0.080000	0.20451	0.023000	0.10783	3.717000	0.54911	2.427000	0.82271	0.555000	0.69702	GGG	ICAM3	-	prints_ICAM		0.642	ICAM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ICAM3	HGNC	protein_coding	OTTHUMT00000451234.1	C			10446397	-1	no_errors	ENST00000160262	ensembl	human	known	70_37	missense	SNP	0.269	T
IDS	3423	genome.wustl.edu	37	X	148568846	148568846	+	Intron	SNP	T	T	G			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chrX:148568846T>G	ENST00000340855.6	-	8	1216				IDS_ENST00000422081.2_Intron|IDS_ENST00000541269.1_Intron|IDS_ENST00000537071.1_Intron|IDS_ENST00000370441.4_Splice_Site|IDS_ENST00000490775.1_Splice_Site	NM_000202.5|NM_001166550.1	NP_000193.1|NP_001160022.1	P22304	IDS_HUMAN	iduronate 2-sulfatase						carbohydrate metabolic process (GO:0005975)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	lysosomal lumen (GO:0043202)	iduronate-2-sulfatase activity (GO:0004423)|metal ion binding (GO:0046872)			NS(1)|breast(3)|endometrium(5)|large_intestine(2)|lung(8)|prostate(1)	20	Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662)					TGAGGAAACCTTTAAAAAAGA	0.338																																																	0													32.0	33.0	33.0					X																	148568846		2197	4291	6488	SO:0001627	intron_variant	3423			M58342	CCDS14685.1, CCDS14686.1	Xq27.3-q28	2012-10-02	2008-08-01		ENSG00000010404	ENSG00000010404	3.1.6.13		5389	protein-coding gene	gene with protein product	"""Hunter syndrome"""	300823		SIDS			Standard	NM_006123		Approved		uc011mxe.2	P22304	OTTHUMG00000022615	ENST00000340855.6:c.1007-217A>C	X.37:g.148568846T>G		Somatic		WXS	Illumina HiSeq	Phase_IV	D3DWT4|Q14604|Q9BRM3	Splice_Site	SNP	-	e8-2	ENST00000340855.6	37	c.1007-2	CCDS14685.1	X	.	.	.	.	.	.	.	.	.	.	T	3.836	-0.034710	0.07543	.	.	ENSG00000010404	ENST00000370441	.	.	.	3.98	-0.0731	0.13736	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	4.2863	0.10857	0.1507:0.1858:0.0:0.6635	.	.	.	.	.	-1	.	.	.	-	.	.	IDS	148376751	0.001000	0.12720	0.000000	0.03702	0.014000	0.08584	0.566000	0.23593	-0.096000	0.12329	0.480000	0.44947	.	IDS	-	-		0.338	IDS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IDS	HGNC	protein_coding	OTTHUMT00000058677.3	T			148568846	-1	no_errors	ENST00000370441	ensembl	human	known	70_37	splice_site	SNP	0.000	G
IDS	3423	genome.wustl.edu	37	X	148585784	148585784	+	Missense_Mutation	SNP	C	C	T			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chrX:148585784C>T	ENST00000340855.6	-	2	352	c.143G>A	c.(142-144)cGc>cAc	p.R48H	IDS_ENST00000427113.2_Intron|IDS_ENST00000422081.2_Intron|IDS_ENST00000428056.2_Missense_Mutation_p.R48H|IDS_ENST00000541269.1_Intron|IDS_ENST00000370443.4_Missense_Mutation_p.R48H|IDS_ENST00000370441.4_Missense_Mutation_p.R48H|IDS_ENST00000490775.1_5'Flank	NM_000202.5|NM_001166550.1	NP_000193.1|NP_001160022.1	P22304	IDS_HUMAN	iduronate 2-sulfatase	48			R -> P (in MPS2; mild form). {ECO:0000269|PubMed:7581397, ECO:0000269|PubMed:9501270}.		carbohydrate metabolic process (GO:0005975)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	lysosomal lumen (GO:0043202)	iduronate-2-sulfatase activity (GO:0004423)|metal ion binding (GO:0046872)			NS(1)|breast(3)|endometrium(5)|large_intestine(2)|lung(8)|prostate(1)	20	Acute lymphoblastic leukemia(192;6.56e-05)|Colorectal(9;0.0662)					CAGGGAGGGGCGCAGGTCATC	0.552																																																	0			GRCh37	CM950658	IDS	M							80.0	55.0	63.0					X																	148585784		2203	4300	6503	SO:0001583	missense	3423			M58342	CCDS14685.1, CCDS14686.1	Xq27.3-q28	2012-10-02	2008-08-01		ENSG00000010404	ENSG00000010404	3.1.6.13		5389	protein-coding gene	gene with protein product	"""Hunter syndrome"""	300823		SIDS			Standard	NM_006123		Approved		uc011mxe.2	P22304	OTTHUMG00000022615	ENST00000340855.6:c.143G>A	X.37:g.148585784C>T	ENSP00000339801:p.Arg48His	Somatic		WXS	Illumina HiSeq	Phase_IV	D3DWT4|Q14604|Q9BRM3	Missense_Mutation	SNP	pfam_Sulfatase,pfam_Phosphodiest/P_Trfase,superfamily_Alkaline_phosphatase_core	p.R48H	ENST00000340855.6	37	c.143	CCDS14685.1	X	.	.	.	.	.	.	.	.	.	.	C	27.2	4.806000	0.90623	.	.	ENSG00000010404	ENST00000340855;ENST00000370441;ENST00000370443;ENST00000428056;ENST00000521702	D;D;D;D;D	0.99908	-7.82;-7.82;-7.82;-7.82;-4.2	4.49	4.49	0.54785	Alkaline phosphatase-like, alpha/beta/alpha (1);Sulfatase (1);Alkaline-phosphatase-like, core domain (1);	0.000000	0.85682	D	0.000000	D	0.99912	0.9958	M	0.89715	3.055	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.998;1.0;1.0	D	0.95684	0.8734	10	0.87932	D	0	.	15.4351	0.75140	0.0:1.0:0.0:0.0	.	48;48;48	O60597;P22304-2;P22304	.;.;IDS_HUMAN	H	48	ENSP00000339801:R48H;ENSP00000359470:R48H;ENSP00000359472:R48H;ENSP00000390241:R48H;ENSP00000429745:R48H	ENSP00000339801:R48H	R	-	2	0	IDS	148393688	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.186000	0.77722	1.824000	0.53156	0.436000	0.28706	CGC	IDS	-	pfam_Sulfatase,superfamily_Alkaline_phosphatase_core		0.552	IDS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IDS	HGNC	protein_coding	OTTHUMT00000058677.3	C			148585784	-1	no_errors	ENST00000340855	ensembl	human	known	70_37	missense	SNP	1.000	T
IFFO1	25900	genome.wustl.edu	37	12	6649649	6649649	+	Silent	SNP	C	C	T			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr12:6649649C>T	ENST00000396840.2	-	9	1721	c.1680G>A	c.(1678-1680)taG>taA	p.*560*	IFFO1_ENST00000465801.1_Silent_p.*256*|IFFO1_ENST00000336604.4_Silent_p.*563*|IFFO1_ENST00000436152.2_Silent_p.*257*|IFFO1_ENST00000356896.4_Silent_p.*564*|RP5-940J5.9_ENST00000602946.1_RNA			Q0D2I5	IFFO1_HUMAN	intermediate filament family orphan 1	0						intermediate filament (GO:0005882)				central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	20						AGGCAGGTCTCTATCTCATGG	0.657																																																	0													55.0	54.0	54.0					12																	6649649		2203	4300	6503	SO:0001819	synonymous_variant	25900			AF124432	CCDS8550.1, CCDS41741.1, CCDS8550.2, CCDS73425.1	12p13.31	2013-01-16	2008-09-11	2008-09-11	ENSG00000010295	ENSG00000010295		"""Intermediate filament family orphans"""	24970	protein-coding gene	gene with protein product		610495	"""intermediate filament family orphan"""	IFFO		8771189, 3052284	Standard	NM_001193457		Approved	HOM-TES-103	uc010sfe.2	Q0D2I5	OTTHUMG00000141264	ENST00000396840.2:c.1680G>A	12.37:g.6649649C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q24JT6|Q7L5J9|Q7Z5X4|Q9BQ46	Silent	SNP	NULL	p.*564	ENST00000396840.2	37	c.1692		12																																																																																			IFFO1	-	NULL		0.657	IFFO1-008	KNOWN	basic|appris_candidate	protein_coding	IFFO1	HGNC	protein_coding	OTTHUMT00000280428.1	C	NM_080730		6649649	-1	no_errors	ENST00000356896	ensembl	human	known	70_37	silent	SNP	0.999	T
LMNTD1	160492	genome.wustl.edu	37	12	25679808	25679808	+	Missense_Mutation	SNP	T	T	G			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr12:25679808T>G	ENST00000282881.6	-	4	659	c.510A>C	c.(508-510)gaA>gaC	p.E170D	IFLTD1_ENST00000445693.1_Missense_Mutation_p.E107D|IFLTD1_ENST00000458174.2_Missense_Mutation_p.E191D|IFLTD1_ENST00000413632.2_Missense_Mutation_p.E191D|IFLTD1_ENST00000539744.1_Missense_Mutation_p.E73D	NM_152590.3	NP_689803.2	Q8N9Z9	LMTD1_HUMAN		170	LTD.				cell proliferation (GO:0008283)	cytoplasm (GO:0005737)|intermediate filament (GO:0005882)|nuclear envelope (GO:0005635)	structural molecule activity (GO:0005198)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(6)|lung(7)|ovary(2)|skin(1)|upper_aerodigestive_tract(2)	22	all_lung(3;2.75e-22)|Lung NSC(3;1.77e-21)|all_hematologic(7;0.00656)|Colorectal(261;0.0847)					CAATTGCCATTTCTTTGTCAA	0.378																																																	0													117.0	113.0	114.0					12																	25679808		2203	4300	6503	SO:0001583	missense	160492																														ENST00000282881.6:c.510A>C	12.37:g.25679808T>G	ENSP00000282881:p.Glu170Asp	Somatic		WXS	Illumina HiSeq	Phase_IV	B4DL27|B4DY70|Q8IY38	Missense_Mutation	SNP	pfam_Lamin_tail_dom	p.E191D	ENST00000282881.6	37	c.573	CCDS8704.1	12	.	.	.	.	.	.	.	.	.	.	T	10.78	1.446935	0.25987	.	.	ENSG00000152936	ENST00000282881;ENST00000539744;ENST00000458174;ENST00000445693;ENST00000413632;ENST00000538178;ENST00000540106	D;D;D;D;D;D;D	0.98090	-4.71;-4.71;-4.71;-4.71;-4.71;-4.71;-4.71	5.57	1.99	0.26369	Intermediate filament, C-terminal (1);	.	.	.	.	D	0.96024	0.8705	N	0.20483	0.58	0.20403	N	0.99991	P;P;D;D	0.89917	0.884;0.884;1.0;1.0	P;P;D;D	0.87578	0.586;0.509;0.996;0.998	D	0.89404	0.3698	9	0.11794	T	0.64	-20.3353	6.9171	0.24365	0.0:0.2672:0.0:0.7328	.	107;191;191;170	Q8N9Z9-3;Q8N9Z9-5;Q8N9Z9-4;Q8N9Z9	.;.;.;ILFT1_HUMAN	D	170;73;191;107;191;145;145	ENSP00000282881:E170D;ENSP00000443132:E73D;ENSP00000407353:E191D;ENSP00000407043:E107D;ENSP00000393150:E191D;ENSP00000442871:E145D;ENSP00000445242:E145D	ENSP00000282881:E170D	E	-	3	2	IFLTD1	25571075	0.452000	0.25713	0.239000	0.24122	0.168000	0.22595	0.539000	0.23175	0.106000	0.17784	-0.263000	0.10527	GAA	IFLTD1	-	pfam_Lamin_tail_dom		0.378	IFLTD1-008	KNOWN	basic|appris_candidate|CCDS	protein_coding	IFLTD1	HGNC	protein_coding	OTTHUMT00000402279.1	T			25679808	-1	no_errors	ENST00000458174	ensembl	human	known	70_37	missense	SNP	0.257	G
IFNAR2	3455	genome.wustl.edu	37	21	34635430	34635430	+	Missense_Mutation	SNP	G	G	C			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr21:34635430G>C	ENST00000342136.4	+	9	1499	c.1173G>C	c.(1171-1173)ttG>ttC	p.L391F	IFNAR2_ENST00000404220.3_3'UTR|AP000295.9_ENST00000433395.2_Intron|IFNAR2_ENST00000382241.3_Missense_Mutation_p.L391F|IL10RB-AS1_ENST00000411998.1_RNA|IFNAR2_ENST00000342101.3_3'UTR			P48551	INAR2_HUMAN	interferon (alpha, beta and omega) receptor 2	391					cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cytokine-mediated signaling pathway (GO:0019221)|JAK-STAT cascade (GO:0007259)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|response to interferon-alpha (GO:0035455)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)|type I interferon binding (GO:0019962)|type I interferon receptor activity (GO:0004905)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	11					"""""""Interferon Alfa-2a(DB00034)|""""Interferon Alfa-2b(DB00105)|Interferon alfa-n1(DB00011)|Interferon alfa-n3(DB00018)|Interferon alfacon-1(DB00069)|Interferon beta-1a(DB00060)|Interferon beta-1b(DB00068)|Peginterferon alfa-2a(DB00008)|Peginterferon alfa-2b(DB00022)"""	TGGAACTCTTGAGTGGGCCCT	0.577																																																	0													67.0	72.0	71.0					21																	34635430		2203	4300	6503	SO:0001583	missense	3455				CCDS13621.1, CCDS13622.1, CCDS74782.1	21q22.1	2010-08-17			ENSG00000159110	ENSG00000159110		"""Interferons"""	5433	protein-coding gene	gene with protein product		602376		IFNABR		8181059	Standard	NM_207585		Approved		uc002yrd.3	P48551	OTTHUMG00000065127	ENST00000342136.4:c.1173G>C	21.37:g.34635430G>C	ENSP00000343957:p.Leu391Phe	Somatic		WXS	Illumina HiSeq	Phase_IV	A8KAJ4|D3DSE8|D3DSE9|Q15467|Q6FHD7	Missense_Mutation	SNP	pfam_Interferon_alpha/beta_rcpt_bsu,superfamily_Fibronectin_type3	p.L391F	ENST00000342136.4	37	c.1173	CCDS13621.1	21	.	.	.	.	.	.	.	.	.	.	G	11.29	1.594839	0.28445	.	.	ENSG00000159110	ENST00000382241;ENST00000342136	T;T	0.22743	1.94;1.94	4.12	-5.24	0.02789	.	5.888880	0.00166	N	0.000001	T	0.12987	0.0315	N	0.22421	0.69	0.09310	N	1	B	0.32010	0.351	B	0.29785	0.107	T	0.17992	-1.0351	10	0.42905	T	0.14	.	6.2248	0.20701	0.2291:0.3028:0.4681:0.0	.	391	P48551	INAR2_HUMAN	F	391	ENSP00000371676:L391F;ENSP00000343957:L391F	ENSP00000343957:L391F	L	+	3	2	IFNAR2	33557300	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-0.513000	0.06305	-0.958000	0.03622	0.563000	0.77884	TTG	IFNAR2	-	NULL		0.577	IFNAR2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	IFNAR2	HGNC	protein_coding	OTTHUMT00000139825.1	G			34635430	+1	no_errors	ENST00000342136	ensembl	human	known	70_37	missense	SNP	0.000	C
IFNAR2	3455	genome.wustl.edu	37	21	34635553	34635553	+	Missense_Mutation	SNP	G	G	C			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr21:34635553G>C	ENST00000342136.4	+	9	1622	c.1296G>C	c.(1294-1296)ttG>ttC	p.L432F	IFNAR2_ENST00000404220.3_3'UTR|AP000295.9_ENST00000433395.2_Intron|IFNAR2_ENST00000382241.3_Missense_Mutation_p.L432F|IL10RB-AS1_ENST00000411998.1_RNA|IFNAR2_ENST00000342101.3_3'UTR			P48551	INAR2_HUMAN	interferon (alpha, beta and omega) receptor 2	432					cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cytokine-mediated signaling pathway (GO:0019221)|JAK-STAT cascade (GO:0007259)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|response to interferon-alpha (GO:0035455)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)|type I interferon binding (GO:0019962)|type I interferon receptor activity (GO:0004905)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	11					"""""""Interferon Alfa-2a(DB00034)|""""Interferon Alfa-2b(DB00105)|Interferon alfa-n1(DB00011)|Interferon alfa-n3(DB00018)|Interferon alfacon-1(DB00069)|Interferon beta-1a(DB00060)|Interferon beta-1b(DB00068)|Peginterferon alfa-2a(DB00008)|Peginterferon alfa-2b(DB00022)"""	CTGTGTTTTTGAGAGTTCTTG	0.502																																																	0													228.0	232.0	230.0					21																	34635553		2203	4300	6503	SO:0001583	missense	3455				CCDS13621.1, CCDS13622.1, CCDS74782.1	21q22.1	2010-08-17			ENSG00000159110	ENSG00000159110		"""Interferons"""	5433	protein-coding gene	gene with protein product		602376		IFNABR		8181059	Standard	NM_207585		Approved		uc002yrd.3	P48551	OTTHUMG00000065127	ENST00000342136.4:c.1296G>C	21.37:g.34635553G>C	ENSP00000343957:p.Leu432Phe	Somatic		WXS	Illumina HiSeq	Phase_IV	A8KAJ4|D3DSE8|D3DSE9|Q15467|Q6FHD7	Missense_Mutation	SNP	pfam_Interferon_alpha/beta_rcpt_bsu,superfamily_Fibronectin_type3	p.L432F	ENST00000342136.4	37	c.1296	CCDS13621.1	21	.	.	.	.	.	.	.	.	.	.	G	11.17	1.560556	0.27827	.	.	ENSG00000159110	ENST00000382241;ENST00000342136	T;T	0.34072	1.38;1.38	4.75	2.87	0.33458	.	6.823810	0.00520	N	0.000191	T	0.30510	0.0767	L	0.29908	0.895	0.21020	N	0.999803	P	0.46512	0.879	B	0.40329	0.326	T	0.23404	-1.0189	10	0.62326	D	0.03	.	6.1597	0.20358	0.1018:0.1908:0.7074:0.0	.	432	P48551	INAR2_HUMAN	F	432	ENSP00000371676:L432F;ENSP00000343957:L432F	ENSP00000343957:L432F	L	+	3	2	IFNAR2	33557423	0.996000	0.38824	0.287000	0.24848	0.020000	0.10135	1.356000	0.34079	0.671000	0.31185	0.655000	0.94253	TTG	IFNAR2	-	NULL		0.502	IFNAR2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	IFNAR2	HGNC	protein_coding	OTTHUMT00000139825.1	G			34635553	+1	no_errors	ENST00000342136	ensembl	human	known	70_37	missense	SNP	0.370	C
IGF2BP1	10642	genome.wustl.edu	37	17	47123299	47123299	+	Silent	SNP	T	T	G			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr17:47123299T>G	ENST00000290341.3	+	13	1777	c.1443T>G	c.(1441-1443)ggT>ggG	p.G481G	IGF2BP1_ENST00000431824.2_Silent_p.G342G	NM_006546.3	NP_006537.3	Q9NZI8	IF2B1_HUMAN	insulin-like growth factor 2 mRNA binding protein 1	481	Necessary for interaction with ELAVL4 and binding to TAU mRNA. {ECO:0000250}.				CRD-mediated mRNA stabilization (GO:0070934)|gene expression (GO:0010467)|mRNA transport (GO:0051028)|negative regulation of translation (GO:0017148)|regulation of cytokine biosynthetic process (GO:0042035)|regulation of mRNA stability involved in response to stress (GO:0010610)	CRD-mediated mRNA stability complex (GO:0070937)|cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|cytosol (GO:0005829)|dendrite (GO:0030425)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	mRNA 3'-UTR binding (GO:0003730)|mRNA 5'-UTR binding (GO:0048027)|mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|translation regulator activity (GO:0045182)			breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						ACTTCTTTGGTCCCAAGGAGG	0.498																																					Esophageal Squamous(198;1041 2123 8248 37119 38268)												0													63.0	57.0	59.0					17																	47123299		2203	4300	6503	SO:0001819	synonymous_variant	10642			AF198254	CCDS11543.1, CCDS54138.1	17q21.32	2013-02-12			ENSG00000159217	ENSG00000159217		"""RNA binding motif (RRM) containing"""	28866	protein-coding gene	gene with protein product	"""IGF II mRNA binding protein 1"""	608288				9891060, 11992722	Standard	NM_001160423		Approved	IMP-1	uc002iom.3	Q9NZI8	OTTHUMG00000161173	ENST00000290341.3:c.1443T>G	17.37:g.47123299T>G		Somatic		WXS	Illumina HiSeq	Phase_IV	C9JT33	Silent	SNP	pfam_KH_dom_type_1,pfam_RRM_dom,smart_RRM_dom,smart_KH_dom,pfscan_KH_dom_type_1,pfscan_RRM_dom	p.G481	ENST00000290341.3	37	c.1443	CCDS11543.1	17																																																																																			IGF2BP1	-	NULL		0.498	IGF2BP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IGF2BP1	HGNC	protein_coding	OTTHUMT00000364046.1	T	NM_006546		47123299	+1	no_errors	ENST00000290341	ensembl	human	known	70_37	silent	SNP	0.922	G
IGF2BP2	10644	genome.wustl.edu	37	3	185407163	185407163	+	Silent	SNP	G	G	A			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr3:185407163G>A	ENST00000382199.2	-	6	752	c.657C>T	c.(655-657)atC>atT	p.I219I	IGF2BP2_ENST00000457616.2_Silent_p.I225I|IGF2BP2_ENST00000421047.2_Silent_p.I162I|IGF2BP2_ENST00000346192.3_Silent_p.I219I|IGF2BP2_ENST00000494906.1_5'Flank	NM_006548.4	NP_006539.3	Q9Y6M1	IF2B2_HUMAN	insulin-like growth factor 2 mRNA binding protein 2	219	KH 1. {ECO:0000255|PROSITE- ProRule:PRU00117}.				anatomical structure morphogenesis (GO:0009653)|gene expression (GO:0010467)|mRNA transport (GO:0051028)|negative regulation of translation (GO:0017148)|regulation of cytokine biosynthetic process (GO:0042035)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|nucleus (GO:0005634)	mRNA 3'-UTR binding (GO:0003730)|mRNA 5'-UTR binding (GO:0048027)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|translation regulator activity (GO:0045182)			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(3)	20	all_cancers(143;5.84e-11)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(80;7.41e-21)			TCTGCTTAGTGATGTTCTTTA	0.572																																																	0													91.0	87.0	88.0					3																	185407163		2203	4300	6503	SO:0001819	synonymous_variant	10644			BC021290	CCDS3273.2, CCDS33903.1	3q27.2	2013-02-12			ENSG00000073792	ENSG00000073792		"""RNA binding motif (RRM) containing"""	28867	protein-coding gene	gene with protein product	"""IGF II mRNA binding protein 2"""	608289				10190901, 9891060	Standard	NM_001007225		Approved	IMP-2	uc003fpo.3	Q9Y6M1	OTTHUMG00000074025	ENST00000382199.2:c.657C>T	3.37:g.185407163G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	A0A4Z0|B3FTN2|B3FTN3|B3FTN4	Silent	SNP	pfam_KH_dom_type_1,pfam_RRM_dom,smart_RRM_dom,smart_KH_dom,pfscan_KH_dom_type_1,pfscan_RRM_dom	p.I219	ENST00000382199.2	37	c.657	CCDS3273.2	3																																																																																			IGF2BP2	-	pfam_KH_dom_type_1,smart_KH_dom,pfscan_KH_dom_type_1		0.572	IGF2BP2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	IGF2BP2	HGNC	protein_coding	OTTHUMT00000157087.2	G	NM_006548		185407163	-1	no_errors	ENST00000382199	ensembl	human	known	70_37	silent	SNP	1.000	A
IGF2R	3482	genome.wustl.edu	37	6	160431704	160431705	+	Intron	INS	-	-	T	rs8191741|rs3215571	byFrequency	TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr6:160431704_160431705insT	ENST00000356956.1	+	4	562					NM_000876.2	NP_000867	P11717	MPRI_HUMAN	insulin-like growth factor 2 receptor						insulin-like growth factor receptor signaling pathway (GO:0048009)|liver development (GO:0001889)|organ regeneration (GO:0031100)|positive regulation of apoptotic process (GO:0043065)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|response to retinoic acid (GO:0032526)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)	cell surface (GO:0009986)|clathrin coat (GO:0030118)|endocytic vesicle (GO:0030139)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|late endosome (GO:0005770)|lysosome (GO:0005764)|membrane (GO:0016020)|nuclear envelope lumen (GO:0005641)|perinuclear region of cytoplasm (GO:0048471)|trans-Golgi network transport vesicle (GO:0030140)	G-protein coupled receptor activity (GO:0004930)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|insulin-like growth factor-activated receptor activity (GO:0005010)|mannose binding (GO:0005537)|phosphoprotein binding (GO:0051219)|receptor activity (GO:0004872)|retinoic acid binding (GO:0001972)|transporter activity (GO:0005215)			breast(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(27)|lung(31)|ovary(3)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	95		Breast(66;0.000777)|Ovarian(120;0.0305)		OV - Ovarian serous cystadenocarcinoma(65;2.45e-17)|BRCA - Breast invasive adenocarcinoma(81;1.09e-05)	Mecasermin(DB01277)	TATAATTACTATTTTTTTTTAA	0.347													TTTTTTTTT|TTTTTTTTT|TTTTTTTTTT|insertion	74	0.0147764	0.0386	0.0029	5008	,	,		18894	0.0179		0.003	False		,,,				2504	0.0																0																																										SO:0001627	intron_variant	3482			J03528	CCDS5273.1	6q25.3	2014-09-16			ENSG00000197081	ENSG00000197081		"""CD molecules"""	5467	protein-coding gene	gene with protein product	"""cation-independent mannose-6 phosphate receptor"""	147280					Standard	NM_000876		Approved	CD222, MPRI, MPR1, CIMPR, M6P-R	uc003qta.3	P11717	OTTHUMG00000015945	ENST00000356956.1:c.415-14->T	6.37:g.160431713_160431713dupT		Somatic		WXS	Illumina HiSeq	Phase_IV	Q7Z7G9|Q96PT5	RNA	INS	-	NULL	ENST00000356956.1	37	NULL	CCDS5273.1	6																																																																																			IGF2R	-	-		0.347	IGF2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IGF2R	HGNC	protein_coding	OTTHUMT00000042931.1	-	NM_000876		160431705	+1	no_errors	ENST00000464636	ensembl	human	known	70_37	rna	INS	0.002:0.002	T
IGSF9	57549	genome.wustl.edu	37	1	159897081	159897081	+	3'UTR	DEL	G	G	-			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr1:159897081delG	ENST00000368094.1	-	0	3791				IGSF9_ENST00000361509.3_3'UTR|IGSF9_ENST00000493195.1_5'UTR|TAGLN2_ENST00000478033.1_5'Flank|TAGLN2_ENST00000368097.4_5'Flank|TAGLN2_ENST00000320307.4_5'Flank	NM_001135050.1	NP_001128522.1	Q9P2J2	TUTLA_HUMAN	immunoglobulin superfamily, member 9						dendrite development (GO:0016358)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synapse (GO:0045202)				central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(17)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_hematologic(112;0.0597)	Breast(1374;0.000126)	BRCA - Breast invasive adenocarcinoma(70;0.111)			CTGTCTGGTTGGGGGCCTCCT	0.587																																																	0																																										SO:0001624	3_prime_UTR_variant	57549			AB037776	CCDS1190.1, CCDS44254.1	1q22-q23	2013-02-11			ENSG00000085552	ENSG00000085552		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	18132	protein-coding gene	gene with protein product		609738				11991715	Standard	NM_020789		Approved	KIAA1355, Nrt1, IGSF9A	uc001fur.2	Q9P2J2	OTTHUMG00000022794	ENST00000368094.1:c.*54C>-	1.37:g.159897081delG		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	DEL	-	NULL	ENST00000368094.1	37	NULL	CCDS44254.1	1																																																																																			IGSF9	-	-		0.587	IGSF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IGSF9	HGNC	protein_coding	OTTHUMT00000059115.1	G	NM_020789		159897081	-1	no_errors	ENST00000476102	ensembl	human	known	70_37	rna	DEL	0.024	-
IL21	59067	genome.wustl.edu	37	4	123534062	123534062	+	Missense_Mutation	SNP	A	A	C			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr4:123534062A>C	ENST00000264497.3	-	4	439	c.382T>G	c.(382-384)Tat>Gat	p.Y128D		NM_001207006.2|NM_021803.3	NP_001193935.1|NP_068575.1	Q9HBE4	IL21_HUMAN	interleukin 21	121					cell maturation (GO:0048469)|immune response (GO:0006955)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cell proliferation (GO:0008284)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-17 production (GO:0032740)|positive regulation of natural killer cell cytokine production (GO:0002729)|positive regulation of natural killer cell differentiation (GO:0032825)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of tissue remodeling (GO:0034105)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|signal transduction (GO:0007165)	extracellular space (GO:0005615)	cytokine receptor binding (GO:0005126)|interleukin-2 receptor binding (GO:0005134)			NS(1)|kidney(1)|large_intestine(2)|liver(1)|lung(3)	8						TTTTTCTCATAAGAATCACAT	0.274																																																	0													73.0	78.0	77.0					4																	123534062		2203	4300	6503	SO:0001583	missense	59067			AF254069	CCDS3727.1, CCDS75189.1	4q26-q27	2011-07-15			ENSG00000138684	ENSG00000138684		"""Interleukins and interleukin receptors"""	6005	protein-coding gene	gene with protein product		605384				11081504, 17947662	Standard	NM_001207006		Approved	Za11, IL-21	uc003ies.3	Q9HBE4	OTTHUMG00000133073	ENST00000264497.3:c.382T>G	4.37:g.123534062A>C	ENSP00000264497:p.Tyr128Asp	Somatic		WXS	Illumina HiSeq	Phase_IV	A5J0L4	Missense_Mutation	SNP	pfam_Interleukin_15-like	p.Y128D	ENST00000264497.3	37	c.382	CCDS3727.1	4	.	.	.	.	.	.	.	.	.	.	A	18.15	3.560125	0.65538	.	.	ENSG00000138684	ENST00000264497	.	.	.	4.68	4.68	0.58851	.	0.142736	0.32190	N	0.006442	T	0.75228	0.3821	M	0.68952	2.095	0.45464	D	0.998435	D;D	0.71674	0.997;0.998	D;D	0.73708	0.967;0.981	T	0.78114	-0.2330	9	0.87932	D	0	-14.0988	11.8037	0.52141	1.0:0.0:0.0:0.0	.	121;121	Q9HBE4-2;Q9HBE4	.;IL21_HUMAN	D	128	.	ENSP00000264497:Y128D	Y	-	1	0	IL21	123753512	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	4.528000	0.60580	1.866000	0.54105	0.482000	0.46254	TAT	IL21	-	pfam_Interleukin_15-like		0.274	IL21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IL21	HGNC	protein_coding	OTTHUMT00000256713.1	A	NM_021803		123534062	-1	no_errors	ENST00000264497	ensembl	human	known	70_37	missense	SNP	1.000	C
INPP4A	3631	genome.wustl.edu	37	2	99182207	99182207	+	Missense_Mutation	SNP	C	C	A			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr2:99182207C>A	ENST00000523221.1	+	19	2272	c.2272C>A	c.(2272-2274)Ctg>Atg	p.L758M	INPP4A_ENST00000409851.3_Missense_Mutation_p.L753M|INPP4A_ENST00000409540.3_Missense_Mutation_p.L719M|INPP4A_ENST00000074304.5_Missense_Mutation_p.L758M|INPP4A_ENST00000545415.1_Missense_Mutation_p.L719M|INPP4A_ENST00000409463.1_Missense_Mutation_p.L87M|INPP4A_ENST00000409016.4_Missense_Mutation_p.L719M			Q96PE3	INP4A_HUMAN	inositol polyphosphate-4-phosphatase, type I, 107kDa	758					inositol phosphate metabolic process (GO:0043647)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity (GO:0016316)|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity (GO:0034597)			breast(1)|endometrium(9)|kidney(2)|large_intestine(5)|lung(16)|ovary(2)|prostate(4)|upper_aerodigestive_tract(4)	43						CGCAGACATGCTGCCCGTCAT	0.502																																																	0													76.0	82.0	80.0					2																	99182207		2066	4214	6280	SO:0001583	missense	3631			U26398	CCDS46369.1, CCDS46370.1, CCDS46371.1, CCDS46372.1	2q11.2	2008-05-27	2002-08-29		ENSG00000040933	ENSG00000040933			6074	protein-coding gene	gene with protein product		600916	"""inositol polyphosphate-4-phosphatase, type I, 107kD"""	INPP4		7608176, 9295334	Standard	NM_004027		Approved		uc002syy.3	Q96PE3	OTTHUMG00000153106	ENST00000523221.1:c.2272C>A	2.37:g.99182207C>A	ENSP00000427722:p.Leu758Met	Somatic		WXS	Illumina HiSeq	Phase_IV	O15326|Q13187|Q53TD8|Q8TC02	Missense_Mutation	SNP	superfamily_C2_Ca/lipid-bd_dom_CaLB	p.L758M	ENST00000523221.1	37	c.2272	CCDS46369.1	2	.	.	.	.	.	.	.	.	.	.	C	27.6	4.846002	0.91277	.	.	ENSG00000040933	ENST00000409016;ENST00000409851;ENST00000409463;ENST00000074304;ENST00000545415;ENST00000409540;ENST00000523221	T;T;T;T;T;T;T	0.47177	1.74;2.09;0.85;2.09;1.74;1.71;2.09	5.25	5.25	0.73442	.	0.000000	0.64402	D	0.000001	T	0.61048	0.2316	L	0.42245	1.32	0.80722	D	1	D;D;P;D;D	0.71674	0.993;0.997;0.57;0.998;0.998	P;D;B;D;D	0.68943	0.858;0.94;0.295;0.961;0.961	T	0.56884	-0.7905	10	0.39692	T	0.17	-14.4896	18.0234	0.89261	0.0:1.0:0.0:0.0	.	719;719;87;758;753	Q96PE3-2;Q96PE3-4;B8ZZB2;Q96PE3;Q96PE3-3	.;.;.;INP4A_HUMAN;.	M	719;753;87;758;719;719;758	ENSP00000386704:L719M;ENSP00000386777:L753M;ENSP00000386329:L87M;ENSP00000074304:L758M;ENSP00000442149:L719M;ENSP00000387294:L719M;ENSP00000427722:L758M	ENSP00000074304:L758M	L	+	1	2	INPP4A	98548639	1.000000	0.71417	1.000000	0.80357	0.934000	0.57294	4.638000	0.61353	2.744000	0.94065	0.563000	0.77884	CTG	INPP4A	-	NULL		0.502	INPP4A-009	KNOWN	basic|CCDS	protein_coding	INPP4A	HGNC	protein_coding	OTTHUMT00000376095.1	C	NM_001566		99182207	+1	no_errors	ENST00000074304	ensembl	human	known	70_37	missense	SNP	1.000	A
IL37	27178	genome.wustl.edu	37	2	113670647	113670647	+	Missense_Mutation	SNP	G	G	A			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr2:113670647G>A	ENST00000263326.3	+	1	100	c.58G>A	c.(58-60)Gat>Aat	p.D20N	IL37_ENST00000311328.2_5'Flank|IL37_ENST00000352179.3_Missense_Mutation_p.D20N|IL37_ENST00000349806.3_Missense_Mutation_p.D20N|IL37_ENST00000353225.3_Missense_Mutation_p.D20N	NM_014439.3	NP_055254.2	Q9NZH6	IL37_HUMAN	interleukin 37	20					immune response (GO:0006955)|inflammatory response (GO:0006954)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|nucleus (GO:0005634)	interleukin-1 receptor binding (GO:0005149)			NS(1)|breast(2)|cervix(1)|endometrium(2)|large_intestine(1)|lung(7)|ovary(2)|skin(3)	19						CTGGGAAAAAGATGAACCCCA	0.438																																																	0													88.0	87.0	87.0					2																	113670647		2203	4300	6503	SO:0001583	missense	27178			AF201832	CCDS2103.1, CCDS2104.1, CCDS2105.1, CCDS2106.1, CCDS2107.1	2q12-q14.1	2011-06-06	2011-06-06	2011-06-06	ENSG00000125571	ENSG00000125571		"""Interleukins and interleukin receptors"""	15563	protein-coding gene	gene with protein product	"""interleukin 1, zeta"", ""interleukin-1 homolog 4"", ""interleukin-1-related protein"""	605510	"""interleukin 1 family, member 7 (zeta)"""	IL1F7		10625660, 10512743, 12496389	Standard	NM_014439		Approved	FIL1, FIL1Z, FIL1(ZETA), IL-1H4, IL-1RP1, IL-1F7	uc002tij.3	Q9NZH6	OTTHUMG00000131345	ENST00000263326.3:c.58G>A	2.37:g.113670647G>A	ENSP00000263326:p.Asp20Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	B5BU97|Q56AP9|Q8TD04|Q8TD05|Q9HBF2|Q9HBF3|Q9UHA6	Missense_Mutation	SNP	pfam_Interleukin_1,superfamily_Cytokine_IL1-like,smart_Interleukin_1,prints_Interleukin_1,prints_IL_rcpt_IL1RA	p.D20N	ENST00000263326.3	37	c.58	CCDS2103.1	2	.	.	.	.	.	.	.	.	.	.	g	15.77	2.932352	0.52866	.	.	ENSG00000125571	ENST00000263326;ENST00000352179;ENST00000349806;ENST00000353225	T;T;T;T	0.62788	0.0;0.0;0.0;0.0	2.65	2.65	0.31530	.	.	.	.	.	T	0.70133	0.3189	L	0.54323	1.7	0.25043	N	0.991188	D;D;D;D	0.71674	0.97;0.998;0.998;0.997	P;P;D;P	0.63703	0.801;0.881;0.917;0.763	T	0.57613	-0.7781	9	0.87932	D	0	-4.389	8.9707	0.35905	0.0:0.0:1.0:0.0	.	20;20;20;20	Q9NZH6-5;Q9NZH6-3;Q9NZH6-4;Q9NZH6	.;.;.;IL37_HUMAN	N	20	ENSP00000263326:D20N;ENSP00000263327:D20N;ENSP00000263328:D20N;ENSP00000309208:D20N	ENSP00000263326:D20N	D	+	1	0	IL37	113387118	0.005000	0.15991	0.044000	0.18714	0.057000	0.15508	0.711000	0.25764	1.813000	0.52934	0.558000	0.71614	GAT	IL37	-	NULL		0.438	IL37-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	IL37	HGNC	protein_coding	OTTHUMT00000254126.1	G	NM_014439		113670647	+1	no_errors	ENST00000263326	ensembl	human	known	70_37	missense	SNP	0.059	A
INSC	387755	genome.wustl.edu	37	11	15260507	15260507	+	Missense_Mutation	SNP	C	C	A			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr11:15260507C>A	ENST00000379554.3	+	11	1467	c.1421C>A	c.(1420-1422)tCt>tAt	p.S474Y	INSC_ENST00000379556.3_Missense_Mutation_p.S427Y|INSC_ENST00000424273.1_Missense_Mutation_p.S385Y|INSC_ENST00000528567.1_Missense_Mutation_p.S427Y|INSC_ENST00000447214.2_3'UTR|INSC_ENST00000530161.1_Missense_Mutation_p.S427Y|INSC_ENST00000525218.1_Missense_Mutation_p.S385Y	NM_001031853.3	NP_001027024.3	Q1MX18	INSC_HUMAN	inscuteable homolog (Drosophila)	474					establishment of mitotic spindle orientation (GO:0000132)|lung epithelial cell differentiation (GO:0060487)|nervous system development (GO:0007399)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)				NS(2)|breast(1)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(3)|lung(24)|ovary(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49						AAACCAAGGTCTGGGACTCCT	0.597																																																	0													69.0	69.0	69.0					11																	15260507		2049	4196	6245	SO:0001583	missense	387755			AB231744	CCDS41621.1, CCDS41622.1, CCDS60735.1, CCDS60736.1	11p15.2	2014-02-05			ENSG00000188487	ENSG00000188487			33116	protein-coding gene	gene with protein product	"""inscuteable spindle orientation adaptor protein"""	610668				16458856	Standard	NM_001031853		Approved		uc001mly.4	Q1MX18	OTTHUMG00000165838	ENST00000379554.3:c.1421C>A	11.37:g.15260507C>A	ENSP00000368872:p.Ser474Tyr	Somatic		WXS	Illumina HiSeq	Phase_IV	A0PJX5|Q1MX19|Q3C1V6|Q4AC95|Q4AC96|Q4AC97|Q4AC98	Missense_Mutation	SNP	superfamily_ARM-type_fold,smart_Armadillo	p.S474Y	ENST00000379554.3	37	c.1421	CCDS41621.1	11	.	.	.	.	.	.	.	.	.	.	C	17.67	3.448109	0.63178	.	.	ENSG00000188487	ENST00000379554;ENST00000379556;ENST00000424273;ENST00000528567;ENST00000530161;ENST00000525218	T;T;T;T;T;T	0.50548	0.74;0.74;0.74;0.74;0.74;0.74	5.27	5.27	0.74061	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.43255	0.1239	L	0.29908	0.895	0.80722	D	1	P;B;P;P	0.44006	0.824;0.395;0.627;0.627	B;B;B;B	0.43623	0.425;0.188;0.255;0.255	T	0.27434	-1.0074	10	0.34782	T	0.22	-9.3621	18.8885	0.92389	0.0:1.0:0.0:0.0	.	462;385;427;474	Q1MX18-5;Q1MX18-4;A0PJX5;Q1MX18	.;.;.;INSC_HUMAN	Y	474;427;385;427;427;385	ENSP00000368872:S474Y;ENSP00000368874:S427Y;ENSP00000389161:S385Y;ENSP00000435022:S427Y;ENSP00000436194:S427Y;ENSP00000436113:S385Y	ENSP00000368872:S474Y	S	+	2	0	INSC	15217083	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	6.930000	0.75858	2.475000	0.83589	0.655000	0.94253	TCT	INSC	-	superfamily_ARM-type_fold,smart_Armadillo		0.597	INSC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	INSC	HGNC	protein_coding	OTTHUMT00000386590.1	C	NM_001031853		15260507	+1	no_errors	ENST00000379554	ensembl	human	known	70_37	missense	SNP	1.000	A
INTS8	55656	genome.wustl.edu	37	8	95869137	95869137	+	Missense_Mutation	SNP	C	C	A			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr8:95869137C>A	ENST00000523731.1	+	15	2018	c.1885C>A	c.(1885-1887)Cag>Aag	p.Q629K	INTS8_ENST00000447247.1_Missense_Mutation_p.Q629K|INTS8_ENST00000520845.1_3'UTR	NM_017864.2	NP_060334.2	Q75QN2	INT8_HUMAN	integrator complex subunit 8	629					snRNA processing (GO:0016180)	integrator complex (GO:0032039)				breast(3)|endometrium(3)|kidney(1)|large_intestine(9)|liver(1)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	28	Breast(36;1.05e-06)					TGGGACAGGGCAGGCAGGAGA	0.468																																																	0													115.0	106.0	109.0					8																	95869137		2203	4300	6503	SO:0001583	missense	55656			AK091278	CCDS34925.1	8q22.1	2007-05-03	2006-03-15	2006-03-15	ENSG00000164941	ENSG00000164941			26048	protein-coding gene	gene with protein product		611351	"""chromosome 8 open reading frame 52"""	C8orf52		16239144	Standard	NM_017864		Approved	FLJ20530, INT8, MGC131633	uc003yhb.4	Q75QN2	OTTHUMG00000164695	ENST00000523731.1:c.1885C>A	8.37:g.95869137C>A	ENSP00000430338:p.Gln629Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RN92|Q5RKZ3|Q6P1R5|Q7Z314|Q9NVS6|Q9NWY7	Missense_Mutation	SNP	NULL	p.Q629K	ENST00000523731.1	37	c.1885	CCDS34925.1	8	.	.	.	.	.	.	.	.	.	.	C	13.22	2.172580	0.38315	.	.	ENSG00000164941	ENST00000523731;ENST00000447247	.	.	.	5.51	5.51	0.81932	.	0.459771	0.26489	N	0.024093	T	0.33876	0.0878	N	0.08118	0	0.44492	D	0.997438	B;B	0.18310	0.0;0.027	B;B	0.18561	0.0;0.022	T	0.24154	-1.0168	9	0.05436	T	0.98	-0.5885	14.6869	0.69055	0.0:0.8448:0.1552:0.0	.	629;629	Q75QN2;Q75QN2-2	INT8_HUMAN;.	K	629	.	ENSP00000343274:Q629K	Q	+	1	0	INTS8	95938313	0.733000	0.28132	0.983000	0.44433	0.815000	0.46073	2.349000	0.44054	2.756000	0.94617	0.655000	0.94253	CAG	INTS8	-	NULL		0.468	INTS8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	INTS8	HGNC	protein_coding	OTTHUMT00000379794.1	C	NM_017864		95869137	+1	no_errors	ENST00000523731	ensembl	human	known	70_37	missense	SNP	1.000	A
IPO4	79711	genome.wustl.edu	37	14	24654676	24654676	+	Missense_Mutation	SNP	C	C	T			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr14:24654676C>T	ENST00000354464.6	-	13	1443	c.1267G>A	c.(1267-1269)Gaa>Aaa	p.E423K	RP11-468E2.2_ENST00000561419.1_3'UTR	NM_024658.3	NP_078934.3	Q8TEX9	IPO4_HUMAN	importin 4	423					DNA replication-dependent nucleosome assembly (GO:0006335)|DNA replication-independent nucleosome assembly (GO:0006336)|intracellular protein transport (GO:0006886)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|protein complex (GO:0043234)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(10)|ovary(1)|stomach(2)|urinary_tract(1)	33				GBM - Glioblastoma multiforme(265;0.0087)		TGTAGGTTTTCTGAGAACTGG	0.567																																																	0													84.0	90.0	88.0					14																	24654676		2041	4178	6219	SO:0001583	missense	79711			AF411122	CCDS9616.1	14q11.2	2003-03-10			ENSG00000196497	ENSG00000196497		"""Importins"""	19426	protein-coding gene	gene with protein product						11823430	Standard	NR_051979		Approved	Imp4, FLJ23338	uc001wmv.1	Q8TEX9	OTTHUMG00000028801	ENST00000354464.6:c.1267G>A	14.37:g.24654676C>T	ENSP00000346453:p.Glu423Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RN95|Q2NL96|Q86TZ9|Q8NCG8|Q96SJ3|Q9BTI4|Q9H5L0	Missense_Mutation	SNP	pfam_HEAT,pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N,pfscan_HEAT_type_2,pfscan_Importin-beta_N	p.E423K	ENST00000354464.6	37	c.1267	CCDS9616.1	14	.	.	.	.	.	.	.	.	.	.	C	29.6	5.017285	0.93404	.	.	ENSG00000196497	ENST00000354464;ENST00000399536	T	0.17854	2.25	5.44	4.54	0.55810	Armadillo-like helical (1);Armadillo-type fold (1);	0.052867	0.64402	D	0.000001	T	0.43678	0.1258	M	0.84219	2.685	0.80722	D	1	D	0.71674	0.998	D	0.71414	0.973	T	0.48864	-0.8997	10	0.62326	D	0.03	-23.6197	13.4579	0.61210	0.0:0.8428:0.1572:0.0	.	423	Q8TEX9	IPO4_HUMAN	K	423;99	ENSP00000346453:E423K	ENSP00000346453:E423K	E	-	1	0	IPO4	23724516	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	5.854000	0.69503	1.496000	0.48567	0.655000	0.94253	GAA	IPO4	-	pfam_HEAT,superfamily_ARM-type_fold,pfscan_HEAT_type_2		0.567	IPO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IPO4	HGNC	protein_coding	OTTHUMT00000071931.4	C	NM_024658		24654676	-1	no_errors	ENST00000354464	ensembl	human	known	70_37	missense	SNP	1.000	T
IQCA1	79781	genome.wustl.edu	37	2	237300961	237300961	+	Missense_Mutation	SNP	A	A	G			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr2:237300961A>G	ENST00000409907.3	-	10	1517	c.1243T>C	c.(1243-1245)Ttc>Ctc	p.F415L	IQCA1_ENST00000431676.2_Missense_Mutation_p.F374L|IQCA1_ENST00000465621.1_5'Flank|AC019068.2_ENST00000413353.1_RNA|IQCA1_ENST00000309507.5_Missense_Mutation_p.F411L	NM_024726.4	NP_079002.3	Q86XH1	IQCA1_HUMAN	IQ motif containing with AAA domain 1	415	Lys-rich.						ATP binding (GO:0005524)			cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(12)|ovary(1)	26						TCCTGAGAGAAATTCCAAGAC	0.328																																																	0													86.0	75.0	78.0					2																	237300961		1834	4079	5913	SO:0001583	missense	79781			AK026180	CCDS46549.1, CCDS59441.1, CCDS74677.1	2q37.3	2014-07-18	2008-07-02	2008-07-02	ENSG00000132321	ENSG00000132321		"""ATPases / AAA-type"""	26195	protein-coding gene	gene with protein product	"""dynein regulatory complex subunit 11"""		"""IQ motif containing with AAA domain"""	IQCA		23427265	Standard	NM_024726		Approved	FLJ22527, DRC11	uc002vwb.3	Q86XH1	OTTHUMG00000153058	ENST00000409907.3:c.1243T>C	2.37:g.237300961A>G	ENSP00000387347:p.Phe415Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	B4DFH9|E7EWQ0|Q4G164|Q53R37|Q53RV3|Q96NS7|Q9H680	Missense_Mutation	SNP	pfam_ATPase_AAA_core,pfscan_IQ_motif_EF-hand-BS	p.F415L	ENST00000409907.3	37	c.1243	CCDS46549.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	15.64|15.64	2.893326|2.893326	0.52121|0.52121	.|.	.|.	ENSG00000132321|ENSG00000132321	ENST00000409907;ENST00000457693;ENST00000309507;ENST00000431676;ENST00000412437|ENST00000418802	D;D;D|.	0.93906|.	-3.24;-3.23;-3.31|.	5.63|5.63	4.47|4.47	0.54385|0.54385	.|.	0.000000|0.000000	0.64402|0.64402	D|D	0.000009|0.000009	T|T	0.61324|0.61324	0.2338|0.2338	L|L	0.53729|0.53729	1.69|1.69	0.41272|0.41272	D|D	0.986852|0.986852	B;B;B|.	0.18968|.	0.026;0.032;0.011|.	B;B;B|.	0.21151|.	0.02;0.033;0.013|.	T|T	0.58470|0.58470	-0.7631|-0.7631	10|6	0.02654|.	T|.	1|.	.|.	11.4661|11.4661	0.50239|0.50239	0.8496:0.1504:0.0:0.0|0.8496:0.1504:0.0:0.0	.|.	374;422;415|.	E7EWQ0;E9PH78;Q86XH1|.	.;.;IQCA1_HUMAN|.	L|S	415;422;411;374;411|433	ENSP00000387347:F415L;ENSP00000311951:F411L;ENSP00000407213:F374L|.	ENSP00000254653:F415L|.	F|F	-|-	1|2	0|0	IQCA1|IQCA1	236965700|236965700	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.940000|0.940000	0.58332|0.58332	3.339000|3.339000	0.52135|0.52135	0.956000|0.956000	0.37904|0.37904	0.533000|0.533000	0.62120|0.62120	TTC|TTT	IQCA1	-	NULL		0.328	IQCA1-001	KNOWN	basic|CCDS	protein_coding	IQCA1	HGNC	protein_coding	OTTHUMT00000329266.1	A	NM_024726		237300961	-1	no_errors	ENST00000409907	ensembl	human	known	70_37	missense	SNP	1.000	G
IQCB1	9657	genome.wustl.edu	37	3	121514315	121514315	+	Missense_Mutation	SNP	C	C	G			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr3:121514315C>G	ENST00000310864.6	-	10	1189	c.975G>C	c.(973-975)caG>caC	p.Q325H	IQCB1_ENST00000349820.6_Intron	NM_001023570.2	NP_001018864.2	Q15051	IQCB1_HUMAN	IQ motif containing B1	325	IQ 2. {ECO:0000255|PROSITE- ProRule:PRU00116}.				cilium assembly (GO:0042384)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)|photoreceptor connecting cilium (GO:0032391)|photoreceptor outer segment (GO:0001750)	calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)			NS(1)|biliary_tract(1)|breast(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(11)|prostate(1)|skin(1)	30				GBM - Glioblastoma multiforme(114;0.0983)		TGAAACTCCTCTGCAAAGCAA	0.353																																																	0													57.0	58.0	58.0					3																	121514315		2202	4299	6501	SO:0001583	missense	9657			D25278	CCDS33836.1, CCDS33837.1	3q21.1	2014-01-28	2004-09-02		ENSG00000173226	ENSG00000173226			28949	protein-coding gene	gene with protein product	"""nephrocystin-5"""	609237	"""IQ calmodulin-binding motif containing 1"""			15723066	Standard	NM_001023571		Approved	KIAA0036, NPHP5, SLSN5	uc010hre.1	Q15051	OTTHUMG00000128677	ENST00000310864.6:c.975G>C	3.37:g.121514315C>G	ENSP00000311505:p.Gln325His	Somatic		WXS	Illumina HiSeq	Phase_IV	Q3KS08|Q3KS09|Q5DKQ7|Q8NI79|Q9BS08	Missense_Mutation	SNP	pfam_IQ_motif_EF-hand-BS,superfamily_ARM-type_fold,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS	p.Q325H	ENST00000310864.6	37	c.975	CCDS33837.1	3	.	.	.	.	.	.	.	.	.	.	C	16.91	3.253290	0.59212	.	.	ENSG00000173226	ENST00000310864;ENST00000460108	D;D	0.81996	-1.56;-1.56	4.7	1.94	0.25998	.	0.000000	0.85682	D	0.000000	D	0.88463	0.6443	M	0.76328	2.33	0.80722	D	1	D	0.65815	0.995	D	0.77557	0.99	D	0.86535	0.1824	10	0.72032	D	0.01	-6.7203	8.3662	0.32389	0.0:0.7444:0.0:0.2556	.	325	Q15051	IQCB1_HUMAN	H	325;141	ENSP00000311505:Q325H;ENSP00000419168:Q141H	ENSP00000311505:Q325H	Q	-	3	2	IQCB1	122997005	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	0.814000	0.27239	0.310000	0.22990	0.460000	0.39030	CAG	IQCB1	-	NULL		0.353	IQCB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IQCB1	HGNC	protein_coding	OTTHUMT00000250573.1	C	NM_014642		121514315	-1	no_errors	ENST00000310864	ensembl	human	known	70_37	missense	SNP	1.000	G
IRAK1	3654	genome.wustl.edu	37	X	153278869	153278869	+	Missense_Mutation	SNP	C	C	G			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chrX:153278869C>G	ENST00000369980.3	-	12	1722	c.1555G>C	c.(1555-1557)Gag>Cag	p.E519Q	IRAK1_ENST00000369974.2_Missense_Mutation_p.E440Q|IRAK1_ENST00000477274.1_Intron|IRAK1_ENST00000429936.2_Intron|IRAK1_ENST00000393682.1_Intron|IRAK1_ENST00000393687.2_Intron	NM_001025242.1|NM_001569.3	NP_001020413.1|NP_001560.2	P51617	IRAK1_HUMAN	interleukin-1 receptor-associated kinase 1	519	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPK activity (GO:0000187)|activation of NF-kappaB-inducing kinase activity (GO:0007250)|cellular response to hypoxia (GO:0071456)|innate immune response (GO:0045087)|interleukin-1-mediated signaling pathway (GO:0070498)|JNK cascade (GO:0007254)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autophosphorylation (GO:0046777)|protein oligomerization (GO:0051259)|protein phosphorylation (GO:0006468)|protein ubiquitination (GO:0016567)|regulation of cytokine-mediated signaling pathway (GO:0001959)|response to interleukin-1 (GO:0070555)|response to lipopolysaccharide (GO:0032496)|response to peptidoglycan (GO:0032494)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome membrane (GO:0010008)|interleukin-1 receptor complex (GO:0045323)|lipid particle (GO:0005811)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|NF-kappaB-inducing kinase activity (GO:0004704)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(15)|ovary(2)	25	all_cancers(53;3.7e-16)|all_epithelial(53;3.44e-10)|all_lung(58;2.06e-07)|Lung NSC(58;2.72e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					TGCAGCTTCTCTAGCCTCTCG	0.662																																																	0																																										SO:0001583	missense	3654			L76191	CCDS14740.1, CCDS35443.1, CCDS35444.1	Xq28	2011-07-08			ENSG00000184216	ENSG00000184216			6112	protein-coding gene	gene with protein product		300283				9374458, 8599092	Standard	XM_005274668		Approved	IRAK, pelle	uc004fjs.1	P51617	OTTHUMG00000024228	ENST00000369980.3:c.1555G>C	X.37:g.153278869C>G	ENSP00000358997:p.Glu519Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	D3DWW3|D3DWW4|Q7Z5V4|Q96C06|Q96RL2	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Death,superfamily_Kinase-like_dom,superfamily_DEATH-like,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.E519Q	ENST00000369980.3	37	c.1555	CCDS14740.1	X	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.72|16.72	3.202269|3.202269	0.58234|0.58234	.|.	.|.	ENSG00000184216|ENSG00000184216	ENST00000369980;ENST00000369974|ENST00000444254;ENST00000443220	T;T|.	0.74632|.	1.31;-0.86|.	5.52|5.52	5.52|5.52	0.82312|0.82312	Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.56097|.	D|.	0.000025|.	T|T	0.49626|0.49626	0.1568|0.1568	N|N	0.17764|0.17764	0.52|0.52	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.87578|.	0.998;0.998|.	T|T	0.45920|0.45920	-0.9228|-0.9228	10|5	0.24483|.	T|.	0.36|.	-30.5185|-30.5185	13.7292|13.7292	0.62776|0.62776	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	440;519|.	P51617-4;P51617|.	.;IRAK1_HUMAN|.	Q|T	519;440|74;267	ENSP00000358997:E519Q;ENSP00000358991:E440Q|.	ENSP00000358991:E440Q|.	E|R	-|-	1|2	0|0	IRAK1|IRAK1	152932063|152932063	0.924000|0.924000	0.31332|0.31332	0.263000|0.263000	0.24496|0.24496	0.688000|0.688000	0.40055|0.40055	2.540000|2.540000	0.45727|0.45727	2.309000|2.309000	0.77851|0.77851	0.600000|0.600000	0.82982|0.82982	GAG|AGA	IRAK1	-	superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Prot_kinase_cat_dom		0.662	IRAK1-012	KNOWN	basic|appris_principal|CCDS	protein_coding	IRAK1	HGNC	protein_coding	OTTHUMT00000061143.3	C			153278869	-1	no_errors	ENST00000369980	ensembl	human	known	70_37	missense	SNP	0.922	G
IRF7	3665	genome.wustl.edu	37	11	613210	613210	+	Silent	SNP	G	G	A			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr11:613210G>A	ENST00000397574.2	-	9	1602	c.1233C>T	c.(1231-1233)ttC>ttT	p.F411F	IRF7_ENST00000397566.1_Silent_p.F424F|IRF7_ENST00000397562.3_Silent_p.F118F|IRF7_ENST00000525445.1_Silent_p.F305F|IRF7_ENST00000397570.1_Silent_p.F382F|IRF7_ENST00000330243.5_Silent_p.F424F|IRF7_ENST00000348655.6_Silent_p.F382F	NM_001572.3	NP_001563.2	Q92985	IRF7_HUMAN	interferon regulatory factor 7	411					cellular response to DNA damage stimulus (GO:0006974)|cytokine-mediated signaling pathway (GO:0019221)|establishment of viral latency (GO:0019043)|immunoglobulin mediated immune response (GO:0016064)|innate immune response (GO:0045087)|interferon-alpha production (GO:0032607)|interferon-beta production (GO:0032608)|interferon-gamma-mediated signaling pathway (GO:0060333)|MDA-5 signaling pathway (GO:0039530)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of macrophage apoptotic process (GO:2000110)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|positive regulation of type I interferon-mediated signaling pathway (GO:0060340)|regulation of adaptive immune response (GO:0002819)|regulation of immune response (GO:0050776)|regulation of monocyte differentiation (GO:0045655)|regulation of MyD88-dependent toll-like receptor signaling pathway (GO:0034124)|regulation of MyD88-independent toll-like receptor signaling pathway (GO:0034127)|regulation of type I interferon production (GO:0032479)|response to virus (GO:0009615)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|transcription from RNA polymerase II promoter (GO:0006366)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|type I interferon biosynthetic process (GO:0045351)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome membrane (GO:0010008)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity (GO:0000982)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)			endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	8		all_cancers(49;1.69e-08)|all_epithelial(84;1.65e-05)|Breast(177;0.000231)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.106)|all_lung(207;0.136)		all cancers(45;7.68e-28)|Epithelial(43;7.44e-27)|OV - Ovarian serous cystadenocarcinoma(40;3.53e-21)|BRCA - Breast invasive adenocarcinoma(625;6.96e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)		ACTGACCTTGGAAGAAGACTC	0.657																																																	0													15.0	20.0	18.0					11																	613210		2196	4297	6493	SO:0001819	synonymous_variant	3665			U53830	CCDS7703.1, CCDS7704.1, CCDS7705.1	11p15.5	2005-10-10			ENSG00000185507	ENSG00000185507			6122	protein-coding gene	gene with protein product		605047					Standard	XM_005252906		Approved		uc001lqh.3	Q92985	OTTHUMG00000132019	ENST00000397574.2:c.1233C>T	11.37:g.613210G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	B9EGL3|O00331|O00332|O00333|O75924|Q9UE79	Silent	SNP	pfam_Interferon_reg_factor-3,pfam_Interferon_reg_fact_DNA-bd_dom,superfamily_SMAD_FHA_domain,smart_Interferon_reg_fact_DNA-bd_dom,prints_Interferon_reg_fact_DNA-bd_dom	p.F424	ENST00000397574.2	37	c.1272	CCDS7703.1	11																																																																																			IRF7	-	pfam_Interferon_reg_factor-3,superfamily_SMAD_FHA_domain		0.657	IRF7-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	IRF7	HGNC	protein_coding	OTTHUMT00000255026.1	G	NM_001572		613210	-1	no_errors	ENST00000330243	ensembl	human	known	70_37	silent	SNP	0.586	A
IRGC	56269	genome.wustl.edu	37	19	44222854	44222854	+	Silent	SNP	C	C	T			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr19:44222854C>T	ENST00000244314.5	+	2	343	c.144C>T	c.(142-144)gcC>gcT	p.A48A		NM_019612.3	NP_062558.1	Q6NXR0	IIGP5_HUMAN	immunity-related GTPase family, cinema	48						membrane (GO:0016020)	GTP binding (GO:0005525)|hydrolase activity, acting on acid anhydrides (GO:0016817)			central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(16)|ovary(1)|prostate(1)|skin(2)	25		Prostate(69;0.0435)				AGCTGCTGGCCTCCACGGAAA	0.677																																					Colon(189;350 2037 11447 13433 38914)												0													35.0	41.0	39.0					19																	44222854		2203	4298	6501	SO:0001819	synonymous_variant	56269			BC066939	CCDS12629.1	19q13.32	2008-02-05	2005-10-31	2005-10-31	ENSG00000124449	ENSG00000124449			28835	protein-coding gene	gene with protein product			"""immunity-related GTPase family, cinema 1"""	IRGC1		12477932	Standard	NM_019612		Approved	Iigp5, CINEMA	uc002oxh.3	Q6NXR0	OTTHUMG00000154587	ENST00000244314.5:c.144C>T	19.37:g.44222854C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q05BR8	Silent	SNP	pfam_Interferon-induced_GTPase	p.A48	ENST00000244314.5	37	c.144	CCDS12629.1	19																																																																																			IRGC	-	pfam_Interferon-induced_GTPase		0.677	IRGC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IRGC	HGNC	protein_coding	OTTHUMT00000336191.1	C	NM_019612		44222854	+1	no_errors	ENST00000244314	ensembl	human	known	70_37	silent	SNP	0.598	T
IRS2	8660	genome.wustl.edu	37	13	110434810	110434810	+	Silent	SNP	G	G	A			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr13:110434810G>A	ENST00000375856.3	-	1	4105	c.3591C>T	c.(3589-3591)ggC>ggT	p.G1197G		NM_003749.2	NP_003740.2	Q9Y4H2	IRS2_HUMAN	insulin receptor substrate 2	1197					brain development (GO:0007420)|cell proliferation (GO:0008283)|cellular response to glucose stimulus (GO:0071333)|cellular response to insulin stimulus (GO:0032869)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lipid homeostasis (GO:0055088)|mammary gland development (GO:0030879)|negative regulation of B cell apoptotic process (GO:0002903)|negative regulation of kinase activity (GO:0033673)|negative regulation of plasma membrane long-chain fatty acid transport (GO:0010748)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of fatty acid beta-oxidation (GO:0032000)|positive regulation of glucose import (GO:0046326)|positive regulation of glucose metabolic process (GO:0010907)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of insulin secretion (GO:0032024)|positive regulation of mesenchymal cell proliferation (GO:0002053)|regulation of lipid metabolic process (GO:0019216)|response to glucose (GO:0009749)|signal transduction (GO:0007165)	cytosol (GO:0005829)|plasma membrane (GO:0005886)	signal transducer activity (GO:0004871)			kidney(2)|large_intestine(2)|lung(8)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	19	all_cancers(4;7.57e-15)|all_epithelial(4;5.91e-09)|all_lung(23;7.64e-07)|Lung NSC(43;0.000183)|Colorectal(4;0.00159)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0155)	Breast(118;0.159)	all cancers(43;0.00815)|BRCA - Breast invasive adenocarcinoma(86;0.11)|Epithelial(84;0.127)|GBM - Glioblastoma multiforme(44;0.147)			GCGGCTCGTCGCCCCCTCCAG	0.711																																					Melanoma(100;613 2409 40847)												0																																										SO:0001819	synonymous_variant	8660			AB000732	CCDS9510.1	13q34	2013-01-10			ENSG00000185950	ENSG00000185950		"""Pleckstrin homology (PH) domain containing"""	6126	protein-coding gene	gene with protein product		600797				9312143	Standard	NM_003749		Approved		uc001vqv.3	Q9Y4H2	OTTHUMG00000017338	ENST00000375856.3:c.3591C>T	13.37:g.110434810G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q96RR2|Q9BZG0|Q9Y6I5	Silent	SNP	pfam_Insln_rcpt_S1,pfam_Pleckstrin_homology,smart_Pleckstrin_homology,smart_Insln_rcpt_S1,pfscan_Pleckstrin_homology,pfscan_Insln_rcpt_S1,prints_Insln_rcpt_S1	p.G1197	ENST00000375856.3	37	c.3591	CCDS9510.1	13																																																																																			IRS2	-	NULL		0.711	IRS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IRS2	HGNC	protein_coding	OTTHUMT00000045755.1	G	NM_003749		110434810	-1	no_errors	ENST00000375856	ensembl	human	known	70_37	silent	SNP	0.014	A
IRS4	8471	genome.wustl.edu	37	X	107978807	107978807	+	Silent	SNP	C	C	G			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chrX:107978807C>G	ENST00000372129.2	-	1	844	c.768G>C	c.(766-768)ctG>ctC	p.L256L	RP6-24A23.3_ENST00000608811.1_RNA|RP6-24A23.3_ENST00000436013.1_RNA|RP6-24A23.6_ENST00000563887.1_5'Flank	NM_003604.2	NP_003595.1	O14654	IRS4_HUMAN	insulin receptor substrate 4	256	IRS-type PTB. {ECO:0000255|PROSITE- ProRule:PRU00389}.				positive regulation of signal transduction (GO:0009967)|signal transduction (GO:0007165)	plasma membrane (GO:0005886)	SH3/SH2 adaptor activity (GO:0005070)|signal transducer activity (GO:0004871)			NS(1)|breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(1)	78						CGGTTAGACACAGCCGGAACA	0.607																																																	0													58.0	49.0	52.0					X																	107978807		2203	4300	6503	SO:0001819	synonymous_variant	8471			AF007567	CCDS14544.1	Xq22.3	2008-08-01			ENSG00000133124	ENSG00000133124			6128	protein-coding gene	gene with protein product		300904				9261155, 9553137	Standard	NM_003604		Approved	PY160, IRS-4	uc004eoc.2	O14654	OTTHUMG00000022181	ENST00000372129.2:c.768G>C	X.37:g.107978807C>G		Somatic		WXS	Illumina HiSeq	Phase_IV		Silent	SNP	pfam_Insln_rcpt_S1,smart_Pleckstrin_homology,smart_Insln_rcpt_S1,pfscan_Pleckstrin_homology,pfscan_Insln_rcpt_S1,prints_Insln_rcpt_S1	p.L256	ENST00000372129.2	37	c.768	CCDS14544.1	X																																																																																			IRS4	-	pfam_Insln_rcpt_S1,smart_Insln_rcpt_S1,pfscan_Insln_rcpt_S1,prints_Insln_rcpt_S1		0.607	IRS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IRS4	HGNC	protein_coding	OTTHUMT00000057879.1	C	NM_003604		107978807	-1	no_errors	ENST00000372129	ensembl	human	known	70_37	silent	SNP	0.997	G
IRX6	79190	genome.wustl.edu	37	16	55362828	55362828	+	Missense_Mutation	SNP	C	C	T			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr16:55362828C>T	ENST00000290552.7	+	5	2270	c.938C>T	c.(937-939)gCg>gTg	p.A313V	RP11-26L20.3_ENST00000558730.2_RNA	NM_024335.2	NP_077311.2	P78412	IRX6_HUMAN	iroquois homeobox 6	313					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			breast(2)|central_nervous_system(5)|endometrium(3)|kidney(2)|large_intestine(6)|liver(2)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	33						GGCCTGGCTGCGCCCCGCTTC	0.647																																																	0													43.0	46.0	45.0					16																	55362828		2198	4296	6494	SO:0001583	missense	79190			AF319966	CCDS32449.1	16q12.2	2011-06-20	2007-07-13	2003-01-10		ENSG00000159387		"""Homeoboxes / TALE class"""	14675	protein-coding gene	gene with protein product		606196	"""iroquois homeobox protein 7"", ""iroquois homeobox protein 6"""	IRX7			Standard	NM_024335		Approved	IRX-3	uc002ehy.3	P78412		ENST00000290552.7:c.938C>T	16.37:g.55362828C>T	ENSP00000290552:p.Ala313Val	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RN06|Q7Z2K0	Missense_Mutation	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Homeodomain,smart_Iroquois_homeo,pfscan_Homeodomain	p.A313V	ENST00000290552.7	37	c.938	CCDS32449.1	16	.	.	.	.	.	.	.	.	.	.	C	6.648	0.488077	0.12641	.	.	ENSG00000159387	ENST00000290552	D	0.89343	-2.5	5.27	3.31	0.37934	.	0.604497	0.17419	N	0.174918	T	0.76428	0.3986	N	0.14661	0.345	0.09310	N	1	B	0.10296	0.003	B	0.06405	0.002	T	0.58825	-0.7568	10	0.15499	T	0.54	-1.5821	8.3805	0.32468	0.0:0.8126:0.0:0.1874	.	313	P78412	IRX6_HUMAN	V	313	ENSP00000290552:A313V	ENSP00000290552:A313V	A	+	2	0	IRX6	53920329	0.000000	0.05858	0.012000	0.15200	0.022000	0.10575	0.058000	0.14301	0.596000	0.29794	0.462000	0.41574	GCG	IRX6	-	NULL		0.647	IRX6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IRX6	HGNC	protein_coding	OTTHUMT00000417445.4	C	NM_024335		55362828	+1	no_errors	ENST00000290552	ensembl	human	known	70_37	missense	SNP	0.001	T
ITGB2	3689	genome.wustl.edu	37	21	46330647	46330647	+	Silent	SNP	G	G	A			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr21:46330647G>A	ENST00000397850.2	-	3	503	c.51C>T	c.(49-51)ctC>ctT	p.L17L	ITGB2_ENST00000397854.3_Silent_p.L17L|ITGB2_ENST00000397857.1_Silent_p.L17L|ITGB2_ENST00000523126.1_5'Flank|ITGB2_ENST00000302347.5_Silent_p.L17L|ITGB2_ENST00000355153.4_Silent_p.L17L|ITGB2_ENST00000397846.3_Silent_p.L17L|ITGB2_ENST00000397852.1_Silent_p.L17L			P05107	ITB2_HUMAN	integrin, beta 2 (complement component 3 receptor 3 and 4 subunit)	17					apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|cell-matrix adhesion (GO:0007160)|endodermal cell differentiation (GO:0035987)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|neutrophil chemotaxis (GO:0030593)|receptor clustering (GO:0043113)|regulation of cell shape (GO:0008360)|regulation of immune response (GO:0050776)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integrin alphaL-beta2 complex (GO:0034687)|integrin complex (GO:0008305)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|vesicle (GO:0031982)	cell adhesion molecule binding (GO:0050839)|glycoprotein binding (GO:0001948)|ICAM-3 receptor activity (GO:0030369)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)			breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(6)|lung(14)|ovary(4)|skin(3)	35				Colorectal(79;0.0669)	Simvastatin(DB00641)	CACCGCACCCGAGGGAGAGCA	0.642																																																	0													45.0	47.0	46.0					21																	46330647		2203	4300	6503	SO:0001819	synonymous_variant	3689			AK222505	CCDS13716.1	21q22.3	2014-09-17	2006-03-02		ENSG00000160255	ENSG00000160255		"""CD molecules"", ""Complement system"", ""Integrins"""	6155	protein-coding gene	gene with protein product		600065	"""integrin, beta 2 (antigen CD18 (p95), lymphocyte function-associated antigen 1; macrophage antigen 1 (mac-1) beta subunit)"""	CD18, MFI7			Standard	NM_000211		Approved	LFA-1, MAC-1	uc002zgf.3	P05107	OTTHUMG00000090257	ENST00000397850.2:c.51C>T	21.37:g.46330647G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	B3KTS8|D3DSM1|Q16418|Q53HS5|Q9UD72	Silent	SNP	pirsf_Integrin_bsu,pfam_Integrin_bsu_N,pfam_Integrin_bsu_tail,pfam_Integrin_bsu_cyt,pfam_EGF_extracell,superfamily_Integrin_bsu_tail,superfamily_Plexin-like_fold,smart_Plexin-like,smart_Integrin_bsu_N,prints_Integrin_bsu	p.L17	ENST00000397850.2	37	c.51	CCDS13716.1	21																																																																																			ITGB2	-	pirsf_Integrin_bsu		0.642	ITGB2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ITGB2	HGNC	protein_coding	OTTHUMT00000206566.2	G	NM_000211		46330647	-1	no_errors	ENST00000302347	ensembl	human	known	70_37	silent	SNP	0.000	A
ITPR2	3709	genome.wustl.edu	37	12	26774150	26774150	+	Missense_Mutation	SNP	A	A	G			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr12:26774150A>G	ENST00000381340.3	-	26	3784	c.3368T>C	c.(3367-3369)gTa>gCa	p.V1123A	ITPR2_ENST00000545902.1_5'UTR|RP11-666F17.1_ENST00000414098.2_RNA	NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2	1123					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|cellular response to cAMP (GO:0071320)|cellular response to ethanol (GO:0071361)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|regulation of insulin secretion (GO:0050796)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	cell cortex (GO:0005938)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet dense tubular network membrane (GO:0031095)|receptor complex (GO:0043235)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion transmembrane transporter activity (GO:0015085)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|phosphatidylinositol binding (GO:0035091)		ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)				Caffeine(DB00201)	AGACTTTTCTACTGTCAGTCG	0.418																																																	0													328.0	302.0	310.0					12																	26774150		1889	4127	6016	SO:0001583	missense	3709			D26350	CCDS41764.1	12p11.23	2014-07-18	2011-04-28		ENSG00000123104	ENSG00000123104		"""Ion channels / Inositol triphosphate receptors"""	6181	protein-coding gene	gene with protein product	"""cilia and flagella associated protein 48"""	600144	"""inositol 1,4,5-triphosphate receptor, type 2"""			8081734	Standard	XM_006719064		Approved	IP3R2, CFAP48	uc001rhg.3	Q14571	OTTHUMG00000169181	ENST00000381340.3:c.3368T>C	12.37:g.26774150A>G	ENSP00000370744:p.Val1123Ala	Somatic		WXS	Illumina HiSeq	Phase_IV	O94773	Missense_Mutation	SNP	pfam_Ca-rel_channel,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ARM-type_fold,smart_MIR_motif,pfscan_MIR_motif,prints_InsP3_rcpt-bd	p.V1123A	ENST00000381340.3	37	c.3368	CCDS41764.1	12	.	.	.	.	.	.	.	.	.	.	A	23.2	4.384263	0.82792	.	.	ENSG00000123104	ENST00000381340	D	0.93366	-3.21	4.82	4.82	0.62117	.	0.058263	0.64402	D	0.000002	D	0.95872	0.8656	M	0.84511	2.7	0.80722	D	1	D	0.61697	0.99	P	0.56127	0.792	D	0.96366	0.9270	10	0.66056	D	0.02	.	14.5562	0.68101	1.0:0.0:0.0:0.0	.	1123	Q14571	ITPR2_HUMAN	A	1123	ENSP00000370744:V1123A	ENSP00000370744:V1123A	V	-	2	0	ITPR2	26665417	1.000000	0.71417	0.875000	0.34327	0.715000	0.41141	9.087000	0.94110	2.024000	0.59613	0.528000	0.53228	GTA	ITPR2	-	superfamily_ARM-type_fold		0.418	ITPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ITPR2	HGNC	protein_coding	OTTHUMT00000402732.1	A	NM_002223		26774150	-1	no_errors	ENST00000381340	ensembl	human	known	70_37	missense	SNP	0.998	G
ITSN2	50618	genome.wustl.edu	37	2	24518561	24518561	+	Missense_Mutation	SNP	T	T	A			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr2:24518561T>A	ENST00000355123.4	-	14	2050	c.1607A>T	c.(1606-1608)gAa>gTa	p.E536V	ITSN2_ENST00000361999.3_Missense_Mutation_p.E536V|ITSN2_ENST00000406921.3_Missense_Mutation_p.E536V	NM_006277.2	NP_006268.2	Q9NZM3	ITSN2_HUMAN	intersectin 2	536					endocytosis (GO:0006897)|positive regulation of signal transduction (GO:0009967)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)|SH3/SH2 adaptor activity (GO:0005070)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(8)|large_intestine(11)|liver(3)|lung(28)|ovary(2)|stomach(1)	61	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TTGCTTGATTTCCATAATTTC	0.428																																																	0													175.0	171.0	172.0					2																	24518561		2203	4300	6503	SO:0001583	missense	50618			AB033082	CCDS1710.2, CCDS1711.2, CCDS46230.1	2p23.3	2013-09-19	2002-10-30		ENSG00000198399	ENSG00000198399		"""Rho guanine nucleotide exchange factors"", ""EF-hand domain containing"""	6184	protein-coding gene	gene with protein product	"""SH3 domain protein 1B"", ""SH3P18-like WASP associated protein"""	604464	"""SH3 domain protein 1B"""	SH3D1B		10922467, 11748279	Standard	NM_006277		Approved	KIAA1256, SWAP, SH3P18, SWA, PRO2015	uc002rfe.2	Q9NZM3	OTTHUMG00000090818	ENST00000355123.4:c.1607A>T	2.37:g.24518561T>A	ENSP00000347244:p.Glu536Val	Somatic		WXS	Illumina HiSeq	Phase_IV	O95062|Q15812|Q9HAK4|Q9NXE6|Q9NYG0|Q9NZM2|Q9ULG4	Missense_Mutation	SNP	pfam_SH3_domain,pfam_SH3_2,pfam_DH-domain,pfam_C2_Ca-dep,superfamily_DH-domain,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_SH3_domain,smart_EPS15_homology,smart_EF_hand_Ca-bd,smart_SH3_domain,smart_DH-domain,smart_Pleckstrin_homology,smart_C2_Ca-dep,pfscan_EF_HAND_2,pfscan_EPS15_homology,pfscan_C2_membr_targeting,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain,prints_SH3_domain,prints_p67phox	p.E536V	ENST00000355123.4	37	c.1607	CCDS1710.2	2	.	.	.	.	.	.	.	.	.	.	T	18.47	3.630051	0.67015	.	.	ENSG00000198399	ENST00000361999;ENST00000355123;ENST00000380868;ENST00000445614;ENST00000406921;ENST00000412011	T;T;T;T;D	0.83163	-0.05;-0.0;-0.05;0.43;-1.69	5.39	5.39	0.77823	.	0.000000	0.38164	U	0.001800	D	0.90051	0.6893	M	0.71581	2.175	0.58432	D	0.999995	D;D;D;D	0.89917	1.0;1.0;0.999;0.999	D;D;D;D	0.71870	0.975;0.975;0.961;0.915	D	0.91129	0.4936	10	0.72032	D	0.01	.	15.73	0.77794	0.0:0.0:0.0:1.0	.	536;536;536;536	Q9NZM3-4;Q9NZM3-3;Q9NZM3-2;Q9NZM3	.;.;.;ITSN2_HUMAN	V	536;536;536;560;536;561	ENSP00000354561:E536V;ENSP00000347244:E536V;ENSP00000370250:E536V;ENSP00000384499:E536V;ENSP00000391224:E561V	ENSP00000347244:E536V	E	-	2	0	ITSN2	24372065	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.291000	0.78721	2.191000	0.70037	0.528000	0.53228	GAA	ITSN2	-	NULL		0.428	ITSN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ITSN2	HGNC	protein_coding	OTTHUMT00000207620.2	T	NM_006277		24518561	-1	no_errors	ENST00000355123	ensembl	human	known	70_37	missense	SNP	1.000	A
IVNS1ABP	10625	genome.wustl.edu	37	1	185266928	185266928	+	3'UTR	SNP	T	T	C			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr1:185266928T>C	ENST00000367498.3	-	0	2790				IVNS1ABP_ENST00000459929.1_5'UTR|IVNS1ABP_ENST00000392007.3_3'UTR	NM_006469.4	NP_006460.2	Q9Y6Y0	NS1BP_HUMAN	influenza virus NS1A binding protein						negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|response to virus (GO:0009615)|RNA splicing (GO:0008380)|transcription from RNA polymerase III promoter (GO:0006383)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|spliceosomal complex (GO:0005681)|transcription factor complex (GO:0005667)				breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|ovary(4)|prostate(2)	29						GGTTTATTCTTTTCCAAAAAG	0.343																																																	0																																										SO:0001624	3_prime_UTR_variant	10625			AB020657	CCDS1368.1	1q25.1-q31.1	2013-01-30			ENSG00000116679	ENSG00000116679		"""Kelch-like"", ""BTB/POZ domain containing"""	16951	protein-coding gene	gene with protein product	"""kelch-like family member 39"""	609209				9696811, 10048485	Standard	NM_006469		Approved	NS1-BP, HSPC068, NS-1, KIAA0850, ND1, KLHL39	uc001grl.3	Q9Y6Y0	OTTHUMG00000035384	ENST00000367498.3:c.*239A>G	1.37:g.185266928T>C		Somatic		WXS	Illumina HiSeq	Phase_IV	A8K8R6|Q1G4T6|Q1G4T7|Q5TF75|Q6NW38|Q7LCG2|Q9NZX0|Q9Y480	RNA	SNP	-	NULL	ENST00000367498.3	37	NULL	CCDS1368.1	1																																																																																			IVNS1ABP	-	-		0.343	IVNS1ABP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IVNS1ABP	HGNC	protein_coding	OTTHUMT00000085774.1	T	NM_006469		185266928	-1	no_errors	ENST00000459929	ensembl	human	known	70_37	rna	SNP	1.000	C
JAG1	182	genome.wustl.edu	37	20	10653409	10653409	+	Silent	SNP	G	G	C			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr20:10653409G>C	ENST00000254958.5	-	2	842	c.327C>G	c.(325-327)ctC>ctG	p.L109L	RP11-103J8.1_ENST00000605292.1_RNA	NM_000214.2	NP_000205.1	P78504	JAG1_HUMAN	jagged 1	109					angiogenesis (GO:0001525)|aorta morphogenesis (GO:0035909)|auditory receptor cell differentiation (GO:0042491)|blood vessel remodeling (GO:0001974)|cardiac neural crest cell development involved in outflow tract morphogenesis (GO:0061309)|cardiac right ventricle morphogenesis (GO:0003215)|cardiac septum morphogenesis (GO:0060411)|cell fate determination (GO:0001709)|ciliary body morphogenesis (GO:0061073)|distal tubule development (GO:0072017)|endocardial cushion cell development (GO:0061444)|endothelial cell differentiation (GO:0045446)|hemopoiesis (GO:0030097)|keratinocyte differentiation (GO:0030216)|loop of Henle development (GO:0072070)|morphogenesis of an epithelial sheet (GO:0002011)|myoblast differentiation (GO:0045445)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of stem cell differentiation (GO:2000737)|nervous system development (GO:0007399)|neuronal stem cell maintenance (GO:0097150)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|positive regulation of myeloid cell differentiation (GO:0045639)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|pulmonary artery morphogenesis (GO:0061156)|pulmonary valve morphogenesis (GO:0003184)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|response to muramyl dipeptide (GO:0032495)|T cell mediated immunity (GO:0002456)	apical part of cell (GO:0045177)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|growth factor activity (GO:0008083)|Notch binding (GO:0005112)|structural molecule activity (GO:0005198)			biliary_tract(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|urinary_tract(1)	44						GGCTGGCCTTGAGGTTGAAGG	0.662									Alagille Syndrome																																								0													51.0	48.0	49.0					20																	10653409		2203	4299	6502	SO:0001819	synonymous_variant	182	Familial Cancer Database	ALGS1, ALGS2.Alagille-Watson syndrome	U61276	CCDS13112.1	20p12.1-p11.23	2011-05-12	2010-06-24		ENSG00000101384	ENSG00000101384		"""CD molecules"""	6188	protein-coding gene	gene with protein product		601920	"""Alagille syndrome"""	AGS, JAGL1		7697721, 9207788	Standard	NM_000214		Approved	AHD, AWS, HJ1, CD339	uc002wnw.2	P78504	OTTHUMG00000031872	ENST00000254958.5:c.327C>G	20.37:g.10653409G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	A0AV43|B4DYR1|E9PCF9|O14902|O15122|Q15816	Silent	SNP	pfam_EG-like_dom,pfam_Notch_ligand_N,pfam_DSL,pfam_EGF_extracell,pfam_EGF-like_Ca-bd,smart_DSL,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_VWC_out,smart_VWF_C,pfscan_DSL,pfscan_EG-like_dom	p.L109	ENST00000254958.5	37	c.327	CCDS13112.1	20																																																																																			JAG1	-	pfam_Notch_ligand_N		0.662	JAG1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	JAG1	HGNC	protein_coding		G	NM_000214		10653409	-1	no_errors	ENST00000254958	ensembl	human	known	70_37	silent	SNP	0.998	C
JAKMIP3	282973	genome.wustl.edu	37	10	133961495	133961495	+	Missense_Mutation	SNP	G	G	C			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr10:133961495G>C	ENST00000298622.4	+	13	1927	c.1789G>C	c.(1789-1791)Gag>Cag	p.E597Q	JAKMIP3_ENST00000477275.1_3'UTR	NM_001105521.2	NP_001098991.1	Q5VZ66	JKIP3_HUMAN	Janus kinase and microtubule interacting protein 3	597						Golgi apparatus (GO:0005794)		p.E597K(1)		breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	31		all_cancers(35;5.63e-09)|all_epithelial(44;9.25e-07)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|Colorectal(31;0.0721)|all_neural(114;0.0726)|Breast(234;0.0949)|Glioma(114;0.172)|Melanoma(40;0.175)		OV - Ovarian serous cystadenocarcinoma(35;0.000104)|Epithelial(32;0.000142)|all cancers(32;0.000185)|BRCA - Breast invasive adenocarcinoma(275;0.224)		GCTCAGACACGAGGTGCAGGA	0.552																																																	1	Substitution - Missense(1)	large_intestine(1)											122.0	97.0	106.0					10																	133961495		2201	4295	6496	SO:0001583	missense	282973			AL832756	CCDS44494.1	10q26.3	2009-04-23	2009-04-23	2008-01-28	ENSG00000188385	ENSG00000188385			23523	protein-coding gene	gene with protein product	"""neuroendocrine long coiled-coil 2"""	611198	"""chromosome 10 open reading frame 39"", ""chromosome 10 open reading frame 14"""	C10orf39, C10orf14		15277531, 17572408	Standard	NM_001105521		Approved	FLJ37857, NECC2, KIAA4091, bA140A10.5	uc001lkx.4	Q5VZ66	OTTHUMG00000150167	ENST00000298622.4:c.1789G>C	10.37:g.133961495G>C	ENSP00000298622:p.Glu597Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	A6PW00|Q69YM6|Q6ZT29	Missense_Mutation	SNP	NULL	p.E597Q	ENST00000298622.4	37	c.1789	CCDS44494.1	10	.	.	.	.	.	.	.	.	.	.	G	15.13	2.740969	0.49151	.	.	ENSG00000188385	ENST00000298622	T	0.30182	1.54	4.39	4.39	0.52855	.	.	.	.	.	T	0.45276	0.1334	L	0.45352	1.415	0.40647	D	0.982	D;P	0.71674	0.998;0.933	D;P	0.63703	0.917;0.755	T	0.37291	-0.9712	9	0.34782	T	0.22	.	16.9566	0.86261	0.0:0.0:1.0:0.0	.	34;597	Q5VZ66-2;Q5VZ66	.;JKIP3_HUMAN	Q	597	ENSP00000298622:E597Q	ENSP00000298622:E597Q	E	+	1	0	JAKMIP3	133811485	1.000000	0.71417	0.932000	0.37286	0.074000	0.17049	8.894000	0.92506	1.999000	0.58509	0.556000	0.70494	GAG	JAKMIP3	-	NULL		0.552	JAKMIP3-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	JAKMIP3	HGNC	protein_coding	OTTHUMT00000051049.3	G	NM_194303		133961495	+1	no_errors	ENST00000298622	ensembl	human	known	70_37	missense	SNP	1.000	C
JAKMIP3	282973	genome.wustl.edu	37	10	133981523	133981523	+	3'UTR	SNP	G	G	A	rs538283691		TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr10:133981523G>A	ENST00000298622.4	+	0	2762				JAKMIP3_ENST00000477275.1_3'UTR	NM_001105521.2	NP_001098991.1	Q5VZ66	JKIP3_HUMAN	Janus kinase and microtubule interacting protein 3							Golgi apparatus (GO:0005794)				breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(10)|ovary(2)|prostate(1)|upper_aerodigestive_tract(2)	31		all_cancers(35;5.63e-09)|all_epithelial(44;9.25e-07)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|Colorectal(31;0.0721)|all_neural(114;0.0726)|Breast(234;0.0949)|Glioma(114;0.172)|Melanoma(40;0.175)		OV - Ovarian serous cystadenocarcinoma(35;0.000104)|Epithelial(32;0.000142)|all cancers(32;0.000185)|BRCA - Breast invasive adenocarcinoma(275;0.224)		GGGACGTCGCGTCTCCATCCT	0.582													G|||	1	0.000199681	0.0	0.0014	5008	,	,		14604	0.0		0.0	False		,,,				2504	0.0																0																																										SO:0001624	3_prime_UTR_variant	282973			AL832756	CCDS44494.1	10q26.3	2009-04-23	2009-04-23	2008-01-28	ENSG00000188385	ENSG00000188385			23523	protein-coding gene	gene with protein product	"""neuroendocrine long coiled-coil 2"""	611198	"""chromosome 10 open reading frame 39"", ""chromosome 10 open reading frame 14"""	C10orf39, C10orf14		15277531, 17572408	Standard	NM_001105521		Approved	FLJ37857, NECC2, KIAA4091, bA140A10.5	uc001lkx.4	Q5VZ66	OTTHUMG00000150167	ENST00000298622.4:c.*89G>A	10.37:g.133981523G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	A6PW00|Q69YM6|Q6ZT29	RNA	SNP	-	NULL	ENST00000298622.4	37	NULL	CCDS44494.1	10																																																																																			JAKMIP3	-	-		0.582	JAKMIP3-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	JAKMIP3	HGNC	protein_coding	OTTHUMT00000051049.3	G	NM_194303		133981523	+1	no_errors	ENST00000477275	ensembl	human	known	70_37	rna	SNP	0.000	A
JRK	8629	genome.wustl.edu	37	8	143746288	143746288	+	RNA	SNP	G	G	C			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr8:143746288G>C	ENST00000507178.2	-	0	1522							O75564	JERKY_HUMAN	Jrk homolog (mouse)							nucleus (GO:0005634)	DNA binding (GO:0003677)					all_cancers(97;3.96e-12)|all_epithelial(106;1.19e-08)|Lung NSC(106;0.000413)|all_lung(105;0.00106)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)	Acute lymphoblastic leukemia(644;2.31e-05)				ctcctcctcagaggaggagcc	0.622																																																	0													12.0	13.0	13.0					8																	143746288		2034	4187	6221			8629			AF072467	CCDS75796.1, CCDS75797.1	8q24.3	2014-03-28	2014-03-28			ENSG00000234616			6199	protein-coding gene	gene with protein product		603210	"""jerky (mouse) homolog"", ""jerky homolog (mouse)"""			9675132	Standard	NM_003724		Approved	JH8, jerky	uc003ywo.3	O75564			8.37:g.143746288G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	O75565	RNA	SNP	-	NULL	ENST00000507178.2	37	NULL		8																																																																																			JRK	-	-		0.622	JRK-003	KNOWN	basic	processed_transcript	JRK	HGNC	processed_transcript	OTTHUMT00000362914.1	G	NM_003724		143746288	-1	no_errors	ENST00000422119	ensembl	human	known	70_37	rna	SNP	0.000	C
KANK2	25959	genome.wustl.edu	37	19	11304469	11304469	+	Missense_Mutation	SNP	C	C	T			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr19:11304469C>T	ENST00000586659.1	-	4	601	c.287G>A	c.(286-288)cGc>cAc	p.R96H	KANK2_ENST00000355150.5_Missense_Mutation_p.R96H|KANK2_ENST00000589894.1_Missense_Mutation_p.R96H|KANK2_ENST00000432929.2_Missense_Mutation_p.R96H|KANK2_ENST00000589359.1_Missense_Mutation_p.R96H			Q63ZY3	KANK2_HUMAN	KN motif and ankyrin repeat domains 2	96					apoptotic process (GO:0006915)|negative regulation of cell proliferation (GO:0008285)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of programmed cell death (GO:0043069)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)				endometrium(2)|large_intestine(1)|lung(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	14						GGCTGAGTGGCGGCTGTCCCC	0.682																																																	0													40.0	42.0	42.0					19																	11304469		2196	4288	6484	SO:0001583	missense	25959			AK000011	CCDS12255.1, CCDS54219.1	19p13.2	2013-01-10	2008-01-29	2008-01-29		ENSG00000197256		"""KN motif and ankyrin repeat domain containing"", ""Ankyrin repeat domain containing"""	29300	protein-coding gene	gene with protein product		614610	"""matrix-remodelling associated 3"", ""ankyrin repeat domain 25"""	MXRA3, ANKRD25		10819331, 17996375, 19554261	Standard	NM_015493		Approved	KIAA1518	uc002mqm.3	Q63ZY3		ENST00000586659.1:c.287G>A	19.37:g.11304469C>T	ENSP00000465650:p.Arg96His	Somatic		WXS	Illumina HiSeq	Phase_IV	B0I1P4|Q3KQZ3|Q6GUF5|Q9H8S4|Q9NUP0|Q9P210	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_KN_motif,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.R96H	ENST00000586659.1	37	c.287	CCDS12255.1	19	.	.	.	.	.	.	.	.	.	.	C	14.79	2.639345	0.47153	.	.	ENSG00000197256	ENST00000432929;ENST00000355150	T;T	0.47869	0.83;0.85	4.38	4.38	0.52667	.	0.000000	0.64402	D	0.000001	T	0.62502	0.2433	M	0.64997	1.995	0.44417	D	0.997333	D;P;D	0.89917	1.0;0.796;0.973	D;B;P	0.85130	0.997;0.263;0.632	T	0.63492	-0.6625	10	0.51188	T	0.08	-14.8737	10.2444	0.43332	0.0:0.9012:0.0:0.0988	.	96;96;96	Q63ZY3-3;Q63ZY3;Q63ZY3-2	.;KANK2_HUMAN;.	H	96	ENSP00000395650:R96H;ENSP00000347276:R96H	ENSP00000347276:R96H	R	-	2	0	KANK2	11165469	1.000000	0.71417	1.000000	0.80357	0.269000	0.26545	3.413000	0.52686	1.986000	0.57962	0.462000	0.41574	CGC	KANK2	-	NULL		0.682	KANK2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	KANK2	HGNC	protein_coding	OTTHUMT00000453066.2	C	NM_015493		11304469	-1	no_errors	ENST00000432929	ensembl	human	known	70_37	missense	SNP	1.000	T
KAT2A	2648	genome.wustl.edu	37	17	40269601	40269601	+	Missense_Mutation	SNP	G	G	A			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr17:40269601G>A	ENST00000225916.5	-	10	1495	c.1442C>T	c.(1441-1443)tCg>tTg	p.S481L		NM_021078.2	NP_066564.2	Q92830	KAT2A_HUMAN	K(lysine) acetyltransferase 2A	481					cell proliferation (GO:0008283)|chromatin organization (GO:0006325)|chromatin remodeling (GO:0006338)|histone deubiquitination (GO:0016578)|histone H3 acetylation (GO:0043966)|histone H3-K14 acetylation (GO:0044154)|in utero embryonic development (GO:0001701)|metencephalon development (GO:0022037)|midbrain development (GO:0030901)|multicellular organism growth (GO:0035264)|neural tube closure (GO:0001843)|positive regulation of gluconeogenesis (GO:0045722)|regulation of protein stability (GO:0031647)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|somitogenesis (GO:0001756)|telencephalon development (GO:0021537)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)|extracellular space (GO:0005615)|mitotic spindle (GO:0072686)|nucleoplasm (GO:0005654)|STAGA complex (GO:0030914)|transcription factor TFTC complex (GO:0033276)	chromatin binding (GO:0003682)|H3 histone acetyltransferase activity (GO:0010484)|histone acetyltransferase activity (GO:0004402)|histone acetyltransferase activity (H4-K12 specific) (GO:0043997)|histone deacetylase binding (GO:0042826)|transcription coactivator activity (GO:0003713)			central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(4)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						CGCATTGGCCGAAAGCAGGCT	0.672																																																	0													17.0	18.0	18.0					17																	40269601		2198	4282	6480	SO:0001583	missense	2648			AF029777	CCDS11417.1	17q12-q21	2011-07-01	2008-07-04	2008-07-04	ENSG00000108773	ENSG00000108773		"""Chromatin-modifying enzymes / K-acetyltransferases"""	4201	protein-coding gene	gene with protein product		602301	"""GCN5 general control of amino-acid synthesis 5-like 2 (yeast)"""	GCN5L2		8552087	Standard	NM_021078		Approved	GCN5, PCAF-b	uc002hyx.2	Q92830	OTTHUMG00000133504	ENST00000225916.5:c.1442C>T	17.37:g.40269601G>A	ENSP00000225916:p.Ser481Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	Q8N1A2|Q9UCW1	Missense_Mutation	SNP	pirsf_Hist_acetylase_PCAF,pfam_PCAF_N,pfam_Bromodomain,pfam_GNAT_dom,superfamily_Bromodomain,superfamily_Acyl_CoA_acyltransferase,smart_Bromodomain,prints_Bromodomain,pfscan_Bromodomain,pfscan_GNAT_dom	p.S481L	ENST00000225916.5	37	c.1442	CCDS11417.1	17	.	.	.	.	.	.	.	.	.	.	G	16.39	3.110392	0.56398	.	.	ENSG00000108773	ENST00000225916	T	0.05649	3.41	4.7	3.72	0.42706	.	0.138721	0.50627	N	0.000103	T	0.11580	0.0282	M	0.78049	2.395	0.54753	D	0.999986	P	0.47350	0.894	B	0.41946	0.371	T	0.04551	-1.0943	10	0.51188	T	0.08	-9.2492	12.7755	0.57445	0.0802:0.0:0.9198:0.0	.	481	Q92830	KAT2A_HUMAN	L	481	ENSP00000225916:S481L	ENSP00000225916:S481L	S	-	2	0	KAT2A	37523127	1.000000	0.71417	0.891000	0.34965	0.506000	0.33950	9.869000	0.99810	0.974000	0.38366	0.561000	0.74099	TCG	KAT2A	-	pirsf_Hist_acetylase_PCAF		0.672	KAT2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KAT2A	HGNC	protein_coding	OTTHUMT00000257458.1	G	NM_021078		40269601	-1	no_errors	ENST00000225916	ensembl	human	known	70_37	missense	SNP	0.998	A
KAT6A	7994	genome.wustl.edu	37	8	41790749	41790749	+	Silent	SNP	C	C	T			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr8:41790749C>T	ENST00000396930.3	-	18	5532	c.4989G>A	c.(4987-4989)ccG>ccA	p.P1663P	KAT6A_ENST00000406337.1_Silent_p.P1663P|KAT6A_ENST00000265713.2_Silent_p.P1663P	NM_001099412.1	NP_001092882.1	Q92794	KAT6A_HUMAN	K(lysine) acetyltransferase 6A	1663	Gln/Pro-rich.|Interaction with PML.				aorta morphogenesis (GO:0035909)|cellular senescence (GO:0090398)|chromatin organization (GO:0006325)|DNA packaging (GO:0006323)|embryonic hemopoiesis (GO:0035162)|face morphogenesis (GO:0060325)|heart morphogenesis (GO:0003007)|histone acetylation (GO:0016573)|histone H3 acetylation (GO:0043966)|myeloid cell differentiation (GO:0030099)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|positive regulation of transcription, DNA-templated (GO:0045893)|protein acetylation (GO:0006473)|somatic stem cell maintenance (GO:0035019)|transcription, DNA-templated (GO:0006351)	Golgi apparatus (GO:0005794)|MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|PML body (GO:0016605)	acetyltransferase activity (GO:0016407)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)										gtggttgtggcggcggcggct	0.697																																																	0													15.0	14.0	14.0					8																	41790749		2179	4260	6439	SO:0001819	synonymous_variant	7994			U47742	CCDS6124.1	8p11	2013-01-28	2011-07-21	2011-07-21	ENSG00000083168	ENSG00000083168		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Zinc fingers, C2HC-type containing"", ""Zinc fingers, PHD-type"""	13013	protein-coding gene	gene with protein product	"""Monocytic leukemia zinc finger protein"""	601408	"""runt-related transcription factor binding protein 2"", ""MYST histone acetyltransferase (monocytic leukemia) 3"""	ZNF220, RUNXBP2, MYST3		8849440, 8782817	Standard	NM_001099412		Approved	MOZ, ZC2HC6A	uc003xon.4	Q92794	OTTHUMG00000150453	ENST00000396930.3:c.4989G>A	8.37:g.41790749C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q76L81	Silent	SNP	pfam_MOZ_SAS,pfam_Znf_PHD-finger,superfamily_Acyl_CoA_acyltransferase,superfamily_Znf_FYVE_PHD,smart_Histone_H1/H5,smart_Znf_PHD,pfscan_Znf_PHD-finger	p.P1663	ENST00000396930.3	37	c.4989	CCDS6124.1	8																																																																																			KAT6A	-	NULL		0.697	KAT6A-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	KAT6A	HGNC	protein_coding	OTTHUMT00000318163.1	C	NM_006766		41790749	-1	no_errors	ENST00000265713	ensembl	human	known	70_37	silent	SNP	0.259	T
KATNB1	10300	genome.wustl.edu	37	16	57778385	57778385	+	Missense_Mutation	SNP	C	C	T			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr16:57778385C>T	ENST00000379661.3	+	4	643	c.251C>T	c.(250-252)tCg>tTg	p.S84L		NM_005886.2	NP_005877.2			katanin p80 (WD repeat containing) subunit B 1											cervix(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	16		all_neural(199;0.223)				GGCTCTCAGTCGGGCTCCATC	0.632																																																	0													89.0	89.0	89.0					16																	57778385		2198	4300	6498	SO:0001583	missense	10300			AF052432	CCDS10788.1	16q12.2	2013-01-09	2003-03-13		ENSG00000140854	ENSG00000140854		"""WD repeat domain containing"""	6217	protein-coding gene	gene with protein product		602703	"""katanin p80 (WD40-containing) subunit B 1"""			9568719	Standard	XM_006721121		Approved		uc002eml.1	Q9BVA0	OTTHUMG00000133467	ENST00000379661.3:c.251C>T	16.37:g.57778385C>T	ENSP00000368982:p.Ser84Leu	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.S84L	ENST00000379661.3	37	c.251	CCDS10788.1	16	.	.	.	.	.	.	.	.	.	.	C	36	5.910249	0.97093	.	.	ENSG00000140854	ENST00000379661	T	0.60299	0.2	5.5	5.5	0.81552	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.75635	0.3876	M	0.66939	2.045	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.77389	-0.2606	10	0.72032	D	0.01	-40.5638	18.3966	0.90501	0.0:1.0:0.0:0.0	.	84	Q9BVA0	KTNB1_HUMAN	L	84	ENSP00000368982:S84L	ENSP00000368982:S84L	S	+	2	0	KATNB1	56335886	1.000000	0.71417	0.998000	0.56505	0.998000	0.95712	7.509000	0.81698	2.593000	0.87608	0.655000	0.94253	TCG	KATNB1	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom		0.632	KATNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KATNB1	HGNC	protein_coding	OTTHUMT00000257343.3	C			57778385	+1	no_errors	ENST00000379661	ensembl	human	known	70_37	missense	SNP	1.000	T
KBTBD7	84078	genome.wustl.edu	37	13	41768292	41768292	+	Silent	SNP	G	G	A			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr13:41768292G>A	ENST00000379483.3	-	1	410	c.102C>T	c.(100-102)ttC>ttT	p.F34F		NM_032138.4	NP_115514.2	Q8WVZ9	KBTB7_HUMAN	kelch repeat and BTB (POZ) domain containing 7	34										central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(8)|ovary(4)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24		Lung NSC(96;0.000105)|Breast(139;0.00715)|Prostate(109;0.0233)|Lung SC(185;0.0367)		all cancers(112;6.21e-09)|Epithelial(112;6.99e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000196)|GBM - Glioblastoma multiforme(144;0.000857)|BRCA - Breast invasive adenocarcinoma(63;0.0669)		CTGGACCCGTGAAAAAGGCCG	0.637																																																	0													84.0	91.0	88.0					13																	41768292		2203	4300	6503	SO:0001819	synonymous_variant	84078			AL136782	CCDS9377.1	13q13.3	2013-01-08			ENSG00000120696	ENSG00000120696		"""BTB/POZ domain containing"""	25266	protein-coding gene	gene with protein product						11230166	Standard	NM_032138		Approved	DKFZP434E2318	uc001uxw.1	Q8WVZ9	OTTHUMG00000016789	ENST00000379483.3:c.102C>T	13.37:g.41768292G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	B5TZ86|Q5T6Y7|Q8NB99|Q9H0I6	Silent	SNP	pfam_BTB_POZ,pfam_BACK,pfam_Kelch_1,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like	p.F34	ENST00000379483.3	37	c.102	CCDS9377.1	13																																																																																			KBTBD7	-	pirsf_Kelch-like_gigaxonin		0.637	KBTBD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KBTBD7	HGNC	protein_coding	OTTHUMT00000044660.1	G	NM_032138		41768292	-1	no_errors	ENST00000379483	ensembl	human	known	70_37	silent	SNP	1.000	A
KCNAB2	8514	genome.wustl.edu	37	1	6101914	6101914	+	Missense_Mutation	SNP	G	G	C			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr1:6101914G>C	ENST00000164247.1	+	3	665	c.101G>C	c.(100-102)aGa>aCa	p.R34T	KCNAB2_ENST00000378092.1_Intron|KCNAB2_ENST00000378087.3_Missense_Mutation_p.R34T|KCNAB2_ENST00000378111.1_Missense_Mutation_p.R34T|KCNAB2_ENST00000352527.1_Intron|KCNAB2_ENST00000602612.1_Missense_Mutation_p.R34T|KCNAB2_ENST00000341524.1_Missense_Mutation_p.R34T|AL035406.1_ENST00000594544.1_5'Flank|KCNAB2_ENST00000378097.1_Missense_Mutation_p.R34T	NM_001199860.1	NP_001186789.1	Q13303	KCAB2_HUMAN	potassium voltage-gated channel, shaker-related subfamily, beta member 2	34					hematopoietic progenitor cell differentiation (GO:0002244)|protein heterooligomerization (GO:0051291)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|juxtaparanode region of axon (GO:0044224)|plasma membrane (GO:0005886)	potassium channel regulator activity (GO:0015459)|voltage-gated potassium channel activity (GO:0005249)			large_intestine(1)|lung(4)|skin(3)	8	Ovarian(185;0.0634)	all_cancers(23;5.85e-39)|all_epithelial(116;4.88e-22)|all_lung(118;4.21e-08)|Lung NSC(185;9.77e-07)|all_hematologic(16;2.78e-06)|all_neural(13;3.18e-06)|Acute lymphoblastic leukemia(12;0.000272)|Breast(487;0.000496)|Renal(390;0.0007)|Colorectal(325;0.00106)|Glioma(11;0.00203)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0393)|Medulloblastoma(700;0.211)		Epithelial(90;6.9e-37)|GBM - Glioblastoma multiforme(13;8.8e-31)|OV - Ovarian serous cystadenocarcinoma(86;1.45e-19)|Colorectal(212;2.46e-07)|COAD - Colon adenocarcinoma(227;2.07e-05)|Kidney(185;7.88e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.00131)|BRCA - Breast invasive adenocarcinoma(365;0.00133)|STAD - Stomach adenocarcinoma(132;0.00391)|READ - Rectum adenocarcinoma(331;0.0649)		AGTCCCAAAAGACAGCTCCAG	0.532											OREG0013028	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													98.0	99.0	99.0					1																	6101914		2203	4300	6503	SO:0001583	missense	8514			U33429	CCDS55.1, CCDS56.1, CCDS55570.1, CCDS55571.1	1p36.3	2008-02-05			ENSG00000069424	ENSG00000069424		"""Potassium channels"", ""Aldo-keto reductases"""	6229	protein-coding gene	gene with protein product		601142				8838324	Standard	NM_003636		Approved	AKR6A5, KCNA2B, HKvbeta2.1, HKvbeta2.2	uc001aly.2	Q13303	OTTHUMG00000000795	ENST00000164247.1:c.101G>C	1.37:g.6101914G>C	ENSP00000164247:p.Arg34Thr	Somatic	631	WXS	Illumina HiSeq	Phase_IV	A0AVM9|A8K1A4|B0AZR7|O43659|Q5TG82|Q5TG83|Q6ZNE4|Q99411	Missense_Mutation	SNP	pfam_NADP_OxRdtase_dom,superfamily_NADP_OxRdtase_dom,prints_K_chnl_volt-dep_bsu_KCNAB-rel,prints_K_chnl_volt-dep_bsu_KCNAB2,prints_K_chnl_volt-dep_bsu_KCNAB1,prints_K_chnl_volt-dep_bsu_KCNAB3,tigrfam_K_chnl_volt-dep_bsu_KCNAB	p.R34T	ENST00000164247.1	37	c.101	CCDS55.1	1	.	.	.	.	.	.	.	.	.	.	G	11.69	1.713819	0.30413	.	.	ENSG00000069424	ENST00000378111;ENST00000378097;ENST00000445501;ENST00000389632;ENST00000378087;ENST00000341524;ENST00000164247	T;T;T;T;T;T	0.48836	0.81;3.56;3.14;0.8;3.56;3.56	4.84	4.84	0.62591	.	.	.	.	.	T	0.29223	0.0727	N	0.08118	0	0.80722	D	1	B;B	0.16166	0.0;0.016	B;B	0.20184	0.001;0.028	T	0.09952	-1.0651	9	0.14252	T	0.57	.	16.9375	0.86207	0.0:0.0:1.0:0.0	.	34;34	Q13303;Q2YD85	KCAB2_HUMAN;.	T	34	ENSP00000367351:R34T;ENSP00000367337:R34T;ENSP00000374283:R34T;ENSP00000367327:R34T;ENSP00000340824:R34T;ENSP00000164247:R34T	ENSP00000164247:R34T	R	+	2	0	KCNAB2	6024501	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.171000	0.89675	2.249000	0.74217	0.467000	0.42956	AGA	KCNAB2	-	prints_K_chnl_volt-dep_bsu_KCNAB2		0.532	KCNAB2-006	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	KCNAB2	HGNC	protein_coding	OTTHUMT00000002114.3	G	NM_172130		6101914	+1	no_errors	ENST00000164247	ensembl	human	known	70_37	missense	SNP	1.000	C
KCND2	3751	genome.wustl.edu	37	7	119915228	119915228	+	Missense_Mutation	SNP	G	G	A			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr7:119915228G>A	ENST00000331113.4	+	1	1507	c.542G>A	c.(541-543)aGc>aAc	p.S181N		NM_012281.2	NP_036413.1	Q9NZV8	KCND2_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 2	181					action potential (GO:0001508)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	dendritic spine (GO:0043197)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	A-type (transient outward) potassium channel activity (GO:0005250)|metal ion binding (GO:0046872)|voltage-gated potassium channel activity (GO:0005249)			NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(35)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	75	all_neural(327;0.117)				Amitriptyline(DB00321)|Dalfampridine(DB06637)|Disopyramide(DB00280)|Imipramine(DB00458)	CCCCACACCAGCACGATGGCC	0.607																																																	0													77.0	75.0	75.0					7																	119915228		2203	4300	6503	SO:0001583	missense	3751			AJ010969	CCDS5776.1	7q31	2012-07-05			ENSG00000184408	ENSG00000184408		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6238	protein-coding gene	gene with protein product		605410				10551270, 16382104	Standard	NM_012281		Approved	Kv4.2, RK5, KIAA1044	uc003vjj.1	Q9NZV8	OTTHUMG00000156989	ENST00000331113.4:c.542G>A	7.37:g.119915228G>A	ENSP00000333496:p.Ser181Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	O95012|O95021|Q2TBD3|Q9UBY7|Q9UN98|Q9UNH9	Missense_Mutation	SNP	pfam_K_chnl_volt-dep_Kv4_C,pfam_T1-type_BTB,pfam_Ion_trans_dom,pfam_Shal-type,pfam_Ion_trans_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv4,prints_K_chnl_volt-dep_Kv4.2,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv3	p.S181N	ENST00000331113.4	37	c.542	CCDS5776.1	7	.	.	.	.	.	.	.	.	.	.	G	16.09	3.025706	0.54683	.	.	ENSG00000184408	ENST00000331113	D	0.97710	-4.5	5.58	5.58	0.84498	.	0.000000	0.85682	D	0.000000	D	0.97657	0.9232	M	0.84683	2.71	0.49915	D	0.999839	B	0.32040	0.353	B	0.36418	0.224	D	0.97295	0.9927	9	.	.	.	.	19.5831	0.95478	0.0:0.0:1.0:0.0	.	181	Q9NZV8	KCND2_HUMAN	N	181	ENSP00000333496:S181N	.	S	+	2	0	KCND2	119702464	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.139000	0.71728	2.641000	0.89580	0.563000	0.77884	AGC	KCND2	-	prints_K_chnl,prints_K_chnl_volt-dep_Kv4		0.607	KCND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCND2	HGNC	protein_coding	OTTHUMT00000346996.1	G	NM_012281		119915228	+1	no_errors	ENST00000331113	ensembl	human	known	70_37	missense	SNP	1.000	A
KCNJ1	3758	genome.wustl.edu	37	11	128709383	128709383	+	Silent	SNP	G	G	A			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr11:128709383G>A	ENST00000392664.2	-	2	929	c.813C>T	c.(811-813)gtC>gtT	p.V271V	KCNJ1_ENST00000392665.2_Silent_p.V252V|KCNJ1_ENST00000392666.1_Silent_p.V252V|KCNJ1_ENST00000324036.3_Silent_p.V252V|KCNJ1_ENST00000440599.2_Silent_p.V252V	NM_000220.4	NP_000211.1	P48048	KCNJ1_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 1	271					cardiovascular system development (GO:0072358)|excretion (GO:0007588)|kidney development (GO:0001822)|post-embryonic development (GO:0009791)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of G-protein activated inward rectifier potassium channel activity (GO:1900128)|renal sodium ion absorption (GO:0070294)|synaptic transmission (GO:0007268)|tissue homeostasis (GO:0001894)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|inward rectifier potassium channel activity (GO:0005242)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			breast(2)|endometrium(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)	23	all_hematologic(175;0.0641)	all_lung(97;4.89e-06)|Lung NSC(97;9.34e-06)|Breast(109;0.00123)|all_hematologic(192;0.00793)|Renal(330;0.0112)|all_neural(223;0.0189)|Medulloblastoma(222;0.0425)		OV - Ovarian serous cystadenocarcinoma(99;4.05e-06)|LUSC - Lung squamous cell carcinoma(976;0.008)|Lung(977;0.00942)	Bethanidine(DB00217)|Glimepiride(DB00222)|Glyburide(DB01016)|Glycodiazine(DB01382)|Minoxidil(DB00350)|Tolazamide(DB00839)|Tolbutamide(DB01124)|Yohimbine(DB01392)	TGTGATCAATGACATGGTAAA	0.428																																																	0													79.0	80.0	80.0					11																	128709383		2201	4297	6498	SO:0001819	synonymous_variant	3758			BC063109	CCDS8476.1, CCDS8477.1	11q24	2011-07-05			ENSG00000151704	ENSG00000151704		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6255	protein-coding gene	gene with protein product		600359				7680431, 8190102, 16382105	Standard	NM_153765		Approved	Kir1.1, ROMK1	uc001qeo.2	P48048	OTTHUMG00000048247	ENST00000392664.2:c.813C>T	11.37:g.128709383G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	B2RMR4|Q6LD67	Silent	SNP	pfam_K_chnl_inward-rec_Kir,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir1.1,prints_K_chnl_inward-rec_Kir	p.V271	ENST00000392664.2	37	c.813	CCDS8476.1	11																																																																																			KCNJ1	-	pfam_K_chnl_inward-rec_Kir,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir		0.428	KCNJ1-004	KNOWN	basic|CCDS	protein_coding	KCNJ1	HGNC	protein_coding	OTTHUMT00000386233.1	G	NM_000220		128709383	-1	no_errors	ENST00000392664	ensembl	human	known	70_37	silent	SNP	1.000	A
KCNJ6	3763	genome.wustl.edu	37	21	39086715	39086715	+	Missense_Mutation	SNP	C	C	T			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr21:39086715C>T	ENST00000609713.1	-	3	1334	c.745G>A	c.(745-747)Gag>Aag	p.E249K	KCNJ6_ENST00000288309.6_Missense_Mutation_p.E249K|KCNJ6-IT1_ENST00000435001.1_RNA	NM_002240.3	NP_002231.1	P48051	KCNJ6_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 6	249					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	G-protein activated inward rectifier potassium channel activity (GO:0015467)|inward rectifier potassium channel activity (GO:0005242)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	22					Halothane(DB01159)	AACTCCCCCTCCGAGGTCTGT	0.517																																					Pancreas(48;379 1118 2936 19024 28214)												0													97.0	98.0	98.0					21																	39086715		1912	4141	6053	SO:0001583	missense	3763			U24660	CCDS42927.1	21q22.1	2011-07-05			ENSG00000157542	ENSG00000157542		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6267	protein-coding gene	gene with protein product		600877		KCNJ7		7796919, 16382105	Standard	NM_002240		Approved	Kir3.2, GIRK2, KATP2, BIR1, hiGIRK2	uc002ywo.3	P48051	OTTHUMG00000086667	ENST00000609713.1:c.745G>A	21.37:g.39086715C>T	ENSP00000477437:p.Glu249Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q3MJ74|Q53WW6	Missense_Mutation	SNP	pfam_K_chnl_inward-rec_Kir,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir,prints_K_chnl_inward-rec_Kir3.2	p.E249K	ENST00000609713.1	37	c.745	CCDS42927.1	21	.	.	.	.	.	.	.	.	.	.	C	32	5.175865	0.94807	.	.	ENSG00000157542	ENST00000400482;ENST00000288309	D;D	0.96651	-4.08;-4.08	6.17	6.17	0.99709	Immunoglobulin E-set (1);Potassium channel, inwardly rectifying, Kir, conserved region 2 (1);Potassium channel, inwardly rectifying, Kir, cytoplasmic (1);	0.000000	0.85682	D	0.000000	D	0.98582	0.9526	H	0.97023	3.925	0.80722	D	1	P	0.39326	0.668	P	0.50109	0.631	D	0.98537	1.0630	10	0.87932	D	0	.	20.8794	0.99867	0.0:1.0:0.0:0.0	.	249	P48051	IRK6_HUMAN	K	249	ENSP00000383330:E249K;ENSP00000288309:E249K	ENSP00000288309:E249K	E	-	1	0	KCNJ6	38008585	1.000000	0.71417	0.972000	0.41901	0.983000	0.72400	7.818000	0.86416	2.941000	0.99782	0.655000	0.94253	GAG	KCNJ6	-	pfam_K_chnl_inward-rec_Kir,superfamily_Ig_E-set,pirsf_K_chnl_inward-rec_Kir		0.517	KCNJ6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNJ6	HGNC	protein_coding	OTTHUMT00000194828.2	C	NM_002240		39086715	-1	no_errors	ENST00000288309	ensembl	human	known	70_37	missense	SNP	1.000	T
KCNK1	3775	genome.wustl.edu	37	1	233750203	233750203	+	Missense_Mutation	SNP	G	G	A			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr1:233750203G>A	ENST00000366621.3	+	1	454	c.286G>A	c.(286-288)Gcc>Acc	p.A96T		NM_002245.3	NP_002236.1	O00180	KCNK1_HUMAN	potassium channel, subfamily K, member 1	96					potassium ion transport (GO:0006813)|response to nicotine (GO:0035094)|synaptic transmission (GO:0007268)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|endosome (GO:0005768)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	inward rectifier potassium channel activity (GO:0005242)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(4)|skin(1)	11		all_cancers(173;0.00217)|all_epithelial(177;0.121)|Prostate(94;0.122)|Acute lymphoblastic leukemia(190;0.175)			Ibutilide(DB00308)|Quinidine barbiturate(DB01346)|Quinidine(DB00908)	GCTCAGCAACGCCTCGGGCAA	0.662																																																	0													39.0	42.0	41.0					1																	233750203		2203	4300	6503	SO:0001583	missense	3775			U33632	CCDS1599.1	1q42-q43	2012-03-07			ENSG00000135750	ENSG00000135750		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Two-P"""	6272	protein-coding gene	gene with protein product		601745				8661042, 16382106	Standard	NM_002245		Approved	K2p1.1, DPK, TWIK-1	uc010pxo.1	O00180	OTTHUMG00000037923	ENST00000366621.3:c.286G>A	1.37:g.233750203G>A	ENSP00000355580:p.Ala96Thr	Somatic		WXS	Illumina HiSeq	Phase_IV	Q13307|Q5T5E8	Missense_Mutation	SNP	pfam_Ion_trans_2,pirsf_2pore_dom_K_chnl_TASK/TWIK,prints_2pore_dom_K_chnl_TWIK1,prints_2pore_dom_K_chnl_TWIK,prints_2pore_dom_K_chnl	p.A96T	ENST00000366621.3	37	c.286	CCDS1599.1	1	.	.	.	.	.	.	.	.	.	.	G	16.35	3.099509	0.56183	.	.	ENSG00000135750	ENST00000366621	T	0.28895	1.59	3.92	0.936	0.19488	Ion transport 2 (1);	0.120124	0.56097	N	0.000032	T	0.13372	0.0324	N	0.11673	0.155	0.80722	D	1	B	0.13594	0.008	B	0.10450	0.005	T	0.16276	-1.0408	10	0.13853	T	0.58	.	9.0175	0.36179	0.2409:0.0:0.7591:0.0	.	96	O00180	KCNK1_HUMAN	T	96	ENSP00000355580:A96T	ENSP00000355580:A96T	A	+	1	0	KCNK1	231816826	1.000000	0.71417	0.998000	0.56505	0.968000	0.65278	5.954000	0.70298	-0.030000	0.13804	-0.482000	0.04802	GCC	KCNK1	-	pfam_Ion_trans_2,pirsf_2pore_dom_K_chnl_TASK/TWIK,prints_2pore_dom_K_chnl_TWIK		0.662	KCNK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNK1	HGNC	protein_coding	OTTHUMT00000092565.1	G	NM_002245		233750203	+1	no_errors	ENST00000366621	ensembl	human	known	70_37	missense	SNP	1.000	A
RIMS4	140730	genome.wustl.edu	37	20	43378816	43378816	+	IGR	SNP	C	C	T			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr20:43378816C>T	ENST00000372851.3	-	0	5203				KCNK15_ENST00000372861.3_Silent_p.C110C	NM_001205317.1|NM_182970.3	NP_001192246.1|NP_892015.1	Q9H426	RIMS4_HUMAN	regulating synaptic membrane exocytosis 4						exocytosis (GO:0006887)|neurotransmitter transport (GO:0006836)|regulation of membrane potential (GO:0042391)	cell junction (GO:0030054)|presynaptic active zone (GO:0048786)|synaptic membrane (GO:0097060)				central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(11)|ovary(5)|urinary_tract(1)	29		Myeloproliferative disorder(115;0.0122)				AGGTCTTCTGCATGTTCTACG	0.677																																																	0													38.0	33.0	35.0					20																	43378816		2203	4300	6503	SO:0001628	intergenic_variant	60598				CCDS13338.1, CCDS56191.1	20q13.12	2005-02-03	2003-06-18	2003-06-20	ENSG00000101098	ENSG00000101098			16183	protein-coding gene	gene with protein product		611601	"""chromosome 20 open reading frame 190"""	C20orf190		12620390	Standard	NM_182970		Approved	dJ781B1.3	uc010ggu.3	Q9H426	OTTHUMG00000032546		20.37:g.43378816C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A4FU94|E1P613|Q3MI44|Q5JWT7	Silent	SNP	pfam_Ion_trans_2,pirsf_2pore_dom_K_chnl_TASK/TWIK,prints_2pore_dom_K_chnl_TASK5,prints_2pore_dom_K_chnl_TASK,prints_2pore_dom_K_chnl	p.C110	ENST00000372851.3	37	c.330	CCDS13338.1	20																																																																																			KCNK15	-	pfam_Ion_trans_2,pirsf_2pore_dom_K_chnl_TASK/TWIK,prints_2pore_dom_K_chnl		0.677	RIMS4-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	KCNK15	HGNC	protein_coding	OTTHUMT00000101027.2	C	NM_182970		43378816	+1	no_errors	ENST00000372861	ensembl	human	known	70_37	silent	SNP	1.000	T
KCNK5	8645	genome.wustl.edu	37	6	39159517	39159517	+	Missense_Mutation	SNP	C	C	T	rs376599617		TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr6:39159517C>T	ENST00000359534.3	-	5	987	c.649G>A	c.(649-651)Gcc>Acc	p.A217T		NM_003740.3	NP_003731.1	O95279	KCNK5_HUMAN	potassium channel, subfamily K, member 5	217					excretion (GO:0007588)|potassium ion transport (GO:0006813)	integral component of plasma membrane (GO:0005887)	potassium channel activity (GO:0005267)|voltage-gated ion channel activity (GO:0005244)			central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(4)|skin(3)	19						TGGTAGTTGGCGCTGGGGTTC	0.572																																																	0													76.0	86.0	82.0					6																	39159517		2201	4300	6501	SO:0001583	missense	8645			AF084830	CCDS4841.1	6p21	2012-03-07			ENSG00000164626	ENSG00000164626		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Two-P"""	6280	protein-coding gene	gene with protein product		603493				9812978, 16382106	Standard	XM_005249456		Approved	K2p5.1, TASK-2	uc003oon.3	O95279	OTTHUMG00000014642	ENST00000359534.3:c.649G>A	6.37:g.39159517C>T	ENSP00000352527:p.Ala217Thr	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RAQ6|B5TJL2|Q5VV76	Missense_Mutation	SNP	pfam_Ion_trans_2,prints_2pore_dom_K_chnl,prints_2pore_dom_K_chnl_TASK	p.A217T	ENST00000359534.3	37	c.649	CCDS4841.1	6	.	.	.	.	.	.	.	.	.	.	C	14.21	2.466944	0.43839	.	.	ENSG00000164626	ENST00000359534	T	0.21031	2.03	5.57	5.57	0.84162	Ion transport 2 (1);	0.504958	0.22978	N	0.053359	T	0.07908	0.0198	L	0.41632	1.29	0.42167	D	0.991622	P	0.35628	0.513	B	0.26416	0.069	T	0.13019	-1.0525	10	0.25751	T	0.34	.	13.7928	0.63152	0.0:0.9268:0.0:0.0732	.	217	O95279	KCNK5_HUMAN	T	217	ENSP00000352527:A217T	ENSP00000352527:A217T	A	-	1	0	KCNK5	39267495	0.998000	0.40836	0.998000	0.56505	0.997000	0.91878	3.511000	0.53400	2.619000	0.88677	0.561000	0.74099	GCC	KCNK5	-	pfam_Ion_trans_2		0.572	KCNK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNK5	HGNC	protein_coding	OTTHUMT00000040449.1	C	NM_003740		39159517	-1	no_errors	ENST00000359534	ensembl	human	known	70_37	missense	SNP	0.986	T
KCNT2	343450	genome.wustl.edu	37	1	196309500	196309500	+	Nonsense_Mutation	SNP	A	A	C			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr1:196309500A>C	ENST00000294725.9	-	16	2669	c.1754T>G	c.(1753-1755)tTa>tGa	p.L585*	KCNT2_ENST00000498426.1_5'UTR|KCNT2_ENST00000451324.2_Nonsense_Mutation_p.L196*|KCNT2_ENST00000367433.5_Nonsense_Mutation_p.L585*|KCNT2_ENST00000609185.1_Nonsense_Mutation_p.L535*|KCNT2_ENST00000367431.4_Nonsense_Mutation_p.L535*			Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2	585					potassium ion transmembrane transport (GO:0071805)	voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|calcium-activated potassium channel activity (GO:0015269)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						ATGTACAGGTAATCTGGAAGG	0.294																																																	0													109.0	102.0	105.0					1																	196309500		2203	4300	6503	SO:0001587	stop_gained	343450			BX647852, AY359444, AK127807	CCDS1384.1, CCDS72994.1, CCDS72995.1	1q31.3	2012-07-05			ENSG00000162687	ENSG00000162687		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	18866	protein-coding gene	gene with protein product	"""sodium and chloride activated ATP sensitive potassium channel"""	610044				16382103	Standard	NM_198503		Approved	KCa4.2, SLICK, SLO2.1	uc001gtd.1	Q6UVM3	OTTHUMG00000035611	ENST00000294725.9:c.1754T>G	1.37:g.196309500A>C	ENSP00000294725:p.Leu585*	Somatic		WXS	Illumina HiSeq	Phase_IV	Q3SY59|Q5VTN1|Q6ZMT3	Nonsense_Mutation	SNP	pfam_K_chnl_Ca-activ_BK_asu,pfam_Ion_trans_2	p.L585*	ENST00000294725.9	37	c.1754	CCDS1384.1	1	.	.	.	.	.	.	.	.	.	.	A	36	5.893521	0.97074	.	.	ENSG00000162687	ENST00000367433;ENST00000367431;ENST00000535608;ENST00000451324;ENST00000294725	.	.	.	5.84	5.84	0.93424	.	0.000000	0.49305	D	0.000153	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.05833	T	0.94	-13.2207	16.2047	0.82120	1.0:0.0:0.0:0.0	.	.	.	.	X	585;535;406;196;585	.	ENSP00000294725:L585X	L	-	2	0	KCNT2	194576123	1.000000	0.71417	0.646000	0.29493	0.996000	0.88848	9.280000	0.95786	2.220000	0.72140	0.528000	0.53228	TTA	KCNT2	-	NULL		0.294	KCNT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNT2	HGNC	protein_coding	OTTHUMT00000086418.2	A	NM_198503		196309500	-1	no_errors	ENST00000294725	ensembl	human	known	70_37	nonsense	SNP	0.998	C
KCNV1	27012	genome.wustl.edu	37	8	110980823	110980823	+	Missense_Mutation	SNP	G	G	A			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr8:110980823G>A	ENST00000524391.1	-	4	2029	c.997C>T	c.(997-999)Cgc>Tgc	p.R333C	KCNV1_ENST00000297404.1_Missense_Mutation_p.R333C			Q6PIU1	KCNV1_HUMAN	potassium channel, subfamily V, member 1	333					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)	p.R333S(1)		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)			CCAAGGGAGCGTAATCCTGCA	0.488																																																	1	Substitution - Missense(1)	lung(1)											68.0	54.0	59.0					8																	110980823		2203	4300	6503	SO:0001583	missense	27012			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.997C>T	8.37:g.110980823G>A	ENSP00000435954:p.Arg333Cys	Somatic		WXS	Illumina HiSeq	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.R333C	ENST00000524391.1	37	c.997	CCDS6314.1	8	.	.	.	.	.	.	.	.	.	.	G	16.66	3.183904	0.57800	.	.	ENSG00000164794	ENST00000524391;ENST00000297404;ENST00000545728	D;D	0.98012	-4.66;-4.66	5.62	4.71	0.59529	Ion transport (1);	0.067651	0.64402	D	0.000015	D	0.98852	0.9612	H	0.95611	3.695	0.49299	D	0.999776	D	0.76494	0.999	P	0.61800	0.894	D	0.99010	1.0814	10	0.87932	D	0	.	12.8497	0.57850	0.0:0.0:0.7087:0.2913	.	333	Q6PIU1	KCNV1_HUMAN	C	333;333;209	ENSP00000435954:R333C;ENSP00000297404:R333C	ENSP00000297404:R333C	R	-	1	0	KCNV1	111049999	0.990000	0.36364	0.997000	0.53966	0.749000	0.42624	2.186000	0.42593	2.628000	0.89032	0.655000	0.94253	CGC	KCNV1	-	pfam_Ion_trans_dom,prints_K_chnl		0.488	KCNV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNV1	HGNC	protein_coding	OTTHUMT00000385525.1	G	NM_014379		110980823	-1	no_errors	ENST00000297404	ensembl	human	known	70_37	missense	SNP	0.997	A
KCP	375616	genome.wustl.edu	37	7	128524104	128524105	+	RNA	INS	-	-	G	rs374429628	byFrequency	TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr7:128524104_128524105insG	ENST00000476647.2	-	0	3237_3238							Q6ZWJ8	KCP_HUMAN	kielin/chordin-like protein							extracellular region (GO:0005576)				central_nervous_system(1)|endometrium(3)	4						AGGAGCTGGCTGGGGGGGCAGC	0.673											OREG0018301	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	GGGGGGG|GGGGGGG|GGGGGGGG|insertion	12	0.00239617	0.0083	0.0	5008	,	,		17149	0.0		0.0	False		,,,				2504	0.001																0										24,2392		3,18,1187						2.0	0.8			17	4,4896		1,2,2447	no	frameshift	KCP	NM_001135914.1		4,20,3634	A1A1,A1R,RR		0.0816,0.9934,0.3827				28,7288						375616			AK122706		7q32.3	2009-11-06	2009-02-18	2009-02-18	ENSG00000135253	ENSG00000135253			17585	protein-coding gene	gene with protein product	"""kielin"""	609344	"""cysteine rich BMP regulator 2 (chordin-like)"""	CRIM2		15793581	Standard	NM_001135914		Approved	FLJ33365, NET67	uc011kor.2	Q6ZWJ8	OTTHUMG00000158363		7.37:g.128524111_128524111dupG		Somatic	1565	WXS	Illumina HiSeq	Phase_IV	Q8NBE0	RNA	INS	-	NULL	ENST00000476647.2	37	NULL		7																																																																																			KCP	-	-		0.673	KCP-006	KNOWN	basic	processed_transcript	KCP	HGNC	processed_transcript	OTTHUMT00000403051.1	-	NM_199349		128524105	-1	no_errors	ENST00000297801	ensembl	human	known	70_37	rna	INS	0.790:0.082	G
KDM3A	55818	genome.wustl.edu	37	2	86718364	86718364	+	Missense_Mutation	SNP	C	C	T			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr2:86718364C>T	ENST00000409556.1	+	26	4216	c.3851C>T	c.(3850-3852)tCa>tTa	p.S1284L	KDM3A_ENST00000542128.1_Missense_Mutation_p.S1232L|KDM3A_ENST00000312912.5_Missense_Mutation_p.S1284L|KDM3A_ENST00000409064.1_Missense_Mutation_p.S1284L			Q9Y4C1	KDM3A_HUMAN	lysine (K)-specific demethylase 3A	1284					androgen receptor signaling pathway (GO:0030521)|formaldehyde biosynthetic process (GO:0046293)|histone H3-K9 demethylation (GO:0033169)|histone H3-K9 dimethylation (GO:0036123)|hormone-mediated signaling pathway (GO:0009755)|negative regulation of histone H3-K9 methylation (GO:0051573)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|spermatid nucleus elongation (GO:0007290)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|core promoter binding (GO:0001047)|dioxygenase activity (GO:0051213)|iron ion binding (GO:0005506)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region sequence-specific DNA binding (GO:0000976)	p.S1284*(2)		NS(1)|breast(3)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|liver(1)|lung(13)|ovary(1)|prostate(3)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	47						CGATATCTGTCACAGACTCAT	0.403																																					NSCLC(96;1150 1523 6936 46253 49736)												2	Substitution - Nonsense(2)	upper_aerodigestive_tract(2)											112.0	109.0	110.0					2																	86718364		2203	4300	6503	SO:0001583	missense	55818			AB018285	CCDS1990.1	2p11.2	2011-07-01	2009-04-06	2009-04-06	ENSG00000115548	ENSG00000115548		"""Chromatin-modifying enzymes / K-demethylases"""	20815	protein-coding gene	gene with protein product	"""jumonji C domain-containing histone demethylase 2A"""	611512	"""jumonji domain containing 1"", ""jumonji domain containing 1A"""	JMJD1, JMJD1A		9872452	Standard	NM_018433		Approved	TSGA, KIAA0742, JHMD2A	uc010ytj.2	Q9Y4C1	OTTHUMG00000130204	ENST00000409556.1:c.3851C>T	2.37:g.86718364C>T	ENSP00000386660:p.Ser1284Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	D6W5M3|Q53S72|Q68D47|Q68UT9|Q6N050|Q8IY08	Missense_Mutation	SNP	pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom	p.S1284L	ENST00000409556.1	37	c.3851	CCDS1990.1	2	.	.	.	.	.	.	.	.	.	.	C	25.0	4.597157	0.87055	.	.	ENSG00000115548	ENST00000409556;ENST00000540058;ENST00000312912;ENST00000409064;ENST00000542128	T;T;T;T	0.69926	-0.44;-0.44;-0.44;-0.44	4.47	4.47	0.54385	.	0.102112	0.42821	D	0.000649	T	0.80008	0.4545	M	0.73962	2.25	0.80722	D	1	D;D	0.58268	0.981;0.982	P;P	0.62014	0.897;0.792	T	0.83084	-0.0136	10	0.72032	D	0.01	.	17.0111	0.86406	0.0:1.0:0.0:0.0	.	1232;1284	F5H070;Q9Y4C1	.;KDM3A_HUMAN	L	1284;1284;1284;1284;1232	ENSP00000386660:S1284L;ENSP00000323659:S1284L;ENSP00000386516:S1284L;ENSP00000438324:S1232L	ENSP00000323659:S1284L	S	+	2	0	KDM3A	86571875	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	7.818000	0.86416	2.427000	0.82271	0.655000	0.94253	TCA	KDM3A	-	NULL		0.403	KDM3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KDM3A	HGNC	protein_coding	OTTHUMT00000252522.2	C	NM_018433		86718364	+1	no_errors	ENST00000312912	ensembl	human	known	70_37	missense	SNP	1.000	T
KDM6A	7403	genome.wustl.edu	37	X	44922854	44922854	+	Missense_Mutation	SNP	T	T	G			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chrX:44922854T>G	ENST00000377967.4	+	16	1756	c.1715T>G	c.(1714-1716)tTt>tGt	p.F572C	KDM6A_ENST00000536777.1_Missense_Mutation_p.F527C|KDM6A_ENST00000382899.4_Missense_Mutation_p.F579C|KDM6A_ENST00000543216.1_Missense_Mutation_p.F493C	NM_021140.2	NP_066963.2	O15550	KDM6A_HUMAN	lysine (K)-specific demethylase 6A	572	Interaction with SUPT6H. {ECO:0000250}.				canonical Wnt signaling pathway (GO:0060070)|heart morphogenesis (GO:0003007)|histone H3-K4 methylation (GO:0051568)|in utero embryonic development (GO:0001701)|mesodermal cell differentiation (GO:0048333)|multicellular organism growth (GO:0035264)|neural tube closure (GO:0001843)|notochord morphogenesis (GO:0048570)|regulation of gene expression (GO:0010468)|respiratory system process (GO:0003016)|somite rostral/caudal axis specification (GO:0032525)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|histone demethylase activity (H3-K27 specific) (GO:0071558)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)	p.0?(6)|p.0(2)		NS(1)|breast(7)|central_nervous_system(27)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(24)|kidney(24)|large_intestine(9)|liver(1)|lung(21)|oesophagus(11)|pancreas(2)|prostate(5)|skin(1)|soft_tissue(1)|urinary_tract(29)	170						AATGGACCCTTTTCTGCAGGC	0.527			"""D, N, F, S"""		"""renal, oesophageal SCC, MM"""																																Colon(129;1273 1667 15230 27352 52914)			Rec	yes		X	Xp11.2	7403	"""lysine (K)-specific demethylase 6A, UTX"""		"""E, L"""	8	Whole gene deletion(6)|No detectable mRNA/protein(2)	haematopoietic_and_lymphoid_tissue(2)|oesophagus(2)|breast(2)|pancreas(2)											102.0	67.0	79.0					X																	44922854		2203	4300	6503	SO:0001583	missense	7403			AF000992	CCDS14265.1	Xp11.2	2014-09-17	2009-04-17	2009-04-17	ENSG00000147050	ENSG00000147050		"""Chromatin-modifying enzymes / K-demethylases"", ""Tetratricopeptide (TTC) repeat domain containing"""	12637	protein-coding gene	gene with protein product		300128	"""ubiquitously transcribed tetratricopeptide repeat, X chromosome"""	UTX		9499428, 9381176	Standard	XM_005272655		Approved		uc004dge.4	O15550	OTTHUMG00000021402	ENST00000377967.4:c.1715T>G	X.37:g.44922854T>G	ENSP00000367203:p.Phe572Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q52LL9|Q5JVQ7	Missense_Mutation	SNP	pfam_JmjC_dom,pfam_TPR-1,smart_TPR_repeat,smart_JmjC_dom,pfscan_JmjC_dom,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.F579C	ENST00000377967.4	37	c.1736	CCDS14265.1	X	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	13.71|13.71	2.319244|2.319244	0.41096|0.41096	.|.	.|.	ENSG00000147050|ENSG00000147050	ENST00000334516;ENST00000377967;ENST00000536777;ENST00000382899;ENST00000543216;ENST00000535688|ENST00000451692	T;T;T;T|T	0.18960|0.36878	2.18;2.18;2.19;2.24|1.23	5.18|5.18	5.18|5.18	0.71444|0.71444	.|.	0.293564|0.293564	0.38897|0.38897	N|N	0.001532|0.001532	T|T	0.47078|0.47078	0.1426|0.1426	L|L	0.51422|0.51422	1.61|1.61	0.42354|0.42354	D|D	0.992384|0.992384	B;D;B;B;B;B|.	0.76494|.	0.001;0.999;0.007;0.002;0.001;0.004|.	B;D;B;B;B;B|.	0.80764|.	0.001;0.994;0.007;0.008;0.001;0.008|.	T|T	0.47071|0.47071	-0.9145|-0.9145	10|8	0.72032|0.56958	D|D	0.01|0.05	-13.1718|-13.1718	14.2789|14.2789	0.66199|0.66199	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	211;579;527;624;538;572|.	B4E0L8;F8W8R6;F5H6S1;B7ZKN5;B4E253;O15550|.	.;.;.;.;.;KDM6A_HUMAN|.	C|V	269;572;527;579;493;165|202	ENSP00000367203:F572C;ENSP00000437405:F527C;ENSP00000372355:F579C;ENSP00000443078:F493C|ENSP00000399980:F202V	ENSP00000334340:F269C|ENSP00000399980:F202V	F|F	+|+	2|1	0|0	KDM6A|KDM6A	44807798|44807798	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.977000|0.977000	0.68977|0.68977	4.736000|4.736000	0.62059|0.62059	1.819000|1.819000	0.53055|0.53055	0.417000|0.417000	0.27973|0.27973	TTT|TTT	KDM6A	-	NULL		0.527	KDM6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KDM6A	HGNC	protein_coding	OTTHUMT00000056324.1	T	NM_021140		44922854	+1	no_errors	ENST00000382899	ensembl	human	known	70_37	missense	SNP	1.000	G
KDM5C	8242	genome.wustl.edu	37	X	53222364	53222364	+	Missense_Mutation	SNP	C	C	T			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chrX:53222364C>T	ENST00000375401.3	-	26	5000	c.4468G>A	c.(4468-4470)Gag>Aag	p.E1490K	KDM5C_ENST00000404049.3_Missense_Mutation_p.E1489K|KDM5C_ENST00000375383.3_Missense_Mutation_p.E1446K|KDM5C_ENST00000375379.3_Missense_Mutation_p.E1487K|KDM5C_ENST00000452825.3_Intron	NM_001282622.1|NM_004187.3	NP_001269551.1|NP_004178.2	P41229	KDM5C_HUMAN	lysine (K)-specific demethylase 5C	1490					histone H3-K4 demethylation (GO:0034720)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone demethylase activity (H3-K4 specific) (GO:0032453)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|zinc ion binding (GO:0008270)	p.E1490*(1)		autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(30)|large_intestine(9)|lung(17)|oesophagus(1)|ovary(6)|prostate(1)|salivary_gland(1)|skin(1)|upper_aerodigestive_tract(2)	82						TGGACCTCCTCAGCCTCTGGC	0.692			"""N, F, S"""		clear cell renal carcinoma																																			Rec	yes		X	Xp11.22-p11.21	8242	lysine (K)-specific demethylase 5C (JARID1C)		E	1	Substitution - Nonsense(1)	skin(1)											65.0	40.0	48.0					X																	53222364		2203	4300	6503	SO:0001583	missense	8242			Z29650	CCDS14351.1, CCDS55417.1, CCDS65269.1	Xp11.22-p11.21	2014-01-31	2009-04-06	2009-04-06	ENSG00000126012	ENSG00000126012		"""Chromatin-modifying enzymes / K-demethylases"", ""Zinc fingers, PHD-type"""	11114	protein-coding gene	gene with protein product		314690	"""Jumonji, AT rich interactive domain 1C (RBP2-like)"", ""Smcy homolog, X-linked (mouse)"", ""jumonji, AT rich interactive domain 1C"", ""mental retardation, X-linked 13"""	SMCX, JARID1C, MRX13		7951230, 8162017, 19826449	Standard	NM_004187		Approved	DXS1272E, XE169	uc004drz.3	P41229	OTTHUMG00000021606	ENST00000375401.3:c.4468G>A	X.37:g.53222364C>T	ENSP00000364550:p.Glu1490Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	B0QZ44|B4E3I2|F5H3T1|Q5JUX3|Q5JUX4|Q5JUX5|Q7Z5S5	Missense_Mutation	SNP	pfam_Lys_sp_deMease_like_dom,pfam_JmjC_dom,pfam_ARID/BRIGHT_DNA-bd,pfam_Znf_C5HC2,pfam_Znf_PHD-finger,pfam_TF_JmjN,superfamily_ARID/BRIGHT_DNA-bd,superfamily_Znf_FYVE_PHD,smart_TF_JmjN,smart_ARID/BRIGHT_DNA-bd,smart_Znf_PHD,smart_JmjC_dom,pfscan_TF_JmjN,pfscan_JmjC_dom,pfscan_Znf_PHD-finger,pfscan_ARID/BRIGHT_DNA-bd	p.E1490K	ENST00000375401.3	37	c.4468	CCDS14351.1	X	.	.	.	.	.	.	.	.	.	.	c	9.302	1.053388	0.19907	.	.	ENSG00000126012	ENST00000375401;ENST00000404049;ENST00000375379;ENST00000375383	D;D;D;D	0.84370	-1.7;-1.7;-1.7;-1.84	3.88	3.01	0.34805	.	0.303410	0.21015	N	0.081609	T	0.70150	0.3191	N	0.25647	0.755	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.58329	-0.7655	10	0.02654	T	1	-9.0794	8.4432	0.32826	0.0:0.8792:0.0:0.1208	.	1489;1490	B0QZ44;P41229	.;KDM5C_HUMAN	K	1490;1489;1487;1446	ENSP00000364550:E1490K;ENSP00000385394:E1489K;ENSP00000364528:E1487K;ENSP00000364532:E1446K	ENSP00000364528:E1487K	E	-	1	0	KDM5C	53239089	0.994000	0.37717	0.986000	0.45419	0.953000	0.61014	1.677000	0.37576	0.692000	0.31613	0.407000	0.27541	GAG	KDM5C	-	NULL		0.692	KDM5C-005	KNOWN	basic|CCDS	protein_coding	KDM5C	HGNC	protein_coding	OTTHUMT00000056737.2	C	NM_004187		53222364	-1	no_errors	ENST00000375401	ensembl	human	known	70_37	missense	SNP	0.990	T
KDR	3791	genome.wustl.edu	37	4	55964327	55964327	+	Missense_Mutation	SNP	A	A	T			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr4:55964327A>T	ENST00000263923.4	-	17	2781	c.2486T>A	c.(2485-2487)tTc>tAc	p.F829Y		NM_002253.2	NP_002244.1	P35968	VGFR2_HUMAN	kinase insert domain receptor (a type III receptor tyrosine kinase)	829					angiogenesis (GO:0001525)|branching morphogenesis of an epithelial tube (GO:0048754)|calcium ion homeostasis (GO:0055074)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|cell fate commitment (GO:0045165)|cell maturation (GO:0048469)|cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|embryonic hemopoiesis (GO:0035162)|endothelial cell differentiation (GO:0045446)|endothelium development (GO:0003158)|extracellular matrix organization (GO:0030198)|lung alveolus development (GO:0048286)|lymph vessel development (GO:0001945)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|ovarian follicle development (GO:0001541)|peptidyl-tyrosine autophosphorylation (GO:0038083)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of vasculogenesis (GO:2001214)|protein autophosphorylation (GO:0046777)|regulation of cell shape (GO:0008360)|signal transduction by phosphorylation (GO:0023014)|surfactant homeostasis (GO:0043129)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|vascular endothelial growth factor signaling pathway (GO:0038084)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sorting endosome (GO:0097443)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|Hsp90 protein binding (GO:0051879)|integrin binding (GO:0005178)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor binding (GO:0038085)|vascular endothelial growth factor-activated receptor activity (GO:0005021)			NS(1)|breast(3)|central_nervous_system(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(16)|lung(71)|ovary(2)|prostate(2)|skin(10)|soft_tissue(4)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	135	all_cancers(7;0.0255)|all_lung(4;0.00175)|Lung NSC(11;0.00384)|all_epithelial(27;0.034)|Glioma(25;0.08)|all_neural(26;0.101)		Epithelial(7;0.189)		Axitinib(DB06626)|Cabozantinib(DB08875)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	GTCTCTGGGGAATTCCCATTT	0.433			Mis		"""NSCLC, angiosarcoma"""					TSP Lung(20;0.16)																														Dom	yes		4	4q11-q12	3791	vascular endothelial growth factor receptor 2		E	0													114.0	111.0	112.0					4																	55964327		2203	4300	6503	SO:0001583	missense	3791			AF035121	CCDS3497.1	4q11-q12	2013-01-29			ENSG00000128052	ENSG00000128052	2.7.10.1	"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6307	protein-coding gene	gene with protein product		191306				1417831	Standard	NM_002253		Approved	FLK1, VEGFR, VEGFR2, CD309	uc003has.3	P35968	OTTHUMG00000128734	ENST00000263923.4:c.2486T>A	4.37:g.55964327A>T	ENSP00000263923:p.Phe829Tyr	Somatic		WXS	Illumina HiSeq	Phase_IV	A2RRS0|B5A925|C5IFA0|O60723|Q14178	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ig_I-set,pfam_Prot_kinase_cat_dom,pfam_Ig_V-set,pfam_Immunoglobulin,pfam_CD80_C2-set,superfamily_Kinase-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,prints_Tyr_kinase_VEGFR2_rcpt,prints_Tyr_kinase_VEGFR_rcpt_N	p.F829Y	ENST00000263923.4	37	c.2486	CCDS3497.1	4	.	.	.	.	.	.	.	.	.	.	A	26.2	4.719372	0.89205	.	.	ENSG00000128052	ENST00000263923	D	0.89196	-2.48	5.86	5.86	0.93980	Protein kinase-like domain (1);	0.000000	0.85682	D	0.000000	D	0.94172	0.8130	M	0.76170	2.325	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.94637	0.7827	10	0.72032	D	0.01	.	16.2366	0.82380	1.0:0.0:0.0:0.0	.	829	P35968	VGFR2_HUMAN	Y	829	ENSP00000263923:F829Y	ENSP00000263923:F829Y	F	-	2	0	KDR	55659084	1.000000	0.71417	0.968000	0.41197	0.755000	0.42902	9.339000	0.96797	2.237000	0.73441	0.533000	0.62120	TTC	KDR	-	superfamily_Kinase-like_dom		0.433	KDR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KDR	HGNC	protein_coding	OTTHUMT00000250645.1	A			55964327	-1	no_errors	ENST00000263923	ensembl	human	known	70_37	missense	SNP	1.000	T
KIAA0100	9703	genome.wustl.edu	37	17	26943196	26943196	+	Missense_Mutation	SNP	T	T	C			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr17:26943196T>C	ENST00000528896.2	-	37	6382	c.6308A>G	c.(6307-6309)gAc>gGc	p.D2103G	KIAA0100_ENST00000544884.1_Missense_Mutation_p.D1960G|SPAG5-AS1_ENST00000424210.1_RNA|KIAA0100_ENST00000389003.3_Missense_Mutation_p.D1960G|SPAG5-AS1_ENST00000414744.1_RNA|RP11-192H23.4_ENST00000577790.1_5'Flank|SPAG5-AS1_ENST00000554154.1_RNA|RP11-192H23.4_ENST00000534850.1_5'Flank|KIAA0100_ENST00000579924.2_5'Flank|SGK494_ENST00000301037.5_5'Flank|SGK494_ENST00000469832.3_5'Flank	NM_014680.3	NP_055495.2	Q14667	K0100_HUMAN	KIAA0100	2103						extracellular region (GO:0005576)				breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|lung(23)|ovary(2)|prostate(2)|skin(6)|stomach(2)|urinary_tract(3)	68	Lung NSC(42;0.00431)					TTTCATCTTGTCAATGTCATC	0.473																																																	0													74.0	60.0	65.0					17																	26943196		2203	4300	6503	SO:0001583	missense	9703			D43947	CCDS32595.1	17q11.2	2012-11-29			ENSG00000007202	ENSG00000007202			28960	protein-coding gene	gene with protein product	"""cancer/testis antigen 101"", ""breast cancer overexpressed gene 1"""	610664				16289875	Standard	NM_014680		Approved	DKFZp686M0843, MGC111488, BCOX1, CT101, BCOX	uc002hbu.3	Q14667	OTTHUMG00000166587	ENST00000528896.2:c.6308A>G	17.37:g.26943196T>C	ENSP00000436773:p.Asp2103Gly	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NCX3|Q3SYN5|Q49A07|Q5H9T4|Q6WG74|Q6ZP51|Q96HH8	Missense_Mutation	SNP	pfam_FMP27_C,pfam_FMP27_N,pfam_FMP27_GFWDK_dom	p.D2103G	ENST00000528896.2	37	c.6308	CCDS32595.1	17	.	.	.	.	.	.	.	.	.	.	T	20.4	3.982664	0.74474	.	.	ENSG00000007202	ENST00000005905;ENST00000389003;ENST00000528896;ENST00000544884	T;T	0.46063	0.88;0.88	5.9	5.9	0.94986	FMP27,  C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.62877	0.2464	M	0.63843	1.955	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.63189	-0.6693	10	0.51188	T	0.08	.	16.3283	0.82996	0.0:0.0:0.0:1.0	.	2103	Q14667	K0100_HUMAN	G	2103;2073;2103;1960	ENSP00000436773:D2103G;ENSP00000446443:D1960G	ENSP00000005905:D2103G	D	-	2	0	KIAA0100	23967323	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.658000	0.83755	2.257000	0.74773	0.533000	0.62120	GAC	KIAA0100	-	pfam_FMP27_C		0.473	KIAA0100-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA0100	HGNC	protein_coding	OTTHUMT00000390571.3	T	NM_014680		26943196	-1	no_errors	ENST00000005905	ensembl	human	known	70_37	missense	SNP	1.000	C
KIAA0226L	80183	genome.wustl.edu	37	13	46936679	46936679	+	Missense_Mutation	SNP	G	G	C			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr13:46936679G>C	ENST00000429979.1	-	7	1584	c.980C>G	c.(979-981)tCt>tGt	p.S327C	KIAA0226L_ENST00000378787.3_Missense_Mutation_p.S327C|KIAA0226L_ENST00000322896.6_Missense_Mutation_p.S170C|KIAA0226L_ENST00000378784.4_Missense_Mutation_p.S260C|KIAA0226L_ENST00000378797.2_Missense_Mutation_p.S327C|KIAA0226L_ENST00000378781.3_Intron|KIAA0226L_ENST00000409879.2_Missense_Mutation_p.S170C|KIAA0226L_ENST00000389908.3_Missense_Mutation_p.S327C|KIAA0226L_ENST00000534925.1_Missense_Mutation_p.S192C	NM_025113.2	NP_079389.2	Q9H714	K226L_HUMAN	KIAA0226-like	327										NS(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(7)|pancreas(1)	26						ATACCTCTTAGAGGAGCTGCA	0.463																																																	0													79.0	75.0	77.0					13																	46936679		2203	4300	6503	SO:0001583	missense	80183			AK025215	CCDS31970.2, CCDS66543.1, CCDS66544.1, CCDS66545.1, CCDS73569.1	13q14.11	2011-08-09	2011-08-09	2011-08-09	ENSG00000102445	ENSG00000102445			20420	protein-coding gene	gene with protein product			"""chromosome 13 open reading frame 18"""	C13orf18			Standard	NM_001286766		Approved	FLJ21562	uc010acl.3	Q9H714	OTTHUMG00000016868	ENST00000429979.1:c.980C>G	13.37:g.46936679G>C	ENSP00000396935:p.Ser327Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	A8KAG9|A8XR19|B3KS87|Q5W051|Q5W053|Q6PJ74|Q6PK94|Q86XH7|Q8N5J6	Missense_Mutation	SNP	NULL	p.S327C	ENST00000429979.1	37	c.980	CCDS31970.2	13	.	.	.	.	.	.	.	.	.	.	G	12.23	1.874781	0.33069	.	.	ENSG00000102445	ENST00000429979;ENST00000378797;ENST00000378784;ENST00000389908;ENST00000378787;ENST00000409879;ENST00000322896;ENST00000534925	T;T;T;T;T;T	0.48836	0.82;0.8;0.84;0.82;0.8;0.86	5.39	3.55	0.40652	.	0.634569	0.15396	N	0.264543	T	0.56470	0.1987	L	0.59436	1.845	0.09310	N	0.999996	D;D;D;D;D;D	0.76494	0.985;0.985;0.993;0.973;0.992;0.999	B;B;P;B;P;P	0.60236	0.43;0.43;0.628;0.43;0.794;0.871	T	0.44711	-0.9310	10	0.62326	D	0.03	-1.1927	7.796	0.29148	0.0:0.1752:0.6434:0.1814	.	170;170;327;192;260;327	B7ZBN5;B7Z6E4;Q9H714;A8KAG9;Q9H714-3;Q9H714-4	.;.;K226L_HUMAN;.;.;.	C	327;327;260;327;327;170;170;192	ENSP00000396935:S327C;ENSP00000368074:S327C;ENSP00000368061:S260C;ENSP00000374558:S327C;ENSP00000368064:S327C;ENSP00000437501:S192C	ENSP00000315633:S170C	S	-	2	0	KIAA0226L	45834680	0.000000	0.05858	0.142000	0.22268	0.407000	0.30961	0.348000	0.20031	2.682000	0.91365	0.551000	0.68910	TCT	KIAA0226L	-	NULL		0.463	KIAA0226L-204	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA0226L	HGNC	protein_coding	OTTHUMT00000044809.2	G	NM_025113		46936679	-1	no_errors	ENST00000389908	ensembl	human	known	70_37	missense	SNP	0.033	C
KIAA0754	643314	genome.wustl.edu	37	1	39879469	39879470	+	Frame_Shift_Ins	INS	-	-	C			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr1:39879469_39879470insC	ENST00000530275.1	+	1	3319_3320	c.3124_3125insC	c.(3124-3126)accfs	p.T1042fs	MACF1_ENST00000564288.1_Intron|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000289893.4_Intron|MACF1_ENST00000567887.1_Intron|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000361689.2_Intron|MACF1_ENST00000372915.3_Intron	NM_015038.1	NP_055853.1	O94854	K0754_HUMAN	KIAA0754	1042	Ala-rich.									central_nervous_system(1)|large_intestine(6)|skin(1)	8	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			TGCAGTGCCCACCCCAGCAGAA	0.663																																																	0																																										SO:0001589	frameshift_variant	643314					1p34.2	2009-07-09				ENSG00000255103			29111	protein-coding gene	gene with protein product						9872452	Standard	NM_015038		Approved		uc009vvt.1	O94854		ENST00000530275.1:c.3128dupC	1.37:g.39879473_39879473dupC	ENSP00000431179:p.Thr1042fs	Somatic		WXS	Illumina HiSeq	Phase_IV	E9PMC2|Q6ZSB2	Frame_Shift_Ins	INS	NULL	p.A1044fs	ENST00000530275.1	37	c.3124_3125		1																																																																																			KIAA0754	-	NULL		0.663	KIAA0754-001	KNOWN	basic|appris_principal	protein_coding	KIAA0754	HGNC	protein_coding	OTTHUMT00000392100.1	-	NM_015038		39879470	+1	no_errors	ENST00000530275	ensembl	human	known	70_37	frame_shift_ins	INS	0.000:0.000	C
KIAA1244	57221	genome.wustl.edu	37	6	138656032	138656032	+	Missense_Mutation	SNP	G	G	A			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr6:138656032G>A	ENST00000251691.4	+	33	6215	c.6049G>A	c.(6049-6051)Gca>Aca	p.A2017T		NM_020340.4	NP_065073.3			KIAA1244											NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(11)|lung(17)|ovary(2)|skin(2)	44	Breast(32;0.135)			OV - Ovarian serous cystadenocarcinoma(155;0.00102)|GBM - Glioblastoma multiforme(68;0.00259)		CTACACCATGGCAGCCGACAA	0.532																																																	0													71.0	62.0	65.0					6																	138656032		2203	4297	6500	SO:0001583	missense	57221			AB033070	CCDS5189.2	6q23.3	2012-04-17			ENSG00000112379	ENSG00000112379		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	21213	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 33"""		"""chromosome 6 open reading frame 92"""	C6orf92			Standard	NM_020340		Approved	dJ171N11.1, BIG3, PPP1R33	uc003qhu.3	Q5TH69	OTTHUMG00000015670	ENST00000251691.4:c.6049G>A	6.37:g.138656032G>A	ENSP00000251691:p.Ala2017Thr	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_DUF1981_SEC7_assoc,superfamily_ARM-type_fold,superfamily_Sec7,smart_Sec7	p.A2017T	ENST00000251691.4	37	c.6049	CCDS5189.2	6	.	.	.	.	.	.	.	.	.	.	G	16.83	3.230699	0.58777	.	.	ENSG00000112379	ENST00000251691	T	0.27402	1.67	5.69	5.69	0.88448	.	0.277705	0.37261	N	0.002179	T	0.12518	0.0304	N	0.19112	0.55	0.49213	D	0.999769	B	0.32653	0.379	B	0.23716	0.048	T	0.03795	-1.1003	10	0.44086	T	0.13	-13.5847	19.8275	0.96624	0.0:0.0:1.0:0.0	.	2017	Q5TH69	BIG3_HUMAN	T	2017	ENSP00000251691:A2017T	ENSP00000251691:A2017T	A	+	1	0	KIAA1244	138697725	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	7.348000	0.79366	2.678000	0.91216	0.609000	0.83330	GCA	KIAA1244	-	NULL		0.532	KIAA1244-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	KIAA1244	HGNC	protein_coding	OTTHUMT00000042425.4	G	NM_020340		138656032	+1	no_errors	ENST00000251691	ensembl	human	known	70_37	missense	SNP	1.000	A
KIAA1407	57577	genome.wustl.edu	37	3	113761569	113761569	+	Missense_Mutation	SNP	C	C	G			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr3:113761569C>G	ENST00000295878.3	-	4	542	c.396G>C	c.(394-396)ttG>ttC	p.L132F	KIAA1407_ENST00000480588.1_5'Flank|KIAA1407_ENST00000545063.1_5'UTR	NM_020817.1	NP_065868.1	Q8NCU4	K1407_HUMAN	KIAA1407	132										endometrium(9)|large_intestine(7)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1)	40						TGTCATATTTCAAATGGCCAT	0.338																																																	0													124.0	108.0	113.0					3																	113761569		2203	4300	6503	SO:0001583	missense	57577			AF509494	CCDS2977.1	3q13.31	2005-01-10			ENSG00000163617	ENSG00000163617			29272	protein-coding gene	gene with protein product						10718198	Standard	NM_020817		Approved		uc003eax.3	Q8NCU4	OTTHUMG00000159337	ENST00000295878.3:c.396G>C	3.37:g.113761569C>G	ENSP00000295878:p.Leu132Phe	Somatic		WXS	Illumina HiSeq	Phase_IV	B4DYL1|Q9P2E0	Missense_Mutation	SNP	NULL	p.L132F	ENST00000295878.3	37	c.396	CCDS2977.1	3	.	.	.	.	.	.	.	.	.	.	C	16.73	3.205426	0.58234	.	.	ENSG00000163617	ENST00000295878;ENST00000491000;ENST00000483766	T;T	0.49432	1.36;0.78	4.56	3.69	0.42338	.	0.980022	0.08349	N	0.959488	T	0.49695	0.1572	M	0.66939	2.045	0.58432	D	0.999997	P;P;P	0.45078	0.85;0.85;0.688	B;B;B	0.43575	0.424;0.325;0.246	T	0.44467	-0.9326	10	0.41790	T	0.15	.	8.4858	0.33071	0.0:0.7625:0.154:0.0835	.	119;8;132	C9JA89;B4DIZ9;Q8NCU4	.;.;K1407_HUMAN	F	132;119;96	ENSP00000295878:L132F;ENSP00000418099:L119F	ENSP00000295878:L132F	L	-	3	2	KIAA1407	115244259	0.558000	0.26554	0.512000	0.27736	0.806000	0.45545	0.847000	0.27696	1.280000	0.44463	0.591000	0.81541	TTG	KIAA1407	-	NULL		0.338	KIAA1407-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1407	HGNC	protein_coding	OTTHUMT00000354724.2	C	NM_020817		113761569	-1	no_errors	ENST00000295878	ensembl	human	known	70_37	missense	SNP	0.719	G
KIAA1429	25962	genome.wustl.edu	37	8	95508692	95508692	+	Missense_Mutation	SNP	T	T	A	rs368083067		TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr8:95508692T>A	ENST00000297591.5	-	18	4322	c.4247A>T	c.(4246-4248)gAt>gTt	p.D1416V	KIAA1429_ENST00000437199.1_Missense_Mutation_p.I1372L	NM_015496.4	NP_056311.2	Q69YN4	VIR_HUMAN	KIAA1429	1416					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(5)|large_intestine(16)|lung(28)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	66	Breast(36;3.29e-05)		BRCA - Breast invasive adenocarcinoma(8;0.00185)			GAGACCATTATCATCTCCACA	0.373																																																	0													169.0	145.0	153.0					8																	95508692		2203	4300	6503	SO:0001583	missense	25962			AB037850	CCDS34923.1, CCDS47894.1	8q22.1	2008-11-25			ENSG00000164944	ENSG00000164944			24500	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 121"""					10718198	Standard	NM_015496		Approved	DKFZP434I116, fSAP121	uc003ygo.2	Q69YN4	OTTHUMG00000164426	ENST00000297591.5:c.4247A>T	8.37:g.95508692T>A	ENSP00000297591:p.Asp1416Val	Somatic		WXS	Illumina HiSeq	Phase_IV	Q2M1N0|Q6AHX9|Q6NT78|Q7Z6C7|Q8IXH4|Q9BTH4|Q9H9C9|Q9NWR3|Q9P2B8|Q9UFW1	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.D1416V	ENST00000297591.5	37	c.4247	CCDS34923.1	8	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	20.5|20.5	4.002165|4.002165	0.74932|0.74932	.|.	.|.	ENSG00000164944|ENSG00000164944	ENST00000297591|ENST00000437199	T|T	0.48201|0.40756	0.82|1.02	5.52|5.52	5.52|5.52	0.82312|0.82312	.|.	0.345630|.	0.32884|.	N|.	0.005528|.	T|T	0.46367|0.46367	0.1389|0.1389	L|L	0.36672|0.36672	1.1|1.1	0.25632|0.25632	N|N	0.986296|0.986296	D|.	0.55385|.	0.971|.	P|.	0.52343|.	0.696|.	T|T	0.46693|0.46693	-0.9173|-0.9173	10|7	0.72032|0.87932	D|D	0.01|0	-7.0075|-7.0075	15.6419|15.6419	0.77012|0.77012	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	1416|.	Q69YN4|.	VIR_HUMAN|.	V|L	1416|1372	ENSP00000297591:D1416V|ENSP00000395600:I1372L	ENSP00000297591:D1416V|ENSP00000395600:I1372L	D|I	-|-	2|1	0|0	KIAA1429|KIAA1429	95577868|95577868	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	5.505000|5.505000	0.66981|0.66981	2.104000|2.104000	0.64026|0.64026	0.528000|0.528000	0.53228|0.53228	GAT|ATA	KIAA1429	-	NULL		0.373	KIAA1429-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1429	HGNC	protein_coding	OTTHUMT00000378720.2	T	NM_015496		95508692	-1	no_errors	ENST00000297591	ensembl	human	known	70_37	missense	SNP	1.000	A
KIAA1551	55196	genome.wustl.edu	37	12	32140196	32140196	+	Nonsense_Mutation	SNP	G	G	T			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr12:32140196G>T	ENST00000312561.4	+	5	5440	c.5026G>T	c.(5026-5028)Gaa>Taa	p.E1676*	KIAA1551_ENST00000535596.1_3'UTR	NM_018169.3	NP_060639	Q9HCM1	K1551_HUMAN	KIAA1551	1676																	AAGTACAAAAGAAGACTGGTT	0.303																																																	0													58.0	60.0	60.0					12																	32140196		2203	4297	6500	SO:0001587	stop_gained	55196			AK001514	CCDS8725.2	12p11.21	2012-08-14	2012-08-14	2012-08-14	ENSG00000174718	ENSG00000174718			25559	protein-coding gene	gene with protein product			"""chromosome 12 open reading frame 35"""	C12orf35		10997877	Standard	NM_018169		Approved	FLJ20696, FLJ10652	uc001rks.3	Q9HCM1	OTTHUMG00000128501	ENST00000312561.4:c.5026G>T	12.37:g.32140196G>T	ENSP00000310338:p.Glu1676*	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RTU5|Q4KN17|Q9NVL6|Q9NWP9	Nonsense_Mutation	SNP	NULL	p.E1676*	ENST00000312561.4	37	c.5026	CCDS8725.2	12	.	.	.	.	.	.	.	.	.	.	G	49	14.960016	0.99817	.	.	ENSG00000174718	ENST00000312561	.	.	.	4.86	3.97	0.46021	.	0.096474	0.45606	D	0.000360	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	11.5372	0.50645	0.0841:0.0:0.9159:0.0	.	.	.	.	X	1676	.	ENSP00000310338:E1676X	E	+	1	0	C12orf35	32031463	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	2.788000	0.47806	1.156000	0.42514	0.462000	0.41574	GAA	KIAA1551	-	NULL		0.303	KIAA1551-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1551	HGNC	protein_coding	OTTHUMT00000250307.2	G	NM_018169		32140196	+1	no_errors	ENST00000312561	ensembl	human	known	70_37	nonsense	SNP	1.000	T
KIAA1731	85459	genome.wustl.edu	37	11	93432821	93432821	+	Missense_Mutation	SNP	G	G	C			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr11:93432821G>C	ENST00000325212.6	+	15	4905	c.4743G>C	c.(4741-4743)gaG>gaC	p.E1581D	KIAA1731_ENST00000411936.1_Missense_Mutation_p.E1581D|KIAA1731_ENST00000344196.4_5'UTR|KIAA1731_ENST00000531700.1_Intron			Q9C0D2	K1731_HUMAN	KIAA1731	1581						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)				GTCATCGTGAGATTCCAAGAT	0.418																																																	0													39.0	33.0	35.0					11																	93432821		692	1591	2283	SO:0001583	missense	85459			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.4743G>C	11.37:g.93432821G>C	ENSP00000316681:p.Glu1581Asp	Somatic		WXS	Illumina HiSeq	Phase_IV	C9J5H9|C9JQY8|Q8N7L4|Q8N919|Q8N9B0|Q96LT8	Missense_Mutation	SNP	NULL	p.E1581D	ENST00000325212.6	37	c.4743	CCDS44708.1	11	.	.	.	.	.	.	.	.	.	.	G	10.69	1.421364	0.25639	.	.	ENSG00000166004	ENST00000325212;ENST00000411936	T;T	0.24908	1.83;1.83	4.63	-1.11	0.09840	.	0.299368	0.24096	N	0.041589	T	0.28300	0.0699	M	0.64170	1.965	0.09310	N	0.999999	P	0.50819	0.939	P	0.48627	0.584	T	0.16778	-1.0391	10	0.87932	D	0	-5.4232	7.5433	0.27751	0.6042:0.0:0.3958:0.0	.	1581	Q9C0D2	K1731_HUMAN	D	1581	ENSP00000316681:E1581D;ENSP00000406505:E1581D	ENSP00000316681:E1581D	E	+	3	2	KIAA1731	93072469	0.000000	0.05858	0.001000	0.08648	0.023000	0.10783	-0.270000	0.08584	-0.079000	0.12707	0.467000	0.42956	GAG	KIAA1731	-	NULL		0.418	KIAA1731-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	KIAA1731	HGNC	protein_coding	OTTHUMT00000394640.1	G	NM_033395		93432821	+1	no_errors	ENST00000411936	ensembl	human	known	70_37	missense	SNP	0.000	C
KIAA1731	85459	genome.wustl.edu	37	11	93433163	93433163	+	Silent	SNP	G	G	A			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr11:93433163G>A	ENST00000325212.6	+	15	5247	c.5085G>A	c.(5083-5085)ttG>ttA	p.L1695L	KIAA1731_ENST00000411936.1_Silent_p.L1695L|KIAA1731_ENST00000344196.4_5'UTR|KIAA1731_ENST00000531700.1_Intron			Q9C0D2	K1731_HUMAN	KIAA1731	1695						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)				ATAGACTTTTGAGTTTTTCAC	0.418																																																	0													93.0	84.0	87.0					11																	93433163		692	1591	2283	SO:0001819	synonymous_variant	85459			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.5085G>A	11.37:g.93433163G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	C9J5H9|C9JQY8|Q8N7L4|Q8N919|Q8N9B0|Q96LT8	Silent	SNP	NULL	p.L1695	ENST00000325212.6	37	c.5085	CCDS44708.1	11																																																																																			KIAA1731	-	NULL		0.418	KIAA1731-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	KIAA1731	HGNC	protein_coding	OTTHUMT00000394640.1	G	NM_033395		93433163	+1	no_errors	ENST00000411936	ensembl	human	known	70_37	silent	SNP	0.001	A
KIAA1804	84451	genome.wustl.edu	37	1	233489616	233489616	+	Silent	SNP	C	C	T			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr1:233489616C>T	ENST00000366624.3	+	3	1311	c.1050C>T	c.(1048-1050)ctC>ctT	p.L350L	MLK4_ENST00000366623.3_Silent_p.L350L	NM_032435.2	NP_115811.2																					TTGATGGCCTCGCCGTGGCTT	0.512																																																	0													118.0	107.0	111.0					1																	233489616		2203	4300	6503	SO:0001819	synonymous_variant	84451																														ENST00000366624.3:c.1050C>T	1.37:g.233489616C>T		Somatic		WXS	Illumina HiSeq	Phase_IV		Silent	SNP	pirsf_MAPKKK9/10/11,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_SH3_domain,pfam_SH3_2,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH3_domain,pfscan_SH3_domain,pfscan_Prot_kinase_cat_dom	p.L350	ENST00000366624.3	37	c.1050	CCDS1598.1	1																																																																																			MLK4	-	pirsf_MAPKKK9/10/11,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom		0.512	MLK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1804	Uniprot_genename	protein_coding	OTTHUMT00000092495.1	C			233489616	+1	no_errors	ENST00000366624	ensembl	human	known	70_37	silent	SNP	0.025	T
KIAA2018	205717	genome.wustl.edu	37	3	113379988	113379988	+	Missense_Mutation	SNP	C	C	T			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr3:113379988C>T	ENST00000478658.1	-	5	558	c.541G>A	c.(541-543)Gcc>Acc	p.A181T	KIAA2018_ENST00000491165.1_Intron|KIAA2018_ENST00000316407.4_Missense_Mutation_p.A181T			Q68DE3	K2018_HUMAN	KIAA2018	181						membrane (GO:0016020)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|DNA binding (GO:0003677)|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity (GO:0004571)			NS(1)|breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(13)|liver(1)|lung(30)|ovary(8)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	80						ACCACATTGGCGGTCTGCTTT	0.438																																																	0													131.0	130.0	130.0					3																	113379988		1911	4119	6030	SO:0001583	missense	205717			AB095938	CCDS43133.1	3q13.2	2014-01-02			ENSG00000176542	ENSG00000176542			30494	protein-coding gene	gene with protein product							Standard	XM_005247208		Approved		uc003eam.3	Q68DE3	OTTHUMG00000159322	ENST00000478658.1:c.541G>A	3.37:g.113379988C>T	ENSP00000420721:p.Ala181Thr	Somatic		WXS	Illumina HiSeq	Phase_IV	Q7Z3L9|Q8IVF3|Q9H8T4	Missense_Mutation	SNP	pfam_HLH_dom,superfamily_HLH_dom,smart_HLH_dom,pfscan_HLH_dom	p.A181T	ENST00000478658.1	37	c.541	CCDS43133.1	3	.	.	.	.	.	.	.	.	.	.	C	15.44	2.834009	0.50951	.	.	ENSG00000176542	ENST00000316407;ENST00000478658	T;T	0.20738	2.05;2.05	5.95	5.95	0.96441	.	0.069296	0.64402	D	0.000014	T	0.35451	0.0932	L	0.27053	0.805	0.51233	D	0.999912	D	0.76494	0.999	D	0.63793	0.918	T	0.05784	-1.0864	10	0.87932	D	0	-10.7996	20.3854	0.98941	0.0:1.0:0.0:0.0	.	181	Q68DE3	K2018_HUMAN	T	181	ENSP00000320794:A181T;ENSP00000420721:A181T	ENSP00000320794:A181T	A	-	1	0	KIAA2018	114862678	0.995000	0.38212	0.970000	0.41538	0.530000	0.34684	3.444000	0.52914	2.825000	0.97269	0.655000	0.94253	GCC	KIAA2018	-	NULL		0.438	KIAA2018-003	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	KIAA2018	HGNC	protein_coding	OTTHUMT00000354591.1	C	NM_001009899		113379988	-1	no_errors	ENST00000316407	ensembl	human	known	70_37	missense	SNP	0.987	T
KIDINS220	57498	genome.wustl.edu	37	2	8936988	8936988	+	Silent	SNP	C	C	T			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr2:8936988C>T	ENST00000256707.3	-	11	1192	c.1011G>A	c.(1009-1011)acG>acA	p.T337T	KIDINS220_ENST00000418530.1_Silent_p.T295T|KIDINS220_ENST00000319688.5_Silent_p.T338T|KIDINS220_ENST00000427284.1_Silent_p.T337T|KIDINS220_ENST00000473731.1_Silent_p.T337T	NM_020738.2	NP_065789.1	Q9ULH0	KDIS_HUMAN	kinase D-interacting substrate, 220kDa	337					activation of MAPKK activity (GO:0000186)|cellular response to nerve growth factor stimulus (GO:1990090)|cytoplasmic transport (GO:0016482)|dendrite morphogenesis (GO:0048813)|in utero embryonic development (GO:0001701)|nerve growth factor signaling pathway (GO:0038180)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of neuron projection development (GO:0010976)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|membrane (GO:0016020)|protein complex (GO:0043234)	PDZ domain binding (GO:0030165)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(25)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	60	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)					TTATAAGTGGCGTTTCACCAT	0.398																																																	0													212.0	207.0	209.0					2																	8936988		1964	4164	6128	SO:0001819	synonymous_variant	57498			AK025528	CCDS42650.1	2p24	2013-01-10			ENSG00000134313	ENSG00000134313		"""Ankyrin repeat domain containing"""	29508	protein-coding gene	gene with protein product	"""ankyrin repeat-rich membrane-spanning protein"""	615759				10998417, 10574462	Standard	NM_020738		Approved	ARMS	uc002qzc.2	Q9ULH0	OTTHUMG00000151658	ENST00000256707.3:c.1011G>A	2.37:g.8936988C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A1L4N4|Q4VC08|Q6MZU2|Q9H889|Q9H9E4|Q9NT37|Q9UF42	Silent	SNP	pfam_KAP_NTPase,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,smart_Ankyrin_rpt,prints_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.T337	ENST00000256707.3	37	c.1011	CCDS42650.1	2																																																																																			KIDINS220	-	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom		0.398	KIDINS220-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIDINS220	HGNC	protein_coding	OTTHUMT00000323408.2	C	NM_020738		8936988	-1	no_errors	ENST00000256707	ensembl	human	known	70_37	silent	SNP	0.923	T
KIF12	113220	genome.wustl.edu	37	9	116854204	116854204	+	Silent	SNP	G	G	A			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr9:116854204G>A	ENST00000374118.3	-	16	1716	c.1479C>T	c.(1477-1479)ggC>ggT	p.G493G	KIF12_ENST00000473174.1_5'Flank	NM_138424.1	NP_612433.1	Q96FN5	KIF12_HUMAN	kinesin family member 12	626	Pro-rich.				ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	17						GCTGGCTGCGGCCACGTCGCA	0.657																																																	0													36.0	36.0	36.0					9																	116854204		2203	4300	6503	SO:0001819	synonymous_variant	113220			BC010626	CCDS6801.1	9q33.1	2008-02-05			ENSG00000136883	ENSG00000136883		"""Kinesins"""	21495	protein-coding gene	gene with protein product		611278					Standard	NM_138424		Approved		uc004bif.3	Q96FN5	OTTHUMG00000020533	ENST00000374118.3:c.1479C>T	9.37:g.116854204G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q5TBE0	Silent	SNP	pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.G626	ENST00000374118.3	37	c.1878	CCDS6801.1	9																																																																																			KIF12	-	NULL		0.657	KIF12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF12	HGNC	protein_coding	OTTHUMT00000053751.1	G	NM_138424		116854204	-1	no_errors	ENST00000259410	ensembl	human	known	70_37	silent	SNP	0.821	A
KIF13B	23303	genome.wustl.edu	37	8	28988140	28988140	+	Missense_Mutation	SNP	G	G	C			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr8:28988140G>C	ENST00000524189.1	-	24	3023	c.2985C>G	c.(2983-2985)atC>atG	p.I995M	CTD-2647L4.1_ENST00000523661.1_RNA	NM_015254.3	NP_056069.2	Q9NQT8	KI13B_HUMAN	kinesin family member 13B	995					metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|protein targeting (GO:0006605)|regulation of axonogenesis (GO:0050770)|signal transduction (GO:0007165)|T cell activation (GO:0042110)	axon (GO:0030424)|cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	14-3-3 protein binding (GO:0071889)|ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)|protein kinase binding (GO:0019901)			endometrium(6)|kidney(1)|lung(20)|urinary_tract(1)	28		Ovarian(32;0.000536)		KIRC - Kidney renal clear cell carcinoma(542;0.152)|Kidney(114;0.181)		TCTGTTCCAAGATTTGAACCC	0.418																																																	0													133.0	124.0	127.0					8																	28988140		1841	4096	5937	SO:0001583	missense	23303			AB014539	CCDS55217.1	8p21	2008-07-30				ENSG00000197892		"""Kinesins"""	14405	protein-coding gene	gene with protein product		607350				9734811, 10859302, 16864656	Standard	NM_015254		Approved	GAKIN, KIAA0639	uc003xhh.4	Q9NQT8		ENST00000524189.1:c.2985C>G	8.37:g.28988140G>C	ENSP00000427900:p.Ile995Met	Somatic		WXS	Illumina HiSeq	Phase_IV	B4DGY5|B5MC45|F8VPJ2|O75134|Q9BYJ6	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,pfam_Kinesin-like,pfam_CAP-Gly_domain,pfam_KIF1B,pfam_FHA_dom,superfamily_CAP-Gly_domain,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,pfscan_CAP-Gly_domain,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.I995M	ENST00000524189.1	37	c.2985	CCDS55217.1	8	.	.	.	.	.	.	.	.	.	.	G	15.39	2.820772	0.50633	.	.	ENSG00000197892	ENST00000524189	D	0.85556	-2.0	4.51	0.147	0.14838	.	0.056297	0.64402	D	0.000002	D	0.89273	0.6668	M	0.82823	2.61	0.80722	D	1	D	0.65815	0.995	D	0.71656	0.974	D	0.85282	0.1062	10	0.87932	D	0	.	3.1573	0.06509	0.318:0.0:0.3667:0.3153	.	995	F8VPJ2	.	M	995	ENSP00000427900:I995M	ENSP00000427900:I995M	I	-	3	3	KIF13B	29044059	0.994000	0.37717	0.999000	0.59377	0.995000	0.86356	0.316000	0.19469	0.122000	0.18314	-0.188000	0.12872	ATC	KIF13B	-	NULL		0.418	KIF13B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF13B	HGNC	protein_coding	OTTHUMT00000376878.1	G			28988140	-1	no_errors	ENST00000524189	ensembl	human	known	70_37	missense	SNP	0.994	C
KIF23	9493	genome.wustl.edu	37	15	69715581	69715581	+	Missense_Mutation	SNP	A	A	G			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr15:69715581A>G	ENST00000260363.4	+	7	764	c.647A>G	c.(646-648)tAt>tGt	p.Y216C	KIF23_ENST00000558585.1_Missense_Mutation_p.Y19C|KIF23_ENST00000559279.1_Missense_Mutation_p.Y216C|KIF23_ENST00000352331.4_Missense_Mutation_p.Y216C|KIF23_ENST00000395392.2_Missense_Mutation_p.Y216C|KIF23_ENST00000537891.1_Missense_Mutation_p.Y19C	NM_138555.2	NP_612565.1	Q02241	KIF23_HUMAN	kinesin family member 23	216	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|cytokinesis (GO:0000910)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic spindle elongation (GO:0000022)|positive regulation of cytokinesis (GO:0032467)|spindle midzone assembly involved in mitosis (GO:0051256)	centralspindlin complex (GO:0097149)|centrosome (GO:0005813)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|intercellular bridge (GO:0045171)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|midbody (GO:0030496)|mitotic spindle (GO:0072686)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule binding (GO:0008017)|microtubule motor activity (GO:0003777)			central_nervous_system(1)|endometrium(4)|large_intestine(7)|lung(6)|prostate(2)|skin(1)	21						GATAGTGTCTATGGTGTATTT	0.318																																																	0													66.0	73.0	70.0					15																	69715581		2199	4298	6497	SO:0001583	missense	9493			X67155	CCDS32278.1, CCDS32279.1	15q23	2008-03-03	2003-01-13	2003-01-17		ENSG00000137807		"""Kinesins"""	6392	protein-coding gene	gene with protein product		605064	"""kinesin-like 5 (mitotic kinesin-like protein 1)"""	KNSL5		1406973	Standard	NM_138555		Approved	MKLP1, MKLP-1	uc002asb.3	Q02241		ENST00000260363.4:c.647A>G	15.37:g.69715581A>G	ENSP00000260363:p.Tyr216Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q8WVP0	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.Y216C	ENST00000260363.4	37	c.647	CCDS32278.1	15	.	.	.	.	.	.	.	.	.	.	A	19.15	3.770917	0.69992	.	.	ENSG00000137807	ENST00000260363;ENST00000352331;ENST00000395392;ENST00000537891	T;T;T;T	0.76186	-1.0;-1.0;-1.0;-1.0	5.53	5.53	0.82687	Kinesin, motor domain (4);	0.055946	0.64402	D	0.000001	D	0.85448	0.5699	M	0.76002	2.32	0.80722	D	1	D;D;D	0.89917	0.993;1.0;1.0	D;D;D	0.97110	0.951;0.998;1.0	D	0.86549	0.1833	10	0.56958	D	0.05	.	14.7811	0.69769	1.0:0.0:0.0:0.0	.	19;216;216	B4E1K0;Q02241-2;Q02241	.;.;KIF23_HUMAN	C	216;216;216;19	ENSP00000260363:Y216C;ENSP00000304978:Y216C;ENSP00000378790:Y216C;ENSP00000442969:Y19C	ENSP00000260363:Y216C	Y	+	2	0	KIF23	67502635	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.241000	0.78201	2.219000	0.72066	0.533000	0.62120	TAT	KIF23	-	pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom		0.318	KIF23-201	KNOWN	basic|CCDS	protein_coding	KIF23	HGNC	protein_coding		A			69715581	+1	no_errors	ENST00000260363	ensembl	human	known	70_37	missense	SNP	1.000	G
KIF23	9493	genome.wustl.edu	37	15	69715618	69715618	+	Missense_Mutation	SNP	T	T	G			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr15:69715618T>G	ENST00000260363.4	+	7	801	c.684T>G	c.(682-684)aaT>aaG	p.N228K	KIF23_ENST00000558585.1_Missense_Mutation_p.N31K|KIF23_ENST00000559279.1_Missense_Mutation_p.N228K|KIF23_ENST00000352331.4_Missense_Mutation_p.N228K|KIF23_ENST00000395392.2_Missense_Mutation_p.N228K|KIF23_ENST00000537891.1_Missense_Mutation_p.N31K	NM_138555.2	NP_612565.1	Q02241	KIF23_HUMAN	kinesin family member 23	228	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|cytokinesis (GO:0000910)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic spindle elongation (GO:0000022)|positive regulation of cytokinesis (GO:0032467)|spindle midzone assembly involved in mitosis (GO:0051256)	centralspindlin complex (GO:0097149)|centrosome (GO:0005813)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|intercellular bridge (GO:0045171)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|midbody (GO:0030496)|mitotic spindle (GO:0072686)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle (GO:0005819)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule binding (GO:0008017)|microtubule motor activity (GO:0003777)			central_nervous_system(1)|endometrium(4)|large_intestine(7)|lung(6)|prostate(2)|skin(1)	21						TATATAATAATTACATATATG	0.343																																																	0													28.0	33.0	31.0					15																	69715618		2191	4296	6487	SO:0001583	missense	9493			X67155	CCDS32278.1, CCDS32279.1	15q23	2008-03-03	2003-01-13	2003-01-17		ENSG00000137807		"""Kinesins"""	6392	protein-coding gene	gene with protein product		605064	"""kinesin-like 5 (mitotic kinesin-like protein 1)"""	KNSL5		1406973	Standard	NM_138555		Approved	MKLP1, MKLP-1	uc002asb.3	Q02241		ENST00000260363.4:c.684T>G	15.37:g.69715618T>G	ENSP00000260363:p.Asn228Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q8WVP0	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.N228K	ENST00000260363.4	37	c.684	CCDS32278.1	15	.	.	.	.	.	.	.	.	.	.	T	15.06	2.719967	0.48728	.	.	ENSG00000137807	ENST00000260363;ENST00000352331;ENST00000395392;ENST00000537891	T;T;T;T	0.75367	-0.93;-0.93;-0.93;-0.93	5.53	-1.25	0.09405	Kinesin, motor domain (4);	0.000000	0.85682	D	0.000000	T	0.82144	0.4973	M	0.76727	2.345	0.58432	D	0.999999	D;D;D	0.89917	1.0;0.998;1.0	D;D;D	0.87578	0.998;0.994;0.998	T	0.80730	-0.1252	10	0.62326	D	0.03	.	10.4485	0.44507	0.0:0.6276:0.0:0.3724	.	31;228;228	B4E1K0;Q02241-2;Q02241	.;.;KIF23_HUMAN	K	228;228;228;31	ENSP00000260363:N228K;ENSP00000304978:N228K;ENSP00000378790:N228K;ENSP00000442969:N31K	ENSP00000260363:N228K	N	+	3	2	KIF23	67502672	1.000000	0.71417	0.997000	0.53966	0.197000	0.23852	4.873000	0.63057	-0.081000	0.12662	-0.899000	0.02877	AAT	KIF23	-	pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom		0.343	KIF23-201	KNOWN	basic|CCDS	protein_coding	KIF23	HGNC	protein_coding		T			69715618	+1	no_errors	ENST00000260363	ensembl	human	known	70_37	missense	SNP	1.000	G
KIF26A	26153	genome.wustl.edu	37	14	104641518	104641518	+	Missense_Mutation	SNP	C	C	T	rs201102650		TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr14:104641518C>T	ENST00000423312.2	+	12	2393	c.2393C>T	c.(2392-2394)gCg>gTg	p.A798V	KIF26A_ENST00000315264.7_Missense_Mutation_p.A659V	NM_015656.1	NP_056471.1	Q9ULI4	KI26A_HUMAN	kinesin family member 26A	798					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|blood coagulation (GO:0007596)|enteric nervous system development (GO:0048484)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|negative regulation of signal transduction (GO:0009968)|regulation of cell growth by extracellular stimulus (GO:0001560)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule binding (GO:0008017)|microtubule motor activity (GO:0003777)			autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	21		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0767)	Epithelial(46;0.152)	Epithelial(152;0.161)		CCCGGTGGGGCGGCGCTGTCA	0.697																																																	0													23.0	29.0	27.0					14																	104641518		2067	4174	6241	SO:0001583	missense	26153			AB033062	CCDS45171.1	14q32.33	2009-03-19			ENSG00000066735	ENSG00000066735		"""Kinesins"""	20226	protein-coding gene	gene with protein product		613231				10574462, 11416179	Standard	NM_015656		Approved	KIAA1236, DKFZP434N178	uc001yos.4	Q9ULI4	OTTHUMG00000154986	ENST00000423312.2:c.2393C>T	14.37:g.104641518C>T	ENSP00000388241:p.Ala798Val	Somatic		WXS	Illumina HiSeq	Phase_IV	Q8TAZ7|Q96GK3|Q9UFL3	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.A798V	ENST00000423312.2	37	c.2393	CCDS45171.1	14	.	.	.	.	.	.	.	.	.	.	C	12.16	1.854126	0.32791	.	.	ENSG00000066735	ENST00000423312;ENST00000315264	T;T	0.79352	-1.26;-1.25	3.89	2.97	0.34412	.	.	.	.	.	T	0.69949	0.3168	L	0.57536	1.79	0.43054	D	0.994668	P	0.46912	0.886	B	0.35607	0.206	T	0.71955	-0.4436	9	0.62326	D	0.03	.	12.0348	0.53418	0.0:0.9117:0.0:0.0883	.	798	Q9ULI4	KI26A_HUMAN	V	798;659	ENSP00000388241:A798V;ENSP00000325452:A659V	ENSP00000325452:A659V	A	+	2	0	KIF26A	103711271	0.390000	0.25213	0.007000	0.13788	0.056000	0.15407	3.603000	0.54074	0.710000	0.31997	0.462000	0.41574	GCG	KIF26A	-	NULL		0.697	KIF26A-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	KIF26A	HGNC	protein_coding	OTTHUMT00000414356.1	C			104641518	+1	no_errors	ENST00000423312	ensembl	human	known	70_37	missense	SNP	0.780	T
KIF26B	55083	genome.wustl.edu	37	1	245772752	245772752	+	Silent	SNP	G	G	A			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr1:245772752G>A	ENST00000407071.2	+	8	2276	c.1836G>A	c.(1834-1836)tcG>tcA	p.S612S	KIF26B_ENST00000366518.4_Silent_p.S231S	NM_018012.3	NP_060482.2	Q2KJY2	KI26B_HUMAN	kinesin family member 26B	612	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				establishment of cell polarity (GO:0030010)|metabolic process (GO:0008152)|positive regulation of cell-cell adhesion (GO:0022409)|ureteric bud invasion (GO:0072092)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		OV - Ovarian serous cystadenocarcinoma(106;0.022)			ACCTGCTGTCGGAGGTGGCCA	0.642																																																	0													15.0	20.0	19.0					1																	245772752		1976	4135	6111	SO:0001819	synonymous_variant	55083			AK001019	CCDS44342.1	1q44	2008-02-05			ENSG00000162849	ENSG00000162849		"""Kinesins"""	25484	protein-coding gene	gene with protein product		614026					Standard	NM_018012		Approved	FLJ10157	uc001ibf.1	Q2KJY2	OTTHUMG00000040079	ENST00000407071.2:c.1836G>A	1.37:g.245772752G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q6ZQR9|Q6ZUZ0|Q8IUN3|Q8IVR1|Q9NWB4	Silent	SNP	pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.S612	ENST00000407071.2	37	c.1836	CCDS44342.1	1																																																																																			KIF26B	-	pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom		0.642	KIF26B-005	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF26B	HGNC	protein_coding	OTTHUMT00000381037.1	G	XM_371354		245772752	+1	no_errors	ENST00000407071	ensembl	human	known	70_37	silent	SNP	0.005	A
KIF4A	24137	genome.wustl.edu	37	X	69516913	69516913	+	Missense_Mutation	SNP	G	G	A			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chrX:69516913G>A	ENST00000374403.3	+	4	383	c.301G>A	c.(301-303)Gca>Aca	p.A101T	KIF4A_ENST00000485406.1_3'UTR|KIF4A_ENST00000374388.3_Missense_Mutation_p.A101T	NM_012310.4	NP_036442.3	O95239	KIF4A_HUMAN	kinesin family member 4A	101	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				anterograde axon cargo transport (GO:0008089)|antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|organelle organization (GO:0006996)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|membrane (GO:0016020)|midbody (GO:0030496)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)			breast(6)|endometrium(9)|kidney(3)|large_intestine(8)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	51						AATGGGAGGTGCATATACTGC	0.413																																																	0													95.0	87.0	90.0					X																	69516913		2203	4300	6503	SO:0001583	missense	24137			AF179308	CCDS14401.1	Xq13.1	2008-08-11			ENSG00000090889	ENSG00000090889		"""Kinesins"""	13339	protein-coding gene	gene with protein product	"""chromokinesin"""	300521				10773663	Standard	NM_012310		Approved	KIF4-G1, KIF4, HSA271784, FLJ12530, FLJ12655, FLJ14204, FLJ20631	uc004dyg.3	O95239	OTTHUMG00000021775	ENST00000374403.3:c.301G>A	X.37:g.69516913G>A	ENSP00000363524:p.Ala101Thr	Somatic		WXS	Illumina HiSeq	Phase_IV	B2R7V5|D3DVU4|Q86TN3|Q86XX7|Q9NNY6|Q9NY24|Q9UMW3	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.A101T	ENST00000374403.3	37	c.301	CCDS14401.1	X	.	.	.	.	.	.	.	.	.	.	G	5.006	0.186884	0.09547	.	.	ENSG00000090889	ENST00000374388;ENST00000374403	T;T	0.74315	-0.83;-0.83	5.45	3.69	0.42338	Kinesin, motor domain (4);	0.332965	0.25932	N	0.027376	T	0.52964	0.1767	N	0.12182	0.205	0.43355	D	0.995427	B;B	0.09022	0.001;0.002	B;B	0.13407	0.009;0.005	T	0.36768	-0.9734	10	0.26408	T	0.33	.	7.9423	0.29965	0.2813:0.0:0.7187:0.0	.	101;101	O95239;O95239-2	KIF4A_HUMAN;.	T	101	ENSP00000363509:A101T;ENSP00000363524:A101T	ENSP00000363509:A101T	A	+	1	0	KIF4A	69433638	0.999000	0.42202	1.000000	0.80357	0.995000	0.86356	0.847000	0.27696	0.656000	0.30886	0.538000	0.68166	GCA	KIF4A	-	pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom		0.413	KIF4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF4A	HGNC	protein_coding	OTTHUMT00000057068.1	G	NM_012310		69516913	+1	no_errors	ENST00000374403	ensembl	human	known	70_37	missense	SNP	1.000	A
Unknown	0	genome.wustl.edu	37	GL000209.1	95712	95712	+	IGR	SNP	T	T	C			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chrGL000209.1:95712T>C								None (None upstream) : None (None downstream)																							ACCGGGTTGCTAGCTCCCATG	0.512																																																	0																																										SO:0001628	intergenic_variant	3813																															GL000209.1.37:g.95712T>C		Somatic		WXS	Illumina HiSeq	Phase_IV		Silent	SNP	pfam_Immunoglobulin,smart_Ig_sub	p.A366		37	c.1098		GL000209.1																																																																																			KIR3DS1	-	NULL	0	0.512					KIR3DS1	HGNC			T			95712	+1	no_errors	ENST00000391731	ensembl	human	known	70_37	silent	SNP	NULL	C
KLB	152831	genome.wustl.edu	37	4	39435888	39435888	+	Missense_Mutation	SNP	G	G	T			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr4:39435888G>T	ENST00000257408.4	+	2	981	c.884G>T	c.(883-885)tGg>tTg	p.W295L		NM_175737.3	NP_783864.1	Q86Z14	KLOTB_HUMAN	klotho beta	295	Glycosyl hydrolase-1 1.				carbohydrate metabolic process (GO:0005975)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway (GO:0090080)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	fibroblast growth factor binding (GO:0017134)|hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|skin(6)	29						CAGAAGGGTTGGTTATCGATC	0.413																																																	0													102.0	89.0	93.0					4																	39435888		2203	4300	6503	SO:0001583	missense	152831			AB079373	CCDS3451.1	4p14	2008-02-05			ENSG00000134962	ENSG00000134962			15527	protein-coding gene	gene with protein product		611135					Standard	NM_175737		Approved		uc003gua.3	Q86Z14	OTTHUMG00000128577	ENST00000257408.4:c.884G>T	4.37:g.39435888G>T	ENSP00000257408:p.Trp295Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	Q2M3K8	Missense_Mutation	SNP	pfam_Glyco_hydro_1,superfamily_Glycoside_hydrolase_SF,prints_Glyco_hydro_1	p.W295L	ENST00000257408.4	37	c.884	CCDS3451.1	4	.	.	.	.	.	.	.	.	.	.	G	5.202	0.222757	0.09863	.	.	ENSG00000134962	ENST00000257408	T	0.30448	1.53	6.17	-0.0709	0.13745	Glycoside hydrolase, subgroup, catalytic domain (1);Glycoside hydrolase, superfamily (1);	0.588758	0.19510	N	0.112530	T	0.07818	0.0196	N	0.01417	-0.88	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.04013	0.001;0.001	T	0.38001	-0.9681	10	0.09590	T	0.72	-2.4444	6.2408	0.20789	0.1989:0.0:0.3316:0.4696	.	295;295	B7ZL50;Q86Z14	.;KLOTB_HUMAN	L	295	ENSP00000257408:W295L	ENSP00000257408:W295L	W	+	2	0	KLB	39112283	0.081000	0.21417	0.029000	0.17559	0.861000	0.49209	1.102000	0.31050	0.181000	0.19994	0.655000	0.94253	TGG	KLB	-	pfam_Glyco_hydro_1,superfamily_Glycoside_hydrolase_SF		0.413	KLB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLB	HGNC	protein_coding	OTTHUMT00000250429.1	G	NM_175737		39435888	+1	no_errors	ENST00000257408	ensembl	human	known	70_37	missense	SNP	0.000	T
KLB	152831	genome.wustl.edu	37	4	39448914	39448914	+	Silent	SNP	G	G	A			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr4:39448914G>A	ENST00000257408.4	+	4	2665	c.2568G>A	c.(2566-2568)ctG>ctA	p.L856L		NM_175737.3	NP_783864.1	Q86Z14	KLOTB_HUMAN	klotho beta	856	Glycosyl hydrolase-1 2.				carbohydrate metabolic process (GO:0005975)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAPKKK cascade by fibroblast growth factor receptor signaling pathway (GO:0090080)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	fibroblast growth factor binding (GO:0017134)|hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|skin(6)	29						TCACCCGCCTGAGCTCCCCCA	0.627																																																	0													61.0	61.0	61.0					4																	39448914		2203	4300	6503	SO:0001819	synonymous_variant	152831			AB079373	CCDS3451.1	4p14	2008-02-05			ENSG00000134962	ENSG00000134962			15527	protein-coding gene	gene with protein product		611135					Standard	NM_175737		Approved		uc003gua.3	Q86Z14	OTTHUMG00000128577	ENST00000257408.4:c.2568G>A	4.37:g.39448914G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q2M3K8	Silent	SNP	pfam_Glyco_hydro_1,superfamily_Glycoside_hydrolase_SF,prints_Glyco_hydro_1	p.L856	ENST00000257408.4	37	c.2568	CCDS3451.1	4																																																																																			KLB	-	pfam_Glyco_hydro_1,superfamily_Glycoside_hydrolase_SF		0.627	KLB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLB	HGNC	protein_coding	OTTHUMT00000250429.1	G	NM_175737		39448914	+1	no_errors	ENST00000257408	ensembl	human	known	70_37	silent	SNP	0.961	A
KLC2	64837	genome.wustl.edu	37	11	66032657	66032657	+	Missense_Mutation	SNP	G	G	A	rs201517210		TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr11:66032657G>A	ENST00000417856.1	+	11	1528	c.1285G>A	c.(1285-1287)Gcc>Acc	p.A429T	KLC2_ENST00000394078.1_Intron|KLC2_ENST00000394065.2_Missense_Mutation_p.A290T|KLC2_ENST00000316924.5_Missense_Mutation_p.A429T|KLC2_ENST00000421552.1_Missense_Mutation_p.A352T|KLC2_ENST00000394067.2_Missense_Mutation_p.A429T|RP11-867G23.1_ENST00000530805.1_RNA|KLC2_ENST00000394066.2_Missense_Mutation_p.A352T|RP11-867G23.2_ENST00000533287.1_RNA	NM_001134775.1	NP_001128247.1	Q9H0B6	KLC2_HUMAN	kinesin light chain 2	429					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|axon cargo transport (GO:0008088)|blood coagulation (GO:0007596)|microtubule-based movement (GO:0007018)	ciliary rootlet (GO:0035253)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|kinesin I complex (GO:0016938)|membrane (GO:0016020)|microtubule (GO:0005874)|neuron projection (GO:0043005)|protein complex (GO:0043234)	kinesin binding (GO:0019894)|microtubule motor activity (GO:0003777)			breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|prostate(5)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	24						CCGGGACAGCGCCCCCTATGG	0.657											OREG0021098	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													49.0	58.0	55.0					11																	66032657		2200	4295	6495	SO:0001583	missense	64837			AK022449	CCDS8130.1, CCDS44653.1	11q13.1	2013-01-10			ENSG00000174996	ENSG00000174996		"""Tetratricopeptide (TTC) repeat domain containing"""	20716	protein-coding gene	gene with protein product		611729				9624122	Standard	NM_022822		Approved	FLJ12387	uc001ohb.2	Q9H0B6	OTTHUMG00000133757	ENST00000417856.1:c.1285G>A	11.37:g.66032657G>A	ENSP00000399403:p.Ala429Thr	Somatic	1088	WXS	Illumina HiSeq	Phase_IV	A8MXL7|B2RDY4|Q9H9C8|Q9HA20	Missense_Mutation	SNP	pfam_Rabaptin_Rab5-bd_dom,pfam_TPR-1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom,prints_Kinesin_light	p.A429T	ENST00000417856.1	37	c.1285	CCDS8130.1	11	.	.	.	.	.	.	.	.	.	.	G	14.96	2.690965	0.48097	.	.	ENSG00000174996	ENST00000417856;ENST00000394067;ENST00000316924;ENST00000421552;ENST00000394066;ENST00000394065	T;T;T;T;T;D	0.82711	-1.02;-1.02;-1.02;-0.99;-0.99;-1.64	4.37	3.35	0.38373	.	0.236508	0.36778	N	0.002414	T	0.55242	0.1908	N	0.02357	-0.585	0.30264	N	0.792906	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.47328	-0.9126	10	0.15066	T	0.55	-8.2897	4.6852	0.12754	0.5031:0.0:0.4969:0.0	.	290;352;429	A8MZ87;A8MXL7;Q9H0B6	.;.;KLC2_HUMAN	T	429;429;429;352;352;290	ENSP00000399403:A429T;ENSP00000377631:A429T;ENSP00000314837:A429T;ENSP00000408484:A352T;ENSP00000377630:A352T;ENSP00000377629:A290T	ENSP00000314837:A429T	A	+	1	0	KLC2	65789233	0.991000	0.36638	1.000000	0.80357	0.910000	0.53928	2.321000	0.43805	0.892000	0.36259	0.561000	0.74099	GCC	KLC2	-	NULL		0.657	KLC2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	KLC2	HGNC	protein_coding	OTTHUMT00000258200.1	G	NM_022822		66032657	+1	no_errors	ENST00000316924	ensembl	human	known	70_37	missense	SNP	0.999	A
KLHL1	57626	genome.wustl.edu	37	13	70514243	70514243	+	Missense_Mutation	SNP	A	A	C			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr13:70514243A>C	ENST00000377844.4	-	4	1702	c.943T>G	c.(943-945)Tta>Gta	p.L315V	KLHL1_ENST00000545028.1_Missense_Mutation_p.L122V	NM_020866.2	NP_065917.1	Q9NR64	KLHL1_HUMAN	kelch-like family member 1	315					actin cytoskeleton organization (GO:0030036)|adult walking behavior (GO:0007628)|cerebellar Purkinje cell layer development (GO:0021680)|dendrite development (GO:0016358)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)	actin binding (GO:0003779)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(56)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	84		Breast(118;0.000162)		COAD - Colon adenocarcinoma(199;0.000193)|GBM - Glioblastoma multiforme(99;0.000211)		CGAATTCCTAAACAGTTAGAT	0.453																																																	0													90.0	80.0	83.0					13																	70514243		2203	4300	6503	SO:0001583	missense	57626			AB040923	CCDS9445.1, CCDS73582.1	13q21	2013-01-30	2013-01-30		ENSG00000150361	ENSG00000150361		"""Kelch-like"", ""BTB/POZ domain containing"""	6352	protein-coding gene	gene with protein product	"""Kelch-like protein 1"", ""Mayven-related protein 2"""	605332	"""kelch (Drosophila)-like 1"", ""kelch-like 1 (Drosophila)"""			10888605	Standard	NM_020866		Approved	KIAA1490, MRP2, FLJ30047	uc001vip.3	Q9NR64	OTTHUMG00000017056	ENST00000377844.4:c.943T>G	13.37:g.70514243A>C	ENSP00000367075:p.Leu315Val	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K5X0|Q5VZ64|Q9H4X4|Q9NR65|Q9P238	Missense_Mutation	SNP	pfam_Kelch_1,pfam_Kelch_2,pfam_BACK,pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pfscan_BTB/POZ-like	p.L315V	ENST00000377844.4	37	c.943	CCDS9445.1	13	.	.	.	.	.	.	.	.	.	.	A	19.74	3.883849	0.72410	.	.	ENSG00000150361	ENST00000377844;ENST00000545028	T;T	0.73152	-0.72;-0.72	5.67	-0.774	0.10991	BTB/Kelch-associated (2);	0.000000	0.48286	D	0.000192	T	0.79528	0.4461	M	0.76574	2.34	0.34770	D	0.733631	D;D	0.76494	0.999;0.995	D;D	0.73380	0.98;0.951	T	0.82139	-0.0605	10	0.87932	D	0	.	9.8968	0.41322	0.668:0.0:0.332:0.0	.	315;315	Q8TBJ7;Q9NR64	.;KLHL1_HUMAN	V	315;122	ENSP00000367075:L315V;ENSP00000439602:L122V	ENSP00000367075:L315V	L	-	1	2	KLHL1	69412244	0.921000	0.31238	0.251000	0.24312	0.996000	0.88848	1.598000	0.36740	-0.108000	0.12066	0.455000	0.32223	TTA	KLHL1	-	pfam_BACK,smart_BACK		0.453	KLHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLHL1	HGNC	protein_coding	OTTHUMT00000045231.3	A	NM_020866		70514243	-1	no_errors	ENST00000377844	ensembl	human	known	70_37	missense	SNP	0.821	C
KLHL12	59349	genome.wustl.edu	37	1	202880319	202880319	+	Missense_Mutation	SNP	C	C	G			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr1:202880319C>G	ENST00000367261.3	-	5	798	c.580G>C	c.(580-582)Gag>Cag	p.E194Q	KLHL12_ENST00000367259.1_5'Flank|KLHL12_ENST00000435533.3_Missense_Mutation_p.E232Q	NM_021633.2	NP_067646.1	Q53G59	KLH12_HUMAN	kelch-like family member 12	194	BACK.				COPII vesicle coating (GO:0048208)|ER to Golgi vesicle-mediated transport (GO:0006888)|protein monoubiquitination (GO:0006513)|Wnt signaling pathway (GO:0016055)	Cul3-RING ubiquitin ligase complex (GO:0031463)|ER to Golgi transport vesicle (GO:0030134)|Golgi membrane (GO:0000139)				NS(3)|breast(2)|endometrium(1)|large_intestine(1)|lung(6)|stomach(1)	14			BRCA - Breast invasive adenocarcinoma(75;0.166)			AAGACTGGCTCTTCAGAATCC	0.458																																																	0													149.0	139.0	143.0					1																	202880319		2203	4300	6503	SO:0001583	missense	59349			AF190900	CCDS1429.1	1q32.1	2013-01-30	2013-01-30		ENSG00000117153	ENSG00000117153		"""Kelch-like"", ""BTB/POZ domain containing"""	19360	protein-coding gene	gene with protein product		614522	"""kelch-like 12 (Drosophila)"""			12477932	Standard	NM_021633		Approved	C3IP1	uc001gyo.1	Q53G59	OTTHUMG00000041385	ENST00000367261.3:c.580G>C	1.37:g.202880319C>G	ENSP00000356230:p.Glu194Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NEN8|B7Z7B8|Q9HBX5	Missense_Mutation	SNP	pfam_Kelch_1,pfam_BACK,pfam_BTB_POZ,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like	p.E232Q	ENST00000367261.3	37	c.694	CCDS1429.1	1	.	.	.	.	.	.	.	.	.	.	C	32	5.123107	0.94429	.	.	ENSG00000117153	ENST00000367261;ENST00000435533;ENST00000367258	T;T;T	0.70749	-0.51;-0.51;-0.51	5.56	5.56	0.83823	BTB/Kelch-associated (2);	0.000000	0.85682	D	0.000000	D	0.82508	0.5052	L	0.53617	1.68	0.80722	D	1	D;D;D	0.89917	1.0;0.991;0.991	D;D;D	0.83275	0.996;0.982;0.988	T	0.83164	-0.0097	10	0.87932	D	0	.	19.8805	0.96895	0.0:1.0:0.0:0.0	.	232;232;194	B7Z7B8;A6NEN8;Q53G59	.;.;KLH12_HUMAN	Q	194;232;232	ENSP00000356230:E194Q;ENSP00000416886:E232Q;ENSP00000356227:E232Q	ENSP00000356227:E232Q	E	-	1	0	KLHL12	201146942	1.000000	0.71417	1.000000	0.80357	0.947000	0.59692	7.445000	0.80570	2.778000	0.95560	0.655000	0.94253	GAG	KLHL12	-	pfam_BACK,smart_BACK,pirsf_Kelch-like_gigaxonin		0.458	KLHL12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLHL12	HGNC	protein_coding	OTTHUMT00000099151.1	C	NM_021633		202880319	-1	no_errors	ENST00000435533	ensembl	human	known	70_37	missense	SNP	1.000	G
KLHL13	90293	genome.wustl.edu	37	X	117054302	117054302	+	Missense_Mutation	SNP	A	A	C			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chrX:117054302A>C	ENST00000262820.3	-	3	1181	c.272T>G	c.(271-273)cTt>cGt	p.L91R	KLHL13_ENST00000541812.1_Missense_Mutation_p.L75R|KLHL13_ENST00000469946.1_Missense_Mutation_p.L40R|KLHL13_ENST00000539496.1_Missense_Mutation_p.L94R|KLHL13_ENST00000545703.1_Missense_Mutation_p.L49R|KLHL13_ENST00000371876.1_Missense_Mutation_p.L40R|KLHL13_ENST00000371882.1_Missense_Mutation_p.L40R|KLHL13_ENST00000540167.1_Missense_Mutation_p.L75R|KLHL13_ENST00000371878.1_Missense_Mutation_p.L40R	NM_033495.3	NP_277030.2	Q9P2N7	KLH13_HUMAN	kelch-like family member 13	91					cytokinesis (GO:0000910)|mitotic nuclear division (GO:0007067)|protein ubiquitination (GO:0016567)	Cul3-RING ubiquitin ligase complex (GO:0031463)				NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(9)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	34						CACATCACAAAGCAATCCTTC	0.428																																																	0													187.0	140.0	156.0					X																	117054302		2203	4300	6503	SO:0001583	missense	90293			AB037730	CCDS14571.1, CCDS55479.1, CCDS55480.1, CCDS55481.1	Xq23-q24	2013-01-30	2013-01-30	2004-02-18	ENSG00000003096	ENSG00000003096		"""Kelch-like"", ""BTB/POZ domain containing"""	22931	protein-coding gene	gene with protein product		300655	"""BTB and kelch domain containing 2, KIAA1309"", ""kelch-like 13 (Drosophila)"""	BKLHD2, KIAA1309		10718198	Standard	NM_033495		Approved	FLJ10262	uc011mtp.2	Q9P2N7	OTTHUMG00000022252	ENST00000262820.3:c.272T>G	X.37:g.117054302A>C	ENSP00000262820:p.Leu91Arg	Somatic		WXS	Illumina HiSeq	Phase_IV	B3KV78|B3KWM7|B7Z3S9|B7Z5P2|B7Z802|D3DWH6|Q6P2E3|Q96QI7|Q9UDN9	Missense_Mutation	SNP	pfam_Kelch_1,pfam_BTB_POZ,pfam_BACK,pfam_Kelch_2,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_BACK,smart_Kelch_1,pirsf_Kelch-like_gigaxonin,pfscan_BTB/POZ-like	p.L94R	ENST00000262820.3	37	c.281	CCDS14571.1	X	.	.	.	.	.	.	.	.	.	.	a	24.3	4.513468	0.85389	.	.	ENSG00000003096	ENST00000371882;ENST00000371876;ENST00000371878;ENST00000447671;ENST00000541812;ENST00000540167;ENST00000539496;ENST00000262820;ENST00000545703;ENST00000469946	T;T;T;T;T;T;T;T;T;T	0.71341	-0.56;-0.56;-0.56;-0.56;-0.56;-0.56;-0.56;-0.56;-0.56;-0.56	4.83	4.83	0.62350	BTB/POZ (1);BTB/POZ fold (2);	0.210262	0.41396	D	0.000898	D	0.88355	0.6414	H	0.96365	3.81	0.80722	D	1	D;D;D;D	0.71674	0.998;0.978;0.989;0.995	D;D;D;D	0.72625	0.978;0.923;0.951;0.971	D	0.91779	0.5434	10	0.87932	D	0	.	13.5803	0.61898	1.0:0.0:0.0:0.0	.	75;94;85;91	Q9P2N7-3;Q9P2N7-5;Q9P2N7-4;Q9P2N7	.;.;.;KLH13_HUMAN	R	40;40;40;40;75;75;94;91;49;40	ENSP00000360949:L40R;ENSP00000360943:L40R;ENSP00000360945:L40R;ENSP00000412640:L40R;ENSP00000444450:L75R;ENSP00000441029:L75R;ENSP00000443191:L94R;ENSP00000262820:L91R;ENSP00000440707:L49R;ENSP00000419803:L40R	ENSP00000262820:L91R	L	-	2	0	KLHL13	116938330	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.136000	0.94489	1.779000	0.52309	0.438000	0.28831	CTT	KLHL13	-	pfam_BTB_POZ,superfamily_BTB/POZ_fold,pirsf_Kelch-like_gigaxonin		0.428	KLHL13-201	KNOWN	basic|CCDS	protein_coding	KLHL13	HGNC	protein_coding		A	NM_033495		117054302	-1	no_errors	ENST00000539496	ensembl	human	known	70_37	missense	SNP	1.000	C
KLHL33	123103	genome.wustl.edu	37	14	20897148	20897148	+	Missense_Mutation	SNP	A	A	C			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr14:20897148A>C	ENST00000344581.4	-	4	1684	c.1462T>G	c.(1462-1464)Tgt>Ggt	p.C488G		NM_001109997.2	NP_001103467.2	A6NCF5	KLH33_HUMAN	kelch-like family member 33	488												all_cancers(95;0.00123)		Epithelial(56;7.57e-08)|all cancers(55;8.63e-07)	GBM - Glioblastoma multiforme(265;0.0223)|READ - Rectum adenocarcinoma(17;0.193)		AGGCCAGGACAGTAGGCATGG	0.627																																																	0													58.0	61.0	61.0					14																	20897148		692	1591	2283	SO:0001583	missense	123103				CCDS53882.1	14q11.2	2013-10-15	2013-02-22		ENSG00000185271	ENSG00000185271		"""Kelch-like"""	31952	protein-coding gene	gene with protein product			"""kelch-like 33 (Drosophila)"""				Standard	NM_001109997		Approved		uc010tli.2	A6NCF5	OTTHUMG00000170982	ENST00000344581.4:c.1462T>G	14.37:g.20897148A>C	ENSP00000341549:p.Cys488Gly	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_Kelch_1,pfam_Kelch_2,pfam_BACK,superfamily_BTB/POZ_fold,smart_BACK,smart_Kelch_1	p.C488G	ENST00000344581.4	37	c.1462	CCDS53882.1	14	.	.	.	.	.	.	.	.	.	.	A	0.704	-0.789865	0.02884	.	.	ENSG00000185271	ENST00000344581	T	0.65364	-0.15	5.2	2.78	0.32641	Kelch-type beta propeller (1);	0.580933	0.18564	N	0.137521	T	0.43875	0.1267	N	0.22421	0.69	0.09310	N	1	B	0.15473	0.013	B	0.09377	0.004	T	0.24476	-1.0159	10	0.31617	T	0.26	.	8.4836	0.33059	0.5395:0.0:0.0:0.4605	.	488	A6NCF5	KLH33_HUMAN	G	488	ENSP00000341549:C488G	ENSP00000341549:C488G	C	-	1	0	KLHL33	19966988	0.008000	0.16893	0.126000	0.21872	0.998000	0.95712	1.360000	0.34125	0.407000	0.25591	0.533000	0.62120	TGT	KLHL33	-	smart_Kelch_1		0.627	KLHL33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLHL33	HGNC	protein_coding	OTTHUMT00000411038.1	A	XM_063481		20897148	-1	no_errors	ENST00000344581	ensembl	human	known	70_37	missense	SNP	0.010	C
KLK4	9622	genome.wustl.edu	37	19	51410259	51410259	+	Silent	SNP	G	G	A			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr19:51410259G>A	ENST00000324041.1	-	5	695	c.696C>T	c.(694-696)ggC>ggT	p.G232G	KLK4_ENST00000597441.1_5'Flank|KLK4_ENST00000431178.2_3'UTR	NM_004917.3	NP_004908.3	Q9Y5K2	KLK4_HUMAN	kallikrein-related peptidase 4	232	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				amelogenesis (GO:0097186)|extracellular matrix disassembly (GO:0022617)|protein catabolic process (GO:0030163)|proteolysis (GO:0006508)	extracellular region (GO:0005576)	metal ion binding (GO:0046872)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|liver(1)|lung(8)	19		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00624)|GBM - Glioblastoma multiforme(134;0.00878)		CACCTGGCACGCCAACTTGGC	0.557																																																	0													99.0	98.0	98.0					19																	51410259		2203	4300	6503	SO:0001819	synonymous_variant	9622			AF113141	CCDS12809.1	19q13.41	2014-09-04	2006-10-27		ENSG00000167749	ENSG00000167749		"""Kallikreins"", ""Serine peptidases / Serine peptidases"""	6365	protein-coding gene	gene with protein product		603767	"""kallikrein 4 (prostase, enamel matrix, prostate)"""	PRSS17		10077646, 10438493, 16800724, 10863090, 9465170	Standard	XM_005259441		Approved	EMSP, EMSP1, PSTS, KLK-L1	uc002pua.1	Q9Y5K2	OTTHUMG00000182964	ENST00000324041.1:c.696C>T	19.37:g.51410259G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q4VB16|Q96RU5|Q9GZL6|Q9UBJ6	Silent	SNP	pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A	p.G232	ENST00000324041.1	37	c.696	CCDS12809.1	19																																																																																			KLK4	-	pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6		0.557	KLK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLK4	HGNC	protein_coding	OTTHUMT00000464449.1	G	NM_004917		51410259	-1	no_errors	ENST00000324041	ensembl	human	known	70_37	silent	SNP	0.000	A
KLK8	11202	genome.wustl.edu	37	19	51499381	51499381	+	Silent	SNP	A	A	T			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr19:51499381A>T	ENST00000600767.1	-	7	1206	c.717T>A	c.(715-717)ccT>ccA	p.P239P	KLK8_ENST00000320838.5_3'UTR|KLK8_ENST00000347619.4_Silent_p.P98P|KLK8_ENST00000598195.1_5'UTR|KLK8_ENST00000593490.1_3'UTR|CTB-147C22.9_ENST00000594512.1_RNA|KLK8_ENST00000391806.2_Silent_p.P284P|KLK8_ENST00000291726.7_Silent_p.P239P			O60259	KLK8_HUMAN	kallikrein-related peptidase 8	239	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				cell death (GO:0008219)|keratinocyte proliferation (GO:0043616)|memory (GO:0007613)|negative regulation of axon regeneration (GO:0048681)|negative regulation of myelination (GO:0031642)|neuron projection morphogenesis (GO:0048812)|regulation of synapse organization (GO:0050807)|response to wounding (GO:0009611)|synapse organization (GO:0050808)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	serine-type endopeptidase activity (GO:0004252)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(8)|prostate(1)	15		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.0033)|GBM - Glioblastoma multiforme(134;0.00888)		TATAGACGCCAGGTTTGTCGG	0.547																																																	0													170.0	157.0	161.0					19																	51499381		2203	4300	6503	SO:0001819	synonymous_variant	11202			AB008390	CCDS12813.1, CCDS12814.1, CCDS12815.1, CCDS42600.1, CCDS74433.1	19q13	2011-09-07	2006-10-27			ENSG00000129455		"""Kallikreins"", ""Serine peptidases / Serine peptidases"""	6369	protein-coding gene	gene with protein product		605644	"""kallikrein 8 (neuropsin/ovasin)"""	PRSS19		10102990, 9714609, 16800724, 16800723	Standard	NM_144505		Approved	HNP, TADG14, neuropsin, ovasin	uc002pur.1	O60259		ENST00000600767.1:c.717T>A	19.37:g.51499381A>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q5V9X1|Q5V9X2|Q8IW69|Q9HCB3|Q9NR68|Q9NR69|Q9UIL9|Q9UQ47	Silent	SNP	pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A	p.P284	ENST00000600767.1	37	c.852	CCDS12813.1	19																																																																																			KLK8	-	pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6		0.547	KLK8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLK8	HGNC	protein_coding	OTTHUMT00000465032.2	A	NM_007196		51499381	-1	no_errors	ENST00000391806	ensembl	human	known	70_37	silent	SNP	0.982	T
KLK12	43849	genome.wustl.edu	37	19	51535321	51535321	+	Missense_Mutation	SNP	C	C	T	rs563322085		TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr19:51535321C>T	ENST00000525263.1	-	3	387	c.268G>A	c.(268-270)Ggc>Agc	p.G90S	KLK12_ENST00000250352.11_Intron|KLK12_ENST00000319590.4_Missense_Mutation_p.G90S|CTC-518B2.9_ENST00000594910.1_RNA|KLK12_ENST00000529888.1_Intron|KLK12_ENST00000250351.4_Missense_Mutation_p.G90S			Q9UKR0	KLK12_HUMAN	kallikrein-related peptidase 12	90	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				proteolysis (GO:0006508)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	peptidase activity (GO:0008233)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			endometrium(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1)|stomach(1)|urinary_tract(1)	12		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00328)|GBM - Glioblastoma multiforme(134;0.00399)		ACAGAGAAGCCGCTGTGCCGG	0.701													C|||	1	0.000199681	0.0	0.0	5008	,	,		12059	0.0		0.001	False		,,,				2504	0.0																0													31.0	23.0	26.0					19																	51535321		2202	4298	6500	SO:0001583	missense	43849				CCDS12820.1, CCDS12821.1, CCDS54298.1	19q13.33	2008-02-05	2006-10-27		ENSG00000186474	ENSG00000186474		"""Kallikreins"""	6360	protein-coding gene	gene with protein product		605539	"""kallikrein 12"""			16800724, 16800723	Standard	NM_019598		Approved	KLK-L5	uc002pvh.1	Q9UKR0	OTTHUMG00000165806	ENST00000525263.1:c.268G>A	19.37:g.51535321C>T	ENSP00000436458:p.Gly90Ser	Somatic		WXS	Illumina HiSeq	Phase_IV	Q9UKR1|Q9UKR2	Missense_Mutation	SNP	pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A	p.G90S	ENST00000525263.1	37	c.268	CCDS12821.1	19	.	.	.	.	.	.	.	.	.	.	c	0.331	-0.956009	0.02267	.	.	ENSG00000186474	ENST00000525263;ENST00000319590;ENST00000250351	D;D;D	0.87650	-2.28;-2.28;-2.28	4.07	0.662	0.17880	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.612418	0.13664	N	0.371359	T	0.50377	0.1612	N	0.00242	-1.785	0.18873	N	0.999989	B;B	0.13594	0.008;0.001	B;B	0.09377	0.004;0.002	T	0.56553	-0.7960	10	0.02654	T	1	.	3.6914	0.08347	0.0:0.4893:0.1878:0.3229	.	90;90	Q9UKR0-2;Q9UKR0	.;KLK12_HUMAN	S	90	ENSP00000436458:G90S;ENSP00000324181:G90S;ENSP00000250351:G90S	ENSP00000250351:G90S	G	-	1	0	KLK12	56227133	0.000000	0.05858	0.739000	0.30968	0.184000	0.23303	-0.236000	0.09003	0.133000	0.18654	-0.846000	0.03041	GGC	KLK12	-	pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6		0.701	KLK12-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	KLK12	HGNC	protein_coding	OTTHUMT00000386288.1	C	NM_019598		51535321	-1	no_errors	ENST00000250351	ensembl	human	known	70_37	missense	SNP	0.218	T
KLRC4	8302	genome.wustl.edu	37	12	10560365	10560365	+	Missense_Mutation	SNP	C	C	G			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr12:10560365C>G	ENST00000309384.1	-	4	545	c.364G>C	c.(364-366)Gag>Cag	p.E122Q	KLRC4-KLRK1_ENST00000539300.1_Nonstop_Mutation_p.*113S	NM_013431.2	NP_038459.1	O43908	NKG2F_HUMAN	killer cell lectin-like receptor subfamily C, member 4	122					cellular defense response (GO:0006968)	integral component of membrane (GO:0016021)				endometrium(2)|kidney(1)|large_intestine(1)|lung(1)	5						ATCCACTCCTCAGGACAATGG	0.328																																																	0													150.0	150.0	150.0					12																	10560365		2203	4300	6503	SO:0001583	missense	8302			U96846	CCDS8624.1	12p13.2-p12.3	2008-08-05			ENSG00000183542	ENSG00000183542		"""Killer cell lectin-like receptors"""	6377	protein-coding gene	gene with protein product		602893				9598306	Standard	NM_013431		Approved	NKG2-F	uc001qye.3	O43908	OTTHUMG00000168575	ENST00000309384.1:c.364G>C	12.37:g.10560365C>G	ENSP00000310216:p.Glu122Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	O60851	Missense_Mutation	SNP	superfamily_C-type_lectin_fold	p.E122Q	ENST00000309384.1	37	c.364	CCDS8624.1	12	.	.	.	.	.	.	.	.	.	.	C	10.70	1.423425	0.25639	.	.	ENSG00000183542	ENST00000309384	T	0.04917	3.53	4.1	-3.68	0.04463	C-type lectin fold (1);C-type lectin-like (1);	1.147010	0.06525	N	0.740403	T	0.09992	0.0245	M	0.80183	2.485	0.09310	N	1	B	0.17038	0.02	B	0.19946	0.027	T	0.43589	-0.9382	10	0.56958	D	0.05	.	6.3357	0.21294	0.0:0.5813:0.1687:0.25	.	122	O43908	NKG2F_HUMAN	Q	122	ENSP00000310216:E122Q	ENSP00000310216:E122Q	E	-	1	0	KLRC4	10451632	0.000000	0.05858	0.003000	0.11579	0.056000	0.15407	-0.363000	0.07593	-0.619000	0.05648	0.585000	0.79938	GAG	KLRC4	-	superfamily_C-type_lectin_fold		0.328	KLRC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLRC4	HGNC	protein_coding	OTTHUMT00000400108.1	C	NM_013431		10560365	-1	no_errors	ENST00000309384	ensembl	human	known	70_37	missense	SNP	0.017	G
KREMEN1	83999	genome.wustl.edu	37	22	29490296	29490296	+	Missense_Mutation	SNP	G	G	T			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr22:29490296G>T	ENST00000407188.1	+	2	142	c.142G>T	c.(142-144)Gca>Tca	p.A48S	KREMEN1_ENST00000327813.5_Missense_Mutation_p.A50S|KREMEN1_ENST00000400338.2_Missense_Mutation_p.A50S|KREMEN1_ENST00000400335.4_Missense_Mutation_p.A50S			Q96MU8	KREM1_HUMAN	kringle containing transmembrane protein 1	48	Kringle. {ECO:0000255|PROSITE- ProRule:PRU00121}.				cell communication (GO:0007154)|regulation of canonical Wnt signaling pathway (GO:0060828)|Wnt signaling pathway (GO:0016055)	integral component of membrane (GO:0016021)|membrane (GO:0016020)				breast(1)|endometrium(3)|large_intestine(2)|lung(8)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)	20						GAACTGGACAGCACTACAAGG	0.483																																																	0													119.0	115.0	116.0					22																	29490296		1923	4133	6056	SO:0001583	missense	83999			AB059618	CCDS43000.1, CCDS13849.1, CCDS43000.2	22q12.1	2008-03-27	2002-11-13	2002-11-15	ENSG00000183762	ENSG00000183762			17550	protein-coding gene	gene with protein product		609898	"""kringle containing transmembrane protein"""	KREMEN		11267660	Standard	NM_001039570		Approved	KRM1	uc011akm.1	Q96MU8	OTTHUMG00000030987	ENST00000407188.1:c.142G>T	22.37:g.29490296G>T	ENSP00000385431:p.Ala48Ser	Somatic		WXS	Illumina HiSeq	Phase_IV	B0QY46|B0QY47|B1AJR5|Q5TIB9|Q6P3X6|Q9BY70|Q9UGS5|Q9UGU1	Missense_Mutation	SNP	pfam_Kringle,pfam_WSC_carb-bd,pfam_CUB,superfamily_Kringle-like,superfamily_CUB,smart_Kringle,smart_WSC_carb-bd_subgr,smart_CUB,pirsf_Kremen,pfscan_CUB,pfscan_Kringle,pfscan_WSC_carb-bd	p.A50S	ENST00000407188.1	37	c.148	CCDS43000.2	22	.	.	.	.	.	.	.	.	.	.	G	4.073	0.011329	0.07912	.	.	ENSG00000183762	ENST00000400335;ENST00000400338;ENST00000327813;ENST00000407188	T;T;T;T	0.62498	0.02;0.02;0.02;0.02	4.99	3.94	0.45596	.	0.098941	0.42548	D	0.000699	T	0.29588	0.0738	N	0.01576	-0.805	0.31704	N	0.640375	B;B	0.13145	0.006;0.007	B;B	0.15484	0.013;0.011	T	0.27088	-1.0084	10	0.08837	T	0.75	.	10.6387	0.45579	0.0:0.0:0.6518:0.3482	.	50;50	Q96MU8-2;Q96MU8-3	.;.	S	50;50;50;48	ENSP00000383189:A50S;ENSP00000383192:A50S;ENSP00000331242:A50S;ENSP00000385431:A48S	ENSP00000331242:A50S	A	+	1	0	KREMEN1	27820296	0.966000	0.33281	0.970000	0.41538	0.997000	0.91878	1.865000	0.39479	1.200000	0.43188	0.650000	0.86243	GCA	KREMEN1	-	pfam_Kringle,superfamily_Kringle-like,smart_Kringle,pirsf_Kremen,pfscan_Kringle		0.483	KREMEN1-004	KNOWN	non_canonical_TEC|basic|appris_principal|CCDS	protein_coding	KREMEN1	HGNC	protein_coding	OTTHUMT00000320947.1	G			29490296	+1	no_errors	ENST00000327813	ensembl	human	known	70_37	missense	SNP	0.999	T
KRT1	3848	genome.wustl.edu	37	12	53069101	53069101	+	Missense_Mutation	SNP	G	G	A			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr12:53069101G>A	ENST00000252244.3	-	9	1869	c.1811C>T	c.(1810-1812)tCt>tTt	p.S604F		NM_006121.3	NP_006112.3	P04264	K2C1_HUMAN	keratin 1	604	Gly/Ser-rich.|Tail.				complement activation, lectin pathway (GO:0001867)|establishment of skin barrier (GO:0061436)|fibrinolysis (GO:0042730)|negative regulation of inflammatory response (GO:0050728)|regulation of angiogenesis (GO:0045765)|response to oxidative stress (GO:0006979)|retina homeostasis (GO:0001895)	blood microparticle (GO:0072562)|cytoskeleton (GO:0005856)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)|structural molecule activity (GO:0005198)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(7)|skin(3)	39						CCCGCCGCCAGAGCCCCGgcc	0.697																																																	0													16.0	23.0	21.0					12																	53069101		2111	4120	6231	SO:0001583	missense	3848			X69725	CCDS8836.1	12q13.13	2014-06-05	2008-08-01		ENSG00000167768	ENSG00000167768		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6412	protein-coding gene	gene with protein product		139350	"""epidermolytic hyperkeratosis 1"""	EHK1		2461420, 2470667, 16831889	Standard	NM_006121		Approved	KRT1A	uc001sau.1	P04264	OTTHUMG00000169749	ENST00000252244.3:c.1811C>T	12.37:g.53069101G>A	ENSP00000252244:p.Ser604Phe	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RA01|P85925|P86104|Q14720|Q6GSJ0|Q9H298	Missense_Mutation	SNP	pfam_F,superfamily_Prefoldin,prints_Keratin_II	p.S604F	ENST00000252244.3	37	c.1811	CCDS8836.1	12	.	.	.	.	.	.	.	.	.	.	G	0.021	-1.426769	0.01117	.	.	ENSG00000167768	ENST00000252244	D	0.89875	-2.58	3.67	3.67	0.42095	.	.	.	.	.	T	0.80711	0.4675	N	0.08118	0	0.09310	N	1	D	0.54772	0.968	P	0.47673	0.554	T	0.72221	-0.4356	9	0.87932	D	0	.	8.6535	0.34049	0.1121:0.0:0.8879:0.0	.	604	P04264	K2C1_HUMAN	F	604	ENSP00000252244:S604F	ENSP00000252244:S604F	S	-	2	0	KRT1	51355368	0.057000	0.20700	0.023000	0.16930	0.460000	0.32559	2.155000	0.42301	1.784000	0.52394	0.313000	0.20887	TCT	KRT1	-	NULL		0.697	KRT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT1	HGNC	protein_coding	OTTHUMT00000405706.1	G	NM_006121		53069101	-1	no_errors	ENST00000252244	ensembl	human	known	70_37	missense	SNP	0.059	A
KRT1	3848	genome.wustl.edu	37	12	53071166	53071166	+	Silent	SNP	G	G	T			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr12:53071166G>T	ENST00000252244.3	-	5	1120	c.1062C>A	c.(1060-1062)gtC>gtA	p.V354V		NM_006121.3	NP_006112.3	P04264	K2C1_HUMAN	keratin 1	354	Coil 2.|Rod.				complement activation, lectin pathway (GO:0001867)|establishment of skin barrier (GO:0061436)|fibrinolysis (GO:0042730)|negative regulation of inflammatory response (GO:0050728)|regulation of angiogenesis (GO:0045765)|response to oxidative stress (GO:0006979)|retina homeostasis (GO:0001895)	blood microparticle (GO:0072562)|cytoskeleton (GO:0005856)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)|structural molecule activity (GO:0005198)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|lung(11)|ovary(1)|prostate(7)|skin(3)	39						ACTGGGCCTTGACCTCAGCAA	0.512																																																	0													130.0	120.0	124.0					12																	53071166		2203	4300	6503	SO:0001819	synonymous_variant	3848			X69725	CCDS8836.1	12q13.13	2014-06-05	2008-08-01		ENSG00000167768	ENSG00000167768		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6412	protein-coding gene	gene with protein product		139350	"""epidermolytic hyperkeratosis 1"""	EHK1		2461420, 2470667, 16831889	Standard	NM_006121		Approved	KRT1A	uc001sau.1	P04264	OTTHUMG00000169749	ENST00000252244.3:c.1062C>A	12.37:g.53071166G>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B2RA01|P85925|P86104|Q14720|Q6GSJ0|Q9H298	Silent	SNP	pfam_F,superfamily_Prefoldin,prints_Keratin_II	p.V354	ENST00000252244.3	37	c.1062	CCDS8836.1	12																																																																																			KRT1	-	pfam_F		0.512	KRT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT1	HGNC	protein_coding	OTTHUMT00000405706.1	G	NM_006121		53071166	-1	no_errors	ENST00000252244	ensembl	human	known	70_37	silent	SNP	0.224	T
KRT31	3881	genome.wustl.edu	37	17	39553570	39553570	+	Silent	SNP	C	C	T			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr17:39553570C>T	ENST00000251645.2	-	1	274	c.222G>A	c.(220-222)gtG>gtA	p.V74V		NM_002277.2	NP_002268.2	Q15323	K1H1_HUMAN	keratin 31	74	Coil 1A.|Rod.				epidermis development (GO:0008544)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	structural constituent of cytoskeleton (GO:0005200)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(7)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	31		Breast(137;0.000496)				CCAGCTGACGCACTTTCTCCA	0.582																																																	0													86.0	84.0	85.0					17																	39553570		2203	4299	6502	SO:0001819	synonymous_variant	3881			X86570	CCDS11391.1	17q21.2	2014-05-20	2006-07-17	2006-07-17	ENSG00000094796	ENSG00000094796		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6448	protein-coding gene	gene with protein product	"""hard keratin type I 1"""	601077	"""keratin, hair, acidic, 1"""	KRTHA1		7578244, 16831889	Standard	NM_002277		Approved	Ha-1	uc002hwn.3	Q15323	OTTHUMG00000133423	ENST00000251645.2:c.222G>A	17.37:g.39553570C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q9UE12	Silent	SNP	pfam_F,superfamily_Prefoldin,prints_Keratin_I	p.V74	ENST00000251645.2	37	c.222	CCDS11391.1	17																																																																																			KRT31	-	pfam_F		0.582	KRT31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT31	HGNC	protein_coding	OTTHUMT00000257286.1	C	NM_002277		39553570	-1	no_errors	ENST00000251645	ensembl	human	known	70_37	silent	SNP	0.998	T
KRTAP27-1	643812	genome.wustl.edu	37	21	31709821	31709821	+	Missense_Mutation	SNP	C	C	T			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr21:31709821C>T	ENST00000382835.2	-	1	191	c.166G>A	c.(166-168)Gaa>Aaa	p.E56K		NM_001077711.1	NP_001071179.1	Q3LI81	KR271_HUMAN	keratin associated protein 27-1	56						intermediate filament (GO:0005882)				endometrium(2)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)|skin(1)	18						CTGGTGGTTTCATTGCAGGTT	0.443																																																	0													161.0	152.0	155.0					21																	31709821		2203	4300	6503	SO:0001583	missense	643812			AB096937	CCDS33532.1	21q22.11	2007-11-23			ENSG00000206107	ENSG00000206107		"""Keratin associated proteins"""	33864	protein-coding gene	gene with protein product							Standard	NM_001077711		Approved		uc002ynx.1	Q3LI81	OTTHUMG00000059577	ENST00000382835.2:c.166G>A	21.37:g.31709821C>T	ENSP00000372286:p.Glu56Lys	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_PMG	p.E56K	ENST00000382835.2	37	c.166	CCDS33532.1	21	.	.	.	.	.	.	.	.	.	.	C	8.644	0.896758	0.17686	.	.	ENSG00000206107	ENST00000382835	T	0.08807	3.05	4.34	2.38	0.29361	.	0.539186	0.16418	N	0.215296	T	0.09024	0.0223	M	0.74647	2.275	0.09310	N	1	P	0.37423	0.594	B	0.31337	0.128	T	0.21965	-1.0230	10	0.42905	T	0.14	-1.0987	4.9523	0.14021	0.0:0.6594:0.214:0.1266	.	56	Q3LI81	KR271_HUMAN	K	56	ENSP00000372286:E56K	ENSP00000372286:E56K	E	-	1	0	KRTAP27-1	30631692	0.879000	0.30193	0.006000	0.13384	0.236000	0.25371	1.601000	0.36773	0.672000	0.31204	0.591000	0.81541	GAA	KRTAP27-1	-	pfam_PMG		0.443	KRTAP27-1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	KRTAP27-1	HGNC	protein_coding	OTTHUMT00000132470.3	C	NM_001077711		31709821	-1	no_errors	ENST00000382835	ensembl	human	known	70_37	missense	SNP	0.008	T
L1CAM	3897	genome.wustl.edu	37	X	153138085	153138085	+	Missense_Mutation	SNP	G	G	C			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chrX:153138085G>C	ENST00000370060.1	-	4	348	c.159C>G	c.(157-159)atC>atG	p.I53M	L1CAM_ENST00000370055.1_Missense_Mutation_p.I48M|L1CAM_ENST00000543994.1_Missense_Mutation_p.I55M|L1CAM_ENST00000361981.3_Missense_Mutation_p.I48M|L1CAM_ENST00000370057.3_Missense_Mutation_p.I53M|L1CAM_ENST00000361699.4_Missense_Mutation_p.I53M|L1CAM_ENST00000538883.1_Missense_Mutation_p.I55M	NM_001278116.1	NP_001265045.1	P32004	L1CAM_HUMAN	L1 cell adhesion molecule	53	Ig-like C2-type 1.				axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell death (GO:0008219)|cell surface receptor signaling pathway (GO:0007166)|cell-cell adhesion mediated by integrin (GO:0033631)|chemotaxis (GO:0006935)|heterophilic cell-cell adhesion (GO:0007157)|homophilic cell adhesion (GO:0007156)|homotypic cell-cell adhesion (GO:0034109)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|nervous system development (GO:0007399)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of cell-cell adhesion (GO:0022409)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	sialic acid binding (GO:0033691)			NS(1)|breast(4)|central_nervous_system(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|liver(1)|lung(31)|ovary(13)|pancreas(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	81	all_cancers(53;6.72e-15)|all_epithelial(53;3.19e-09)|all_lung(58;3.39e-06)|all_hematologic(71;4.25e-06)|Lung NSC(58;4.7e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					ACTTGAGGCTGATGTCATCTG	0.617																																																	0													111.0	84.0	93.0					X																	153138085		2203	4300	6503	SO:0001583	missense	3897			M74387	CCDS14733.1, CCDS14734.1, CCDS48192.1	Xq28	2014-09-17	2003-04-07		ENSG00000198910	ENSG00000198910		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	6470	protein-coding gene	gene with protein product		308840	"""antigen identified by monoclonal antibody R1"""	HSAS1, SPG1, HSAS, MASA, MIC5, S10			Standard	NM_001278116		Approved	CD171	uc031tks.1	P32004	OTTHUMG00000024221	ENST00000370060.1:c.159C>G	X.37:g.153138085G>C	ENSP00000359077:p.Ile53Met	Somatic		WXS	Illumina HiSeq	Phase_IV	A0AV65|A4ZYW4|B2RMU7|G3XAF4|Q8TA87	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.I55M	ENST00000370060.1	37	c.165	CCDS14733.1	X	.	.	.	.	.	.	.	.	.	.	G	18.72	3.684917	0.68157	.	.	ENSG00000198910	ENST00000370060;ENST00000543994;ENST00000370057;ENST00000538883;ENST00000361981;ENST00000370055;ENST00000361699;ENST00000439496;ENST00000407935;ENST00000420165;ENST00000458029	T;T;T;T;T;T;T;T;T;T;T	0.13307	2.6;2.6;2.6;2.6;2.6;2.6;2.6;2.6;2.6;2.6;2.6	4.69	1.76	0.24704	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.088536	0.46145	D	0.000314	T	0.21761	0.0524	M	0.81112	2.525	0.39930	D	0.974279	P;B;P	0.43750	0.64;0.061;0.816	P;B;P	0.50405	0.507;0.113;0.64	T	0.05099	-1.0906	10	0.87932	D	0	.	1.0624	0.01604	0.1754:0.1484:0.3532:0.323	.	48;53;53	G3XAF4;P32004-2;P32004	.;.;L1CAM_HUMAN	M	53;55;53;55;48;48;53;53;48;48;53	ENSP00000359077:I53M;ENSP00000438430:I55M;ENSP00000359074:I53M;ENSP00000439645:I55M;ENSP00000354712:I48M;ENSP00000359072:I48M;ENSP00000355380:I53M;ENSP00000402407:I53M;ENSP00000384902:I48M;ENSP00000392524:I48M;ENSP00000396079:I53M	ENSP00000355380:I53M	I	-	3	3	L1CAM	152791279	0.965000	0.33210	1.000000	0.80357	0.998000	0.95712	0.614000	0.24314	0.377000	0.24735	0.529000	0.55759	ATC	L1CAM	-	pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like		0.617	L1CAM-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	L1CAM	HGNC	protein_coding	OTTHUMT00000061094.2	G	NM_024003		153138085	-1	no_errors	ENST00000543994	ensembl	human	known	70_37	missense	SNP	0.988	C
LAMB1	3912	genome.wustl.edu	37	7	107621098	107621098	+	Missense_Mutation	SNP	C	C	T	rs571064446		TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr7:107621098C>T	ENST00000222399.6	-	8	1065	c.835G>A	c.(835-837)Gaa>Aaa	p.E279K	LAMB1_ENST00000393561.1_Missense_Mutation_p.E303K|LAMB1_ENST00000393560.1_Missense_Mutation_p.E279K	NM_002291.2	NP_002282.2	P07942	LAMB1_HUMAN	laminin, beta 1	279	Laminin EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00460}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|embryo implantation (GO:0007566)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of cell adhesion (GO:0007162)|neuron projection development (GO:0031175)|neuronal-glial interaction involved in cerebral cortex radial glia guided migration (GO:0021812)|odontogenesis (GO:0042476)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell proliferation (GO:0050679)|substrate adhesion-dependent cell spreading (GO:0034446)	basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-10 complex (GO:0043259)|laminin-2 complex (GO:0005607)|laminin-8 complex (GO:0043257)|perinuclear region of cytoplasm (GO:0048471)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)|structural molecule activity (GO:0005198)			NS(3)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(37)|ovary(6)|prostate(5)|skin(5)|upper_aerodigestive_tract(3)	82						GGGGCACATTCGCTGGCATGA	0.418													C|||	1	0.000199681	0.0008	0.0	5008	,	,		20102	0.0		0.0	False		,,,				2504	0.0																0													153.0	131.0	139.0					7																	107621098		2203	4300	6503	SO:0001583	missense	3912			M61916	CCDS5750.1	7q22	2013-03-01			ENSG00000091136	ENSG00000091136		"""Laminins"""	6486	protein-coding gene	gene with protein product		150240	"""cutis laxa with marfanoid phenotype"""	CLM		2563160, 2704655, 1864606	Standard	NM_002291		Approved		uc003vew.2	P07942	OTTHUMG00000149966	ENST00000222399.6:c.835G>A	7.37:g.107621098C>T	ENSP00000222399:p.Glu279Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q14D91	Missense_Mutation	SNP	pfam_EGF_laminin,pfam_Laminin_N,superfamily_Prefoldin,superfamily_t-SNARE,smart_Laminin_N,smart_EGF_laminin,smart_EG-like_dom,pfscan_Laminin_IV,pfscan_EGF_laminin,pfscan_Laminin_N	p.E279K	ENST00000222399.6	37	c.835	CCDS5750.1	7	.	.	.	.	.	.	.	.	.	.	C	33	5.251815	0.95336	.	.	ENSG00000091136	ENST00000393561;ENST00000222399;ENST00000393560	T;T;T	0.61274	0.12;0.12;0.12	5.96	5.09	0.68999	EGF-like, laminin (3);	.	.	.	.	T	0.66925	0.2839	L	0.46614	1.455	0.58432	D	0.999999	P;D;D	0.64830	0.576;0.994;0.982	B;P;P	0.60068	0.111;0.868;0.542	T	0.68194	-0.5473	9	0.49607	T	0.09	.	15.3845	0.74687	0.0:0.9333:0.0:0.0667	.	279;279;303	E7EPA6;P07942;G3XAI2	.;LAMB1_HUMAN;.	K	303;279;279	ENSP00000377191:E303K;ENSP00000222399:E279K;ENSP00000377190:E279K	ENSP00000222399:E279K	E	-	1	0	LAMB1	107408334	1.000000	0.71417	0.907000	0.35723	0.951000	0.60555	4.659000	0.61504	1.533000	0.49186	0.655000	0.94253	GAA	LAMB1	-	pfam_EGF_laminin,smart_EGF_laminin,pfscan_EGF_laminin		0.418	LAMB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LAMB1	HGNC	protein_coding	OTTHUMT00000314584.1	C	NM_002291		107621098	-1	no_errors	ENST00000222399	ensembl	human	known	70_37	missense	SNP	1.000	T
LDLRAP1	26119	genome.wustl.edu	37	1	25891673	25891673	+	Missense_Mutation	SNP	G	G	A			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr1:25891673G>A	ENST00000374338.4	+	8	876	c.757G>A	c.(757-759)Gat>Aat	p.D253N	LDLRAP1_ENST00000488127.1_3'UTR	NM_015627.2	NP_056442.2	Q5SW96	ARH_HUMAN	low density lipoprotein receptor adaptor protein 1	253	AP-2 complex binding.				amyloid precursor protein metabolic process (GO:0042982)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|positive regulation of cholesterol metabolic process (GO:0090205)|positive regulation of receptor-mediated endocytosis (GO:0048260)|positive regulation of signal transduction (GO:0009967)|receptor internalization (GO:0031623)|receptor-mediated endocytosis (GO:0006898)|receptor-mediated endocytosis of low-density lipoprotein particle involved in cholesterol transport (GO:0090118)|regulation of establishment of protein localization to plasma membrane (GO:0090003)|regulation of protein binding (GO:0043393)|transport (GO:0006810)	axon (GO:0030424)|basal plasma membrane (GO:0009925)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|early endosome (GO:0005769)|neurofilament (GO:0005883)|recycling endosome (GO:0055037)	AP-2 adaptor complex binding (GO:0035612)|beta-amyloid binding (GO:0001540)|clathrin adaptor activity (GO:0035615)|clathrin binding (GO:0030276)|low-density lipoprotein particle receptor binding (GO:0050750)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phosphotyrosine binding (GO:0001784)|receptor signaling complex scaffold activity (GO:0030159)|signaling adaptor activity (GO:0035591)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(1)|ovary(1)|skin(1)|urinary_tract(1)	9		Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.63e-26)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000728)|STAD - Stomach adenocarcinoma(196;0.000766)|BRCA - Breast invasive adenocarcinoma(304;0.000969)|GBM - Glioblastoma multiforme(114;0.00914)|READ - Rectum adenocarcinoma(331;0.0649)		GGAGCTGGATGATGGCCTGGA	0.587																																																	0													222.0	200.0	207.0					1																	25891673		2203	4300	6503	SO:0001583	missense	26119			BC029770	CCDS30639.1	1p36-p35	2014-09-17			ENSG00000157978	ENSG00000157978			18640	protein-coding gene	gene with protein product		605747					Standard	NM_015627		Approved	ARH, ARH2, FHCB1, FHCB2, MGC34705, DKFZp586D0624	uc001bkl.4	Q5SW96	OTTHUMG00000007386	ENST00000374338.4:c.757G>A	1.37:g.25891673G>A	ENSP00000363458:p.Asp253Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	A2BHI5|Q6TQS9|Q8N2Y0|Q9UFI9	Missense_Mutation	SNP	pfam_PTyr_interaction_dom,pfam_PTB,smart_PTyr_interaction_dom,pfscan_PTyr_interaction_dom	p.D253N	ENST00000374338.4	37	c.757	CCDS30639.1	1	.	.	.	.	.	.	.	.	.	.	G	27.8	4.861519	0.91433	.	.	ENSG00000157978	ENST00000374338	T	0.63913	-0.07	5.03	5.03	0.67393	.	0.000000	0.85682	D	0.000000	T	0.79387	0.4437	M	0.73962	2.25	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.992	T	0.81355	-0.0970	10	0.66056	D	0.02	-21.6518	17.5166	0.87776	0.0:0.0:1.0:0.0	.	253;253	B3KR97;Q5SW96	.;ARH_HUMAN	N	253	ENSP00000363458:D253N	ENSP00000363458:D253N	D	+	1	0	LDLRAP1	25764260	1.000000	0.71417	0.981000	0.43875	0.790000	0.44656	8.844000	0.92147	2.606000	0.88127	0.462000	0.41574	GAT	LDLRAP1	-	NULL		0.587	LDLRAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LDLRAP1	HGNC	protein_coding	OTTHUMT00000019350.3	G	NM_015627		25891673	+1	no_errors	ENST00000374338	ensembl	human	known	70_37	missense	SNP	1.000	A
LDLRAP1	26119	genome.wustl.edu	37	1	25893756	25893756	+	3'UTR	SNP	C	C	A			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr1:25893756C>A	ENST00000374338.4	+	0	1319				LDLRAP1_ENST00000488127.1_3'UTR	NM_015627.2	NP_056442.2	Q5SW96	ARH_HUMAN	low density lipoprotein receptor adaptor protein 1						amyloid precursor protein metabolic process (GO:0042982)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|positive regulation of cholesterol metabolic process (GO:0090205)|positive regulation of receptor-mediated endocytosis (GO:0048260)|positive regulation of signal transduction (GO:0009967)|receptor internalization (GO:0031623)|receptor-mediated endocytosis (GO:0006898)|receptor-mediated endocytosis of low-density lipoprotein particle involved in cholesterol transport (GO:0090118)|regulation of establishment of protein localization to plasma membrane (GO:0090003)|regulation of protein binding (GO:0043393)|transport (GO:0006810)	axon (GO:0030424)|basal plasma membrane (GO:0009925)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|early endosome (GO:0005769)|neurofilament (GO:0005883)|recycling endosome (GO:0055037)	AP-2 adaptor complex binding (GO:0035612)|beta-amyloid binding (GO:0001540)|clathrin adaptor activity (GO:0035615)|clathrin binding (GO:0030276)|low-density lipoprotein particle receptor binding (GO:0050750)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phosphotyrosine binding (GO:0001784)|receptor signaling complex scaffold activity (GO:0030159)|signaling adaptor activity (GO:0035591)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(1)|ovary(1)|skin(1)|urinary_tract(1)	9		Colorectal(325;3.46e-05)|Lung NSC(340;0.000245)|all_lung(284;0.000335)|Renal(390;0.0007)|Ovarian(437;0.00473)|Breast(348;0.0155)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.63e-26)|Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000728)|STAD - Stomach adenocarcinoma(196;0.000766)|BRCA - Breast invasive adenocarcinoma(304;0.000969)|GBM - Glioblastoma multiforme(114;0.00914)|READ - Rectum adenocarcinoma(331;0.0649)		TCTCCTGCTGCGTGACATGTG	0.522																																																	0																																										SO:0001624	3_prime_UTR_variant	26119			BC029770	CCDS30639.1	1p36-p35	2014-09-17			ENSG00000157978	ENSG00000157978			18640	protein-coding gene	gene with protein product		605747					Standard	NM_015627		Approved	ARH, ARH2, FHCB1, FHCB2, MGC34705, DKFZp586D0624	uc001bkl.4	Q5SW96	OTTHUMG00000007386	ENST00000374338.4:c.*273C>A	1.37:g.25893756C>A		Somatic		WXS	Illumina HiSeq	Phase_IV	A2BHI5|Q6TQS9|Q8N2Y0|Q9UFI9	RNA	SNP	-	NULL	ENST00000374338.4	37	NULL	CCDS30639.1	1																																																																																			LDLRAP1	-	-		0.522	LDLRAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LDLRAP1	HGNC	protein_coding	OTTHUMT00000019350.3	C	NM_015627		25893756	+1	no_errors	ENST00000470950	ensembl	human	known	70_37	rna	SNP	0.000	A
LGI4	163175	genome.wustl.edu	37	19	35625473	35625473	+	Missense_Mutation	SNP	C	C	T			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr19:35625473C>T	ENST00000310123.3	-	1	631	c.112G>A	c.(112-114)Gcc>Acc	p.A38T	LGI4_ENST00000493050.1_Intron|LGI4_ENST00000591633.1_Missense_Mutation_p.A38T|LGI4_ENST00000392225.3_Missense_Mutation_p.A38T	NM_139284.2	NP_644813.1	Q8N135	LGI4_HUMAN	leucine-rich repeat LGI family, member 4	38					adult locomotory behavior (GO:0008344)|glial cell proliferation (GO:0014009)|myelination in peripheral nervous system (GO:0022011)|neuron maturation (GO:0042551)	extracellular space (GO:0005615)				endometrium(1)|large_intestine(1)|lung(4)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10	all_lung(56;7.56e-09)|Lung NSC(56;1.1e-08)|Esophageal squamous(110;0.162)		Epithelial(14;5.54e-20)|OV - Ovarian serous cystadenocarcinoma(14;1.33e-18)|all cancers(14;4.27e-17)|LUSC - Lung squamous cell carcinoma(66;0.0849)			TCACACAGGGCGCTGTCTTTA	0.652																																																	0													39.0	40.0	39.0					19																	35625473		2190	4295	6485	SO:0001583	missense	163175			AJ487519	CCDS12444.1	19q13.13	2008-07-03			ENSG00000153902	ENSG00000153902			18712	protein-coding gene	gene with protein product		608303				12023020	Standard	NM_139284		Approved		uc002nxx.2	Q8N135	OTTHUMG00000044558	ENST00000310123.3:c.112G>A	19.37:g.35625473C>T	ENSP00000312273:p.Ala38Thr	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RN53|B9EGS7|Q5M8T1	Missense_Mutation	SNP	pfam_EPTP,pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,pfscan_EAR	p.A38T	ENST00000310123.3	37	c.112	CCDS12444.1	19	.	.	.	.	.	.	.	.	.	.	C	17.39	3.377475	0.61735	.	.	ENSG00000153902	ENST00000310123;ENST00000392225;ENST00000437421	T;T	0.64260	-0.09;0.07	5.15	2.93	0.34026	.	0.226096	0.29892	N	0.010930	T	0.45094	0.1325	L	0.32530	0.975	0.29618	N	0.846398	P;B	0.49635	0.926;0.036	B;B	0.40477	0.33;0.013	T	0.46735	-0.9170	10	0.49607	T	0.09	.	5.5109	0.16880	0.1973:0.6978:0.0:0.1049	.	38;38	Q8N135-2;Q8N135	.;LGI4_HUMAN	T	38	ENSP00000312273:A38T;ENSP00000376059:A38T	ENSP00000312273:A38T	A	-	1	0	LGI4	40317313	1.000000	0.71417	0.780000	0.31762	0.948000	0.59901	4.874000	0.63064	0.495000	0.27882	0.591000	0.81541	GCC	LGI4	-	NULL		0.652	LGI4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LGI4	HGNC	protein_coding	OTTHUMT00000103963.1	C			35625473	-1	no_errors	ENST00000310123	ensembl	human	known	70_37	missense	SNP	0.978	T
LGR5	8549	genome.wustl.edu	37	12	71972642	71972642	+	Missense_Mutation	SNP	C	C	G			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr12:71972642C>G	ENST00000266674.5	+	15	1650	c.1339C>G	c.(1339-1341)Cac>Gac	p.H447D	LGR5_ENST00000536515.1_Missense_Mutation_p.H375D|LGR5_ENST00000540815.2_Missense_Mutation_p.H423D			O75473	LGR5_HUMAN	leucine-rich repeat containing G protein-coupled receptor 5	447					G-protein coupled receptor signaling pathway (GO:0007186)|inner ear development (GO:0048839)|positive regulation of canonical Wnt signaling pathway (GO:0090263)	integral component of plasma membrane (GO:0005887)|trans-Golgi network membrane (GO:0032588)	G-protein coupled receptor activity (GO:0004930)|transmembrane signaling receptor activity (GO:0004888)		NUP107/LGR5(2)	endometrium(2)|kidney(3)|large_intestine(2)|lung(24)|ovary(1)|pancreas(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	48						TGGTTTAACTCACTTAAAATT	0.353																																																	0													156.0	149.0	151.0					12																	71972642		2203	4300	6503	SO:0001583	missense	8549			AF062006	CCDS9000.1, CCDS61194.1, CCDS61195.1	12q22-q23	2012-08-21	2011-01-25	2004-11-12				"""GPCR / Class A : Orphans"""	4504	protein-coding gene	gene with protein product		606667	"""G protein-coupled receptor 49"", ""leucine-rich repeat-containing G protein-coupled receptor 5"""	GPR67, GPR49		9642114	Standard	NM_003667		Approved	HG38, FEX	uc001swl.4	O75473	OTTHUMG00000169543	ENST00000266674.5:c.1339C>G	12.37:g.71972642C>G	ENSP00000266674:p.His447Asp	Somatic		WXS	Illumina HiSeq	Phase_IV	D8MCT0|Q4VAM0|Q4VAM2|Q9UP75	Missense_Mutation	SNP	pfam_Leu-rich_rpt,pfam_GPCR_Rhodpsn,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,pfscan_GPCR_Rhodpsn_7TM,prints_Gphrmn_rcpt,prints_GPCR_Rhodpsn	p.H447D	ENST00000266674.5	37	c.1339	CCDS9000.1	12	.	.	.	.	.	.	.	.	.	.	C	26.0	4.694316	0.88830	.	.	ENSG00000139292	ENST00000266674;ENST00000451585;ENST00000536515;ENST00000540815	T;T;T	0.24723	5.49;1.84;1.84	5.84	5.84	0.93424	.	0.000000	0.64402	D	0.000002	T	0.58337	0.2115	M	0.85197	2.74	0.58432	D	0.999993	D;D	0.67145	0.995;0.996	D;D	0.70487	0.969;0.933	T	0.62642	-0.6811	10	0.87932	D	0	.	20.1438	0.98071	0.0:1.0:0.0:0.0	.	423;447	O75473-2;O75473	.;LGR5_HUMAN	D	447;447;375;423	ENSP00000266674:H447D;ENSP00000443033:H375D;ENSP00000441035:H423D	ENSP00000266674:H447D	H	+	1	0	LGR5	70258909	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.135000	0.64777	2.768000	0.95171	0.650000	0.86243	CAC	LGR5	-	NULL		0.353	LGR5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LGR5	HGNC	protein_coding	OTTHUMT00000404744.1	C	NM_003667		71972642	+1	no_errors	ENST00000266674	ensembl	human	known	70_37	missense	SNP	1.000	G
LGR5	8549	genome.wustl.edu	37	12	71972644	71972644	+	Missense_Mutation	SNP	C	C	A			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr12:71972644C>A	ENST00000266674.5	+	15	1652	c.1341C>A	c.(1339-1341)caC>caA	p.H447Q	LGR5_ENST00000536515.1_Missense_Mutation_p.H375Q|LGR5_ENST00000540815.2_Missense_Mutation_p.H423Q			O75473	LGR5_HUMAN	leucine-rich repeat containing G protein-coupled receptor 5	447					G-protein coupled receptor signaling pathway (GO:0007186)|inner ear development (GO:0048839)|positive regulation of canonical Wnt signaling pathway (GO:0090263)	integral component of plasma membrane (GO:0005887)|trans-Golgi network membrane (GO:0032588)	G-protein coupled receptor activity (GO:0004930)|transmembrane signaling receptor activity (GO:0004888)		NUP107/LGR5(2)	endometrium(2)|kidney(3)|large_intestine(2)|lung(24)|ovary(1)|pancreas(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	48						GTTTAACTCACTTAAAATTAA	0.353																																																	0													152.0	144.0	147.0					12																	71972644		2203	4300	6503	SO:0001583	missense	8549			AF062006	CCDS9000.1, CCDS61194.1, CCDS61195.1	12q22-q23	2012-08-21	2011-01-25	2004-11-12				"""GPCR / Class A : Orphans"""	4504	protein-coding gene	gene with protein product		606667	"""G protein-coupled receptor 49"", ""leucine-rich repeat-containing G protein-coupled receptor 5"""	GPR67, GPR49		9642114	Standard	NM_003667		Approved	HG38, FEX	uc001swl.4	O75473	OTTHUMG00000169543	ENST00000266674.5:c.1341C>A	12.37:g.71972644C>A	ENSP00000266674:p.His447Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	D8MCT0|Q4VAM0|Q4VAM2|Q9UP75	Missense_Mutation	SNP	pfam_Leu-rich_rpt,pfam_GPCR_Rhodpsn,pfam_LRR-contain_N,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,pfscan_GPCR_Rhodpsn_7TM,prints_Gphrmn_rcpt,prints_GPCR_Rhodpsn	p.H447Q	ENST00000266674.5	37	c.1341	CCDS9000.1	12	.	.	.	.	.	.	.	.	.	.	C	13.82	2.351232	0.41700	.	.	ENSG00000139292	ENST00000266674;ENST00000451585;ENST00000536515;ENST00000540815	T;T;T	0.24538	5.5;1.85;1.85	5.84	4.94	0.65067	.	0.000000	0.64402	D	0.000002	T	0.23133	0.0559	L	0.54323	1.7	0.42263	D	0.992025	P;P	0.37276	0.542;0.589	B;B	0.40375	0.327;0.175	T	0.02789	-1.1110	10	0.22109	T	0.4	.	5.5984	0.17339	0.0:0.7405:0.0:0.2595	.	423;447	O75473-2;O75473	.;LGR5_HUMAN	Q	447;447;375;423	ENSP00000266674:H447Q;ENSP00000443033:H375Q;ENSP00000441035:H423Q	ENSP00000266674:H447Q	H	+	3	2	LGR5	70258911	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.399000	0.34566	2.768000	0.95171	0.650000	0.86243	CAC	LGR5	-	NULL		0.353	LGR5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LGR5	HGNC	protein_coding	OTTHUMT00000404744.1	C	NM_003667		71972644	+1	no_errors	ENST00000266674	ensembl	human	known	70_37	missense	SNP	1.000	A
LHX6	26468	genome.wustl.edu	37	9	124989703	124989703	+	Silent	SNP	G	G	A			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr9:124989703G>A	ENST00000373755.2	-	1	162	c.54C>T	c.(52-54)acC>acT	p.T18T	LHX6_ENST00000541397.2_Silent_p.T36T|LHX6_ENST00000340587.3_Silent_p.T47T|LHX6_ENST00000559529.1_5'UTR|LHX6_ENST00000373754.2_Silent_p.T18T|LHX6_ENST00000394319.4_Silent_p.T47T	NM_001242334.1	NP_001229263.1	Q9UPM6	LHX6_HUMAN	LIM homeobox 6	18					cell maturation (GO:0048469)|cerebral cortex GABAergic interneuron migration (GO:0021853)|cerebral cortex radially oriented cell migration (GO:0021799)|cerebral cortex tangential migration (GO:0021800)|forebrain neuron fate commitment (GO:0021877)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(1)|large_intestine(5)	8						CGGGCGGCGCGGTCCCTTCAA	0.721																																																	0													8.0	11.0	10.0					9																	124989703		2105	4097	6202	SO:0001819	synonymous_variant	26468			AB031041	CCDS6837.2, CCDS6838.2, CCDS56583.1, CCDS56584.1, CCDS59144.1	9q33.2	2011-06-20			ENSG00000106852	ENSG00000106852		"""Homeoboxes / LIM class"""	21735	protein-coding gene	gene with protein product		608215				10393337	Standard	NM_014368		Approved	LHX6.1	uc004blx.4	Q9UPM6	OTTHUMG00000020601	ENST00000373755.2:c.54C>T	9.37:g.124989703G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	A6PVQ1|A6PVQ2|A8K1B2|B7Z4D0|H0YN76|Q5T7S7|Q5T7S8|Q9NTK3|Q9UPM5	Silent	SNP	pfam_Znf_LIM,pfam_Homeodomain,superfamily_Homeodomain-like,smart_Znf_LIM,smart_Homeodomain,pfscan_Znf_LIM,pfscan_Homeodomain	p.T47	ENST00000373755.2	37	c.141	CCDS56583.1	9																																																																																			LHX6	-	NULL		0.721	LHX6-002	KNOWN	not_organism_supported|basic|CCDS	protein_coding	LHX6	HGNC	protein_coding	OTTHUMT00000053924.2	G	NM_014368		124989703	-1	no_errors	ENST00000394319	ensembl	human	known	70_37	silent	SNP	1.000	A
LIMK2	3985	genome.wustl.edu	37	22	31668596	31668596	+	Silent	SNP	C	C	A			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr22:31668596C>A	ENST00000331728.4	+	13	1578	c.1464C>A	c.(1462-1464)gcC>gcA	p.A488A	LIMK2_ENST00000333611.4_Silent_p.A467A|LIMK2_ENST00000406516.1_Silent_p.A410A|LIMK2_ENST00000444929.2_Silent_p.A242A|LIMK2_ENST00000340552.4_Silent_p.A467A	NM_005569.3	NP_005560.1	P53671	LIMK2_HUMAN	LIM domain kinase 2	488	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				phosphorylation (GO:0016310)|spermatogenesis (GO:0007283)	cis-Golgi network (GO:0005801)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|zinc ion binding (GO:0008270)			endometrium(7)|kidney(3)|large_intestine(6)|lung(6)|ovary(2)|prostate(4)|skin(1)	29						TGGAGAAGGCCACCACCAAGA	0.567																																																	0													99.0	91.0	94.0					22																	31668596		2203	4300	6503	SO:0001819	synonymous_variant	3985			D45906	CCDS13891.1, CCDS13892.1, CCDS33637.1	22q12	2005-01-21			ENSG00000182541	ENSG00000182541			6614	protein-coding gene	gene with protein product		601988				8537403, 10591208	Standard	NM_005569		Approved		uc003akh.3	P53671	OTTHUMG00000151251	ENST00000331728.4:c.1464C>A	22.37:g.31668596C>A		Somatic		WXS	Illumina HiSeq	Phase_IV	A8K6H5|Q7KZ80|Q7L3H5|Q96E10|Q99464|Q9UFU0	Silent	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Znf_LIM,pfam_PDZ,superfamily_Kinase-like_dom,superfamily_PDZ,smart_Znf_LIM,smart_PDZ,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Znf_LIM,pfscan_PDZ,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.A488	ENST00000331728.4	37	c.1464	CCDS13891.1	22																																																																																			LIMK2	-	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom		0.567	LIMK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LIMK2	HGNC	protein_coding	OTTHUMT00000321911.1	C	NM_016733		31668596	+1	no_errors	ENST00000331728	ensembl	human	known	70_37	silent	SNP	0.010	A
LIN7A	8825	genome.wustl.edu	37	12	81283066	81283066	+	Missense_Mutation	SNP	T	T	A			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr12:81283066T>A	ENST00000552864.1	-	2	367	c.165A>T	c.(163-165)aaA>aaT	p.K55N		NM_004664.2	NP_004655.1	O14910	LIN7A_HUMAN	lin-7 homolog A (C. elegans)	55	L27. {ECO:0000255|PROSITE- ProRule:PRU00365}.				exocytosis (GO:0006887)|inner ear development (GO:0048839)|neurotransmitter secretion (GO:0007269)|protein complex assembly (GO:0006461)|protein transport (GO:0015031)|synaptic vesicle transport (GO:0048489)	basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|neuron projection (GO:0043005)|postsynaptic membrane (GO:0045211)|tight junction (GO:0005923)	L27 domain binding (GO:0097016)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|skin(2)	15						TCTGAAGCACTTTTTTGAGGG	0.348																																																	0													129.0	114.0	119.0					12																	81283066		2202	4299	6501	SO:0001583	missense	8825			AF028826	CCDS9021.1	12q21.31	2014-09-04			ENSG00000111052	ENSG00000111052			17787	protein-coding gene	gene with protein product	"""mammalian LIN-7 1"""	603380				10341223, 17237226	Standard	NM_004664		Approved	MALS-1, TIP-33, LIN-7A, VELI1	uc001szj.1	O14910	OTTHUMG00000170168	ENST00000552864.1:c.165A>T	12.37:g.81283066T>A	ENSP00000447488:p.Lys55Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	A4FTY3|Q147W1|Q6LES3|Q7LDS4	Missense_Mutation	SNP	pfam_PDZ,pfam_L27_C,superfamily_PDZ,smart_L27,smart_PDZ,pirsf_Lin-7_homologue,pfscan_L27,pfscan_PDZ	p.K55N	ENST00000552864.1	37	c.165	CCDS9021.1	12	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	17.88|17.88	3.496441|3.496441	0.64186|0.64186	.|.	.|.	ENSG00000111052|ENSG00000111052	ENST00000552093|ENST00000552864;ENST00000549417	T|T;T	0.31247|0.28255	1.5|2.12;1.62	5.48|5.48	1.27|1.27	0.21489|0.21489	.|L27, C-terminal (1);L27 (2);	0.000000|0.000000	0.85682|0.85682	D|D	0.000000|0.000000	T|T	0.22513|0.22513	0.0543|0.0543	L|L	0.38175|0.38175	1.15|1.15	0.80722|0.80722	D|D	1|1	.|B	.|0.19583	.|0.037	.|B	.|0.21360	.|0.034	T|T	0.06320|0.06320	-1.0833|-1.0833	8|10	0.72032|0.54805	D|T	0.01|0.06	-19.8574|-19.8574	9.4638|9.4638	0.38800|0.38800	0.0:0.4339:0.0:0.5661|0.0:0.4339:0.0:0.5661	.|.	.|55	.|O14910	.|LIN7A_HUMAN	M|N	21|55;49	ENSP00000448891:K21M|ENSP00000447488:K55N;ENSP00000448975:K49N	ENSP00000448891:K21M|ENSP00000261203:K55N	K|K	-|-	2|3	0|2	LIN7A|LIN7A	79807197|79807197	0.998000|0.998000	0.40836|0.40836	1.000000|1.000000	0.80357|0.80357	0.985000|0.985000	0.73830|0.73830	0.485000|0.485000	0.22324|0.22324	0.252000|0.252000	0.21531|0.21531	0.373000|0.373000	0.22412|0.22412	AAG|AAA	LIN7A	-	pfam_L27_C,smart_L27,pirsf_Lin-7_homologue,pfscan_L27		0.348	LIN7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LIN7A	HGNC	protein_coding	OTTHUMT00000407760.1	T			81283066	-1	no_errors	ENST00000552864	ensembl	human	known	70_37	missense	SNP	1.000	A
LIN9	286826	genome.wustl.edu	37	1	226420843	226420843	+	Missense_Mutation	SNP	C	C	G			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr1:226420843C>G	ENST00000328205.5	-	14	2070	c.1525G>C	c.(1525-1527)Gac>Cac	p.D509H	LIN9_ENST00000366801.1_Missense_Mutation_p.D458H|LIN9_ENST00000481685.1_Missense_Mutation_p.D474H	NM_173083.3	NP_775106.2	Q5TKA1	LIN9_HUMAN	lin-9 DREAM MuvB core complex component	493					DNA replication (GO:0006260)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|regulation of cell cycle (GO:0051726)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)|transcriptional repressor complex (GO:0017053)				breast(3)|endometrium(4)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28	Breast(184;0.158)			GBM - Glioblastoma multiforme(131;0.131)		TTTAATGAGTCTGTAAGTGAT	0.294																																					Ovarian(197;1696 2974 11248 14117)												0													74.0	83.0	80.0					1																	226420843		2202	4291	6493	SO:0001583	missense	286826			AY166858	CCDS1553.1	1q42	2014-07-17	2014-07-17		ENSG00000183814	ENSG00000183814			30830	protein-coding gene	gene with protein product	"""TUDOR gene similar"", ""rb related pathway actor"""	609375	"""lin-9 homolog (C. elegans)"""			15538385, 23667535	Standard	NM_173083		Approved	TGS	uc001hqa.3	Q5TKA1	OTTHUMG00000037557	ENST00000328205.5:c.1525G>C	1.37:g.226420843C>G	ENSP00000329102:p.Asp509His	Somatic		WXS	Illumina HiSeq	Phase_IV	Q5U5L8|Q5U7E1|Q6PI55|Q6ZTV4|Q7Z3J1	Missense_Mutation	SNP	pfam_DIRP	p.D509H	ENST00000328205.5	37	c.1525	CCDS1553.1	1	.	.	.	.	.	.	.	.	.	.	C	16.72	3.202580	0.58234	.	.	ENSG00000183814	ENST00000460719;ENST00000328205;ENST00000366808;ENST00000366801;ENST00000481685	.	.	.	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	T	0.76863	0.4047	M	0.64997	1.995	0.80722	D	1	D;D;D	0.76494	0.999;0.998;0.965	D;D;P	0.64144	0.921;0.922;0.795	T	0.78411	-0.2214	9	0.72032	D	0.01	.	19.4424	0.94825	0.0:1.0:0.0:0.0	.	474;493;643	C9J5J4;Q5TKA1;B1ANK3	.;LIN9_HUMAN;.	H	469;509;564;458;474	.	ENSP00000329102:D509H	D	-	1	0	LIN9	224487466	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.546000	0.67243	2.599000	0.87857	0.655000	0.94253	GAC	LIN9	-	NULL		0.294	LIN9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LIN9	HGNC	protein_coding	OTTHUMT00000091523.2	C	NM_173083		226420843	-1	no_errors	ENST00000328205	ensembl	human	known	70_37	missense	SNP	1.000	G
ZNF512B	57473	genome.wustl.edu	37	20	62669271	62669271	+	Intron	SNP	C	C	T			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr20:62669271C>T	ENST00000450537.1	-	1	56				ZNF512B_ENST00000217130.3_Intron|LINC00176_ENST00000444463.1_lincRNA			Q96KM6	Z512B_HUMAN	zinc finger protein 512B						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(16)|ovary(1)|prostate(4)|skin(1)	33	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)					AACCTGCTGTCTCCTCCAGGT	0.692																																																	0																																										SO:0001627	intron_variant	284739			AB033022	CCDS13548.1	20q13.33	2011-02-09			ENSG00000196700	ENSG00000196700			29212	protein-coding gene	gene with protein product						10574462	Standard	NM_020713		Approved	GM632, MGC149845, MGC149846	uc002yhl.2	Q96KM6	OTTHUMG00000033008	ENST00000450537.1:c.4+10786G>A	20.37:g.62669271C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q08AK9|Q9ULM4	RNA	SNP	-	NULL	ENST00000450537.1	37	NULL	CCDS13548.1	20																																																																																			LINC00176	-	-		0.692	ZNF512B-202	KNOWN	basic|appris_principal|CCDS	protein_coding	LINC00176	HGNC	protein_coding	OTTHUMT00000080246.1	C	NM_020713		62669271	+1	no_errors	ENST00000431158	ensembl	human	known	70_37	rna	SNP	0.000	T
LINC00221	338005	genome.wustl.edu	37	14	106950293	106950293	+	lincRNA	SNP	C	C	T			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr14:106950293C>T	ENST00000334298.3	+	0	488					NR_027457.2				long intergenic non-protein coding RNA 221																		GTCACCCTTGCAATGTGTTCC	0.498																																																	0																																												338005			AK058096		14q32.33	2013-05-31	2011-08-11	2011-08-11	ENSG00000187156	ENSG00000270816		"""Long non-coding RNAs"""	20169	non-coding RNA	RNA, long non-coding			"""chromosome 14 open reading frame 98"", ""non-protein coding RNA 221"""	C14orf98, NCRNA00221			Standard	NR_027457		Approved		uc001ysy.2		OTTHUMG00000152084		14.37:g.106950293C>T		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000334298.3	37	NULL		14																																																																																			LINC00221	-	-		0.498	LINC00221-002	KNOWN	basic	lincRNA	LINC00221	HGNC	lincRNA	OTTHUMT00000325180.1	C	NR_027457		106950293	+1	no_errors	ENST00000334298	ensembl	human	known	70_37	rna	SNP	0.000	T
LINC00346	283487	genome.wustl.edu	37	13	111521724	111521724	+	Silent	SNP	C	C	T	rs554280751		TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr13:111521724C>T	ENST00000538077.1	-	1	438	c.414G>A	c.(412-414)acG>acA	p.T138T				Q8IVM7	CM029_HUMAN	long intergenic non-protein coding RNA 346	138																	ACAGCTGGGGCGTGCCCCTCG	0.542													C|||	1	0.000199681	0.0	0.0	5008	,	,		19970	0.001		0.0	False		,,,				2504	0.0																0													57.0	56.0	56.0					13																	111521724		692	1591	2283	SO:0001819	synonymous_variant	283487					13q34	2014-06-17	2011-08-10	2011-08-10	ENSG00000255874	ENSG00000255874		"""Long non-coding RNAs"""	27492	non-coding RNA	RNA, long non-coding			"""chromosome 13 open reading frame 29"", ""non-protein coding RNA 346"""	C13orf29, NCRNA00346			Standard	NR_027701		Approved		uc001vrk.2	Q8IVM7	OTTHUMG00000187398	ENST00000538077.1:c.414G>A	13.37:g.111521724C>T		Somatic		WXS	Illumina HiSeq	Phase_IV		Silent	SNP	NULL	p.T138	ENST00000538077.1	37	c.414		13																																																																																			LINC00346	-	NULL		0.542	LINC00346-201	KNOWN	basic|appris_principal	protein_coding	LINC00346	HGNC	protein_coding		C	NR_027701		111521724	-1	no_errors	ENST00000538077	ensembl	human	known	70_37	silent	SNP	0.009	T
LINC00461	645323	genome.wustl.edu	37	5	87963191	87963191	+	lincRNA	SNP	G	G	A			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr5:87963191G>A	ENST00000384838.1	-	0	0					NR_030741.1				long intergenic non-protein coding RNA 461																		AGGTTAAGGAGGAAGGAAAAA	0.418																																																	0																																												645323					5q14.3	2014-01-14			ENSG00000245526	ENSG00000245526		"""Long non-coding RNAs"""	42810	non-coding RNA	RNA, long non-coding							Standard	NR_015436		Approved	EyeLinc1, Visc-1a, Visc-1b	uc003kjg.3		OTTHUMG00000162632		5.37:g.87963191G>A		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000384838.1	37	NULL		5																																																																																			LINC00461	-	-		0.418	LINC00461-201	KNOWN	basic	miRNA	LINC00461	HGNC	lincRNA		G			87963191	-1	no_errors	ENST00000500197	ensembl	human	known	70_37	rna	SNP	0.985	A
LINGO4	339398	genome.wustl.edu	37	1	151774280	151774280	+	Missense_Mutation	SNP	G	G	A	rs369398419		TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr1:151774280G>A	ENST00000368820.3	-	2	1838	c.901C>T	c.(901-903)Cgg>Tgg	p.R301W		NM_001004432.2	NP_001004432.1	Q6UY18	LIGO4_HUMAN	leucine rich repeat and Ig domain containing 4	301						integral component of membrane (GO:0016021)				breast(2)|cervix(1)|endometrium(4)|large_intestine(5)|lung(4)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	21	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			TCCTGGAGCCGCACCAGGGGG	0.612																																																	0													55.0	60.0	58.0					1																	151774280		2203	4300	6503	SO:0001583	missense	339398				CCDS30855.1	1q21.3	2013-01-11	2007-02-01	2007-02-01	ENSG00000213171	ENSG00000213171		"""Immunoglobulin superfamily / I-set domain containing"""	31814	protein-coding gene	gene with protein product		609794	"""leucine rich repeat neuronal 6D"""	LRRN6D			Standard	NM_001004432		Approved		uc001ezf.1	Q6UY18	OTTHUMG00000013059	ENST00000368820.3:c.901C>T	1.37:g.151774280G>A	ENSP00000357810:p.Arg301Trp	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_Leu-rich_rpt,pfam_Ig_I-set,pfam_Ig_V-set,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.R301W	ENST00000368820.3	37	c.901	CCDS30855.1	1	.	.	.	.	.	.	.	.	.	.	G	17.38	3.374743	0.61735	.	.	ENSG00000213171	ENST00000368820	T	0.58940	0.3	5.51	5.51	0.81932	.	0.000000	0.45126	D	0.000381	T	0.68238	0.2979	M	0.70108	2.13	0.53688	D	0.999974	D	0.89917	1.0	D	0.97110	1.0	T	0.71059	-0.4702	10	0.87932	D	0	.	11.7875	0.52051	0.0:0.0:0.8251:0.1749	.	301	Q6UY18	LIGO4_HUMAN	W	301	ENSP00000357810:R301W	ENSP00000357810:R301W	R	-	1	2	LINGO4	150040904	0.982000	0.34865	0.999000	0.59377	0.953000	0.61014	1.716000	0.37981	2.873000	0.98535	0.561000	0.74099	CGG	LINGO4	-	smart_Leu-rich_rpt_typical-subtyp		0.612	LINGO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LINGO4	HGNC	protein_coding	OTTHUMT00000036639.1	G	XM_291387		151774280	-1	no_errors	ENST00000368820	ensembl	human	known	70_37	missense	SNP	0.996	A
LMAN2L	81562	genome.wustl.edu	37	2	97377743	97377743	+	Missense_Mutation	SNP	G	G	A			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr2:97377743G>A	ENST00000264963.4	-	5	549	c.527C>T	c.(526-528)tCa>tTa	p.S176L	LMAN2L_ENST00000426463.2_Missense_Mutation_p.S42L|LMAN2L_ENST00000377079.4_Missense_Mutation_p.S187L|LMAN2L_ENST00000534882.1_Missense_Mutation_p.S31L|LMAN2L_ENST00000537039.1_Missense_Mutation_p.S38L	NM_030805.3	NP_110432.1	Q9H0V9	LMA2L_HUMAN	lectin, mannose-binding 2-like	176	L-type lectin-like. {ECO:0000255|PROSITE- ProRule:PRU00658}.				ER to Golgi vesicle-mediated transport (GO:0006888)|protein folding (GO:0006457)|protein transport (GO:0015031)	endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle (GO:0030134)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	mannose binding (GO:0005537)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(1)|lung(2)|skin(1)|urinary_tract(1)	7						CACCATGGCTGAGATGTAGGG	0.542																																																	0													57.0	56.0	56.0					2																	97377743		2203	4300	6503	SO:0001583	missense	81562			AL136617	CCDS2023.1, CCDS46365.1	2q11.1	2008-02-05			ENSG00000114988	ENSG00000114988			19263	protein-coding gene	gene with protein product		609552				12609988	Standard	NM_001142292		Approved	DKFZp564L2423, VIPL	uc002swv.3	Q9H0V9	OTTHUMG00000130453	ENST00000264963.4:c.527C>T	2.37:g.97377743G>A	ENSP00000264963:p.Ser176Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	B4DSH3|D3DXH6|Q53GV3|Q53S67|Q63HN6|Q8NBQ6|Q9BQ14	Nonsense_Mutation	SNP	NULL	p.Q109*	ENST00000264963.4	37	c.325	CCDS2023.1	2	.	.	.	.	.	.	.	.	.	.	G	33	5.282028	0.95489	.	.	ENSG00000114988	ENST00000264963;ENST00000377079;ENST00000426463;ENST00000537039;ENST00000534882	T;T;T;T;T	0.65178	-0.14;-0.14;-0.14;-0.14;-0.14	6.17	6.17	0.99709	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);	0.070621	0.64402	D	0.000013	T	0.74291	0.3697	L	0.52364	1.645	0.58432	D	0.999999	P;D;P;D;P	0.89917	0.936;0.963;0.936;1.0;0.936	P;D;P;D;P	0.75020	0.761;0.924;0.761;0.985;0.829	T	0.65207	-0.6224	10	0.18276	T	0.48	.	19.6509	0.95805	0.0:0.0:1.0:0.0	.	31;49;42;187;176	B4DVH1;B4DI83;B4DSH3;Q9H0V9-2;Q9H0V9	.;.;.;.;LMA2L_HUMAN	L	176;187;42;38;31	ENSP00000264963:S176L;ENSP00000366280:S187L;ENSP00000396391:S42L;ENSP00000441701:S38L;ENSP00000438501:S31L	ENSP00000264963:S176L	S	-	2	0	LMAN2L	96741470	1.000000	0.71417	0.997000	0.53966	0.991000	0.79684	6.366000	0.73095	2.941000	0.99782	0.655000	0.94253	TCA	LMAN2L	-	NULL		0.542	LMAN2L-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	LMAN2L	HGNC	protein_coding	OTTHUMT00000252844.1	G	NM_030805		97377743	-1	no_errors	ENST00000440610	ensembl	human	known	70_37	nonsense	SNP	1.000	A
LMBR1L	55716	genome.wustl.edu	37	12	49504305	49504305	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr12:49504305G>A	ENST00000267102.8	-	1	376	c.34C>T	c.(34-36)Cga>Tga	p.R12*	LMBR1L_ENST00000553204.1_5'UTR|LMBR1L_ENST00000547382.1_Nonsense_Mutation_p.R12*	NM_018113.2	NP_060583.2	Q6UX01	LMBRL_HUMAN	limb development membrane protein 1-like	12	LCN1-binding.				endocytosis (GO:0006897)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(2)|kidney(2)|large_intestine(1)|lung(5)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						AGCTGTTCTCGCACGGATAGC	0.647																																																	0													80.0	83.0	82.0					12																	49504305		1984	4155	6139	SO:0001587	stop_gained	55716			AB033000	CCDS8780.2, CCDS73466.1	12q13.12	2013-08-05	2013-08-05		ENSG00000139636	ENSG00000139636			18268	protein-coding gene	gene with protein product		610007	"""limb region 1 homolog (mouse)-like"""			10574461, 11287427	Standard	XM_005269022		Approved	FLJ10494, KIAA1174	uc001rth.4	Q6UX01	OTTHUMG00000150511	ENST00000267102.8:c.34C>T	12.37:g.49504305G>A	ENSP00000267102:p.Arg12*	Somatic		WXS	Illumina HiSeq	Phase_IV	Q969J4|Q96BY8|Q96HN8|Q9NT09|Q9NVE1|Q9NVU9|Q9ULP6	Nonsense_Mutation	SNP	pfam_LMBR1-like_membr_prot,prints_Lipcalin_1_rcpt	p.R12*	ENST00000267102.8	37	c.34	CCDS8780.2	12	.	.	.	.	.	.	.	.	.	.	G	38	6.671328	0.97751	.	.	ENSG00000139636	ENST00000267102;ENST00000547382;ENST00000547675;ENST00000550137;ENST00000551782	.	.	.	5.56	5.56	0.83823	.	0.188342	0.43579	D	0.000546	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	16.4441	0.83910	0.0:0.0:1.0:0.0	.	.	.	.	X	12	.	ENSP00000267102:R12X	R	-	1	2	LMBR1L	47790572	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	5.593000	0.67550	2.596000	0.87737	0.563000	0.77884	CGA	LMBR1L	-	NULL		0.647	LMBR1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LMBR1L	HGNC	protein_coding	OTTHUMT00000318696.1	G	NM_018113		49504305	-1	no_errors	ENST00000267102	ensembl	human	known	70_37	nonsense	SNP	1.000	A
SMG1P7	100506060	genome.wustl.edu	37	16	70254724	70254724	+	RNA	SNP	G	G	A			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr16:70254724G>A	ENST00000581050.1	-	0	1495					NR_033959.1																						TGTTAAAGTAGAAAGTCTCAG	0.368																																																	0																																												100506060																															16.37:g.70254724G>A		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000581050.1	37	NULL		16																																																																																			RP11-296I10.6	-	-		0.368	RP11-296I10.6-006	KNOWN	basic	processed_transcript	LOC100506060	Clone_based_vega_gene	pseudogene	OTTHUMT00000441629.1	G			70254724	-1	no_errors	ENST00000573141	ensembl	human	known	70_37	rna	SNP	1.000	A
LINC01410	103352539	genome.wustl.edu	37	9	66466210	66466210	+	lincRNA	SNP	C	C	T			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr9:66466210C>T	ENST00000424345.1	+	0	843																											acctgagtgactctctcctag	0.438																																																	0																																												100996870																															9.37:g.66466210C>T		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000424345.1	37	NULL		9																																																																																			RP11-262H14.1	-	-		0.438	RP11-262H14.1-001	KNOWN	basic	lincRNA	LOC100996870	Clone_based_vega_gene	lincRNA	OTTHUMT00000128851.1	C			66466210	+1	no_errors	ENST00000424345	ensembl	human	known	70_37	rna	SNP	0.122	T
Unknown	0	genome.wustl.edu	37	16	21531445	21531445	+	IGR	SNP	G	G	A			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr16:21531445G>A								MIR3680-1 (13989 upstream) : SCARNA6 (67502 downstream)																							CAGCCCCGGCGAGCCTGCCTC	0.682																																																	0																																										SO:0001628	intergenic_variant	101060596																															16.37:g.21531445G>A		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL		37	NULL		16																																																																																			CTD-2547E10.2	-	-	0	0.682					LOC101060596	Clone_based_vega_gene			G			21531445	-1	no_errors	ENST00000437413	ensembl	human	known	70_37	rna	SNP	1.000	A
LOC146880	146880	genome.wustl.edu	37	17	62745955	62745955	+	RNA	SNP	G	G	C			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr17:62745955G>C	ENST00000400873.3	-	0	2686					NR_026899.1																						CCACATTTAAGAAAGAGTTCT	0.343																																																	0																																												146880																															17.37:g.62745955G>C		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000400873.3	37	NULL		17																																																																																			hsa-mir-6080	-	-		0.343	hsa-mir-6080.1-201	KNOWN	basic	processed_transcript	LOC146880	miRBase	processed_transcript		G			62745955	-1	no_errors	ENST00000400873	ensembl	human	known	70_37	rna	SNP	0.929	C
LOC148709	148709	genome.wustl.edu	37	1	202843160	202843160	+	lincRNA	SNP	C	C	G			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr1:202843160C>G	ENST00000456105.2	+	0	1112					NR_002929.2																						GGTATGGAATCTTGTGGCATC	0.567																																																	0																																												148709																															1.37:g.202843160C>G		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000456105.2	37	NULL		1																																																																																			RP11-480I12.7	-	-		0.567	RP11-480I12.7-001	KNOWN	basic	lincRNA	LOC148709	Clone_based_vega_gene	lincRNA	OTTHUMT00000099158.2	C			202843160	+1	no_errors	ENST00000456105	ensembl	human	known	70_37	rna	SNP	1.000	G
LOC285556	285556	genome.wustl.edu	37	4	100574216	100574216	+	Missense_Mutation	SNP	T	T	C			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr4:100574216T>C	ENST00000511828.1	-	1	1589	c.1590A>G	c.(1588-1590)atA>atG	p.I530M																								TAGGCTCATTTATAGCCCGGG	0.562																																																	0																																										SO:0001583	missense	285556																														ENST00000511828.1:c.1590A>G	4.37:g.100574216T>C	ENSP00000427555:p.Ile530Met	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	NULL	p.I530M	ENST00000511828.1	37	c.1590		4	.	.	.	.	.	.	.	.	.	.	T	15.64	2.894751	0.52121	.	.	ENSG00000248713	ENST00000511828	T	0.16073	2.37	4.8	4.8	0.61643	.	.	.	.	.	T	0.22475	0.0542	L	0.29908	0.895	.	.	.	.	.	.	.	.	.	T	0.28106	-1.0054	6	0.87932	D	0	.	14.8377	0.70197	0.0:0.0:0.0:1.0	.	.	.	.	M	530	ENSP00000427555:I530M	ENSP00000427555:I530M	I	-	3	3	RP11-766F14.2	100793239	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.367000	0.44213	2.145000	0.66743	0.533000	0.62120	ATA	RP11-766F14.2	-	NULL		0.562	RP11-766F14.2-001	PUTATIVE	basic|appris_principal|exp_conf	protein_coding	LOC285556	Clone_based_vega_gene	protein_coding	OTTHUMT00000365456.1	T			100574216	-1	no_errors	ENST00000511828	ensembl	human	putative	70_37	missense	SNP	1.000	C
BASP1	10409	genome.wustl.edu	37	5	17217129	17217129	+	5'Flank	SNP	A	A	G			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr5:17217129A>G	ENST00000322611.3	+	0	0				AC091878.1_ENST00000399760.2_RNA	NM_001271606.1|NM_006317.3	NP_001258535.1|NP_006308.3	P80723	BASP1_HUMAN	brain abundant, membrane attached signal protein 1						diaphragm development (GO:0060539)|glomerular visceral epithelial cell differentiation (GO:0072112)|gonad development (GO:0008406)|mesenchymal to epithelial transition (GO:0060231)|metanephric mesenchyme development (GO:0072075)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of heart growth (GO:0060421)|positive regulation of metanephric ureteric bud development (GO:2001076)|substantia nigra development (GO:0021762)|thorax and anterior abdomen determination (GO:0007356)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	protein domain specific binding (GO:0019904)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)			endometrium(1)|lung(8)	9						GAGCCCGAGCACTTCTTATCC	0.567																																																	0																																										SO:0001631	upstream_gene_variant	285696			AF039656	CCDS3888.1	5p15.1	2010-12-03			ENSG00000176788	ENSG00000176788			957	protein-coding gene	gene with protein product		605940				9310187, 9749536	Standard	NM_001271606		Approved	NAP-22, NAP22, CAP23, CAP-23	uc031siz.1	P80723	OTTHUMG00000131061		5.37:g.17217129A>G	Exception_encountered	Somatic		WXS	Illumina HiSeq	Phase_IV	B4DJA8|D3DTD5|O43596|Q5U0S0|Q9BWA5	RNA	SNP	-	NULL	ENST00000322611.3	37	NULL	CCDS3888.1	5																																																																																			AC091878.1	-	-		0.567	BASP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LOC285696	Clone_based_vega_gene	protein_coding	OTTHUMT00000253716.2	A			17217129	-1	no_errors	ENST00000399760	ensembl	human	known	70_37	rna	SNP	0.000	G
LIAS	11019	genome.wustl.edu	37	4	39482011	39482011	+	IGR	SNP	G	G	A			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr4:39482011G>A	ENST00000261434.3	+	0	1775				RP11-472B18.1_ENST00000513652.1_RNA	NM_006859.2	NP_006850.2			lipoic acid synthetase											breast(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(2)|ovary(2)	12						ATGCGCCGACGCCCCGAGCGC	0.637																																																	0																																										SO:0001628	intergenic_variant	401127			AJ224162	CCDS3453.1, CCDS3454.1, CCDS63950.1	4p14	2008-02-05			ENSG00000121897	ENSG00000121897			16429	protein-coding gene	gene with protein product		607031				11124703	Standard	NM_006859		Approved	LAS	uc003guf.3	O43766	OTTHUMG00000099369		4.37:g.39482011G>A		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000261434.3	37	NULL	CCDS3453.1	4																																																																																			RP11-472B18.1	-	-		0.637	LIAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LOC401127	Clone_based_vega_gene	protein_coding	OTTHUMT00000216815.1	G	NM_194451		39482011	+1	no_errors	ENST00000506076	ensembl	human	known	70_37	rna	SNP	0.001	A
LOC407835	407835	genome.wustl.edu	37	7	128767621	128767621	+	RNA	SNP	C	C	G			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr7:128767621C>G	ENST00000471777.1	+	0	163																											AATGCCTCATCAAAAACCCAA	0.512																																																	0																																												407835																															7.37:g.128767621C>G		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000471777.1	37	NULL		7																																																																																			RP11-286H14.4	-	-		0.512	RP11-286H14.4-002	KNOWN	basic	processed_transcript	LOC407835	Clone_based_vega_gene	pseudogene	OTTHUMT00000350981.1	C			128767621	+1	no_errors	ENST00000471777	ensembl	human	known	70_37	rna	SNP	0.863	G
LOC100289656	100289656	genome.wustl.edu	37	15	29035045	29035045	+	RNA	SNP	G	G	A			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr15:29035045G>A	ENST00000430589.1	+	0	895				RP11-578F21.12_ENST00000562423.1_RNA	NR_036475.2																						ATCCCAGAGCGCACCTGCTTC	0.542																																																	0																																												646278																															15.37:g.29035045G>A		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000430589.1	37	NULL		15																																																																																			RP11-578F21.12	-	-		0.542	RP11-578F21.10-002	PUTATIVE	basic	processed_transcript	LOC646278	Clone_based_vega_gene	pseudogene	OTTHUMT00000431786.1	G			29035045	+1	no_errors	ENST00000562423	ensembl	human	putative	70_37	rna	SNP	0.857	A
LOC729218	729218	genome.wustl.edu	37	4	119554774	119554774	+	lincRNA	SNP	C	C	A			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr4:119554774C>A	ENST00000567913.2	+	0	4285																											CTTCCCCAGGCCCAGCTCCGG	0.682																																																	0																																												729218																															4.37:g.119554774C>A		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000567913.2	37	NULL		4																																																																																			RP11-384K6.6	-	-		0.682	RP11-384K6.6-001	KNOWN	basic	lincRNA	LOC729218	Clone_based_vega_gene	lincRNA	OTTHUMT00000364170.2	C			119554774	+1	no_errors	ENST00000567913	ensembl	human	known	70_37	rna	SNP	0.371	A
LONRF1	91694	genome.wustl.edu	37	8	12586472	12586472	+	Missense_Mutation	SNP	A	A	T			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr8:12586472A>T	ENST00000398246.3	-	10	2017	c.1948T>A	c.(1948-1950)Tta>Ata	p.L650I	LONRF1_ENST00000525024.1_Missense_Mutation_p.L76I|LONRF1_ENST00000533751.1_Missense_Mutation_p.L293I|MIR3926-2_ENST00000578598.1_RNA	NM_152271.3	NP_689484.3	Q17RB8	LONF1_HUMAN	LON peptidase N-terminal domain and ring finger 1	650	Lon.						ATP-dependent peptidase activity (GO:0004176)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(4)|ovary(1)|upper_aerodigestive_tract(2)	19				READ - Rectum adenocarcinoma(644;0.236)		CCTCTTTTTAAAACCCTAAAC	0.373																																																	0													181.0	168.0	172.0					8																	12586472		1849	4090	5939	SO:0001583	missense	91694			AK074329	CCDS5987.2	8p23.1	2013-01-09			ENSG00000154359	ENSG00000154359		"""RING-type (C3HC4) zinc fingers"""	26302	protein-coding gene	gene with protein product						18253036	Standard	XM_005273685		Approved	FLJ23749, RNF191	uc003wwd.1	Q17RB8	OTTHUMG00000165475	ENST00000398246.3:c.1948T>A	8.37:g.12586472A>T	ENSP00000381298:p.Leu650Ile	Somatic		WXS	Illumina HiSeq	Phase_IV	B4DM29|B4DU84|Q8TEA0|Q9BSV1	Missense_Mutation	SNP	pfam_Pept_S16_N,pfam_Znf_C3HC4_RING-type,superfamily_PUA-like_domain,smart_TPR_repeat,smart_Znf_RING,smart_Pept_S16_N,pfscan_TPR-contain_dom,pfscan_Znf_RING	p.L650I	ENST00000398246.3	37	c.1948	CCDS5987.2	8	.	.	.	.	.	.	.	.	.	.	A	16.83	3.231685	0.58777	.	.	ENSG00000154359	ENST00000398246;ENST00000525024;ENST00000533751;ENST00000524526	T;T;T;T	0.45276	0.9;0.9;0.9;0.9	5.04	-0.226	0.13106	Peptidase S16, lon N-terminal (1);PUA-like domain (1);	0.071926	0.56097	D	0.000023	T	0.52403	0.1732	L	0.60845	1.875	0.51012	D	0.999902	D;D	0.65815	0.985;0.995	P;D	0.67382	0.873;0.951	T	0.47787	-0.9090	10	0.42905	T	0.14	-9.7898	10.0683	0.42317	0.6085:0.0:0.3915:0.0	.	639;650	Q17RB8-2;Q17RB8	.;LONF1_HUMAN	I	650;76;293;253	ENSP00000381298:L650I;ENSP00000436770:L76I;ENSP00000432130:L293I;ENSP00000433327:L253I	ENSP00000381298:L650I	L	-	1	2	LONRF1	12630843	0.219000	0.23619	0.996000	0.52242	0.995000	0.86356	0.315000	0.19451	0.063000	0.16370	0.455000	0.32223	TTA	LONRF1	-	pfam_Pept_S16_N,superfamily_PUA-like_domain,smart_Pept_S16_N		0.373	LONRF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LONRF1	HGNC	protein_coding	OTTHUMT00000251693.2	A	NM_152271		12586472	-1	no_errors	ENST00000398246	ensembl	human	known	70_37	missense	SNP	0.573	T
LPAR2	9170	genome.wustl.edu	37	19	19737448	19737448	+	Missense_Mutation	SNP	G	G	A	rs368960100		TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr19:19737448G>A	ENST00000542587.1	-	5	1548	c.646C>T	c.(646-648)Cgg>Tgg	p.R216W	LPAR2_ENST00000586703.1_Missense_Mutation_p.R216W|LPAR2_ENST00000407877.3_Missense_Mutation_p.R216W|LPAR2_ENST00000589311.1_5'Flank			Q9HBW0	LPAR2_HUMAN	lysophosphatidic acid receptor 2	216					activation of MAPK activity (GO:0000187)|activation of phospholipase C activity (GO:0007202)|G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of Rho protein signal transduction (GO:0035025)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|lipid binding (GO:0008289)|lysophosphatidic acid receptor activity (GO:0070915)			breast(1)|endometrium(2)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|urinary_tract(1)	10						ACTCGCCGCCGCACGTAGAAG	0.602																																																	0													56.0	59.0	58.0					19																	19737448		2203	4300	6503	SO:0001583	missense	9170			AF011466	CCDS12407.1	19p12	2012-08-08	2008-04-11	2008-04-11		ENSG00000064547		"""GPCR / Class A : Lysophospholipid receptors : Lysophosphatidic acid"""	3168	protein-coding gene	gene with protein product		605110	"""endothelial differentiation, lysophosphatidic acid G-protein-coupled receptor, 4"""	EDG4		9525886, 9804623	Standard	NM_004720		Approved	EDG-4, LPA2	uc002nnb.4	Q9HBW0		ENST00000542587.1:c.646C>T	19.37:g.19737448G>A	ENSP00000443256:p.Arg216Trp	Somatic		WXS	Illumina HiSeq	Phase_IV	O00543|O43431	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_LPA_rcpt_EDG4,prints_GPCR_Rhodpsn,prints_LPA_rcpt,prints_LPA_rcpt_EDG2,prints_Melcrt_ACTH_rcpt,prints_S1P_rcpt	p.R216W	ENST00000542587.1	37	c.646	CCDS12407.1	19	.	.	.	.	.	.	.	.	.	.	G	11.73	1.724884	0.30593	.	.	ENSG00000064547	ENST00000407877;ENST00000542587	T;T	0.41400	1.0;1.0	4.14	-2.52	0.06346	GPCR, rhodopsin-like superfamily (1);	0.055445	0.64402	D	0.000003	T	0.59715	0.2214	M	0.84433	2.695	0.19945	N	0.999947	D	0.89917	1.0	D	0.77004	0.989	T	0.54323	-0.8311	10	0.87932	D	0	.	8.3534	0.32316	0.087:0.0:0.2224:0.6906	.	216	Q9HBW0	LPAR2_HUMAN	W	216	ENSP00000384665:R216W;ENSP00000443256:R216W	ENSP00000384665:R216W	R	-	1	2	LPAR2	19598448	0.003000	0.15002	0.008000	0.14137	0.003000	0.03518	0.629000	0.24538	-0.566000	0.06054	-0.258000	0.10820	CGG	LPAR2	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_LPA_rcpt,prints_S1P_rcpt		0.602	LPAR2-003	KNOWN	alternative_5_UTR|non_canonical_TEC|basic|appris_principal|CCDS	protein_coding	LPAR2	HGNC	protein_coding	OTTHUMT00000460544.1	G	NM_004720		19737448	-1	no_errors	ENST00000407877	ensembl	human	known	70_37	missense	SNP	0.022	A
LPAR3	23566	genome.wustl.edu	37	1	85331733	85331733	+	Missense_Mutation	SNP	T	T	A			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr1:85331733T>A	ENST00000440886.1	-	1	109	c.71A>T	c.(70-72)gAc>gTc	p.D24V	LPAR3_ENST00000491034.1_5'UTR|LPAR3_ENST00000370611.3_Missense_Mutation_p.D24V			Q9UBY5	LPAR3_HUMAN	lysophosphatidic acid receptor 3	24					activation of MAPK activity (GO:0000187)|bleb assembly (GO:0032060)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of collateral sprouting (GO:0048672)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|synaptic transmission (GO:0007268)	axon (GO:0030424)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|lipid binding (GO:0008289)|lysophosphatidic acid receptor activity (GO:0070915)|phospholipid binding (GO:0005543)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|urinary_tract(1)	24						TCCTGTCCAGTCATCGACAGT	0.383																																																	0													110.0	119.0	116.0					1																	85331733		2203	4300	6503	SO:0001583	missense	23566			AF127138	CCDS700.1	1p22.3	2012-08-08	2008-04-11	2008-04-11	ENSG00000171517	ENSG00000171517		"""GPCR / Class A : Lysophospholipid receptors : Lysophosphatidic acid"""	14298	protein-coding gene	gene with protein product		605106	"""endothelial differentiation, lysophosphatidic acid G-protein-coupled receptor, 7"""	EDG7		10488122	Standard	NM_012152		Approved	LP-A3, Edg-7, RP4-678I3, HOFNH30, LPA3	uc009wcj.1	Q9UBY5	OTTHUMG00000009925	ENST00000440886.1:c.71A>T	1.37:g.85331733T>A	ENSP00000395389:p.Asp24Val	Somatic		WXS	Illumina HiSeq	Phase_IV	A0AVA3	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_LPA_rcpt_EDG7,prints_GPCR_Rhodpsn,prints_LPA_rcpt,prints_LPA_rcpt_EDG2,prints_Melcrt_ACTH_rcpt	p.D24V	ENST00000440886.1	37	c.71	CCDS700.1	1	.	.	.	.	.	.	.	.	.	.	T	10.96	1.498588	0.26861	.	.	ENSG00000171517	ENST00000440886;ENST00000370611	T;T	0.37235	1.21;1.21	5.45	5.45	0.79879	.	0.491092	0.22276	N	0.062192	T	0.16557	0.0398	L	0.29908	0.895	0.44500	D	0.997441	B	0.14805	0.011	B	0.12837	0.008	T	0.03212	-1.1060	10	0.41790	T	0.15	.	15.5073	0.75750	0.0:0.0:0.0:1.0	.	24	Q9UBY5	LPAR3_HUMAN	V	24	ENSP00000395389:D24V;ENSP00000359643:D24V	ENSP00000359643:D24V	D	-	2	0	LPAR3	85104321	1.000000	0.71417	0.997000	0.53966	0.662000	0.39071	3.713000	0.54882	2.063000	0.61619	0.260000	0.18958	GAC	LPAR3	-	prints_LPA_rcpt_EDG7,prints_LPA_rcpt		0.383	LPAR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LPAR3	HGNC	protein_coding	OTTHUMT00000027467.1	T	NM_012152		85331733	-1	no_errors	ENST00000370611	ensembl	human	known	70_37	missense	SNP	0.996	A
LPAR5	57121	genome.wustl.edu	37	12	6730127	6730127	+	Silent	SNP	C	C	T			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr12:6730127C>T	ENST00000329858.4	-	2	1044	c.288G>A	c.(286-288)acG>acA	p.T96T	LPAR5_ENST00000431922.1_Silent_p.T96T|LPAR5_ENST00000540335.1_5'UTR	NM_020400.5	NP_065133.1	Q9H1C0	LPAR5_HUMAN	lysophosphatidic acid receptor 5	96						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			endometrium(2)|large_intestine(1)|lung(1)|ovary(1)|skin(2)	7						TGGCGCCCGTCGTCTGGCACA	0.637																																					NSCLC(74;891 2312 37538)												0													37.0	30.0	33.0					12																	6730127		2203	4300	6503	SO:0001819	synonymous_variant	57121			AJ272207	CCDS8553.1	12p13.31	2012-08-08	2008-04-11	2008-04-11		ENSG00000184574		"""GPCR / Class A : Lysophospholipid receptors : Lysophosphatidic acid"""	13307	protein-coding gene	gene with protein product		606926	"""G protein-coupled receptor 92"""	GPR93, GPR92		11062477, 11574155, 16774927, 16651401	Standard	NM_020400		Approved	KPG_010, LPA5	uc009zer.2	Q9H1C0		ENST00000329858.4:c.288G>A	12.37:g.6730127C>T		Somatic		WXS	Illumina HiSeq	Phase_IV		Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn,prints_P2_purnocptor	p.T96	ENST00000329858.4	37	c.288	CCDS8553.1	12																																																																																			LPAR5	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_P2_purnocptor		0.637	LPAR5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LPAR5	HGNC	protein_coding	OTTHUMT00000400699.1	C	NM_020400		6730127	-1	no_errors	ENST00000329858	ensembl	human	known	70_37	silent	SNP	0.001	T
LPCAT1	79888	genome.wustl.edu	37	5	1483582	1483582	+	Silent	SNP	C	C	T	rs374216703		TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr5:1483582C>T	ENST00000283415.3	-	6	819	c.687G>A	c.(685-687)gcG>gcA	p.A229A		NM_024830.3	NP_079106.3	Q8NF37	PCAT1_HUMAN	lysophosphatidylcholine acyltransferase 1	229					cellular lipid metabolic process (GO:0044255)|glycerophospholipid biosynthetic process (GO:0046474)|negative regulation of phosphatidylcholine biosynthetic process (GO:2001246)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylglycerol acyl-chain remodeling (GO:0036148)|phospholipid biosynthetic process (GO:0008654)|phospholipid metabolic process (GO:0006644)|positive regulation of protein catabolic process (GO:0045732)|retina development in camera-type eye (GO:0060041)|small molecule metabolic process (GO:0044281)|surfactant homeostasis (GO:0043129)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lipid particle (GO:0005811)|membrane (GO:0016020)	1-acylglycerophosphocholine O-acyltransferase activity (GO:0047184)|1-alkenylglycerophosphocholine O-acyltransferase activity (GO:0047159)|1-alkylglycerophosphocholine O-acetyltransferase activity (GO:0047192)|1-alkylglycerophosphocholine O-acyltransferase activity (GO:0047191)|calcium ion binding (GO:0005509)			breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(12)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	30			OV - Ovarian serous cystadenocarcinoma(19;0.0274)|all cancers(22;0.0534)	GBM - Glioblastoma multiforme(108;0.156)		GCTGGACGGGCGCTCCAGGGA	0.562																																																	0								C		2,4404	4.2+/-10.8	0,2,2201	82.0	81.0	81.0		687	-7.9	0.0	5		81	0,8600		0,0,4300	no	coding-synonymous	LPCAT1	NM_024830.3		0,2,6501	TT,TC,CC		0.0,0.0454,0.0154		229/535	1483582	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	79888			BC020166	CCDS3864.1	5p15.33	2013-01-10	2007-12-17	2007-12-17	ENSG00000153395	ENSG00000153395		"""EF-hand domain containing"""	25718	protein-coding gene	gene with protein product		610472	"""acyltransferase like 2"""	AYTL2		8619474, 16704971	Standard	NM_024830		Approved	FLJ12443	uc003jcm.3	Q8NF37	OTTHUMG00000131017	ENST00000283415.3:c.687G>A	5.37:g.1483582C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q1HAQ1|Q7Z4G6|Q8N3U7|Q8WUL8|Q9GZW6	Silent	SNP	pfam_Plipid/glycerol_acylTrfase,smart_Plipid/glycerol_acylTrfase,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2	p.A229	ENST00000283415.3	37	c.687	CCDS3864.1	5																																																																																			LPCAT1	-	smart_Plipid/glycerol_acylTrfase		0.562	LPCAT1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	LPCAT1	HGNC	protein_coding	OTTHUMT00000304032.1	C	NM_024830		1483582	-1	no_errors	ENST00000283415	ensembl	human	known	70_37	silent	SNP	0.232	T
LPCAT2	54947	genome.wustl.edu	37	16	55543252	55543252	+	Silent	SNP	G	G	A			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr16:55543252G>A	ENST00000262134.5	+	1	343	c.159G>A	c.(157-159)gcG>gcA	p.A53A		NM_017839.4	NP_060309.2	Q7L5N7	PCAT2_HUMAN	lysophosphatidylcholine acyltransferase 2	53					glycerophospholipid biosynthetic process (GO:0046474)|membrane organization (GO:0061024)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phospholipid metabolic process (GO:0006644)|platelet activating factor biosynthetic process (GO:0006663)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)|lipid particle (GO:0005811)	1-acylglycerol-3-phosphate O-acyltransferase activity (GO:0003841)|1-acylglycerophosphocholine O-acyltransferase activity (GO:0047184)|1-alkylglycerophosphocholine O-acetyltransferase activity (GO:0047192)|calcium ion binding (GO:0005509)			endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)	12						TCGGCTCCGCGAGGCGGGTCC	0.706																																																	0													9.0	12.0	11.0					16																	55543252		1719	3616	5335	SO:0001819	synonymous_variant	54947			AK000488	CCDS10753.1	16q12.2	2013-01-10	2007-12-17	2007-12-17	ENSG00000087253	ENSG00000087253		"""EF-hand domain containing"""	26032	protein-coding gene	gene with protein product		612040	"""acyltransferase like 1"""	AYTL1		16704971	Standard	NM_017839		Approved	FLJ20481	uc002eie.4	Q7L5N7	OTTHUMG00000133238	ENST00000262134.5:c.159G>A	16.37:g.55543252G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	A3KBM1|Q6MZJ6|Q9NX23	Silent	SNP	pfam_EF-hand,pfam_Plipid/glycerol_acylTrfase,smart_Plipid/glycerol_acylTrfase,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2,prints_Recoverin	p.A53	ENST00000262134.5	37	c.159	CCDS10753.1	16																																																																																			LPCAT2	-	NULL		0.706	LPCAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LPCAT2	HGNC	protein_coding	OTTHUMT00000256977.2	G	NM_017839		55543252	+1	no_errors	ENST00000262134	ensembl	human	known	70_37	silent	SNP	0.000	A
LRCH2	57631	genome.wustl.edu	37	X	114414315	114414315	+	Splice_Site	SNP	C	C	T			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chrX:114414315C>T	ENST00000317135.8	-	4	652		c.e4-1		LRCH2_ENST00000538422.1_Splice_Site	NM_020871.3	NP_065922.3	Q5VUJ6	LRCH2_HUMAN	leucine-rich repeats and calponin homology (CH) domain containing 2											breast(1)|endometrium(4)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|prostate(1)	19						AGCTAATATCCTAAGGAGAAC	0.274																																																	0													41.0	33.0	36.0					X																	114414315		1787	4045	5832	SO:0001630	splice_region_variant	57631			AB040928	CCDS48155.1, CCDS59175.1	Xq24	2008-02-05			ENSG00000130224	ENSG00000130224			29292	protein-coding gene	gene with protein product						10819331	Standard	NM_020871		Approved	KIAA1495	uc010nqe.3	Q5VUJ6	OTTHUMG00000022233	ENST00000317135.8:c.622-1G>A	X.37:g.114414315C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	F5H2T1|Q08AD5|Q9HA88|Q9P233	Splice_Site	SNP	-	e4-1	ENST00000317135.8	37	c.622-1	CCDS48155.1	X	.	.	.	.	.	.	.	.	.	.	C	18.42	3.619790	0.66787	.	.	ENSG00000130224	ENST00000317135;ENST00000538422	.	.	.	5.27	5.27	0.74061	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.59	0.84762	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	LRCH2	114320571	1.000000	0.71417	1.000000	0.80357	0.851000	0.48451	5.541000	0.67212	2.313000	0.78055	0.538000	0.68166	.	LRCH2	-	-		0.274	LRCH2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	LRCH2	HGNC	protein_coding	OTTHUMT00000057971.2	C	NM_020871	Intron	114414315	-1	no_errors	ENST00000317135	ensembl	human	known	70_37	splice_site	SNP	1.000	T
LRGUK	136332	genome.wustl.edu	37	7	133848242	133848242	+	Missense_Mutation	SNP	G	G	T			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr7:133848242G>T	ENST00000285928.2	+	7	958	c.889G>T	c.(889-891)Ggc>Tgc	p.G297C		NM_144648.1	NP_653249.1	Q96M69	LRGUK_HUMAN	leucine-rich repeats and guanylate kinase domain containing	297						cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|kinase activity (GO:0016301)			breast(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(23)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	49						CAGCCTCCAAGGCTTAGAGAA	0.448																																																	0													88.0	89.0	89.0					7																	133848242		2203	4300	6503	SO:0001583	missense	136332			AK057348	CCDS5830.1	7q33	2006-10-27			ENSG00000155530	ENSG00000155530			21964	protein-coding gene	gene with protein product							Standard	NM_144648		Approved	FLJ32786	uc003vrm.1	Q96M69	OTTHUMG00000155320	ENST00000285928.2:c.889G>T	7.37:g.133848242G>T	ENSP00000285928:p.Gly297Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q2M3I1	Missense_Mutation	SNP	pfam_Guanylate_kin,pfam_Leu-rich_rpt,smart_Guanylate_kin/L-typ_Ca_channel,pfscan_Guanylate_kin	p.G297C	ENST00000285928.2	37	c.889	CCDS5830.1	7	.	.	.	.	.	.	.	.	.	.	G	22.7	4.326059	0.81580	.	.	ENSG00000155530	ENST00000285928	T	0.59502	0.26	5.58	5.58	0.84498	.	0.000000	0.85682	D	0.000000	T	0.73140	0.3549	M	0.87617	2.895	0.58432	D	0.999995	P	0.42161	0.772	P	0.48114	0.567	T	0.78262	-0.2272	10	0.87932	D	0	-7.332	18.3174	0.90226	0.0:0.0:1.0:0.0	.	297	Q96M69	LRGUK_HUMAN	C	297	ENSP00000285928:G297C	ENSP00000285928:G297C	G	+	1	0	LRGUK	133498782	1.000000	0.71417	1.000000	0.80357	0.964000	0.63967	7.512000	0.81728	2.613000	0.88420	0.555000	0.69702	GGC	LRGUK	-	pfam_Leu-rich_rpt		0.448	LRGUK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRGUK	HGNC	protein_coding	OTTHUMT00000339442.1	G	NM_144648		133848242	+1	no_errors	ENST00000285928	ensembl	human	known	70_37	missense	SNP	1.000	T
LRGUK	136332	genome.wustl.edu	37	7	133881815	133881815	+	Silent	SNP	C	C	T			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr7:133881815C>T	ENST00000285928.2	+	13	1572	c.1503C>T	c.(1501-1503)atC>atT	p.I501I		NM_144648.1	NP_653249.1	Q96M69	LRGUK_HUMAN	leucine-rich repeats and guanylate kinase domain containing	501	Guanylate kinase-like. {ECO:0000255|PROSITE-ProRule:PRU00100}.					cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|kinase activity (GO:0016301)			breast(1)|endometrium(2)|kidney(2)|large_intestine(12)|lung(23)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	49						TAGAAGGTATCGCAAGAGATG	0.363																																																	0													183.0	169.0	174.0					7																	133881815		2203	4300	6503	SO:0001819	synonymous_variant	136332			AK057348	CCDS5830.1	7q33	2006-10-27			ENSG00000155530	ENSG00000155530			21964	protein-coding gene	gene with protein product							Standard	NM_144648		Approved	FLJ32786	uc003vrm.1	Q96M69	OTTHUMG00000155320	ENST00000285928.2:c.1503C>T	7.37:g.133881815C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q2M3I1	Silent	SNP	pfam_Guanylate_kin,pfam_Leu-rich_rpt,smart_Guanylate_kin/L-typ_Ca_channel,pfscan_Guanylate_kin	p.I501	ENST00000285928.2	37	c.1503	CCDS5830.1	7																																																																																			LRGUK	-	pfam_Guanylate_kin,smart_Guanylate_kin/L-typ_Ca_channel,pfscan_Guanylate_kin		0.363	LRGUK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRGUK	HGNC	protein_coding	OTTHUMT00000339442.1	C	NM_144648		133881815	+1	no_errors	ENST00000285928	ensembl	human	known	70_37	silent	SNP	0.992	T
LRPPRC	10128	genome.wustl.edu	37	2	44190814	44190814	+	Missense_Mutation	SNP	T	T	A			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr2:44190814T>A	ENST00000260665.7	-	12	1458	c.1401A>T	c.(1399-1401)gaA>gaT	p.E467D	LRPPRC_ENST00000409659.1_Missense_Mutation_p.E467D|LRPPRC_ENST00000409946.1_Missense_Mutation_p.E467D	NM_133259.3	NP_573566.2	P42704	LPPRC_HUMAN	leucine-rich pentatricopeptide repeat containing	467					mitochondrion transport along microtubule (GO:0047497)|mRNA transport (GO:0051028)|negative regulation of mitochondrial RNA catabolic process (GO:0000961)|regulation of mitochondrial translation (GO:0070129)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	condensed nuclear chromosome (GO:0000794)|cytoskeleton (GO:0005856)|membrane (GO:0016020)|microtubule (GO:0005874)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|ribonucleoprotein complex (GO:0030529)	beta-tubulin binding (GO:0048487)|microtubule binding (GO:0008017)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|single-stranded DNA binding (GO:0003697)			breast(3)|endometrium(3)|kidney(5)|large_intestine(9)|lung(15)|ovary(2)|prostate(2)|skin(2)	41		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				GTACTCCCAATTCTTGCATTC	0.363																																																	0													138.0	134.0	136.0					2																	44190814		2203	4300	6503	SO:0001583	missense	10128			M92439	CCDS33189.1	2p21	2012-02-24	2012-02-24		ENSG00000138095	ENSG00000138095			15714	protein-coding gene	gene with protein product		607544	"""Leigh syndrome, French-Canadian type (cytochrome oxidase deficiency)"""	LSFC		8012652, 8619474, 22045337	Standard	NM_133259		Approved	GP130, LRP130	uc002rtr.2	P42704	OTTHUMG00000152782	ENST00000260665.7:c.1401A>T	2.37:g.44190814T>A	ENSP00000260665:p.Glu467Asp	Somatic		WXS	Illumina HiSeq	Phase_IV	A0PJE3|A8K1V1|Q53PC0|Q53QN7|Q6ZUD8|Q7Z7A6|Q96D84	Missense_Mutation	SNP	pfam_Pentatricopeptide_repeat,tigrfam_Pentatricopeptide_repeat	p.E467D	ENST00000260665.7	37	c.1401	CCDS33189.1	2	.	.	.	.	.	.	.	.	.	.	T	8.896	0.955156	0.18507	.	.	ENSG00000138095	ENST00000465633;ENST00000260665;ENST00000409946;ENST00000409659	T;T;T	0.30182	1.54;1.54;1.54	5.47	-2.14	0.07123	.	0.158211	0.53938	N	0.000043	T	0.20740	0.0499	L	0.49640	1.575	0.20764	N	0.99986	B;B	0.28933	0.228;0.012	B;B	0.24541	0.054;0.012	T	0.16660	-1.0395	10	0.28530	T	0.3	-7.8431	8.5327	0.33344	0.0:0.3718:0.1043:0.5239	.	367;467	F5H4J6;P42704	.;LPPRC_HUMAN	D	367;467;467;467	ENSP00000260665:E467D;ENSP00000386234:E467D;ENSP00000386562:E467D	ENSP00000260665:E467D	E	-	3	2	LRPPRC	44044318	0.003000	0.15002	0.007000	0.13788	0.024000	0.10985	-0.280000	0.08468	-0.246000	0.09611	-0.371000	0.07208	GAA	LRPPRC	-	NULL		0.363	LRPPRC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRPPRC	HGNC	protein_coding	OTTHUMT00000327823.1	T	NM_133259		44190814	-1	no_errors	ENST00000260665	ensembl	human	known	70_37	missense	SNP	0.005	A
NRROS	375387	genome.wustl.edu	37	3	196386861	196386861	+	Missense_Mutation	SNP	G	G	A	rs371259559		TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr3:196386861G>A	ENST00000328557.4	+	3	550	c.347G>A	c.(346-348)tGc>tAc	p.C116Y		NM_198565.1	NP_940967.1	Q86YC3	NRROS_HUMAN	negative regulator of reactive oxygen species	116					immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|superoxide metabolic process (GO:0006801)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)											GGGGACAACTGCCTCTCAGAG	0.672																																																	0													30.0	31.0	31.0					3																	196386861		2203	4300	6503	SO:0001583	missense	375387			AY358322	CCDS3319.1	3q29	2013-07-02	2013-07-02	2013-07-02	ENSG00000174004	ENSG00000174004			24613	protein-coding gene	gene with protein product		615322	"""leucine rich repeat containing 33"""	LRRC33		12975309	Standard	NM_198565		Approved	UNQ3030, ELLP3030, MGC50789, GARPL1	uc003fwv.3	Q86YC3	OTTHUMG00000155569	ENST00000328557.4:c.347G>A	3.37:g.196386861G>A	ENSP00000328625:p.Cys116Tyr	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	p.C116Y	ENST00000328557.4	37	c.347	CCDS3319.1	3	.	.	.	.	.	.	.	.	.	.	G	1.433	-0.569752	0.03910	.	.	ENSG00000174004	ENST00000328557	T	0.00912	5.55	6.07	-3.18	0.05186	.	1.909380	0.01780	N	0.031717	T	0.00724	0.0024	N	0.08118	0	0.09310	N	0.999999	B	0.12013	0.005	B	0.09377	0.004	T	0.48843	-0.8999	10	0.52906	T	0.07	.	6.3545	0.21395	0.1542:0.4997:0.2547:0.0913	.	116	Q86YC3	LRC33_HUMAN	Y	116	ENSP00000328625:C116Y	ENSP00000328625:C116Y	C	+	2	0	LRRC33	197871258	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	0.239000	0.18023	-0.481000	0.06792	-1.437000	0.01076	TGC	LRRC33	-	NULL		0.672	NRROS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC33	HGNC	protein_coding	OTTHUMT00000340676.1	G	NM_198565		196386861	+1	no_errors	ENST00000328557	ensembl	human	known	70_37	missense	SNP	0.000	A
LRRC53	100144878	genome.wustl.edu	37	1	74945903	74945903	+	Silent	SNP	G	G	A			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr1:74945903G>A	ENST00000294635.4	-	3	952	c.838C>T	c.(838-840)Cta>Tta	p.L280L	LRRC53_ENST00000416014.2_Silent_p.L280L|TNNI3K_ENST00000370891.2_Intron|TNNI3K_ENST00000326637.3_Intron|FPGT-TNNI3K_ENST00000557284.2_Intron			A6NM62	LRC53_HUMAN	leucine rich repeat containing 53	280						integral component of membrane (GO:0016021)				NS(1)|breast(1)|lung(2)	4						CTGTCCTTTAGAACCAGAGTG	0.557																																																	0																																										SO:0001819	synonymous_variant	100144878					1p31.3	2010-08-31			ENSG00000162621	ENSG00000162621			25255	protein-coding gene	gene with protein product							Standard			Approved			A6NM62	OTTHUMG00000009621	ENST00000294635.4:c.838C>T	1.37:g.74945903G>A		Somatic		WXS	Illumina HiSeq	Phase_IV		Silent	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	p.L280	ENST00000294635.4	37	c.838		1																																																																																			LRRC53	-	NULL		0.557	LRRC53-001	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	LRRC53	HGNC	protein_coding	OTTHUMT00000026515.2	G			74945903	-1	no_errors	ENST00000294635	ensembl	human	known	70_37	silent	SNP	0.176	A
LRRC70	100130733	genome.wustl.edu	37	5	61876409	61876409	+	Missense_Mutation	SNP	A	A	T			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr5:61876409A>T	ENST00000334994.5	+	2	1383	c.1144A>T	c.(1144-1146)Aac>Tac	p.N382Y	LRRC70_ENST00000491184.2_3'UTR|IPO11_ENST00000325324.6_Intron|IPO11_ENST00000409296.3_Intron|LRRC70_ENST00000448151.2_3'UTR|IPO11_ENST00000409534.1_Intron	NM_181506.4	NP_852607.3	Q7Z2Q7	LRR70_HUMAN	leucine rich repeat containing 70	382	LRRCT.					integral component of membrane (GO:0016021)				breast(1)|endometrium(1)	2						CATTACTCTAAACATCTATTG	0.393																																																	0													46.0	37.0	40.0					5																	61876409		692	1591	2283	SO:0001583	missense	100130733				CCDS47218.1	5q12.1	2008-12-18			ENSG00000186105	ENSG00000186105			35155	protein-coding gene	gene with protein product	"""synleurin"""						Standard	NM_181506		Approved	SLRN, LOC100130733	uc011cqs.1	Q7Z2Q7	OTTHUMG00000154401	ENST00000334994.5:c.1144A>T	5.37:g.61876409A>T	ENSP00000399441:p.Asn382Tyr	Somatic		WXS	Illumina HiSeq	Phase_IV	Q6ZWI5	Missense_Mutation	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C	p.N382Y	ENST00000334994.5	37	c.1144	CCDS47218.1	5	.	.	.	.	.	.	.	.	.	.	A	16.83	3.231411	0.58777	.	.	ENSG00000186105	ENST00000334994	T	0.25579	1.79	4.41	4.41	0.53225	Cysteine-rich flanking region, C-terminal (1);	.	.	.	.	T	0.31544	0.0800	L	0.31120	0.905	0.80722	D	1	D	0.55385	0.971	P	0.54401	0.751	T	0.07770	-1.0755	9	0.62326	D	0.03	.	14.6908	0.69085	1.0:0.0:0.0:0.0	.	382	Q7Z2Q7	LRR70_HUMAN	Y	382	ENSP00000399441:N382Y	ENSP00000399441:N382Y	N	+	1	0	LRRC70	61912165	1.000000	0.71417	0.999000	0.59377	0.966000	0.64601	6.439000	0.73430	2.198000	0.70561	0.533000	0.62120	AAC	LRRC70	-	smart_Cys-rich_flank_reg_C		0.393	LRRC70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC70	HGNC	protein_coding	OTTHUMT00000335067.3	A	XR_042302		61876409	+1	no_errors	ENST00000334994	ensembl	human	known	70_37	missense	SNP	1.000	T
LRRC71	149499	genome.wustl.edu	37	1	156901741	156901741	+	Missense_Mutation	SNP	C	C	T			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr1:156901741C>T	ENST00000337428.7	+	13	1517	c.1363C>T	c.(1363-1365)Ctc>Ttc	p.L455F	LRRC71_ENST00000490146.1_3'UTR|ARHGEF11_ENST00000487682.1_5'Flank	NM_144702.2	NP_653303.2	Q8N4P6	LRC71_HUMAN	leucine rich repeat containing 71	455										endometrium(2)|large_intestine(3)|lung(5)|ovary(1)|stomach(1)	12						GGTCAACCCTCTCCTGGAGCC	0.527																																																	0													66.0	70.0	69.0					1																	156901741		1987	4153	6140	SO:0001583	missense	149499			BC033790	CCDS44249.1	1q23.1	2011-02-14	2011-02-14	2011-02-14	ENSG00000160838	ENSG00000160838			26556	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 92"""	C1orf92		14702039	Standard	NM_144702		Approved	FLJ32884	uc001fqm.2	Q8N4P6	OTTHUMG00000041298	ENST00000337428.7:c.1363C>T	1.37:g.156901741C>T	ENSP00000336661:p.Leu455Phe	Somatic		WXS	Illumina HiSeq	Phase_IV	Q96M24	Missense_Mutation	SNP	smart_Leu-rich_rpt_RNase_inh_sub-typ	p.L455F	ENST00000337428.7	37	c.1363	CCDS44249.1	1	.	.	.	.	.	.	.	.	.	.	C	25.3	4.620768	0.87460	.	.	ENSG00000160838	ENST00000337428	T	0.38887	1.11	5.68	5.68	0.88126	.	0.000000	0.44902	D	0.000420	T	0.47395	0.1443	L	0.32530	0.975	0.47584	D	0.999462	D;D	0.89917	1.0;1.0	D;D	0.91635	0.997;0.999	T	0.49551	-0.8928	10	0.72032	D	0.01	-26.0456	16.7107	0.85384	0.0:1.0:0.0:0.0	.	455;241	Q8N4P6;Q8N4P6-2	LRC71_HUMAN;.	F	455	ENSP00000336661:L455F	ENSP00000336661:L455F	L	+	1	0	LRRC71	155168365	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.511000	0.67024	2.668000	0.90789	0.563000	0.77884	CTC	LRRC71	-	NULL		0.527	LRRC71-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC71	HGNC	protein_coding	OTTHUMT00000098961.1	C	NM_144702		156901741	+1	no_errors	ENST00000337428	ensembl	human	known	70_37	missense	SNP	1.000	T
LYST	1130	genome.wustl.edu	37	1	235824371	235824371	+	3'UTR	SNP	G	G	C			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr1:235824371G>C	ENST00000389794.3	-	0	13449				LYST_ENST00000473037.1_5'UTR|LYST_ENST00000389793.2_3'UTR			Q99698	LYST_HUMAN	lysosomal trafficking regulator						blood coagulation (GO:0007596)|defense response to bacterium (GO:0042742)|defense response to protozoan (GO:0042832)|defense response to virus (GO:0051607)|endosome to lysosome transport via multivesicular body sorting pathway (GO:0032510)|leukocyte chemotaxis (GO:0030595)|lysosome organization (GO:0007040)|mast cell secretory granule organization (GO:0033364)|melanosome organization (GO:0032438)|microtubule-based process (GO:0007017)|natural killer cell mediated cytotoxicity (GO:0042267)|neutrophil mediated immunity (GO:0002446)|phospholipid homeostasis (GO:0055091)|phospholipid metabolic process (GO:0006644)|pigmentation (GO:0043473)|positive regulation of natural killer cell activation (GO:0032816)|response to drug (GO:0042493)|secretion of lysosomal enzymes (GO:0033299)|T cell mediated immunity (GO:0002456)	cytosol (GO:0005829)|microtubule cytoskeleton (GO:0015630)				NS(1)|breast(13)|central_nervous_system(3)|cervix(3)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(27)|lung(66)|ovary(7)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	162	Ovarian(103;0.0634)|Breast(184;0.23)	all_cancers(173;0.00246)|Prostate(94;0.0771)|Acute lymphoblastic leukemia(190;0.228)	OV - Ovarian serous cystadenocarcinoma(106;0.000674)			CCAAATTGAAGAGGCAGTGTA	0.289																																																	0																																										SO:0001624	3_prime_UTR_variant	1130			U70064	CCDS31062.1	1q42.1-q42.2	2014-09-17	2004-12-09	2004-12-10	ENSG00000143669	ENSG00000143669		"""WD repeat domain containing"""	1968	protein-coding gene	gene with protein product		606897	"""Chediak-Higashi syndrome 1"""	CHS1		8717042, 8896560	Standard	NM_000081		Approved	CHS	uc001hxj.3	Q99698	OTTHUMG00000040527	ENST00000389794.3:c.*1869C>G	1.37:g.235824371G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	O43274|Q5T2U9|Q96TD7|Q96TD8|Q99709|Q9H133	RNA	SNP	-	NULL	ENST00000389794.3	37	NULL	CCDS31062.1	1																																																																																			LYST	-	-		0.289	LYST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LYST	HGNC	protein_coding	OTTHUMT00000097533.5	G			235824371	-1	no_errors	ENST00000473037	ensembl	human	known	70_37	rna	SNP	0.998	C
MAB21L1	4081	genome.wustl.edu	37	13	36049347	36049347	+	Missense_Mutation	SNP	C	C	T			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr13:36049347C>T	ENST00000379919.4	-	1	1485	c.929G>A	c.(928-930)tGc>tAc	p.C310Y	NBEA_ENST00000540320.1_Intron|NBEA_ENST00000400445.3_Intron|NBEA_ENST00000379939.2_Intron|NBEA_ENST00000310336.4_Intron|NBEA_ENST00000537702.1_5'Flank	NM_005584.4	NP_005575.1	Q13394	MB211_HUMAN	mab-21-like 1 (C. elegans)	310					anatomical structure morphogenesis (GO:0009653)|camera-type eye development (GO:0043010)|positive regulation of cell proliferation (GO:0008284)	nucleus (GO:0005634)				breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	20		Breast(139;0.014)|Lung SC(185;0.051)|Prostate(109;0.202)		all cancers(112;9.63e-08)|Epithelial(112;1.37e-06)|BRCA - Breast invasive adenocarcinoma(63;0.000659)|OV - Ovarian serous cystadenocarcinoma(117;0.00372)|GBM - Glioblastoma multiforme(144;0.115)		GCACTGCAGGCAGGAGATAAG	0.537																																																	0													114.0	104.0	107.0					13																	36049347		2203	4300	6503	SO:0001583	missense	4081			BC028170	CCDS9353.1	13q13.3	2008-02-05	2001-11-28		ENSG00000180660	ENSG00000180660			6757	protein-coding gene	gene with protein product		601280	"""mab-21 (C. elegans)-like 1"""			8733127	Standard	NM_005584		Approved	CAGR1		Q13394	OTTHUMG00000016723	ENST00000379919.4:c.929G>A	13.37:g.36049347C>T	ENSP00000369251:p.Cys310Tyr	Somatic		WXS	Illumina HiSeq	Phase_IV	Q6I9T5	Missense_Mutation	SNP	pfam_Mab-21_dom	p.C310Y	ENST00000379919.4	37	c.929	CCDS9353.1	13	.	.	.	.	.	.	.	.	.	.	C	19.61	3.860065	0.71834	.	.	ENSG00000180660	ENST00000379919	T	0.16324	2.35	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	T	0.49508	0.1561	M	0.86805	2.84	0.80722	D	1	D	0.54964	0.969	D	0.73380	0.98	T	0.43475	-0.9389	10	0.33940	T	0.23	-19.2187	19.9576	0.97228	0.0:1.0:0.0:0.0	.	310	Q13394	MB211_HUMAN	Y	310	ENSP00000369251:C310Y	ENSP00000369251:C310Y	C	-	2	0	MAB21L1	34947347	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.818000	0.86416	2.736000	0.93811	0.655000	0.94253	TGC	MAB21L1	-	pfam_Mab-21_dom		0.537	MAB21L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAB21L1	HGNC	protein_coding	OTTHUMT00000044459.3	C	NM_005584		36049347	-1	no_errors	ENST00000379919	ensembl	human	known	70_37	missense	SNP	1.000	T
MACF1	23499	genome.wustl.edu	37	1	39753018	39753018	+	Silent	SNP	G	G	A			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr1:39753018G>A	ENST00000372915.3	+	14	1671	c.1584G>A	c.(1582-1584)cgG>cgA	p.R528R	MACF1_ENST00000564288.1_Silent_p.R523R|MACF1_ENST00000317713.7_Silent_p.R528R|MACF1_ENST00000567887.1_Silent_p.R560R|MACF1_ENST00000539005.1_Silent_p.R528R|MACF1_ENST00000545844.1_Silent_p.R528R|MACF1_ENST00000361689.2_Silent_p.R528R			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	528					ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|Golgi to plasma membrane protein transport (GO:0043001)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of epithelial cell migration (GO:0010632)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule-based process (GO:0032886)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			ACCTGTACCGGAAGGGTCATT	0.438																																																	0													191.0	168.0	176.0					1																	39753018		2203	4300	6503	SO:0001819	synonymous_variant	23499			AB007934	CCDS435.1	1p32-p31	2013-01-10			ENSG00000127603	ENSG00000127603		"""EF-hand domain containing"""	13664	protein-coding gene	gene with protein product	"""actin cross-linking factor"", ""620 kDa actin binding protein"", ""macrophin 1"", ""trabeculin-alpha"", ""actin cross-linking family protein 7"""	608271				7635207, 10529403	Standard	NM_012090		Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	Q9UPN3	OTTHUMG00000007754	ENST00000372915.3:c.1584G>A	1.37:g.39753018G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Silent	SNP	pfam_Spectrin_repeat,pfam_CH-domain,pfam_GAS2_dom,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_GAS2_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_EF_hand_Ca-bd,smart_GAS2_dom,pfscan_CH-domain,pfscan_EF_HAND_2	p.R528	ENST00000372915.3	37	c.1584		1																																																																																			MACF1	-	NULL		0.438	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	MACF1	HGNC	protein_coding	OTTHUMT00000392096.1	G	NM_033044		39753018	+1	no_errors	ENST00000317713	ensembl	human	known	70_37	silent	SNP	1.000	A
MACF1	23499	genome.wustl.edu	37	1	39950488	39950488	+	Intron	SNP	C	C	T			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr1:39950488C>T	ENST00000372915.3	+	96	21997				MACF1_ENST00000564288.1_Intron|MACF1_ENST00000317713.7_Intron|MACF1_ENST00000289893.4_Intron|MACF1_ENST00000567887.1_Intron|MACF1_ENST00000539005.1_Intron|MACF1_ENST00000545844.1_Intron|MACF1_ENST00000361689.2_Intron			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1						ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|Golgi to plasma membrane protein transport (GO:0043001)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of epithelial cell migration (GO:0010632)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule-based process (GO:0032886)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			TCCCAAGGAGCGGGTAATGAG	0.473																																																	0																																										SO:0001627	intron_variant	23499			AB007934	CCDS435.1	1p32-p31	2013-01-10			ENSG00000127603	ENSG00000127603		"""EF-hand domain containing"""	13664	protein-coding gene	gene with protein product	"""actin cross-linking factor"", ""620 kDa actin binding protein"", ""macrophin 1"", ""trabeculin-alpha"", ""actin cross-linking family protein 7"""	608271				7635207, 10529403	Standard	NM_012090		Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	Q9UPN3	OTTHUMG00000007754	ENST00000372915.3:c.21910+86C>T	1.37:g.39950488C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	RNA	SNP	-	NULL	ENST00000372915.3	37	NULL		1																																																																																			MACF1	-	-		0.473	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	MACF1	HGNC	protein_coding	OTTHUMT00000392096.1	C	NM_033044		39950488	+1	no_errors	ENST00000496360	ensembl	human	known	70_37	rna	SNP	0.000	T
MAGEB6	158809	genome.wustl.edu	37	X	26212649	26212649	+	Missense_Mutation	SNP	A	A	G			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chrX:26212649A>G	ENST00000379034.1	+	2	835	c.686A>G	c.(685-687)tAc>tGc	p.Y229C		NM_173523.2	NP_775794.2	Q8N7X4	MAGB6_HUMAN	melanoma antigen family B, 6	229	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.									breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|liver(1)|lung(18)|ovary(3)|prostate(2)	33						CGCAGAGAGTACAAGCCCTAC	0.493																																																	0													81.0	66.0	71.0					X																	26212649		2202	4300	6502	SO:0001583	missense	158809			AF320514	CCDS14217.1	Xp22.12	2009-03-17			ENSG00000176746	ENSG00000176746			23796	protein-coding gene	gene with protein product	"""cancer/testis antigen family 3, member 4"""	300467				10861452	Standard	NM_173523		Approved	FLJ40242, MAGE-B6, MAGEB6A, CT3.4	uc004dbr.3	Q8N7X4	OTTHUMG00000021285	ENST00000379034.1:c.686A>G	X.37:g.26212649A>G	ENSP00000368320:p.Tyr229Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q6GS19|Q9H219	Missense_Mutation	SNP	pfam_MAGE,pfam_Melanoma_ass_antigen_N,pfscan_MAGE	p.Y229C	ENST00000379034.1	37	c.686	CCDS14217.1	X	.	.	.	.	.	.	.	.	.	.	A	11.59	1.683868	0.29872	.	.	ENSG00000176746	ENST00000379034	T	0.05717	3.4	3.1	1.95	0.26073	.	0.000000	0.64402	U	0.000002	T	0.20333	0.0489	M	0.83953	2.67	0.09310	N	1	D	0.89917	1.0	D	0.91635	0.999	T	0.04041	-1.0982	10	0.59425	D	0.04	.	4.2953	0.10899	0.8389:0.0:0.1611:0.0	.	229	Q8N7X4	MAGB6_HUMAN	C	229	ENSP00000368320:Y229C	ENSP00000368320:Y229C	Y	+	2	0	MAGEB6	26122570	0.001000	0.12720	0.002000	0.10522	0.005000	0.04900	1.150000	0.31639	0.450000	0.26774	0.481000	0.45027	TAC	MAGEB6	-	pfam_MAGE,pfscan_MAGE		0.493	MAGEB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAGEB6	HGNC	protein_coding	OTTHUMT00000056123.1	A	NM_173523		26212649	+1	no_errors	ENST00000379034	ensembl	human	known	70_37	missense	SNP	0.002	G
MAGEC3	139081	genome.wustl.edu	37	X	140969244	140969244	+	Silent	SNP	T	T	C			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chrX:140969244T>C	ENST00000298296.1	+	4	571	c.571T>C	c.(571-573)Ttg>Ctg	p.L191L	MAGEC3_ENST00000443323.2_Intron|MAGEC3_ENST00000536088.1_Intron|MAGEC3_ENST00000448920.1_Intron	NM_138702.1	NP_619647.1	Q8TD91	MAGC3_HUMAN	melanoma antigen family C, 3	191	MAGE 1. {ECO:0000255|PROSITE- ProRule:PRU00127}.									NS(2)|breast(3)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|liver(1)|lung(32)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(2)	69	Acute lymphoblastic leukemia(192;6.56e-05)					GGTGGACAAGTTGGTGCAGTT	0.453																																																	0													132.0	127.0	128.0					X																	140969244		2203	4300	6503	SO:0001819	synonymous_variant	139081			AF490508	CCDS14676.1, CCDS14677.1	Xq27.2	2009-03-25			ENSG00000165509	ENSG00000165509			23798	protein-coding gene	gene with protein product	"""cancer/testis antigen family 7, member 2"""	300469				10861452	Standard	NM_138702		Approved	HCA2, MAGE-C3, CT7.2	uc011mwp.2	Q8TD91	OTTHUMG00000022570	ENST00000298296.1:c.571T>C	X.37:g.140969244T>C		Somatic		WXS	Illumina HiSeq	Phase_IV	Q3SYA7|Q5JZ43|Q9BZ80	Silent	SNP	pfam_MAGE,pfscan_MAGE	p.L191	ENST00000298296.1	37	c.571	CCDS14676.1	X																																																																																			MAGEC3	-	pfam_MAGE,pfscan_MAGE		0.453	MAGEC3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MAGEC3	HGNC	protein_coding	OTTHUMT00000058606.1	T	NM_138702		140969244	+1	no_errors	ENST00000298296	ensembl	human	known	70_37	silent	SNP	0.000	C
MAGEC1	9947	genome.wustl.edu	37	X	140995697	140995697	+	Missense_Mutation	SNP	C	C	T			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chrX:140995697C>T	ENST00000285879.4	+	4	2793	c.2507C>T	c.(2506-2508)tCc>tTc	p.S836F	MAGEC1_ENST00000406005.2_Intron	NM_005462.4	NP_005453.2	O60732	MAGC1_HUMAN	melanoma antigen family C, 1	836										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)					TCCTTCCCCTCCTCCACTTCA	0.557										HNSCC(15;0.026)																																							0													132.0	136.0	135.0					X																	140995697		2203	4300	6503	SO:0001583	missense	9947			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.2507C>T	X.37:g.140995697C>T	ENSP00000285879:p.Ser836Phe	Somatic		WXS	Illumina HiSeq	Phase_IV	A0PK03|O75451|Q8TCV4	Missense_Mutation	SNP	pfam_MAGE,pfscan_MAGE	p.S836F	ENST00000285879.4	37	c.2507	CCDS35417.1	X	.	.	.	.	.	.	.	.	.	.	-	9.053	0.992530	0.18966	.	.	ENSG00000155495	ENST00000285879	T	0.02345	4.33	0.548	0.548	0.17208	.	.	.	.	.	T	0.03263	0.0095	N	0.08118	0	0.58432	D	0.999999	D	0.55605	0.972	P	0.58013	0.831	T	0.59484	-0.7446	9	0.66056	D	0.02	.	6.7639	0.23556	0.0:0.9998:0.0:2.0E-4	.	836	O60732	MAGC1_HUMAN	F	836	ENSP00000285879:S836F	ENSP00000285879:S836F	S	+	2	0	MAGEC1	140823363	0.021000	0.18746	0.006000	0.13384	0.005000	0.04900	2.347000	0.44036	0.523000	0.28482	0.171000	0.16805	TCC	MAGEC1	-	NULL		0.557	MAGEC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MAGEC1	HGNC	protein_coding	OTTHUMT00000058604.1	C	NM_005462		140995697	+1	no_errors	ENST00000285879	ensembl	human	known	70_37	missense	SNP	0.708	T
MAMLD1	10046	genome.wustl.edu	37	X	149680843	149680843	+	3'UTR	SNP	C	C	A			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chrX:149680843C>A	ENST00000370401.2	+	0	3249				MAMLD1_ENST00000262858.5_3'UTR|MAMLD1_ENST00000426613.2_3'UTR|MAMLD1_ENST00000432680.2_Missense_Mutation_p.Q833K			Q13495	MAMD1_HUMAN	mastermind-like domain containing 1						male gonad development (GO:0008584)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				breast(1)|endometrium(4)|kidney(3)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)	37	Acute lymphoblastic leukemia(192;6.56e-05)					GATGGGAACACAAGTGCCCCT	0.617																																																	0																																										SO:0001624	3_prime_UTR_variant	10046			U46023	CCDS14693.2, CCDS55525.1, CCDS55526.1	Xq28	2008-02-05	2008-01-03	2008-01-03	ENSG00000013619	ENSG00000013619			2568	protein-coding gene	gene with protein product		300120	"""chromosome X open reading frame 6"""	CXorf6		9169146, 17086185, 18162467	Standard	NM_001177465		Approved	CG1, F18	uc011mxu.2	Q13495	OTTHUMG00000024157	ENST00000370401.2:c.*614C>A	X.37:g.149680843C>A		Somatic		WXS	Illumina HiSeq	Phase_IV	B2RCQ4|B4DG93|B9EGA5	Missense_Mutation	SNP	NULL	p.Q833K	ENST00000370401.2	37	c.2497	CCDS14693.2	X	.	.	.	.	.	.	.	.	.	.	-	7.742	0.701543	0.15172	.	.	ENSG00000013619	ENST00000432680	T	0.62498	0.02	4.49	0.136	0.14780	.	.	.	.	.	T	0.32763	0.0840	N	0.14661	0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.19321	-1.0309	9	0.06891	T	0.86	.	1.7115	0.02893	0.1662:0.3424:0.3244:0.1669	.	833	Q13495-3	.	K	833	ENSP00000414517:Q833K	ENSP00000414517:Q833K	Q	+	1	0	MAMLD1	149431501	0.007000	0.16637	0.002000	0.10522	0.016000	0.09150	0.834000	0.27518	-0.045000	0.13468	-0.718000	0.03613	CAA	MAMLD1	-	NULL		0.617	MAMLD1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MAMLD1	HGNC	protein_coding	OTTHUMT00000060844.2	C	NM_005491		149680843	+1	no_errors	ENST00000432680	ensembl	human	known	70_37	missense	SNP	0.000	A
MAN1B1	11253	genome.wustl.edu	37	9	139994210	139994210	+	Missense_Mutation	SNP	C	C	T	rs541409222		TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr9:139994210C>T	ENST00000371589.4	+	6	866	c.793C>T	c.(793-795)Cgc>Tgc	p.R265C	MAN1B1_ENST00000474902.1_5'UTR	NM_016219.4	NP_057303.2	Q9UKM7	MA1B1_HUMAN	mannosidase, alpha, class 1B, member 1	265					cellular protein metabolic process (GO:0044267)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|oligosaccharide metabolic process (GO:0009311)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum quality control compartment (GO:0044322)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|vesicle (GO:0031982)	calcium ion binding (GO:0005509)|mannosyl-oligosaccharide 1,2-alpha-mannosidase activity (GO:0004571)			autonomic_ganglia(1)|central_nervous_system(2)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|ovary(2)	14	all_cancers(76;0.0926)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.0878)	OV - Ovarian serous cystadenocarcinoma(145;3.08e-05)|Epithelial(140;0.000513)		GAAAGGATACCGCAAGTTTGC	0.572													C|||	1	0.000199681	0.0008	0.0	5008	,	,		23329	0.0		0.0	False		,,,				2504	0.0																0													261.0	194.0	217.0					9																	139994210		2203	4300	6503	SO:0001583	missense	11253			AF145732	CCDS7029.1	9q34.3	2014-05-27			ENSG00000177239	ENSG00000177239			6823	protein-coding gene	gene with protein product	"""endoplasmic reticulum alpha-mannosidase 1"", ""alpha 1,2-mannosidase"", ""endoplasmic reticulum mannosyl-oligosaccharide 1,2-alpha-mannosidase 1"", ""ER alpha 1,2-mannosidase"", ""Man9GlcNAc2-specific processing alpha-mannosidase"""	604346				10409699, 10521544	Standard	NM_016219		Approved	MANA-ER, MRT15	uc004cld.3	Q9UKM7	OTTHUMG00000020978	ENST00000371589.4:c.793C>T	9.37:g.139994210C>T	ENSP00000360645:p.Arg265Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q5VSG3|Q9BRS9|Q9Y5K7	Missense_Mutation	SNP	pfam_Glyco_hydro_47,superfamily_Glyco_hydro_47,prints_Glyco_hydro_47	p.R265C	ENST00000371589.4	37	c.793	CCDS7029.1	9	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	10.90|10.90	1.482028|1.482028	0.26598|0.26598	.|.	.|.	ENSG00000177239|ENSG00000177239	ENST00000535144|ENST00000371589	.|T	.|0.72725	.|-0.68	4.69|4.69	3.7|3.7	0.42460|0.42460	.|.	.|0.324184	.|0.23046	.|U	.|0.052548	D|D	0.82697|0.82697	0.5093|0.5093	M|M	0.89163|0.89163	3.01|3.01	0.80722|0.80722	D|D	1|1	.|D;P;P;P	.|0.89917	.|1.0;0.955;0.712;0.93	.|P;B;B;P	.|0.62089	.|0.898;0.321;0.117;0.506	D|D	0.84747|0.84747	0.0754|0.0754	5|9	.|.	.|.	.|.	-12.4438|-12.4438	9.4615|9.4615	0.38787|0.38787	0.4405:0.5595:0.0:0.0|0.4405:0.5595:0.0:0.0	.|.	.|166;229;265;166	.|B4DPS9;B4DR05;Q9UKM7;Q68D80	.|.;.;MA1B1_HUMAN;.	L|C	238|265	.|ENSP00000360645:R265C	.|.	P|R	+|+	2|1	0|0	MAN1B1|MAN1B1	139114031|139114031	1.000000|1.000000	0.71417|0.71417	0.757000|0.757000	0.31301|0.31301	0.039000|0.039000	0.13416|0.13416	1.542000|1.542000	0.36137|0.36137	2.172000|2.172000	0.68678|0.68678	0.491000|0.491000	0.48974|0.48974	CCG|CGC	MAN1B1	-	pfam_Glyco_hydro_47,superfamily_Glyco_hydro_47,prints_Glyco_hydro_47		0.572	MAN1B1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	MAN1B1	HGNC	protein_coding	OTTHUMT00000055294.2	C	NM_016219		139994210	+1	no_errors	ENST00000371589	ensembl	human	known	70_37	missense	SNP	0.996	T
MAP1S	55201	genome.wustl.edu	37	19	17838081	17838081	+	Missense_Mutation	SNP	G	G	A			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr19:17838081G>A	ENST00000324096.4	+	5	2039	c.1888G>A	c.(1888-1890)Gcc>Acc	p.A630T	CTD-3149D2.4_ENST00000595363.1_RNA|MAP1S_ENST00000597681.1_Intron|MAP1S_ENST00000544059.2_Missense_Mutation_p.A604T	NM_018174.4	NP_060644.4	Q66K74	MAP1S_HUMAN	microtubule-associated protein 1S	630	Necessary for the microtubule-organizing center localization.|Pro-rich.				apoptotic DNA fragmentation (GO:0006309)|brain development (GO:0007420)|execution phase of apoptosis (GO:0097194)|microtubule bundle formation (GO:0001578)|mitochondrion transport along microtubule (GO:0047497)|nervous system development (GO:0007399)|neuron projection morphogenesis (GO:0048812)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|microtubule (GO:0005874)|neuronal cell body (GO:0043025)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|synapse (GO:0045202)	actin filament binding (GO:0051015)|beta-tubulin binding (GO:0048487)|DNA binding (GO:0003677)|microtubule binding (GO:0008017)|tubulin binding (GO:0015631)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	25						GCCTTTGGCCGCCAGCTCAAT	0.731																																																	0													8.0	9.0	8.0					19																	17838081		2167	4250	6417	SO:0001583	missense	55201			BC067115	CCDS32954.1	19p13.12	2008-02-05	2006-07-04	2006-07-04		ENSG00000130479			15715	protein-coding gene	gene with protein product		607573	"""chromosome 19 open reading frame 5"", ""VCY2 interacting protein 1"", ""BPY2 interacting protein 1"""	C19orf5, VCY2IP1, BPY2IP1		11827465, 15528209, 16297881, 14627543	Standard	NM_018174		Approved	FLJ10669, MAP8	uc002nhe.1	Q66K74		ENST00000324096.4:c.1888G>A	19.37:g.17838081G>A	ENSP00000325313:p.Ala630Thr	Somatic		WXS	Illumina HiSeq	Phase_IV	B4DH53|Q27QB1|Q6NXF1|Q8N3L8|Q8N3W5|Q8NI88|Q96H94|Q96IT4|Q96SP8|Q9BRC6|Q9H928|Q9NVK7	Missense_Mutation	SNP	NULL	p.A630T	ENST00000324096.4	37	c.1888	CCDS32954.1	19	.	.	.	.	.	.	.	.	.	.	G	10.13	1.264501	0.23136	.	.	ENSG00000130479	ENST00000324096;ENST00000544059	T;T	0.19250	2.16;2.17	3.87	-7.05	0.01573	.	0.702810	0.12266	N	0.484226	T	0.07818	0.0196	N	0.12746	0.255	0.09310	N	1	B;B	0.06786	0.001;0.001	B;B	0.06405	0.0;0.002	T	0.25012	-1.0144	10	0.26408	T	0.33	-1.6142	6.1616	0.20368	0.5266:0.1756:0.2979:0.0	.	604;630	B4DH53;Q66K74	.;MAP1S_HUMAN	T	630;604	ENSP00000325313:A630T;ENSP00000439243:A604T	ENSP00000325313:A630T	A	+	1	0	MAP1S	17699081	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-2.459000	0.01000	-1.479000	0.01867	-0.350000	0.07774	GCC	MAP1S	-	NULL		0.731	MAP1S-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAP1S	HGNC	protein_coding	OTTHUMT00000466027.1	G	NM_018174		17838081	+1	no_errors	ENST00000324096	ensembl	human	known	70_37	missense	SNP	0.000	A
MAP3K1	4214	genome.wustl.edu	37	5	56184171	56184171	+	Missense_Mutation	SNP	C	C	T			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr5:56184171C>T	ENST00000399503.3	+	19	4376	c.4376C>T	c.(4375-4377)gCt>gTt	p.A1459V		NM_005921.1	NP_005912.1	Q13233	M3K1_HUMAN	mitogen-activated protein kinase kinase kinase 1, E3 ubiquitin protein ligase	1459	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPKK activity (GO:0000186)|apoptotic mitochondrial changes (GO:0008637)|cellular response to mechanical stimulus (GO:0071260)|epithelial cell morphogenesis (GO:0003382)|eyelid development in camera-type eye (GO:0061029)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|positive regulation of actin filament polymerization (GO:0030838)|protein phosphorylation (GO:0006468)|regulation of cell migration (GO:0030334)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	cytosol (GO:0005829)	ATP binding (GO:0005524)|JUN kinase kinase activity (GO:0008545)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|zinc ion binding (GO:0008270)			NS(1)|breast(19)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(8)|lung(11)|ovary(1)|skin(3)|urinary_tract(1)	57		Lung NSC(810;4.65e-05)|Prostate(74;0.0132)|Breast(144;0.0321)|Ovarian(174;0.223)		OV - Ovarian serous cystadenocarcinoma(10;6.08e-40)		AATCATCTTGCTTTGATATTT	0.383																																																	0													113.0	104.0	107.0					5																	56184171		1847	4089	5936	SO:0001583	missense	4214			U29671, AF042838	CCDS43318.1	5q11.2	2012-02-23	2012-02-23		ENSG00000095015	ENSG00000095015		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6848	protein-coding gene	gene with protein product		600982	"""mitogen-activated protein kinase kinase kinase 1"""	MEKK1		8597633	Standard	NM_005921		Approved	MEKK, MAPKKK1	uc003jqw.4	Q13233	OTTHUMG00000059486	ENST00000399503.3:c.4376C>T	5.37:g.56184171C>T	ENSP00000382423:p.Ala1459Val	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Znf_RING,pfscan_Znf_SWIM,pfscan_Prot_kinase_cat_dom	p.A1459V	ENST00000399503.3	37	c.4376	CCDS43318.1	5	.	.	.	.	.	.	.	.	.	.	C	32	5.135099	0.94517	.	.	ENSG00000095015	ENST00000399503	T	0.65916	-0.18	5.94	5.94	0.96194	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	0.85682	D	0.000000	T	0.71281	0.3321	N	0.26092	0.79	0.80722	D	1	D	0.69078	0.997	D	0.75020	0.985	T	0.72947	-0.4137	10	0.66056	D	0.02	.	20.3552	0.98837	0.0:1.0:0.0:0.0	.	1459	Q13233	M3K1_HUMAN	V	1459	ENSP00000382423:A1459V	ENSP00000382423:A1459V	A	+	2	0	MAP3K1	56219928	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.806000	0.75195	2.812000	0.96745	0.557000	0.71058	GCT	MAP3K1	-	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		0.383	MAP3K1-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	MAP3K1	HGNC	protein_coding	OTTHUMT00000132309.2	C	XM_042066		56184171	+1	no_errors	ENST00000399503	ensembl	human	novel	70_37	missense	SNP	1.000	T
MAP3K10	4294	genome.wustl.edu	37	19	40710431	40710431	+	Silent	SNP	C	C	T			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr19:40710431C>T	ENST00000253055.3	+	3	1191	c.903C>T	c.(901-903)gtC>gtT	p.V301V	MAP3K10_ENST00000593906.1_3'UTR|AC118344.1_ENST00000408124.1_RNA	NM_002446.3	NP_002437.2	Q02779	M3K10_HUMAN	mitogen-activated protein kinase kinase kinase 10	301	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of JNKK activity (GO:0007256)|activation of JUN kinase activity (GO:0007257)|apoptotic process (GO:0006915)|JNK cascade (GO:0007254)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription, DNA-templated (GO:0045892)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of apoptotic process (GO:0043065)|positive regulation of JNK cascade (GO:0046330)|positive regulation of JUN kinase activity (GO:0043507)|protein autophosphorylation (GO:0046777)|signal transduction (GO:0007165)|smoothened signaling pathway (GO:0007224)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|bHLH transcription factor binding (GO:0043425)|JUN kinase kinase kinase activity (GO:0004706)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|transcription corepressor activity (GO:0003714)			NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	24						CGGGGGAGGTCCCCTACCGTG	0.657																																																	0													95.0	63.0	74.0					19																	40710431		2203	4300	6503	SO:0001819	synonymous_variant	4294			X90846	CCDS12549.1	19q13.2	2014-08-12			ENSG00000130758		2.7.11.1	"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6849	protein-coding gene	gene with protein product	"""MKN28 kinase"", ""mixed lineage kinase 2"", ""MKN28 derived nonreceptor_type serine/threonine kinase"""	600137		MLK2		8536694, 7731697	Standard	NM_002446		Approved	MST, MEKK10	uc002ona.3	Q02779	OTTHUMG00000182591	ENST00000253055.3:c.903C>T	19.37:g.40710431C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q12761|Q14871	Silent	SNP	pirsf_MAPKKK9/10/11,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_SH3_2,pfam_SH3_domain,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH3_domain,pfscan_SH3_domain,pfscan_Prot_kinase_cat_dom	p.V301	ENST00000253055.3	37	c.903	CCDS12549.1	19																																																																																			MAP3K10	-	pirsf_MAPKKK9/10/11,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom		0.657	MAP3K10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAP3K10	HGNC	protein_coding	OTTHUMT00000462552.1	C	NM_002446		40710431	+1	no_errors	ENST00000253055	ensembl	human	known	70_37	silent	SNP	0.998	T
MAP3K5	4217	genome.wustl.edu	37	6	136888803	136888803	+	Missense_Mutation	SNP	C	C	T			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr6:136888803C>T	ENST00000359015.4	-	26	4087	c.3727G>A	c.(3727-3729)Gta>Ata	p.V1243I	MAP3K5_ENST00000355845.4_Missense_Mutation_p.V490I	NM_005923.3	NP_005914.1	Q99683	M3K5_HUMAN	mitogen-activated protein kinase kinase kinase 5	1243					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of JUN kinase activity (GO:0007257)|activation of MAPKK activity (GO:0000186)|apoptotic signaling pathway (GO:0097190)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to reactive nitrogen species (GO:1902170)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|JNK cascade (GO:0007254)|MAPK cascade (GO:0000165)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of neuron death (GO:1901216)|programmed necrotic cell death (GO:0097300)|protein phosphorylation (GO:0006468)|response to ischemia (GO:0002931)|viral process (GO:0016032)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|protein kinase complex (GO:1902911)	ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|magnesium ion binding (GO:0000287)|MAP kinase kinase kinase activity (GO:0004709)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein phosphatase binding (GO:0019903)			NS(1)|breast(1)|cervix(1)|endometrium(8)|kidney(6)|large_intestine(6)|lung(24)|ovary(2)|prostate(1)|skin(4)|urinary_tract(4)	58	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.00137)|OV - Ovarian serous cystadenocarcinoma(155;0.00569)		CCAAGCTGTACATTCAGTGAC	0.448																																																	0													99.0	86.0	90.0					6																	136888803		2203	4300	6503	SO:0001583	missense	4217			U67156	CCDS5179.1	6q22.33	2011-06-09			ENSG00000197442	ENSG00000197442		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6857	protein-coding gene	gene with protein product	"""apoptosis signal regulating kinase 1"""	602448		MEKK5		9465908	Standard	NM_005923		Approved	MAPKKK5, ASK1	uc003qhc.3	Q99683	OTTHUMG00000015647	ENST00000359015.4:c.3727G>A	6.37:g.136888803C>T	ENSP00000351908:p.Val1243Ile	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NIA0|B4DGB2|Q5THN3|Q99461	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_SAM/pointed,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.V1243I	ENST00000359015.4	37	c.3727	CCDS5179.1	6	.	.	.	.	.	.	.	.	.	.	C	8.936	0.964540	0.18583	.	.	ENSG00000197442	ENST00000359015;ENST00000355845	T;T	0.70986	-0.4;-0.53	5.38	1.54	0.23209	.	0.267481	0.42053	N	0.000768	T	0.37183	0.0994	L	0.43152	1.355	0.30942	N	0.725676	B;B	0.20887	0.049;0.001	B;B	0.16722	0.016;0.002	T	0.11397	-1.0589	10	0.37606	T	0.19	.	6.3468	0.21353	0.1297:0.6618:0.0:0.2084	.	1324;1243	Q59GL6;Q99683	.;M3K5_HUMAN	I	1243;490	ENSP00000351908:V1243I;ENSP00000348104:V490I	ENSP00000348104:V490I	V	-	1	0	MAP3K5	136930496	1.000000	0.71417	0.048000	0.18961	0.922000	0.55478	1.820000	0.39032	-0.006000	0.14370	0.555000	0.69702	GTA	MAP3K5	-	NULL		0.448	MAP3K5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAP3K5	HGNC	protein_coding	OTTHUMT00000042383.1	C			136888803	-1	no_errors	ENST00000359015	ensembl	human	known	70_37	missense	SNP	0.665	T
MAP3K6	9064	genome.wustl.edu	37	1	27683127	27683127	+	Missense_Mutation	SNP	C	C	T	rs199627707		TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr1:27683127C>T	ENST00000493901.1	-	26	3717	c.3478G>A	c.(3478-3480)Gct>Act	p.A1160T	MAP3K6_ENST00000374040.3_Missense_Mutation_p.A1152T|MAP3K6_ENST00000357582.2_Missense_Mutation_p.A1160T	NM_004672.3	NP_004663.3	O95382	M3K6_HUMAN	mitogen-activated protein kinase kinase kinase 6	1160					activation of JUN kinase activity (GO:0007257)|activation of MAPKK activity (GO:0000186)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)		ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|MAP kinase kinase kinase activity (GO:0004709)			breast(4)|central_nervous_system(2)|lung(3)|ovary(1)	10		all_lung(284;1.6e-05)|Lung NSC(340;2.92e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.0175)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.69e-27)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00132)|KIRC - Kidney renal clear cell carcinoma(1967;0.00163)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)		ATCAGAGGAGCGGGGCCCTGC	0.637													C|||	1	0.000199681	0.0	0.0	5008	,	,		15493	0.001		0.0	False		,,,				2504	0.0																0													36.0	39.0	38.0					1																	27683127		2203	4300	6503	SO:0001583	missense	9064			AF100318	CCDS299.1, CCDS72738.1	1p36.11	2011-06-09			ENSG00000142733	ENSG00000142733		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6858	protein-coding gene	gene with protein product	"""apoptosis signal regulating kinase 2"""	604468				9875215	Standard	XM_005246029		Approved	MAPKKK6, ASK2, MEKK6	uc001bny.1	O95382	OTTHUMG00000004631	ENST00000493901.1:c.3478G>A	1.37:g.27683127C>T	ENSP00000419591:p.Ala1160Thr	Somatic		WXS	Illumina HiSeq	Phase_IV	A2ACE8|A2VDG4|A2VDG5|Q59HF4|Q5SSD4|Q75PK3|Q96B75	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_SAM/pointed,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.A1160T	ENST00000493901.1	37	c.3478	CCDS299.1	1	.	.	.	.	.	.	.	.	.	.	C	10.15	1.271444	0.23221	.	.	ENSG00000142733	ENST00000374040;ENST00000493901;ENST00000357582	T;T;T	0.66099	-0.19;-0.19;-0.19	5.31	2.37	0.29283	.	.	.	.	.	T	0.35278	0.0926	N	0.08118	0	0.09310	N	1	B;B	0.22604	0.072;0.043	B;B	0.19666	0.026;0.012	T	0.22452	-1.0216	9	0.13470	T	0.59	.	5.9713	0.19353	0.1661:0.3024:0.5315:0.0	.	1152;1160	O95382-3;O95382	.;M3K6_HUMAN	T	1152;1160;1160	ENSP00000363152:A1152T;ENSP00000419591:A1160T;ENSP00000350195:A1160T	ENSP00000350195:A1160T	A	-	1	0	MAP3K6	27555714	0.490000	0.26012	0.011000	0.14972	0.300000	0.27592	1.641000	0.37197	0.225000	0.20959	-1.303000	0.01326	GCT	MAP3K6	-	NULL		0.637	MAP3K6-001	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	MAP3K6	HGNC	protein_coding	OTTHUMT00000013469.2	C	NM_004672		27683127	-1	no_errors	ENST00000357582	ensembl	human	known	70_37	missense	SNP	0.073	T
MAP3K6	9064	genome.wustl.edu	37	1	27690446	27690446	+	Missense_Mutation	SNP	T	T	A			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr1:27690446T>A	ENST00000493901.1	-	6	1065	c.826A>T	c.(826-828)Atc>Ttc	p.I276F	MAP3K6_ENST00000374040.3_Missense_Mutation_p.I268F|MAP3K6_ENST00000357582.2_Missense_Mutation_p.I276F	NM_004672.3	NP_004663.3	O95382	M3K6_HUMAN	mitogen-activated protein kinase kinase kinase 6	276					activation of JUN kinase activity (GO:0007257)|activation of MAPKK activity (GO:0000186)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)		ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|MAP kinase kinase kinase activity (GO:0004709)			breast(4)|central_nervous_system(2)|lung(3)|ovary(1)	10		all_lung(284;1.6e-05)|Lung NSC(340;2.92e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.0175)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0416)|OV - Ovarian serous cystadenocarcinoma(117;1.69e-27)|Colorectal(126;1.24e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|BRCA - Breast invasive adenocarcinoma(304;0.00132)|KIRC - Kidney renal clear cell carcinoma(1967;0.00163)|STAD - Stomach adenocarcinoma(196;0.00303)|READ - Rectum adenocarcinoma(331;0.0419)		TTCATGATGATGTCGGGGCTC	0.627																																																	0													57.0	54.0	55.0					1																	27690446		2203	4300	6503	SO:0001583	missense	9064			AF100318	CCDS299.1, CCDS72738.1	1p36.11	2011-06-09			ENSG00000142733	ENSG00000142733		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6858	protein-coding gene	gene with protein product	"""apoptosis signal regulating kinase 2"""	604468				9875215	Standard	XM_005246029		Approved	MAPKKK6, ASK2, MEKK6	uc001bny.1	O95382	OTTHUMG00000004631	ENST00000493901.1:c.826A>T	1.37:g.27690446T>A	ENSP00000419591:p.Ile276Phe	Somatic		WXS	Illumina HiSeq	Phase_IV	A2ACE8|A2VDG4|A2VDG5|Q59HF4|Q5SSD4|Q75PK3|Q96B75	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_SAM/pointed,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.I276F	ENST00000493901.1	37	c.826	CCDS299.1	1	.	.	.	.	.	.	.	.	.	.	T	22.2	4.260720	0.80246	.	.	ENSG00000142733	ENST00000374040;ENST00000493901;ENST00000357582	T;T;T	0.13778	2.56;2.56;2.56	5.29	4.17	0.49024	.	.	.	.	.	T	0.32526	0.0832	M	0.72353	2.195	0.51482	D	0.999924	D;D	0.76494	0.999;0.999	D;D	0.75484	0.976;0.986	T	0.02226	-1.1192	8	.	.	.	.	9.3935	0.38388	0.0:0.0811:0.0:0.9189	.	268;276	O95382-3;O95382	.;M3K6_HUMAN	F	268;276;276	ENSP00000363152:I268F;ENSP00000419591:I276F;ENSP00000350195:I276F	.	I	-	1	0	MAP3K6	27563033	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	3.291000	0.51764	1.047000	0.40274	0.533000	0.62120	ATC	MAP3K6	-	NULL		0.627	MAP3K6-001	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	MAP3K6	HGNC	protein_coding	OTTHUMT00000013469.2	T	NM_004672		27690446	-1	no_errors	ENST00000357582	ensembl	human	known	70_37	missense	SNP	1.000	A
MAPK8IP3	23162	genome.wustl.edu	37	16	1818599	1818599	+	Silent	SNP	C	C	T			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr16:1818599C>T	ENST00000250894.4	+	31	4018	c.3861C>T	c.(3859-3861)ggC>ggT	p.G1287G	MAPK8IP3_ENST00000356010.5_Silent_p.G1281G	NM_015133.3	NP_055948.2	Q9UPT6	JIP3_HUMAN	mitogen-activated protein kinase 8 interacting protein 3	1287					activation of JUN kinase activity (GO:0007257)|axon guidance (GO:0007411)|forebrain development (GO:0030900)|in utero embryonic development (GO:0001701)|lung alveolus development (GO:0048286)|lung morphogenesis (GO:0060425)|positive regulation of neuron differentiation (GO:0045666)|post-embryonic development (GO:0009791)|protein localization (GO:0008104)|regulation of gene expression (GO:0010468)|regulation of JNK cascade (GO:0046328)|respiratory gaseous exchange (GO:0007585)|vesicle-mediated transport (GO:0016192)	axolemma (GO:0030673)|dendrite (GO:0030425)|Golgi membrane (GO:0000139)|smooth endoplasmic reticulum (GO:0005790)	kinesin binding (GO:0019894)|MAP-kinase scaffold activity (GO:0005078)			NS(1)|breast(3)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|prostate(2)|skin(2)|urinary_tract(3)	42						TGCTGAGCGGCGGGGAGGGCT	0.706																																																	0													17.0	28.0	24.0					16																	1818599		2036	4170	6206	SO:0001819	synonymous_variant	23162			AB028989	CCDS10442.2, CCDS45379.1	16p13.3	2009-11-23			ENSG00000138834	ENSG00000138834			6884	protein-coding gene	gene with protein product	"""homolog of Drosophila Sunday driver 2"""	605431				10523642, 10629060	Standard	XM_005255187		Approved	KIAA1066, JSAP1, JIP3, syd	uc002cmk.3	Q9UPT6	OTTHUMG00000128637	ENST00000250894.4:c.3861C>T	16.37:g.1818599C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A2A2B3|A7E2B3|Q96RY4|Q9H4I4|Q9H7P1|Q9NUG0	Silent	SNP	pfam_JNK/Rab-associated_protein-1_N,superfamily_WD40_repeat_dom	p.G1287	ENST00000250894.4	37	c.3861	CCDS10442.2	16																																																																																			MAPK8IP3	-	NULL		0.706	MAPK8IP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MAPK8IP3	HGNC	protein_coding	OTTHUMT00000250508.2	C	NM_001040439		1818599	+1	no_errors	ENST00000250894	ensembl	human	known	70_37	silent	SNP	0.639	T
MARVELD3	91862	genome.wustl.edu	37	16	71674336	71674336	+	Silent	SNP	C	C	T			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr16:71674336C>T	ENST00000299952.4	+	3	682	c.639C>T	c.(637-639)ctC>ctT	p.L213L	PHLPP2_ENST00000540628.1_Intron|MARVELD3_ENST00000565261.1_3'UTR|MARVELD3_ENST00000561682.1_Intron	NM_001017967.3|NM_001271329.1	NP_001017967.2|NP_001258258.1	Q96A59	MALD3_HUMAN	MARVEL domain containing 3	213	MARVEL. {ECO:0000255|PROSITE- ProRule:PRU00581}.				cell-cell junction organization (GO:0045216)|tight junction assembly (GO:0070830)	cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|tight junction (GO:0005923)				NS(1)|endometrium(3)|large_intestine(5)|lung(6)|skin(2)	17		Ovarian(137;0.125)				GGATGGTTCTCATATGCATCG	0.532																																																	0													201.0	166.0	178.0					16																	71674336		2198	4300	6498	SO:0001819	synonymous_variant	91862			BC013376	CCDS10904.1, CCDS32478.1, CCDS59270.1	16q22.2	2008-02-05	2004-07-12	2004-07-14	ENSG00000140832	ENSG00000140832			30525	protein-coding gene	gene with protein product		614094	"""MARVEL (membrane-associating) domain containing 3"""	MRVLDC3			Standard	NM_001017967		Approved		uc002fat.4	Q96A59	OTTHUMG00000137591	ENST00000299952.4:c.639C>T	16.37:g.71674336C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A8K820|H3BQM5|Q96MJ4	Silent	SNP	NULL	p.L213	ENST00000299952.4	37	c.639	CCDS32478.1	16																																																																																			MARVELD3	-	NULL		0.532	MARVELD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MARVELD3	HGNC	protein_coding	OTTHUMT00000268990.1	C	NM_052858		71674336	+1	no_errors	ENST00000299952	ensembl	human	known	70_37	silent	SNP	1.000	T
MBOAT7	79143	genome.wustl.edu	37	19	54691188	54691188	+	Intron	SNP	C	C	T	rs368759421	byFrequency	TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr19:54691188C>T	ENST00000245615.1	-	4	687				MBOAT7_ENST00000391754.1_Intron|MBOAT7_ENST00000474910.1_Intron|TSEN34_ENST00000302937.4_5'Flank|MBOAT7_ENST00000338624.6_Intron|MBOAT7_ENST00000431666.2_Intron|TSEN34_ENST00000429671.2_5'Flank	NM_024298.3	NP_077274.3	Q96N66	MBOA7_HUMAN	membrane bound O-acyltransferase domain containing 7						glycerophospholipid biosynthetic process (GO:0046474)|layer formation in cerebral cortex (GO:0021819)|phosphatidylinositol acyl-chain remodeling (GO:0036149)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|ventricular system development (GO:0021591)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	lysophospholipid acyltransferase activity (GO:0071617)			endometrium(4)|large_intestine(1)|lung(3)|prostate(1)|skin(1)	10	all_cancers(19;0.0065)|all_epithelial(19;0.00348)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)					AAGCAGGAGGCGCACTGTGTT	0.607													C|||	3	0.000599042	0.0008	0.0	5008	,	,		18674	0.0		0.002	False		,,,				2504	0.0				NSCLC(97;826 2151 10470 22540)												0								C	,,,	2,4388		0,2,2193	51.0	59.0	56.0		,,,	-1.9	0.0	19		56	1,8593		0,1,4296	no	intron,intron,intron,intron	MBOAT7	NM_001146056.1,NM_001146082.1,NM_001146083.1,NM_024298.3	,,,	0,3,6489	TT,TC,CC		0.0116,0.0456,0.0231	,,,	,,,	54691188	3,12981	2195	4297	6492	SO:0001627	intron_variant	79143			AF211969	CCDS12883.1, CCDS54315.1, CCDS54316.1	19q13.4	2008-12-15	2008-01-17	2008-01-17	ENSG00000125505	ENSG00000125505			15505	protein-coding gene	gene with protein product	"""lysophosphatidylinositol acyltransferase"""	606048	"""leukocyte receptor cluster (LRC) member 4"""	LENG4		10941842, 8702217, 18094042	Standard	NM_024298		Approved	BB1, hMBOA-7, LPIAT	uc002qdr.3	Q96N66	OTTHUMG00000066516	ENST00000245615.1:c.207-19G>A	19.37:g.54691188C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A9C4B6|B0V3I5|B4DQ87|Q05DF0|Q7L5N2|Q99908|Q9BPV2|Q9BRE9	RNA	SNP	-	NULL	ENST00000245615.1	37	NULL	CCDS12883.1	19																																																																																			MBOAT7	-	-		0.607	MBOAT7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MBOAT7	HGNC	protein_coding	OTTHUMT00000142203.1	C	NM_024298		54691188	-1	no_errors	ENST00000495968	ensembl	human	known	70_37	rna	SNP	0.000	T
MDGA1	266727	genome.wustl.edu	37	6	37619916	37619916	+	Missense_Mutation	SNP	C	C	T	rs373379741		TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr6:37619916C>T	ENST00000434837.3	-	7	2361	c.1183G>A	c.(1183-1185)Gca>Aca	p.A395T	MDGA1_ENST00000505425.1_Missense_Mutation_p.A395T|MDGA1_ENST00000297153.7_Missense_Mutation_p.A395T	NM_153487.3	NP_705691.1	Q8NFP4	MDGA1_HUMAN	MAM domain containing glycosylphosphatidylinositol anchor 1	395	Ig-like 4.				brain development (GO:0007420)|cerebral cortex radially oriented cell migration (GO:0021799)|neuron migration (GO:0001764)|spinal cord association neuron differentiation (GO:0021527)	anchored component of plasma membrane (GO:0046658)|extracellular space (GO:0005615)				central_nervous_system(2)|endometrium(6)|kidney(3)|large_intestine(12)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	38						CTGGTGACTGCGGGCAGCTCA	0.602																																																	0								C	THR/ALA	2,4066		0,2,2032	56.0	60.0	59.0		1183	4.4	0.6	6		59	2,8352		0,2,4175	no	missense	MDGA1	NM_153487.3	58	0,4,6207	TT,TC,CC		0.0239,0.0492,0.0322	benign	395/956	37619916	4,12418	2034	4177	6211	SO:0001583	missense	266727			AF478693	CCDS47417.1	6p21	2013-01-29			ENSG00000112139	ENSG00000112139		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	19267	protein-coding gene	gene with protein product		609626				15922729, 15019943	Standard	NM_153487		Approved	GPIM, MAMDC3	uc003onu.1	Q8NFP4	OTTHUMG00000014626	ENST00000434837.3:c.1183G>A	6.37:g.37619916C>T	ENSP00000402584:p.Ala395Thr	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NHG0|Q8NBE3	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_MAM_dom,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_MAM_dom,pfscan_Fibronectin_type3,pfscan_MAM_dom,pfscan_Ig-like	p.A395T	ENST00000434837.3	37	c.1183	CCDS47417.1	6	.	.	.	.	.	.	.	.	.	.	C	20.6	4.025404	0.75390	4.92E-4	2.39E-4	ENSG00000112139	ENST00000434837;ENST00000297153;ENST00000505425	T;T;T	0.54279	0.58;0.73;0.59	5.36	4.44	0.53790	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.134588	0.33753	N	0.004596	T	0.30665	0.0772	L	0.29908	0.895	0.44402	D	0.997317	D	0.53151	0.958	B	0.43889	0.435	T	0.16364	-1.0405	10	0.49607	T	0.09	.	12.5893	0.56434	0.0:0.6721:0.3279:0.0	.	395	Q8NFP4	MDGA1_HUMAN	T	395	ENSP00000402584:A395T;ENSP00000297153:A395T;ENSP00000422042:A395T	ENSP00000297153:A395T	A	-	1	0	MDGA1	37727894	1.000000	0.71417	0.632000	0.29296	0.753000	0.42808	5.758000	0.68776	2.524000	0.85096	0.655000	0.94253	GCA	MDGA1	-	pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like		0.602	MDGA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MDGA1	HGNC	protein_coding	OTTHUMT00000040419.3	C			37619916	-1	no_errors	ENST00000297153	ensembl	human	known	70_37	missense	SNP	0.996	T
MED12L	116931	genome.wustl.edu	37	3	151130966	151130966	+	Silent	SNP	C	C	T			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr3:151130966C>T	ENST00000474524.1	+	40	6113	c.6075C>T	c.(6073-6075)ggC>ggT	p.G2025G	MED12L_ENST00000273432.4_Intron	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	2025	Gln-rich.					mediator complex (GO:0016592)	RNA polymerase II transcription cofactor activity (GO:0001104)			NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			CTCTGGTGGGCGGGGGAATTG	0.532																																																	0													78.0	74.0	76.0					3																	151130966		2203	4300	6503	SO:0001819	synonymous_variant	116931			AB046855, AF388364	CCDS33876.1	3q25.1	2007-07-30	2007-07-30		ENSG00000144893	ENSG00000144893			16050	protein-coding gene	gene with protein product		611318	"""mediator of RNA polymerase II transcription, subunit 12 homolog (S. cerevisiae)-like"""			11524702	Standard	XM_006713487		Approved	KIAA1635, TNRC11L, TRALPUSH, TRALP	uc003eyp.3	Q86YW9	OTTHUMG00000159844	ENST00000474524.1:c.6075C>T	3.37:g.151130966C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q96PC7|Q96PC8|Q9H9M5|Q9HCD7|Q9UI69	Silent	SNP	pfam_Mediator_Med12_LCEWAV,pfam_Mediator_Med12,pfam_Mediator_Med12_catenin-bd	p.G2025	ENST00000474524.1	37	c.6075	CCDS33876.1	3																																																																																			MED12L	-	NULL		0.532	MED12L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MED12L	HGNC	protein_coding	OTTHUMT00000357707.2	C	NM_053002		151130966	+1	no_errors	ENST00000474524	ensembl	human	known	70_37	silent	SNP	0.160	T
MED15	51586	genome.wustl.edu	37	22	20920813	20920814	+	In_Frame_Ins	INS	-	-	CAG	rs67182670|rs361923|rs535773989|rs539945336	byFrequency	TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr22:20920813_20920814insCAG	ENST00000263205.7	+	7	819_820	c.750_751insCAG	c.(751-753)cag>CAGcag	p.251_251Q>QQ	MED15_ENST00000292733.7_In_Frame_Ins_p.251_251Q>QQ|MED15_ENST00000382974.2_In_Frame_Ins_p.180_180Q>QQ|MED15_ENST00000425759.2_In_Frame_Ins_p.140_140Q>QQ|MED15_ENST00000478831.1_3'UTR|MED15_ENST00000541476.1_In_Frame_Ins_p.225_225Q>QQ|MED15_ENST00000406969.1_In_Frame_Ins_p.225_225Q>QQ|MED15_ENST00000542773.1_In_Frame_Ins_p.56_56Q>QQ	NM_001003891.1	NP_001003891.1	Q96RN5	MED15_HUMAN	mediator complex subunit 15	251	Poly-Gln.			Missing (in Ref. 3; BAB85034). {ECO:0000305}.	gene expression (GO:0010467)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	RNA polymerase II transcription cofactor activity (GO:0001104)	p.Q250_Q251insQ(4)		central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	25	all_cancers(11;2.07e-24)|Melanoma(16;0.000465)|Ovarian(15;0.00167)|Colorectal(54;0.0221)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.00102)|Lung(15;0.0173)|Epithelial(17;0.209)			aacaacagcaacagcagcagca	0.589																																																	4	Insertion - In frame(4)	ovary(2)|large_intestine(2)																																								SO:0001652	inframe_insertion	51586			AF056191	CCDS13781.1, CCDS33602.1, CCDS74824.1	22q11.2	2007-07-30	2007-07-30	2007-07-30	ENSG00000099917	ENSG00000099917			14248	protein-coding gene	gene with protein product		607372	"""trinucleotide repeat containing 7"", ""PC2 (positive cofactor 2, multiprotein complex) glutamine/Q-rich-associated protein"""	TNRC7, PCQAP		11024300, 11414760, 15175163	Standard	XM_005261632		Approved	TIG-1, CAG7A, Arc105	uc002zsp.3	Q96RN5	OTTHUMG00000150810	ENST00000263205.7:c.784_786dupCAG	22.37:g.20920820_20920822dupCAG	ENSP00000263205:p.Gln262dup	Somatic		WXS	Illumina HiSeq	Phase_IV	D3DX31|D3DX32|O15413|Q6IC31|Q8NF16|Q96CT0|Q96IH7|Q9P1T3	In_Frame_Ins	INS	pfam_Mediator_Med15_met	p.254in_frame_insQ	ENST00000263205.7	37	c.750_751	CCDS33602.1	22																																																																																			MED15	-	pfam_Mediator_Med15_met		0.589	MED15-004	KNOWN	basic|CCDS	protein_coding	MED15	HGNC	protein_coding	OTTHUMT00000320177.2	-	NM_015889		20920814	+1	no_errors	ENST00000263205	ensembl	human	known	70_37	in_frame_ins	INS	0.993:0.998	CAG
MEF2BNB	729991	genome.wustl.edu	37	19	19293486	19293486	+	Silent	SNP	C	C	T			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr19:19293486C>T	ENST00000462790.3	-	4	693	c.222G>A	c.(220-222)gtG>gtA	p.V74V	MEF2BNB-MEF2B_ENST00000514819.3_5'UTR|MEF2BNB_ENST00000494489.2_5'UTR|MEF2BNB-MEF2B_ENST00000444486.3_5'UTR|MEF2BNB_ENST00000477565.3_Silent_p.V74V|MEF2BNB-MEF2B_ENST00000602276.1_5'Flank|MEF2B_ENST00000162023.5_5'UTR|MEF2B_ENST00000602424.2_5'UTR|MEF2BNB_ENST00000585679.1_5'UTR	NM_001145784.1	NP_001139256.1	Q96FH0	MF2NB_HUMAN	MEF2B neighbor	74					heart development (GO:0007507)												CCAGGTTCTTCACGGCGCTGA	0.632																																																	0													57.0	46.0	50.0					19																	19293486		692	1591	2283	SO:0001819	synonymous_variant	4207				CCDS46025.1, CCDS54235.1	19p13.11	2011-04-19			ENSG00000254901	ENSG00000254901			37247	protein-coding gene	gene with protein product							Standard	NM_001145783		Approved		uc002nlq.3	Q96FH0	OTTHUMG00000166546	ENST00000462790.3:c.222G>A	19.37:g.19293486C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B2RXF9|Q9BT01	Silent	SNP	pfam_UPF0402_NEP	p.V74	ENST00000462790.3	37	c.222	CCDS46025.1	19																																																																																			MEF2BNB-MEF2B	-	pfam_UPF0402_NEP		0.632	MEF2BNB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MEF2BNB-MEF2B	HGNC	protein_coding	OTTHUMT00000336091.4	C			19293486	-1	no_errors	ENST00000354191	ensembl	human	known	70_37	silent	SNP	0.999	T
MEF2D	4209	genome.wustl.edu	37	1	156436093	156436093	+	3'UTR	DEL	A	A	-			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr1:156436093delA	ENST00000348159.4	-	0	3390				MEF2D_ENST00000368240.2_3'UTR|MEF2D_ENST00000353795.3_3'UTR|MEF2D_ENST00000360595.3_3'UTR|MEF2D_ENST00000464356.2_3'UTR|MEF2D_ENST00000340875.5_3'UTR	NM_005920.2	NP_005911.1	Q14814	MEF2D_HUMAN	myocyte enhancer factor 2D						adult heart development (GO:0007512)|apoptotic process (GO:0006915)|chondrocyte differentiation (GO:0002062)|endochondral ossification (GO:0001958)|muscle organ development (GO:0007517)|nervous system development (GO:0007399)|osteoblast differentiation (GO:0001649)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|skeletal muscle cell differentiation (GO:0035914)|transcription from RNA polymerase II promoter (GO:0006366)	intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	activating transcription factor binding (GO:0033613)|histone deacetylase binding (GO:0042826)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(4)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(1)	15	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					CAACAACAACAAAAAAAAACA	0.383																																																	0																																										SO:0001624	3_prime_UTR_variant	4209			BC054520	CCDS1143.1, CCDS60304.1	1q12-q23	2008-02-05	2007-04-24		ENSG00000116604	ENSG00000116604		"""Myocyte enhancer factors"""	6997	protein-coding gene	gene with protein product		600663				8269842	Standard	NM_005920		Approved		uc001fpb.4	Q14814	OTTHUMG00000033095	ENST00000348159.4:c.*1344T>-	1.37:g.156436093delA		Somatic		WXS	Illumina HiSeq	Phase_IV	D3DVC0|Q14815|Q5T9U5|Q5T9U6	RNA	DEL	-	NULL	ENST00000348159.4	37	NULL	CCDS1143.1	1																																																																																			MEF2D	-	-		0.383	MEF2D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MEF2D	HGNC	protein_coding	OTTHUMT00000080562.2	A	NM_005920		156436093	-1	no_errors	ENST00000464356	ensembl	human	known	70_37	rna	DEL	0.996	-
MEF2D	4209	genome.wustl.edu	37	1	156450503	156450503	+	Intron	DEL	G	G	-	rs184946041	byFrequency	TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr1:156450503delG	ENST00000348159.4	-	4	877				MEF2D_ENST00000368240.2_Intron|MEF2D_ENST00000353795.3_Intron|MEF2D_ENST00000360595.3_Intron|MEF2D_ENST00000464356.2_Frame_Shift_Del_p.Q109fs|MEF2D_ENST00000340875.5_Frame_Shift_Del_p.Q109fs	NM_005920.2	NP_005911.1	Q14814	MEF2D_HUMAN	myocyte enhancer factor 2D						adult heart development (GO:0007512)|apoptotic process (GO:0006915)|chondrocyte differentiation (GO:0002062)|endochondral ossification (GO:0001958)|muscle organ development (GO:0007517)|nervous system development (GO:0007399)|osteoblast differentiation (GO:0001649)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|skeletal muscle cell differentiation (GO:0035914)|transcription from RNA polymerase II promoter (GO:0006366)	intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	activating transcription factor binding (GO:0033613)|histone deacetylase binding (GO:0042826)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(4)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|urinary_tract(1)	15	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					TCTTCCGTCTGGGGGGTCAGG	0.557											OREG0013874	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0																																										SO:0001627	intron_variant	4209			BC054520	CCDS1143.1, CCDS60304.1	1q12-q23	2008-02-05	2007-04-24		ENSG00000116604	ENSG00000116604		"""Myocyte enhancer factors"""	6997	protein-coding gene	gene with protein product		600663				8269842	Standard	NM_005920		Approved		uc001fpb.4	Q14814	OTTHUMG00000033095	ENST00000348159.4:c.396+122C>-	1.37:g.156450503delG		Somatic	1778	WXS	Illumina HiSeq	Phase_IV	D3DVC0|Q14815|Q5T9U5|Q5T9U6	Frame_Shift_Del	DEL	pfam_HJURP_C,pfam_TF_MADSbox,superfamily_TF_MADSbox,smart_TF_MADSbox,pfscan_TF_MADSbox,prints_TF_MADSbox	p.Q109fs	ENST00000348159.4	37	c.325	CCDS1143.1	1																																																																																			MEF2D	-	pfam_HJURP_C		0.557	MEF2D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MEF2D	HGNC	protein_coding	OTTHUMT00000080562.2	G	NM_005920		156450503	-1	no_errors	ENST00000340875	ensembl	human	known	70_37	frame_shift_del	DEL	1.000	-
METAP1D	254042	genome.wustl.edu	37	2	172945101	172945101	+	Silent	SNP	G	G	A			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr2:172945101G>A	ENST00000315796.4	+	10	1362	c.975G>A	c.(973-975)gcG>gcA	p.A325A	METAP1D_ENST00000488581.1_3'UTR	NM_199227.1	NP_954697.1	Q6UB28	MAP12_HUMAN	methionyl aminopeptidase type 1D (mitochondrial)	325					N-terminal protein amino acid modification (GO:0031365)|peptidyl-methionine modification (GO:0018206)|protein initiator methionine removal (GO:0070084)	mitochondrion (GO:0005739)	aminopeptidase activity (GO:0004177)|metal ion binding (GO:0046872)|metalloaminopeptidase activity (GO:0070006)|metalloexopeptidase activity (GO:0008235)			NS(1)|endometrium(1)|large_intestine(2)|lung(3)|skin(1)	8						CGAGGGGCGCGCAGATCCTGA	0.597																																																	0													87.0	91.0	89.0					2																	172945101		2203	4300	6503	SO:0001819	synonymous_variant	254042			AY374142, BC029123	CCDS2246.1	2q31.1	2010-09-21			ENSG00000172878	ENSG00000172878			32583	protein-coding gene	gene with protein product	"""methionine aminopeptidase 1D"""	610267				14532271, 16568094	Standard	NM_199227		Approved	MAP1D, Metap1l	uc002uhk.3	Q6UB28	OTTHUMG00000132283	ENST00000315796.4:c.975G>A	2.37:g.172945101G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q1WNX3	Silent	SNP	pfam_Pept_M24_structural-domain,superfamily_Pept_M24_structural-domain,prints_Pept_M24_MAP,tigrfam_Pept_M24A_MAP1	p.A325	ENST00000315796.4	37	c.975	CCDS2246.1	2																																																																																			METAP1D	-	superfamily_Pept_M24_structural-domain,tigrfam_Pept_M24A_MAP1		0.597	METAP1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	METAP1D	HGNC	protein_coding	OTTHUMT00000255378.2	G	NM_199227		172945101	+1	no_errors	ENST00000315796	ensembl	human	known	70_37	silent	SNP	0.339	A
METTL17	64745	genome.wustl.edu	37	14	21464426	21464426	+	Missense_Mutation	SNP	C	C	T			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr14:21464426C>T	ENST00000339374.6	+	12	1288	c.1055C>T	c.(1054-1056)gCg>gTg	p.A352V	SLC39A2_ENST00000554422.1_5'Flank|RP11-84C10.4_ENST00000557335.1_RNA|METTL17_ENST00000556670.2_Missense_Mutation_p.A352V|METTL17_ENST00000382985.4_Missense_Mutation_p.A352V	NM_001029991.1|NM_022734.2	NP_001025162.1|NP_073571.1	Q9H7H0	MET17_HUMAN	methyltransferase like 17	352					translation (GO:0006412)	mitochondrion (GO:0005739)|ribosome (GO:0005840)	copper ion binding (GO:0005507)|methyltransferase activity (GO:0008168)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(1)|skin(2)	20						TTCTCACAGGCGTACCATCCC	0.483																																																	0													233.0	223.0	226.0					14																	21464426		2203	4300	6503	SO:0001583	missense	64745			AK024512	CCDS9562.1, CCDS41913.1	14q11.2	2011-03-03	2011-03-02	2011-03-02	ENSG00000165792	ENSG00000165792			19280	protein-coding gene	gene with protein product			"""methyltransferase 11 domain containing 1"""	METT11D1		11278769	Standard	XM_006720235		Approved	FLJ20859	uc001vyn.3	Q9H7H0	OTTHUMG00000029610	ENST00000339374.6:c.1055C>T	14.37:g.21464426C>T	ENSP00000343041:p.Ala352Val	Somatic		WXS	Illumina HiSeq	Phase_IV	Q9BSH1|Q9BZH2|Q9BZH3	Missense_Mutation	SNP	pfam_Ribosomal_Rsm22_bac-type,pfam_Methyltransf_11	p.A352V	ENST00000339374.6	37	c.1055	CCDS9562.1	14	.	.	.	.	.	.	.	.	.	.	C	9.869	1.198402	0.22037	.	.	ENSG00000165792	ENST00000339374;ENST00000382985	T;T	0.30182	1.54;1.54	5.17	1.12	0.20585	.	0.676072	0.14854	N	0.294477	T	0.17408	0.0418	L	0.29908	0.895	0.22435	N	0.999107	P;B;B	0.38280	0.625;0.386;0.335	B;B;B	0.29440	0.088;0.102;0.062	T	0.07271	-1.0781	10	0.41790	T	0.15	.	8.6367	0.33953	0.0:0.4216:0.4904:0.088	.	352;352;352	Q9H7H0-3;Q9H7H0;Q9H7H0-2	.;MET17_HUMAN;.	V	352	ENSP00000343041:A352V;ENSP00000372445:A352V	ENSP00000343041:A352V	A	+	2	0	METTL17	20534266	0.896000	0.30565	0.418000	0.26571	0.616000	0.37450	1.198000	0.32223	-0.071000	0.12886	-0.176000	0.13171	GCG	METTL17	-	pfam_Ribosomal_Rsm22_bac-type		0.483	METTL17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	METTL17	HGNC	protein_coding	OTTHUMT00000073804.4	C	NM_022734		21464426	+1	no_errors	ENST00000382985	ensembl	human	known	70_37	missense	SNP	0.281	T
METTL24	728464	genome.wustl.edu	37	6	110636575	110636575	+	Missense_Mutation	SNP	C	C	T			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr6:110636575C>T	ENST00000338882.4	-	3	526	c.527G>A	c.(526-528)cGc>cAc	p.R176H		NM_001123364.1	NP_001116836.1	Q5JXM2	MET24_HUMAN	methyltransferase like 24	176						extracellular region (GO:0005576)	methyltransferase activity (GO:0008168)										CTGCTTGTTGCGGATTTGATG	0.458																																																	0													171.0	151.0	157.0					6																	110636575		1568	3582	5150	SO:0001583	missense	728464				CCDS43489.1	6q21	2012-03-08	2012-02-21	2012-02-21	ENSG00000053328	ENSG00000053328			21566	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 186"""	C6orf186			Standard	NM_001123364		Approved	dJ71D21.2	uc010kdu.1	Q5JXM2	OTTHUMG00000015359	ENST00000338882.4:c.527G>A	6.37:g.110636575C>T	ENSP00000344071:p.Arg176His	Somatic		WXS	Illumina HiSeq	Phase_IV	Q6ZSU5	Missense_Mutation	SNP	NULL	p.R176H	ENST00000338882.4	37	c.527	CCDS43489.1	6	.	.	.	.	.	.	.	.	.	.	C	11.54	1.668425	0.29604	.	.	ENSG00000053328	ENST00000338882	T	0.44881	0.91	5.42	-1.08	0.09936	.	0.442766	0.23949	N	0.042967	T	0.14787	0.0357	L	0.35854	1.095	0.36832	D	0.88692	B	0.14012	0.009	B	0.12837	0.008	T	0.08659	-1.0711	10	0.51188	T	0.08	-3.9002	10.2843	0.43558	0.0:0.4182:0.0:0.5818	.	176	Q5JXM2	CF186_HUMAN	H	176	ENSP00000344071:R176H	ENSP00000344071:R176H	R	-	2	0	C6orf186	110743268	0.251000	0.23961	0.210000	0.23637	0.910000	0.53928	0.027000	0.13621	-0.171000	0.10797	-0.793000	0.03317	CGC	METTL24	-	NULL		0.458	METTL24-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	METTL24	HGNC	protein_coding	OTTHUMT00000041794.1	C	NM_001123364		110636575	-1	no_errors	ENST00000338882	ensembl	human	known	70_37	missense	SNP	0.344	T
MGAM	8972	genome.wustl.edu	37	7	141805659	141805659	+	Missense_Mutation	SNP	T	T	G			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr7:141805659T>G	ENST00000549489.2	+	48	5637	c.5542T>G	c.(5542-5544)Ttt>Gtt	p.F1848V	MGAM_ENST00000475668.2_Missense_Mutation_p.F2744V	NM_004668.2	NP_004659.2	O43451	MGA_HUMAN	maltase-glucoamylase (alpha-glucosidase)	1848					carbohydrate metabolic process (GO:0005975)|polysaccharide digestion (GO:0044245)|small molecule metabolic process (GO:0044281)|starch catabolic process (GO:0005983)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-1,4-glucosidase activity (GO:0004558)|amylase activity (GO:0016160)|carbohydrate binding (GO:0030246)|catalytic activity (GO:0003824)|glucan 1,4-alpha-glucosidase activity (GO:0004339)|maltose alpha-glucosidase activity (GO:0032450)			cervix(1)|endometrium(1)|large_intestine(4)|lung(3)|ovary(2)|skin(2)	13	Melanoma(164;0.0272)				Acarbose(DB00284)|Miglitol(DB00491)|Voglibose(DB04878)	CCTACATAATTTTACTTCATT	0.353																																																	0													131.0	122.0	125.0					7																	141805659		1840	4103	5943	SO:0001583	missense	8972			AF016833	CCDS47727.1	7q34	2012-10-03			ENSG00000257335	ENSG00000257335			7043	protein-coding gene	gene with protein product		154360				9446624	Standard	NM_004668		Approved	MGA	uc003vwy.3	O43451	OTTHUMG00000158395	ENST00000549489.2:c.5542T>G	7.37:g.141805659T>G	ENSP00000447378:p.Phe1848Val	Somatic		WXS	Illumina HiSeq	Phase_IV	Q0VAX6|Q75ME7|Q86UM5	Missense_Mutation	SNP	pfam_Glyco_hydro_31,pfam_P_trefoil,superfamily_Glycoside_hydrolase_SF,superfamily_Glyco_hydro-type_carb-bd,smart_P_trefoil	p.F1848V	ENST00000549489.2	37	c.5542	CCDS47727.1	7	.	.	.	.	.	.	.	.	.	.	T	12.89	2.073601	0.36566	.	.	ENSG00000257335	ENST00000549489;ENST00000475668	D	0.88431	-2.38	5.43	4.28	0.50868	.	.	.	.	.	T	0.82148	0.4974	L	0.44542	1.39	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.65717	-0.6100	9	0.19590	T	0.45	.	6.5466	0.22410	0.0:0.1077:0.0:0.8923	.	1848	O43451	MGA_HUMAN	V	1848;2745	ENSP00000447378:F1848V	ENSP00000373973:F1848V	F	+	1	0	MGAM	141452128	0.083000	0.21467	0.199000	0.23439	0.111000	0.19643	1.981000	0.40628	2.279000	0.76181	0.533000	0.62120	TTT	MGAM	-	NULL		0.353	MGAM-001	KNOWN	basic|CCDS	protein_coding	MGAM	HGNC	protein_coding	OTTHUMT00000351244.3	T			141805659	+1	no_errors	ENST00000549489	ensembl	human	known	70_37	missense	SNP	0.083	G
MGAT3	4248	genome.wustl.edu	37	22	39883698	39883698	+	Missense_Mutation	SNP	G	G	A			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr22:39883698G>A	ENST00000341184.6	+	2	561	c.346G>A	c.(346-348)Gtc>Atc	p.V116I		NM_001098270.1|NM_002409.4	NP_001091740.1|NP_002400.3	Q09327	MGAT3_HUMAN	mannosyl (beta-1,4-)-glycoprotein beta-1,4-N-acetylglucosaminyltransferase	116					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	beta-1,4-mannosylglycoprotein 4-beta-N-acetylglucosaminyltransferase activity (GO:0003830)			endometrium(4)|kidney(1)|large_intestine(5)|lung(12)|prostate(1)|skin(1)	24	Melanoma(58;0.04)					GGCCGGCGGCGTCTGCTTCAA	0.726																																																	0													7.0	10.0	9.0					22																	39883698		2150	4230	6380	SO:0001583	missense	4248			D13789	CCDS13994.2	22q13.1	2013-02-25			ENSG00000128268	ENSG00000128268	2.4.1.144	"""Mannosyl-glycoprotein beta N-acetylglucosaminyltransferases"""	7046	protein-coding gene	gene with protein product		604621				8370666	Standard	NM_002409		Approved	GNT-III	uc010gxy.3	Q09327	OTTHUMG00000030185	ENST00000341184.6:c.346G>A	22.37:g.39883698G>A	ENSP00000345270:p.Val116Ile	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NGD0|Q14CK5|Q6IC49|Q9UH32	Missense_Mutation	SNP	pfam_Glyco_trans_17	p.V116I	ENST00000341184.6	37	c.346	CCDS13994.2	22	.	.	.	.	.	.	.	.	.	.	G	9.382	1.073273	0.20147	.	.	ENSG00000128268	ENST00000341184;ENST00000429402	.	.	.	5.03	5.03	0.67393	.	0.076029	0.52532	D	0.000068	T	0.44746	0.1308	L	0.27053	0.805	0.35380	D	0.789878	B	0.19445	0.036	B	0.09377	0.004	T	0.53251	-0.8465	9	0.46703	T	0.11	.	13.6987	0.62595	0.077:0.0:0.923:0.0	.	116	Q09327	MGAT3_HUMAN	I	116	.	ENSP00000345270:V116I	V	+	1	0	MGAT3	38213644	1.000000	0.71417	0.997000	0.53966	0.057000	0.15508	2.080000	0.41586	2.338000	0.79540	0.467000	0.42956	GTC	MGAT3	-	NULL		0.726	MGAT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MGAT3	HGNC	protein_coding	OTTHUMT00000075039.2	G	NM_002409		39883698	+1	no_errors	ENST00000341184	ensembl	human	known	70_37	missense	SNP	0.996	A
MGRN1	23295	genome.wustl.edu	37	16	4738820	4738820	+	3'UTR	SNP	G	G	A			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr16:4738820G>A	ENST00000399577.5	+	0	4272				MGRN1_ENST00000262370.7_Missense_Mutation_p.A548T|MGRN1_ENST00000586183.1_3'UTR|MGRN1_ENST00000588994.1_Missense_Mutation_p.A526T|MGRN1_ENST00000415496.1_3'UTR	NM_001142290.2	NP_001135762.1	O60291	MGRN1_HUMAN	mahogunin ring finger 1, E3 ubiquitin protein ligase						endosome to lysosome transport (GO:0008333)|negative regulation of cAMP-mediated signaling (GO:0043951)|negative regulation of G-protein coupled receptor protein signaling pathway (GO:0045744)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(3)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	18						CATGGAGACGGCCCACGGCCT	0.716																																																	0													6.0	11.0	9.0					16																	4738820		1981	4054	6035	SO:0001624	3_prime_UTR_variant	23295			AB011116	CCDS42115.1, CCDS45401.1, CCDS45402.1, CCDS45401.2, CCDS59256.1	16p13	2012-02-23	2012-02-23					"""RING-type (C3HC4) zinc fingers"""	20254	protein-coding gene	gene with protein product		607559	"""mahogunin, ring finger 1"""			9628581	Standard	NM_015246		Approved	KIAA0544, RNF156	uc002cxa.3	O60291		ENST00000399577.5:c.*2520G>A	16.37:g.4738820G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	A4URL3|A4URL4|Q86W76	Missense_Mutation	SNP	smart_Znf_RING,pfscan_Znf_RING	p.A548T	ENST00000399577.5	37	c.1642	CCDS45402.1	16	.	.	.	.	.	.	.	.	.	.	G	9.465	1.094227	0.20471	.	.	ENSG00000102858	ENST00000262370	T	0.30182	1.54	4.67	2.65	0.31530	.	.	.	.	.	T	0.14184	0.0343	N	0.08118	0	0.26573	N	0.973518	B;B	0.18310	0.027;0.027	B;B	0.23574	0.047;0.031	T	0.32955	-0.9887	9	0.15066	T	0.55	-0.7222	6.7194	0.23323	0.0:0.6746:0.2232:0.1022	.	526;548	O60291-3;O60291-2	.;.	T	548	ENSP00000262370:A548T	ENSP00000262370:A548T	A	+	1	0	MGRN1	4678821	0.014000	0.17966	0.469000	0.27204	0.150000	0.21749	0.699000	0.25586	0.918000	0.36919	-0.211000	0.12701	GCC	MGRN1	-	NULL		0.716	MGRN1-004	KNOWN	basic|CCDS	protein_coding	MGRN1	HGNC	protein_coding	OTTHUMT00000432060.2	G			4738820	+1	no_errors	ENST00000262370	ensembl	human	known	70_37	missense	SNP	0.454	A
MIA3	375056	genome.wustl.edu	37	1	222802912	222802912	+	Missense_Mutation	SNP	A	A	T			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr1:222802912A>T	ENST00000344922.5	+	4	2375	c.2350A>T	c.(2350-2352)Atg>Ttg	p.M784L	MIA3_ENST00000470521.1_3'UTR|MIA3_ENST00000344441.6_Missense_Mutation_p.M784L|MIA3_ENST00000344507.1_Intron	NM_198551.2	NP_940953.2	Q5JRA6	MIA3_HUMAN	melanoma inhibitory activity family, member 3	784					chondrocyte development (GO:0002063)|collagen fibril organization (GO:0030199)|exocytosis (GO:0006887)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell migration (GO:0030336)|positive regulation of bone mineralization (GO:0030501)|positive regulation of leukocyte migration (GO:0002687)|protein transport (GO:0015031)|wound healing (GO:0042060)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)				breast(5)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(15)|lung(37)|ovary(5)|pancreas(2)|prostate(2)|skin(2)|stomach(4)|urinary_tract(1)	80				GBM - Glioblastoma multiforme(131;0.0199)		AGAAACTAGTATGATTTTGGA	0.458																																																	0													72.0	65.0	67.0					1																	222802912		1862	4110	5972	SO:0001583	missense	375056				CCDS41470.1, CCDS73035.1	1p36.33	2012-12-13		2006-07-25	ENSG00000154305	ENSG00000154305			24008	protein-coding gene	gene with protein product	"""C219 reactive peptide"", ""transport and golgi organization"""	613455				15183315	Standard	XM_005273121		Approved	UNQ6077, FLJ39207, KIAA0268, TANGO	uc001hnl.3	Q5JRA6	OTTHUMG00000037543	ENST00000344922.5:c.2350A>T	1.37:g.222802912A>T	ENSP00000340900:p.Met784Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K2S0|A8MT05|A8MT13|B7Z430|Q14083|Q3S4X3|Q5JRA5|Q5JRB0|Q5JRB1|Q5JRB2|Q6UVY8|Q86Y60|Q8N8M5|Q92580	Missense_Mutation	SNP	pfam_SH3_2,superfamily_SH3_domain	p.M784L	ENST00000344922.5	37	c.2350	CCDS41470.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	6.745|6.745	0.506235|0.506235	0.12883|0.12883	.|.	.|.	ENSG00000154305|ENSG00000154305	ENST00000344922;ENST00000344441;ENST00000320831|ENST00000354906	T;T|.	0.04502|.	3.61;3.61|.	4.36|4.36	-2.27|-2.27	0.06846|0.06846	.|.	.|.	.|.	.|.	.|.	T|T	0.21674|0.21674	0.0522|0.0522	L|L	0.29908|0.29908	0.895|0.895	0.09310|0.09310	N|N	1|1	B;B|.	0.14438|.	0.003;0.01|.	B;B|.	0.06405|.	0.002;0.002|.	T|T	0.27468|0.27468	-1.0073|-1.0073	9|5	0.23302|.	T|.	0.38|.	.|.	3.0008|3.0008	0.06012|0.06012	0.3274:0.1228:0.4152:0.1346|0.3274:0.1228:0.4152:0.1346	.|.	784;784|.	Q5JRA6-2;Q5JRA6|.	.;MIA3_HUMAN|.	L|F	784|366	ENSP00000340900:M784L;ENSP00000340587:M784L|.	ENSP00000325973:M784L|.	M|Y	+|+	1|2	0|0	MIA3|MIA3	220869535|220869535	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.001000|0.001000	0.01503|0.01503	-0.318000|-0.318000	0.08050|0.08050	-0.383000|-0.383000	0.07858|0.07858	-0.464000|-0.464000	0.05259|0.05259	ATG|TAT	MIA3	-	NULL		0.458	MIA3-001	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	MIA3	HGNC	protein_coding	OTTHUMT00000091489.4	A	NM_198551		222802912	+1	no_errors	ENST00000344441	ensembl	human	known	70_37	missense	SNP	0.000	T
MINK1	50488	genome.wustl.edu	37	17	4794897	4794897	+	Silent	SNP	G	G	A	rs374719714		TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr17:4794897G>A	ENST00000355280.6	+	16	2083	c.1887G>A	c.(1885-1887)acG>acA	p.T629T	MINK1_ENST00000453408.3_Silent_p.T609T|MINK1_ENST00000347992.7_Silent_p.T629T	NM_001024937.3|NM_015716.4|NM_153827.4	NP_001020108.1|NP_056531.1|NP_722549.2			misshapen-like kinase 1											central_nervous_system(2)|large_intestine(1)|lung(1)|skin(1)|stomach(1)	6						CCACTGCCACGCCCAGTGCCC	0.677																																																	0								G	,,,	0,4048		0,0,2024	25.0	32.0	30.0		1827,1887,1887,1887	-7.0	0.9	17		30	1,8325		0,1,4162	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	MINK1	NM_001024937.3,NM_015716.4,NM_153827.4,NM_170663.4	,,,	0,1,6186	AA,AG,GG		0.012,0.0,0.0081	,,,	609/1313,629/1296,629/1333,629/1304	4794897	1,12373	2024	4163	6187	SO:0001819	synonymous_variant	50488			AY775058	CCDS45588.1, CCDS45589.1, CCDS45590.1	17p13.2	2011-04-14	2010-06-24		ENSG00000141503	ENSG00000141503			17565	protein-coding gene	gene with protein product	"""misshapen/NIK-related kinase"""	609426	"""misshapen-like kinase 1 (zebrafish)"""			10708748, 12087176	Standard	NM_015716		Approved	B55, MINK, ZC3, MAP4K6, YSK2	uc010vsl.2	Q8N4C8		ENST00000355280.6:c.1887G>A	17.37:g.4794897G>A		Somatic		WXS	Illumina HiSeq	Phase_IV		Silent	SNP	pfam_Prot_kinase_cat_dom,pfam_Citron,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Citron,pfscan_Prot_kinase_cat_dom	p.T629	ENST00000355280.6	37	c.1887	CCDS45588.1	17																																																																																			MINK1	-	NULL		0.677	MINK1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MINK1	HGNC	protein_coding	OTTHUMT00000439801.1	G	NM_015716		4794897	+1	no_errors	ENST00000355280	ensembl	human	known	70_37	silent	SNP	0.358	A
SYT1	6857	genome.wustl.edu	37	12	79813096	79813096	+	Intron	SNP	T	T	G			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr12:79813096T>G	ENST00000261205.4	+	10	1585				MIR1252_ENST00000408861.1_RNA|SYT1_ENST00000393240.3_Intron|SYT1_ENST00000457153.2_Intron|SYT1_ENST00000552744.1_Intron|RP1-78O14.1_ENST00000550268.1_lincRNA	NM_005639.2	NP_005630.1	P21579	SYT1_HUMAN	synaptotagmin I						calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|detection of calcium ion (GO:0005513)|glutamate secretion (GO:0014047)|neurotransmitter secretion (GO:0007269)|positive regulation of calcium ion-dependent exocytosis (GO:0045956)|positive regulation of synaptic transmission (GO:0050806)|positive regulation of vesicle fusion (GO:0031340)|protein homooligomerization (GO:0051260)|regulation of exocytosis (GO:0017157)|regulation of regulated secretory pathway (GO:1903305)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission (GO:0007268)|synaptic vesicle exocytosis (GO:0016079)|vesicle docking (GO:0048278)	cell junction (GO:0030054)|clathrin-sculpted acetylcholine transport vesicle membrane (GO:0060201)|clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane (GO:0061202)|clathrin-sculpted glutamate transport vesicle membrane (GO:0060203)|clathrin-sculpted monoamine transport vesicle membrane (GO:0070083)|dense core granule (GO:0031045)|endocytic vesicle membrane (GO:0030666)|excitatory synapse (GO:0060076)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)|synaptic vesicle (GO:0008021)|synaptic vesicle membrane (GO:0030672)	1-phosphatidylinositol binding (GO:0005545)|calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|low-density lipoprotein particle receptor binding (GO:0050750)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phosphatidylserine binding (GO:0001786)|SNARE binding (GO:0000149)|syntaxin-1 binding (GO:0017075)|transporter activity (GO:0005215)			NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|pancreas(2)|skin(6)	25						TAATTTCCTTTTTTCTAAATC	0.348																																																	0													102.0	94.0	97.0					12																	79813096		1559	3579	5138	SO:0001627	intron_variant	100302136				CCDS9017.1	12q21.2	2013-09-20			ENSG00000067715	ENSG00000067715		"""Synaptotagmins"""	11509	protein-coding gene	gene with protein product		185605		SYT, SVP65		1840599	Standard	NM_001135805		Approved	P65	uc001syv.3	P21579	OTTHUMG00000134326	ENST00000261205.4:c.929-24757T>G	12.37:g.79813096T>G		Somatic		WXS	Illumina HiSeq	Phase_IV	Q6AI31	RNA	SNP	-	NULL	ENST00000261205.4	37	NULL	CCDS9017.1	12																																																																																			MIR1252	-	-		0.348	SYT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MIR1252	HGNC	protein_coding	OTTHUMT00000259415.1	T	NM_005639		79813096	+1	no_errors	ENST00000408861	ensembl	human	known	70_37	rna	SNP	0.017	G
MIR520F	574464	genome.wustl.edu	37	19	54185499	54185499	+	RNA	SNP	A	A	G			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr19:54185499A>G	ENST00000384824.1	+	0	87				MIR519E_ENST00000385075.1_RNA|MIR515-2_ENST00000384883.1_RNA	NR_030186.1				microRNA 520f																		ACCGTTTGGGAAAAGCAATGT	0.438																																																	0													59.0	54.0	56.0					19																	54185499		1568	3582	5150			574464					19q13.42	2011-09-12		2008-12-18	ENSG00000207555	ENSG00000207555		"""ncRNAs / Micro RNAs"""	32096	non-coding RNA	RNA, micro				MIRN520F			Standard	NR_030186		Approved	hsa-mir-520f	uc021uzp.1				19.37:g.54185499A>G		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000384824.1	37	NULL		19																																																																																			MIR520F	-	-		0.438	MIR520F-201	KNOWN	basic	miRNA	MIR520F	HGNC	miRNA		A	NR_030186		54185499	+1	no_errors	ENST00000384824	ensembl	human	known	70_37	rna	SNP	0.228	G
CNTNAP2	26047	genome.wustl.edu	37	7	147075210	147075210	+	Intron	SNP	A	A	C			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr7:147075210A>C	ENST00000361727.3	+	10	2014				MIR548F4_ENST00000408515.1_RNA	NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2						adult behavior (GO:0030534)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cellular protein localization (GO:0034613)|cerebral cortex development (GO:0021987)|clustering of voltage-gated potassium channels (GO:0045163)|learning (GO:0007612)|limbic system development (GO:0021761)|neuron projection development (GO:0031175)|neuron recognition (GO:0008038)|protein localization to juxtaparanode region of axon (GO:0071205)|social behavior (GO:0035176)|striatum development (GO:0021756)|superior temporal gyrus development (GO:0071109)|thalamus development (GO:0021794)|transmission of nerve impulse (GO:0019226)|vocalization behavior (GO:0071625)	axolemma (GO:0030673)|axon (GO:0030424)|cell surface (GO:0009986)|dendrite (GO:0030425)|early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|juxtaparanode region of axon (GO:0044224)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|voltage-gated potassium channel complex (GO:0008076)	enzyme binding (GO:0019899)			NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			aTACGTTAGAACTCATTTTTA	0.244										HNSCC(39;0.1)																																							0													31.0	24.0	26.0					7																	147075210		1188	2717	3905	SO:0001627	intron_variant	100313895			AF193613	CCDS5889.1	7q35	2008-02-04			ENSG00000174469	ENSG00000174469			13830	protein-coding gene	gene with protein product		604569				10624965, 10048485	Standard	NM_014141		Approved	Caspr2, KIAA0868, NRXN4	uc003weu.2	Q9UHC6	OTTHUMG00000152743	ENST00000361727.3:c.1499-17491A>C	7.37:g.147075210A>C		Somatic		WXS	Illumina HiSeq	Phase_IV	D3DWG2|Q14DG2|Q52LV1|Q5H9Q7|Q9UQ12	RNA	SNP	-	NULL	ENST00000361727.3	37	NULL	CCDS5889.1	7																																																																																			MIR548F4	-	-		0.244	CNTNAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MIR548F4	HGNC	protein_coding	OTTHUMT00000327668.1	A			147075210	-1	no_errors	ENST00000408515	ensembl	human	known	70_37	rna	SNP	0.001	C
MIR7-3HG	284424	genome.wustl.edu	37	19	4770688	4770688	+	lincRNA	SNP	G	G	C			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr19:4770688G>C	ENST00000586721.1	+	0	509				MIR7-3_ENST00000384898.1_RNA			Q8N6C7	PGSF1_HUMAN	MIR7-3 host gene (non-protein coding)																		AAGAAGATTAGAGTGGCTGTG	0.532																																																	0													318.0	306.0	309.0					19																	4770688		1568	3582	5150			407045			AB058892		19p13.3	2014-03-17	2011-09-01	2011-09-01	ENSG00000176840	ENSG00000176840		"""Long non-coding RNAs"""	30049	non-coding RNA	RNA, long non-coding	"""pituitary gland specific factor 1a"", ""pituitary gland specific factor 1b"""		"""chromosome 19 open reading frame 30"", ""non-protein coding RNA 306"", ""long intergenic non-protein coding RNA 306"""	C19orf30, NCRNA00306, LINC00306		11854097	Standard	NR_027148		Approved	PGSF1, PGSF1a, PGSF1b, Huh7, uc002mbe.2	uc010xii.2	Q8N6C7	OTTHUMG00000150589		19.37:g.4770688G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	D6W630|Q17RJ9|Q8N6C6	RNA	SNP	-	NULL	ENST00000586721.1	37	NULL		19																																																																																			MIR7-3	-	-		0.532	MIR7-3HG-002	KNOWN	basic	lincRNA	MIR7-3	HGNC	lincRNA	OTTHUMT00000459345.1	G	NR_027148		4770688	+1	no_errors	ENST00000384898	ensembl	human	known	70_37	rna	SNP	0.010	C
GIPR	2696	genome.wustl.edu	37	19	46178253	46178253	+	Intron	SNP	G	G	A			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr19:46178253G>A	ENST00000590918.1	+	7	732				GIPR_ENST00000263281.3_Intron|MIR642A_ENST00000385039.1_RNA|GIPR_ENST00000304207.8_Intron	NM_000164.2	NP_000155.1	P48546	GIPR_HUMAN	gastric inhibitory polypeptide receptor						activation of adenylate cyclase activity (GO:0007190)|cell surface receptor signaling pathway (GO:0007166)|desensitization of G-protein coupled receptor protein signaling pathway (GO:0002029)|endocrine pancreas development (GO:0031018)|generation of precursor metabolites and energy (GO:0006091)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of insulin secretion (GO:0032024)|response to axon injury (GO:0048678)|response to calcium ion (GO:0051592)|response to fatty acid (GO:0070542)|response to glucose (GO:0009749)|response to nutrient (GO:0007584)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	gastric inhibitory peptide receptor activity (GO:0016519)|peptide hormone binding (GO:0017046)|transmembrane signaling receptor activity (GO:0004888)			endometrium(1)|kidney(2)|lung(5)|prostate(1)|skin(2)|urinary_tract(1)	12		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0056)|GBM - Glioblastoma multiforme(486;0.0832)|Epithelial(262;0.199)		TTTGGAGAGGGAACCTCCCAA	0.493																																																	0													46.0	46.0	46.0					19																	46178253		1567	3582	5149	SO:0001627	intron_variant	693227				CCDS12671.1	19q13.2-q13.3	2012-08-10				ENSG00000010310		"""GPCR / Class B : Glucagon receptors"""	4271	protein-coding gene	gene with protein product		137241				7490109	Standard	NM_000164		Approved		uc002pcu.1	P48546		ENST00000590918.1:c.633+169G>A	19.37:g.46178253G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	B7WP14|B7ZKQ0|Q14401|Q16400|Q52M04|Q9UPI1	RNA	SNP	-	NULL	ENST00000590918.1	37	NULL	CCDS12671.1	19																																																																																			MIR642A	-	-		0.493	GIPR-001	KNOWN	basic|CCDS	protein_coding	MIR642A	HGNC	protein_coding	OTTHUMT00000459640.1	G			46178253	+1	no_errors	ENST00000385039	ensembl	human	known	70_37	rna	SNP	0.251	A
MLH1	4292	genome.wustl.edu	37	3	37055922	37055922	+	Splice_Site	SNP	G	G	A	rs267607784		TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr3:37055922G>A	ENST00000231790.2	+	9	893		c.e9-1		MLH1_ENST00000539477.1_Splice_Site|MLH1_ENST00000435176.1_Splice_Site|MLH1_ENST00000458205.2_Splice_Site|MLH1_ENST00000455445.2_Splice_Site|MLH1_ENST00000536378.1_Splice_Site	NM_000249.3|NM_001258273.1	NP_000240.1|NP_001245202.1	P40692	MLH1_HUMAN	mutL homolog 1						ATP catabolic process (GO:0006200)|double-strand break repair via nonhomologous end joining (GO:0006303)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|isotype switching (GO:0045190)|male meiosis chromosome segregation (GO:0007060)|meiotic metaphase I plate congression (GO:0043060)|mismatch repair (GO:0006298)|negative regulation of mitotic recombination (GO:0045950)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|oogenesis (GO:0048477)|resolution of meiotic recombination intermediates (GO:0000712)|somatic hypermutation of immunoglobulin genes (GO:0016446)|spermatogenesis (GO:0007283)|spindle midzone assembly involved in meiosis (GO:0051257)|synapsis (GO:0007129)	chiasma (GO:0005712)|male germ cell nucleus (GO:0001673)|membrane (GO:0016020)|MutLalpha complex (GO:0032389)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|guanine/thymine mispair binding (GO:0032137)	p.0?(1)		NS(1)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(12)|kidney(2)|large_intestine(54)|lung(13)|oesophagus(7)|ovary(6)|pancreas(5)|prostate(5)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	127						TTTTCTAATAGAGAACTGATA	0.323		1	"""D, Mis, N, F, S"""		"""colorectal, endometrial, ovarian, CNS"""	"""colorectal, endometrial, ovarian, CNS"""		Mismatch excision repair (MMR)	Turcot syndrome;Muir-Torre syndrome;Lynch syndrome;Constitutional Mismatch Repair Deficiency Syndrome																														yes	Rec	yes	"""Hereditary non-polyposis colorectal cancer, Turcot syndrome"""	3	3p21.3	4292	E.coli MutL homolog gene		"""E, O"""	1	Whole gene deletion(1)	ovary(1)	GRCh37	CS056763|CS994671	MLH1	S							45.0	45.0	45.0					3																	37055922		2203	4300	6503	SO:0001630	splice_region_variant	4292	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome; ;Hereditary Non-Polyposis Colorectal Cancer, HNPCC, Lynch syndromes 1 and 2 (= Cancer Family Syndrome), Hereditary Mismatch Repair Deficiency syndrome, HMRDS;Mismatch Repair Cancer syndrome, MMRCS, Childhood Cancer Syndrome, CCS, Biallelic Mismatch Repair Gene Mutations Associated Early Onset Cancer, Lynch syndrome type III	U07418	CCDS2663.1, CCDS54562.1, CCDS54563.1	3p22.3	2014-09-17	2013-09-12		ENSG00000076242	ENSG00000076242			7127	protein-coding gene	gene with protein product		120436	"""mutL (E. coli) homolog 1 (colon cancer, nonpolyposis type 2)"", ""mutL homolog 1, colon cancer, nonpolyposis type 2 (E. coli)"""	COCA2		7903889	Standard	NM_000249		Approved	HNPCC, FCC2, HNPCC2	uc003cgl.3	P40692	OTTHUMG00000130797	ENST00000231790.2:c.678-1G>A	3.37:g.37055922G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	B4DI13|B4DQ11|E9PCU2	Splice_Site	SNP	-	e9-1	ENST00000231790.2	37	c.678-1	CCDS2663.1	3	.	.	.	.	.	.	.	.	.	.	G	20.7	4.026267	0.75390	.	.	ENSG00000076242	ENST00000231790;ENST00000436867;ENST00000537937;ENST00000383761;ENST00000456676;ENST00000435176	.	.	.	5.7	5.7	0.88788	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.8412	0.96690	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	MLH1	37030926	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.340000	0.97038	2.703000	0.92315	0.655000	0.94253	.	MLH1	-	-		0.323	MLH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MLH1	HGNC	protein_coding	OTTHUMT00000253337.2	G	NM_000249	Intron	37055922	+1	no_errors	ENST00000231790	ensembl	human	known	70_37	splice_site	SNP	1.000	A
KMT2A	4297	genome.wustl.edu	37	11	118375513	118375513	+	Missense_Mutation	SNP	C	C	G			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr11:118375513C>G	ENST00000389506.5	+	27	8897	c.8897C>G	c.(8896-8898)tCt>tGt	p.S2966C	KMT2A_ENST00000534358.1_Missense_Mutation_p.S2969C|KMT2A_ENST00000354520.4_Missense_Mutation_p.S2928C			Q03164	KMT2A_HUMAN	lysine (K)-specific methyltransferase 2A	2966					anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|DNA methylation (GO:0006306)|embryonic hemopoiesis (GO:0035162)|histone H3-K4 methylation (GO:0051568)|histone H3-K4 trimethylation (GO:0080182)|histone H4-K16 acetylation (GO:0043984)|negative regulation of cell proliferation (GO:0008285)|positive regulation of cellular response to drug (GO:2001040)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transporter activity (GO:0032411)|protein complex assembly (GO:0006461)|regulation of histone H3-K4 methylation (GO:0051569)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|histone methyltransferase complex (GO:0035097)|MLL1 complex (GO:0071339)|nucleus (GO:0005634)	AT DNA binding (GO:0003680)|chromatin binding (GO:0003682)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|identical protein binding (GO:0042802)|lysine-acetylated histone binding (GO:0070577)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|unmethylated CpG binding (GO:0045322)|zinc ion binding (GO:0008270)										ACAGAAAAATCTGTAGCCTCC	0.512																																																	0													58.0	59.0	59.0					11																	118375513		2200	4295	6495	SO:0001583	missense	4297			L04284	CCDS31686.1, CCDS55791.1	11q23	2014-09-17	2013-05-09	2013-05-09	ENSG00000118058	ENSG00000118058		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7132	protein-coding gene	gene with protein product		159555	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog)"", ""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila)"""	MLL		1720549	Standard	NM_001197104		Approved	TRX1, HRX, ALL-1, HTRX1, CXXC7, MLL1A		Q03164	OTTHUMG00000166337	ENST00000389506.5:c.8897C>G	11.37:g.118375513C>G	ENSP00000374157:p.Ser2966Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	E9PQG7|Q13743|Q13744|Q14845|Q16364|Q59FF2|Q6UBD1|Q9HBJ3|Q9UD94|Q9UMA3	Missense_Mutation	SNP	pfam_SET_dom,pfam_FYrich_C,pfam_Znf_PHD-finger,pfam_FYrich_N,pfam_Znf_CXXC,superfamily_Znf_FYVE_PHD,superfamily_Bromodomain,smart_Znf_PHD,smart_Bromodomain,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pirsf_MeTrfase_trithorax,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger,pfscan_Znf_CXXC,pfscan_Bromodomain	p.S2966C	ENST00000389506.5	37	c.8897	CCDS31686.1	11	.	.	.	.	.	.	.	.	.	.	C	11.41	1.631785	0.29068	.	.	ENSG00000118058	ENST00000534358;ENST00000389506;ENST00000354520;ENST00000359313	D;D;D	0.83075	-1.68;-1.68;-1.65	6.05	5.13	0.70059	.	0.399758	0.29638	N	0.011583	T	0.79064	0.4383	L	0.40543	1.245	0.44221	D	0.997055	B;B	0.09022	0.002;0.002	B;B	0.06405	0.002;0.002	T	0.74699	-0.3577	10	0.72032	D	0.01	.	17.2995	0.87178	0.0:0.8747:0.1253:0.0	.	2969;2966	E9PQG7;Q03164	.;MLL1_HUMAN	C	2969;2966;2928;1876	ENSP00000436786:S2969C;ENSP00000374157:S2966C;ENSP00000346516:S2928C	ENSP00000346516:S2928C	S	+	2	0	MLL	117880723	0.997000	0.39634	0.327000	0.25402	0.966000	0.64601	3.330000	0.52068	1.533000	0.49186	0.655000	0.94253	TCT	MLL	-	pirsf_MeTrfase_trithorax		0.512	KMT2A-015	KNOWN	basic|appris_candidate|CCDS	protein_coding	MLL	HGNC	protein_coding	OTTHUMT00000399085.2	C	NM_005933		118375513	+1	no_errors	ENST00000389506	ensembl	human	known	70_37	missense	SNP	0.996	G
KMT2C	58508	genome.wustl.edu	37	7	152009013	152009013	+	Silent	SNP	C	C	T			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr7:152009013C>T	ENST00000262189.6	-	5	827	c.609G>A	c.(607-609)caG>caA	p.Q203Q	KMT2C_ENST00000355193.2_Silent_p.Q203Q	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	203					histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)										ATACTATATTCTGCTGAGGAG	0.373																																																	0													105.0	101.0	103.0					7																	152009013		2203	4300	6503	SO:0001819	synonymous_variant	58508			AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	13726	protein-coding gene	gene with protein product		606833	"""myeloid/lymphoid or mixed-lineage leukemia 3"""	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.609G>A	7.37:g.152009013C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Silent	SNP	pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_Znf_PHD,smart_Znf_RING,smart_HMG_superfamily,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_DHHC_palmitoyltrfase,pfscan_Znf_PHD-finger,pfscan_Znf_RING	p.Q203	ENST00000262189.6	37	c.609	CCDS5931.1	7																																																																																			MLL3	-	NULL		0.373	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MLL3	HGNC	protein_coding	OTTHUMT00000318887.3	C			152009013	-1	no_errors	ENST00000355193	ensembl	human	known	70_37	silent	SNP	0.981	T
MME	4311	genome.wustl.edu	37	3	154859901	154859901	+	Missense_Mutation	SNP	C	C	A			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr3:154859901C>A	ENST00000460393.1	+	11	1199	c.1079C>A	c.(1078-1080)aCc>aAc	p.T360N	MME_ENST00000492661.1_Missense_Mutation_p.T360N|MME_ENST00000493237.1_Missense_Mutation_p.T360N|MME_ENST00000360490.2_Missense_Mutation_p.T360N|MME_ENST00000462745.1_Missense_Mutation_p.T360N	NM_000902.3|NM_007287.2	NP_000893.2|NP_009218.2	P08473	NEP_HUMAN	membrane metallo-endopeptidase	360					angiotensin maturation (GO:0002003)|beta-amyloid metabolic process (GO:0050435)|cellular protein metabolic process (GO:0044267)|cellular response to cytokine stimulus (GO:0071345)|cellular response to UV-A (GO:0071492)|cellular response to UV-B (GO:0071493)|creatinine metabolic process (GO:0046449)|kidney development (GO:0001822)|peptide metabolic process (GO:0006518)|proteolysis (GO:0006508)|replicative senescence (GO:0090399)|sensory perception of pain (GO:0019233)	axon (GO:0030424)|brush border (GO:0005903)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|neuron projection terminus (GO:0044306)|plasma membrane (GO:0005886)|synapse (GO:0045202)|synaptic vesicle (GO:0008021)	endopeptidase activity (GO:0004175)|metalloendopeptidase activity (GO:0004222)|peptide binding (GO:0042277)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(31)|ovary(3)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	64		all_neural(597;0.00391)|Myeloproliferative disorder(1037;0.0122)	LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.135)		Candoxatril(DB00616)|Liraglutide(DB06655)	CCCATTCTTACCAAATATTCT	0.373																																																	0													170.0	174.0	173.0					3																	154859901		2203	4300	6503	SO:0001583	missense	4311				CCDS3172.1	3q25.2	2012-01-31	2007-02-21		ENSG00000196549	ENSG00000196549	3.4.24.11	"""CD molecules"""	7154	protein-coding gene	gene with protein product	"""neutral endopeptidase"", ""enkephalinase"", ""neprilysin"""	120520					Standard	NM_007287		Approved	CALLA, CD10, NEP	uc003fad.1	P08473	OTTHUMG00000158455	ENST00000460393.1:c.1079C>A	3.37:g.154859901C>A	ENSP00000418525:p.Thr360Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K6U6|D3DNJ9|Q3MIX4	Missense_Mutation	SNP	pfam_Peptidase_M13_N,pfam_Peptidase_M13_C,prints_Peptidase_M13_C	p.T360N	ENST00000460393.1	37	c.1079	CCDS3172.1	3	.	.	.	.	.	.	.	.	.	.	C	1.818	-0.472890	0.04445	.	.	ENSG00000196549	ENST00000492661;ENST00000460393;ENST00000462745;ENST00000493237;ENST00000360490	T;T;T;T;T	0.81415	-1.49;-1.49;-1.49;-1.49;-1.49	6.02	4.23	0.50019	Peptidase M13 (1);	0.382752	0.32015	N	0.006710	T	0.50939	0.1645	N	0.03253	-0.375	0.26993	N	0.965106	B	0.02656	0.0	B	0.04013	0.001	T	0.45512	-0.9256	10	0.02654	T	1	-6.5169	5.475	0.16690	0.2103:0.5849:0.0:0.2049	.	360	P08473	NEP_HUMAN	N	360	ENSP00000420389:T360N;ENSP00000418525:T360N;ENSP00000419653:T360N;ENSP00000417079:T360N;ENSP00000353679:T360N	ENSP00000353679:T360N	T	+	2	0	MME	156342595	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	1.152000	0.31663	1.562000	0.49601	0.591000	0.81541	ACC	MME	-	pfam_Peptidase_M13_N		0.373	MME-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MME	HGNC	protein_coding	OTTHUMT00000351076.1	C	NM_000902		154859901	+1	no_errors	ENST00000360490	ensembl	human	known	70_37	missense	SNP	1.000	A
MMGT1	93380	genome.wustl.edu	37	X	135056076	135056076	+	5'UTR	SNP	C	C	T			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chrX:135056076C>T	ENST00000305963.2	-	0	146				MMGT1_ENST00000433339.2_Missense_Mutation_p.E11K	NM_173470.1	NP_775741.1	Q8N4V1	MMGT1_HUMAN	membrane magnesium transporter 1						magnesium ion transport (GO:0015693)	early endosome (GO:0005769)|ER membrane protein complex (GO:0072546)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	magnesium ion transmembrane transporter activity (GO:0015095)			cervix(1)|endometrium(1)|kidney(1)	3						ATGGAGGCCTCTCTAGGAGGG	0.602																																																	0																																										SO:0001623	5_prime_UTR_variant	93380			AL157477	CCDS14653.1	Xq26.3	2012-05-23	2008-11-21	2008-11-21	ENSG00000169446	ENSG00000169446			28100	protein-coding gene	gene with protein product	"""ER membrane protein complex subunit 5"""		"""transmembrane protein 32"""	TMEM32		18057121, 22119785	Standard	NM_173470		Approved	EMC5	uc004ezi.1	Q8N4V1	OTTHUMG00000022499	ENST00000305963.2:c.-242G>A	X.37:g.135056076C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B2R625|B4DIY3|D3DWG7|Q5JPP7	Missense_Mutation	SNP	pfam_Magnesium_transport	p.E11K	ENST00000305963.2	37	c.31	CCDS14653.1	X	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	c|c	15.93|15.93	2.978827|2.978827	0.53720|0.53720	.|.	.|.	ENSG00000169446|ENSG00000203945	ENST00000433339|ENST00000370707	.|.	.|.	.|.	4.59|4.59	0.757|0.757	0.18427|0.18427	.|.	.|.	.|.	.|.	.|.	T|T	0.37073|0.37073	0.0990|0.0990	.|.	.|.	.|.	0.09310|0.09310	N|N	1|1	B|.	0.02656|.	0.0|.	B|.	0.04013|.	0.001|.	T|T	0.37820|0.37820	-0.9689|-0.9689	7|5	0.87932|0.87932	D|D	0|0	.|.	3.5923|3.5923	0.07993|0.07993	0.0:0.4377:0.212:0.3503|0.0:0.4377:0.212:0.3503	.|.	11|.	Q8N4V1-2|.	.|.	K|F	11|4	.|.	ENSP00000411359:E11K|ENSP00000359741:S4F	E|S	-|+	1|2	0|0	MMGT1|RP11-274K13.2	134883742|134883742	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.017000|0.017000	0.09413|0.09413	0.010000|0.010000	0.13242|0.13242	0.121000|0.121000	0.18284|0.18284	-0.220000|-0.220000	0.12472|0.12472	GAG|TCT	MMGT1	-	NULL		0.602	MMGT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MMGT1	HGNC	protein_coding	OTTHUMT00000058453.3	C	NM_173470		135056076	-1	no_errors	ENST00000433339	ensembl	human	known	70_37	missense	SNP	0.000	T
MMP11	4320	genome.wustl.edu	37	22	24124460	24124460	+	Missense_Mutation	SNP	G	G	A			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr22:24124460G>A	ENST00000215743.3	+	7	1175	c.1123G>A	c.(1123-1125)Gca>Aca	p.A375T		NM_005940.3	NP_005931.2	P24347	MMP11_HUMAN	matrix metallopeptidase 11 (stromelysin 3)	375					basement membrane organization (GO:0071711)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|multicellular organismal development (GO:0007275)|negative regulation of fat cell differentiation (GO:0045599)|proteolysis (GO:0006508)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|liver(2)|lung(5)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	27		Medulloblastoma(6;9.86e-08)|all_neural(6;0.000318)			Marimastat(DB00786)	cctgggccccgcacccctcac	0.637																																																	0													59.0	58.0	58.0					22																	24124460		2203	4300	6503	SO:0001583	missense	4320				CCDS13816.1	22q11.23	2008-06-11	2005-08-08		ENSG00000099953	ENSG00000099953			7157	protein-coding gene	gene with protein product		185261	"""matrix metalloproteinase 11 (stromelysin 3)"""	STMY3		1639418, 7657606, 12006591	Standard	NM_005940		Approved		uc002zxx.3	P24347	OTTHUMG00000150742	ENST00000215743.3:c.1123G>A	22.37:g.24124460G>A	ENSP00000215743:p.Ala375Thr	Somatic		WXS	Illumina HiSeq	Phase_IV	Q5FX24|Q6PEZ6|Q9UC26	Missense_Mutation	SNP	pfam_Pept_M10_metallopeptidase,pfam_Hemopexin/matrixin_repeat,superfamily_Hemopexin/matrixin,smart_Peptidase_Metallo,smart_Hemopexin/matrixin_repeat,pirsf_Pept_M10A_matrix_strom,prints_Pept_M10A_matrixin	p.A375T	ENST00000215743.3	37	c.1123	CCDS13816.1	22	.	.	.	.	.	.	.	.	.	.	G	4.533	0.098890	0.08681	.	.	ENSG00000099953	ENST00000215743	T	0.02197	4.4	4.93	3.9	0.45041	Hemopexin/matrixin (2);	0.486042	0.24527	N	0.037744	T	0.01765	0.0056	N	0.19112	0.55	0.09310	N	1	B	0.25904	0.137	B	0.23852	0.049	T	0.44711	-0.9310	10	0.56958	D	0.05	.	5.7271	0.18018	0.0917:0.0:0.5558:0.3525	.	375	P24347	MMP11_HUMAN	T	375	ENSP00000215743:A375T	ENSP00000215743:A375T	A	+	1	0	MMP11	22454460	0.971000	0.33674	0.477000	0.27303	0.168000	0.22595	3.968000	0.56809	1.455000	0.47813	0.585000	0.79938	GCA	MMP11	-	pfam_Hemopexin/matrixin_repeat,superfamily_Hemopexin/matrixin,smart_Hemopexin/matrixin_repeat,pirsf_Pept_M10A_matrix_strom		0.637	MMP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MMP11	HGNC	protein_coding	OTTHUMT00000319891.2	G	NM_005940		24124460	+1	no_errors	ENST00000215743	ensembl	human	known	70_37	missense	SNP	0.028	A
MOCS1	4337	genome.wustl.edu	37	6	39893501	39893501	+	Silent	SNP	G	G	A			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr6:39893501G>A	ENST00000340692.5	-	3	342	c.339C>T	c.(337-339)ctC>ctT	p.L113L	MOCS1_ENST00000425303.2_Silent_p.L113L|MOCS1_ENST00000432280.2_Silent_p.L84L|MOCS1_ENST00000373195.3_Silent_p.L26L|MOCS1_ENST00000308559.7_Silent_p.L113L|MOCS1_ENST00000373186.4_Silent_p.L113L|MOCS1_ENST00000373188.2_Silent_p.L113L|MOCS1_ENST00000373175.4_Silent_p.L84L			Q9NZB8	MOCS1_HUMAN	molybdenum cofactor synthesis 1	113	Molybdenum cofactor biosynthesis protein A.				Mo-molybdopterin cofactor biosynthetic process (GO:0006777)|molybdopterin cofactor biosynthetic process (GO:0032324)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|molybdopterin synthase complex (GO:0019008)|nucleus (GO:0005634)	4 iron, 4 sulfur cluster binding (GO:0051539)|cyclic pyranopterin monophosphate synthase activity (GO:0061597)|GTP binding (GO:0005525)|metal ion binding (GO:0046872)			central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(1)|liver(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(2)	21	Ovarian(28;0.0355)|Colorectal(47;0.196)					CCTTCACAAAGAGCCGGGCGA	0.607																																					NSCLC(84;861 1413 23785 24908 42279)|Melanoma(182;611 2047 9114 11847 26639)												0													54.0	52.0	53.0					6																	39893501		2202	4293	6495	SO:0001819	synonymous_variant	4337			AJ224328	CCDS4846.1, CCDS43460.1	6p21.2	2012-05-08			ENSG00000124615	ENSG00000124615			7190	protein-coding gene	gene with protein product		603707				9731530, 10053004	Standard	NM_001075098		Approved	MOCOD	uc003opb.3	Q9NZB8	OTTHUMG00000014656	ENST00000340692.5:c.339C>T	6.37:g.39893501G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	B3KPT7|B4DTP1|O14940|O14941|O75710|Q5J7W0|Q5TCE1|Q5TCE2|Q5TCE6|Q5TCE9|Q5TCF0|Q5TCF1|Q8N418|Q9NZB7|Q9UEM1	Silent	SNP	pfam_Mopterin_CF_biosynth-C_dom,pfam_Mob_synth_C,pfam_rSAM,superfamily_Mopterin_CF_biosynth-C_dom,smart_Elp3/MiaB/NifB,tigrfam_MoaA,tigrfam_Mo_CF_biosynth-C	p.L113	ENST00000340692.5	37	c.339		6																																																																																			MOCS1	-	pfam_rSAM,smart_Elp3/MiaB/NifB,tigrfam_MoaA		0.607	MOCS1-005	KNOWN	basic|appris_candidate_longest	protein_coding	MOCS1	HGNC	protein_coding	OTTHUMT00000040476.2	G	NM_005943		39893501	-1	no_errors	ENST00000340692	ensembl	human	known	70_37	silent	SNP	1.000	A
MORC1	27136	genome.wustl.edu	37	3	108698464	108698464	+	Missense_Mutation	SNP	G	G	T			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr3:108698464G>T	ENST00000483760.1	-	23	2355	c.2312C>A	c.(2311-2313)gCc>gAc	p.A771D	MORC1_ENST00000232603.5_Missense_Mutation_p.A792D					MORC family CW-type zinc finger 1											breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						AGAAACTCTGGCTATGTGTCC	0.403																																																	0													123.0	115.0	118.0					3																	108698464		2203	4300	6503	SO:0001583	missense	27136			AF084946	CCDS2955.1	3q13	2011-10-26	2005-06-15	2005-06-15	ENSG00000114487	ENSG00000114487			7198	protein-coding gene	gene with protein product	"""cancer/testis antigen 33"""	603205	"""microrchidia (mouse) homolog"", ""microrchidia homolog (mouse)"""	MORC		10369865	Standard	NM_014429		Approved	ZCW6, CT33	uc003dxl.3	Q86VD1	OTTHUMG00000159209	ENST00000483760.1:c.2312C>A	3.37:g.108698464G>T	ENSP00000417282:p.Ala771Asp	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_Znf_CW,superfamily_ATPase-like_ATP-bd,pfscan_Znf_CW	p.A792D	ENST00000483760.1	37	c.2375		3	.	.	.	.	.	.	.	.	.	.	G	9.107	1.005511	0.19199	.	.	ENSG00000114487	ENST00000232603;ENST00000483760	T;T	0.06371	3.32;3.31	5.03	-4.26	0.03755	.	1.962640	0.02477	N	0.088074	T	0.04137	0.0115	L	0.29908	0.895	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.37454	-0.9705	10	0.12103	T	0.63	1.802	2.7898	0.05384	0.154:0.0956:0.3582:0.3922	.	771;792	E7ERX1;Q86VD1	.;MORC1_HUMAN	D	792;771	ENSP00000232603:A792D;ENSP00000417282:A771D	ENSP00000232603:A792D	A	-	2	0	MORC1	110181154	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.321000	0.08018	-0.897000	0.03910	-2.147000	0.00335	GCC	MORC1	-	NULL		0.403	MORC1-002	NOVEL	basic|appris_candidate|exp_conf	protein_coding	MORC1	HGNC	protein_coding	OTTHUMT00000353844.1	G			108698464	-1	no_errors	ENST00000232603	ensembl	human	known	70_37	missense	SNP	0.000	T
MORC1	27136	genome.wustl.edu	37	3	108751642	108751642	+	Missense_Mutation	SNP	G	G	A			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr3:108751642G>A	ENST00000483760.1	-	16	1533	c.1490C>T	c.(1489-1491)tCc>tTc	p.S497F	MORC1_ENST00000232603.5_Missense_Mutation_p.S497F					MORC family CW-type zinc finger 1											breast(7)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(47)|ovary(3)|prostate(6)|skin(12)|upper_aerodigestive_tract(3)	105						ATTAGTAGAGGAAGGCAAGAC	0.308																																																	0													57.0	60.0	59.0					3																	108751642		2200	4294	6494	SO:0001583	missense	27136			AF084946	CCDS2955.1	3q13	2011-10-26	2005-06-15	2005-06-15	ENSG00000114487	ENSG00000114487			7198	protein-coding gene	gene with protein product	"""cancer/testis antigen 33"""	603205	"""microrchidia (mouse) homolog"", ""microrchidia homolog (mouse)"""	MORC		10369865	Standard	NM_014429		Approved	ZCW6, CT33	uc003dxl.3	Q86VD1	OTTHUMG00000159209	ENST00000483760.1:c.1490C>T	3.37:g.108751642G>A	ENSP00000417282:p.Ser497Phe	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_Znf_CW,superfamily_ATPase-like_ATP-bd,pfscan_Znf_CW	p.S497F	ENST00000483760.1	37	c.1490		3	.	.	.	.	.	.	.	.	.	.	G	13.49	2.253272	0.39797	.	.	ENSG00000114487	ENST00000232603;ENST00000483760	T;T	0.05855	3.38;3.38	4.73	4.73	0.59995	Zinc finger, CW-type (2);	0.492580	0.17358	N	0.177153	T	0.06234	0.0161	N	0.25332	0.735	0.31217	N	0.697893	B;B	0.18461	0.028;0.001	B;B	0.19666	0.026;0.009	T	0.03597	-1.1021	10	0.46703	T	0.11	-0.005	13.0711	0.59061	0.0:0.0:1.0:0.0	.	497;497	E7ERX1;Q86VD1	.;MORC1_HUMAN	F	497	ENSP00000232603:S497F;ENSP00000417282:S497F	ENSP00000232603:S497F	S	-	2	0	MORC1	110234332	0.200000	0.23398	0.800000	0.32199	0.947000	0.59692	1.637000	0.37155	2.439000	0.82584	0.655000	0.94253	TCC	MORC1	-	pfam_Znf_CW,pfscan_Znf_CW		0.308	MORC1-002	NOVEL	basic|appris_candidate|exp_conf	protein_coding	MORC1	HGNC	protein_coding	OTTHUMT00000353844.1	G			108751642	-1	no_errors	ENST00000232603	ensembl	human	known	70_37	missense	SNP	0.864	A
MPDZ	8777	genome.wustl.edu	37	9	13205089	13205089	+	Missense_Mutation	SNP	C	C	T			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr9:13205089C>T	ENST00000319217.7	-	12	1739	c.1492G>A	c.(1492-1494)Gaa>Aaa	p.E498K	MPDZ_ENST00000447879.1_Missense_Mutation_p.E498K|MPDZ_ENST00000546205.1_Missense_Mutation_p.E498K|MPDZ_ENST00000536827.1_Missense_Mutation_p.E498K|MPDZ_ENST00000381022.2_Missense_Mutation_p.E498K|MPDZ_ENST00000541718.1_Missense_Mutation_p.E498K|MPDZ_ENST00000381015.4_Missense_Mutation_p.E498K	NM_001261406.1	NP_001248335.1	O75970	MPDZ_HUMAN	multiple PDZ domain protein	498					cell adhesion (GO:0007155)|myelination (GO:0042552)|viral process (GO:0016032)	apical plasma membrane (GO:0016324)|apicolateral plasma membrane (GO:0016327)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|neuron projection (GO:0043005)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)|tight junction (GO:0005923)	protein C-terminus binding (GO:0008022)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(15)|ovary(5)|prostate(7)|stomach(1)|urinary_tract(2)	61				GBM - Glioblastoma multiforme(50;2.03e-06)		AAAAAATCTTCATCTTTTTCA	0.259																																																	0													53.0	49.0	50.0					9																	13205089		1506	3361	4867	SO:0001583	missense	8777			AF093419	CCDS47951.1, CCDS59119.1, CCDS59120.1	9p23	2008-05-15			ENSG00000107186	ENSG00000107186			7208	protein-coding gene	gene with protein product		603785					Standard	NM_003829		Approved	MUPP1	uc003zlb.4	O75970	OTTHUMG00000021031	ENST00000319217.7:c.1492G>A	9.37:g.13205089C>T	ENSP00000320006:p.Glu498Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NLC2|B2RTS3|B7ZMI4|O43798|Q4LE30|Q5CZ80|Q5JTX3|Q5JTX6|Q5JTX7|Q5JUC3|Q5JUC4|Q5VZ62|Q8N790	Missense_Mutation	SNP	pfam_PDZ,pfam_L27_2,superfamily_PDZ,smart_PDZ,pfscan_L27,pfscan_PDZ	p.E498K	ENST00000319217.7	37	c.1492		9	.	.	.	.	.	.	.	.	.	.	C	14.46	2.543475	0.45280	.	.	ENSG00000107186	ENST00000319217;ENST00000541718;ENST00000381022;ENST00000536827;ENST00000447879;ENST00000381015;ENST00000399902;ENST00000546205	T;T;T;T;T;T;T	0.12361	2.73;2.69;2.69;2.7;2.74;2.73;2.73	5.82	4.87	0.63330	.	0.141093	0.32548	N	0.005952	T	0.08447	0.0210	N	0.19112	0.55	0.80722	D	1	B;B;B	0.22211	0.04;0.024;0.066	B;B;B	0.17433	0.008;0.007;0.018	T	0.24941	-1.0146	10	0.13108	T	0.6	.	12.0561	0.53536	0.0:0.827:0.173:0.0	.	498;498;498	B7ZMI4;O75970-3;O75970-2	.;.;.	K	498	ENSP00000320006:E498K;ENSP00000439807:E498K;ENSP00000370410:E498K;ENSP00000444151:E498K;ENSP00000415208:E498K;ENSP00000370403:E498K;ENSP00000446358:E498K	ENSP00000320006:E498K	E	-	1	0	MPDZ	13195089	1.000000	0.71417	1.000000	0.80357	0.615000	0.37417	2.032000	0.41127	2.753000	0.94483	0.467000	0.42956	GAA	MPDZ	-	NULL		0.259	MPDZ-001	KNOWN	not_organism_supported|basic	protein_coding	MPDZ	HGNC	protein_coding	OTTHUMT00000055485.2	C	NM_003829		13205089	-1	no_errors	ENST00000319217	ensembl	human	known	70_37	missense	SNP	1.000	T
MPEG1	219972	genome.wustl.edu	37	11	58979797	58979797	+	Missense_Mutation	SNP	C	C	T	rs370491206		TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr11:58979797C>T	ENST00000361050.3	-	1	627	c.542G>A	c.(541-543)cGt>cAt	p.R181H	RN7SL42P_ENST00000579786.1_RNA	NM_001039396.1	NP_001034485.1	Q2M385	MPEG1_HUMAN	macrophage expressed 1	181	MACPF. {ECO:0000255|PROSITE- ProRule:PRU00745}.					integral component of membrane (GO:0016021)				NS(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(21)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39		all_epithelial(135;0.125)				GTTCTCTAGACGGTCAGAGAT	0.522																																																	0								C	HIS/ARG	3,3923		0,3,1960	131.0	120.0	124.0		542	-1.4	0.1	11		124	0,8280		0,0,4140	no	missense	MPEG1	NM_001039396.1	29	0,3,6100	TT,TC,CC		0.0,0.0764,0.0246	probably-damaging	181/717	58979797	3,12203	1963	4140	6103	SO:0001583	missense	219972			AK097211	CCDS41650.1	11q12.1	2013-07-31				ENSG00000197629			29619	protein-coding gene	gene with protein product	"""macrophage expressed gene 1"""	610390				7888681, 23257510	Standard	NM_001039396		Approved	MPG1	uc001nnu.4	Q2M385		ENST00000361050.3:c.542G>A	11.37:g.58979797C>T	ENSP00000354335:p.Arg181His	Somatic		WXS	Illumina HiSeq	Phase_IV	Q2M1T6|Q8TEF8	Missense_Mutation	SNP	pfam_MACPF,smart_MACPF	p.R181H	ENST00000361050.3	37	c.542	CCDS41650.1	11	.	.	.	.	.	.	.	.	.	.	C	0.014	-1.594018	0.00857	7.64E-4	0.0	ENSG00000197629	ENST00000361050	D	0.84070	-1.8	5.2	-1.44	0.08856	Membrane attack complex component/perforin (MACPF) domain (3);	0.485207	0.22233	N	0.062790	T	0.68174	0.2972	L	0.45137	1.4	0.09310	N	1	B	0.11235	0.004	B	0.08055	0.003	T	0.50617	-0.8807	10	0.11182	T	0.66	-0.8451	5.387	0.16224	0.1354:0.3776:0.0:0.487	.	181	Q2M385	MPEG1_HUMAN	H	181	ENSP00000354335:R181H	ENSP00000354335:R181H	R	-	2	0	MPEG1	58736373	0.941000	0.31946	0.077000	0.20336	0.245000	0.25701	0.774000	0.26675	-0.600000	0.05790	-0.794000	0.03295	CGT	MPEG1	-	pfam_MACPF,smart_MACPF		0.522	MPEG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MPEG1	HGNC	protein_coding	OTTHUMT00000370027.1	C	NM_001039396		58979797	-1	no_errors	ENST00000361050	ensembl	human	known	70_37	missense	SNP	0.068	T
MPHOSPH10	10199	genome.wustl.edu	37	2	71375143	71375143	+	Missense_Mutation	SNP	T	T	G			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr2:71375143T>G	ENST00000244230.2	+	9	1924	c.1572T>G	c.(1570-1572)atT>atG	p.I524M		NM_005791.2	NP_005782.1	O00566	MPP10_HUMAN	M-phase phosphoprotein 10 (U3 small nucleolar ribonucleoprotein)	524					negative regulation of phosphatase activity (GO:0010923)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)|rRNA processing (GO:0006364)	chromosome (GO:0005694)|nucleolus (GO:0005730)|small nucleolar ribonucleoprotein complex (GO:0005732)	poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(2)|pancreas(2)|skin(2)|stomach(1)	26						TACCAGAGATTAAAGTTGTGT	0.433																																																	0													145.0	155.0	152.0					2																	71375143		2203	4300	6503	SO:0001583	missense	10199			X98494	CCDS1916.1	2p13.3	2014-06-12			ENSG00000124383	ENSG00000124383			7213	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 106"""	605503				8885239, 9450966	Standard	NM_005791		Approved	MPP10, MPP10P, CT90, PPP1R106	uc002sht.2	O00566	OTTHUMG00000129715	ENST00000244230.2:c.1572T>G	2.37:g.71375143T>G	ENSP00000244230:p.Ile524Met	Somatic		WXS	Illumina HiSeq	Phase_IV	A0AVJ8	Missense_Mutation	SNP	pfam_Mpp10,pirsf_snoRNP_Mpp10	p.I524M	ENST00000244230.2	37	c.1572	CCDS1916.1	2	.	.	.	.	.	.	.	.	.	.	T	13.29	2.193759	0.38707	.	.	ENSG00000124383	ENST00000244230;ENST00000425650	T;T	0.11821	2.74;2.74	5.64	0.378	0.16204	.	0.222808	0.46758	D	0.000277	T	0.17831	0.0428	L	0.39514	1.22	0.36298	D	0.856829	D	0.61697	0.99	D	0.65773	0.938	T	0.27088	-1.0084	10	0.31617	T	0.26	.	3.1274	0.06412	0.2812:0.2547:0.0:0.4641	.	524	O00566	MPP10_HUMAN	M	524;384	ENSP00000244230:I524M;ENSP00000393034:I384M	ENSP00000244230:I524M	I	+	3	3	MPHOSPH10	71228651	0.997000	0.39634	0.996000	0.52242	0.237000	0.25408	0.346000	0.19997	-0.087000	0.12528	0.533000	0.62120	ATT	MPHOSPH10	-	pfam_Mpp10,pirsf_snoRNP_Mpp10		0.433	MPHOSPH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MPHOSPH10	HGNC	protein_coding	OTTHUMT00000251924.2	T	NM_005791		71375143	+1	no_errors	ENST00000244230	ensembl	human	known	70_37	missense	SNP	0.993	G
MS4A1	931	genome.wustl.edu	37	11	60235878	60235878	+	Silent	SNP	G	G	A			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr11:60235878G>A	ENST00000534668.1	+	7	1120	c.831G>A	c.(829-831)acG>acA	p.T277T	MS4A1_ENST00000345732.4_Silent_p.T277T|MS4A1_ENST00000389939.2_Silent_p.T277T|MS4A1_ENST00000528313.1_Silent_p.T110T|MS4A1_ENST00000532073.1_Silent_p.T264T	NM_152866.2	NP_690605.1	P11836	CD20_HUMAN	membrane-spanning 4-domains, subfamily A, member 1	277					B cell proliferation (GO:0042100)|humoral immune response (GO:0006959)	external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	MHC class II protein complex binding (GO:0023026)	p.T277T(1)		endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(10)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	24					Ibritumomab(DB00078)|Obinutuzumab(DB08935)|Rituximab(DB00073)|Tositumomab(DB00081)	AAACAGAGACGAACTTTCCAG	0.378																																																	1	Substitution - coding silent(1)	large_intestine(1)											105.0	102.0	103.0					11																	60235878		2203	4300	6503	SO:0001819	synonymous_variant	931			M27394	CCDS31570.1	11q12-q13.1	2014-09-17				ENSG00000156738		"""CD molecules"""	7315	protein-coding gene	gene with protein product		112210		CD20		2448768	Standard	NM_152866		Approved	B1, Bp35, MS4A2	uc001npq.3	P11836		ENST00000534668.1:c.831G>A	11.37:g.60235878G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	A6NMS4|B4DT24|P08984|Q13963	Silent	SNP	pfam_CD20-like	p.T277	ENST00000534668.1	37	c.831	CCDS31570.1	11																																																																																			MS4A1	-	NULL		0.378	MS4A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MS4A1	HGNC	protein_coding	OTTHUMT00000395402.1	G			60235878	+1	no_errors	ENST00000345732	ensembl	human	known	70_37	silent	SNP	0.109	A
APEH	327	genome.wustl.edu	37	3	49723358	49723358	+	IGR	SNP	C	C	T			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr3:49723358C>T	ENST00000296456.5	+	0	3220				MST1_ENST00000494828.2_5'Flank|AC099668.5_ENST00000563780.1_RNA|MST1_ENST00000383728.3_3'UTR|MST1_ENST00000449682.2_Silent_p.T395T	NM_001640.3	NP_001631.3	P13798	ACPH_HUMAN	acylaminoacyl-peptide hydrolase						beta-amyloid metabolic process (GO:0050435)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nuclear membrane (GO:0031965)	omega peptidase activity (GO:0008242)|poly(A) RNA binding (GO:0044822)|serine-type endopeptidase activity (GO:0004252)			endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|skin(1)|stomach(2)|urinary_tract(1)	15				BRCA - Breast invasive adenocarcinoma(193;4.53e-05)|Kidney(197;0.00218)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)		TCTTGCTGACCGTGCCGCGGT	0.726																																																	0													24.0	25.0	25.0					3																	49723358		2191	4282	6473	SO:0001628	intergenic_variant	4485			D38441	CCDS2801.1	3p21	2013-05-29	2013-05-29		ENSG00000164062	ENSG00000164062	3.4.19.1		586	protein-coding gene	gene with protein product	"""acylaminoacyl-peptidase"""	102645	"""N-acylaminoacyl-peptide hydrolase"""	D3F15S2, DNF15S2, D3S48E		2392324	Standard	NM_001640		Approved		uc003cxf.3	P13798	OTTHUMG00000156882		3.37:g.49723358C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q9BQ33|Q9P0Y2	Silent	SNP	pfam_Kringle,pfam_Peptidase_S1_S6,pfam_PAN-1_domain,superfamily_Pept_cys/ser_Trypsin-like,superfamily_Kringle-like,smart_Pan_app,smart_Kringle,smart_Peptidase_S1_S6,pfscan_Pan_app,pfscan_Kringle,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A	p.T395	ENST00000296456.5	37	c.1185	CCDS2801.1	3																																																																																			MST1	-	pfam_Kringle,superfamily_Kringle-like,smart_Kringle,pfscan_Kringle		0.726	APEH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MST1	HGNC	protein_coding	OTTHUMT00000346415.2	C			49723358	-1	no_errors	ENST00000449682	ensembl	human	known	70_37	silent	SNP	0.000	T
MST1L	11223	genome.wustl.edu	37	1	17085992	17085992	+	RNA	SNP	C	C	G			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr1:17085992C>G	ENST00000455405.2	-	0	0							Q2TV78	MST1L_HUMAN	macrophage stimulating 1-like							extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)										CGTCCCAACGCCCGCCCCCCC	0.652																																																	0																																												11223			U28055, AF083416		1p36.33	2013-03-27	2012-11-09	2012-11-09	ENSG00000186715	ENSG00000186715			7390	other	unknown			"""macrophage stimulating, pseudogene 7"", ""macrophage stimulating, pseudogene 9"", ""macrophage stimulating 1 (hepatocyte growth factor-like) pseudogene 9"""	MSTP7, MSTP9, MST1P9		10728827	Standard	NM_001271733		Approved	D1F15S1A, MSPL7, MSPL-7	uc010ock.3	Q2TV78	OTTHUMG00000002578		1.37:g.17085992C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	B7WPB1|Q13209	Missense_Mutation	SNP	pfam_Kringle,pfam_Peptidase_S1_S6,pfam_PAN-1_domain,superfamily_Pept_cys/ser_Trypsin-like,superfamily_Kringle-like,smart_Pan_app,smart_Kringle,smart_Peptidase_S1_S6,pfscan_Pan_app,pfscan_Kringle,pfscan_Peptidase_S1_S6	p.G302A	ENST00000455405.2	37	c.905		1	.	.	.	.	.	.	.	.	.	.	.	3.507	-0.100576	0.06967	.	.	ENSG00000186715	ENST00000334998;ENST00000442552	.	.	.	.	.	.	.	.	.	.	.	T	0.33731	0.0873	.	.	.	.	.	.	B	0.09022	0.002	B	0.01281	0.0	T	0.31447	-0.9943	4	0.66056	D	0.02	.	.	.	.	.	302	Q2TV78-2	.	A	302	.	ENSP00000439273:G302A	G	-	2	0	MST1P9	16958579	0.003000	0.15002	0.000000	0.03702	0.000000	0.00434	0.157000	0.16402	-0.000000	0.14550	0.000000	0.15137	GGC	MST1L	-	pfam_Kringle,superfamily_Kringle-like,smart_Kringle,pfscan_Kringle		0.652	MST1L-002	KNOWN	basic	processed_transcript	MST1L	HGNC	pseudogene	OTTHUMT00000400328.1	C	NM_001271733		17085992	-1	no_errors	ENST00000334998	ensembl	human	known	70_37	missense	SNP	0.960	G
MT-CO1	4512	genome.wustl.edu	37	M	6045	6045	+	Silent	SNP	C	C	T			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chrM:6045C>T	ENST00000361624.2	+	1	142	c.142C>T	c.(142-144)Cta>Tta	p.L48L	MT-TL1_ENST00000386347.1_RNA|MT-TM_ENST00000387377.1_RNA|MT-TD_ENST00000387419.1_RNA|MT-TK_ENST00000387421.1_RNA|MT-TI_ENST00000387365.1_RNA|MT-ATP6_ENST00000361899.2_5'Flank|MT-RNR2_ENST00000387347.2_RNA|MT-TW_ENST00000387382.1_RNA|MT-TA_ENST00000387392.1_RNA|MT-TN_ENST00000387400.1_RNA|MT-TY_ENST00000387409.1_RNA|MT-TS1_ENST00000387416.2_RNA|MT-TQ_ENST00000387372.1_RNA|MT-TC_ENST00000387405.1_RNA|MT-ATP8_ENST00000361851.1_5'Flank|MT-CO2_ENST00000361739.1_5'Flank			P00395	COX1_HUMAN	mitochondrially encoded cytochrome c oxidase I	48					aerobic respiration (GO:0009060)|cellular metabolic process (GO:0044237)|hydrogen ion transmembrane transport (GO:1902600)|oxidative phosphorylation (GO:0006119)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex IV (GO:0005751)|respiratory chain complex IV (GO:0045277)	cytochrome-c oxidase activity (GO:0004129)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			breast(4)|endometrium(25)|kidney(19)|lung(3)|prostate(3)	54						CAGGCAACCTTCTAGGTAACG	0.473																																																	0																																										SO:0001819	synonymous_variant	4512					mitochondria	2011-07-04	2005-02-15	2005-02-16	ENSG00000198804	ENSG00000198804		"""Mitochondrial respiratory chain complex / Complex IV"""	7419	protein-coding gene	gene with protein product		516030	"""cytochrome c oxidase I"""	MTCO1		7219534	Standard			Approved	COX1, COI		P00395		ENST00000361624.2:c.142C>T	M.37:g.6045C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q34770	Silent	SNP	pfam_Cyt_c_Oxase_su1,superfamily_Cyt_c_Oxase_su1_dom,pfscan_Cyt_c_Oxase_su1_dom,prints_Cyt_c_Oxase_su1	p.L48	ENST00000361624.2	37	c.142		MT																																																																																			MT-CO1	-	pfam_Cyt_c_Oxase_su1,superfamily_Cyt_c_Oxase_su1_dom,pfscan_Cyt_c_Oxase_su1_dom		0.473	MT-CO1-201	KNOWN	basic|appris_principal	protein_coding	MT-CO1	HGNC	protein_coding		C	YP_003024028		6045	+1	no_errors	ENST00000361624	ensembl	human	known	70_37	silent	SNP	NULL	T
MT-ATP6	4508	genome.wustl.edu	37	M	8967	8967	+	Silent	SNP	C	C	A			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chrM:8967C>A	ENST00000361899.2	+	1	441	c.441C>A	c.(439-441)atC>atA	p.I147I	MT-CO3_ENST00000362079.2_5'Flank|MT-TD_ENST00000387419.1_RNA|MT-TK_ENST00000387421.1_RNA|MT-ND3_ENST00000361227.2_5'Flank|MT-TG_ENST00000387429.1_RNA|MT-ND4L_ENST00000361335.1_5'Flank|MT-TS1_ENST00000387416.2_RNA|MT-TR_ENST00000387439.1_RNA|MT-ND4_ENST00000361381.2_5'Flank			P00846	ATP6_HUMAN	mitochondrially encoded ATP synthase 6	147					ATP catabolic process (GO:0006200)|cellular metabolic process (GO:0044237)|mitochondrial ATP synthesis coupled proton transport (GO:0042776)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial proton-transporting ATP synthase complex (GO:0005753)|proton-transporting ATP synthase complex, coupling factor F(o) (GO:0045263)	hydrogen ion transmembrane transporter activity (GO:0015078)|transmembrane transporter activity (GO:0022857)			breast(2)|endometrium(7)|kidney(8)|prostate(1)	18						ATCGAAACCATCAGCCTACTC	0.478																																																	0																																										SO:0001819	synonymous_variant	4508					mitochondria	2012-11-16	2005-02-15	2005-02-16	ENSG00000198899	ENSG00000198899		"""Mitochondrial respiratory chain complex / Complex V"", ""ATPases / F-type"""	7414	protein-coding gene	gene with protein product		516060	"""ATP synthase 6"", ""spicular retinitis pigmentosa with dementia, seizures, ataxia, proximal muscle weakness and sensory deficit"""	MTATP6, RP		7219534	Standard			Approved	ATP6, ATPase-6, Su6m		P00846		ENST00000361899.2:c.441C>A	M.37:g.8967C>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q34772|Q5S8W5|Q5S9E7|Q5S9I6|Q5SA31|Q6RPB7|Q6VHC0|Q6VHE0|Q6WQF4|Q7YCC1|Q7YCF8|Q7YCG1|Q85KU8|Q85KX1|Q85L05|Q8HNQ4|Q8HNQ8|Q8WCX6|Q9B2U5|Q9B2Z2	Missense_Mutation	SNP	pfam_ATPase_F0-cplx_asu,superfamily_ATPase_F0-cplx_asu,prints_ATPase_F0-cplx_asu,tigrfam_ATPase_F0-cplx_asu	p.I147M	ENST00000361899.2	37	c.441		MT																																																																																			MT-ATP6	-	pfam_ATPase_F0-cplx_asu,superfamily_ATPase_F0-cplx_asu,prints_ATPase_F0-cplx_asu,tigrfam_ATPase_F0-cplx_asu		0.478	MT-ATP6-201	KNOWN	basic|appris_principal	protein_coding	MT-ATP6	HGNC	protein_coding		C	YP_003024031		8967	+1	no_errors	ENST00000361899	ensembl	human	known	70_37	missense	SNP	NULL	A
MTA1	9112	genome.wustl.edu	37	14	105930894	105930894	+	Missense_Mutation	SNP	G	G	A			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr14:105930894G>A	ENST00000331320.7	+	14	1548	c.1334G>A	c.(1333-1335)cGc>cAc	p.R445H	MTA1_ENST00000405646.1_Missense_Mutation_p.R428H|MTA1_ENST00000435036.2_5'UTR|MTA1_ENST00000406191.1_Missense_Mutation_p.R445H	NM_001203258.1|NM_004689.3	NP_001190187.1|NP_004680.2	Q13330	MTA1_HUMAN	metastasis associated 1	445					circadian regulation of gene expression (GO:0032922)|double-strand break repair (GO:0006302)|entrainment of circadian clock by photoperiod (GO:0043153)|locomotor rhythm (GO:0045475)|positive regulation of protein autoubiquitination (GO:1902499)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|regulation of gene expression, epigenetic (GO:0040029)|regulation of inflammatory response (GO:0050727)|response to ionizing radiation (GO:0010212)|response to lipopolysaccharide (GO:0032496)|secretory granule organization (GO:0033363)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|intracellular membrane-bounded organelle (GO:0043231)|microtubule (GO:0005874)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)|NuRD complex (GO:0016581)	chromatin binding (GO:0003682)|core promoter binding (GO:0001047)|core promoter sequence-specific DNA binding (GO:0001046)|RNA polymerase II repressing transcription factor binding (GO:0001103)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(5)|stomach(1)	14		all_cancers(154;0.0293)|all_epithelial(191;0.128)|Melanoma(154;0.155)	OV - Ovarian serous cystadenocarcinoma(23;0.00897)|Epithelial(46;0.026)	Epithelial(152;0.19)		GGACCAAACCGCAGTAACATG	0.597																																																	0													47.0	48.0	48.0					14																	105930894		2201	4300	6501	SO:0001583	missense	9112			U35113	CCDS32169.1, CCDS55954.1	14q32.33	2013-01-25			ENSG00000182979	ENSG00000182979		"""GATA zinc finger domain containing"""	7410	protein-coding gene	gene with protein product		603526				8083195, 7607577	Standard	NM_004689		Approved		uc001yqx.3	Q13330	OTTHUMG00000150362	ENST00000331320.7:c.1334G>A	14.37:g.105930894G>A	ENSP00000333633:p.Arg445His	Somatic		WXS	Illumina HiSeq	Phase_IV	A5PLK4|Q86SW2|Q8NFI8|Q96GI8	Missense_Mutation	SNP	pfam_BAH_dom,pfam_ELM2_dom,pfam_Znf_GATA,superfamily_Homeodomain-like,smart_BAH_dom,smart_SANT/Myb,smart_Znf_GATA,pfscan_BAH_dom,pfscan_ELM2_dom	p.R445H	ENST00000331320.7	37	c.1334	CCDS32169.1	14	.	.	.	.	.	.	.	.	.	.	G	31	5.059304	0.93846	.	.	ENSG00000182979	ENST00000414153;ENST00000331320;ENST00000406191;ENST00000405646;ENST00000434050;ENST00000550551	T;T;T;T	0.33654	1.41;1.4;1.41;1.42	5.19	4.29	0.51040	.	0.000000	0.85682	D	0.000000	T	0.55065	0.1897	.	.	.	0.80722	D	1	D;B	0.89917	1.0;0.223	D;B	0.64595	0.927;0.016	T	0.57470	-0.7806	9	0.54805	T	0.06	-26.6237	12.8963	0.58101	0.0818:0.0:0.9181:0.0	.	237;445	Q59FW1;Q13330	.;MTA1_HUMAN	H	354;445;445;428;237;34	ENSP00000333633:R445H;ENSP00000385702:R445H;ENSP00000384180:R428H;ENSP00000394106:R237H	ENSP00000333633:R445H	R	+	2	0	MTA1	105001939	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	9.650000	0.98490	2.445000	0.82738	0.462000	0.41574	CGC	MTA1	-	NULL		0.597	MTA1-001	KNOWN	basic|CCDS	protein_coding	MTA1	HGNC	protein_coding	OTTHUMT00000317849.15	G			105930894	+1	no_errors	ENST00000331320	ensembl	human	known	70_37	missense	SNP	1.000	A
MTL5	9633	genome.wustl.edu	37	11	68517982	68517982	+	Silent	SNP	G	G	A			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr11:68517982G>A	ENST00000255087.5	-	2	330	c.147C>T	c.(145-147)ttC>ttT	p.F49F	MTL5_ENST00000544963.1_Silent_p.F49F|MTL5_ENST00000443940.2_Silent_p.F49F|MTL5_ENST00000540869.1_5'Flank	NM_004923.3	NP_004914.2	Q9Y4I5	MTL5_HUMAN	metallothionein-like 5, testis-specific (tesmin)	49					cell differentiation (GO:0030154)|cellular metal ion homeostasis (GO:0006875)|multicellular organismal development (GO:0007275)|response to metal ion (GO:0010038)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)			breast(2)|cervix(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(2)	15	Esophageal squamous(3;4.37e-12)		LUAD - Lung adenocarcinoma(13;0.0676)|STAD - Stomach adenocarcinoma(18;0.185)			ACGCTTCTTTGAAGACGTGGA	0.652																																																	0													25.0	20.0	22.0					11																	68517982		2194	4293	6487	SO:0001819	synonymous_variant	9633			U86074	CCDS8184.1, CCDS44661.1	11q13.2-q13.3	2007-01-03			ENSG00000132749	ENSG00000132749			7446	protein-coding gene	gene with protein product	"""CXC domain containing 2"""	604374				1091092	Standard	XR_428932		Approved	CXCDC2	uc001ooc.3	Q9Y4I5	OTTHUMG00000167891	ENST00000255087.5:c.147C>T	11.37:g.68517982G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	A8K8J3|Q4G182|Q6P2E2|Q8NCC8	Silent	SNP	pfam_CRC,superfamily_Thionin	p.F49	ENST00000255087.5	37	c.147	CCDS8184.1	11																																																																																			MTL5	-	NULL		0.652	MTL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MTL5	HGNC	protein_coding	OTTHUMT00000396844.1	G	NM_004923		68517982	-1	no_errors	ENST00000255087	ensembl	human	known	70_37	silent	SNP	0.000	A
MTUS2	23281	genome.wustl.edu	37	13	30061712	30061712	+	Intron	SNP	G	G	C			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr13:30061712G>C	ENST00000380808.2	+	4	552				MTUS2-AS1_ENST00000323380.5_RNA|MTUS2-AS1_ENST00000587588.1_RNA|MTUS2_ENST00000431530.3_Intron|MTUS2_ENST00000542829.1_Intron	NM_015233.5	NP_056048.1	Q5JR59	MTUS2_HUMAN	microtubule associated tumor suppressor candidate 2							cytoplasm (GO:0005737)|microtubule (GO:0005874)	microtubule binding (GO:0008017)|protein homodimerization activity (GO:0042803)			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						TTCCTTTGCCGTCATCGCTCA	0.552																																																	0																																										SO:0001627	intron_variant	100874107			AB018317	CCDS41874.1, CCDS45022.1	13q12.3	2013-01-17	2009-10-20	2009-10-20	ENSG00000132938	ENSG00000132938			20595	protein-coding gene	gene with protein product	"""+TIP of 150 kDa"", ""cardiac zipper protein"""		"""KIAA0774"""	KIAA0774		19543227	Standard	NM_001033602		Approved	TIP150, CAZIP, ICIS	uc001usl.4	Q5JR59	OTTHUMG00000016657	ENST00000380808.2:c.337-325G>C	13.37:g.30061712G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	A7E292|B4DF81|O94872|Q08E97|Q5JQR3|Q8N5E2	RNA	SNP	-	NULL	ENST00000380808.2	37	NULL	CCDS41874.1	13																																																																																			MTUS2-AS1	-	-		0.552	MTUS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MTUS2-AS1	HGNC	protein_coding	OTTHUMT00000044335.2	G	XM_166270		30061712	-1	no_errors	ENST00000323380	ensembl	human	known	70_37	rna	SNP	0.000	C
MUC17	140453	genome.wustl.edu	37	7	100674975	100674975	+	Missense_Mutation	SNP	C	C	T			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr7:100674975C>T	ENST00000306151.4	+	3	342	c.278C>T	c.(277-279)tCg>tTg	p.S93L		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	93	Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)	p.S93L(1)		NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					GAGATGACCTCGATTGAGTCC	0.488																																																	1	Substitution - Missense(1)	large_intestine(1)											120.0	112.0	115.0					7																	100674975		2203	4300	6503	SO:0001583	missense	140453			AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"""Mucins"""	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.278C>T	7.37:g.100674975C>T	ENSP00000302716:p.Ser93Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	pfam_SEA,smart_SEA,pfscan_EG-like_dom,pfscan_SEA	p.S93L	ENST00000306151.4	37	c.278	CCDS34711.1	7	.	.	.	.	.	.	.	.	.	.	T	0.262	-0.998900	0.02128	.	.	ENSG00000169876	ENST00000306151	T	0.02606	4.23	0.678	-1.36	0.09085	.	.	.	.	.	T	0.01592	0.0051	N	0.14661	0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.46803	-0.9165	8	0.38643	T	0.18	.	.	.	.	.	93	Q685J3	MUC17_HUMAN	L	93	ENSP00000302716:S93L	ENSP00000302716:S93L	S	+	2	0	MUC17	100461695	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.032000	0.03574	-3.036000	0.00264	-1.605000	0.00808	TCG	MUC17	-	NULL		0.488	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MUC17	HGNC	protein_coding	OTTHUMT00000347161.1	C	NM_001040105		100674975	+1	no_errors	ENST00000306151	ensembl	human	known	70_37	missense	SNP	0.000	T
MUC5B	727897	genome.wustl.edu	37	11	1263798	1263798	+	Silent	SNP	G	G	A			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr11:1263798G>A	ENST00000529681.1	+	31	5746	c.5688G>A	c.(5686-5688)acG>acA	p.T1896T	RP11-532E4.2_ENST00000532061.2_RNA|MUC5B_ENST00000447027.1_Silent_p.T1899T	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	1896	11 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich.				cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)				cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		CCACGGCCACGCCCTCCTCAA	0.622																																																	0													89.0	110.0	103.0					11																	1263798		2184	4263	6447	SO:0001819	synonymous_variant	727897			U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"""Mucins"""	7516	protein-coding gene	gene with protein product		600770	"""mucin 5, subtype B, tracheobronchial"""	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.5688G>A	11.37:g.1263798G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Silent	SNP	pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_VWF_C,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_VWF_C,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_VWF_C	p.T1899	ENST00000529681.1	37	c.5697	CCDS44515.2	11																																																																																			MUC5B	-	NULL		0.622	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	MUC5B	HGNC	protein_coding	OTTHUMT00000390041.2	G	XM_001126093		1263798	+1	no_errors	ENST00000447027	ensembl	human	known	70_37	silent	SNP	0.000	A
MUSK	4593	genome.wustl.edu	37	9	113550016	113550016	+	Missense_Mutation	SNP	A	A	C			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr9:113550016A>C	ENST00000374448.4	+	14	1959	c.1825A>C	c.(1825-1827)Aag>Cag	p.K609Q	MUSK_ENST00000189978.5_Missense_Mutation_p.K609Q|MUSK_ENST00000374438.1_Missense_Mutation_p.K125Q|MUSK_ENST00000416899.2_Missense_Mutation_p.K601Q	NM_001166281.1|NM_005592.3	NP_001159753.1|NP_005583.1	O15146	MUSK_HUMAN	muscle, skeletal, receptor tyrosine kinase	609	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell differentiation (GO:0030154)|extracellular matrix organization (GO:0030198)|memory (GO:0007613)|multicellular organismal development (GO:0007275)|neuromuscular junction development (GO:0007528)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of gene expression (GO:0010628)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of protein geranylgeranylation (GO:2000541)|positive regulation of protein phosphorylation (GO:0001934)|protein autophosphorylation (GO:0046777)|regulation of synaptic growth at neuromuscular junction (GO:0008582)|regulation of transcription, DNA-templated (GO:0006355)|skeletal muscle acetylcholine-gated channel clustering (GO:0071340)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|neuromuscular junction (GO:0031594)|postsynaptic membrane (GO:0045211)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|lung(23)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	49						GGTGGCAGTAAAGATGCTCAA	0.433																																																	0													80.0	74.0	76.0					9																	113550016		1876	4100	5976	SO:0001583	missense	4593			AF006464	CCDS48005.1, CCDS75874.1	9q31.3-q32	2013-01-29			ENSG00000030304	ENSG00000030304		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	7525	protein-coding gene	gene with protein product		601296				7546737	Standard	NM_005592		Approved		uc022blv.1	O15146	OTTHUMG00000020485	ENST00000374448.4:c.1825A>C	9.37:g.113550016A>C	ENSP00000363571:p.Lys609Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	Q32MJ8|Q32MJ9|Q5VZW7|Q5VZW8	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ig_I-set,pfam_Prot_kinase_cat_dom,pfam_Frizzled_dom,pfam_Immunoglobulin,pfam_Ig_V-set,superfamily_Kinase-like_dom,superfamily_Frizzled_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Frizzled_dom,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,prints_Ser-Thr/Tyr_kinase_cat_dom	p.K615Q	ENST00000374448.4	37	c.1843	CCDS48005.1	9	.	.	.	.	.	.	.	.	.	.	A	28.7	4.946621	0.92593	.	.	ENSG00000030304	ENST00000189978;ENST00000374448;ENST00000543335;ENST00000374447;ENST00000545907;ENST00000374441;ENST00000416899;ENST00000374438	T;D	0.97888	-1.22;-4.59	6.08	6.08	0.98989	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.98966	0.9648	M	0.94063	3.49	0.80722	D	1	D	0.64830	0.994	D	0.68943	0.961	D	0.99529	1.0960	10	0.87932	D	0	.	14.3847	0.66938	1.0:0.0:0.0:0.0	.	609	O15146	MUSK_HUMAN	Q	615;609;609;523;523;125;607;125	ENSP00000363571:K609Q;ENSP00000363561:K125Q	ENSP00000189978:K615Q	K	+	1	0	MUSK	112589837	1.000000	0.71417	0.998000	0.56505	0.994000	0.84299	8.962000	0.93254	2.333000	0.79357	0.533000	0.62120	AAG	MUSK	-	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom		0.433	MUSK-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MUSK	HGNC	protein_coding		A			113550016	+1	no_errors	ENST00000189978	ensembl	human	known	70_37	missense	SNP	1.000	C
MVD	4597	genome.wustl.edu	37	16	88725118	88725118	+	Silent	SNP	G	G	A	rs370058051		TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr16:88725118G>A	ENST00000301012.3	-	2	110	c.81C>T	c.(79-81)cgC>cgT	p.R27R	MVD_ENST00000568709.1_5'UTR	NM_002461.1	NP_002452.1	P53602	MVD1_HUMAN	mevalonate (diphospho) decarboxylase	27					cellular protein metabolic process (GO:0044267)|cholesterol biosynthetic process (GO:0006695)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|dolichyl diphosphate biosynthetic process (GO:0006489)|isopentenyl diphosphate biosynthetic process, mevalonate pathway (GO:0019287)|isoprenoid biosynthetic process (GO:0008299)|positive regulation of cell proliferation (GO:0008284)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	ATP binding (GO:0005524)|diphosphomevalonate decarboxylase activity (GO:0004163)|Hsp70 protein binding (GO:0030544)|protein homodimerization activity (GO:0042803)			endometrium(3)|large_intestine(1)|lung(7)|ovary(1)	12				BRCA - Breast invasive adenocarcinoma(80;0.0478)		GCTCTTCATCGCGCTTGCCCC	0.637													G|||	1	0.000199681	0.0	0.0	5008	,	,		10572	0.0		0.001	False		,,,				2504	0.0																0								G		0,4396		0,0,2198	134.0	103.0	113.0		81	-8.1	0.9	16		113	1,8595	1.2+/-3.3	0,1,4297	no	coding-synonymous	MVD	NM_002461.1		0,1,6495	AA,AG,GG		0.0116,0.0,0.0077		27/401	88725118	1,12991	2198	4298	6496	SO:0001819	synonymous_variant	4597			U49260	CCDS10968.1	16q24.3	2010-04-29			ENSG00000167508	ENSG00000167508	4.1.1.33		7529	protein-coding gene	gene with protein product	"""mevalonate pyrophosphate decarboxylase"""	603236				8626466	Standard	NM_002461		Approved	MPD	uc002flg.1	P53602	OTTHUMG00000137865	ENST00000301012.3:c.81C>T	16.37:g.88725118G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q53Y65	Nonsense_Mutation	SNP	NULL	p.R51*	ENST00000301012.3	37	c.151	CCDS10968.1	16																																																																																			MVD	-	NULL		0.637	MVD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MVD	HGNC	protein_coding	OTTHUMT00000269547.2	G	NM_002461		88725118	-1	no_errors	ENST00000567064	ensembl	human	known	70_37	nonsense	SNP	0.297	A
MYBPC2	4606	genome.wustl.edu	37	19	50958852	50958852	+	Silent	SNP	C	C	T			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr19:50958852C>T	ENST00000357701.5	+	20	2340	c.2289C>T	c.(2287-2289)atC>atT	p.I763I		NM_004533.3	NP_004524.3	Q14324	MYPC2_HUMAN	myosin binding protein C, fast type	763	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|muscle filament sliding (GO:0030049)	cytosol (GO:0005829)|myosin filament (GO:0032982)	structural constituent of muscle (GO:0008307)			breast(1)	1		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.0079)|GBM - Glioblastoma multiforme(134;0.0144)		CGAACAGGATCGGGGCAGGTG	0.612																																																	0													79.0	85.0	83.0					19																	50958852		2040	4193	6233	SO:0001819	synonymous_variant	4606				CCDS46152.1	19q13.33	2013-02-11	2001-11-28		ENSG00000086967	ENSG00000086967		"""Myosin binding proteins"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7550	protein-coding gene	gene with protein product	"""fast-type muscle myosin-binding-protein C"""	160793	"""myosin-binding protein C, fast-type"""			8375400	Standard	NM_004533		Approved	MYBPCF, MYBPC, MGC163408	uc002psf.2	Q14324		ENST00000357701.5:c.2289C>T	19.37:g.50958852C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A1L4G9	Silent	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.I763	ENST00000357701.5	37	c.2289	CCDS46152.1	19																																																																																			MYBPC2	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.612	MYBPC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYBPC2	HGNC	protein_coding	OTTHUMT00000464751.1	C	NM_004533		50958852	+1	no_errors	ENST00000357701	ensembl	human	known	70_37	silent	SNP	0.906	T
MYBPHL	343263	genome.wustl.edu	37	1	109837879	109837879	+	Missense_Mutation	SNP	C	C	T			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr1:109837879C>T	ENST00000357155.1	-	7	957	c.908G>A	c.(907-909)gGc>gAc	p.G303D	MYBPHL_ENST00000477962.1_5'UTR	NM_001010985.2|NM_001265613.1	NP_001010985.2|NP_001252542.1	A2RUH7	MBPHL_HUMAN	myosin binding protein H-like	303	Ig-like C2-type 2.									central_nervous_system(1)|large_intestine(3)|lung(5)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(2)	14		all_lung(203;0.00519)|all_epithelial(167;0.00575)|Lung NSC(277;0.00822)		Colorectal(144;0.0306)|Lung(183;0.0681)|COAD - Colon adenocarcinoma(174;0.117)|Epithelial(280;0.197)|all cancers(265;0.225)		CTTAGGGTTGCCTTGGATATC	0.532																																																	0													116.0	103.0	107.0					1																	109837879		2203	4300	6503	SO:0001583	missense	343263			AK129834	CCDS30793.1	1p13	2013-02-11			ENSG00000221986	ENSG00000221986		"""Myosin binding proteins"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	30434	protein-coding gene	gene with protein product							Standard	NM_001010985		Approved		uc001dxk.1	A2RUH7	OTTHUMG00000012002	ENST00000357155.1:c.908G>A	1.37:g.109837879C>T	ENSP00000349678:p.Gly303Asp	Somatic		WXS	Illumina HiSeq	Phase_IV	B7ZME5|Q5T2Z7	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.G303D	ENST00000357155.1	37	c.908	CCDS30793.1	1	.	.	.	.	.	.	.	.	.	.	C	9.425	1.084094	0.20309	.	.	ENSG00000221986	ENST00000357155	T	0.66099	-0.19	5.25	4.34	0.51931	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.30759	0.0775	N	0.02286	-0.61	0.36314	D	0.857855	D;B	0.89917	1.0;0.01	D;B	0.97110	1.0;0.015	T	0.42050	-0.9474	9	0.05959	T	0.93	.	7.6663	0.28432	0.0:0.8162:0.0:0.1838	.	280;303	B7ZME5;A2RUH7	.;MBPHL_HUMAN	D	303	ENSP00000349678:G303D	ENSP00000349678:G303D	G	-	2	0	MYBPHL	109639402	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.386000	0.52492	1.442000	0.47568	0.561000	0.74099	GGC	MYBPHL	-	pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like		0.532	MYBPHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYBPHL	HGNC	protein_coding	OTTHUMT00000033197.1	C	NM_001010985		109837879	-1	no_errors	ENST00000357155	ensembl	human	known	70_37	missense	SNP	0.993	T
MYH15	22989	genome.wustl.edu	37	3	108172921	108172921	+	Missense_Mutation	SNP	G	G	C			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr3:108172921G>C	ENST00000273353.3	-	22	2447	c.2391C>G	c.(2389-2391)ttC>ttG	p.F797L	MYH15_ENST00000495753.2_5'Flank	NM_014981.1	NP_055796.1	Q9Y2K3	MYH15_HUMAN	myosin, heavy chain 15	797	IQ.					cytoplasm (GO:0005737)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						GGAACAATGTGAAGACTTTAG	0.438																																																	0													108.0	99.0	102.0					3																	108172921		1887	4117	6004	SO:0001583	missense	22989			AB023217	CCDS43127.1	3q13	2011-09-27	2006-09-29		ENSG00000144821	ENSG00000144821		"""Myosins / Myosin superfamily : Class II"""	31073	protein-coding gene	gene with protein product		609929	"""myosin, heavy polypeptide 15"""			15014174, 15042088	Standard	NM_014981		Approved	KIAA1000	uc003dxa.1	Q9Y2K3	OTTHUMG00000159226	ENST00000273353.3:c.2391C>G	3.37:g.108172921G>C	ENSP00000273353:p.Phe797Leu	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,superfamily_Prefoldin,superfamily_Lambda_DNA-bd_dom,smart_Myosin_head_motor_dom,prints_Myosin_head_motor_dom	p.F797L	ENST00000273353.3	37	c.2391	CCDS43127.1	3	.	.	.	.	.	.	.	.	.	.	G	10.22	1.290383	0.23478	.	.	ENSG00000144821	ENST00000273353	T	0.70631	-0.5	5.32	2.36	0.29203	.	.	.	.	.	T	0.37625	0.1010	N	0.02120	-0.675	0.31954	N	0.609252	B	0.06786	0.001	B	0.06405	0.002	T	0.35674	-0.9779	9	0.19147	T	0.46	.	4.4626	0.11673	0.249:0.0:0.5221:0.2289	.	797	Q9Y2K3	MYH15_HUMAN	L	797	ENSP00000273353:F797L	ENSP00000273353:F797L	F	-	3	2	MYH15	109655611	0.108000	0.22018	0.567000	0.28434	0.923000	0.55619	-0.974000	0.03794	0.731000	0.32448	0.655000	0.94253	TTC	MYH15	-	NULL		0.438	MYH15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYH15	HGNC	protein_coding	OTTHUMT00000353935.1	G	XM_036988		108172921	-1	no_errors	ENST00000273353	ensembl	human	known	70_37	missense	SNP	0.998	C
MYH2	4620	genome.wustl.edu	37	17	10432905	10432905	+	Missense_Mutation	SNP	G	G	C			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr17:10432905G>C	ENST00000245503.5	-	24	3477	c.3093C>G	c.(3091-3093)atC>atG	p.I1031M	RP11-799N11.1_ENST00000399342.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA|CTC-297N7.11_ENST00000587182.2_RNA|MYH2_ENST00000532183.2_Intron|MYH2_ENST00000397183.2_Missense_Mutation_p.I1031M	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	1031					Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|membrane organization (GO:0061024)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|plasma membrane repair (GO:0001778)|response to activity (GO:0014823)	A band (GO:0031672)|actomyosin contractile ring (GO:0005826)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|protein complex (GO:0043234)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						GTTCAAGTTTGATTTTAGCTT	0.438																																																	0													223.0	209.0	214.0					17																	10432905		2203	4300	6503	SO:0001583	missense	4620				CCDS11156.1	17p13.1	2014-02-04	2006-09-29		ENSG00000125414	ENSG00000125414		"""Myosins / Myosin superfamily : Class II"""	7572	protein-coding gene	gene with protein product		160740	"""myosin, heavy polypeptide 2, skeletal muscle, adult"", ""inclusion body myopathy 3, autosomal dominant"""	IBM3		7545970, 11889243	Standard	NM_001100112		Approved	MYH2A, MYHSA2, MyHC-IIa, MYHas8, MyHC-2A	uc010coi.3	Q9UKX2	OTTHUMG00000130363	ENST00000245503.5:c.3093C>G	17.37:g.10432905G>C	ENSP00000245503:p.Ile1031Met	Somatic		WXS	Illumina HiSeq	Phase_IV	A0AVL4|Q14322|Q16229|Q567P6|Q86T56	Missense_Mutation	SNP	pfam_Myosin_tail,pfam_Myosin_head_motor_dom,pfam_Myosin_N,superfamily_Prefoldin,superfamily_Ribosomal_L29,superfamily_t-SNARE,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.I1031M	ENST00000245503.5	37	c.3093	CCDS11156.1	17	.	.	.	.	.	.	.	.	.	.	G	9.734	1.162943	0.21538	.	.	ENSG00000125414	ENST00000245503;ENST00000397183	D;D	0.87729	-2.29;-2.29	5.24	5.24	0.73138	.	0.621973	0.12836	U	0.435184	D	0.84800	0.5552	L	0.38175	1.15	0.29231	N	0.873266	B	0.12630	0.006	B	0.23018	0.043	T	0.78001	-0.2375	10	0.62326	D	0.03	.	19.0151	0.92890	0.0:0.0:1.0:0.0	.	1031	Q9UKX2	MYH2_HUMAN	M	1031	ENSP00000245503:I1031M;ENSP00000380367:I1031M	ENSP00000245503:I1031M	I	-	3	3	MYH2	10373630	0.709000	0.27886	0.998000	0.56505	0.405000	0.30901	0.825000	0.27393	2.718000	0.92993	0.591000	0.81541	ATC	MYH2	-	superfamily_Prefoldin		0.438	MYH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYH2	HGNC	protein_coding	OTTHUMT00000252726.3	G	NM_017534		10432905	-1	no_errors	ENST00000245503	ensembl	human	known	70_37	missense	SNP	1.000	C
MYH9	4627	genome.wustl.edu	37	22	36708234	36708234	+	Missense_Mutation	SNP	C	C	T			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr22:36708234C>T	ENST00000216181.5	-	14	1818	c.1588G>A	c.(1588-1590)Gag>Aag	p.E530K		NM_002473.4	NP_002464.1	P35579	MYH9_HUMAN	myosin, heavy chain 9, non-muscle	530	Myosin motor.				actin cytoskeleton reorganization (GO:0031532)|actin filament-based movement (GO:0030048)|actomyosin structure organization (GO:0031032)|angiogenesis (GO:0001525)|ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|blood vessel endothelial cell migration (GO:0043534)|cytokinesis (GO:0000910)|establishment of meiotic spindle localization (GO:0051295)|establishment of T cell polarity (GO:0001768)|in utero embryonic development (GO:0001701)|integrin-mediated signaling pathway (GO:0007229)|leukocyte migration (GO:0050900)|meiotic spindle organization (GO:0000212)|membrane protein ectodomain proteolysis (GO:0006509)|monocyte differentiation (GO:0030224)|myoblast fusion (GO:0007520)|platelet aggregation (GO:0070527)|platelet formation (GO:0030220)|protein transport (GO:0015031)|regulation of cell shape (GO:0008360)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|uropod organization (GO:0032796)	actin cytoskeleton (GO:0015629)|actomyosin (GO:0042641)|actomyosin contractile ring (GO:0005826)|cell leading edge (GO:0031252)|cell-cell adherens junction (GO:0005913)|cleavage furrow (GO:0032154)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|immunological synapse (GO:0001772)|membrane (GO:0016020)|myosin II complex (GO:0016460)|myosin II filament (GO:0097513)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|ruffle (GO:0001726)|spindle (GO:0005819)|stress fiber (GO:0001725)|uropod (GO:0001931)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|motor activity (GO:0003774)|poly(A) RNA binding (GO:0044822)|protein anchor (GO:0043495)|protein homodimerization activity (GO:0042803)	p.E530K(1)		NS(1)|breast(8)|central_nervous_system(3)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(16)|lung(29)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(6)|urinary_tract(3)	86						CAGCACTCCTCGTCCAGCAGG	0.637			T	ALK	ALCL		"""Deafness, autosomal dominant 17, Epstein syndrome, Fechtner syndrome, May-Hegglin anomaly, Sebastian syndrome"""		Hereditary Macrothrombocytopenia, MYH9-associated																															Dom	yes		22	22q13.1	4627	"""myosin, heavy polypeptide 9, non-muscle"""	yes	L	1	Substitution - Missense(1)	prostate(1)											81.0	70.0	73.0					22																	36708234		2203	4300	6503	SO:0001583	missense	4627	Familial Cancer Database	MYHIIA syndrome, incl. Fechtner Syndrome, FTNS, and May-Hegglin Anomaly, MHA		CCDS13927.1	22q13.1	2014-09-17	2006-09-29		ENSG00000100345	ENSG00000100345		"""Myosins / Myosin superfamily : Class II"""	7579	protein-coding gene	gene with protein product	"""nonmuscle myosin heavy chain II-A"""	160775	"""myosin, heavy polypeptide 9, non-muscle"""	DFNA17		1860190, 11023810	Standard	NM_002473		Approved	NMMHCA, NMHC-II-A, MHA, FTNS, EPSTS	uc003apg.3	P35579	OTTHUMG00000030429	ENST00000216181.5:c.1588G>A	22.37:g.36708234C>T	ENSP00000216181:p.Glu530Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K6E4|O60805|Q60FE2|Q86T83	Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_Myosin_tail,pfam_Myosin_N,pfam_IQ_motif_EF-hand-BS,superfamily_Regulat_G_prot_signal_superfam,superfamily_Prefoldin,superfamily_Myosin_S1_N,superfamily_STAT_TF_coiled-coil,superfamily_tRNA-bd_arm,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.E530K	ENST00000216181.5	37	c.1588	CCDS13927.1	22	.	.	.	.	.	.	.	.	.	.	C	35	5.433500	0.96150	.	.	ENSG00000100345	ENST00000337818;ENST00000216181	T	0.80653	-1.4	4.57	4.57	0.56435	Myosin head, motor domain (2);	0.000000	0.85682	D	0.000000	D	0.93930	0.8057	H	0.98559	4.265	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.96569	0.9421	10	0.87932	D	0	.	17.3444	0.87306	0.0:1.0:0.0:0.0	.	530	P35579	MYH9_HUMAN	K	394;530	ENSP00000216181:E530K	ENSP00000216181:E530K	E	-	1	0	MYH9	35038180	1.000000	0.71417	0.995000	0.50966	0.939000	0.58152	7.818000	0.86416	2.258000	0.74832	0.561000	0.74099	GAG	MYH9	-	pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom		0.637	MYH9-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	MYH9	HGNC	protein_coding	OTTHUMT00000259110.3	C	NM_002473		36708234	-1	no_errors	ENST00000216181	ensembl	human	known	70_37	missense	SNP	1.000	T
MYL7	58498	genome.wustl.edu	37	7	44178493	44178494	+	3'UTR	INS	-	-	C	rs369581358		TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr7:44178493_44178494insC	ENST00000223364.3	-	0	580_581				MYL7_ENST00000434895.1_5'UTR|MYL7_ENST00000458240.1_3'UTR	NM_021223.2	NP_067046.1	Q01449	MLRA_HUMAN	myosin, light chain 7, regulatory							A band (GO:0031672)|dendritic spine (GO:0043197)|myosin complex (GO:0016459)	calcium ion binding (GO:0005509)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|prostate(1)|skin(1)	12						TTATTGAGGTGCCCCCCCGTGG	0.564																																																	0										16,4246		0,16,2115						-8.6	0.0			61	9,8241		0,9,4116	no	utr-3	MYL7	NM_021223.2		0,25,6231	A1A1,A1R,RR		0.1091,0.3754,0.1998				25,12487				SO:0001624	3_prime_UTR_variant	58498			M94547	CCDS5478.1	7p21-p11.2	2013-01-10	2006-09-29		ENSG00000106631	ENSG00000106631		"""Myosins / Light chain"", ""EF-hand domain containing"""	21719	protein-coding gene	gene with protein product		613993	"""myosin, light polypeptide 7, regulatory"""			8207020	Standard	NM_021223		Approved	MYLC2A, MYL2A	uc003tkg.3	Q01449	OTTHUMG00000023125	ENST00000223364.3:c.*27->G	7.37:g.44178500_44178500dupC		Somatic		WXS	Illumina HiSeq	Phase_IV	B2R4L3	RNA	INS	-	NULL	ENST00000223364.3	37	NULL	CCDS5478.1	7																																																																																			MYL7	-	-		0.564	MYL7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYL7	HGNC	protein_coding	OTTHUMT00000059446.4	-	NM_021223		44178494	-1	no_errors	ENST00000434895	ensembl	human	known	70_37	rna	INS	0.000:0.000	C
SEPT1	1731	genome.wustl.edu	37	16	30387760	30387760	+	IGR	SNP	G	G	C	rs199748785		TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr16:30387760G>C	ENST00000571393.1	-	0	1589				MYLPF_ENST00000322861.7_Missense_Mutation_p.K63N			Q8WYJ6	SEPT1_HUMAN	septin 1						cell cycle (GO:0007049)|cell division (GO:0051301)	septin complex (GO:0031105)	GTP binding (GO:0005525)			breast(2)|endometrium(1)|large_intestine(3)|lung(15)|ovary(1)|skin(1)|urinary_tract(1)	24			Colorectal(24;0.193)			TCAATGTGAAGAATGAGGAGT	0.592																																																	0													108.0	110.0	110.0					16																	30387760		2197	4300	6497	SO:0001628	intergenic_variant	29895			AF308288	CCDS10678.1, CCDS10678.2, CCDS10678.3	16p11.2	2013-01-21		2001-09-10	ENSG00000180096	ENSG00000180096	3.1.5.1	"""Septins"""	2879	protein-coding gene	gene with protein product		612897		DIFF6		8697812	Standard	NM_052838		Approved	PNUTL3	uc002dxy.4	Q8WYJ6	OTTHUMG00000176984		16.37:g.30387760G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	B4DVE6|Q658T1|Q8NEZ1|Q96EL4|Q9H285	Missense_Mutation	SNP	smart_EF_hand_Ca-bd,pfscan_EF_HAND_2	p.K63N	ENST00000571393.1	37	c.189		16	.	.	.	.	.	.	.	.	.	.	G	13.69	2.311047	0.40895	.	.	ENSG00000180209	ENST00000322861	T	0.78595	-1.19	5.49	0.905	0.19307	EF-hand-like domain (1);	0.045148	0.85682	D	0.000000	T	0.79387	0.4437	L	0.38649	1.16	0.53688	D	0.999973	D	0.63880	0.993	D	0.78314	0.991	T	0.74604	-0.3610	10	0.42905	T	0.14	.	9.8418	0.41004	0.3114:0.0:0.6886:0.0	.	63	Q96A32	MLRS_HUMAN	N	63	ENSP00000325239:K63N	ENSP00000325239:K63N	K	+	3	2	MYLPF	30295261	1.000000	0.71417	0.996000	0.52242	0.974000	0.67602	2.445000	0.44899	-0.035000	0.13691	-0.373000	0.07131	AAG	MYLPF	-	NULL		0.592	SEPT1-201	KNOWN	basic	protein_coding	MYLPF	HGNC	protein_coding		G	NM_052838		30387760	+1	no_errors	ENST00000322861	ensembl	human	known	70_37	missense	SNP	1.000	C
MYO15A	51168	genome.wustl.edu	37	17	18045527	18045527	+	Missense_Mutation	SNP	G	G	C			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr17:18045527G>C	ENST00000205890.5	+	24	6122	c.5784G>C	c.(5782-5784)aaG>aaC	p.K1928N		NM_016239.3	NP_057323.3	Q9UKN7	MYO15_HUMAN	myosin XVA	1928	IQ 2. {ECO:0000255|PROSITE- ProRule:PRU00116}.|Neck or regulatory domain.				inner ear morphogenesis (GO:0042472)|locomotory behavior (GO:0007626)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|stereocilium (GO:0032420)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(5)|central_nervous_system(2)|endometrium(17)|kidney(3)|large_intestine(16)|lung(27)|ovary(3)|pancreas(1)|prostate(6)|skin(13)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	99	all_neural(463;0.228)					TGCGCCACAAGATCATCCTGC	0.587																																																	0													35.0	38.0	37.0					17																	18045527		2153	4271	6424	SO:0001583	missense	51168			AF144094	CCDS42271.1	17p11.2	2011-09-27			ENSG00000091536	ENSG00000091536		"""Myosins / Myosin superfamily : Class XV"""	7594	protein-coding gene	gene with protein product		602666		DFNB3, MYO15		9603736	Standard	NM_016239		Approved		uc021trl.1	Q9UKN7	OTTHUMG00000059390	ENST00000205890.5:c.5784G>C	17.37:g.18045527G>C	ENSP00000205890:p.Lys1928Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	B4DFC7	Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_MyTH4_dom,pfam_SH3_2,pfam_FERM_central,pfam_IQ_motif_EF-hand-BS,superfamily_FERM_central,superfamily_SH3_domain,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,smart_MyTH4_dom,smart_SH3_domain,smart_Band_41_domain,pfscan_FERM_domain,pfscan_IQ_motif_EF-hand-BS,pfscan_MyTH4_dom,prints_Myosin_head_motor_dom	p.K1928N	ENST00000205890.5	37	c.5784	CCDS42271.1	17	.	.	.	.	.	.	.	.	.	.	G	17.85	3.490683	0.64074	.	.	ENSG00000091536	ENST00000205890	T	0.25579	1.79	5.69	4.72	0.59763	.	.	.	.	.	T	0.43523	0.1251	L	0.53729	1.69	0.80722	D	1	D	0.76494	0.999	D	0.72982	0.979	T	0.20706	-1.0267	9	0.36615	T	0.2	.	12.6137	0.56565	0.1383:0.0:0.8617:0.0	.	1928	Q9UKN7	MYO15_HUMAN	N	1928	ENSP00000205890:K1928N	ENSP00000205890:K1928N	K	+	3	2	MYO15A	17986252	1.000000	0.71417	0.999000	0.59377	0.896000	0.52359	4.640000	0.61368	1.420000	0.47138	-0.136000	0.14681	AAG	MYO15A	-	pfam_IQ_motif_EF-hand-BS,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS		0.587	MYO15A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYO15A	HGNC	protein_coding	OTTHUMT00000132048.1	G	NM_016239		18045527	+1	no_errors	ENST00000205890	ensembl	human	known	70_37	missense	SNP	1.000	C
MYO1D	4642	genome.wustl.edu	37	17	31048090	31048090	+	Missense_Mutation	SNP	G	G	A			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr17:31048090G>A	ENST00000318217.5	-	15	2168	c.1864C>T	c.(1864-1866)Cgt>Tgt	p.R622C	MYO1D_ENST00000394649.4_Missense_Mutation_p.R534C|MYO1D_ENST00000579584.1_Missense_Mutation_p.R622C	NM_015194.1	NP_056009.1	O94832	MYO1D_HUMAN	myosin ID	622	Myosin motor.				early endosome to recycling endosome transport (GO:0061502)|negative regulation of phosphatase activity (GO:0010923)	axolemma (GO:0030673)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|smooth endoplasmic reticulum (GO:0005790)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)	p.R622C(1)		breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(14)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39			BRCA - Breast invasive adenocarcinoma(9;0.0362)			CCTGCCCGACGCACTCTCACA	0.468																																																	1	Substitution - Missense(1)	large_intestine(1)											151.0	151.0	151.0					17																	31048090		2203	4300	6503	SO:0001583	missense	4642			AB018270	CCDS32615.1	17q11-q12	2014-06-12				ENSG00000176658		"""Myosins / Myosin superfamily : Class I"""	7598	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 108"""	606539				8884266	Standard	NM_015194		Approved	KIAA0727, myr4, PPP1R108	uc002hho.1	O94832		ENST00000318217.5:c.1864C>T	17.37:g.31048090G>A	ENSP00000324527:p.Arg622Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	A6H8V3|Q8NHP9	Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_Myosin_tail_2,pfam_IQ_motif_EF-hand-BS,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.R622C	ENST00000318217.5	37	c.1864	CCDS32615.1	17	.	.	.	.	.	.	.	.	.	.	G	33	5.260918	0.95368	.	.	ENSG00000176658	ENST00000318217	T	0.73469	-0.75	5.21	5.21	0.72293	Myosin head, motor domain (2);	0.000000	0.36703	U	0.002460	D	0.85362	0.5679	M	0.69823	2.125	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.997	D	0.86569	0.1846	10	0.87932	D	0	.	16.289	0.82738	0.0:0.0:1.0:0.0	.	533;622	Q7Z3N6;O94832	.;MYO1D_HUMAN	C	622	ENSP00000324527:R622C	ENSP00000324527:R622C	R	-	1	0	MYO1D	28072203	1.000000	0.71417	0.999000	0.59377	0.992000	0.81027	6.331000	0.72929	2.716000	0.92895	0.561000	0.74099	CGT	MYO1D	-	pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom		0.468	MYO1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYO1D	HGNC	protein_coding	OTTHUMT00000447457.1	G			31048090	-1	no_errors	ENST00000318217	ensembl	human	known	70_37	missense	SNP	1.000	A
MYO19	80179	genome.wustl.edu	37	17	34870339	34870339	+	Missense_Mutation	SNP	G	G	C			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr17:34870339G>C	ENST00000431794.3	-	9	1192	c.670C>G	c.(670-672)Cga>Gga	p.R224G	MYO19_ENST00000544606.1_Missense_Mutation_p.R90G|MYO19_ENST00000268852.9_Missense_Mutation_p.R224G|MYO19_ENST00000586007.1_Missense_Mutation_p.R224G	NM_001163735.1	NP_001157207.1	Q96H55	MYO19_HUMAN	myosin XIX	224	Myosin motor.					cytoplasm (GO:0005737)|mitochondrial outer membrane (GO:0005741)|myosin complex (GO:0016459)	ATP binding (GO:0005524)|motor activity (GO:0003774)			endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|urinary_tract(1)	20		Breast(25;0.00957)|Ovarian(249;0.17)	Kidney(155;0.104)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)		CAGGCCACTCGAGTTTTCTCT	0.562																																																	0													111.0	113.0	113.0					17																	34870339		1892	4106	5998	SO:0001583	missense	80179			BC008900	CCDS45654.1, CCDS54112.1, CCDS59283.1	17q12	2014-08-12	2007-09-26	2007-09-26	ENSG00000278259	ENSG00000278259		"""Myosins / Myosin superfamily : Class XIX"""	26234	protein-coding gene	gene with protein product			"""myosin head domain containing 1"""	MYOHD1		17877792, 19932026	Standard	NM_001033580		Approved	FLJ22865	uc010wcy.2	Q96H55	OTTHUMG00000188437	ENST00000431794.3:c.670C>G	17.37:g.34870339G>C	ENSP00000409936:p.Arg224Gly	Somatic		WXS	Illumina HiSeq	Phase_IV	Q59GS4|Q9H5X2	Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.R224G	ENST00000431794.3	37	c.670	CCDS54112.1	17	.	.	.	.	.	.	.	.	.	.	G	20.5	4.000574	0.74818	.	.	ENSG00000141140	ENST00000431794;ENST00000268852;ENST00000544606	D;D;D	0.96885	-4.16;-4.16;-4.16	5.71	5.71	0.89125	Myosin head, motor domain (2);	0.000000	0.36444	N	0.002589	D	0.98902	0.9628	H	0.98466	4.24	0.58432	D	0.999997	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;0.999	D	0.99167	1.0863	10	0.87932	D	0	.	14.2154	0.65790	0.0:0.0:0.8501:0.1499	.	90;224;224;224	B4DSL5;Q96H55;Q96H55-2;Q96H55-4	.;MYO19_HUMAN;.;.	G	224;224;90	ENSP00000409936:R224G;ENSP00000268852:R224G;ENSP00000438365:R90G	ENSP00000268852:R224G	R	-	1	2	MYO19	31944452	1.000000	0.71417	0.983000	0.44433	0.984000	0.73092	3.502000	0.53332	2.709000	0.92574	0.655000	0.94253	CGA	MYO19	-	pfam_Myosin_head_motor_dom,smart_Myosin_head_motor_dom		0.562	MYO19-006	KNOWN	basic|appris_principal|CCDS	protein_coding	MYO19	HGNC	protein_coding	OTTHUMT00000451074.1	G	NM_025109		34870339	-1	no_errors	ENST00000431794	ensembl	human	known	70_37	missense	SNP	0.887	C
MYT1	4661	genome.wustl.edu	37	20	62839109	62839109	+	Missense_Mutation	SNP	C	C	T	rs557112974		TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr20:62839109C>T	ENST00000328439.1	+	7	924	c.560C>T	c.(559-561)gCg>gTg	p.A187V	MYT1_ENST00000536311.1_Missense_Mutation_p.A187V|MYT1_ENST00000360149.4_Intron	NM_004535.2	NP_004526.1	Q99640	PMYT1_HUMAN	myelin transcription factor 1	0	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of phosphatase activity (GO:0010923)|regulation of cell cycle (GO:0051726)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of mitosis (GO:0007088)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(12)|liver(1)|lung(17)|ovary(5)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55	all_cancers(38;1.82e-11)|all_epithelial(29;3.3e-13)|Lung NSC(23;5.21e-10)|all_lung(23;1.92e-09)					TTGGGCCAGGCGGCCAAGCCA	0.582																																					GBM(59;481 1041 20555 21139 33705)												0													53.0	53.0	53.0					20																	62839109		2203	4300	6503	SO:0001583	missense	4661			M96980	CCDS13558.1	20q13.33	2014-03-24			ENSG00000196132	ENSG00000196132		"""Zinc fingers, C2HC-type containing"""	7622	protein-coding gene	gene with protein product	"""neural zinc finger transcription factor 2"""	600379		PLPB1		1280325, 9268380	Standard	NM_004535		Approved	MTF1, MYTI, ZC2HC4A, NZF2	uc002yii.3	Q01538	OTTHUMG00000149988	ENST00000328439.1:c.560C>T	20.37:g.62839109C>T	ENSP00000327465:p.Ala187Val	Somatic		WXS	Illumina HiSeq	Phase_IV	B3KUN8|B4DXD4|D3DUA4|F8W164|I3L1V2|O14731|Q7LE24|Q8TCM9	Missense_Mutation	SNP	pfam_Myelin_TF,pfam_Znf_C2HC	p.A187V	ENST00000328439.1	37	c.560	CCDS13558.1	20	.	.	.	.	.	.	.	.	.	.	c	2.228	-0.376801	0.05000	.	.	ENSG00000196132	ENST00000328439;ENST00000536311	T;T	0.44083	0.94;0.93	4.46	-8.93	0.00771	.	1.113020	0.06995	N	0.822212	T	0.09730	0.0239	N	0.00583	-1.355	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.33137	-0.9880	10	0.27785	T	0.31	1.9022	4.8426	0.13498	0.1702:0.2804:0.4556:0.0939	.	187	Q01538	MYT1_HUMAN	V	187	ENSP00000327465:A187V;ENSP00000442412:A187V	ENSP00000327465:A187V	A	+	2	0	MYT1	62309553	0.000000	0.05858	0.000000	0.03702	0.022000	0.10575	-1.554000	0.02172	-2.520000	0.00498	-0.269000	0.10298	GCG	MYT1	-	NULL		0.582	MYT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MYT1	HGNC	protein_coding	OTTHUMT00000080297.1	C	NM_004535		62839109	+1	no_errors	ENST00000536311	ensembl	human	known	70_37	missense	SNP	0.000	T
MYT1L	23040	genome.wustl.edu	37	2	1926366	1926366	+	Missense_Mutation	SNP	C	C	T			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr2:1926366C>T	ENST00000399161.2	-	10	1922	c.1175G>A	c.(1174-1176)cGg>cAg	p.R392Q	MYT1L_ENST00000428368.2_Missense_Mutation_p.R392Q	NM_015025.2	NP_055840.2	Q9UL68	MYT1L_HUMAN	myelin transcription factor 1-like	392					cell differentiation (GO:0030154)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(16)|lung(50)|ovary(5)|prostate(2)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	97	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.037)|all_epithelial(98;0.241)		OV - Ovarian serous cystadenocarcinoma(76;0.169)|all cancers(51;0.244)		CACTCTCGACCGGGGGCTCAA	0.597																																																	0													40.0	42.0	41.0					2																	1926366		2128	4243	6371	SO:0001583	missense	23040			AF036943	CCDS46222.1	2p25.3	2013-01-10			ENSG00000186487	ENSG00000186487		"""Zinc fingers, C2HC-type containing"""	7623	protein-coding gene	gene with protein product	"""neural zinc finger transcription factor 1"""	613084				9373037	Standard	XM_006711862		Approved	KIAA1106, NZF1, ZC2HC4B	uc002qxd.3	Q9UL68	OTTHUMG00000151407	ENST00000399161.2:c.1175G>A	2.37:g.1926366C>T	ENSP00000382114:p.Arg392Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	A7E2C7|B2RP54|Q6IQ17|Q9UPP6	Missense_Mutation	SNP	pfam_Myelin_TF,pfam_Znf_C2HC	p.R392Q	ENST00000399161.2	37	c.1175		2	.	.	.	.	.	.	.	.	.	.	C	14.43	2.534550	0.45073	.	.	ENSG00000186487	ENST00000399161;ENST00000295067;ENST00000428368	T;T	0.46451	0.87;0.87	5.85	5.85	0.93711	.	0.130714	0.51477	D	0.000096	T	0.47783	0.1464	L	0.27053	0.805	0.48696	D	0.999696	D;D	0.76494	0.998;0.999	P;P	0.55667	0.608;0.781	T	0.28586	-1.0039	10	0.35671	T	0.21	-36.1385	20.1542	0.98100	0.0:1.0:0.0:0.0	.	392;392	Q9UL68;Q9UL68-4	MYT1L_HUMAN;.	Q	392;340;392	ENSP00000382114:R392Q;ENSP00000396103:R392Q	ENSP00000295067:R340Q	R	-	2	0	MYT1L	1905373	1.000000	0.71417	0.013000	0.15412	0.011000	0.07611	4.875000	0.63072	2.767000	0.95098	0.563000	0.77884	CGG	MYT1L	-	NULL		0.597	MYT1L-001	KNOWN	basic|appris_candidate_longest	protein_coding	MYT1L	HGNC	protein_coding	OTTHUMT00000322493.1	C	NM_015025		1926366	-1	no_errors	ENST00000399161	ensembl	human	known	70_37	missense	SNP	0.894	T
NADK	65220	genome.wustl.edu	37	1	1693443	1693443	+	Missense_Mutation	SNP	C	C	T			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr1:1693443C>T	ENST00000341426.5	-	3	432	c.211G>A	c.(211-213)Gtg>Atg	p.V71M	NADK_ENST00000341991.3_Missense_Mutation_p.V71M|NADK_ENST00000492768.1_5'UTR|NADK_ENST00000378625.1_Missense_Mutation_p.V71M|NADK_ENST00000344463.4_Missense_Mutation_p.V71M	NM_023018.4	NP_075394.3	O95544	NADK_HUMAN	NAD kinase	71					ATP metabolic process (GO:0046034)|NAD metabolic process (GO:0019674)|NADP biosynthetic process (GO:0006741)|phosphorylation (GO:0016310)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)			NS(1)|autonomic_ganglia(1)|endometrium(4)|large_intestine(2)|lung(4)|ovary(1)|prostate(2)|stomach(1)|urinary_tract(1)	17	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;5.61e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;8.75e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.33e-23)|GBM - Glioblastoma multiforme(42;1.35e-07)|Colorectal(212;0.000203)|COAD - Colon adenocarcinoma(227;0.000225)|Kidney(185;0.00265)|STAD - Stomach adenocarcinoma(132;0.00655)|BRCA - Breast invasive adenocarcinoma(365;0.00855)|KIRC - Kidney renal clear cell carcinoma(229;0.0382)|Lung(427;0.207)		AAAGTGGTCACCGGGCATGGC	0.602																																																	0													92.0	82.0	85.0					1																	1693443		2203	4300	6503	SO:0001583	missense	65220			BC001709	CCDS30565.1, CCDS55561.1, CCDS55562.1	1p36.33	2013-04-29			ENSG00000008130	ENSG00000008130	2.7.1.23		29831	protein-coding gene	gene with protein product		611616				11594753	Standard	NM_023018		Approved	FLJ13052	uc001aie.3	O95544	OTTHUMG00000000942	ENST00000341426.5:c.211G>A	1.37:g.1693443C>T	ENSP00000341679:p.Val71Met	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NNN3|A8K296|B7Z434|F5GXR5|Q5QPS4|Q9H2P2|Q9H931	Missense_Mutation	SNP	pfam_PolyP/ATP_NADK_prd,superfamily_ATP-NAD_kinase_PpnK-typ	p.V71M	ENST00000341426.5	37	c.211	CCDS30565.1	1	.	.	.	.	.	.	.	.	.	.	C	24.9	4.578279	0.86645	.	.	ENSG00000008130	ENST00000341426;ENST00000341991;ENST00000378625;ENST00000344463	T;T;T;T	0.58060	0.7;0.7;0.36;0.36	5.84	4.92	0.64577	.	0.000000	0.85682	D	0.000000	T	0.68320	0.2988	M	0.70595	2.14	0.80722	D	1	D;P	0.64830	0.994;0.638	P;B	0.60609	0.877;0.23	T	0.70342	-0.4898	10	0.45353	T	0.12	-31.3895	15.6396	0.76984	0.0:0.862:0.138:0.0	.	71;71	Q5QPS4;O95544	.;NADK_HUMAN	M	71	ENSP00000341679:V71M;ENSP00000344340:V71M;ENSP00000367890:V71M;ENSP00000340925:V71M	ENSP00000341679:V71M	V	-	1	0	NADK	1683303	1.000000	0.71417	0.961000	0.40146	0.966000	0.64601	5.289000	0.65656	1.455000	0.47813	0.561000	0.74099	GTG	NADK	-	NULL		0.602	NADK-003	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	NADK	HGNC	protein_coding	OTTHUMT00000002769.1	C	NM_023018		1693443	-1	no_errors	ENST00000344463	ensembl	human	known	70_37	missense	SNP	1.000	T
NAV3	89795	genome.wustl.edu	37	12	78569092	78569092	+	Missense_Mutation	SNP	G	G	A	rs368252063		TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr12:78569092G>A	ENST00000397909.2	+	25	5161	c.4988G>A	c.(4987-4989)cGc>cAc	p.R1663H	NAV3_ENST00000228327.6_Missense_Mutation_p.R1663H|NAV3_ENST00000536525.2_Missense_Mutation_p.R1663H|NAV3_ENST00000266692.7_Missense_Mutation_p.R1486H			Q8IVL0	NAV3_HUMAN	neuron navigator 3	1663						membrane (GO:0016020)|nuclear envelope (GO:0005635)				NS(2)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(13)|kidney(16)|large_intestine(39)|liver(2)|lung(126)|ovary(5)|pancreas(3)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(1)	236						CTAGATCTTCGCATCAGAAGA	0.428										HNSCC(70;0.22)			G|||	1	0.000199681	0.0008	0.0	5008	,	,		18142	0.0		0.0	False		,,,				2504	0.0																0								G	HIS/ARG	0,3756		0,0,1878	104.0	96.0	99.0		4988	5.6	1.0	12		99	1,8215		0,1,4107	no	missense	NAV3	NM_014903.4	29	0,1,5985	AA,AG,GG		0.0122,0.0,0.0084	probably-damaging	1663/2364	78569092	1,11971	1878	4108	5986	SO:0001583	missense	89795			AB023155	CCDS41815.1, CCDS66432.1	12q14.3	2008-08-05				ENSG00000067798			15998	protein-coding gene	gene with protein product	"""pore membrane and/or filament interacting like protein 1"", ""steerin 3"""	611629				12079279, 12062803	Standard	XM_005269215		Approved	KIAA0938, POMFIL1	uc001syo.3	Q8IVL0	OTTHUMG00000170001	ENST00000397909.2:c.4988G>A	12.37:g.78569092G>A	ENSP00000381007:p.Arg1663His	Somatic		WXS	Illumina HiSeq	Phase_IV	Q8NFW7|Q9Y2E7	Missense_Mutation	SNP	pfam_CH-domain,pfam_ATPase_AAA_core,superfamily_CH-domain,smart_CH-domain,smart_AAA+_ATPase,pfscan_CH-domain	p.R1663H	ENST00000397909.2	37	c.4988		12	.	.	.	.	.	.	.	.	.	.	G	33	5.287589	0.95517	0.0	1.22E-4	ENSG00000067798	ENST00000536525;ENST00000397909;ENST00000228327;ENST00000266692;ENST00000378640;ENST00000550788	D;D;D;D;D	0.94613	-3.47;-3.47;-3.47;-3.47;-3.47	5.61	5.61	0.85477	.	0.000000	0.37348	U	0.002135	D	0.96999	0.9020	M	0.69358	2.11	0.80722	D	1	D;D;D;D	0.89917	1.0;0.999;1.0;1.0	D;D;D;D	0.87578	0.991;0.994;0.98;0.998	D	0.97031	0.9750	10	0.72032	D	0.01	-14.2634	20.0018	0.97417	0.0:0.0:1.0:0.0	.	1663;1486;1663;1663	E7EUC6;Q8IVL0-3;Q8IVL0;Q8IVL0-2	.;.;NAV3_HUMAN;.	H	1663;1663;1663;1486;284;292	ENSP00000446132:R1663H;ENSP00000381007:R1663H;ENSP00000228327:R1663H;ENSP00000266692:R1486H;ENSP00000448303:R292H	ENSP00000228327:R1663H	R	+	2	0	NAV3	77093223	1.000000	0.71417	1.000000	0.80357	0.934000	0.57294	7.901000	0.87382	2.793000	0.96121	0.655000	0.94253	CGC	NAV3	-	NULL		0.428	NAV3-001	KNOWN	basic	protein_coding	NAV3	HGNC	protein_coding	OTTHUMT00000406812.1	G	NM_001024383		78569092	+1	no_errors	ENST00000397909	ensembl	human	known	70_37	missense	SNP	1.000	A
NBAS	51594	genome.wustl.edu	37	2	15534390	15534390	+	Missense_Mutation	SNP	C	C	T	rs557345395		TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr2:15534390C>T	ENST00000281513.5	-	28	3243	c.3218G>A	c.(3217-3219)cGc>cAc	p.R1073H	NBAS_ENST00000441750.1_Missense_Mutation_p.R953H	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN	neuroblastoma amplified sequence	1073					negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:2000623)|nuclear-transcribed mRNA catabolic process (GO:0000956)	cytoplasm (GO:0005737)|membrane (GO:0016020)				NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						CATCAGCTTGCGTGCCTCTTC	0.338																																																	0													54.0	51.0	52.0					2																	15534390		2203	4297	6500	SO:0001583	missense	51594			BC051792	CCDS1685.1	2p24.3	2009-02-23			ENSG00000151779	ENSG00000151779			15625	protein-coding gene	gene with protein product		608025				9926938, 12706883	Standard	NM_015909		Approved	NAG	uc002rcc.2	A2RRP1	OTTHUMG00000121153	ENST00000281513.5:c.3218G>A	2.37:g.15534390C>T	ENSP00000281513:p.Arg1073His	Somatic		WXS	Illumina HiSeq	Phase_IV	O95790|Q2VPJ7|Q53TK6|Q86V39|Q8NFY8|Q9Y3W5	Missense_Mutation	SNP	pfam_Sec39,superfamily_Quino_amine_DH_bsu	p.R1073H	ENST00000281513.5	37	c.3218	CCDS1685.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.10|12.10	1.836231|1.836231	0.32421|0.32421	.|.	.|.	ENSG00000151779|ENSG00000151779	ENST00000442506|ENST00000441750;ENST00000281513;ENST00000441755	.|T;T;T	.|0.17691	.|2.26;2.26;2.26	5.48|5.48	2.74|2.74	0.32292|0.32292	.|Secretory pathway Sec39 (1);	.|0.097198	.|0.64402	.|N	.|0.000001	T|T	0.09642|0.09642	0.0237|0.0237	L|L	0.27053|0.27053	0.805|0.805	0.38758|0.38758	D|D	0.954268|0.954268	.|P;B	.|0.37141	.|0.584;0.192	.|B;B	.|0.25506	.|0.05;0.061	T|T	0.16364|0.16364	-1.0405|-1.0405	5|10	.|0.87932	.|D	.|0	.|.	9.1299|9.1299	0.36839|0.36839	0.0:0.6998:0.0:0.3002|0.0:0.6998:0.0:0.3002	.|.	.|953;1073	.|A2RRP1-2;A2RRP1	.|.;NBAS_HUMAN	T|H	121|953;1073;120	.|ENSP00000413201:R953H;ENSP00000281513:R1073H;ENSP00000396501:R120H	.|ENSP00000281513:R1073H	A|R	-|-	1|2	0|0	NBAS|NBAS	15451841|15451841	0.914000|0.914000	0.31030|0.31030	0.037000|0.037000	0.18230|0.18230	0.848000|0.848000	0.48234|0.48234	0.684000|0.684000	0.25364|0.25364	0.295000|0.295000	0.22570|0.22570	-0.140000|-0.140000	0.14226|0.14226	GCA|CGC	NBAS	-	pfam_Sec39		0.338	NBAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NBAS	HGNC	protein_coding	OTTHUMT00000241638.1	C	NM_015909		15534390	-1	no_errors	ENST00000281513	ensembl	human	known	70_37	missense	SNP	0.619	T
NBEA	26960	genome.wustl.edu	37	13	36129178	36129178	+	Missense_Mutation	SNP	G	G	T			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr13:36129178G>T	ENST00000400445.3	+	44	7395	c.6861G>T	c.(6859-6861)caG>caT	p.Q2287H	NBEA_ENST00000540320.1_Missense_Mutation_p.Q2287H|NBEA_ENST00000379939.2_Missense_Mutation_p.Q2284H|NBEA_ENST00000310336.4_Missense_Mutation_p.Q2287H|NBEA_ENST00000537702.1_Missense_Mutation_p.Q80H	NM_015678.4	NP_056493.3	Q8NFP9	NBEA_HUMAN	neurobeachin	2287	BEACH. {ECO:0000255|PROSITE- ProRule:PRU00026, ECO:0000305}.				protein localization (GO:0008104)	cytosol (GO:0005829)|endomembrane system (GO:0012505)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)				NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		ATATGACTCAGCGCTGGCAAA	0.338																																																	0													86.0	84.0	85.0					13																	36129178		1854	4092	5946	SO:0001583	missense	26960			AF467288	CCDS45026.1, CCDS55894.1	13q13	2014-09-17			ENSG00000172915	ENSG00000172915		"""A-kinase anchor proteins"", ""WD repeat domain containing"""	7648	protein-coding gene	gene with protein product		604889				10501977	Standard	NM_015678		Approved	KIAA1544, BCL8B, FLJ10197	uc021ric.1	Q8NFP9	OTTHUMG00000016724	ENST00000400445.3:c.6861G>T	13.37:g.36129178G>T	ENSP00000383295:p.Gln2287His	Somatic		WXS	Illumina HiSeq	Phase_IV	B7Z2H9|Q5T320|Q9HCM8|Q9NSU1|Q9NW98|Q9Y6J1	Missense_Mutation	SNP	pfam_BEACH_dom,pfam_DUF1088,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_ConA-like_lec_gl_sf,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat_dom	p.Q2287H	ENST00000400445.3	37	c.6861	CCDS45026.1	13	.	.	.	.	.	.	.	.	.	.	G	18.39	3.613862	0.66672	.	.	ENSG00000172915	ENST00000540320;ENST00000400445;ENST00000379939;ENST00000310336;ENST00000422518;ENST00000543274;ENST00000537702	T;T;T;T;T	0.80824	-1.42;-1.42;-1.42;-1.42;-1.42	4.84	3.98	0.46160	BEACH domain (4);	0.000000	0.85682	D	0.000000	T	0.82038	0.4950	M	0.75085	2.285	0.80722	D	1	P;P	0.49358	0.502;0.923	B;P	0.48400	0.289;0.576	D	0.83606	0.0131	10	0.59425	D	0.04	.	9.763	0.40543	0.1601:0.0:0.8399:0.0	.	2287;2284	Q8NFP9;Q5T321	NBEA_HUMAN;.	H	2287;2287;2284;2287;914;80;80	ENSP00000440951:Q2287H;ENSP00000383295:Q2287H;ENSP00000369271:Q2284H;ENSP00000308534:Q2287H;ENSP00000440233:Q80H	ENSP00000308534:Q2287H	Q	+	3	2	NBEA	35027178	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	2.938000	0.48987	2.222000	0.72286	0.655000	0.94253	CAG	NBEA	-	pfam_BEACH_dom,superfamily_BEACH_dom,pfscan_BEACH_dom		0.338	NBEA-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NBEA	HGNC	protein_coding		G	NM_015678		36129178	+1	no_errors	ENST00000310336	ensembl	human	known	70_37	missense	SNP	1.000	T
NBEA	26960	genome.wustl.edu	37	13	36229092	36229092	+	Silent	SNP	T	T	C			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr13:36229092T>C	ENST00000400445.3	+	53	8607	c.8073T>C	c.(8071-8073)taT>taC	p.Y2691Y	NBEA_ENST00000540320.1_Silent_p.Y2691Y|NBEA_ENST00000379939.2_Silent_p.Y2688Y|NBEA_ENST00000310336.4_Silent_p.Y2691Y|NBEA_ENST00000379922.3_Silent_p.Y269Y|NBEA_ENST00000537702.1_Silent_p.Y484Y	NM_015678.4	NP_056493.3	Q8NFP9	NBEA_HUMAN	neurobeachin	2691					protein localization (GO:0008104)	cytosol (GO:0005829)|endomembrane system (GO:0012505)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)				NS(1)|breast(1)|endometrium(14)|kidney(4)|large_intestine(29)|lung(40)|ovary(9)|prostate(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	108		Breast(139;0.0141)|Lung SC(185;0.0548)|Prostate(109;0.207)		all cancers(112;1.93e-08)|Epithelial(112;1.62e-07)|BRCA - Breast invasive adenocarcinoma(63;0.00033)|OV - Ovarian serous cystadenocarcinoma(117;0.00109)|KIRC - Kidney renal clear cell carcinoma(186;0.00575)|Kidney(163;0.00656)|GBM - Glioblastoma multiforme(144;0.191)|Lung(94;0.199)		ATAATCGCTATATTCTTATCT	0.363																																																	0													92.0	89.0	90.0					13																	36229092		1857	4090	5947	SO:0001819	synonymous_variant	26960			AF467288	CCDS45026.1, CCDS55894.1	13q13	2014-09-17			ENSG00000172915	ENSG00000172915		"""A-kinase anchor proteins"", ""WD repeat domain containing"""	7648	protein-coding gene	gene with protein product		604889				10501977	Standard	NM_015678		Approved	KIAA1544, BCL8B, FLJ10197	uc021ric.1	Q8NFP9	OTTHUMG00000016724	ENST00000400445.3:c.8073T>C	13.37:g.36229092T>C		Somatic		WXS	Illumina HiSeq	Phase_IV	B7Z2H9|Q5T320|Q9HCM8|Q9NSU1|Q9NW98|Q9Y6J1	Silent	SNP	pfam_BEACH_dom,pfam_DUF1088,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_ConA-like_lec_gl_sf,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat_dom	p.Y2691	ENST00000400445.3	37	c.8073	CCDS45026.1	13																																																																																			NBEA	-	superfamily_WD40_repeat_dom,smart_WD40_repeat		0.363	NBEA-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NBEA	HGNC	protein_coding		T	NM_015678		36229092	+1	no_errors	ENST00000310336	ensembl	human	known	70_37	silent	SNP	1.000	C
NBPF3	84224	genome.wustl.edu	37	1	21809763	21809763	+	Missense_Mutation	SNP	T	T	C			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr1:21809763T>C	ENST00000318249.5	+	15	2136	c.1786T>C	c.(1786-1788)Tac>Cac	p.Y596H	NBPF3_ENST00000454000.2_Missense_Mutation_p.Y526H|NBPF3_ENST00000342104.5_Missense_Mutation_p.Y584H|NBPF3_ENST00000318220.6_Missense_Mutation_p.Y540H	NM_032264.3	NP_115640.1	Q9H094	NBPF3_HUMAN	neuroblastoma breakpoint family, member 3	596	NBPF 5. {ECO:0000255|PROSITE- ProRule:PRU00647}.					cytoplasm (GO:0005737)				breast(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	20		all_lung(284;2.16e-05)|Lung NSC(340;2.19e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00432)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0181)|OV - Ovarian serous cystadenocarcinoma(117;7.53e-27)|COAD - Colon adenocarcinoma(152;1.18e-05)|GBM - Glioblastoma multiforme(114;3.47e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000143)|STAD - Stomach adenocarcinoma(196;0.00306)|KIRC - Kidney renal clear cell carcinoma(1967;0.00645)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		AAGTGCCTTTTACTCATTTGA	0.453																																																	0													103.0	60.0	75.0					1																	21809763		2123	4145	6268	SO:0001583	missense	84224			BC024011	CCDS216.1, CCDS57976.1, CCDS57977.1	1p36.12	2013-01-17			ENSG00000142794	ENSG00000142794		"""neuroblastoma breakpoint family"""	25076	protein-coding gene	gene with protein product		612992				11230166, 16079250	Standard	NM_032264		Approved	AE2	uc001ber.4	Q9H094	OTTHUMG00000002944	ENST00000318249.5:c.1786T>C	1.37:g.21809763T>C	ENSP00000316782:p.Tyr596His	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K965|B4DSP2|I3L0I8|Q3BBW1|Q5VTG2|Q5VTG3|Q5VTG4|Q8IX78|Q8ND86|Q8TC96	Missense_Mutation	SNP	pfam_NBPF_dom	p.Y596H	ENST00000318249.5	37	c.1786	CCDS216.1	1	.	.	.	.	.	.	.	.	.	.	.	10.05	1.243130	0.22796	.	.	ENSG00000142794	ENST00000454000;ENST00000318220;ENST00000318249;ENST00000342104;ENST00000434838	T;T;T;T;T	0.08720	3.06;3.06;3.06;3.06;3.06	0.848	0.848	0.18966	DUF1220 (2);	.	.	.	.	T	0.18130	0.0435	M	0.64170	1.965	0.09310	N	1	D;D;D	0.62365	0.989;0.991;0.967	P;D;B	0.65323	0.832;0.934;0.279	T	0.09818	-1.0657	9	0.52906	T	0.07	.	4.0104	0.09619	0.0:0.0:0.0:1.0	.	526;584;596	B4DSP2;Q9H094-3;Q9H094	.;.;NBPF3_HUMAN	H	526;540;596;584;540	ENSP00000415711:Y526H;ENSP00000316739:Y540H;ENSP00000316782:Y596H;ENSP00000340336:Y584H;ENSP00000391865:Y540H	ENSP00000316739:Y540H	Y	+	1	0	NBPF3	21682350	0.017000	0.18338	0.000000	0.03702	0.001000	0.01503	0.088000	0.14979	0.654000	0.30846	0.327000	0.21459	TAC	NBPF3	-	pfam_NBPF_dom		0.453	NBPF3-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NBPF3	HGNC	protein_coding		T	NM_032264		21809763	+1	no_errors	ENST00000318249	ensembl	human	known	70_37	missense	SNP	0.000	C
NCAM1	4684	genome.wustl.edu	37	11	113102431	113102431	+	Missense_Mutation	SNP	T	T	C			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr11:113102431T>C	ENST00000533760.1	+	9	1369	c.770T>C	c.(769-771)aTc>aCc	p.I257T	NCAM1_ENST00000316851.7_Missense_Mutation_p.I375T|NCAM1_ENST00000397957.4_3'UTR|NCAM1_ENST00000401611.2_Missense_Mutation_p.I384T	NM_001242608.1	NP_001229537.1	P13591	NCAM1_HUMAN	neural cell adhesion molecule 1	385	Ig-like C2-type 3.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cytokine-mediated signaling pathway (GO:0019221)|extracellular matrix organization (GO:0030198)|interferon-gamma-mediated signaling pathway (GO:0060333)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)			breast(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(27)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	49		all_cancers(61;5.82e-19)|all_epithelial(67;6.87e-12)|Melanoma(852;1.99e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;0.00119)|Breast(348;0.0109)|all_neural(223;0.0299)|Medulloblastoma(222;0.0458)|Renal(330;0.198)|Prostate(24;0.207)		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.000114)|all cancers(92;0.000467)|OV - Ovarian serous cystadenocarcinoma(223;0.212)		CTGAAGAGCATCCAGTACACT	0.582																																																	0													79.0	83.0	82.0					11																	113102431		2174	4280	6454	SO:0001583	missense	4684				CCDS73384.1, CCDS73385.1, CCDS73386.1, CCDS73387.1, CCDS73388.1	11q23.2	2013-02-11			ENSG00000149294	ENSG00000149294		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7656	protein-coding gene	gene with protein product		116930					Standard	NM_000615		Approved	NCAM, CD56	uc021qqp.1	P13591	OTTHUMG00000167196	ENST00000533760.1:c.770T>C	11.37:g.113102431T>C	ENSP00000473281:p.Ile257Thr	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K8T8|P13592|P13593|Q05C58|Q15829|Q16180|Q16209|Q59FL7|Q86X47|Q96CJ3	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like,prints_Neural_cell_adh	p.I375T	ENST00000533760.1	37	c.1124		11	.	.	.	.	.	.	.	.	.	.	T	18.85	3.712183	0.68730	.	.	ENSG00000149294	ENST00000531044;ENST00000401611;ENST00000316851	T;T	0.70164	-0.46;-0.46	4.71	4.71	0.59529	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.145674	0.46442	U	0.000282	T	0.65544	0.2701	.	.	.	0.80722	D	1	P;P;P;P	0.43094	0.692;0.799;0.536;0.551	B;B;B;B	0.42738	0.364;0.364;0.396;0.364	T	0.71434	-0.4594	9	0.72032	D	0.01	-38.685	14.6379	0.68702	0.0:0.0:0.0:1.0	.	385;375;385;375	P13591-5;P13591-1;P13591;P13591-3	.;.;NCAM1_HUMAN;.	T	257;384;375	ENSP00000384055:I384T;ENSP00000318472:I375T	ENSP00000318472:I375T	I	+	2	0	NCAM1	112607641	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.796000	0.85898	2.110000	0.64415	0.402000	0.26972	ATC	NCAM1	-	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like		0.582	NCAM1-003	NOVEL	basic|appris_principal	protein_coding	NCAM1	HGNC	protein_coding	OTTHUMT00000394068.2	T	NM_000615		113102431	+1	no_errors	ENST00000316851	ensembl	human	known	70_37	missense	SNP	1.000	C
NCBP1	4686	genome.wustl.edu	37	9	100407993	100407993	+	Missense_Mutation	SNP	C	C	T			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr9:100407993C>T	ENST00000375147.3	+	6	846	c.590C>T	c.(589-591)gCc>gTc	p.A197V		NM_002486.4	NP_002477.1	Q09161	NCBP1_HUMAN	nuclear cap binding protein subunit 1, 80kDa	197	MIF4G.				7-methylguanosine mRNA capping (GO:0006370)|gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|histone mRNA metabolic process (GO:0008334)|mRNA 3'-end processing (GO:0031124)|mRNA cis splicing, via spliceosome (GO:0045292)|mRNA cleavage (GO:0006379)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|mRNA splicing, via spliceosome (GO:0000398)|ncRNA metabolic process (GO:0034660)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|positive regulation of mRNA 3'-end processing (GO:0031442)|positive regulation of viral transcription (GO:0050434)|regulation of translational initiation (GO:0006446)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|spliceosomal snRNP assembly (GO:0000387)|termination of RNA polymerase II transcription (GO:0006369)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|mRNA cap binding complex (GO:0005845)|nuclear cap binding complex (GO:0005846)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|RNA cap binding (GO:0000339)			NS(1)|central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(4)	19		Acute lymphoblastic leukemia(62;0.158)				CGCATCTTTGCCAACACTGAA	0.413																																					Ovarian(36;879 898 2893 44212 50307)												0													124.0	116.0	118.0					9																	100407993		2203	4300	6503	SO:0001583	missense	4686			BC001450	CCDS6728.1	9q34.1	2010-01-26	2002-08-29		ENSG00000136937	ENSG00000136937			7658	protein-coding gene	gene with protein product		600469	"""nuclear cap binding protein subunit 1, 80kD"""	NCBP		7937105, 8812508	Standard	NM_002486		Approved	CBP80, Sto1	uc004axq.3	Q09161	OTTHUMG00000020332	ENST00000375147.3:c.590C>T	9.37:g.100407993C>T	ENSP00000364289:p.Ala197Val	Somatic		WXS	Illumina HiSeq	Phase_IV	B2R718|Q59G76|Q5T1V0|Q5T7X2	Missense_Mutation	SNP	pfam_MIF4G-like_typ-2,pfam_MIF4G-like_typ-1,pfam_MIF4G-like_typ-3,superfamily_ARM-type_fold,smart_MIF4G-like_typ-3	p.A197V	ENST00000375147.3	37	c.590	CCDS6728.1	9	.	.	.	.	.	.	.	.	.	.	C	16.10	3.026138	0.54683	.	.	ENSG00000136937	ENST00000375147	T	0.22336	1.96	5.5	5.5	0.81552	MIF4G-like, type 3 (2);Armadillo-type fold (1);MIF4-like, type 1/2/3 (1);	0.282494	0.41097	D	0.000943	T	0.10121	0.0248	N	0.01464	-0.85	0.80722	D	1	B	0.06786	0.001	B	0.09377	0.004	T	0.29336	-1.0015	10	0.28530	T	0.3	-2.3089	19.3811	0.94536	0.0:1.0:0.0:0.0	.	197	Q09161	NCBP1_HUMAN	V	197	ENSP00000364289:A197V	ENSP00000364289:A197V	A	+	2	0	NCBP1	99447814	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.883000	0.56168	2.775000	0.95449	0.650000	0.86243	GCC	NCBP1	-	pfam_MIF4G-like_typ-3,superfamily_ARM-type_fold,smart_MIF4G-like_typ-3		0.413	NCBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NCBP1	HGNC	protein_coding	OTTHUMT00000053337.1	C	NM_002486		100407993	+1	no_errors	ENST00000375147	ensembl	human	known	70_37	missense	SNP	1.000	T
NCBP1	4686	genome.wustl.edu	37	9	100423313	100423313	+	Silent	SNP	G	G	A			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr9:100423313G>A	ENST00000375147.3	+	16	1819	c.1563G>A	c.(1561-1563)ctG>ctA	p.L521L		NM_002486.4	NP_002477.1	Q09161	NCBP1_HUMAN	nuclear cap binding protein subunit 1, 80kDa	521					7-methylguanosine mRNA capping (GO:0006370)|gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|histone mRNA metabolic process (GO:0008334)|mRNA 3'-end processing (GO:0031124)|mRNA cis splicing, via spliceosome (GO:0045292)|mRNA cleavage (GO:0006379)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|mRNA splicing, via spliceosome (GO:0000398)|ncRNA metabolic process (GO:0034660)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|positive regulation of mRNA 3'-end processing (GO:0031442)|positive regulation of viral transcription (GO:0050434)|regulation of translational initiation (GO:0006446)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|spliceosomal snRNP assembly (GO:0000387)|termination of RNA polymerase II transcription (GO:0006369)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|mRNA cap binding complex (GO:0005845)|nuclear cap binding complex (GO:0005846)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ribonucleoprotein complex (GO:0030529)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|RNA cap binding (GO:0000339)			NS(1)|central_nervous_system(3)|endometrium(2)|kidney(2)|large_intestine(7)|lung(4)	19		Acute lymphoblastic leukemia(62;0.158)				TCAGCATTCTGAAAGATGTAC	0.378																																					Ovarian(36;879 898 2893 44212 50307)												0													154.0	146.0	149.0					9																	100423313		2203	4300	6503	SO:0001819	synonymous_variant	4686			BC001450	CCDS6728.1	9q34.1	2010-01-26	2002-08-29		ENSG00000136937	ENSG00000136937			7658	protein-coding gene	gene with protein product		600469	"""nuclear cap binding protein subunit 1, 80kD"""	NCBP		7937105, 8812508	Standard	NM_002486		Approved	CBP80, Sto1	uc004axq.3	Q09161	OTTHUMG00000020332	ENST00000375147.3:c.1563G>A	9.37:g.100423313G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	B2R718|Q59G76|Q5T1V0|Q5T7X2	Silent	SNP	pfam_MIF4G-like_typ-2,pfam_MIF4G-like_typ-1,pfam_MIF4G-like_typ-3,superfamily_ARM-type_fold,smart_MIF4G-like_typ-3	p.L521	ENST00000375147.3	37	c.1563	CCDS6728.1	9																																																																																			NCBP1	-	pfam_MIF4G-like_typ-2,superfamily_ARM-type_fold		0.378	NCBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NCBP1	HGNC	protein_coding	OTTHUMT00000053337.1	G	NM_002486		100423313	+1	no_errors	ENST00000375147	ensembl	human	known	70_37	silent	SNP	1.000	A
NCOR1	9611	genome.wustl.edu	37	17	15976879	15976879	+	Missense_Mutation	SNP	A	A	C			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr17:15976879A>C	ENST00000268712.3	-	28	3932	c.3675T>G	c.(3673-3675)atT>atG	p.I1225M	NCOR1_ENST00000395857.3_Intron|NCOR1_ENST00000395851.1_Missense_Mutation_p.I1241M	NM_006311.3	NP_006302.2	O75376	NCOR1_HUMAN	nuclear receptor corepressor 1	1225	Interaction with ETO.				CD4-positive, CD25-positive, alpha-beta regulatory T cell differentiation (GO:0002361)|cellular lipid metabolic process (GO:0044255)|cholesterol homeostasis (GO:0042632)|chromatin modification (GO:0016568)|circadian regulation of gene expression (GO:0032922)|definitive erythrocyte differentiation (GO:0060318)|gene expression (GO:0010467)|negative regulation of JNK cascade (GO:0046329)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|positive regulation of histone deacetylation (GO:0031065)|regulation of fatty acid transport (GO:2000191)|regulation of glycolytic process by negative regulation of transcription from RNA polymerase II promoter (GO:0072362)|regulation of lipid transport by negative regulation of transcription from RNA polymerase II promoter (GO:0072368)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|spindle assembly (GO:0051225)|thalamus development (GO:0021794)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)|transcription factor complex (GO:0005667)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|histone deacetylase binding (GO:0042826)|histone deacetylase regulator activity (GO:0035033)|nuclear hormone receptor binding (GO:0035257)|RNA polymerase II activating transcription factor binding (GO:0001102)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)			NS(2)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(26)|ovary(1)|prostate(7)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(10)	107				UCEC - Uterine corpus endometrioid carcinoma (92;0.101)		GGGCATTCTTAATATCTACAG	0.358																																																	0													81.0	72.0	75.0					17																	15976879		2203	4300	6503	SO:0001583	missense	9611			AF044209	CCDS11175.1, CCDS54094.1, CCDS54095.1	17p11.2	2014-06-12	2010-06-10		ENSG00000141027	ENSG00000141027			7672	protein-coding gene	gene with protein product	"""thyroid hormone- and retinoic acid receptor-associated corepressor 1"", ""protein phosphatase 1, regulatory subunit 109"""	600849	"""nuclear receptor co-repressor 1"""			7566114, 9724795	Standard	NM_006311		Approved	N-CoR, hCIT529I10, TRAC1, hN-CoR, KIAA1047, MGC104216, PPP1R109	uc002gpo.3	O75376	OTTHUMG00000059309	ENST00000268712.3:c.3675T>G	17.37:g.15976879A>C	ENSP00000268712:p.Ile1225Met	Somatic		WXS	Illumina HiSeq	Phase_IV	B3DLF8|E9PGV6|Q86YY0|Q9UPV5|Q9UQ18	Missense_Mutation	SNP	pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom	p.I1225M	ENST00000268712.3	37	c.3675	CCDS11175.1	17	.	.	.	.	.	.	.	.	.	.	A	11.23	1.576001	0.28092	.	.	ENSG00000141027	ENST00000268712;ENST00000395851;ENST00000395849	D;D	0.82711	-1.64;-1.64	5.91	2.39	0.29439	.	0.000000	0.85682	D	0.000000	D	0.82829	0.5122	L	0.32530	0.975	0.80722	D	1	D;D;B;B	0.76494	0.999;0.998;0.264;0.383	D;D;B;B	0.83275	0.996;0.991;0.03;0.066	T	0.79453	-0.1797	10	0.51188	T	0.08	-11.2866	5.191	0.15209	0.6439:0.1404:0.2156:0.0	.	36;1132;1225;1241	B4DZ48;E7EVK1;O75376;O75376-2	.;.;NCOR1_HUMAN;.	M	1225;1241;1132	ENSP00000268712:I1225M;ENSP00000379192:I1241M	ENSP00000268712:I1225M	I	-	3	3	NCOR1	15917604	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	1.031000	0.30165	0.504000	0.28082	0.533000	0.62120	ATT	NCOR1	-	NULL		0.358	NCOR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NCOR1	HGNC	protein_coding	OTTHUMT00000131751.5	A	NM_006311		15976879	-1	no_errors	ENST00000268712	ensembl	human	known	70_37	missense	SNP	1.000	C
NCOR2	9612	genome.wustl.edu	37	12	124832779	124832779	+	Missense_Mutation	SNP	C	C	T			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr12:124832779C>T	ENST00000405201.1	-	29	3926	c.3926G>A	c.(3925-3927)cGc>cAc	p.R1309H	NCOR2_ENST00000397355.1_Missense_Mutation_p.R1300H|NCOR2_ENST00000356219.3_Missense_Mutation_p.R1316H|NCOR2_ENST00000404121.2_Missense_Mutation_p.R870H|NCOR2_ENST00000404621.1_Missense_Mutation_p.R1299H|NCOR2_ENST00000429285.2_Missense_Mutation_p.R1299H			Q9Y618	NCOR2_HUMAN	nuclear receptor corepressor 2	1317					cellular lipid metabolic process (GO:0044255)|gene expression (GO:0010467)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|regulation of cellular ketone metabolic process by negative regulation of transcription from RNA polymerase II promoter (GO:0072365)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	membrane (GO:0016020)|nuclear body (GO:0016604)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone deacetylase binding (GO:0042826)|Notch binding (GO:0005112)|protein N-terminus binding (GO:0047485)|transcription corepressor activity (GO:0003714)			breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		GTCATAGGTGCGCTTGGGGGC	0.622											OREG0022238	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													40.0	47.0	45.0					12																	124832779		2034	4161	6195	SO:0001583	missense	9612			U37146	CCDS41857.1, CCDS41858.1, CCDS41857.2, CCDS41858.2, CCDS55892.1	12q24	2010-06-10	2010-06-10		ENSG00000196498	ENSG00000196498			7673	protein-coding gene	gene with protein product		600848	"""nuclear receptor co-repressor 2"""			7566127, 8813722	Standard	NM_001077261		Approved	SMRT, SMRTE, TRAC-1, CTG26, TNRC14	uc010tbb.2	Q9Y618	OTTHUMG00000150455	ENST00000405201.1:c.3926G>A	12.37:g.124832779C>T	ENSP00000384018:p.Arg1309His	Somatic	1537	WXS	Illumina HiSeq	Phase_IV	O00613|O15416|O15421|Q13354|Q56D06|Q59GM0|Q9Y5U0	Missense_Mutation	SNP	pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom	p.R1316H	ENST00000405201.1	37	c.3947	CCDS41858.2	12	.	.	.	.	.	.	.	.	.	.	C	18.43	3.621665	0.66787	.	.	ENSG00000196498	ENST00000405201;ENST00000404621;ENST00000356219;ENST00000397355;ENST00000447011;ENST00000404121;ENST00000429285;ENST00000458234	T;T;T;T;T;T;T	0.60040	0.45;0.45;0.45;0.45;0.45;0.45;0.22	5.01	5.01	0.66863	.	0.000000	0.85682	D	0.000000	T	0.74696	0.3750	M	0.62723	1.935	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.997;0.991;0.996	T	0.77851	-0.2434	10	0.87932	D	0	-28.9983	18.3091	0.90193	0.0:1.0:0.0:0.0	.	1299;1300;1309	C9J0Q5;C9J239;C9JFD3	.;.;.	H	1309;1299;1316;1300;1308;870;1299;1317	ENSP00000384018:R1309H;ENSP00000384202:R1299H;ENSP00000348551:R1316H;ENSP00000380513:R1300H;ENSP00000385618:R870H;ENSP00000400281:R1299H;ENSP00000402808:R1317H	ENSP00000348551:R1316H	R	-	2	0	NCOR2	123398732	1.000000	0.71417	1.000000	0.80357	0.597000	0.36814	6.764000	0.74960	2.318000	0.78349	0.561000	0.74099	CGC	NCOR2	-	NULL		0.622	NCOR2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	NCOR2	HGNC	protein_coding	OTTHUMT00000318173.2	C	NM_006312		124832779	-1	no_errors	ENST00000356219	ensembl	human	known	70_37	missense	SNP	1.000	T
NDUFS2	4720	genome.wustl.edu	37	1	161183875	161183875	+	Intron	DEL	T	T	-			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr1:161183875delT	ENST00000367993.3	+	15	1802				FCER1G_ENST00000289902.1_5'Flank|NDUFS2_ENST00000392179.4_3'UTR|FCER1G_ENST00000367992.3_5'Flank|NDUFS2_ENST00000465923.1_3'UTR	NM_004550.4	NP_004541.1	O75306	NDUS2_HUMAN	NADH dehydrogenase (ubiquinone) Fe-S protein 2, 49kDa (NADH-coenzyme Q reductase)						cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	4 iron, 4 sulfur cluster binding (GO:0051539)|electron carrier activity (GO:0009055)|metal ion binding (GO:0046872)|NAD binding (GO:0051287)|NADH dehydrogenase (ubiquinone) activity (GO:0008137)|quinone binding (GO:0048038)			breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(8)|prostate(1)|skin(1)	18	all_cancers(52;1.16e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		Doxorubicin(DB00997)	GTAACACCACTTTTTTTGTTT	0.433																																																	0													99.0	83.0	88.0					1																	161183875		692	1591	2283	SO:0001627	intron_variant	4720			BC008868	CCDS1224.1, CCDS53404.1	1q23.3	2011-07-04	2002-08-29		ENSG00000158864	ENSG00000158864	1.6.5.3	"""Mitochondrial respiratory chain complex / Complex I"""	7708	protein-coding gene	gene with protein product	"""complex I 49kDa subunit"", ""NADH dehydrogenase [ubiquinone] iron-sulfur protein 2, mitochondrial"""	602985	"""NADH dehydrogenase (ubiquinone) Fe-S protein 2 (49kD) (NADH-coenzyme Q reductase)"""			1832859, 9585441	Standard	NM_004550		Approved	CI-49	uc001fyw.3	O75306	OTTHUMG00000034344	ENST00000367993.3:c.1355-71T>-	1.37:g.161183875delT		Somatic		WXS	Illumina HiSeq	Phase_IV	D3DVG7|J3KPM7|Q5VTW0|Q969P3|Q9UEV3	RNA	DEL	-	NULL	ENST00000367993.3	37	NULL	CCDS1224.1	1																																																																																			NDUFS2	-	-		0.433	NDUFS2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NDUFS2	HGNC	protein_coding	OTTHUMT00000083015.1	T	NM_004550		161183875	+1	no_errors	ENST00000465923	ensembl	human	known	70_37	rna	DEL	0.012	-
NEBL	10529	genome.wustl.edu	37	10	21115385	21115385	+	Silent	SNP	A	A	G			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr10:21115385A>G	ENST00000377122.4	-	18	2256	c.1860T>C	c.(1858-1860)aaT>aaC	p.N620N	NEBL_ENST00000417816.2_Intron|NEBL_ENST00000377159.4_Intron	NM_006393.2	NP_006384.1	O76041	NEBL_HUMAN	nebulette	620					cardiac muscle thin filament assembly (GO:0071691)	extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|cytoskeletal protein binding (GO:0008092)|filamin binding (GO:0031005)|structural constituent of muscle (GO:0008307)|tropomyosin binding (GO:0005523)			NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(8)|stomach(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						CTGAACTAATATTCTGCTGAT	0.328																																																	0													150.0	165.0	160.0					10																	21115385		2203	4300	6503	SO:0001819	synonymous_variant	10529			Y16241	CCDS7133.1, CCDS7134.1	10p12	2014-09-17			ENSG00000078114	ENSG00000078114			16932	protein-coding gene	gene with protein product		605491				9733644, 10470015	Standard	NM_213569		Approved		uc001iqi.3	O76041	OTTHUMG00000017788	ENST00000377122.4:c.1860T>C	10.37:g.21115385A>G		Somatic		WXS	Illumina HiSeq	Phase_IV	B0YJ45|Q2TBD0|Q70I54|Q9UIC4	Silent	SNP	pfam_Nebulin_35r-motif,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_Nebulin_35r-motif,smart_SH3_domain,pfscan_Nebulin_35r-motif,pfscan_SH3_domain,prints_SH3_domain	p.N620	ENST00000377122.4	37	c.1860	CCDS7134.1	10																																																																																			NEBL	-	pfam_Nebulin_35r-motif,smart_Nebulin_35r-motif,pfscan_Nebulin_35r-motif		0.328	NEBL-004	KNOWN	basic|CCDS	protein_coding	NEBL	HGNC	protein_coding	OTTHUMT00000047113.1	A	NM_006393		21115385	-1	no_errors	ENST00000377122	ensembl	human	known	70_37	silent	SNP	1.000	G
NECAB1	64168	genome.wustl.edu	37	8	91962037	91962037	+	Missense_Mutation	SNP	T	T	G			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr8:91962037T>G	ENST00000417640.2	+	11	1200	c.863T>G	c.(862-864)aTt>aGt	p.I288S	NECAB1_ENST00000521366.1_Missense_Mutation_p.I37S|NECAB1_ENST00000522820.1_Missense_Mutation_p.I37S	NM_022351.4	NP_071746.1	Q8N987	NECA1_HUMAN	N-terminal EF-hand calcium binding protein 1	288	ABM.					cytoplasm (GO:0005737)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(7)	12			BRCA - Breast invasive adenocarcinoma(11;0.0499)			CATTTCAGTATTTCTATACAG	0.323																																																	0													113.0	99.0	103.0					8																	91962037		1801	4079	5880	SO:0001583	missense	64168			AF414126	CCDS47889.1	8q21.3	2013-01-10	2007-12-06	2007-12-06	ENSG00000123119	ENSG00000123119		"""N-terminal EF-hand calcium binding proteins"", ""EF-hand domain containing"""	20983	protein-coding gene	gene with protein product			"""EF-hand calcium binding protein 1"""	EFCBP1			Standard	NM_022351		Approved		uc011lgg.2	Q8N987	OTTHUMG00000164009	ENST00000417640.2:c.863T>G	8.37:g.91962037T>G	ENSP00000387380:p.Ile288Ser	Somatic		WXS	Illumina HiSeq	Phase_IV	Q6NUS7|Q96AZ7|Q9HBW8	Missense_Mutation	SNP	pfam_Antibiotic_mOase,superfamily_Dimeric_a/b-barrel,smart_EF_hand_Ca-bd,pfscan_EF_HAND_2	p.I288S	ENST00000417640.2	37	c.863	CCDS47889.1	8	.	.	.	.	.	.	.	.	.	.	T	22.4	4.282760	0.80692	.	.	ENSG00000123119	ENST00000417640;ENST00000522820;ENST00000521366	T;T;T	0.29917	1.55;1.55;1.55	5.72	5.72	0.89469	Dimeric alpha-beta barrel (1);Antibiotic biosynthesis monooxygenase (1);	0.183697	0.48767	D	0.000161	T	0.35508	0.0934	L	0.42245	1.32	0.47949	D	0.999553	P	0.36354	0.549	B	0.42798	0.398	T	0.18116	-1.0347	10	0.87932	D	0	-5.3516	14.9892	0.71374	0.0:0.0:0.0:1.0	.	288	Q8N987	NECA1_HUMAN	S	288;37;37	ENSP00000387380:I288S;ENSP00000428953:I37S;ENSP00000428632:I37S	ENSP00000387380:I288S	I	+	2	0	NECAB1	92031213	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	6.500000	0.73687	2.195000	0.70347	0.533000	0.62120	ATT	NECAB1	-	pfam_Antibiotic_mOase,superfamily_Dimeric_a/b-barrel		0.323	NECAB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NECAB1	HGNC	protein_coding	OTTHUMT00000376728.1	T	NM_022351		91962037	+1	no_errors	ENST00000417640	ensembl	human	known	70_37	missense	SNP	1.000	G
NEDD9	4739	genome.wustl.edu	37	6	11213753	11213753	+	Missense_Mutation	SNP	G	G	A			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr6:11213753G>A	ENST00000379446.5	-	2	386	c.220C>T	c.(220-222)Cac>Tac	p.H74Y	NEDD9_ENST00000504387.1_Missense_Mutation_p.H74Y|NEDD9_ENST00000379433.5_Missense_Mutation_p.H74Y|RP3-510L9.1_ENST00000500636.2_RNA	NM_001271033.1|NM_006403.3	NP_001257962.1|NP_006394.1	Q14511	CASL_HUMAN	neural precursor cell expressed, developmentally down-regulated 9	74					actin filament bundle assembly (GO:0051017)|cell adhesion (GO:0007155)|cytoskeleton organization (GO:0007010)|integrin-mediated signaling pathway (GO:0007229)|mitotic nuclear division (GO:0007067)|regulation of growth (GO:0040008)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|spindle (GO:0005819)|spindle pole (GO:0000922)				endometrium(3)|kidney(2)|large_intestine(8)|liver(1)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	Breast(50;0.0768)|Ovarian(93;0.152)	all_hematologic(90;0.135)	Epithelial(50;0.0647)|all cancers(50;0.179)			GGCTGCTCGTGACTGGAGGCA	0.577																																																	0													119.0	112.0	114.0					6																	11213753		2203	4300	6503	SO:0001583	missense	4739			L43821	CCDS4520.1, CCDS34340.1, CCDS47373.1, CCDS75400.1	6p25-p24	2011-04-13			ENSG00000111859	ENSG00000111859		"""Cas scaffolding proteins"""	7733	protein-coding gene	gene with protein product	"""Cas scaffolding protein family member 2"", ""Cas-like"""	602265					Standard	NM_182966		Approved	HEF1, CAS-L, CASS2	uc003mzv.2	Q14511	OTTHUMG00000014255	ENST00000379446.5:c.220C>T	6.37:g.11213753G>A	ENSP00000368759:p.His74Tyr	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K9G7|A8MSJ9|G5E9Y9|Q5T9R4|Q5XKI0	Missense_Mutation	SNP	pfam_CAS_DUF3513,pfam_Serine_rich,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_SH3_domain,pfscan_SH3_domain	p.H74Y	ENST00000379446.5	37	c.220	CCDS4520.1	6	.	.	.	.	.	.	.	.	.	.	G	3.786	-0.044663	0.07452	.	.	ENSG00000111859	ENST00000379446;ENST00000504387;ENST00000379433	T;T;T	0.21734	1.99;1.99;1.99	5.95	5.95	0.96441	Src homology-3 domain (1);	0.284609	0.40728	N	0.001036	T	0.06735	0.0172	L	0.40543	1.245	0.36269	D	0.85505	B;P;B	0.44521	0.059;0.837;0.13	B;B;B	0.32022	0.017;0.139;0.036	T	0.10800	-1.0614	10	0.02654	T	1	-8.2959	20.3931	0.98965	0.0:0.0:1.0:0.0	.	74;74;74	G5E9Y9;Q5XKI0;Q14511	.;.;CASL_HUMAN	Y	74	ENSP00000368759:H74Y;ENSP00000422871:H74Y;ENSP00000368745:H74Y	ENSP00000368745:H74Y	H	-	1	0	NEDD9	11321739	1.000000	0.71417	0.234000	0.24042	0.026000	0.11368	9.441000	0.97557	2.824000	0.97209	0.655000	0.94253	CAC	NEDD9	-	superfamily_SH3_domain		0.577	NEDD9-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NEDD9	HGNC	protein_coding	OTTHUMT00000039853.2	G	NM_006403		11213753	-1	no_errors	ENST00000379446	ensembl	human	known	70_37	missense	SNP	0.882	A
NEIL1	79661	genome.wustl.edu	37	15	75644551	75644551	+	Silent	SNP	G	G	A			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr15:75644551G>A	ENST00000564784.1	+	4	1163	c.534G>A	c.(532-534)ctG>ctA	p.L178L	MIR631_ENST00000384904.1_RNA|NEIL1_ENST00000569035.1_Silent_p.L178L|NEIL1_ENST00000567959.1_Intron|RP11-817O13.6_ENST00000563660.1_lincRNA|NEIL1_ENST00000355059.4_Silent_p.L178L			Q96FI4	NEIL1_HUMAN	nei endonuclease VIII-like 1 (E. coli)	178					base-excision repair (GO:0006284)|negative regulation of nuclease activity (GO:0032074)|nucleotide-excision repair (GO:0006289)|response to oxidative stress (GO:0006979)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	damaged DNA binding (GO:0003684)|DNA N-glycosylase activity (GO:0019104)|DNA-(apurinic or apyrimidinic site) lyase activity (GO:0003906)|hydrolase activity, acting on glycosyl bonds (GO:0016798)|protein C-terminus binding (GO:0008022)|zinc ion binding (GO:0008270)			breast(2)|endometrium(2)|large_intestine(4)|lung(4)|ovary(1)	13						GCAACTATCTGCGGGCAGAGA	0.597								Base excision repair (BER), DNA glycosylases																																									0													88.0	80.0	83.0					15																	75644551		2197	4294	6491	SO:0001819	synonymous_variant	79661			AK026055	CCDS10278.1	15q33.33	2008-07-18			ENSG00000140398	ENSG00000140398			18448	protein-coding gene	gene with protein product		608844				11904416	Standard	NM_024608		Approved	FLJ22402, hFPG1, NEI1, FPG1	uc002bae.4	Q96FI4	OTTHUMG00000142821	ENST00000564784.1:c.534G>A	15.37:g.75644551G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	D3DW75|Q6ZRA7|Q86XW7|Q9H6C3	Silent	SNP	pfam_Endonuclease-VIII_DNA-bd,pfam_DNA_glycosylase/AP_lyase_cat,pfam_DNA_glyclase/AP_lyase_DNA-bd,superfamily_DNA_glycosylase/AP_lyase_cat,superfamily_Ribosomal_S13-like_H2TH,smart_DNA_glycosylase/AP_lyase_cat,pfscan_DNA_glycosylase/AP_lyase_cat	p.L178	ENST00000564784.1	37	c.534	CCDS10278.1	15																																																																																			NEIL1	-	pfam_DNA_glyclase/AP_lyase_DNA-bd,superfamily_Ribosomal_S13-like_H2TH		0.597	NEIL1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	NEIL1	HGNC	protein_coding	OTTHUMT00000419885.1	G	NM_024608		75644551	+1	no_errors	ENST00000355059	ensembl	human	known	70_37	silent	SNP	0.734	A
NEUROD1	4760	genome.wustl.edu	37	2	182542884	182542884	+	Missense_Mutation	SNP	T	T	C			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr2:182542884T>C	ENST00000295108.3	-	2	1161	c.704A>G	c.(703-705)gAc>gGc	p.D235G	CERKL_ENST00000479558.1_Intron|NEUROD1_ENST00000496876.1_Intron	NM_002500.4	NP_002491.2	Q13562	NDF1_HUMAN	neuronal differentiation 1	235					amacrine cell differentiation (GO:0035881)|anterior/posterior pattern specification (GO:0009952)|cellular response to glucose stimulus (GO:0071333)|cerebellum development (GO:0021549)|dentate gyrus development (GO:0021542)|embryonic organ morphogenesis (GO:0048562)|endocrine pancreas development (GO:0031018)|enteroendocrine cell differentiation (GO:0035883)|glucose homeostasis (GO:0042593)|inner ear development (GO:0048839)|insulin secretion (GO:0030073)|negative regulation of JAK-STAT cascade (GO:0046426)|negative regulation of type B pancreatic cell apoptotic process (GO:2000675)|neurogenesis (GO:0022008)|nitric oxide mediated signal transduction (GO:0007263)|nucleocytoplasmic transport (GO:0006913)|pancreatic A cell fate commitment (GO:0003326)|pancreatic PP cell fate commitment (GO:0003329)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell differentiation (GO:0045597)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription regulatory region DNA binding (GO:2000679)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cell cycle arrest (GO:0071156)|regulation of insulin secretion (GO:0050796)|regulation of intestinal epithelial structure maintenance (GO:0060730)|response to drug (GO:0042493)|response to glucose (GO:0009749)|signal transduction involved in regulation of gene expression (GO:0023019)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|E-box binding (GO:0070888)|protein heterodimerization activity (GO:0046982)|RNA polymerase II activating transcription factor binding (GO:0001102)|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 positive regulation of transcription (GO:0001077)|RNA polymerase II transcription coactivator activity (GO:0001105)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)			endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25			OV - Ovarian serous cystadenocarcinoma(117;0.088)			ATGGGAGCTGTCCATGGTACC	0.637											OREG0005604	type=TRANSCRIPTION FACTOR BINDING SITE|Gene=NEUROD1|TFbs=REST|Dataset=NRSF/REST ChIPSeq sites|EvidenceSubtype=Chromatin immunoprecipitation with tag sequencing (ChIP-TS)																																					0													62.0	68.0	66.0					2																	182542884		2203	4300	6503	SO:0001583	missense	4760			U50823	CCDS2283.1	2q32	2013-05-21	2012-02-22		ENSG00000162992	ENSG00000162992		"""Basic helix-loop-helix proteins"""	7762	protein-coding gene	gene with protein product	"""beta-cell E-box transactivator 2"", ""neurogenic helix-loop-helix protein NEUROD"""	601724	"""neurogenic differentiation 1"""	NEUROD		7754368, 8786144	Standard	NM_002500		Approved	BETA2, BHF-1, NeuroD, bHLHa3, MODY6	uc002uof.4	Q13562	OTTHUMG00000132583	ENST00000295108.3:c.704A>G	2.37:g.182542884T>C	ENSP00000295108:p.Asp235Gly	Somatic	1977	WXS	Illumina HiSeq	Phase_IV	B2R9I8|F1T0E1|O00343|Q13340|Q5U095|Q96TH0|Q99455|Q9UEC8	Missense_Mutation	SNP	pfam_Neurogenic_DUF,pfam_HLH_dom,superfamily_HLH_dom,smart_HLH_dom,pirsf_TF_bHLH_NeuroD,pfscan_HLH_dom	p.D235G	ENST00000295108.3	37	c.704	CCDS2283.1	2	.	.	.	.	.	.	.	.	.	.	T	13.80	2.344201	0.41498	.	.	ENSG00000162992	ENST00000295108	T	0.63744	-0.06	6.02	6.02	0.97574	Neurogenic differentiation factor, domain of unknown function (1);	0.095401	0.64402	D	0.000001	T	0.64182	0.2575	L	0.51422	1.61	0.80722	D	1	P	0.36086	0.536	P	0.44422	0.449	T	0.60255	-0.7299	10	0.25751	T	0.34	-25.8599	15.3734	0.74584	0.0:0.0:0.0:1.0	.	235	Q13562	NDF1_HUMAN	G	235	ENSP00000295108:D235G	ENSP00000295108:D235G	D	-	2	0	NEUROD1	182251129	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	2.885000	0.48570	2.299000	0.77371	0.528000	0.53228	GAC	NEUROD1	-	pfam_Neurogenic_DUF,pirsf_TF_bHLH_NeuroD		0.637	NEUROD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NEUROD1	HGNC	protein_coding	OTTHUMT00000255792.2	T	NM_002500		182542884	-1	no_errors	ENST00000295108	ensembl	human	known	70_37	missense	SNP	1.000	C
NFATC1	4772	genome.wustl.edu	37	18	77170429	77170429	+	Missense_Mutation	SNP	G	G	A			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr18:77170429G>A	ENST00000427363.2	+	2	154	c.154G>A	c.(154-156)Gtc>Atc	p.V52I	NFATC1_ENST00000545796.1_Intron|NFATC1_ENST00000586434.1_Missense_Mutation_p.V39I|NFATC1_ENST00000329101.4_Missense_Mutation_p.V39I|NFATC1_ENST00000318065.5_Missense_Mutation_p.V39I|NFATC1_ENST00000592223.1_Missense_Mutation_p.V39I|NFATC1_ENST00000591814.1_Missense_Mutation_p.V52I|NFATC1_ENST00000397790.2_Intron|NFATC1_ENST00000587635.1_Missense_Mutation_p.V52I|NFATC1_ENST00000542384.1_Missense_Mutation_p.V52I|NFATC1_ENST00000253506.5_Missense_Mutation_p.V52I			O95644	NFAC1_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 1	52					calcium ion transport (GO:0006816)|epithelial to mesenchymal transition (GO:0001837)|Fc-epsilon receptor signaling pathway (GO:0038095)|G1/S transition of mitotic cell cycle (GO:0000082)|heart development (GO:0007507)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|osteoclast differentiation (GO:0030316)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)	FK506 binding (GO:0005528)|mitogen-activated protein kinase p38 binding (GO:0048273)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|RNA polymerase II transcription factor binding (GO:0001085)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			NS(2)|breast(1)|endometrium(7)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(4)|skin(1)|soft_tissue(1)	40		Esophageal squamous(42;0.0157)|Melanoma(33;0.144)		OV - Ovarian serous cystadenocarcinoma(15;3.73e-07)|BRCA - Breast invasive adenocarcinoma(31;0.0257)	Pseudoephedrine(DB00852)	ATCCTCCAACGTCAGCCCCGC	0.622																																					GBM(151;1210 2593 28719 45011)												0													71.0	82.0	79.0					18																	77170429		2203	4300	6503	SO:0001583	missense	4772			U08015	CCDS12015.1, CCDS12016.1, CCDS32850.1, CCDS59326.1, CCDS59327.1, CCDS62467.1, CCDS62468.1, CCDS62469.1, CCDS62470.1, CCDS62471.1	18q23	2009-11-24			ENSG00000131196	ENSG00000131196		"""Nuclear factor of activated T-cells"""	7775	protein-coding gene	gene with protein product		600489				8202141	Standard	NM_001278669		Approved	NF-ATC, NFATc, NFAT2	uc002lnf.3	O95644	OTTHUMG00000132897	ENST00000427363.2:c.154G>A	18.37:g.77170429G>A	ENSP00000389377:p.Val52Ile	Somatic		WXS	Illumina HiSeq	Phase_IV	B5B2M4|B5B2M5|B5B2M6|B5B2M7|B5B2M8|B5B2M9|B5B2N1|Q12865|Q15793|Q2M1S3	Missense_Mutation	SNP	pfam_RHD,pfam_IPT_TIG_rcpt,superfamily_p53-like_TF_DNA-bd,superfamily_Ig_E-set,smart_IPT_TIG_rcpt,pfscan_RHD,prints_NFAT	p.V52I	ENST00000427363.2	37	c.154		18	.	.	.	.	.	.	.	.	.	.	G	4.668	0.124106	0.08931	.	.	ENSG00000131196	ENST00000318065;ENST00000253506;ENST00000542384;ENST00000329101;ENST00000427363;ENST00000397794	T;T;T	0.42513	0.97;0.97;0.97	4.39	-8.77	0.00827	.	1.595400	0.03526	N	0.221701	T	0.14527	0.0351	N	0.02539	-0.55	0.09310	N	0.999998	B;B;B;B;B;B;B	0.19583	0.005;0.011;0.005;0.037;0.037;0.037;0.011	B;B;B;B;B;B;B	0.08055	0.002;0.002;0.003;0.003;0.003;0.002;0.003	T	0.21655	-1.0239	10	0.31617	T	0.26	-6.78	4.3777	0.11279	0.1236:0.3999:0.3171:0.1594	.	39;39;52;52;52;39;52	B5B2M7;B5B2N1;B5B2M6;O95644;B5B2M4;B5B2M5;Q2M1S3	.;.;.;NFAC1_HUMAN;.;.;.	I	52;52;52;39;39;16	ENSP00000253506:V52I;ENSP00000442435:V52I;ENSP00000327850:V39I	ENSP00000253506:V52I	V	+	1	0	NFATC1	75271417	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.650000	0.05378	-3.556000	0.00142	-0.367000	0.07326	GTC	NFATC1	-	NULL		0.622	NFATC1-007	KNOWN	basic	protein_coding	NFATC1	HGNC	protein_coding	OTTHUMT00000450507.1	G	NM_172390		77170429	+1	no_errors	ENST00000427363	ensembl	human	known	70_37	missense	SNP	0.000	A
NFKB1	4790	genome.wustl.edu	37	4	103534740	103534741	+	Splice_Site	INS	-	-	A	rs386357216|rs148268461	byFrequency	TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr4:103534740_103534741insA	ENST00000505458.1	+	23	3023		c.e23+2		NFKB1_ENST00000394820.4_Splice_Site|NFKB1_ENST00000600343.1_Splice_Site|NFKB1_ENST00000226574.4_Splice_Site			P19838	NFKB1_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells 1						apoptotic process (GO:0006915)|cellular response to interleukin-1 (GO:0071347)|cellular response to interleukin-6 (GO:0071354)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to mechanical stimulus (GO:0071260)|cellular response to nicotine (GO:0071316)|cellular response to peptide hormone stimulus (GO:0071375)|Fc-epsilon receptor signaling pathway (GO:0038095)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|membrane protein intracellular domain proteolysis (GO:0031293)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of calcidiol 1-monooxygenase activity (GO:0010956)|negative regulation of cellular protein metabolic process (GO:0032269)|negative regulation of cholesterol transport (GO:0032375)|negative regulation of cytokine production (GO:0001818)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-12 biosynthetic process (GO:0045083)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of vitamin D biosynthetic process (GO:0010957)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of hyaluronan biosynthetic process (GO:1900127)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|positive regulation of miRNA metabolic process (GO:2000630)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|response to copper ion (GO:0046688)|response to oxidative stress (GO:0006979)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription from RNA polymerase II promoter (GO:0006366)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|I-kappaB/NF-kappaB complex (GO:0033256)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|nucleic acid binding transcription factor activity (GO:0001071)|regulatory region DNA binding (GO:0000975)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			biliary_tract(1)|breast(4)|endometrium(2)|large_intestine(6)|lung(7)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	27		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;6.59e-08)	Acetylsalicylic acid(DB00945)|Pranlukast(DB01411)|Thalidomide(DB01041)|Triflusal(DB08814)	AGCAAATAGGTAAAAAAAAAGA	0.5													?|AAAAAAAAA|AAAAAAAAAA|unsure	422	0.0842652	0.1641	0.0389	5008	,	,		18742	0.0605		0.0696	False		,,,				2504	0.0481																0									,	509,3757		21,467,1645					,	4.8	1.0		dbSNP_126	29	537,7717		10,517,3600	no	splice-5,splice-5	NFKB1	NM_003998.3,NM_001165412.1	,	31,984,5245	A1A1,A1R,RR		6.5059,11.9316,8.3546	,	,		1046,11474				SO:0001630	splice_region_variant	4790			M58603	CCDS3657.1, CCDS54783.1	4q24	2013-01-10	2008-07-28		ENSG00000109320	ENSG00000109320		"""Ankyrin repeat domain containing"""	7794	protein-coding gene	gene with protein product		164011				1992489	Standard	NM_003998		Approved	KBF1, p105, NFKB-p50, p50, NF-kappaB, NFkappaB, NF-kB1	uc011cep.2	P19838	OTTHUMG00000161080	ENST00000505458.1:c.2746+2->A	4.37:g.103534749_103534749dupA		Somatic		WXS	Illumina HiSeq	Phase_IV	A8K5Y5|B3KVE8|Q68D84|Q86V43|Q8N4X7|Q9NZC0	Splice_Site	INS	-	e22+2	ENST00000505458.1	37	c.2749+2_2749+1	CCDS54783.1	4																																																																																			NFKB1	-	-		0.500	NFKB1-003	KNOWN	alternative_5_UTR|non_canonical_polymorphism|basic|appris_candidate|CCDS	protein_coding	NFKB1	HGNC	protein_coding	OTTHUMT00000363411.1	-		Intron	103534741	+1	no_errors	ENST00000226574	ensembl	human	known	70_37	splice_site_ins	INS	0.998:0.217	A
NFX1	4799	genome.wustl.edu	37	9	33351829	33351829	+	Intron	SNP	C	C	T	rs367553877		TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr9:33351829C>T	ENST00000379540.3	+	16	2717				NFX1_ENST00000379521.4_Intron|Y_RNA_ENST00000363674.1_RNA	NM_002504.4	NP_002495.2	Q12986	NFX1_HUMAN	nuclear transcription factor, X-box binding 1						inflammatory response (GO:0006954)|negative regulation of MHC class II biosynthetic process (GO:0045347)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	nucleus (GO:0005634)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(8)|lung(4)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	25			LUSC - Lung squamous cell carcinoma(29;0.00506)	GBM - Glioblastoma multiforme(74;0.224)		GACTGTAGTTCTGAGGCTACT	0.488																																																	0													32.0	28.0	30.0					9																	33351829		2203	4300	6503	SO:0001627	intron_variant	4799			U19759	CCDS6538.1, CCDS6539.1, CCDS6540.1	9p12	2013-12-13			ENSG00000086102	ENSG00000086102			7803	protein-coding gene	gene with protein product		603255				7964459, 2511169	Standard	NM_002504		Approved	NFX2, MGC20369, Tex42, TEG-42	uc003zsq.3	Q12986	OTTHUMG00000019772	ENST00000379540.3:c.2655+41C>T	9.37:g.33351829C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A8K6H8|Q5VXW6|Q96EL5|Q9BXI1	RNA	SNP	-	NULL	ENST00000379540.3	37	NULL	CCDS6538.1	9																																																																																			NFX1	-	-		0.488	NFX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NFX1	HGNC	protein_coding	OTTHUMT00000052069.1	C			33351829	+1	no_errors	ENST00000466971	ensembl	human	known	70_37	rna	SNP	0.003	T
NGFR	4804	genome.wustl.edu	37	17	47590069	47590069	+	Splice_Site	SNP	G	G	T			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr17:47590069G>T	ENST00000172229.3	+	6	1107		c.e6-1		RP5-1029K10.2_ENST00000514506.1_RNA|NGFR_ENST00000504201.1_Splice_Site	NM_002507.3	NP_002498.1	P08138	TNR16_HUMAN	nerve growth factor receptor						apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|central nervous system development (GO:0007417)|circadian regulation of gene expression (GO:0032922)|detection of temperature stimulus (GO:0016048)|glucose homeostasis (GO:0042593)|hair follicle morphogenesis (GO:0031069)|intracellular protein transport (GO:0006886)|membrane protein intracellular domain proteolysis (GO:0031293)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell cycle (GO:0045786)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|negative regulation of hair follicle development (GO:0051799)|nerve development (GO:0021675)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of axonogenesis (GO:0050772)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of odontogenesis of dentin-containing tooth (GO:0042488)|regulation of axonogenesis (GO:0050770)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of glucose import in response to insulin stimulus (GO:2001273)	cell surface (GO:0009986)|cytosol (GO:0005829)|endosome (GO:0005768)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|neuronal postsynaptic density (GO:0097481)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)	death receptor activity (GO:0005035)|Rab GTPase binding (GO:0017137)|receptor activity (GO:0004872)|signal transducer activity (GO:0004871)|transmembrane signaling receptor activity (GO:0004888)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(7)|ovary(1)	17	all_cancers(4;1.45e-13)|Breast(4;6.34e-28)|all_epithelial(4;4.95e-17)					TTTCTCTGCAGCCCTCAAGGG	0.642																																																	0													51.0	55.0	53.0					17																	47590069		2188	4273	6461	SO:0001630	splice_region_variant	4804			M14764	CCDS11549.1	17q21-q22	2013-05-22	2010-04-28		ENSG00000064300	ENSG00000064300		"""Tumor necrosis factor receptor superfamily"", ""CD molecules"""	7809	protein-coding gene	gene with protein product	"""low affinity nerve growth factor receptor"", ""TNFR superfamily, member 16"""	162010	"""nerve growth factor receptor (TNFR superfamily, member 16)"""			3022937, 3006050	Standard	NM_002507		Approved	TNFRSF16, CD271, p75NTR	uc002ioz.4	P08138	OTTHUMG00000161495	ENST00000172229.3:c.983-1G>T	17.37:g.47590069G>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B2R961|B4E096	Splice_Site	SNP	-	e6-1	ENST00000172229.3	37	c.983-1	CCDS11549.1	17	.	.	.	.	.	.	.	.	.	.	G	19.19	3.779812	0.70222	.	.	ENSG00000064300	ENST00000172229;ENST00000504201	.	.	.	4.88	4.88	0.63580	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.9629	0.71169	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	NGFR	44945068	1.000000	0.71417	1.000000	0.80357	0.808000	0.45660	7.989000	0.88205	2.242000	0.73789	0.561000	0.74099	.	NGFR	-	-		0.642	NGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NGFR	HGNC	protein_coding	OTTHUMT00000365150.1	G		Intron	47590069	+1	no_errors	ENST00000172229	ensembl	human	known	70_37	splice_site	SNP	1.000	T
NLGN3	54413	genome.wustl.edu	37	X	70387591	70387591	+	Silent	SNP	G	G	A			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chrX:70387591G>A	ENST00000358741.3	+	7	1947	c.1644G>A	c.(1642-1644)aaG>aaA	p.K548K	NLGN3_ENST00000476589.1_3'UTR|NLGN3_ENST00000374051.3_Silent_p.K528K|NLGN3_ENST00000536169.1_Silent_p.K508K	NM_181303.1	NP_851820.1	Q9NZ94	NLGN3_HUMAN	neuroligin 3	548					adult behavior (GO:0030534)|axon extension (GO:0048675)|learning (GO:0007612)|neuron cell-cell adhesion (GO:0007158)|oligodendrocyte differentiation (GO:0048709)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|receptor-mediated endocytosis (GO:0006898)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of inhibitory postsynaptic membrane potential (GO:0060080)|regulation of long-term synaptic potentiation (GO:1900271)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|regulation of synaptic transmission (GO:0050804)|regulation of terminal button organization (GO:2000331)|rhythmic synaptic transmission (GO:0060024)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse organization (GO:0050808)|visual learning (GO:0008542)|vocalization behavior (GO:0071625)	cell junction (GO:0030054)|cell surface (GO:0009986)|endocytic vesicle (GO:0030139)|excitatory synapse (GO:0060076)|integral component of plasma membrane (GO:0005887)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|neurexin family protein binding (GO:0042043)|receptor activity (GO:0004872)			biliary_tract(1)|breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	37	Renal(35;0.156)					ACTTCTCCAAGAATGATGTTA	0.483																																					Esophageal Squamous(103;760 1488 16849 22250 40351)												0													146.0	124.0	132.0					X																	70387591		2203	4300	6503	SO:0001819	synonymous_variant	54413			AB040913	CCDS14407.1, CCDS55441.1, CCDS55442.1	Xq13.1	2008-08-01			ENSG00000196338	ENSG00000196338			14289	protein-coding gene	gene with protein product		300336				10767552, 10819331	Standard	NM_181303		Approved	HNL3, KIAA1480, ASPGX1, AUTSX1	uc004dzd.2	Q9NZ94	OTTHUMG00000021790	ENST00000358741.3:c.1644G>A	X.37:g.70387591G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	B2RBK1|D2X2H6|D3DVV0|D3DVV1|Q86V51|Q8NCD0|Q9NZ95|Q9NZ96|Q9NZ97|Q9P248	Silent	SNP	pfam_CarbesteraseB,pfam_AB_hydrolase_3,prints_Neuroligin	p.K548	ENST00000358741.3	37	c.1644	CCDS55441.1	X																																																																																			NLGN3	-	pfam_CarbesteraseB		0.483	NLGN3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NLGN3	HGNC	protein_coding	OTTHUMT00000057121.1	G	NM_018977		70387591	+1	no_errors	ENST00000358741	ensembl	human	known	70_37	silent	SNP	1.000	A
NLGN3	54413	genome.wustl.edu	37	X	70390052	70390052	+	3'UTR	SNP	T	T	C			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chrX:70390052T>C	ENST00000358741.3	+	0	2955				NLGN3_ENST00000536169.1_3'UTR|NLGN3_ENST00000476589.1_3'UTR|NLGN3_ENST00000374051.3_3'UTR	NM_181303.1	NP_851820.1	Q9NZ94	NLGN3_HUMAN	neuroligin 3						adult behavior (GO:0030534)|axon extension (GO:0048675)|learning (GO:0007612)|neuron cell-cell adhesion (GO:0007158)|oligodendrocyte differentiation (GO:0048709)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|receptor-mediated endocytosis (GO:0006898)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of inhibitory postsynaptic membrane potential (GO:0060080)|regulation of long-term synaptic potentiation (GO:1900271)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|regulation of synaptic transmission (GO:0050804)|regulation of terminal button organization (GO:2000331)|rhythmic synaptic transmission (GO:0060024)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse organization (GO:0050808)|visual learning (GO:0008542)|vocalization behavior (GO:0071625)	cell junction (GO:0030054)|cell surface (GO:0009986)|endocytic vesicle (GO:0030139)|excitatory synapse (GO:0060076)|integral component of plasma membrane (GO:0005887)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|neurexin family protein binding (GO:0042043)|receptor activity (GO:0004872)			biliary_tract(1)|breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(10)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	37	Renal(35;0.156)					cacacacacatatatgtatac	0.507																																					Esophageal Squamous(103;760 1488 16849 22250 40351)												0																																										SO:0001624	3_prime_UTR_variant	54413			AB040913	CCDS14407.1, CCDS55441.1, CCDS55442.1	Xq13.1	2008-08-01			ENSG00000196338	ENSG00000196338			14289	protein-coding gene	gene with protein product		300336				10767552, 10819331	Standard	NM_181303		Approved	HNL3, KIAA1480, ASPGX1, AUTSX1	uc004dzd.2	Q9NZ94	OTTHUMG00000021790	ENST00000358741.3:c.*105T>C	X.37:g.70390052T>C		Somatic		WXS	Illumina HiSeq	Phase_IV	B2RBK1|D2X2H6|D3DVV0|D3DVV1|Q86V51|Q8NCD0|Q9NZ95|Q9NZ96|Q9NZ97|Q9P248	RNA	SNP	-	NULL	ENST00000358741.3	37	NULL	CCDS55441.1	X																																																																																			NLGN3	-	-		0.507	NLGN3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	NLGN3	HGNC	protein_coding	OTTHUMT00000057121.1	T	NM_018977		70390052	+1	no_errors	ENST00000476589	ensembl	human	known	70_37	rna	SNP	0.000	C
NHSL2	340527	genome.wustl.edu	37	X	71360613	71360613	+	Missense_Mutation	SNP	G	G	A			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chrX:71360613G>A	ENST00000373677.1	+	2	3379	c.2117G>A	c.(2116-2118)aGc>aAc	p.S706N	NHSL2_ENST00000535692.1_Missense_Mutation_p.S706N|NHSL2_ENST00000510661.1_Missense_Mutation_p.S841N|NHSL2_ENST00000540800.1_Missense_Mutation_p.S1072N			Q5HYW2	NHSL2_HUMAN	NHS-like 2	706										NS(1)|breast(3)|endometrium(4)|kidney(2)|large_intestine(10)|lung(7)|stomach(1)	28	Renal(35;0.156)					AGGGAGGCAAGCCCTCTGGGT	0.537																																																	0													45.0	38.0	41.0					X																	71360613		2203	4300	6503	SO:0001583	missense	340527					Xq13.1	2009-02-18			ENSG00000204131	ENSG00000204131			33737	protein-coding gene	gene with protein product							Standard	NM_001013627		Approved		uc011mqa.2	Q5HYW2	OTTHUMG00000021807	ENST00000373677.1:c.2117G>A	X.37:g.71360613G>A	ENSP00000362781:p.Ser706Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RN94	Missense_Mutation	SNP	NULL	p.S1072N	ENST00000373677.1	37	c.3215		X	.	.	.	.	.	.	.	.	.	.	G	15.84	2.950850	0.53186	.	.	ENSG00000204131	ENST00000540800;ENST00000373677;ENST00000510661;ENST00000535692	T;T;T;T	0.46063	1.5;0.89;0.88;0.89	5.93	1.13	0.20643	.	0.402929	0.24096	N	0.041584	T	0.25419	0.0618	L	0.36672	1.1	0.09310	N	1	B;B;B	0.28850	0.225;0.002;0.001	B;B;B	0.29598	0.104;0.004;0.003	T	0.15037	-1.0451	10	0.40728	T	0.16	3.8343	1.2142	0.01910	0.3276:0.1387:0.388:0.1458	.	1072;841;706	F5H593;D6RBM4;Q5HYW2	.;.;NHSL2_HUMAN	N	1072;706;841;706	ENSP00000444617:S1072N;ENSP00000362781:S706N;ENSP00000424079:S841N;ENSP00000444914:S706N	ENSP00000362781:S706N	S	+	2	0	NHSL2	71277338	0.000000	0.05858	0.001000	0.08648	0.941000	0.58515	0.088000	0.14979	-0.215000	0.10063	0.600000	0.82982	AGC	NHSL2	-	NULL		0.537	NHSL2-001	KNOWN	basic	protein_coding	NHSL2	HGNC	protein_coding	OTTHUMT00000057170.1	G	NM_001013627		71360613	+1	no_errors	ENST00000540800	ensembl	human	known	70_37	missense	SNP	0.000	A
NLRP11	204801	genome.wustl.edu	37	19	56297128	56297128	+	Nonsense_Mutation	SNP	T	T	A			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr19:56297128T>A	ENST00000589093.1	-	10	3058	c.2965A>T	c.(2965-2967)Aga>Tga	p.R989*	NLRP11_ENST00000360133.3_Nonsense_Mutation_p.R935*|NLRP11_ENST00000592953.1_Nonsense_Mutation_p.R890*|NLRP11_ENST00000443188.1_Nonsense_Mutation_p.R989*|NLRP11_ENST00000589824.2_Nonsense_Mutation_p.R935*			P59045	NAL11_HUMAN	NLR family, pyrin domain containing 11	989							ATP binding (GO:0005524)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced ascorbate as one donor, and incorporation of one atom of oxygen (GO:0016715)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	66		Colorectal(82;0.0002)		GBM - Glioblastoma multiforme(193;0.0325)		CCAATTTCTCTGCCTTCCTTT	0.403																																																	0													100.0	95.0	97.0					19																	56297128		2203	4300	6503	SO:0001587	stop_gained	204801			AY095145	CCDS12935.1, CCDS74458.1	19q13.43	2008-02-05	2006-12-08	2006-12-08		ENSG00000179873		"""Nucleotide-binding domain and leucine rich repeat containing"""	22945	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 11"""	609664	"""NACHT, leucine rich repeat and PYD containing 11"""	NALP11		12563287, 12019269	Standard	NM_145007		Approved	PYPAF6, NOD17, PAN10, CLR19.6	uc010ygf.2	P59045		ENST00000589093.1:c.2965A>T	19.37:g.56297128T>A	ENSP00000466285:p.Arg989*	Somatic		WXS	Illumina HiSeq	Phase_IV	C9JSF5|Q2TV85|Q2TV86|Q53ZZ0|Q8NBF5	Nonsense_Mutation	SNP	pfam_DAPIN,superfamily_DEATH-like,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_DAPIN	p.R989*	ENST00000589093.1	37	c.2965	CCDS12935.1	19	.	.	.	.	.	.	.	.	.	.	T	43	9.840681	0.99277	.	.	ENSG00000179873	ENST00000443188;ENST00000360133	.	.	.	1.4	1.4	0.22301	.	.	.	.	.	.	.	.	.	.	.	0.58432	D	0.999992	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	4.9415	0.13967	0.0:0.0:0.0:1.0	.	.	.	.	X	989;935	.	ENSP00000353251:R935X	R	-	1	2	NLRP11	60988940	0.153000	0.22777	0.412000	0.26496	0.162000	0.22319	0.290000	0.18975	0.907000	0.36646	0.533000	0.62120	AGA	NLRP11	-	NULL		0.403	NLRP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NLRP11	HGNC	protein_coding	OTTHUMT00000453657.1	T	NM_145007		56297128	-1	no_errors	ENST00000443188	ensembl	human	known	70_37	nonsense	SNP	0.453	A
NLRX1	79671	genome.wustl.edu	37	11	119042084	119042084	+	5'UTR	SNP	C	C	T			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr11:119042084C>T	ENST00000409109.1	+	0	559				NLRX1_ENST00000409265.4_5'UTR|NLRX1_ENST00000474751.2_3'UTR|NLRX1_ENST00000292199.2_5'UTR|NLRX1_ENST00000409991.1_5'UTR|NLRX1_ENST00000525863.1_5'UTR	NM_001282144.1	NP_001269073.1	Q86UT6	NLRX1_HUMAN	NLR family member X1						innate immune response (GO:0045087)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of inflammatory response (GO:0050728)|negative regulation of innate immune response (GO:0045824)|negative regulation of interferon-beta production (GO:0032688)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of RIG-I signaling pathway (GO:0039536)|negative regulation of type I interferon production (GO:0032480)|viral process (GO:0016032)	mitochondrial outer membrane (GO:0005741)	ATP binding (GO:0005524)			cervix(1)|endometrium(2)|kidney(2)|lung(10)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	22	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)		CGGTCCTAGGCCCCCCAGGCT	0.592																																																	0													51.0	51.0	51.0					11																	119042084		2200	4295	6495	SO:0001623	5_prime_UTR_variant	79671			AB094095	CCDS8416.1	11q23.3	2007-02-07			ENSG00000160703	ENSG00000160703		"""Nucleotide-binding domain and leucine rich repeat containing"""	29890	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat containing X1"", ""NOD-like receptor X1"", ""NLR family, X1"""	611947				12766759	Standard	XM_005271669		Approved	NOD9, CLR11.3	uc001pvw.3	Q86UT6	OTTHUMG00000154476	ENST00000409109.1:c.-29C>T	11.37:g.119042084C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A8K6Q1|B3KPK2|B3KTA2|Q7RTR3|Q96D51|Q9H724	RNA	SNP	-	NULL	ENST00000409109.1	37	NULL	CCDS8416.1	11																																																																																			NLRX1	-	-		0.592	NLRX1-004	PUTATIVE	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NLRX1	HGNC	protein_coding	OTTHUMT00000335403.1	C	NM_170722		119042084	+1	no_errors	ENST00000468765	ensembl	human	known	70_37	rna	SNP	0.000	T
NMD3	51068	genome.wustl.edu	37	3	160968681	160968681	+	Missense_Mutation	SNP	G	G	A	rs201322317		TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr3:160968681G>A	ENST00000460469.1	+	15	1950	c.1495G>A	c.(1495-1497)Gca>Aca	p.A499T	NMD3_ENST00000351193.2_Missense_Mutation_p.A499T|NMD3_ENST00000472947.1_Intron			Q96D46	NMD3_HUMAN	NMD3 ribosome export adaptor	499	Necessary for the nuclear export of the 60S ribosomal subunit.				protein transport (GO:0015031)|ribosomal large subunit export from nucleus (GO:0000055)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	poly(A) RNA binding (GO:0044822)|protein binding, bridging (GO:0030674)|ribosomal large subunit binding (GO:0043023)			cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(10)|ovary(1)|skin(1)|urinary_tract(2)	25			Lung(72;0.00111)|LUSC - Lung squamous cell carcinoma(72;0.00156)			TGAAGAAGGTGCATCAATGCT	0.438																																																	0													173.0	147.0	156.0					3																	160968681		2203	4300	6503	SO:0001583	missense	51068			BC013317	CCDS3194.1	3q26.1	2013-08-06	2013-08-06		ENSG00000169251	ENSG00000169251			24250	protein-coding gene	gene with protein product		611021	"""NMD3 homolog (S. cerevisiae)"""			10810093, 23782956, 12773398	Standard	NM_015938		Approved	CGI-07	uc003feb.1	Q96D46	OTTHUMG00000159063	ENST00000460469.1:c.1495G>A	3.37:g.160968681G>A	ENSP00000419004:p.Ala499Thr	Somatic		WXS	Illumina HiSeq	Phase_IV	D3DNM7|Q9Y2Z6	Missense_Mutation	SNP	pfam_NMD3	p.A499T	ENST00000460469.1	37	c.1495	CCDS3194.1	3	.	.	.	.	.	.	.	.	.	.	G	16.22	3.061481	0.55432	.	.	ENSG00000169251	ENST00000351193;ENST00000460469;ENST00000540137	T;T	0.23950	1.88;1.88	4.88	4.01	0.46588	.	0.216529	0.48286	D	0.000199	T	0.43612	0.1255	L	0.57536	1.79	0.58432	D	0.99999	D	0.89917	1.0	D	0.73708	0.981	T	0.19679	-1.0298	10	0.29301	T	0.29	.	12.774	0.57437	0.0803:0.0:0.9197:0.0	.	499	Q96D46	NMD3_HUMAN	T	499;499;379	ENSP00000307525:A499T;ENSP00000419004:A499T	ENSP00000307525:A499T	A	+	1	0	NMD3	162451375	1.000000	0.71417	0.998000	0.56505	0.103000	0.19146	5.852000	0.69488	1.195000	0.43115	-0.244000	0.11960	GCA	NMD3	-	NULL		0.438	NMD3-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	NMD3	HGNC	protein_coding	OTTHUMT00000353114.1	G	NM_015938		160968681	+1	no_errors	ENST00000351193	ensembl	human	known	70_37	missense	SNP	1.000	A
NME5	8382	genome.wustl.edu	37	5	137464199	137464199	+	Silent	SNP	C	C	T			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr5:137464199C>T	ENST00000265191.2	-	4	454	c.405G>A	c.(403-405)gcG>gcA	p.A135A	NME5_ENST00000508252.1_5'UTR	NM_003551.2	NP_003542.1	P56597	NDK5_HUMAN	NME/NM23 family member 5	135					cilium assembly (GO:0042384)|CTP biosynthetic process (GO:0006241)|epithelial cilium movement (GO:0003351)|GTP biosynthetic process (GO:0006183)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|nucleoside metabolic process (GO:0009116)|spermatid development (GO:0007286)|spermatogenesis (GO:0007283)|UTP biosynthetic process (GO:0006228)|ventricular system development (GO:0021591)	sperm flagellum (GO:0036126)	ATP binding (GO:0005524)|nucleoside diphosphate kinase activity (GO:0004550)			kidney(1)|large_intestine(1)|lung(2)|skin(1)	5			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			TTTCTCTTTCCGCAGCAGCAA	0.393																																																	0													148.0	127.0	134.0					5																	137464199		2203	4300	6503	SO:0001819	synonymous_variant	8382			Y14992	CCDS4197.1	5q31.2	2012-05-18	2012-05-18		ENSG00000112981	ENSG00000112981			7853	protein-coding gene	gene with protein product	"""radial spoke 23 homolog (Chlamydomonas)"""	603575	"""non-metastatic cells 5, protein expressed in (nucleoside-diphosphate kinase)"""			9742940, 19852809	Standard	NM_003551		Approved	nm23-H5, RSPH23	uc003lce.3	P56597	OTTHUMG00000129207	ENST00000265191.2:c.405G>A	5.37:g.137464199C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B2R5G7	Silent	SNP	pfam_Nucleoside_diP_kinase,pfam_Dpy-30_motif,superfamily_Nucleoside_diP_kinase,smart_Nucleoside_diP_kinase,pirsf_NDK_H5,prints_Nucleoside_diP_kinase	p.A135	ENST00000265191.2	37	c.405	CCDS4197.1	5																																																																																			NME5	-	pfam_Nucleoside_diP_kinase,superfamily_Nucleoside_diP_kinase,smart_Nucleoside_diP_kinase,pirsf_NDK_H5,prints_Nucleoside_diP_kinase		0.393	NME5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NME5	HGNC	protein_coding	OTTHUMT00000251286.1	C	NM_003551		137464199	-1	no_errors	ENST00000265191	ensembl	human	known	70_37	silent	SNP	0.957	T
NMS	129521	genome.wustl.edu	37	2	101097609	101097609	+	Nonsense_Mutation	SNP	C	C	T	rs142655356		TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr2:101097609C>T	ENST00000376865.1	+	8	401	c.394C>T	c.(394-396)Cga>Tga	p.R132*		NM_001011717.1	NP_001011717.1	Q5H8A3	NMS_HUMAN	neuromedin S	132					neuropeptide signaling pathway (GO:0007218)	extracellular region (GO:0005576)				breast(1)|large_intestine(4)|lung(7)|ovary(1)|stomach(1)	14						GACCTGGGGACGACCCTTTTT	0.423																																																	0								C	stop/ARG	0,4406		0,0,2203	296.0	280.0	285.0		394	-1.8	0.0	2	dbSNP_134	285	1,8599	1.2+/-3.3	0,1,4299	yes	stop-gained	NMS	NM_001011717.1		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		132/154	101097609	1,13005	2203	4300	6503	SO:0001587	stop_gained	129521			AB164464	CCDS33259.1	2q11.2	2013-02-26			ENSG00000204640	ENSG00000204640		"""Endogenous ligands"""	32203	protein-coding gene	gene with protein product	"""prepro-NMS"""					15635449	Standard	NM_001011717		Approved		uc002tan.1	Q5H8A3	OTTHUMG00000153142	ENST00000376865.1:c.394C>T	2.37:g.101097609C>T	ENSP00000366061:p.Arg132*	Somatic		WXS	Illumina HiSeq	Phase_IV		Nonsense_Mutation	SNP	pfam_NMU_C	p.R132*	ENST00000376865.1	37	c.394	CCDS33259.1	2	.	.	.	.	.	.	.	.	.	.	C	12.68	2.009680	0.35415	0.0	1.16E-4	ENSG00000204640	ENST00000376865	.	.	.	4.93	-1.78	0.07957	.	0.166652	0.35708	N	0.003033	.	.	.	.	.	.	0.58432	A	0.999999	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-2.7451	5.684	0.17792	0.5534:0.2851:0.0:0.1615	.	.	.	.	X	132	.	ENSP00000366061:R132X	R	+	1	2	NMS	100464041	0.156000	0.22821	0.013000	0.15412	0.460000	0.32559	-0.532000	0.06164	-0.468000	0.06922	0.655000	0.94253	CGA	NMS	-	pfam_NMU_C		0.423	NMS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NMS	HGNC	protein_coding	OTTHUMT00000329737.1	C	NM_001011717		101097609	+1	no_errors	ENST00000376865	ensembl	human	known	70_37	nonsense	SNP	0.042	T
NNT	23530	genome.wustl.edu	37	5	43644761	43644761	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr5:43644761C>T	ENST00000264663.5	+	9	1368	c.1147C>T	c.(1147-1149)Cag>Tag	p.Q383*	NNT_ENST00000344920.4_Nonsense_Mutation_p.Q383*|NNT_ENST00000512996.2_Nonsense_Mutation_p.Q252*	NM_012343.3	NP_036475.3	Q13423	NNTM_HUMAN	nicotinamide nucleotide transhydrogenase	383					cellular metabolic process (GO:0044237)|hydrogen ion transmembrane transport (GO:1902600)|oxidation-reduction process (GO:0055114)|proton transport (GO:0015992)|reactive oxygen species metabolic process (GO:0072593)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain (GO:0005746)|mitochondrion (GO:0005739)	NAD binding (GO:0051287)|NAD(P)+ transhydrogenase (AB-specific) activity (GO:0008750)|NAD(P)+ transhydrogenase (B-specific) activity (GO:0003957)|NAD(P)+ transhydrogenase activity (GO:0008746)|NADP binding (GO:0050661)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(7)|large_intestine(6)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	Lung NSC(6;2.58e-06)					AATGGCCACTCAGGCCAGCAC	0.418																																																	0													73.0	72.0	72.0					5																	43644761		2203	4300	6503	SO:0001587	stop_gained	23530			U40490	CCDS3949.1	5p12	2008-02-05			ENSG00000112992	ENSG00000112992	1.6.1.1		7863	protein-coding gene	gene with protein product		607878				9271681, 9524818	Standard	NM_182977		Approved		uc003jof.3	Q13423	OTTHUMG00000096961	ENST00000264663.5:c.1147C>T	5.37:g.43644761C>T	ENSP00000264663:p.Gln383*	Somatic		WXS	Illumina HiSeq	Phase_IV	Q16796|Q2TB60|Q8N3V4	Nonsense_Mutation	SNP	pfam_NADH_DH_b,pfam_AlaDH/PNT_NAD(H)-bd,pfam_AlaDH/PNT_N,tigrfam_NADP_transhyd_a	p.Q383*	ENST00000264663.5	37	c.1147	CCDS3949.1	5	.	.	.	.	.	.	.	.	.	.	C	41	8.658757	0.98903	.	.	ENSG00000112992	ENST00000264663;ENST00000344920;ENST00000512996	.	.	.	5.55	5.55	0.83447	.	0.222920	0.48286	D	0.000191	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-1.3711	19.4893	0.95044	0.0:1.0:0.0:0.0	.	.	.	.	X	383;383;252	.	ENSP00000264663:Q383X	Q	+	1	0	NNT	43680518	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.429000	0.80309	2.619000	0.88677	0.655000	0.94253	CAG	NNT	-	tigrfam_NADP_transhyd_a		0.418	NNT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NNT	HGNC	protein_coding	OTTHUMT00000214026.1	C	NM_182977		43644761	+1	no_errors	ENST00000264663	ensembl	human	known	70_37	nonsense	SNP	1.000	T
NOL4	8715	genome.wustl.edu	37	18	31599440	31599440	+	Missense_Mutation	SNP	C	C	T	rs370898845		TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr18:31599440C>T	ENST00000261592.5	-	6	1195	c.898G>A	c.(898-900)Gat>Aat	p.D300N	NOL4_ENST00000538587.1_Missense_Mutation_p.D226N|NOL4_ENST00000535475.1_Missense_Mutation_p.D145N|NOL4_ENST00000535384.1_Missense_Mutation_p.D15N|NOL4_ENST00000589544.1_Missense_Mutation_p.D300N|NOL4_ENST00000269185.4_Missense_Mutation_p.D186N	NM_001198546.1|NM_003787.4	NP_001185475.1|NP_003778.2	O94818	NOL4_HUMAN	nucleolar protein 4	300						nucleolus (GO:0005730)	RNA binding (GO:0003723)			NS(1)|breast(2)|endometrium(6)|kidney(1)|large_intestine(7)|lung(20)|ovary(4)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	51						GGCTGTTCATCTTGCTCCAGC	0.488																																																	0													177.0	150.0	159.0					18																	31599440		2203	4300	6503	SO:0001583	missense	8715			AB017800	CCDS11907.2, CCDS56058.1, CCDS56059.1, CCDS59308.1	18q12	2010-05-04			ENSG00000101746	ENSG00000101746			7870	protein-coding gene	gene with protein product	"""cancer/testis antigen 125"""	603577				9813152	Standard	NM_003787		Approved	NOLP, HRIHFB2255, CT125	uc010dmi.3	O94818	OTTHUMG00000132291	ENST00000261592.5:c.898G>A	18.37:g.31599440C>T	ENSP00000261592:p.Asp300Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	B4DSQ0|B7Z3Z7|F5H1E3|Q6IBS2|Q9BWF1	Missense_Mutation	SNP	NULL	p.D300N	ENST00000261592.5	37	c.898	CCDS11907.2	18	.	.	.	.	.	.	.	.	.	.	C	19.34	3.808411	0.70797	.	.	ENSG00000101746	ENST00000261592;ENST00000269185;ENST00000399171;ENST00000535384;ENST00000535475;ENST00000538587	D;D;D;D;D	0.83755	-1.76;-1.76;-1.76;-1.76;-1.76	5.61	5.61	0.85477	.	0.594341	0.17110	N	0.186642	T	0.81283	0.4790	L	0.29908	0.895	0.38834	D	0.955912	P;B;P;P;P;P;B;B	0.50369	0.73;0.449;0.934;0.493;0.493;0.934;0.135;0.277	B;B;P;B;B;P;B;B	0.46452	0.208;0.205;0.517;0.234;0.157;0.517;0.084;0.133	D	0.83771	0.0220	10	0.59425	D	0.04	-2.9526	19.6551	0.95832	0.0:1.0:0.0:0.0	.	186;49;15;226;300;15;300;145	B4DLW2;F8W825;B7Z3Z7;B4DSQ0;O94818;F5H1E3;O94818-2;B3KRF4	.;.;.;.;NOL4_HUMAN;.;.;.	N	300;186;49;15;145;226	ENSP00000261592:D300N;ENSP00000269185:D186N;ENSP00000445733:D15N;ENSP00000438190:D145N;ENSP00000443472:D226N	ENSP00000261592:D300N	D	-	1	0	NOL4	29853438	1.000000	0.71417	0.980000	0.43619	0.982000	0.71751	5.669000	0.68081	2.650000	0.89964	0.637000	0.83480	GAT	NOL4	-	NULL		0.488	NOL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOL4	HGNC	protein_coding	OTTHUMT00000255386.1	C	NM_003787		31599440	-1	no_errors	ENST00000261592	ensembl	human	known	70_37	missense	SNP	1.000	T
NOL9	79707	genome.wustl.edu	37	1	6586036	6586036	+	Missense_Mutation	SNP	C	C	T			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr1:6586036C>T	ENST00000377705.5	-	12	2019	c.1987G>A	c.(1987-1989)Gtc>Atc	p.V663I		NM_024654.4	NP_078930	Q5SY16	NOL9_HUMAN	nucleolar protein 9	663					maturation of 5.8S rRNA (GO:0000460)	membrane (GO:0016020)|nucleolus (GO:0005730)	ATP binding (GO:0005524)|polynucleotide 5'-hydroxyl-kinase activity (GO:0051731)|RNA binding (GO:0003723)			central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(2)|lung(9)|skin(2)|urinary_tract(1)	19	Ovarian(185;0.0212)|all_lung(157;0.154)	all_cancers(23;2.46e-35)|all_epithelial(116;1.41e-22)|all_lung(118;7.59e-07)|Lung NSC(185;4.28e-06)|Colorectal(325;4.52e-05)|Breast(487;0.000353)|Renal(390;0.0007)|Hepatocellular(190;0.00308)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0443)		Colorectal(212;1.47e-07)|COAD - Colon adenocarcinoma(227;1.47e-05)|Kidney(185;5.27e-05)|KIRC - Kidney renal clear cell carcinoma(229;0.000971)|BRCA - Breast invasive adenocarcinoma(365;0.00113)|STAD - Stomach adenocarcinoma(132;0.0017)|READ - Rectum adenocarcinoma(331;0.0649)		TCCGTTGTGACATAAGGTACT	0.468																																																	0													131.0	126.0	128.0					1																	6586036		2203	4300	6503	SO:0001583	missense	79707			AK091284	CCDS80.1	1p36.31	2012-05-02			ENSG00000162408	ENSG00000162408			26265	protein-coding gene	gene with protein product	"""polynucleotide 5'-kinase"""					21063389	Standard	NM_024654		Approved	FLJ23323, NET6, Grc3	uc001ans.3	Q5SY16	OTTHUMG00000000904	ENST00000377705.5:c.1987G>A	1.37:g.6586036C>T	ENSP00000366934:p.Val663Ile	Somatic		WXS	Illumina HiSeq	Phase_IV	Q2NL84|Q4VBY3|Q6P472|Q7L4D6|Q96EE0|Q9H5L4	Missense_Mutation	SNP	pfam_Pre-mRNA_cleavage_cplxII_Clp1	p.V663I	ENST00000377705.5	37	c.1987	CCDS80.1	1	.	.	.	.	.	.	.	.	.	.	C	8.935	0.964465	0.18583	.	.	ENSG00000162408	ENST00000377705	T	0.24350	1.86	5.29	-1.4	0.08968	.	0.325856	0.28067	N	0.016740	T	0.10895	0.0266	N	0.19112	0.55	0.27361	N	0.955972	B	0.17465	0.022	B	0.12156	0.007	T	0.29150	-1.0021	10	0.13470	T	0.59	-13.8617	5.1166	0.14838	0.0:0.4366:0.1435:0.4199	.	663	Q5SY16	NOL9_HUMAN	I	663	ENSP00000366934:V663I	ENSP00000366934:V663I	V	-	1	0	NOL9	6508623	0.001000	0.12720	0.152000	0.22495	0.448000	0.32197	-0.613000	0.05610	-0.217000	0.10033	0.655000	0.94253	GTC	NOL9	-	NULL		0.468	NOL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOL9	HGNC	protein_coding	OTTHUMT00000002625.1	C	NM_024654		6586036	-1	no_errors	ENST00000377705	ensembl	human	known	70_37	missense	SNP	0.455	T
NOP9	161424	genome.wustl.edu	37	14	24774255	24774255	+	Missense_Mutation	SNP	C	C	T			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr14:24774255C>T	ENST00000267425.3	+	10	1958	c.1865C>T	c.(1864-1866)gCg>gTg	p.A622V	NOP9_ENST00000396802.3_3'UTR	NM_174913.1	NP_777573.1	Q86U38	NOP9_HUMAN	NOP9 nucleolar protein	622							poly(A) RNA binding (GO:0044822)										CAGCAGGGTGCGGTGGCCAAG	0.572																																																	0													47.0	43.0	44.0					14																	24774255		2203	4300	6503	SO:0001583	missense	161424				CCDS9624.1, CCDS66616.1	14q12	2012-12-10	2012-12-10	2012-06-06	ENSG00000196943	ENSG00000196943			19826	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 21"", ""NOP9 nucleolar protein homolog (yeast)"""	C14orf21		21653694	Standard	XM_005267385		Approved		uc001wol.1	Q86U38	OTTHUMG00000029342	ENST00000267425.3:c.1865C>T	14.37:g.24774255C>T	ENSP00000267425:p.Ala622Val	Somatic		WXS	Illumina HiSeq	Phase_IV	A8MY76|Q8IVF0|Q8TBS6	Missense_Mutation	SNP	superfamily_ARM-type_fold,smart_Pumilio_RNA-bd_rpt	p.A622V	ENST00000267425.3	37	c.1865	CCDS9624.1	14	.	.	.	.	.	.	.	.	.	.	C	18.16	3.563101	0.65538	.	.	ENSG00000196943	ENST00000267425;ENST00000544934	T	0.33654	1.4	5.75	4.86	0.63082	.	0.251124	0.38326	N	0.001740	T	0.21227	0.0511	N	0.19112	0.55	0.80722	D	1	B	0.33739	0.422	B	0.22753	0.041	T	0.05273	-1.0895	10	0.38643	T	0.18	-1.7554	11.8566	0.52441	0.0:0.9183:0.0:0.0817	.	622	Q86U38	CN021_HUMAN	V	622;173	ENSP00000267425:A622V	ENSP00000267425:A622V	A	+	2	0	C14orf21	23844095	0.979000	0.34478	0.321000	0.25320	0.995000	0.86356	2.780000	0.47742	1.436000	0.47453	0.655000	0.94253	GCG	NOP9	-	NULL		0.572	NOP9-004	KNOWN	basic|appris_principal|CCDS	protein_coding	NOP9	HGNC	protein_coding	OTTHUMT00000073186.2	C			24774255	+1	no_errors	ENST00000267425	ensembl	human	known	70_37	missense	SNP	0.901	T
NOTCH2	4853	genome.wustl.edu	37	1	120539657	120539657	+	Missense_Mutation	SNP	C	C	G			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr1:120539657C>G	ENST00000256646.2	-	4	933	c.714G>C	c.(712-714)caG>caC	p.Q238H	NOTCH2_ENST00000602566.1_Missense_Mutation_p.Q199H	NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN	notch 2	238	EGF-like 6. {ECO:0000255|PROSITE- ProRule:PRU00076}.				apoptotic process (GO:0006915)|atrial septum morphogenesis (GO:0060413)|bone remodeling (GO:0046849)|cell cycle arrest (GO:0007050)|cell fate determination (GO:0001709)|cell growth (GO:0016049)|ciliary body morphogenesis (GO:0061073)|determination of left/right symmetry (GO:0007368)|embryonic limb morphogenesis (GO:0030326)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|humoral immune response (GO:0006959)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|intracellular receptor signaling pathway (GO:0030522)|morphogenesis of an epithelial sheet (GO:0002011)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|placenta blood vessel development (GO:0060674)|positive regulation of apoptotic process (GO:0043065)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cell proliferation (GO:0008284)|positive regulation of Ras protein signal transduction (GO:0046579)|pulmonary valve morphogenesis (GO:0003184)|regulation of transcription, DNA-templated (GO:0006355)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell surface (GO:0009986)|cilium (GO:0005929)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|ligand-activated RNA polymerase II transcription factor binding transcription factor activity (GO:0038049)|receptor activity (GO:0004872)			breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		AGTCACCAGTCTGCCGACAGG	0.572			"""N, F, Mis"""		"""marginal zone lymphoma, DLBCL"""				Alagille Syndrome																															Dom	yes		1	1p13-p11	4853	Notch homolog 2		L	0													39.0	32.0	34.0					1																	120539657		2202	4300	6502	SO:0001583	missense	4853	Familial Cancer Database	ALGS1, ALGS2.Alagille-Watson syndrome	AF315356	CCDS908.1	1p13-p11	2013-01-10	2010-06-24		ENSG00000134250	ENSG00000134250		"""Ankyrin repeat domain containing"""	7882	protein-coding gene	gene with protein product		600275	"""Notch (Drosophila) homolog 2"", ""Notch homolog 2 (Drosophila)"""			7698746	Standard	NM_001200001		Approved		uc001eik.3	Q04721	OTTHUMG00000012177	ENST00000256646.2:c.714G>C	1.37:g.120539657C>G	ENSP00000256646:p.Gln238His	Somatic		WXS	Illumina HiSeq	Phase_IV	Q5T3X7|Q99734|Q9H240	Missense_Mutation	SNP	pirsf_Notch,pfam_EG-like_dom,pfam_EGF-like_Ca-bd,pfam_Ankyrin_rpt,pfam_Notch_NOD_dom,pfam_DUF3454_notch,pfam_Notch_NODP_dom,pfam_EGF_extracell,superfamily_Ankyrin_rpt-contain_dom,superfamily_Notch_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_Notch_dom,smart_Ankyrin_rpt,prints_Notch_2,prints_Notch_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom	p.Q238H	ENST00000256646.2	37	c.714	CCDS908.1	1	.	.	.	.	.	.	.	.	.	.	C	17.46	3.394902	0.62066	.	.	ENSG00000134250	ENST00000256646;ENST00000539617;ENST00000401649;ENST00000369342	D	0.87491	-2.26	5.83	3.89	0.44902	Epidermal growth factor-like (1);Epidermal growth factor-like, type 3 (1);	0.000000	0.35970	U	0.002865	D	0.83608	0.5291	L	0.28649	0.875	0.58432	D	0.999994	D;D;D	0.89917	0.997;0.996;1.0	D;D;D	0.83275	0.991;0.995;0.996	D	0.84308	0.0509	10	0.52906	T	0.07	.	8.2026	0.31434	0.0:0.7104:0.0:0.2896	.	199;238;238	D2WEZ3;Q6IQ50;Q04721	.;.;NOTC2_HUMAN	H	238;199;211;199	ENSP00000256646:Q238H	ENSP00000256646:Q238H	Q	-	3	2	NOTCH2	120341180	0.998000	0.40836	1.000000	0.80357	0.990000	0.78478	0.693000	0.25497	0.721000	0.32231	0.585000	0.79938	CAG	NOTCH2	-	pirsf_Notch,smart_EG-like_dom,smart_EGF-like_Ca-bd,pfscan_EG-like_dom		0.572	NOTCH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOTCH2	HGNC	protein_coding	OTTHUMT00000033679.1	C	NM_024408		120539657	-1	no_errors	ENST00000256646	ensembl	human	known	70_37	missense	SNP	1.000	G
NOTCH4	4855	genome.wustl.edu	37	6	32169256	32169256	+	Silent	SNP	G	G	A			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr6:32169256G>A	ENST00000375023.3	-	22	3915	c.3777C>T	c.(3775-3777)tgC>tgT	p.C1259C		NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN	notch 4	1259					cell differentiation (GO:0030154)|cell fate determination (GO:0001709)|embryo development (GO:0009790)|endothelial cell morphogenesis (GO:0001886)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|mammary gland development (GO:0030879)|morphogenesis of a branching structure (GO:0001763)|negative regulation of cell differentiation (GO:0045596)|negative regulation of endothelial cell differentiation (GO:0045602)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|patterning of blood vessels (GO:0001569)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|protein heterodimerization activity (GO:0046982)|receptor activity (GO:0004872)	p.C1259*(1)		NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						AGTGATCATGGCAGTACTGGT	0.537																																																	1	Substitution - Nonsense(1)	lung(1)											73.0	73.0	73.0					6																	32169256		1508	2709	4217	SO:0001819	synonymous_variant	4855				CCDS34420.1	6p21.3	2013-01-10	2010-06-24		ENSG00000204301	ENSG00000204301		"""Ankyrin repeat domain containing"""	7884	protein-coding gene	gene with protein product		164951	"""Notch (Drosophila) homolog 4"", ""Notch homolog 4 (Drosophila)"""	INT3		7835890	Standard	NM_004557		Approved		uc003obb.3	Q99466	OTTHUMG00000031044	ENST00000375023.3:c.3777C>T	6.37:g.32169256G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	B0V183|B0V1X5|O00306|Q5SSY7|Q99458|Q99940|Q9H3S8|Q9UII9|Q9UIJ0	Silent	SNP	pfam_EG-like_dom,pfam_Ankyrin_rpt,pfam_EGF-like_Ca-bd,pfam_Notch_dom,pfam_Notch_NODP_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_Notch_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_Notch_dom,smart_Ankyrin_rpt,pirsf_Notch,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom,prints_Notch_4,prints_Notch_dom	p.C1259	ENST00000375023.3	37	c.3777	CCDS34420.1	6																																																																																			NOTCH4	-	pfam_Notch_dom,superfamily_Notch_dom,smart_Notch_dom,pirsf_Notch,pfscan_Notch_dom		0.537	NOTCH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOTCH4	HGNC	protein_coding	OTTHUMT00000076045.2	G			32169256	-1	no_errors	ENST00000375023	ensembl	human	known	70_37	silent	SNP	1.000	A
NPEPPS	9520	genome.wustl.edu	37	17	45679078	45679078	+	Missense_Mutation	SNP	G	G	T			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr17:45679078G>T	ENST00000322157.4	+	15	1942	c.1705G>T	c.(1705-1707)Gtt>Ttt	p.V569F	NPEPPS_ENST00000544660.1_Missense_Mutation_p.V489F|RP11-580I16.2_ENST00000582389.1_RNA|NPEPPS_ENST00000530173.1_Missense_Mutation_p.V565F|RP11-580I16.2_ENST00000582066.1_RNA	NM_006310.3	NP_006301.3	P55786	PSA_HUMAN	aminopeptidase puromycin sensitive	569					antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular response to hypoxia (GO:0071456)|protein polyubiquitination (GO:0000209)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(6)|lung(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	27						GATGAATGTGGTTTTGAAAAA	0.398																																																	0													112.0	109.0	110.0					17																	45679078		1849	4089	5938	SO:0001583	missense	9520			Y07701	CCDS45721.1	17q12-q21	2008-07-18			ENSG00000141279	ENSG00000141279	3.4.11.2		7900	protein-coding gene	gene with protein product	"""puromycin-sensitive aminopeptidase"", ""metalloproteinase MP100"""	606793				9048733, 10329370	Standard	NM_006310		Approved	PSA, MP100	uc002ilr.4	P55786	OTTHUMG00000165471	ENST00000322157.4:c.1705G>T	17.37:g.45679078G>T	ENSP00000320324:p.Val569Phe	Somatic		WXS	Illumina HiSeq	Phase_IV	B7Z463|Q6P145|Q9NP16|Q9UEM2	Missense_Mutation	SNP	pfam_Peptidase_M1_N,prints_Peptidase_M1_N	p.V569F	ENST00000322157.4	37	c.1705	CCDS45721.1	17	.	.	.	.	.	.	.	.	.	.	G	13.55	2.271389	0.40194	.	.	ENSG00000141279	ENST00000530173;ENST00000322157;ENST00000539572;ENST00000544660	T;T;T	0.01464	4.99;4.99;4.86	5.23	0.163	0.14986	.	0.655767	0.16532	N	0.210326	T	0.02727	0.0082	M	0.69823	2.125	0.38976	D	0.958847	B;B	0.18610	0.029;0.014	B;B	0.16289	0.015;0.015	T	0.32481	-0.9905	10	0.62326	D	0.03	.	7.4654	0.27318	0.1831:0.2525:0.5644:0.0	.	565;569	E9PLK3;P55786	.;PSA_HUMAN	F	565;569;556;489	ENSP00000433287:V565F;ENSP00000320324:V569F;ENSP00000442461:V489F	ENSP00000320324:V569F	V	+	1	0	NPEPPS	43034077	1.000000	0.71417	0.999000	0.59377	0.998000	0.95712	1.387000	0.34430	0.165000	0.19558	0.561000	0.74099	GTT	NPEPPS	-	NULL		0.398	NPEPPS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NPEPPS	HGNC	protein_coding	OTTHUMT00000384269.1	G	NM_006310		45679078	+1	no_errors	ENST00000322157	ensembl	human	known	70_37	missense	SNP	0.994	T
NPR1	4881	genome.wustl.edu	37	1	153661549	153661549	+	Missense_Mutation	SNP	G	G	T			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr1:153661549G>T	ENST00000368680.3	+	16	3010	c.2538G>T	c.(2536-2538)gaG>gaT	p.E846D		NM_000906.3	NP_000897.3	P16066	ANPRA_HUMAN	natriuretic peptide receptor 1	846					body fluid secretion (GO:0007589)|cell surface receptor signaling pathway (GO:0007166)|cGMP biosynthetic process (GO:0006182)|dopamine metabolic process (GO:0042417)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell growth (GO:0030308)|negative regulation of smooth muscle cell proliferation (GO:0048662)|positive regulation of cGMP biosynthetic process (GO:0030828)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of urine volume (GO:0035810)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of blood pressure (GO:0008217)|regulation of blood vessel size (GO:0050880)|regulation of vascular permeability (GO:0043114)|regulation of vasodilation (GO:0042312)	integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|G-protein coupled peptide receptor activity (GO:0008528)|GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|hormone binding (GO:0042562)|natriuretic peptide receptor activity (GO:0016941)|peptide hormone binding (GO:0017046)|protein kinase activity (GO:0004672)			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(17)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	42	all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)		Amyl Nitrite(DB01612)|Erythrityl Tetranitrate(DB01613)|Isosorbide Dinitrate(DB00883)|Nesiritide(DB04899)|Nitroglycerin(DB00727)|Nitroprusside(DB00325)	GCAAGGCTGAGGCCCTGCTCT	0.622																																					Pancreas(141;1349 1870 15144 15830 40702)												0													129.0	117.0	121.0					1																	153661549		2203	4300	6503	SO:0001583	missense	4881			BC063304	CCDS1051.1	1q21-q22	2014-03-03	2014-03-03		ENSG00000169418	ENSG00000169418			7943	protein-coding gene	gene with protein product	"""guanylate cyclase A"""	108960	"""atrionatriuretic peptide receptor A"", ""natriuretic peptide receptor A"""	ANPRA, NPRA		1979052	Standard	NM_000906		Approved	GUCY2A, ANPa	uc001fcs.4	P16066	OTTHUMG00000037085	ENST00000368680.3:c.2538G>T	1.37:g.153661549G>T	ENSP00000357669:p.Glu846Asp	Somatic		WXS	Illumina HiSeq	Phase_IV	B0ZBF0|Q5SR08|Q6P4Q3	Missense_Mutation	SNP	pfam_A/G_cyclase,pfam_ANF_lig-bd_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_A/G_cyclase,superfamily_Kinase-like_dom,smart_Tyr_kinase_cat_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_A/G_cyclase,pfscan_Prot_kinase_cat_dom,pfscan_A/G_cyclase,prints_Ntpep_rcpt	p.E846D	ENST00000368680.3	37	c.2538	CCDS1051.1	1	.	.	.	.	.	.	.	.	.	.	G	14.63	2.592182	0.46214	.	.	ENSG00000169418	ENST00000368680;ENST00000428723;ENST00000368677	D	0.83335	-1.71	3.35	2.43	0.29744	Adenylyl cyclase class-3/4/guanylyl cyclase (1);	0.067482	0.56097	D	0.000030	T	0.56077	0.1961	L	0.31526	0.94	0.54753	D	0.999988	P;P	0.49307	0.553;0.922	B;B	0.42653	0.32;0.394	T	0.56390	-0.7987	10	0.12766	T	0.61	.	8.8927	0.35444	0.1145:0.0:0.8855:0.0	.	325;846	B7Z4Y7;P16066	.;ANPRA_HUMAN	D	846;325;27	ENSP00000357669:E846D	ENSP00000357666:E27D	E	+	3	2	NPR1	151928173	1.000000	0.71417	1.000000	0.80357	0.636000	0.38137	2.476000	0.45171	0.990000	0.38787	0.455000	0.32223	GAG	NPR1	-	smart_A/G_cyclase		0.622	NPR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NPR1	HGNC	protein_coding	OTTHUMT00000090034.1	G	NM_000906		153661549	+1	no_errors	ENST00000368680	ensembl	human	known	70_37	missense	SNP	1.000	T
NPR1	4881	genome.wustl.edu	37	1	153665869	153665869	+	Silent	SNP	G	G	A			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr1:153665869G>A	ENST00000368680.3	+	22	3637	c.3165G>A	c.(3163-3165)agG>agA	p.R1055R		NM_000906.3	NP_000897.3	P16066	ANPRA_HUMAN	natriuretic peptide receptor 1	1055					body fluid secretion (GO:0007589)|cell surface receptor signaling pathway (GO:0007166)|cGMP biosynthetic process (GO:0006182)|dopamine metabolic process (GO:0042417)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell growth (GO:0030308)|negative regulation of smooth muscle cell proliferation (GO:0048662)|positive regulation of cGMP biosynthetic process (GO:0030828)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of urine volume (GO:0035810)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of blood pressure (GO:0008217)|regulation of blood vessel size (GO:0050880)|regulation of vascular permeability (GO:0043114)|regulation of vasodilation (GO:0042312)	integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|G-protein coupled peptide receptor activity (GO:0008528)|GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|hormone binding (GO:0042562)|natriuretic peptide receptor activity (GO:0016941)|peptide hormone binding (GO:0017046)|protein kinase activity (GO:0004672)			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(17)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	42	all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)		Amyl Nitrite(DB01612)|Erythrityl Tetranitrate(DB01613)|Isosorbide Dinitrate(DB00883)|Nesiritide(DB04899)|Nitroglycerin(DB00727)|Nitroprusside(DB00325)	TTGGGGAGAGGGGGAGTAGCA	0.617																																					Pancreas(141;1349 1870 15144 15830 40702)												0													72.0	71.0	71.0					1																	153665869		2203	4300	6503	SO:0001819	synonymous_variant	4881			BC063304	CCDS1051.1	1q21-q22	2014-03-03	2014-03-03		ENSG00000169418	ENSG00000169418			7943	protein-coding gene	gene with protein product	"""guanylate cyclase A"""	108960	"""atrionatriuretic peptide receptor A"", ""natriuretic peptide receptor A"""	ANPRA, NPRA		1979052	Standard	NM_000906		Approved	GUCY2A, ANPa	uc001fcs.4	P16066	OTTHUMG00000037085	ENST00000368680.3:c.3165G>A	1.37:g.153665869G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	B0ZBF0|Q5SR08|Q6P4Q3	Silent	SNP	pfam_A/G_cyclase,pfam_ANF_lig-bd_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_A/G_cyclase,superfamily_Kinase-like_dom,smart_Tyr_kinase_cat_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_A/G_cyclase,pfscan_Prot_kinase_cat_dom,pfscan_A/G_cyclase,prints_Ntpep_rcpt	p.R1055	ENST00000368680.3	37	c.3165	CCDS1051.1	1																																																																																			NPR1	-	NULL		0.617	NPR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NPR1	HGNC	protein_coding	OTTHUMT00000090034.1	G	NM_000906		153665869	+1	no_errors	ENST00000368680	ensembl	human	known	70_37	silent	SNP	0.975	A
NR1H3	10062	genome.wustl.edu	37	11	47281001	47281001	+	Intron	SNP	G	G	A	rs373539637		TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr11:47281001G>A	ENST00000467728.1	+	1	1281				NR1H3_ENST00000395397.3_Intron|NR1H3_ENST00000529540.1_Intron|NR1H3_ENST00000405853.3_Intron|NR1H3_ENST00000407404.1_Intron|NR1H3_ENST00000527949.1_5'Flank|NR1H3_ENST00000405576.1_Intron|NR1H3_ENST00000481889.2_Intron|NR1H3_ENST00000441012.2_Intron			Q13133	NR1H3_HUMAN	nuclear receptor subfamily 1, group H, member 3						apoptotic cell clearance (GO:0043277)|cellular lipid metabolic process (GO:0044255)|cellular response to lipopolysaccharide (GO:0071222)|cholesterol homeostasis (GO:0042632)|gene expression (GO:0010467)|lipid homeostasis (GO:0055088)|negative regulation of cholesterol storage (GO:0010887)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interferon-gamma-mediated signaling pathway (GO:0060336)|negative regulation of lipid transport (GO:0032369)|negative regulation of macrophage activation (GO:0043031)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|negative regulation of pancreatic juice secretion (GO:0090188)|negative regulation of pinocytosis (GO:0048550)|negative regulation of proteolysis (GO:0045861)|negative regulation of secretion of lysosomal enzymes (GO:0090341)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of cholesterol homeostasis (GO:2000189)|positive regulation of cholesterol transport (GO:0032376)|positive regulation of fatty acid biosynthetic process (GO:0045723)|positive regulation of lipoprotein lipase activity (GO:0051006)|positive regulation of receptor biosynthetic process (GO:0010870)|positive regulation of toll-like receptor 4 signaling pathway (GO:0034145)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of triglyceride biosynthetic process (GO:0010867)|regulation of cholesterol homeostasis (GO:2000188)|regulation of circadian rhythm (GO:0042752)|response to progesterone (GO:0032570)|sterol homeostasis (GO:0055092)|transcription initiation from RNA polymerase II promoter (GO:0006367)|triglyceride homeostasis (GO:0070328)	nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	cholesterol binding (GO:0015485)|DNA binding (GO:0003677)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|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 positive regulation of transcription (GO:0001077)|steroid hormone receptor activity (GO:0003707)|sterol response element binding (GO:0032810)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(2)|large_intestine(6)|lung(6)|ovary(5)	20						GCAGGCACCCGCCCAGTCCTC	0.562											OREG0020956	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0																																										SO:0001627	intron_variant	10062			U22662	CCDS7929.1, CCDS44584.1, CCDS44585.1, CCDS73285.1	11p11.2	2013-01-16			ENSG00000025434	ENSG00000025434		"""Nuclear hormone receptors"""	7966	protein-coding gene	gene with protein product	"""liver X receptor-alpha"""	602423				8621574, 7744246	Standard	NM_005693		Approved	LXR-a, RLD-1	uc009ylm.3	Q13133	OTTHUMG00000150628	ENST00000467728.1:c.43+191G>A	11.37:g.47281001G>A		Somatic	945	WXS	Illumina HiSeq	Phase_IV	A8K3J9|D3DQR1|Q8IW13|Q96H87	Missense_Mutation	SNP	NULL	p.A45T	ENST00000467728.1	37	c.133	CCDS7929.1	11																																																																																			NR1H3	-	NULL		0.562	NR1H3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NR1H3	HGNC	protein_coding	OTTHUMT00000319214.3	G			47281001	+1	no_errors	ENST00000419652	ensembl	human	known	70_37	missense	SNP	0.000	A
NRD1	4898	genome.wustl.edu	37	1	52305911	52305912	+	Frame_Shift_Ins	INS	-	-	T	rs372511102		TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr1:52305911_52305912insT	ENST00000354831.7	-	2	805_806	c.616_617insA	c.(616-618)actfs	p.T206fs	NRD1_ENST00000539524.1_Frame_Shift_Ins_p.T74fs|NRD1_ENST00000485608.1_5'UTR|NRD1_ENST00000544028.1_Frame_Shift_Ins_p.T74fs|NRD1_ENST00000352171.7_Frame_Shift_Ins_p.T206fs	NM_002525.2	NP_002516.2	O43847	NRDC_HUMAN	nardilysin (N-arginine dibasic convertase)	0					cell migration (GO:0016477)|cell proliferation (GO:0008283)|neuromuscular junction development (GO:0007528)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|proteolysis (GO:0006508)|regulation of endopeptidase activity (GO:0052548)	cell surface (GO:0009986)|cytosol (GO:0005829)	epidermal growth factor binding (GO:0048408)|metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(6)|lung(9)|pancreas(1)|prostate(1)|skin(1)	27						TTTTTCAGTAGTTTTTTTTCTA	0.332																																																	0																																										SO:0001589	frameshift_variant	4898			X93207	CCDS559.1, CCDS41335.1, CCDS55599.1	1p32.2-p32.1	2008-07-18			ENSG00000078618	ENSG00000078618			7995	protein-coding gene	gene with protein product		602651				9581555, 9479496	Standard	NM_002525		Approved	hNRD1, hNRD2	uc001ctc.4	O43847	OTTHUMG00000008278	ENST00000354831.7:c.617dupA	1.37:g.52305919_52305919dupT	ENSP00000346890:p.Thr206fs	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NI41|O15241|O15242|Q5VUL0|Q96HB2|Q9NU57	Frame_Shift_Ins	INS	pfam_Pept_M16_N,pfam_Peptidase_M16_C,superfamily_Metalloenz_metal-bd	p.T206fs	ENST00000354831.7	37	c.617_616	CCDS559.1	1																																																																																			NRD1	-	superfamily_Metalloenz_metal-bd		0.332	NRD1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NRD1	HGNC	protein_coding	OTTHUMT00000023045.1	-	NM_002525		52305912	-1	no_errors	ENST00000354831	ensembl	human	known	70_37	frame_shift_ins	INS	1.000:1.000	T
NRIP1	8204	genome.wustl.edu	37	21	16337835	16337835	+	Silent	SNP	G	G	T			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr21:16337835G>T	ENST00000400202.1	-	3	3391	c.2679C>A	c.(2677-2679)tcC>tcA	p.S893S	NRIP1_ENST00000400199.1_Silent_p.S893S|AF127577.10_ENST00000446301.1_RNA|NRIP1_ENST00000318948.4_Silent_p.S893S			P48552	NRIP1_HUMAN	nuclear receptor interacting protein 1	893	Interaction with ZNF366.				androgen receptor signaling pathway (GO:0030521)|lipid storage (GO:0019915)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|ovarian follicle rupture (GO:0001543)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|histone deacetylase complex (GO:0000118)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|estrogen receptor binding (GO:0030331)|glucocorticoid receptor binding (GO:0035259)|nuclear hormone receptor binding (GO:0035257)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			cervix(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(13)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	39				Epithelial(23;1.19e-05)|all cancers(11;4.64e-05)|COAD - Colon adenocarcinoma(22;0.000232)|Colorectal(24;0.0006)|OV - Ovarian serous cystadenocarcinoma(11;0.00418)|Lung(58;0.199)|LUSC - Lung squamous cell carcinoma(23;0.24)		GGTTAAGCAAGGACCCATACA	0.403																																																	0													130.0	129.0	129.0					21																	16337835		2203	4299	6502	SO:0001819	synonymous_variant	8204			X84373	CCDS13568.1	21q11.2	2008-07-31			ENSG00000180530	ENSG00000180530			8001	protein-coding gene	gene with protein product	"""receptor interacting protein 140"", ""nuclear factor RIP140"""	602490				7641693, 9521594	Standard	NM_003489		Approved	RIP140	uc002yjx.2	P48552	OTTHUMG00000074323	ENST00000400202.1:c.2679C>A	21.37:g.16337835G>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q8IWE8	Silent	SNP	NULL	p.S893	ENST00000400202.1	37	c.2679	CCDS13568.1	21																																																																																			NRIP1	-	NULL		0.403	NRIP1-002	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	NRIP1	HGNC	protein_coding	OTTHUMT00000157926.1	G	NM_003489		16337835	-1	no_errors	ENST00000318948	ensembl	human	known	70_37	silent	SNP	0.019	T
NRIP1	8204	genome.wustl.edu	37	21	16339364	16339364	+	Missense_Mutation	SNP	G	G	A			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr21:16339364G>A	ENST00000400202.1	-	3	1862	c.1150C>T	c.(1150-1152)Ctt>Ttt	p.L384F	NRIP1_ENST00000400199.1_Missense_Mutation_p.L384F|AF127577.10_ENST00000446301.1_RNA|NRIP1_ENST00000318948.4_Missense_Mutation_p.L384F			P48552	NRIP1_HUMAN	nuclear receptor interacting protein 1	384	Interaction with ZNF366.				androgen receptor signaling pathway (GO:0030521)|lipid storage (GO:0019915)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|ovarian follicle rupture (GO:0001543)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|histone deacetylase complex (GO:0000118)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|estrogen receptor binding (GO:0030331)|glucocorticoid receptor binding (GO:0035259)|nuclear hormone receptor binding (GO:0035257)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			cervix(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(13)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	39				Epithelial(23;1.19e-05)|all cancers(11;4.64e-05)|COAD - Colon adenocarcinoma(22;0.000232)|Colorectal(24;0.0006)|OV - Ovarian serous cystadenocarcinoma(11;0.00418)|Lung(58;0.199)|LUSC - Lung squamous cell carcinoma(23;0.24)		TGGCTTTTAAGAAGATGTAAA	0.363																																																	0													171.0	164.0	166.0					21																	16339364		2203	4299	6502	SO:0001583	missense	8204			X84373	CCDS13568.1	21q11.2	2008-07-31			ENSG00000180530	ENSG00000180530			8001	protein-coding gene	gene with protein product	"""receptor interacting protein 140"", ""nuclear factor RIP140"""	602490				7641693, 9521594	Standard	NM_003489		Approved	RIP140	uc002yjx.2	P48552	OTTHUMG00000074323	ENST00000400202.1:c.1150C>T	21.37:g.16339364G>A	ENSP00000383063:p.Leu384Phe	Somatic		WXS	Illumina HiSeq	Phase_IV	Q8IWE8	Missense_Mutation	SNP	NULL	p.L384F	ENST00000400202.1	37	c.1150	CCDS13568.1	21	.	.	.	.	.	.	.	.	.	.	G	21.5	4.153028	0.78001	.	.	ENSG00000180530	ENST00000400199;ENST00000400202;ENST00000318948	T;T;T	0.26067	1.76;1.76;1.76	6.02	6.02	0.97574	.	0.000000	0.85682	D	0.000000	T	0.51024	0.1650	L	0.58101	1.795	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.31613	-0.9937	10	0.49607	T	0.09	-1.9029	20.6048	0.99465	0.0:0.0:1.0:0.0	.	384	P48552	NRIP1_HUMAN	F	384	ENSP00000383060:L384F;ENSP00000383063:L384F;ENSP00000327213:L384F	ENSP00000327213:L384F	L	-	1	0	NRIP1	15261235	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.371000	0.79600	2.875000	0.98604	0.644000	0.83932	CTT	NRIP1	-	NULL		0.363	NRIP1-002	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	NRIP1	HGNC	protein_coding	OTTHUMT00000157926.1	G	NM_003489		16339364	-1	no_errors	ENST00000318948	ensembl	human	known	70_37	missense	SNP	1.000	A
NRXN1	9378	genome.wustl.edu	37	2	50148602	50148602	+	3'UTR	SNP	A	A	C			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr2:50148602A>C	ENST00000406316.2	-	0	6390				NRXN1_ENST00000342183.5_3'UTR|NRXN1_ENST00000404971.1_3'UTR|NRXN1_ENST00000401710.1_3'UTR	NM_004801.4	NP_004792.1	Q9ULB1	NRX1A_HUMAN	neurexin 1						adult behavior (GO:0030534)|axon guidance (GO:0007411)|calcium-dependent cell-cell adhesion (GO:0016339)|cerebellar granule cell differentiation (GO:0021707)|establishment of protein localization (GO:0045184)|extracellular matrix organization (GO:0030198)|gamma-aminobutyric acid receptor clustering (GO:0097112)|gephyrin clustering (GO:0097116)|guanylate kinase-associated protein clustering (GO:0097117)|heterophilic cell-cell adhesion (GO:0007157)|learning (GO:0007612)|N-methyl-D-aspartate receptor clustering (GO:0097114)|negative regulation of filopodium assembly (GO:0051490)|neuroligin clustering (GO:0097118)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|neuron maturation (GO:0042551)|neurotransmitter secretion (GO:0007269)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of synapse assembly (GO:0051965)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|postsynaptic density protein 95 clustering (GO:0097119)|postsynaptic membrane assembly (GO:0097104)|presynaptic membrane assembly (GO:0097105)|receptor localization to synapse (GO:0097120)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic vesicle clustering (GO:0097091)|vocal learning (GO:0042297)|vocalization behavior (GO:0071625)	axonal growth cone (GO:0044295)|cell junction (GO:0030054)|cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	acetylcholine receptor binding (GO:0033130)|calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|cell adhesion molecule binding (GO:0050839)|neuroligin family protein binding (GO:0097109)|receptor activity (GO:0004872)			breast(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	58		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.192)	Lung(47;0.0813)|LUSC - Lung squamous cell carcinoma(58;0.116)			CAAACTCTTAAAGGTTTGCAG	0.448																																																	0																																										SO:0001624	3_prime_UTR_variant	9378			AB011150	CCDS1845.1, CCDS46282.1, CCDS54360.1	2p16.3	2008-05-15			ENSG00000179915	ENSG00000179915			8008	protein-coding gene	gene with protein product		600565					Standard	NM_001135659		Approved	KIAA0578, Hs.22998	uc021vhj.1	P58400	OTTHUMG00000129263	ENST00000406316.2:c.*480T>G	2.37:g.50148602A>C		Somatic		WXS	Illumina HiSeq	Phase_IV	A7KRL9|O60323|Q53TJ9|Q53TQ1|Q9C079|Q9C080|Q9C081|Q9H3M2|Q9UDM6	RNA	SNP	-	NULL	ENST00000406316.2	37	NULL	CCDS54360.1	2																																																																																			NRXN1	-	-		0.448	NRXN1-001	KNOWN	basic|CCDS	protein_coding	NRXN1	HGNC	protein_coding	OTTHUMT00000325291.2	A			50148602	-1	no_errors	ENST00000484192	ensembl	human	known	70_37	rna	SNP	0.090	C
NUDT12	83594	genome.wustl.edu	37	5	102895902	102895902	+	Missense_Mutation	SNP	A	A	C			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr5:102895902A>C	ENST00000230792.2	-	2	144	c.48T>G	c.(46-48)ttT>ttG	p.F16L	NUDT12_ENST00000507423.1_Missense_Mutation_p.F16L	NM_031438.2	NP_113626.1	Q9BQG2	NUD12_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 12	16					NAD catabolic process (GO:0019677)|NADP catabolic process (GO:0006742)	nucleus (GO:0005634)|peroxisome (GO:0005777)	metal ion binding (GO:0046872)|NAD+ diphosphatase activity (GO:0000210)|NADH pyrophosphatase activity (GO:0035529)			endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(6)|urinary_tract(1)	12		all_cancers(142;6.38e-08)|all_epithelial(76;1.99e-10)|Prostate(80;0.0138)|Lung NSC(167;0.0212)|Colorectal(57;0.0247)|all_lung(232;0.0283)|Ovarian(225;0.0423)		Epithelial(69;9.3e-13)|COAD - Colon adenocarcinoma(37;0.0221)		CTGAACAGTGAAACTGAGTAA	0.373																																																	0													104.0	99.0	101.0					5																	102895902		2202	4300	6502	SO:0001583	missense	83594			AL136592	CCDS4096.1, CCDS75284.1	5q15	2013-01-10			ENSG00000112874	ENSG00000112874		"""Nudix motif containing"", ""Ankyrin repeat domain containing"""	18826	protein-coding gene	gene with protein product	"""nucleoside diphosphate linked moiety X-type motif 12"""	609232				11230166	Standard	XM_005272095		Approved	DKFZP761I172	uc003koi.3	Q9BQG2	OTTHUMG00000128739	ENST00000230792.2:c.48T>G	5.37:g.102895902A>C	ENSP00000230792:p.Phe16Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	B3KUW2|Q8TAL7	Missense_Mutation	SNP	pfam_NUDIX_hydrolase_dom,pfam_Ankyrin_rpt,pfam_Znr_NADH_PPase,pfam_NADH_PPase-like_N,superfamily_NUDIX_hydrolase_dom-like,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.F16L	ENST00000230792.2	37	c.48	CCDS4096.1	5	.	.	.	.	.	.	.	.	.	.	A	6.699	0.497658	0.12762	.	.	ENSG00000112874	ENST00000230792;ENST00000507423	T;T	0.09630	2.96;2.96	5.57	3.16	0.36331	Ankyrin repeat-containing domain (3);	0.150322	0.64402	N	0.000010	T	0.02848	0.0085	N	0.02751	-0.505	0.32427	N	0.548495	B;B	0.06786	0.001;0.001	B;B	0.09377	0.001;0.004	T	0.31806	-0.9930	10	0.07030	T	0.85	-12.4744	1.627	0.02725	0.5554:0.1562:0.1559:0.1324	.	16;16	E7EM93;Q9BQG2	.;NUD12_HUMAN	L	16	ENSP00000230792:F16L;ENSP00000424521:F16L	ENSP00000230792:F16L	F	-	3	2	NUDT12	102923801	1.000000	0.71417	0.995000	0.50966	0.909000	0.53808	1.510000	0.35790	0.382000	0.24878	0.528000	0.53228	TTT	NUDT12	-	superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom		0.373	NUDT12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUDT12	HGNC	protein_coding	OTTHUMT00000250650.1	A	NM_031438		102895902	-1	no_errors	ENST00000230792	ensembl	human	known	70_37	missense	SNP	1.000	C
NSD1	64324	genome.wustl.edu	37	5	176687130	176687130	+	Missense_Mutation	SNP	G	G	C			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr5:176687130G>C	ENST00000439151.2	+	14	5152	c.5107G>C	c.(5107-5109)Gag>Cag	p.E1703Q	NSD1_ENST00000347982.4_Missense_Mutation_p.E1434Q|NSD1_ENST00000354179.4_Missense_Mutation_p.E1434Q|NSD1_ENST00000361032.4_Missense_Mutation_p.E1600Q	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	1703					gastrulation with mouth forming second (GO:0001702)|histone H3-K36 methylation (GO:0010452)|histone H4-K20 methylation (GO:0034770)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|estrogen receptor binding (GO:0030331)|histone methyltransferase activity (H3-K36 specific) (GO:0046975)|histone methyltransferase activity (H4-K20 specific) (GO:0042799)|retinoic acid receptor binding (GO:0042974)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription cofactor activity (GO:0003712)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		CCGAAATCATGAGCATGTTAA	0.413			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)																														Dom	yes		5	5q35	64324	nuclear receptor binding SET domain protein 1	yes	L	0													72.0	68.0	69.0					5																	176687130		2203	4300	6503	SO:0001583	missense	64324	Familial Cancer Database	Weaver-Smith syndrome;Cerebral Gigantism;BWS, Exomphalos-Macroglossia-Gigantism (EMG) syndrome, Wiedemann-Beckwith syndrome, WBS	AK026066	CCDS4412.1, CCDS4413.1	5q35	2014-09-17	2003-03-12		ENSG00000165671	ENSG00000165671		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	14234	protein-coding gene	gene with protein product		606681	"""Sotos syndrome"""	STO		9628876, 11896389	Standard	NM_022455		Approved	ARA267, FLJ22263, KMT3B	uc003mfr.4	Q96L73	OTTHUMG00000130846	ENST00000439151.2:c.5107G>C	5.37:g.176687130G>C	ENSP00000395929:p.Glu1703Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	Q96PD8|Q96RN7	Missense_Mutation	SNP	pfam_PWWP,pfam_SET_dom,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_PWWP,smart_Znf_PHD,smart_AWS,smart_SET_dom,smart_Post-SET_dom,pfscan_AWS,pfscan_PWWP,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_PHD-finger	p.E1703Q	ENST00000439151.2	37	c.5107	CCDS4412.1	5	.	.	.	.	.	.	.	.	.	.	G	28.1	4.887047	0.91814	.	.	ENSG00000165671	ENST00000354179;ENST00000439151;ENST00000347982;ENST00000361032	D;D;D;D	0.95069	-3.6;-3.6;-3.6;-3.6	5.51	5.51	0.81932	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, FYVE/PHD-type (1);	0.000000	0.64402	D	0.000004	D	0.95928	0.8674	L	0.39326	1.205	0.54753	D	0.99998	D;D;B	0.76494	0.999;0.995;0.398	D;D;B	0.74023	0.982;0.941;0.303	D	0.95797	0.8829	10	0.54805	T	0.06	.	19.783	0.96424	0.0:0.0:1.0:0.0	.	1434;1600;1703	Q96L73-2;Q96L73-3;Q96L73	.;.;NSD1_HUMAN	Q	1434;1703;1434;1600	ENSP00000346111:E1434Q;ENSP00000395929:E1703Q;ENSP00000343209:E1434Q;ENSP00000354310:E1600Q	ENSP00000343209:E1434Q	E	+	1	0	NSD1	176619736	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.813000	0.99286	2.752000	0.94435	0.467000	0.42956	GAG	NSD1	-	superfamily_Znf_FYVE_PHD		0.413	NSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NSD1	HGNC	protein_coding	OTTHUMT00000253412.2	G	NM_172349		176687130	+1	no_errors	ENST00000439151	ensembl	human	known	70_37	missense	SNP	1.000	C
NUDT17	200035	genome.wustl.edu	37	1	145588598	145588598	+	Intron	SNP	C	C	T			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr1:145588598C>T	ENST00000334513.5	-	3	414				NUDT17_ENST00000444015.2_Intron	NM_001012758.2	NP_001012776.1	P0C025	NUD17_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 17								hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			endometrium(3)|large_intestine(1)|lung(2)|skin(1)|urinary_tract(2)	9	all_hematologic(18;0.0187)|Acute lymphoblastic leukemia(18;0.0786)					GTTGGATCAGCTGACTGGTTA	0.602											OREG0013751	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													80.0	70.0	73.0					1																	145588598		2203	4300	6503	SO:0001627	intron_variant	200035			BC046352	CCDS72865.1	1q21.1	2008-02-05			ENSG00000186364	ENSG00000186364		"""Nudix motif containing"""	26618	protein-coding gene	gene with protein product						12477932	Standard	NM_001012758		Approved	FLJ34433	uc001eoe.3	P0C025	OTTHUMG00000013752	ENST00000334513.5:c.402+11G>A	1.37:g.145588598C>T		Somatic	1695	WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000334513.5	37	NULL	CCDS30830.1	1																																																																																			NUDT17	-	-		0.602	NUDT17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUDT17	HGNC	protein_coding	OTTHUMT00000038541.3	C	XM_496395		145588598	-1	no_errors	ENST00000460879	ensembl	human	known	70_37	rna	SNP	0.000	T
NUP133	55746	genome.wustl.edu	37	1	229613359	229613359	+	Missense_Mutation	SNP	C	C	T			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr1:229613359C>T	ENST00000261396.3	-	13	1832	c.1741G>A	c.(1741-1743)Gag>Aag	p.E581K	NUP133_ENST00000537506.1_Missense_Mutation_p.E565K	NM_018230.2	NP_060700.2	Q8WUM0	NU133_HUMAN	nucleoporin 133kDa	581					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA export from nucleus (GO:0006406)|nuclear pore organization (GO:0006999)|paraxial mesoderm development (GO:0048339)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|kinetochore (GO:0000776)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)|nuclear pore outer ring (GO:0031080)	nucleocytoplasmic transporter activity (GO:0005487)			NS(1)|breast(7)|endometrium(1)|kidney(6)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(4)	56	Breast(184;0.104)|Ovarian(103;0.249)	Prostate(94;0.167)				GGGACAGACTCAGCCCACCGT	0.413																																																	0													76.0	70.0	72.0					1																	229613359		2203	4300	6503	SO:0001583	missense	55746				CCDS1579.1	1q42.13	2008-02-05	2002-08-29		ENSG00000069248	ENSG00000069248			18016	protein-coding gene	gene with protein product		607613	"""nucleoporin 133kD"""			11684705	Standard	NM_018230		Approved	FLJ10814	uc001htn.3	Q8WUM0	OTTHUMG00000039462	ENST00000261396.3:c.1741G>A	1.37:g.229613359C>T	ENSP00000261396:p.Glu581Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RAZ8|Q5T8N0|Q9H9W2|Q9NV71|Q9NVC4	Missense_Mutation	SNP	pfam_Nucleoporin_Nup133/Nup155_C,pfam_Nucleoporin_Nup133/Nup155_N	p.E581K	ENST00000261396.3	37	c.1741	CCDS1579.1	1	.	.	.	.	.	.	.	.	.	.	C	35	5.455535	0.96223	.	.	ENSG00000069248	ENST00000366681;ENST00000261396;ENST00000366679;ENST00000537506	T;T;T	0.26067	1.8;1.76;1.81	5.38	5.38	0.77491	.	0.000000	0.85682	D	0.000000	T	0.48277	0.1491	M	0.76328	2.33	0.80722	D	1	D	0.63880	0.993	P	0.59948	0.866	T	0.29212	-1.0019	10	0.21540	T	0.41	-11.3249	19.5077	0.95125	0.0:1.0:0.0:0.0	.	581	Q8WUM0	NU133_HUMAN	K	581;581;581;565	ENSP00000261396:E581K;ENSP00000355640:E581K;ENSP00000443496:E565K	ENSP00000261396:E581K	E	-	1	0	NUP133	227679982	1.000000	0.71417	0.998000	0.56505	0.991000	0.79684	7.445000	0.80570	2.683000	0.91414	0.655000	0.94253	GAG	NUP133	-	NULL		0.413	NUP133-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUP133	HGNC	protein_coding	OTTHUMT00000095224.1	C	NM_018230		229613359	-1	no_errors	ENST00000261396	ensembl	human	known	70_37	missense	SNP	1.000	T
NUP153	9972	genome.wustl.edu	37	6	17665574	17665574	+	Missense_Mutation	SNP	T	T	C			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr6:17665574T>C	ENST00000262077.2	-	9	1110	c.1111A>G	c.(1111-1113)Aag>Gag	p.K371E	NUP153_ENST00000537253.1_Missense_Mutation_p.K371E	NM_005124.2	NP_005115.2	P49790	NU153_HUMAN	nucleoporin 153kDa	371					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|negative regulation of RNA export from nucleus (GO:0046832)|nuclear pore complex assembly (GO:0051292)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral entry into host cell (GO:0046718)|viral penetration into host nucleus (GO:0075732)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|nucleocytoplasmic transporter activity (GO:0005487)|protein anchor (GO:0043495)|structural constituent of nuclear pore (GO:0017056)|transporter activity (GO:0005215)|zinc ion binding (GO:0008270)			NS(2)|breast(6)|endometrium(4)|kidney(3)|large_intestine(7)|lung(23)|ovary(3)|skin(3)|urinary_tract(2)	53	Breast(50;0.0259)|Ovarian(93;0.0584)	all_hematologic(90;0.125)	all cancers(50;0.0981)|Epithelial(50;0.112)			GAAACTGGCTTTGGGGTCATA	0.338																																																	0													114.0	109.0	111.0					6																	17665574		2203	4300	6503	SO:0001583	missense	9972			Z25535	CCDS4541.1, CCDS64359.1, CCDS75407.1	6p22.3	2008-07-29	2002-08-29		ENSG00000124789	ENSG00000124789			8062	protein-coding gene	gene with protein product		603948	"""nucleoporin 153kD"""			8110839	Standard	NM_001278209		Approved	HNUP153	uc003ncd.2	P49790	OTTHUMG00000014312	ENST00000262077.2:c.1111A>G	6.37:g.17665574T>C	ENSP00000262077:p.Lys371Glu	Somatic		WXS	Illumina HiSeq	Phase_IV	B4DIK2|E7EPX5|F6QR24|Q4LE47|Q5T9I7|Q7Z743	Missense_Mutation	SNP	pfam_Nucleoporin_Nup153,pfam_Znf_RanBP2,pfam_Retro-transposon_transp_CS,smart_Znf_RanBP2,pfscan_Znf_RanBP2	p.K371E	ENST00000262077.2	37	c.1111	CCDS4541.1	6	.	.	.	.	.	.	.	.	.	.	T	20.3	3.965183	0.74131	.	.	ENSG00000124789	ENST00000262077;ENST00000430136;ENST00000537253	T;T	0.33216	1.42;1.42	4.95	4.95	0.65309	Nucleoporin, Nup153-like (1);	0.000000	0.49305	D	0.000157	T	0.44953	0.1318	M	0.68317	2.08	0.37182	D	0.903527	D;D;D	0.89917	1.0;0.998;0.997	D;D;D	0.87578	0.998;0.937;0.991	T	0.50575	-0.8812	10	0.59425	D	0.04	-11.4753	14.9313	0.70916	0.0:0.0:0.0:1.0	.	371;393;371	F6QR24;Q4LE47;P49790	.;.;NU153_HUMAN	E	371;393;371	ENSP00000262077:K371E;ENSP00000444029:K371E	ENSP00000262077:K371E	K	-	1	0	NUP153	17773553	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.532000	0.53553	1.984000	0.57885	0.460000	0.39030	AAG	NUP153	-	pfam_Nucleoporin_Nup153		0.338	NUP153-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NUP153	HGNC	protein_coding	OTTHUMT00000039953.1	T			17665574	-1	no_errors	ENST00000537253	ensembl	human	known	70_37	missense	SNP	1.000	C
NXF2B	728343	genome.wustl.edu	37	X	101620151	101620151	+	Missense_Mutation	SNP	G	G	A			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chrX:101620151G>A	ENST00000372750.1	-	20	2094	c.1295C>T	c.(1294-1296)tCa>tTa	p.S432L	NXF2B_ENST00000412230.2_Missense_Mutation_p.S432L|NXF2B_ENST00000489531.1_5'UTR|NXF2B_ENST00000372749.1_Missense_Mutation_p.S432L|NXF2B_ENST00000372752.1_Missense_Mutation_p.S344L|NXF2B_ENST00000457521.2_Missense_Mutation_p.S432L			Q9GZY0	NXF2_HUMAN	nuclear RNA export factor 2B	432	NTF2. {ECO:0000255|PROSITE- ProRule:PRU00137}.				mRNA export from nucleus (GO:0006406)|multicellular organismal development (GO:0007275)|RNA transport (GO:0050658)	cytoplasm (GO:0005737)|nuclear RNA export factor complex (GO:0042272)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			breast(1)|kidney(1)|lung(4)|ovary(1)	7						TCACGGGGCTGAGTCCTTGGG	0.582																																																	0													64.0	66.0	66.0					X																	101620151		966	1981	2947	SO:0001583	missense	728343				CCDS43979.1	Xq22.1	2013-05-14			ENSG00000185945	ENSG00000269437			23984	protein-coding gene	gene with protein product						16382448	Standard	NM_001099686		Approved	bA353J17.1		Q9GZY0	OTTHUMG00000154920	ENST00000372750.1:c.1295C>T	X.37:g.101620151G>A	ENSP00000361836:p.Ser432Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	Q9BXU4|Q9NSS1|Q9NX66	Missense_Mutation	SNP	pfam_Tap_RNA-bd,pfam_TAP_C_dom,pfam_NTF2,superfamily_UBA-like,smart_TAP_C_dom,pfscan_Nuclear_transport_factor_2_euk	p.S432L	ENST00000372750.1	37	c.1295	CCDS43979.1	X	.	.	.	.	.	.	.	.	.	.	.	7.749	0.702996	0.15172	.	.	ENSG00000185945	ENST00000372752;ENST00000457521;ENST00000372749;ENST00000372750;ENST00000412230	T;T;T;T;T	0.64618	-0.11;-0.11;-0.11;-0.11;-0.11	3.67	0.893	0.19236	.	0.429999	0.24571	N	0.037398	T	0.45196	0.1330	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.24190	-1.0167	7	0.25751	T	0.34	-0.7918	3.8031	0.08765	0.3169:0.187:0.4961:0.0	.	.	.	.	L	344;432;432;432;432	ENSP00000361838:S344L;ENSP00000396447:S432L;ENSP00000361835:S432L;ENSP00000361836:S432L;ENSP00000413087:S432L	ENSP00000361835:S432L	S	-	2	0	NXF2B	101506807	0.848000	0.29623	0.000000	0.03702	0.018000	0.09664	1.078000	0.30754	0.061000	0.16311	0.455000	0.32223	TCA	NXF2B	-	pfam_NTF2,pfscan_Nuclear_transport_factor_2_euk		0.582	NXF2B-007	KNOWN	basic|appris_principal|CCDS	protein_coding	NXF2B	HGNC	protein_coding	OTTHUMT00000058979.1	G			101620151	-1	no_errors	ENST00000372749	ensembl	human	known	70_37	missense	SNP	0.023	A
NXT1	29107	genome.wustl.edu	37	20	23334805	23334805	+	Missense_Mutation	SNP	G	G	A			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr20:23334805G>A	ENST00000254998.2	+	2	514	c.127G>A	c.(127-129)Gcc>Acc	p.A43T	RP3-322G13.5_ENST00000444981.1_RNA|RP3-322G13.7_ENST00000442884.1_RNA|AL096677.1_ENST00000596205.1_5'Flank|RP3-322G13.5_ENST00000452395.1_RNA|RP3-322G13.5_ENST00000442440.1_RNA	NM_013248.2	NP_037380.1	Q9UKK6	NXT1_HUMAN	nuclear transport factor 2-like export factor 1	43	NTF2. {ECO:0000255|PROSITE- ProRule:PRU00137}.				protein export from nucleus (GO:0006611)|RNA export from nucleus (GO:0006405)	cytoplasm (GO:0005737)|nuclear pore (GO:0005643)				NS(1)|endometrium(1)|large_intestine(1)|lung(1)|ovary(1)|skin(1)	6	Lung NSC(19;0.0605)|Colorectal(13;0.0993)|all_lung(19;0.135)					CATGGGCACAGCCACCCTGGT	0.517																																																	0													87.0	74.0	78.0					20																	23334805		2203	4300	6503	SO:0001583	missense	29107			AF156957	CCDS13150.1	20p12-p11.2	2014-05-12	2014-05-12		ENSG00000132661	ENSG00000132661			15913	protein-coding gene	gene with protein product		605811	"""NTX2-like export factor1"", ""NTF2-like export factor 1"""			10567585, 11259602	Standard	NM_013248		Approved	P15, MTR2	uc002wsx.1	Q9UKK6	OTTHUMG00000032059	ENST00000254998.2:c.127G>A	20.37:g.23334805G>A	ENSP00000254998:p.Ala43Thr	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_NTF2,pfscan_Nuclear_transport_factor_2_euk	p.A43T	ENST00000254998.2	37	c.127	CCDS13150.1	20	.	.	.	.	.	.	.	.	.	.	G	26.8	4.773343	0.90108	.	.	ENSG00000132661	ENST00000254998	.	.	.	5.32	5.32	0.75619	Nuclear transport factor 2, Eukaryote (1);Nuclear transport factor 2 (1);	0.053782	0.64402	D	0.000001	T	0.77658	0.4163	M	0.76574	2.34	0.80722	D	1	D	0.63046	0.992	D	0.64237	0.923	T	0.78671	-0.2113	9	0.62326	D	0.03	.	16.9063	0.86128	0.0:0.0:1.0:0.0	.	43	Q9UKK6	NXT1_HUMAN	T	43	.	ENSP00000254998:A43T	A	+	1	0	NXT1	23282805	1.000000	0.71417	0.998000	0.56505	0.964000	0.63967	6.055000	0.71103	2.941000	0.99782	0.655000	0.94253	GCC	NXT1	-	pfam_NTF2,pfscan_Nuclear_transport_factor_2_euk		0.517	NXT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NXT1	HGNC	protein_coding	OTTHUMT00000078313.2	G	NM_013248		23334805	+1	no_errors	ENST00000254998	ensembl	human	known	70_37	missense	SNP	0.998	A
OAT	4942	genome.wustl.edu	37	10	126092460	126092460	+	Silent	SNP	C	C	T			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr10:126092460C>T	ENST00000368845.5	-	6	770	c.678G>A	c.(676-678)gcG>gcA	p.A226A	OAT_ENST00000467675.1_5'UTR|OAT_ENST00000539214.1_Silent_p.A88A	NM_000274.3	NP_000265.1	P04181	OAT_HUMAN	ornithine aminotransferase	226			A -> V (in HOGA). {ECO:0000269|PubMed:7887415}.		cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|L-proline biosynthetic process (GO:0055129)|protein hexamerization (GO:0034214)|small molecule metabolic process (GO:0044281)|visual perception (GO:0007601)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ornithine-oxo-acid transaminase activity (GO:0004587)|pyridoxal phosphate binding (GO:0030170)			endometrium(2)|large_intestine(1)|lung(2)	5		all_lung(145;0.0271)|Lung NSC(174;0.0436)|Colorectal(57;0.102)|all_neural(114;0.116)			L-Ornithine(DB00129)	CTACCATGAACGCAGCCACAT	0.468											OREG0020605	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													126.0	101.0	110.0					10																	126092460		2203	4300	6503	SO:0001819	synonymous_variant	4942			BC016928	CCDS7639.1, CCDS53586.1	10q26	2014-09-17	2010-01-20		ENSG00000065154	ENSG00000065154	2.6.1.13		8091	protein-coding gene	gene with protein product	"""Ornithine aminotransferase"", ""ornithine aminotransferase precursor"", ""gyrate atrophy"""	613349				1682785	Standard	NM_000274		Approved	HOGA	uc001lhp.3	P04181	OTTHUMG00000019213	ENST00000368845.5:c.678G>A	10.37:g.126092460C>T		Somatic	1547	WXS	Illumina HiSeq	Phase_IV	D3DRF0|Q16068|Q16069|Q68CS0|Q6IAV9|Q9UD03	Silent	SNP	pfam_Aminotrans_3,superfamily_PyrdxlP-dep_Trfase_major_dom,tigrfam_Orn_aminotrans	p.A226	ENST00000368845.5	37	c.678	CCDS7639.1	10																																																																																			OAT	-	pfam_Aminotrans_3,superfamily_PyrdxlP-dep_Trfase_major_dom,tigrfam_Orn_aminotrans		0.468	OAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OAT	HGNC	protein_coding	OTTHUMT00000050863.1	C	NM_000274		126092460	-1	no_errors	ENST00000368845	ensembl	human	known	70_37	silent	SNP	0.425	T
OCIAD1	54940	genome.wustl.edu	37	4	48854008	48854008	+	Intron	SNP	G	G	C			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr4:48854008G>C	ENST00000381473.3	+	7	965				OCIAD1_ENST00000425583.2_Intron|OCIAD1_ENST00000264312.7_Intron|OCIAD1_ENST00000513391.2_Intron|OCIAD1-AS1_ENST00000513576.1_RNA|OCIAD1_ENST00000509122.1_Intron|OCIAD1_ENST00000396448.2_Nonstop_Mutation_p.*188S|OCIAD1_ENST00000444354.2_Intron|OCIAD1_ENST00000506801.1_Intron|OCIAD1_ENST00000512981.1_3'UTR|OCIAD1_ENST00000508293.1_Intron	NM_001079839.2	NP_001073308.1	Q9NX40	OCAD1_HUMAN	OCIA domain containing 1							endosome (GO:0005768)|membrane (GO:0016020)|mitochondrion (GO:0005739)				breast(2)|large_intestine(2)|lung(2)|prostate(1)|skin(2)	9						AACTTCTCTTGAAATGAATTT	0.358																																																	0													97.0	95.0	95.0					4																	48854008		2203	4300	6503	SO:0001627	intron_variant	54940			AF324350	CCDS3484.1, CCDS43228.1, CCDS47052.1	4p11	2010-03-19			ENSG00000109180	ENSG00000109180			16074	protein-coding gene	gene with protein product						11162530, 18328549	Standard	NM_017830		Approved	FLJ20455, TPA018, OCIA, Asrij	uc010igk.3	Q9NX40	OTTHUMG00000102095	ENST00000381473.3:c.547+16G>C	4.37:g.48854008G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	C9K030|G8JLN7|Q9BZE8	Nonstop_Mutation	SNP	pfam_OCIA	p.*188S	ENST00000381473.3	37	c.563	CCDS3484.1	4	.	.	.	.	.	.	.	.	.	.	G	16.34	3.096541	0.56075	.	.	ENSG00000109180	ENST00000396448	.	.	.	5.0	4.1	0.47936	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.5948	0.56463	0.0:0.0:0.8351:0.1649	.	.	.	.	S	188	.	.	X	+	2	2	OCIAD1	48548765	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	2.627000	0.46469	2.474000	0.83562	0.467000	0.42956	TGA	OCIAD1	-	NULL		0.358	OCIAD1-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	OCIAD1	HGNC	protein_coding	OTTHUMT00000361812.3	G	NM_017830		48854008	+1	no_errors	ENST00000396448	ensembl	human	known	70_37	nonstop	SNP	1.000	C
ODC1	4953	genome.wustl.edu	37	2	10581818	10581818	+	Missense_Mutation	SNP	G	G	A			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr2:10581818G>A	ENST00000234111.4	-	11	1568	c.1058C>T	c.(1057-1059)tCc>tTc	p.S353F	ODC1_ENST00000446285.1_5'Flank|ODC1_ENST00000405333.1_Missense_Mutation_p.S353F	NM_002539.1	NP_002530.1	P11926	DCOR_HUMAN	ornithine decarboxylase 1	353					cellular nitrogen compound metabolic process (GO:0034641)|kidney development (GO:0001822)|polyamine metabolic process (GO:0006595)|positive regulation of cell proliferation (GO:0008284)|putrescine biosynthetic process from ornithine (GO:0033387)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of protein catabolic process (GO:0042176)|response to virus (GO:0009615)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	ornithine decarboxylase activity (GO:0004586)|protein homodimerization activity (GO:0042803)			NS(1)|central_nervous_system(1)|large_intestine(7)|lung(5)|ovary(1)|prostate(1)|skin(3)	19	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.11)|OV - Ovarian serous cystadenocarcinoma(76;0.161)	Spermine(DB00127)	CCATATGCTGGATGAATAATA	0.433																																																	0													93.0	92.0	92.0					2																	10581818		2203	4300	6503	SO:0001583	missense	4953				CCDS1672.1	2p25	2012-10-02			ENSG00000115758	ENSG00000115758	4.1.1.17		8109	protein-coding gene	gene with protein product		165640					Standard	NM_002539		Approved	ODC	uc002rao.1	P11926	OTTHUMG00000090450	ENST00000234111.4:c.1058C>T	2.37:g.10581818G>A	ENSP00000234111:p.Ser353Phe	Somatic		WXS	Illumina HiSeq	Phase_IV	Q53TU3|Q6LDS9	Missense_Mutation	SNP	pfam_De-COase2_N,pfam_De-COase2_C,superfamily_Ala_racemase/Decarboxylase_C,prints_Orn_de-COase,prints_Orn/DAP/Arg_de-COase	p.S353F	ENST00000234111.4	37	c.1058	CCDS1672.1	2	.	.	.	.	.	.	.	.	.	.	G	22.0	4.237207	0.79800	.	.	ENSG00000115758	ENST00000234111;ENST00000405333;ENST00000537630	T;T	0.47177	0.85;0.85	5.66	3.7	0.42460	Orn/DAP/Arg decarboxylase 2, C-terminal (1);Alanine racemase/group IV decarboxylase, C-terminal (2);	0.438594	0.28683	N	0.014493	T	0.52158	0.1717	L	0.43757	1.38	0.46028	D	0.99882	B	0.25105	0.118	B	0.42959	0.403	T	0.59434	-0.7455	10	0.87932	D	0	.	14.8709	0.70456	0.0:0.3346:0.6654:0.0	.	353	P11926	DCOR_HUMAN	F	353;353;224	ENSP00000234111:S353F;ENSP00000385333:S353F	ENSP00000234111:S353F	S	-	2	0	ODC1	10499269	1.000000	0.71417	0.923000	0.36655	0.992000	0.81027	4.328000	0.59253	2.669000	0.90835	0.591000	0.81541	TCC	ODC1	-	pfam_De-COase2_C,superfamily_Ala_racemase/Decarboxylase_C		0.433	ODC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ODC1	HGNC	protein_coding	OTTHUMT00000206896.2	G			10581818	-1	no_errors	ENST00000234111	ensembl	human	known	70_37	missense	SNP	0.982	A
OGDH	4967	genome.wustl.edu	37	7	44746853	44746853	+	Missense_Mutation	SNP	G	G	A			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr7:44746853G>A	ENST00000222673.5	+	21	2704	c.2662G>A	c.(2662-2664)Gat>Aat	p.D888N	OGDH_ENST00000439616.2_Missense_Mutation_p.D738N|OGDH_ENST00000449767.1_Missense_Mutation_p.D884N|OGDH_ENST00000447398.1_Missense_Mutation_p.D899N|OGDH_ENST00000543843.1_Missense_Mutation_p.D839N|OGDH_ENST00000444676.1_Missense_Mutation_p.D903N	NM_002541.3	NP_002532.2	Q02218	ODO1_HUMAN	oxoglutarate (alpha-ketoglutarate) dehydrogenase (lipoamide)	888					2-oxoglutarate metabolic process (GO:0006103)|cellular metabolic process (GO:0044237)|cellular nitrogen compound metabolic process (GO:0034641)|cerebellar cortex development (GO:0021695)|generation of precursor metabolites and energy (GO:0006091)|glycolytic process (GO:0006096)|hippocampus development (GO:0021766)|lysine catabolic process (GO:0006554)|NADH metabolic process (GO:0006734)|olfactory bulb mitral cell layer development (GO:0061034)|pyramidal neuron development (GO:0021860)|small molecule metabolic process (GO:0044281)|striatum development (GO:0021756)|succinyl-CoA metabolic process (GO:0006104)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)|thalamus development (GO:0021794)|tricarboxylic acid cycle (GO:0006099)	mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrion (GO:0005739)|oxoglutarate dehydrogenase complex (GO:0045252)	metal ion binding (GO:0046872)|oxoglutarate dehydrogenase (NAD+) activity (GO:0034602)|oxoglutarate dehydrogenase (succinyl-transferring) activity (GO:0004591)|thiamine pyrophosphate binding (GO:0030976)			breast(2)|endometrium(5)|kidney(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	36					Valproic Acid(DB00313)	GATCCCAGAAGATGGCCCTGC	0.562																																																	0													66.0	62.0	63.0					7																	44746853		2203	4300	6503	SO:0001583	missense	4967			D10523	CCDS34627.1, CCDS47580.1, CCDS55107.1	7p13-p11.2	2010-11-23			ENSG00000105953	ENSG00000105953	1.2.4.2		8124	protein-coding gene	gene with protein product		613022				8020988, 1542694	Standard	NM_002541		Approved	E1k	uc003tln.3	Q02218	OTTHUMG00000155304	ENST00000222673.5:c.2662G>A	7.37:g.44746853G>A	ENSP00000222673:p.Asp888Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	B4E2U9|D3DVL0|E9PBM1|Q96DD3|Q9UDX0	Missense_Mutation	SNP	pfam_DH_E1,pfam_Transketolase-like_Pyr-bd,smart_Transketolase-like_Pyr-bd,pirsf_2oxoglutarate_DH_E1,tigrfam_2oxoglutarate_DH_E1	p.D888N	ENST00000222673.5	37	c.2662	CCDS34627.1	7	.	.	.	.	.	.	.	.	.	.	G	10.39	1.337376	0.24253	.	.	ENSG00000105953	ENST00000439616;ENST00000449767;ENST00000447398;ENST00000444676;ENST00000222673;ENST00000543843	T;T;T;T;T;T	0.10960	2.82;2.82;2.82;2.82;2.82;2.82	5.48	0.503	0.16940	.	0.603732	0.18733	N	0.132665	T	0.07683	0.0193	L	0.33710	1.025	0.09310	N	1	B;B;B;B;B	0.06786	0.0;0.001;0.0;0.0;0.0	B;B;B;B;B	0.04013	0.001;0.001;0.001;0.001;0.001	T	0.34576	-0.9823	10	0.27785	T	0.31	-9.5233	9.2381	0.37479	0.6571:0.0:0.3429:0.0	.	683;738;884;899;888	B4E3E9;E9PFG7;E9PBM1;E9PDF2;Q02218	.;.;.;.;ODO1_HUMAN	N	738;884;899;903;888;839	ENSP00000398576:D738N;ENSP00000392878:D884N;ENSP00000388183:D899N;ENSP00000414662:D903N;ENSP00000222673:D888N;ENSP00000443821:D839N	ENSP00000222673:D888N	D	+	1	0	OGDH	44713378	0.000000	0.05858	0.455000	0.27031	0.970000	0.65996	0.886000	0.28241	-0.050000	0.13356	0.491000	0.48974	GAT	OGDH	-	pirsf_2oxoglutarate_DH_E1,tigrfam_2oxoglutarate_DH_E1		0.562	OGDH-001	KNOWN	basic|CCDS	protein_coding	OGDH	HGNC	protein_coding	OTTHUMT00000339391.1	G			44746853	+1	no_errors	ENST00000222673	ensembl	human	known	70_37	missense	SNP	0.002	A
OR10G9	219870	genome.wustl.edu	37	11	123893793	123893793	+	Missense_Mutation	SNP	T	T	A			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr11:123893793T>A	ENST00000375024.1	+	1	74	c.74T>A	c.(73-75)cTc>cAc	p.L25H		NM_001001953.1	NP_001001953.1	Q8NGN4	O10G9_HUMAN	olfactory receptor, family 10, subfamily G, member 9	25						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(33)|prostate(2)|skin(4)|stomach(8)|urinary_tract(1)	61		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		GACGCCCCACTCTTTGGAATC	0.582																																																	0													209.0	194.0	199.0					11																	123893793		2201	4299	6500	SO:0001583	missense	219870			AB065756	CCDS31703.1	11q24.1	2012-08-09			ENSG00000236981	ENSG00000236981		"""GPCR / Class A : Olfactory receptors"""	15129	protein-coding gene	gene with protein product				OR10G10P			Standard	NM_001001953		Approved		uc010sad.2	Q8NGN4	OTTHUMG00000165967	ENST00000375024.1:c.74T>A	11.37:g.123893793T>A	ENSP00000364164:p.Leu25His	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.L25H	ENST00000375024.1	37	c.74	CCDS31703.1	11	.	.	.	.	.	.	.	.	.	.	T	15.47	2.843166	0.51057	.	.	ENSG00000236981	ENST00000375024	T	0.17691	2.26	3.33	3.33	0.38152	.	0.000000	0.43747	D	0.000532	T	0.38506	0.1043	M	0.83852	2.665	0.29907	N	0.823877	D	0.71674	0.998	D	0.66602	0.945	T	0.34750	-0.9816	10	0.66056	D	0.02	.	8.4118	0.32648	0.1747:0.0:0.0:0.8252	.	25	Q8NGN4	O10G9_HUMAN	H	25	ENSP00000364164:L25H	ENSP00000364164:L25H	L	+	2	0	OR10G9	123399003	0.014000	0.17966	0.252000	0.24328	0.018000	0.09664	0.954000	0.29175	1.512000	0.48834	0.533000	0.62120	CTC	OR10G9	-	prints_GPCR_Rhodpsn		0.582	OR10G9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR10G9	HGNC	protein_coding	OTTHUMT00000387269.1	T	NM_001001953		123893793	+1	no_errors	ENST00000375024	ensembl	human	known	70_37	missense	SNP	0.836	A
OR10G7	390265	genome.wustl.edu	37	11	123909484	123909484	+	Silent	SNP	C	C	T	rs138227924		TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr11:123909484C>T	ENST00000330487.5	-	1	233	c.225G>A	c.(223-225)acG>acA	p.T75T		NM_001004463.1	NP_001004463.1	Q8NGN6	O10G7_HUMAN	olfactory receptor, family 10, subfamily G, member 7	75						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(6)|lung(20)|ovary(2)|prostate(2)|stomach(3)|urinary_tract(1)	47		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0521)		TTTTGGGCACCGTGACAGTGG	0.537																																																	0								C		1,4399	2.1+/-5.4	0,1,2199	101.0	109.0	107.0		225	-1.2	1.0	11	dbSNP_134	107	0,8594		0,0,4297	no	coding-synonymous	OR10G7	NM_001004463.1		0,1,6496	TT,TC,CC		0.0,0.0227,0.0077		75/312	123909484	1,12993	2200	4297	6497	SO:0001819	synonymous_variant	390265			AB065754	CCDS31705.1	11q24.1	2012-08-09			ENSG00000182634	ENSG00000182634		"""GPCR / Class A : Olfactory receptors"""	14842	protein-coding gene	gene with protein product							Standard	NM_001004463		Approved		uc001pzq.1	Q8NGN6	OTTHUMG00000165969	ENST00000330487.5:c.225G>A	11.37:g.123909484C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q6IFE8	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.T75	ENST00000330487.5	37	c.225	CCDS31705.1	11																																																																																			OR10G7	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn		0.537	OR10G7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR10G7	HGNC	protein_coding	OTTHUMT00000387271.1	C	NM_001004463		123909484	-1	no_errors	ENST00000330487	ensembl	human	known	70_37	silent	SNP	0.046	T
OR10H5	284433	genome.wustl.edu	37	19	15905729	15905729	+	Missense_Mutation	SNP	T	T	G			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr19:15905729T>G	ENST00000308940.8	+	1	969	c.871T>G	c.(871-873)Ttc>Gtc	p.F291V		NM_001004466.1	NP_001004466.1	Q8NGA6	O10H5_HUMAN	olfactory receptor, family 10, subfamily H, member 5	291						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(9)|ovary(1)	20						CCCCATCATCTTCAGCCTCAG	0.522																																																	0													75.0	65.0	68.0					19																	15905729		2203	4298	6501	SO:0001583	missense	284433			AC011537	CCDS32940.1	19p13.12	2013-09-24			ENSG00000172519	ENSG00000172519		"""GPCR / Class A : Olfactory receptors"""	15389	protein-coding gene	gene with protein product							Standard	NM_001004466		Approved		uc010xos.2	Q8NGA6	OTTHUMG00000182284	ENST00000308940.8:c.871T>G	19.37:g.15905729T>G	ENSP00000310704:p.Phe291Val	Somatic		WXS	Illumina HiSeq	Phase_IV	Q6IFJ0|Q96R60	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.F291V	ENST00000308940.8	37	c.871	CCDS32940.1	19	.	.	.	.	.	.	.	.	.	.	.	15.51	2.856373	0.51376	.	.	ENSG00000172519	ENST00000308940	T	0.37411	1.2	3.58	3.58	0.41010	GPCR, rhodopsin-like superfamily (1);	0.000000	0.51477	D	0.000099	T	0.52821	0.1758	L	0.57536	1.79	0.38326	D	0.943671	D	0.89917	1.0	D	0.91635	0.999	T	0.59663	-0.7412	10	0.87932	D	0	.	10.414	0.44311	0.0:0.0:0.0:1.0	.	291	Q8NGA6	O10H5_HUMAN	V	291	ENSP00000310704:F291V	ENSP00000310704:F291V	F	+	1	0	OR10H5	15766729	1.000000	0.71417	0.997000	0.53966	0.402000	0.30811	7.178000	0.77657	1.403000	0.46800	0.254000	0.18369	TTC	OR10H5	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn		0.522	OR10H5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR10H5	HGNC	protein_coding	OTTHUMT00000460363.1	T			15905729	+1	no_errors	ENST00000308940	ensembl	human	known	70_37	missense	SNP	1.000	G
OR10S1	219873	genome.wustl.edu	37	11	123847899	123847899	+	Missense_Mutation	SNP	G	G	A			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr11:123847899G>A	ENST00000531945.1	-	1	589	c.500C>T	c.(499-501)gCc>gTc	p.A167V		NM_001004474.1	NP_001004474.1	Q8NGN2	O10S1_HUMAN	olfactory receptor, family 10, subfamily S, member 1	167						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	36		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		AGCGTGCGTGGCACCTATGGC	0.557																																																	0													116.0	100.0	106.0					11																	123847899		2202	4299	6501	SO:0001583	missense	219873			BK004509	CCDS31701.1	11q24.1	2012-08-09			ENSG00000196248	ENSG00000196248		"""GPCR / Class A : Olfactory receptors"""	14807	protein-coding gene	gene with protein product							Standard	NM_001004474		Approved		uc001pzm.1	Q8NGN2	OTTHUMG00000165963	ENST00000531945.1:c.500C>T	11.37:g.123847899G>A	ENSP00000431914:p.Ala167Val	Somatic		WXS	Illumina HiSeq	Phase_IV	B9EH43|Q6IEV3|Q96R78	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.A167V	ENST00000531945.1	37	c.500	CCDS31701.1	11	.	.	.	.	.	.	.	.	.	.	G	12.39	1.924039	0.34002	.	.	ENSG00000196248	ENST00000531945	T	0.00044	8.83	4.89	4.89	0.63831	GPCR, rhodopsin-like superfamily (1);	0.388421	0.18493	U	0.139594	T	0.00073	0.0002	N	0.04260	-0.245	0.09310	N	1	B	0.30326	0.276	B	0.32393	0.145	T	0.28427	-1.0044	10	0.28530	T	0.3	-11.9514	6.3464	0.21351	0.22:0.0:0.78:0.0	.	167	Q8NGN2	O10S1_HUMAN	V	167	ENSP00000431914:A167V	ENSP00000431914:A167V	A	-	2	0	OR10S1	123353109	0.000000	0.05858	0.353000	0.25747	0.334000	0.28698	0.720000	0.25896	2.577000	0.86979	0.573000	0.79308	GCC	OR10S1	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.557	OR10S1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR10S1	HGNC	protein_coding	OTTHUMT00000387265.2	G	NM_001004474		123847899	-1	no_errors	ENST00000531945	ensembl	human	known	70_37	missense	SNP	0.114	A
OR13J1	392309	genome.wustl.edu	37	9	35870178	35870178	+	Missense_Mutation	SNP	G	G	A	rs569130181	byFrequency	TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr9:35870178G>A	ENST00000377981.2	-	1	283	c.221C>T	c.(220-222)aCg>aTg	p.T74M		NM_001004487.1	NP_001004487.1	Q8NGT2	O13J1_HUMAN	olfactory receptor, family 13, subfamily J, member 1	74						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|large_intestine(1)|lung(3)|skin(1)	6	all_epithelial(49;0.169)		LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00494)|STAD - Stomach adenocarcinoma(86;0.194)			AAAGGTGGGCGTGTAGCAGAT	0.577													G|||	2	0.000399361	0.0015	0.0	5008	,	,		22828	0.0		0.0	False		,,,				2504	0.0																0													124.0	114.0	117.0					9																	35870178		2203	4300	6503	SO:0001583	missense	392309				CCDS35011.1	9p13.3	2013-09-24			ENSG00000168828	ENSG00000168828		"""GPCR / Class A : Olfactory receptors"""	15108	protein-coding gene	gene with protein product							Standard	NM_001004487		Approved		uc011lph.2	Q8NGT2	OTTHUMG00000019879	ENST00000377981.2:c.221C>T	9.37:g.35870178G>A	ENSP00000367219:p.Thr74Met	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RN66|Q6IF20|Q96R40	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.T74M	ENST00000377981.2	37	c.221	CCDS35011.1	9	.	.	.	.	.	.	.	.	.	.	G	18.79	3.698460	0.68386	.	.	ENSG00000168828	ENST00000377981	T	0.00581	6.42	4.71	4.71	0.59529	GPCR, rhodopsin-like superfamily (1);	0.000000	0.56097	D	0.000029	T	0.04137	0.0115	H	0.94808	3.585	0.42271	D	0.992052	D	0.89917	1.0	D	0.87578	0.998	T	0.00075	-1.2120	10	0.87932	D	0	.	11.3363	0.49505	0.0:0.183:0.817:0.0	.	74	Q8NGT2	O13J1_HUMAN	M	74	ENSP00000367219:T74M	ENSP00000367219:T74M	T	-	2	0	OR13J1	35860178	0.009000	0.17119	0.972000	0.41901	0.859000	0.49053	1.616000	0.36933	2.902000	0.99343	0.650000	0.86243	ACG	OR13J1	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn		0.577	OR13J1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR13J1	HGNC	protein_coding	OTTHUMT00000052381.1	G			35870178	-1	no_errors	ENST00000377981	ensembl	human	known	70_37	missense	SNP	0.996	A
OR2K2	26248	genome.wustl.edu	37	9	114089963	114089963	+	Missense_Mutation	SNP	A	A	T			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr9:114089963A>T	ENST00000374428.1	-	1	837	c.838T>A	c.(838-840)Tat>Aat	p.Y280N	OR2K2_ENST00000302681.1_Missense_Mutation_p.Y251N			Q8NGT1	OR2K2_HUMAN	olfactory receptor, family 2, subfamily K, member 2	280						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(2)|skin(2)	20						GCAGCCCCATAATACAAAATC	0.423																																																	0													113.0	112.0	113.0					9																	114089963		2203	4300	6503	SO:0001583	missense	26248			X64977	CCDS6778.1	9q31.3	2012-08-09			ENSG00000171133	ENSG00000171133		"""GPCR / Class A : Olfactory receptors"""	8264	protein-coding gene	gene with protein product				OR2AR1P		1370859, 17010214	Standard	NM_205859		Approved	HTPCRH06, HSHTPCRH06	uc011lwp.2	Q8NGT1	OTTHUMG00000020488	ENST00000374428.1:c.838T>A	9.37:g.114089963A>T	ENSP00000363550:p.Tyr280Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	Q2TA61|Q5VYK4|Q6IFI5	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.Y280N	ENST00000374428.1	37	c.838		9	.	.	.	.	.	.	.	.	.	.	A	13.86	2.362116	0.41902	.	.	ENSG00000171133	ENST00000302681;ENST00000374428	T;T	0.41400	1.0;1.0	4.55	3.4	0.38934	GPCR, rhodopsin-like superfamily (1);	0.975803	0.08324	U	0.963307	T	0.75406	0.3845	H	0.97365	3.99	0.32538	N	0.534026	D	0.89917	1.0	D	0.74674	0.984	T	0.71919	-0.4447	10	0.87932	D	0	.	8.6563	0.34066	0.9079:0.0:0.0921:0.0	.	280	Q8NGT1	OR2K2_HUMAN	N	251;280	ENSP00000305055:Y251N;ENSP00000363550:Y280N	ENSP00000305055:Y251N	Y	-	1	0	OR2K2	113129784	0.857000	0.29778	0.872000	0.34217	0.458000	0.32498	6.983000	0.76180	0.890000	0.36211	-0.342000	0.07992	TAT	OR2K2	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.423	OR2K2-201	KNOWN	basic	protein_coding	OR2K2	HGNC	protein_coding		A	NM_205859		114089963	-1	no_errors	ENST00000374428	ensembl	human	known	70_37	missense	SNP	0.938	T
OR1Q1	158131	genome.wustl.edu	37	9	125377830	125377830	+	Missense_Mutation	SNP	C	C	T			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr9:125377830C>T	ENST00000297913.2	+	1	883	c.814C>T	c.(814-816)Cgc>Tgc	p.R272C	RP11-64P14.7_ENST00000431442.1_RNA	NM_012364.1	NP_036496.1	Q15612	OR1Q1_HUMAN	olfactory receptor, family 1, subfamily Q, member 1	272					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(1)|prostate(1)|skin(2)	17						GACCAAGGGTCGCATTATAAC	0.527																																																	0													66.0	64.0	65.0					9																	125377830		2203	4300	6503	SO:0001583	missense	158131				CCDS35125.1	9q33.2	2013-09-20			ENSG00000165202	ENSG00000165202		"""GPCR / Class A : Olfactory receptors"""	8223	protein-coding gene	gene with protein product				OR1Q2, OR1Q3			Standard	NM_012364		Approved	OST226, OR9-A, HSTPCR106, OST226OR9-A, TPCR106	uc011lyy.2	Q15612	OTTHUMG00000020615	ENST00000297913.2:c.814C>T	9.37:g.125377830C>T	ENSP00000297913:p.Arg272Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q6IFN4|Q8NGR7|Q96R82	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.R272C	ENST00000297913.2	37	c.814	CCDS35125.1	9	.	.	.	.	.	.	.	.	.	.	C	11.21	1.572804	0.28092	.	.	ENSG00000165202	ENST00000297913	T	0.00130	8.69	5.57	4.67	0.58626	GPCR, rhodopsin-like superfamily (1);	0.000000	0.50627	D	0.000117	T	0.00552	0.0018	M	0.88640	2.97	0.19300	N	0.99997	D	0.89917	1.0	D	0.78314	0.991	T	0.29397	-1.0013	10	0.66056	D	0.02	-7.5851	13.5884	0.61944	0.1563:0.8437:0.0:0.0	.	272	Q15612	OR1Q1_HUMAN	C	272	ENSP00000297913:R272C	ENSP00000297913:R272C	R	+	1	0	OR1Q1	124417651	0.000000	0.05858	0.103000	0.21229	0.226000	0.24999	0.473000	0.22132	1.569000	0.49696	0.650000	0.86243	CGC	OR1Q1	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn		0.527	OR1Q1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR1Q1	HGNC	protein_coding	OTTHUMT00000053946.1	C			125377830	+1	no_errors	ENST00000297913	ensembl	human	known	70_37	missense	SNP	0.078	T
OR2M5	127059	genome.wustl.edu	37	1	248308766	248308766	+	Missense_Mutation	SNP	C	C	T			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr1:248308766C>T	ENST00000366476.1	+	1	317	c.317C>T	c.(316-318)tCa>tTa	p.S106L		NM_001004690.1	NP_001004690.1	A3KFT3	OR2M5_HUMAN	olfactory receptor, family 2, subfamily M, member 5	106						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(5)|kidney(2)|large_intestine(7)|liver(1)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	49	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0388)			TTCTATGTATCACTGCTTGGC	0.453																																																	0													308.0	302.0	304.0					1																	248308766		2203	4300	6503	SO:0001583	missense	127059				CCDS31105.1	1q44	2012-08-09		2004-03-10	ENSG00000162727	ENSG00000162727		"""GPCR / Class A : Olfactory receptors"""	19576	protein-coding gene	gene with protein product				OR2M5P			Standard	NM_001004690		Approved		uc010pze.2	A3KFT3	OTTHUMG00000040447	ENST00000366476.1:c.317C>T	1.37:g.248308766C>T	ENSP00000355432:p.Ser106Leu	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.S106L	ENST00000366476.1	37	c.317	CCDS31105.1	1	.	.	.	.	.	.	.	.	.	.	c	15.24	2.774381	0.49786	.	.	ENSG00000162727	ENST00000366476	T	0.00388	7.59	3.28	-0.738	0.11125	GPCR, rhodopsin-like superfamily (1);	0.376135	0.15495	U	0.259352	T	0.00356	0.0011	L	0.31207	0.915	0.09310	N	1	D	0.89917	1.0	D	0.91635	0.999	T	0.55704	-0.8099	10	0.48119	T	0.1	.	0.2844	0.00249	0.201:0.223:0.1999:0.3761	.	106	A3KFT3	OR2M5_HUMAN	L	106	ENSP00000355432:S106L	ENSP00000355432:S106L	S	+	2	0	OR2M5	246375389	0.000000	0.05858	0.000000	0.03702	0.356000	0.29392	-1.152000	0.03172	0.040000	0.15660	-0.344000	0.07964	TCA	OR2M5	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn		0.453	OR2M5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR2M5	HGNC	protein_coding	OTTHUMT00000097343.1	C	NM_001004690		248308766	+1	no_errors	ENST00000366476	ensembl	human	known	70_37	missense	SNP	0.001	T
OR3A1	4994	genome.wustl.edu	37	17	3195220	3195220	+	Silent	SNP	G	G	A			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr17:3195220G>A	ENST00000323404.1	-	1	656	c.657C>T	c.(655-657)atC>atT	p.I219I	RP11-64J4.2_ENST00000573491.1_RNA	NM_002550.2	NP_002541.2	P47881	OR3A1_HUMAN	olfactory receptor, family 3, subfamily A, member 1	219					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(2)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	20						GGATATAGGAGATGACAATGA	0.537																																					GBM(20;287 516 18743 28660 36594)												0													63.0	60.0	61.0					17																	3195220		2203	4300	6503	SO:0001819	synonymous_variant	4994			X80391	CCDS11023.1	17p13.3	2012-08-09			ENSG00000180090	ENSG00000180090		"""GPCR / Class A : Olfactory receptors"""	8282	protein-coding gene	gene with protein product						8921386, 8647456	Standard	NM_002550		Approved	OLFRA03, OR40, OR17-40	uc002fvh.1	P47881	OTTHUMG00000090642	ENST00000323404.1:c.657C>T	17.37:g.3195220G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q4VB06|Q6IFM4	Silent	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.I219	ENST00000323404.1	37	c.657	CCDS11023.1	17																																																																																			OR3A1	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn		0.537	OR3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR3A1	HGNC	protein_coding	OTTHUMT00000207302.2	G			3195220	-1	no_errors	ENST00000323404	ensembl	human	known	70_37	silent	SNP	0.072	A
OR52A4	390053	genome.wustl.edu	37	11	5142642	5142642	+	RNA	SNP	T	T	G			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr11:5142642T>G	ENST00000498233.1	-	0	756							A6NMU1	O52A4_HUMAN	olfactory receptor, family 52, subfamily A, member 4							integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(2)|kidney(1)|lung(12)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	22		Medulloblastoma(188;0.0049)|all_neural(188;0.0442)|Breast(177;0.0675)		Epithelial(150;1.7e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.2)		GAGGCTTGGCTCAGATTTGAT	0.423																																																	0													80.0	81.0	81.0					11																	5142642		2201	4298	6499			390053					11p15.4	2012-10-03	2012-10-03	2012-10-03	ENSG00000205494	ENSG00000205494		"""GPCR / Class A : Olfactory receptors"""	19579	pseudogene	pseudogene							Standard	NG_029079		Approved			A6NMU1	OTTHUMG00000066610		11.37:g.5142642T>G		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000498233.1	37	NULL		11	.	.	.	.	.	.	.	.	.	.	T	5.236	0.229044	0.09916	.	.	ENSG00000248953	ENST00000380369	.	.	.	4.07	4.07	0.47477	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.74405	0.3712	.	.	.	0.22468	N	0.999079	D	0.76494	0.999	D	0.76071	0.987	T	0.82647	-0.0354	6	0.87932	D	0	.	12.2755	0.54733	0.0:0.0:0.0:1.0	.	56	A6NMU1	O52A4_HUMAN	A	56	.	ENSP00000369727:E56A	E	-	2	0	OR52A4	5099218	0.498000	0.26075	0.389000	0.26208	0.232000	0.25224	4.196000	0.58407	1.829000	0.53265	0.528000	0.53228	GAG	OR52A4	-	-		0.423	OR52A4-002	KNOWN	basic	processed_transcript	OR52A4	HGNC	pseudogene	OTTHUMT00000268565.1	T	NG_029079		5142642	-1	no_errors	ENST00000481634	ensembl	human	known	70_37	rna	SNP	0.016	G
OR51V1	283111	genome.wustl.edu	37	11	5221010	5221010	+	Silent	SNP	C	C	T			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr11:5221010C>T	ENST00000321255.1	-	1	920	c.921G>A	c.(919-921)caG>caA	p.Q307Q		NM_001004760.2	NP_001004760.2	Q9H2C8	O51V1_HUMAN	olfactory receptor, family 51, subfamily V, member 1	307					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|kidney(2)|large_intestine(13)|lung(19)|skin(2)|upper_aerodigestive_tract(2)	39		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.83e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TGGTATGAATCTGTTGGGTCT	0.393																																																	0													71.0	70.0	70.0					11																	5221010		2201	4298	6499	SO:0001819	synonymous_variant	283111			BK004432	CCDS31375.1	11p15.4	2012-08-09			ENSG00000176742	ENSG00000176742		"""GPCR / Class A : Olfactory receptors"""	19597	protein-coding gene	gene with protein product				OR51A12			Standard	NM_001004760		Approved		uc010qyz.2	Q9H2C8	OTTHUMG00000066671	ENST00000321255.1:c.921G>A	11.37:g.5221010C>T		Somatic		WXS	Illumina HiSeq	Phase_IV		Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.Q307	ENST00000321255.1	37	c.921	CCDS31375.1	11																																																																																			OR51V1	-	prints_GPCR_Rhodpsn		0.393	OR51V1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR51V1	HGNC	protein_coding	OTTHUMT00000142965.1	C	NM_001004760		5221010	-1	no_errors	ENST00000321255	ensembl	human	known	70_37	silent	SNP	0.998	T
OR52L1	338751	genome.wustl.edu	37	11	6007193	6007193	+	Missense_Mutation	SNP	C	C	G			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr11:6007193C>G	ENST00000332249.4	-	1	1022	c.968G>C	c.(967-969)aGa>aCa	p.R323T		NM_001005173.2	NP_001005173.2	Q8NGH7	O52L1_HUMAN	olfactory receptor, family 52, subfamily L, member 1	323						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(6)|lung(11)|pancreas(1)|skin(3)|soft_tissue(1)	30		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;1.98e-08)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TGTAAACACTCTGAGCACTCG	0.498																																					Melanoma(121;653 1666 10547 22796 51255)												0													44.0	43.0	43.0					11																	6007193		1983	4168	6151	SO:0001583	missense	338751			AB065819	CCDS44529.1	11p15.4	2012-08-09			ENSG00000183313	ENSG00000183313		"""GPCR / Class A : Olfactory receptors"""	14785	protein-coding gene	gene with protein product							Standard	NM_001005173		Approved		uc001mcd.2	Q8NGH7	OTTHUMG00000165374	ENST00000332249.4:c.968G>C	11.37:g.6007193C>G	ENSP00000330338:p.Arg323Thr	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RPA6|Q6IFK9	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.R323T	ENST00000332249.4	37	c.968	CCDS44529.1	11	.	.	.	.	.	.	.	.	.	.	C	2.754	-0.259476	0.05791	.	.	ENSG00000183313	ENST00000332249	T	0.40476	1.03	3.57	1.68	0.24146	.	0.000000	0.38217	U	0.001774	T	0.31979	0.0814	L	0.59436	1.845	0.25185	N	0.990172	P	0.36282	0.546	B	0.32980	0.156	T	0.23048	-1.0199	10	0.56958	D	0.05	.	4.66	0.12637	0.0:0.6113:0.1834:0.2053	.	323	Q8NGH7	O52L1_HUMAN	T	323	ENSP00000330338:R323T	ENSP00000330338:R323T	R	-	2	0	OR52L1	5963769	0.000000	0.05858	0.342000	0.25602	0.009000	0.06853	-0.581000	0.05820	0.321000	0.23259	-0.651000	0.03910	AGA	OR52L1	-	NULL		0.498	OR52L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR52L1	HGNC	protein_coding	OTTHUMT00000383754.1	C	NM_001005173		6007193	-1	no_errors	ENST00000332249	ensembl	human	known	70_37	missense	SNP	0.398	G
OR4X1	390113	genome.wustl.edu	37	11	48285667	48285667	+	Missense_Mutation	SNP	C	C	G			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr11:48285667C>G	ENST00000320048.1	+	1	255	c.255C>G	c.(253-255)atC>atG	p.I85M		NM_001004726.1	NP_001004726.1	Q8NH49	OR4X1_HUMAN	olfactory receptor, family 4, subfamily X, member 1 (gene/pseudogene)	85						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|stomach(1)	28						ACTCCTTTATCAAGAGGAAAG	0.473																																																	0													95.0	90.0	91.0					11																	48285667		2201	4298	6499	SO:0001583	missense	390113			AB065544	CCDS31487.1	11p11.2	2013-10-10	2013-10-10		ENSG00000176567	ENSG00000176567		"""GPCR / Class A : Olfactory receptors"""	14854	protein-coding gene	gene with protein product			"""olfactory receptor, family 4, subfamily X, member 1"""				Standard	NM_001004726		Approved		uc010rht.2	Q8NH49	OTTHUMG00000165301	ENST00000320048.1:c.255C>G	11.37:g.48285667C>G	ENSP00000321506:p.Ile85Met	Somatic		WXS	Illumina HiSeq	Phase_IV	Q6IF74	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.I85M	ENST00000320048.1	37	c.255	CCDS31487.1	11	.	.	.	.	.	.	.	.	.	.	C	0.456	-0.891293	0.02491	.	.	ENSG00000176567	ENST00000320048	T	0.00397	7.57	4.28	-8.57	0.00900	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00109	0.0003	N	0.04880	-0.145	0.09310	N	1	B	0.10296	0.003	B	0.10450	0.005	T	0.34601	-0.9822	9	0.35671	T	0.21	.	3.3393	0.07113	0.1013:0.1426:0.4026:0.3534	.	85	Q8NH49	OR4X1_HUMAN	M	85	ENSP00000321506:I85M	ENSP00000321506:I85M	I	+	3	3	OR4X1	48242243	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-6.970000	0.00048	-2.018000	0.00943	-0.259000	0.10710	ATC	OR4X1	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM		0.473	OR4X1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR4X1	HGNC	protein_coding	OTTHUMT00000383373.1	C	NM_001004726		48285667	+1	no_errors	ENST00000320048	ensembl	human	known	70_37	missense	SNP	0.000	G
OR5T2	219464	genome.wustl.edu	37	11	56000560	56000560	+	Silent	SNP	G	G	A	rs368044225		TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr11:56000560G>A	ENST00000313264.4	-	1	177	c.102C>T	c.(100-102)ttC>ttT	p.F34F		NM_001004746.1	NP_001004746.1	Q8NGG2	OR5T2_HUMAN	olfactory receptor, family 5, subfamily T, member 2	34						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(6)|kidney(1)|large_intestine(5)|lung(22)|ovary(2)|prostate(1)|skin(1)|stomach(3)	41	Esophageal squamous(21;0.00448)					GAACAAACTTGAAGATATGCA	0.353																																																	0								G		0,4402		0,0,2201	80.0	73.0	75.0		102	1.5	0.0	11		75	1,8589	1.2+/-3.3	0,1,4294	no	coding-synonymous	OR5T2	NM_001004746.1		0,1,6495	AA,AG,GG		0.0116,0.0,0.0077		34/360	56000560	1,12991	2201	4295	6496	SO:0001819	synonymous_variant	219464			AB065838	CCDS31523.1	11q11	2012-08-09			ENSG00000181718	ENSG00000181718		"""GPCR / Class A : Olfactory receptors"""	15296	protein-coding gene	gene with protein product							Standard	NM_001004746		Approved		uc010rjc.2	Q8NGG2	OTTHUMG00000166851	ENST00000313264.4:c.102C>T	11.37:g.56000560G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	B9EGX5|Q6IFC8	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.F34	ENST00000313264.4	37	c.102	CCDS31523.1	11																																																																																			OR5T2	-	NULL		0.353	OR5T2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR5T2	HGNC	protein_coding	OTTHUMT00000391598.1	G	NM_001004746		56000560	-1	no_errors	ENST00000313264	ensembl	human	known	70_37	silent	SNP	0.160	A
OR8H3	390152	genome.wustl.edu	37	11	55890680	55890680	+	Missense_Mutation	SNP	T	T	C			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr11:55890680T>C	ENST00000313472.3	+	1	832	c.832T>C	c.(832-834)Tat>Cat	p.Y278H		NM_001005201.1	NP_001005201.1	Q8N146	OR8H3_HUMAN	olfactory receptor, family 8, subfamily H, member 3	278						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(30)|ovary(2)|prostate(1)|skin(3)|stomach(1)	42	Esophageal squamous(21;0.00693)					TCCTGTGTTTTATACTATTGT	0.383																																																	0													102.0	105.0	104.0					11																	55890680		2201	4296	6497	SO:0001583	missense	390152			AB065840	CCDS31519.1	11q11	2012-08-09			ENSG00000181761	ENSG00000181761		"""GPCR / Class A : Olfactory receptors"""	15309	protein-coding gene	gene with protein product							Standard	NM_001005201		Approved		uc001nii.1	Q8N146	OTTHUMG00000166833	ENST00000313472.3:c.832T>C	11.37:g.55890680T>C	ENSP00000323928:p.Tyr278His	Somatic		WXS	Illumina HiSeq	Phase_IV	Q6IFB7	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.Y278H	ENST00000313472.3	37	c.832	CCDS31519.1	11	.	.	.	.	.	.	.	.	.	.	T	16.72	3.202164	0.58234	.	.	ENSG00000181761	ENST00000313472	T	0.00321	8.11	3.62	3.62	0.41486	GPCR, rhodopsin-like superfamily (1);	0.000000	0.47852	D	0.000204	T	0.00784	0.0026	M	0.88241	2.94	0.36033	D	0.83953	D	0.89917	1.0	D	0.97110	1.0	T	0.60791	-0.7193	10	0.87932	D	0	.	12.565	0.56304	0.0:0.0:0.0:1.0	.	278	Q8N146	OR8H3_HUMAN	H	278	ENSP00000323928:Y278H	ENSP00000323928:Y278H	Y	+	1	0	OR8H3	55647256	0.999000	0.42202	0.969000	0.41365	0.583000	0.36354	5.279000	0.65597	1.415000	0.47037	0.145000	0.16022	TAT	OR8H3	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn		0.383	OR8H3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR8H3	HGNC	protein_coding	OTTHUMT00000391541.1	T	NM_001005201		55890680	+1	no_errors	ENST00000313472	ensembl	human	known	70_37	missense	SNP	1.000	C
OR8K5	219453	genome.wustl.edu	37	11	55926966	55926966	+	Silent	SNP	C	C	T			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr11:55926966C>T	ENST00000313447.1	-	1	827	c.828G>A	c.(826-828)gtG>gtA	p.V276V		NM_001004058.2	NP_001004058.2	Q8NH50	OR8K5_HUMAN	olfactory receptor, family 8, subfamily K, member 5	276						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			large_intestine(3)|lung(24)|ovary(2)|pancreas(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	34	Esophageal squamous(21;0.00693)	Lung NSC(402;0.197)|all_epithelial(135;0.236)				AAGTGTAAAACACAGAAGCCA	0.393																																																	0													104.0	89.0	94.0					11																	55926966		2201	4296	6497	SO:0001819	synonymous_variant	219453			BK004347	CCDS31521.1	11q11	2012-08-09			ENSG00000181752	ENSG00000181752		"""GPCR / Class A : Olfactory receptors"""	15315	protein-coding gene	gene with protein product							Standard	NM_001004058		Approved		uc010rja.2	Q8NH50	OTTHUMG00000166820	ENST00000313447.1:c.828G>A	11.37:g.55926966C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q6IFB5	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.V276	ENST00000313447.1	37	c.828	CCDS31521.1	11																																																																																			OR8K5	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn		0.393	OR8K5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR8K5	HGNC	protein_coding	OTTHUMT00000391543.1	C	NM_001004058		55926966	-1	no_errors	ENST00000313447	ensembl	human	known	70_37	silent	SNP	0.245	T
OR8B2	26595	genome.wustl.edu	37	11	124252641	124252641	+	Missense_Mutation	SNP	A	A	G			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr11:124252641A>G	ENST00000375013.2	-	1	617	c.599T>C	c.(598-600)cTc>cCc	p.L200P		NM_001005468.1	NP_001005468.1	Q96RD0	OR8B2_HUMAN	olfactory receptor, family 8, subfamily B, member 2	200						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(13)|ovary(1)	23		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0277)		CACAACAATGAGAACAACCAC	0.433																																																	0													124.0	125.0	125.0					11																	124252641		2201	4299	6500	SO:0001583	missense	26595			AB065826	CCDS31708.1	11q24.1	2012-08-09			ENSG00000204293	ENSG00000204293		"""GPCR / Class A : Olfactory receptors"""	8471	protein-coding gene	gene with protein product							Standard	XM_005271500		Approved		uc010sai.2	Q96RD0	OTTHUMG00000165982	ENST00000375013.2:c.599T>C	11.37:g.124252641A>G	ENSP00000364152:p.Leu200Pro	Somatic		WXS	Illumina HiSeq	Phase_IV	Q8NGH2	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.L200P	ENST00000375013.2	37	c.599	CCDS31708.1	11	.	.	.	.	.	.	.	.	.	.	a	11.51	1.659697	0.29515	.	.	ENSG00000204293	ENST00000375013	T	0.00235	8.48	3.46	0.984	0.19773	GPCR, rhodopsin-like superfamily (1);	0.372870	0.22986	N	0.053247	T	0.00412	0.0013	M	0.82132	2.575	0.20638	N	0.999873	D	0.89917	1.0	D	0.91635	0.999	T	0.49995	-0.8879	10	0.87932	D	0	.	3.37	0.07217	0.5427:0.0:0.1042:0.3531	.	200	Q96RD0	OR8B2_HUMAN	P	200	ENSP00000364152:L200P	ENSP00000364152:L200P	L	-	2	0	OR8B2	123757851	0.115000	0.22152	0.000000	0.03702	0.015000	0.08874	2.214000	0.42853	0.072000	0.16694	0.329000	0.21502	CTC	OR8B2	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn		0.433	OR8B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR8B2	HGNC	protein_coding	OTTHUMT00000387290.1	A	NM_001005468		124252641	-1	no_errors	ENST00000375013	ensembl	human	known	70_37	missense	SNP	0.000	G
ORM2	5005	genome.wustl.edu	37	9	117092310	117092310	+	Intron	SNP	G	G	A			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr9:117092310G>A	ENST00000431067.2	+	1	150				ORM2_ENST00000412657.1_Nonsense_Mutation_p.W42*	NM_000608.2	NP_000599.1	P19652	A1AG2_HUMAN	orosomucoid 2						acute-phase response (GO:0006953)|regulation of immune system process (GO:0002682)|transport (GO:0006810)	blood microparticle (GO:0072562)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				breast(1)|endometrium(1)|large_intestine(1)|lung(1)|skin(2)|urinary_tract(1)	7		Myeloproliferative disorder(63;0.163)			Chlorpromazine(DB00477)|Oxycodone(DB00497)|Thalidomide(DB01041)	TGAGTGCCTGGGCTAGCCCTG	0.622																																					NSCLC(65;867 1308 1814 2391 12508)												0													13.0	17.0	16.0					9																	117092310		2092	4251	6343	SO:0001627	intron_variant	5005				CCDS6804.1	9q32	2013-09-19			ENSG00000228278	ENSG00000228278		"""Lipocalins"""	8499	protein-coding gene	gene with protein product	"""alpha-1-acid glycoprotein, type 2"""	138610				4711474, 2970990	Standard	NM_000608		Approved	AGP-B, AGP-B', AGP2		P19652	OTTHUMG00000021014	ENST00000431067.2:c.114+12G>A	9.37:g.117092310G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	B2R5L2|Q16571|Q5T538|Q6IB74	Nonsense_Mutation	SNP	NULL	p.W42*	ENST00000431067.2	37	c.126	CCDS6804.1	9	.	.	.	.	.	.	.	.	.	.	-	14.22	2.469074	0.43839	.	.	ENSG00000228278	ENST00000412657	.	.	.	2.77	1.83	0.25207	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	5.1528	0.15019	0.1762:0.0:0.8238:0.0	.	.	.	.	X	42	.	ENSP00000407099:W42X	W	+	3	0	ORM2	116132131	0.011000	0.17503	0.001000	0.08648	0.040000	0.13550	0.384000	0.20668	0.706000	0.31912	0.184000	0.17185	TGG	ORM2	-	NULL		0.622	ORM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ORM2	HGNC	protein_coding	OTTHUMT00000055432.1	G	NM_000608		117092310	+1	no_errors	ENST00000412657	ensembl	human	known	70_37	nonsense	SNP	0.001	A
OSBP2	23762	genome.wustl.edu	37	22	31266552	31266552	+	Silent	SNP	C	C	G	rs61729255	byFrequency	TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr22:31266552C>G	ENST00000332585.6	+	3	1094	c.990C>G	c.(988-990)ctC>ctG	p.L330L	OSBP2_ENST00000446658.2_Silent_p.L330L|OSBP2_ENST00000403222.3_Silent_p.L165L|OSBP2_ENST00000382310.3_Silent_p.L330L|OSBP2_ENST00000437268.2_Silent_p.L72L|OSBP2_ENST00000407373.1_Silent_p.L157L|OSBP2_ENST00000401475.1_5'UTR	NM_001282739.1|NM_001282740.1|NM_001282741.1|NM_001282742.1|NM_030758.3	NP_001269668.1|NP_001269669.1|NP_001269670.1|NP_001269671.1|NP_110385.1	Q969R2	OSBP2_HUMAN	oxysterol binding protein 2	330					lipid transport (GO:0006869)	membrane (GO:0016020)	cholesterol binding (GO:0015485)			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(6)|ovary(1)|skin(3)|urinary_tract(1)	19						GCGCTGCACTCCAGCGCTCCC	0.582																																																	0													63.0	70.0	68.0					22																	31266552		2153	4245	6398	SO:0001819	synonymous_variant	23762				CCDS43002.1, CCDS63448.1, CCDS63449.1, CCDS63450.1, CCDS63451.1	22q12.2	2013-01-10			ENSG00000184792	ENSG00000184792		"""Oxysterol binding proteins"", ""Pleckstrin homology (PH) domain containing"""	8504	protein-coding gene	gene with protein product		606729		OSBPL1		10591208, 11278871, 11802775	Standard	NM_001282738		Approved	KIAA1664, ORP-4, ORP4	uc003aiy.1	Q969R2	OTTHUMG00000151153	ENST00000332585.6:c.990C>G	22.37:g.31266552C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	B0QYG1|B4DK24|B4DKE4|B4DTR3|F5H2A3|O60396|Q0VF99|Q8NA37|Q9BY96|Q9BZF0	Silent	SNP	pfam_Oxysterol-bd,pfam_Pleckstrin_homology,superfamily_DNA-bd_dom_put,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.L330	ENST00000332585.6	37	c.990	CCDS43002.1	22																																																																																			OSBP2	-	NULL		0.582	OSBP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	OSBP2	HGNC	protein_coding	OTTHUMT00000321547.2	C	NM_030758		31266552	+1	no_errors	ENST00000332585	ensembl	human	known	70_37	silent	SNP	0.999	G
OSBP2	23762	genome.wustl.edu	37	22	31266626	31266626	+	Missense_Mutation	SNP	A	A	T			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr22:31266626A>T	ENST00000332585.6	+	3	1168	c.1064A>T	c.(1063-1065)gAg>gTg	p.E355V	OSBP2_ENST00000446658.2_Missense_Mutation_p.E355V|OSBP2_ENST00000403222.3_Missense_Mutation_p.E190V|OSBP2_ENST00000382310.3_Missense_Mutation_p.E355V|OSBP2_ENST00000437268.2_Missense_Mutation_p.E97V|OSBP2_ENST00000407373.1_Missense_Mutation_p.E182V|OSBP2_ENST00000401475.1_5'UTR	NM_001282739.1|NM_001282740.1|NM_001282741.1|NM_001282742.1|NM_030758.3	NP_001269668.1|NP_001269669.1|NP_001269670.1|NP_001269671.1|NP_110385.1	Q969R2	OSBP2_HUMAN	oxysterol binding protein 2	355					lipid transport (GO:0006869)	membrane (GO:0016020)	cholesterol binding (GO:0015485)			breast(3)|central_nervous_system(1)|endometrium(2)|kidney(2)|lung(6)|ovary(1)|skin(3)|urinary_tract(1)	19						GTGGTGAATGAGCGGGCCACC	0.642																																																	0													55.0	64.0	61.0					22																	31266626		2138	4246	6384	SO:0001583	missense	23762				CCDS43002.1, CCDS63448.1, CCDS63449.1, CCDS63450.1, CCDS63451.1	22q12.2	2013-01-10			ENSG00000184792	ENSG00000184792		"""Oxysterol binding proteins"", ""Pleckstrin homology (PH) domain containing"""	8504	protein-coding gene	gene with protein product		606729		OSBPL1		10591208, 11278871, 11802775	Standard	NM_001282738		Approved	KIAA1664, ORP-4, ORP4	uc003aiy.1	Q969R2	OTTHUMG00000151153	ENST00000332585.6:c.1064A>T	22.37:g.31266626A>T	ENSP00000332576:p.Glu355Val	Somatic		WXS	Illumina HiSeq	Phase_IV	B0QYG1|B4DK24|B4DKE4|B4DTR3|F5H2A3|O60396|Q0VF99|Q8NA37|Q9BY96|Q9BZF0	Missense_Mutation	SNP	pfam_Oxysterol-bd,pfam_Pleckstrin_homology,superfamily_DNA-bd_dom_put,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.E355V	ENST00000332585.6	37	c.1064	CCDS43002.1	22	.	.	.	.	.	.	.	.	.	.	A	27.0	4.789241	0.90367	.	.	ENSG00000184792	ENST00000403222;ENST00000407373;ENST00000332585;ENST00000382310;ENST00000446658;ENST00000437268	T;T;T;T;T;T	0.60299	0.55;0.56;1.14;0.93;1.14;0.2	4.64	4.64	0.57946	.	0.000000	0.85682	D	0.000000	T	0.80199	0.4579	M	0.91249	3.19	0.80722	D	1	D;B;D;D;D;D	0.89917	1.0;0.402;1.0;1.0;1.0;1.0	D;B;D;D;D;D	0.97110	1.0;0.253;1.0;1.0;0.999;0.999	D	0.85108	0.0961	10	0.87932	D	0	.	13.9121	0.63873	1.0:0.0:0.0:0.0	.	97;355;190;182;355;355	F5H2A3;B4DFA8;B4DKE4;Q6ZN50;Q0VF99;Q969R2	.;.;.;.;.;OSBP2_HUMAN	V	190;182;355;355;355;97	ENSP00000384213:E190V;ENSP00000385237:E182V;ENSP00000332576:E355V;ENSP00000371747:E355V;ENSP00000392080:E355V;ENSP00000389200:E97V	ENSP00000332576:E355V	E	+	2	0	OSBP2	29596626	1.000000	0.71417	0.990000	0.47175	0.922000	0.55478	8.866000	0.92307	1.960000	0.56953	0.533000	0.62120	GAG	OSBP2	-	NULL		0.642	OSBP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	OSBP2	HGNC	protein_coding	OTTHUMT00000321547.2	A	NM_030758		31266626	+1	no_errors	ENST00000332585	ensembl	human	known	70_37	missense	SNP	1.000	T
OSCP1	127700	genome.wustl.edu	37	1	36883838	36883838	+	Missense_Mutation	SNP	C	C	G			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr1:36883838C>G	ENST00000356637.5	-	11	1135	c.1072G>C	c.(1072-1074)Gag>Cag	p.E358Q	OSCP1_ENST00000433045.2_Missense_Mutation_p.E303Q|OSCP1_ENST00000235532.5_Missense_Mutation_p.E348Q|OSCP1_ENST00000315643.9_Intron|SNORA63_ENST00000364578.1_RNA|OSCP1_ENST00000495222.1_5'UTR			Q8WVF1	OSCP1_HUMAN	organic solute carrier partner 1	358					transport (GO:0006810)	plasma membrane (GO:0005886)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(3)|pancreas(1)|prostate(1)|skin(1)|stomach(2)|urinary_tract(1)	22						CGAGCCAGCTCCTCGCTCCGT	0.537																																																	0													84.0	65.0	72.0					1																	36883838		2203	4300	6503	SO:0001583	missense	127700				CCDS409.1, CCDS410.1, CCDS409.2	1p34.3	2009-07-06	2009-07-06	2009-07-06	ENSG00000116885	ENSG00000116885			29971	protein-coding gene	gene with protein product	"""oxidored nitro domain containing protein"""	608854	"""chromosome 1 open reading frame 102"""	C1orf102		12477932	Standard	NM_145047		Approved	NOR1	uc001caq.3	Q8WVF1	OTTHUMG00000008139	ENST00000356637.5:c.1072G>C	1.37:g.36883838C>G	ENSP00000349052:p.Glu358Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NHM5|A6NHS9|A6NIN9|Q4AEJ0|Q8N7G2|Q8TDF1	Missense_Mutation	SNP	pfam_OSCP1	p.E348Q	ENST00000356637.5	37	c.1042		1	.	.	.	.	.	.	.	.	.	.	C	18.01	3.528932	0.64860	.	.	ENSG00000116885	ENST00000235532;ENST00000356637;ENST00000433045	T;T;T	0.38887	1.53;1.56;1.11	5.58	5.58	0.84498	.	0.052821	0.85682	D	0.000000	T	0.52141	0.1716	M	0.73598	2.24	0.80722	D	1	P;P	0.52170	0.951;0.803	P;B	0.46796	0.527;0.232	T	0.56679	-0.7939	10	0.51188	T	0.08	.	16.7213	0.85410	0.0:1.0:0.0:0.0	.	348;358	Q8WVF1-3;Q8WVF1	.;OSCP1_HUMAN	Q	348;358;303	ENSP00000235532:E348Q;ENSP00000349052:E358Q;ENSP00000390820:E303Q	ENSP00000235532:E348Q	E	-	1	0	OSCP1	36656425	1.000000	0.71417	0.961000	0.40146	0.680000	0.39746	5.534000	0.67167	2.621000	0.88768	0.650000	0.86243	GAG	OSCP1	-	NULL		0.537	OSCP1-010	NOVEL	not_organism_supported|basic	protein_coding	OSCP1	HGNC	protein_coding	OTTHUMT00000389759.1	C	NM_145047		36883838	-1	no_errors	ENST00000235532	ensembl	human	known	70_37	missense	SNP	1.000	G
OSR1	130497	genome.wustl.edu	37	2	19553221	19553221	+	Missense_Mutation	SNP	G	G	A			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr2:19553221G>A	ENST00000272223.2	-	2	690	c.346C>T	c.(346-348)Cgc>Tgc	p.R116C	OSR1_ENST00000536433.1_Missense_Mutation_p.R116C	NM_145260.2	NP_660303.1	Q8TAX0	OSR1_HUMAN	odd-skipped related transciption factor 1	116					cell differentiation (GO:0030154)|cell proliferation involved in kidney development (GO:0072111)|cellular response to retinoic acid (GO:0071300)|chondrocyte differentiation (GO:0002062)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic skeletal joint development (GO:0072498)|embryonic skeletal joint morphogenesis (GO:0060272)|embryonic skeletal limb joint morphogenesis (GO:0036023)|gonad development (GO:0008406)|heart development (GO:0007507)|intermediate mesoderm development (GO:0048389)|mesangial cell development (GO:0072143)|mesonephric duct morphogenesis (GO:0072180)|mesonephros development (GO:0001823)|metanephric cap mesenchymal cell proliferation involved in metanephros development (GO:0090094)|metanephric epithelium development (GO:0072207)|metanephric glomerulus vasculature development (GO:0072239)|metanephric interstitial fibroblast development (GO:0072259)|metanephric mesenchymal cell differentiation (GO:0072162)|metanephric mesenchyme development (GO:0072075)|metanephric mesenchyme morphogenesis (GO:0072133)|metanephric nephron tubule development (GO:0072234)|metanephric smooth muscle tissue development (GO:0072208)|middle ear morphogenesis (GO:0042474)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epithelial cell differentiation (GO:0030857)|negative regulation of nephron tubule epithelial cell differentiation (GO:0072183)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|odontogenesis (GO:0042476)|palate development (GO:0060021)|pattern specification involved in metanephros development (GO:0072268)|positive regulation of bone mineralization (GO:0030501)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of gastrulation (GO:2000543)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|posterior mesonephric tubule development (GO:0072166)|pronephros development (GO:0048793)|renal vesicle progenitor cell differentiation (GO:0072184)|specification of anterior mesonephric tubule identity (GO:0072168)|specification of posterior mesonephric tubule identity (GO:0072169)|stem cell differentiation (GO:0048863)|transcription, DNA-templated (GO:0006351)|ureter urothelium development (GO:0072190)|ureteric bud development (GO:0001657)|urogenital system development (GO:0001655)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			breast(1)|large_intestine(2)|lung(4)|ovary(1)	8	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.197)	Acute lymphoblastic leukemia(84;0.221)				AAATCAAAGCGCGGCTTGGTC	0.647																																																	0													40.0	43.0	42.0					2																	19553221		2203	4300	6503	SO:0001583	missense	130497			BC025712	CCDS1694.1	2p24.1	2013-10-17	2013-10-17	2004-11-26	ENSG00000143867	ENSG00000143867		"""Zinc fingers, C2H2-type"""	8111	protein-coding gene	gene with protein product		608891	"""odd-skipped (Drosophila) homolog"", ""odd-skipped related 1 (Drosophila)"""	ODD		2120051, 12119563	Standard	XM_006711942		Approved		uc002rdc.3	Q8TAX0	OTTHUMG00000088793	ENST00000272223.2:c.346C>T	2.37:g.19553221G>A	ENSP00000272223:p.Arg116Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	B3KV97|D6W521	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.R116C	ENST00000272223.2	37	c.346	CCDS1694.1	2	.	.	.	.	.	.	.	.	.	.	G	21.3	4.126873	0.77549	.	.	ENSG00000143867	ENST00000272223;ENST00000536433	T;T	0.08102	3.13;3.13	5.28	5.28	0.74379	.	0.000000	0.85682	D	0.000000	T	0.24198	0.0586	M	0.61703	1.905	0.80722	D	1	D	0.89917	1.0	D	0.78314	0.991	T	0.00046	-1.2211	9	.	.	.	-29.0431	12.5811	0.56391	0.0:0.0:0.7221:0.2779	.	116	Q8TAX0	OSR1_HUMAN	C	116	ENSP00000272223:R116C;ENSP00000441801:R116C	.	R	-	1	0	OSR1	19416702	0.986000	0.35501	0.967000	0.41034	0.991000	0.79684	1.900000	0.39828	2.765000	0.95021	0.555000	0.69702	CGC	OSR1	-	NULL		0.647	OSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OSR1	HGNC	protein_coding	OTTHUMT00000201432.2	G	NM_145260		19553221	-1	no_errors	ENST00000272223	ensembl	human	known	70_37	missense	SNP	0.994	A
OTOG	340990	genome.wustl.edu	37	11	17613067	17613067	+	Missense_Mutation	SNP	C	C	T			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr11:17613067C>T	ENST00000399391.2	+	24	2974	c.2974C>T	c.(2974-2976)Cgg>Tgg	p.R992W	OTOG_ENST00000399397.1_Missense_Mutation_p.R919W|OTOG_ENST00000342528.2_Intron	NM_001277269.1	NP_001264198.1	Q6ZRI0	OTOG_HUMAN	otogelin	992	VWFD 3. {ECO:0000255|PROSITE- ProRule:PRU00580}.				adult locomotory behavior (GO:0008344)|L-arabinose metabolic process (GO:0046373)|sensory perception of sound (GO:0007605)	cytosol (GO:0005829)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	alpha-L-arabinofuranosidase activity (GO:0046556)|structural molecule activity (GO:0005198)			breast(3)|central_nervous_system(1)|lung(1)|skin(1)	6						CTATGGGGACCGGCATTACCG	0.587																																																	0																																										SO:0001583	missense	340990			AK128214	CCDS59225.1	11p14.3	2014-07-17			ENSG00000188162	ENSG00000188162			8516	protein-coding gene	gene with protein product		604487				9405633	Standard	NM_001277269		Approved	mlemp, OTGN, FLJ46346	uc031pzc.1	Q6ZRI0	OTTHUMG00000149905	ENST00000399391.2:c.2974C>T	11.37:g.17613067C>T	ENSP00000382323:p.Arg992Trp	Somatic		WXS	Illumina HiSeq	Phase_IV	A8MTX6|A8MUJ0|B7WPC4	Missense_Mutation	SNP	pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_AbfB,pfam_TIL_dom,superfamily_AbfB,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_EG-like_dom	p.R992W	ENST00000399391.2	37	c.2974	CCDS59225.1	11	.	.	.	.	.	.	.	.	.	.	C	22.3	4.276667	0.80580	.	.	ENSG00000188162	ENST00000399391;ENST00000399397	T;T	0.60171	0.21;0.21	4.77	4.77	0.60923	.	0.000000	0.49916	U	0.000121	T	0.75613	0.3873	M	0.80847	2.515	0.80722	D	1	.	.	.	.	.	.	T	0.78534	-0.2167	8	0.56958	D	0.05	.	18.3452	0.90319	0.0:1.0:0.0:0.0	.	.	.	.	W	992;919	ENSP00000382323:R992W;ENSP00000382329:R919W	ENSP00000382323:R992W	R	+	1	2	OTOG	17569643	1.000000	0.71417	0.997000	0.53966	0.476000	0.33039	5.525000	0.67110	2.634000	0.89283	0.650000	0.86243	CGG	OTOG	-	pfam_VWF_type-D,smart_VWC_out,smart_VWF_type-D		0.587	OTOG-201	KNOWN	basic|appris_principal|CCDS	protein_coding	OTOG	HGNC	protein_coding		C			17613067	+1	no_errors	ENST00000399391	ensembl	human	known	70_37	missense	SNP	1.000	T
OTOGL	283310	genome.wustl.edu	37	12	80735734	80735734	+	Missense_Mutation	SNP	G	G	T	rs573951271		TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr12:80735734G>T	ENST00000547103.1	+	43	5000	c.4994G>T	c.(4993-4995)tGc>tTc	p.C1665F	RN7SKP261_ENST00000410948.1_RNA|OTOGL_ENST00000458043.2_Missense_Mutation_p.C1677F			Q3ZCN5	OTOGL_HUMAN	otogelin-like	1665	VWFD 4. {ECO:0000255|PROSITE- ProRule:PRU00580}.				L-arabinose metabolic process (GO:0046373)	extracellular region (GO:0005576)	alpha-L-arabinofuranosidase activity (GO:0046556)			breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1)	23						CAAGGAATTTGCAATGAAGAT	0.289																																																	0													31.0	29.0	29.0					12																	80735734		1802	4086	5888	SO:0001583	missense	283310			AK096852		12q21.31	2011-02-11	2011-02-11	2011-02-11	ENSG00000165899	ENSG00000165899			26901	protein-coding gene	gene with protein product		614925	"""chromosome 12 open reading frame 64"""	C12orf64			Standard	NM_173591		Approved	FLJ90579	uc001szd.3	Q3ZCN5	OTTHUMG00000150509	ENST00000547103.1:c.4994G>T	12.37:g.80735734G>T	ENSP00000447211:p.Cys1665Phe	Somatic		WXS	Illumina HiSeq	Phase_IV	F8W0C3|Q495U8|Q8N8G5|Q8NC28	Missense_Mutation	SNP	pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_AbfB,superfamily_AbfB,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_Cys_knot_C,pfscan_Cys_knot_C	p.C1677F	ENST00000547103.1	37	c.5030		12	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.73|15.73	2.919934|2.919934	0.52653|0.52653	.|.	.|.	ENSG00000165899|ENSG00000165899	ENST00000298820|ENST00000547103;ENST00000458043	.|T;T	.|0.55413	.|0.52;0.52	5.06|5.06	5.06|5.06	0.68205|0.68205	.|.	.|.	.|.	.|.	.|.	T|T	0.67211|0.67211	0.2869|0.2869	M|M	0.74258|0.74258	2.255|2.255	0.43750|0.43750	D|D	0.996253|0.996253	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.62586|0.62586	-0.6823|-0.6823	5|7	.|0.20519	.|T	.|0.43	.|.	18.7958|18.7958	0.91993|0.91993	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	S|F	120|1665;1677	.|ENSP00000447211:C1665F;ENSP00000400895:C1677F	.|ENSP00000400895:C1677F	A|C	+|+	1|2	0|0	OTOGL|OTOGL	79259865|79259865	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.717000|0.717000	0.41224|0.41224	7.580000|7.580000	0.82523|0.82523	2.520000|2.520000	0.84964|0.84964	0.650000|0.650000	0.86243|0.86243	GCA|TGC	OTOGL	-	pfam_VWF_type-D,smart_VWF_type-D		0.289	OTOGL-001	NOVEL	not_organism_supported|basic	protein_coding	OTOGL	HGNC	protein_coding	OTTHUMT00000407438.1	G	NM_173591		80735734	+1	no_errors	ENST00000458043	ensembl	human	known	70_37	missense	SNP	1.000	T
OTOGL	283310	genome.wustl.edu	37	12	80764367	80764367	+	Missense_Mutation	SNP	C	C	A			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr12:80764367C>A	ENST00000547103.1	+	55	6576	c.6570C>A	c.(6568-6570)caC>caA	p.H2190Q	OTOGL_ENST00000546620.1_Missense_Mutation_p.H221Q|OTOGL_ENST00000458043.2_Missense_Mutation_p.H2202Q			Q3ZCN5	OTOGL_HUMAN	otogelin-like	2190					L-arabinose metabolic process (GO:0046373)	extracellular region (GO:0005576)	alpha-L-arabinofuranosidase activity (GO:0046556)			breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(14)|prostate(1)	23						GTACCTGGCACTACAATTGCA	0.308																																																	0													139.0	135.0	136.0					12																	80764367		2203	4300	6503	SO:0001583	missense	283310			AK096852		12q21.31	2011-02-11	2011-02-11	2011-02-11	ENSG00000165899	ENSG00000165899			26901	protein-coding gene	gene with protein product		614925	"""chromosome 12 open reading frame 64"""	C12orf64			Standard	NM_173591		Approved	FLJ90579	uc001szd.3	Q3ZCN5	OTTHUMG00000150509	ENST00000547103.1:c.6570C>A	12.37:g.80764367C>A	ENSP00000447211:p.His2190Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	F8W0C3|Q495U8|Q8N8G5|Q8NC28	Missense_Mutation	SNP	pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,pfam_AbfB,superfamily_AbfB,superfamily_TIL_dom,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_VWC_out,smart_Cys_knot_C,pfscan_Cys_knot_C	p.H2202Q	ENST00000547103.1	37	c.6606		12	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.35|12.35	1.912570|1.912570	0.33721|0.33721	.|.	.|.	ENSG00000165899|ENSG00000165899	ENST00000547103;ENST00000458043;ENST00000546620;ENST00000550182|ENST00000298820	T;T;T;T|.	0.40756|.	2.47;2.47;2.35;1.02|.	5.44|5.44	-0.0676|-0.0676	0.13759|0.13759	.|.	0.616711|.	0.15358|.	N|.	0.266578|.	T|T	0.32315|0.32315	0.0825|0.0825	L|L	0.40543|0.40543	1.245|1.245	0.23727|0.23727	N|N	0.997004|0.997004	B|.	0.29432|.	0.244|.	B|.	0.31751|.	0.135|.	T|T	0.28490|0.28490	-1.0042|-1.0042	10|5	0.22706|.	T|.	0.39|.	.|.	4.611|4.611	0.12402|0.12402	0.2677:0.4458:0.0:0.2865|0.2677:0.4458:0.0:0.2865	.|.	567|.	Q3ZCN5|.	OTOGL_HUMAN|.	Q|N	2190;2202;221;219|610	ENSP00000447211:H2190Q;ENSP00000400895:H2202Q;ENSP00000449094:H221Q;ENSP00000449641:H219Q|.	ENSP00000400895:H2202Q|.	H|T	+|+	3|2	2|0	OTOGL|OTOGL	79288498|79288498	0.895000|0.895000	0.30542|0.30542	0.988000|0.988000	0.46212|0.46212	0.268000|0.268000	0.26511|0.26511	-0.040000|-0.040000	0.12104|0.12104	0.291000|0.291000	0.22468|0.22468	0.591000|0.591000	0.81541|0.81541	CAC|ACT	OTOGL	-	NULL		0.308	OTOGL-001	NOVEL	not_organism_supported|basic	protein_coding	OTOGL	HGNC	protein_coding	OTTHUMT00000407438.1	C	NM_173591		80764367	+1	no_errors	ENST00000458043	ensembl	human	known	70_37	missense	SNP	0.938	A
OTUD5	55593	genome.wustl.edu	37	X	48792055	48792055	+	Missense_Mutation	SNP	C	C	T			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chrX:48792055C>T	ENST00000156084.4	-	4	899	c.839G>A	c.(838-840)gGc>gAc	p.G280D	OTUD5_ENST00000428668.2_Missense_Mutation_p.G63D|OTUD5_ENST00000376488.3_Missense_Mutation_p.G280D|OTUD5_ENST00000396743.3_Missense_Mutation_p.G280D|OTUD5_ENST00000484499.1_5'UTR	NM_017602.3	NP_060072.1	Q96G74	OTUD5_HUMAN	OTU deubiquitinase 5	280	OTU. {ECO:0000255|PROSITE- ProRule:PRU00139}.|Variable-loop. {ECO:0000250}.				innate immune response (GO:0045087)|negative regulation of type I interferon production (GO:0032480)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)|response to lipopolysaccharide (GO:0032496)	cytosol (GO:0005829)	ubiquitin-specific protease activity (GO:0004843)			endometrium(2)|large_intestine(3)|lung(6)|pancreas(2)	13						AATGTGGTTGCCATGGCAATT	0.478																																																	0													230.0	179.0	196.0					X																	48792055		2203	4300	6503	SO:0001583	missense	55593				CCDS14313.1, CCDS48104.1, CCDS48105.1	Xp11.23	2014-06-09	2014-02-24		ENSG00000068308	ENSG00000068308		"""OTU domain containing"""	25402	protein-coding gene	gene with protein product		300713	"""OTU domain containing 5"""			24143256	Standard	NM_001136157		Approved	DKFZp761A052, DUBA	uc004dlu.3	Q96G74	OTTHUMG00000024130	ENST00000156084.4:c.839G>A	X.37:g.48792055C>T	ENSP00000156084:p.Gly280Asp	Somatic		WXS	Illumina HiSeq	Phase_IV	B4DGG7|G5E9D7|Q4KMN9|Q8N6T5|Q9H650|Q9H9U0|Q9NT65	Missense_Mutation	SNP	pfam_OTU,pfscan_OTU	p.G280D	ENST00000156084.4	37	c.839	CCDS14313.1	X	.	.	.	.	.	.	.	.	.	.	C	25.4	4.630407	0.87660	.	.	ENSG00000068308	ENST00000396743;ENST00000453548;ENST00000455452;ENST00000156084;ENST00000376488;ENST00000428668	T;T;T;T;T	0.56444	0.46;0.46;0.46;0.46;0.46	5.52	5.52	0.82312	Ovarian tumour, otubain (2);	0.000000	0.85682	D	0.000000	T	0.80297	0.4597	M	0.93854	3.465	0.80722	D	1	D;D;D	0.89917	0.997;1.0;0.999	D;D;D	0.87578	0.98;0.998;0.987	D	0.85613	0.1259	10	0.87932	D	0	-13.049	17.3667	0.87366	0.0:1.0:0.0:0.0	.	63;280;280	B4DGG7;Q96G74;G5E9D7	.;OTUD5_HUMAN;.	D	280;256;153;280;280;63	ENSP00000379969:G280D;ENSP00000390767:G153D;ENSP00000156084:G280D;ENSP00000365671:G280D;ENSP00000401629:G63D	ENSP00000156084:G280D	G	-	2	0	OTUD5	48676999	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.799000	0.75160	2.456000	0.83038	0.529000	0.55759	GGC	OTUD5	-	pfam_OTU,pfscan_OTU		0.478	OTUD5-003	KNOWN	basic|CCDS	protein_coding	OTUD5	HGNC	protein_coding	OTTHUMT00000060799.1	C	NM_017602		48792055	-1	no_errors	ENST00000156084	ensembl	human	known	70_37	missense	SNP	1.000	T
PAFAH1B1	5048	genome.wustl.edu	37	17	2585025	2585025	+	Missense_Mutation	SNP	T	T	G			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr17:2585025T>G	ENST00000397195.5	+	11	1613	c.1162T>G	c.(1162-1164)Ttc>Gtc	p.F388V	PAFAH1B1_ENST00000451360.2_Missense_Mutation_p.F183V|RP11-74E22.5_ENST00000610120.1_RNA|PAFAH1B1_ENST00000572915.2_Intron|RN7SL608P_ENST00000492377.2_RNA	NM_000430.3	NP_000421.1			platelet-activating factor acetylhydrolase 1b, regulatory subunit 1 (45kDa)											endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(1)|skin(1)	11						TCTTTCAGATTTCCACAAGAC	0.428																																																	0													111.0	94.0	100.0					17																	2585025		2203	4300	6503	SO:0001583	missense	5048			L25107	CCDS32528.1	17p13.3	2014-04-04	2010-02-10		ENSG00000007168	ENSG00000007168		"""WD repeat domain containing"""	8574	protein-coding gene	gene with protein product	"""lissencephaly-1"""	601545	"""platelet-activating factor acetylhydrolase, isoform Ib, alpha subunit (45kD)"", ""Miller-Dieker syndrome chromosome region"", ""platelet-activating factor acetylhydrolase, isoform Ib, alpha subunit 45kDa"", ""platelet-activating factor acetylhydrolase, isoform Ib, subunit 1 (45kDa)"""	MDCR, MDS		8355785, 9063735	Standard	NM_000430		Approved	LIS1, PAFAH	uc002fuw.4	P43034	OTTHUMG00000177574	ENST00000397195.5:c.1162T>G	17.37:g.2585025T>G	ENSP00000380378:p.Phe388Val	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_WD40_repeat,pfam_LisH_dimerisation_subgr,superfamily_WD40_repeat_dom,smart_LisH_dimerisation,smart_WD40_repeat,pirsf_Dynein_regulator,prints_G-protein_beta_WD-40_rep,pfscan_LisH_dimerisation,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.F388V	ENST00000397195.5	37	c.1162	CCDS32528.1	17	.	.	.	.	.	.	.	.	.	.	T	16.79	3.221602	0.58560	.	.	ENSG00000007168	ENST00000397195;ENST00000397193;ENST00000451360	T;T	0.66638	-0.22;-0.22	5.96	5.96	0.96718	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.59418	0.2192	L	0.33137	0.985	0.80722	D	1	B;B	0.06786	0.001;0.001	B;B	0.19666	0.016;0.026	T	0.56691	-0.7937	10	0.66056	D	0.02	.	15.6122	0.76733	0.0:0.0:0.0:1.0	.	183;388	B4DF38;P43034	.;LIS1_HUMAN	V	388;217;183	ENSP00000380378:F388V;ENSP00000395628:F183V	ENSP00000380377:F217V	F	+	1	0	PAFAH1B1	2531775	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.967000	0.87967	2.277000	0.76020	0.528000	0.53228	TTC	PAFAH1B1	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pirsf_Dynein_regulator,pfscan_WD40_repeat,pfscan_WD40_repeat_dom		0.428	PAFAH1B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PAFAH1B1	HGNC	protein_coding	OTTHUMT00000437797.2	T	NM_000430		2585025	+1	no_errors	ENST00000397195	ensembl	human	known	70_37	missense	SNP	1.000	G
PAGR1	79447	genome.wustl.edu	37	16	29828234	29828234	+	Missense_Mutation	SNP	G	G	A			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr16:29828234G>A	ENST00000320330.6	+	1	950	c.388G>A	c.(388-390)Gag>Aag	p.E130K	PAGR1_ENST00000609618.1_Missense_Mutation_p.E130K|AC009133.12_ENST00000569809.1_RNA|AC009133.20_ENST00000569039.1_RNA|AC009133.12_ENST00000564980.1_RNA			Q9BTK6	PAGR1_HUMAN	PAXIP1 associated glutamate-rich protein 1	130	Glu-rich.					histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)											GCTGCAAGCCGAGATCCTGCC	0.647											OREG0023722	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													14.0	16.0	15.0					16																	29828234		2173	4267	6440	SO:0001583	missense	79447			BC003640	CCDS10655.1	16p11.2	2012-10-12	2012-10-12	2012-10-12	ENSG00000185928	ENSG00000185928			28707	protein-coding gene	gene with protein product	"""glutamate-rich coactivator interacting with SRC1/NCOA1"", ""PTIP-associated 1 protein"", ""glutamate-rich coactivator associated with SRC1"""	612033	"""chromosome 16 open reading frame 53"""	C16orf53		17500065, 19039327	Standard	NM_024516		Approved	MGC4606, GAS, PA1	uc002dug.4	Q9BTK6	OTTHUMG00000132117	ENST00000320330.6:c.388G>A	16.37:g.29828234G>A	ENSP00000326519:p.Glu130Lys	Somatic	812	WXS	Illumina HiSeq	Phase_IV	A2ICR6	Missense_Mutation	SNP	NULL	p.E130K	ENST00000320330.6	37	c.388	CCDS10655.1	16	.	.	.	.	.	.	.	.	.	.	G	19.77	3.889547	0.72524	.	.	ENSG00000185928	ENST00000320330	.	.	.	5.17	4.18	0.49190	.	0.315979	0.33813	N	0.004528	T	0.14098	0.0341	N	0.13098	0.295	0.24817	N	0.992606	P	0.42456	0.78	B	0.24701	0.055	T	0.07927	-1.0747	9	0.30078	T	0.28	-4.537	13.6274	0.62173	0.0:0.1568:0.8432:0.0	.	130	Q9BTK6	PA1_HUMAN	K	130	.	ENSP00000326519:E130K	E	+	1	0	C16orf53	29735735	1.000000	0.71417	0.638000	0.29380	0.338000	0.28826	6.407000	0.73280	1.272000	0.44329	0.655000	0.94253	GAG	PAGR1	-	NULL		0.647	PAGR1-002	PUTATIVE	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	PAGR1	HGNC	protein_coding	OTTHUMT00000473165.1	G	NM_024516		29828234	+1	no_errors	ENST00000320330	ensembl	human	known	70_37	missense	SNP	0.885	A
PAH	5053	genome.wustl.edu	37	12	103249048	103249048	+	Missense_Mutation	SNP	A	A	C			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr12:103249048A>C	ENST00000553106.1	-	6	1044	c.572T>G	c.(571-573)tTc>tGc	p.F191C	PAH_ENST00000307000.2_Missense_Mutation_p.F186C|PAH_ENST00000551988.1_5'Flank	NM_000277.1	NP_000268.1	P00439	PH4H_HUMAN	phenylalanine hydroxylase	191					catecholamine biosynthetic process (GO:0042423)|cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|L-phenylalanine catabolic process (GO:0006559)|neurotransmitter biosynthetic process (GO:0042136)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	amino acid binding (GO:0016597)|iron ion binding (GO:0005506)|phenylalanine 4-monooxygenase activity (GO:0004505)			endometrium(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(5)|skin(2)|urinary_tract(1)	27					Droxidopa(DB06262)|Epinephrine(DB00668)|L-Phenylalanine(DB00120)|Norepinephrine(DB00368)|Tetrahydrobiopterin(DB00360)	CAGAGTCTTGAACACTGTGCC	0.433																																																	0													125.0	117.0	120.0					12																	103249048		2203	4300	6503	SO:0001583	missense	5053			U49897	CCDS9092.1	12q22-q24.2	2010-04-27				ENSG00000171759	1.14.16.1		8582	protein-coding gene	gene with protein product	"""phenylalanine 4-monooxygenase"""	612349				2063869	Standard	NM_000277		Approved	PH	uc001tjq.1	P00439		ENST00000553106.1:c.572T>G	12.37:g.103249048A>C	ENSP00000448059:p.Phe191Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q16717|Q8TC14	Missense_Mutation	SNP	pfam_Aromatic-AA_hydroxylase_C,pfam_ACT_dom,superfamily_Aromatic-AA_hydroxylase_C,pirsf_Tyrosine_3-monooxygenase-like,prints_Aromatic-AA_hydroxylase_C,tigrfam_Phe-4-hydroxylase_tetra	p.F191C	ENST00000553106.1	37	c.572	CCDS9092.1	12	.	.	.	.	.	.	.	.	.	.	A	16.46	3.130545	0.56828	.	.	ENSG00000171759	ENST00000553106;ENST00000307000	D;D	0.99727	-6.55;-6.55	5.73	5.73	0.89815	Aromatic amino acid hydroxylase, C-terminal (3);	0.000000	0.85682	D	0.000000	D	0.99715	0.9890	M	0.87617	2.895	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	D	0.97412	1.0003	10	0.87932	D	0	-25.5532	16.0172	0.80450	1.0:0.0:0.0:0.0	.	191;191	B4DPN2;P00439	.;PH4H_HUMAN	C	191;186	ENSP00000448059:F191C;ENSP00000303500:F186C	ENSP00000303500:F186C	F	-	2	0	PAH	101773178	1.000000	0.71417	0.995000	0.50966	0.019000	0.09904	9.339000	0.96797	2.185000	0.69588	0.454000	0.30748	TTC	PAH	-	pfam_Aromatic-AA_hydroxylase_C,superfamily_Aromatic-AA_hydroxylase_C,pirsf_Tyrosine_3-monooxygenase-like,tigrfam_Phe-4-hydroxylase_tetra		0.433	PAH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PAH	HGNC	protein_coding	OTTHUMT00000406692.1	A			103249048	-1	no_errors	ENST00000553106	ensembl	human	known	70_37	missense	SNP	1.000	C
PAH	5053	genome.wustl.edu	37	12	103288558	103288559	+	Frame_Shift_Ins	INS	-	-	A	rs199475570		TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr12:103288558_103288559insA	ENST00000553106.1	-	3	778_779	c.306_307insT	c.(304-309)attggtfs	p.G103fs	PAH_ENST00000307000.2_Frame_Shift_Ins_p.G98fs|PAH_ENST00000551988.1_5'UTR	NM_000277.1	NP_000268.1	P00439	PH4H_HUMAN	phenylalanine hydroxylase	103	ACT. {ECO:0000255|PROSITE- ProRule:PRU01007}.				catecholamine biosynthetic process (GO:0042423)|cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|L-phenylalanine catabolic process (GO:0006559)|neurotransmitter biosynthetic process (GO:0042136)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	amino acid binding (GO:0016597)|iron ion binding (GO:0005506)|phenylalanine 4-monooxygenase activity (GO:0004505)			endometrium(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(5)|skin(2)|urinary_tract(1)	27					Droxidopa(DB06262)|Epinephrine(DB00668)|L-Phenylalanine(DB00120)|Norepinephrine(DB00368)|Tetrahydrobiopterin(DB00360)	ACAGTGGCACCAATGTCATGCC	0.386																																																	0			GRCh37	CM045080	PAH	M	rs144403519																																			SO:0001589	frameshift_variant	5053			U49897	CCDS9092.1	12q22-q24.2	2010-04-27				ENSG00000171759	1.14.16.1		8582	protein-coding gene	gene with protein product	"""phenylalanine 4-monooxygenase"""	612349				2063869	Standard	NM_000277		Approved	PH	uc001tjq.1	P00439		ENST00000553106.1:c.307dupT	12.37:g.103288560_103288560dupA	ENSP00000448059:p.Gly103fs	Somatic		WXS	Illumina HiSeq	Phase_IV	Q16717|Q8TC14	Frame_Shift_Ins	INS	pfam_Aromatic-AA_hydroxylase_C,pfam_ACT_dom,superfamily_Aromatic-AA_hydroxylase_C,pirsf_Tyrosine_3-monooxygenase-like,prints_Aromatic-AA_hydroxylase_C,tigrfam_Phe-4-hydroxylase_tetra	p.G102fs	ENST00000553106.1	37	c.307_306	CCDS9092.1	12																																																																																			PAH	-	pirsf_Tyrosine_3-monooxygenase-like,tigrfam_Phe-4-hydroxylase_tetra		0.386	PAH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PAH	HGNC	protein_coding	OTTHUMT00000406692.1	-			103288559	-1	no_errors	ENST00000553106	ensembl	human	known	70_37	frame_shift_ins	INS	1.000:0.982	A
PAPL	390928	genome.wustl.edu	37	19	39575960	39575960	+	Missense_Mutation	SNP	C	C	G			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr19:39575960C>G	ENST00000331256.5	+	2	325	c.51C>G	c.(49-51)ttC>ttG	p.F17L	PAPL_ENST00000594229.1_Missense_Mutation_p.F17L	NM_001004318.2	NP_001004318.2	Q6ZNF0	PAPL_HUMAN		17						extracellular region (GO:0005576)	acid phosphatase activity (GO:0003993)|metal ion binding (GO:0046872)										TCCTGCTATTCTCCTTGGGAG	0.597																																																	0													184.0	158.0	167.0					19																	39575960		2203	4300	6503	SO:0001583	missense	390928																														ENST00000331256.5:c.51C>G	19.37:g.39575960C>G	ENSP00000327557:p.Phe17Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RN68	Missense_Mutation	SNP	pfam_Metallo_PEstase_dom,superfamily_Purple_acid_Pase-like_N	p.F17L	ENST00000331256.5	37	c.51	CCDS33018.1	19	.	.	.	.	.	.	.	.	.	.	C	10.11	1.259960	0.23051	.	.	ENSG00000183760	ENST00000331256	.	.	.	4.06	2.99	0.34606	Purple acid phosphatase-like, N-terminal (1);	0.610676	0.17107	N	0.186762	T	0.15782	0.0380	N	0.04636	-0.2	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.21415	-1.0246	9	0.20046	T	0.44	-7.1284	9.0128	0.36150	0.2204:0.7796:0.0:0.0	.	17	Q6ZNF0	PAPL_HUMAN	L	17	.	ENSP00000327557:F17L	F	+	3	2	AC011443.1	44267800	0.014000	0.17966	0.005000	0.12908	0.005000	0.04900	1.903000	0.39858	1.025000	0.39708	0.462000	0.41574	TTC	PAPL	-	superfamily_Purple_acid_Pase-like_N		0.597	PAPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PAPL	Uniprot_genename	protein_coding	OTTHUMT00000463810.1	C			39575960	+1	no_errors	ENST00000331256	ensembl	human	known	70_37	missense	SNP	0.003	G
PAPLN	89932	genome.wustl.edu	37	14	73733225	73733225	+	Missense_Mutation	SNP	G	G	A			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr14:73733225G>A	ENST00000554301.1	+	23	3443	c.3280G>A	c.(3280-3282)Gat>Aat	p.D1094N	PAPLN_ENST00000381166.3_Intron|PAPLN_ENST00000555445.1_Missense_Mutation_p.D1078N|PAPLN_ENST00000340738.5_Missense_Mutation_p.D1067N|PAPLN_ENST00000427855.1_Missense_Mutation_p.D1094N			O95428	PPN_HUMAN	papilin, proteoglycan-like sulfated glycoprotein	1094	Ig-like C2-type 2.					basement membrane (GO:0005604)	metalloendopeptidase activity (GO:0004222)|serine-type endopeptidase inhibitor activity (GO:0004867)|zinc ion binding (GO:0008270)			NS(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(4)|lung(11)|ovary(3)|pancreas(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(3)	42				BRCA - Breast invasive adenocarcinoma(234;0.00394)|OV - Ovarian serous cystadenocarcinoma(108;0.0468)		GCTGCAGCCTGATGGCTCCCT	0.622																																																	0													50.0	42.0	45.0					14																	73733225		2203	4300	6503	SO:0001583	missense	89932			BC042057	CCDS32114.1	14q24.2	2013-01-11				ENSG00000100767		"""Immunoglobulin superfamily / I-set domain containing"""	19262	protein-coding gene	gene with protein product						11076767, 19734141	Standard	NM_173462		Approved	MGC50452	uc001xnw.4	O95428		ENST00000554301.1:c.3280G>A	14.37:g.73733225G>A	ENSP00000451803:p.Asp1094Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	B4DES8|B4DGE6|Q659F2|Q6UXJ4|Q6ZNM1|Q6ZUJ0|Q7Z681|Q8IVU0	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_ADAM_spacer1,pfam_Thrombospondin_1_rpt,pfam_Ig_V-set,pfam_Immunoglobulin,pfam_Prot_inh_Kunz-m,pfam_PLAC,superfamily_Prot_inh_Kunz-m,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_Prot_inh_Kunz-m,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_PLAC,pfscan_Thrombospondin_1_rpt,pfscan_Prot_inh_Kunz-m,pfscan_Ig-like,prints_Peptidase_M12B_ADAM-TS,prints_Prot_inh_Kunz-m	p.D1094N	ENST00000554301.1	37	c.3280		14	.	.	.	.	.	.	.	.	.	.	G	22.2	4.258333	0.80246	.	.	ENSG00000100767	ENST00000340738;ENST00000427855;ENST00000554301;ENST00000555445	T;T;T;T	0.28454	1.61;1.61;1.61;1.61	4.8	4.8	0.61643	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.44932	0.1317	L	0.28556	0.865	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	T	0.33752	-0.9856	9	0.41790	T	0.15	.	18.0562	0.89365	0.0:0.0:1.0:0.0	.	1078;1094;293;1067	O95428-5;O95428;O95428-2;O95428-6	.;PPN_HUMAN;.;.	N	1067;1094;1094;1078	ENSP00000345395:D1067N;ENSP00000403403:D1094N;ENSP00000451803:D1094N;ENSP00000451729:D1078N	ENSP00000345395:D1067N	D	+	1	0	PAPLN	72802978	1.000000	0.71417	0.999000	0.59377	0.988000	0.76386	4.302000	0.59092	2.503000	0.84419	0.561000	0.74099	GAT	PAPLN	-	pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like		0.622	PAPLN-002	KNOWN	basic|appris_principal	protein_coding	PAPLN	HGNC	protein_coding	OTTHUMT00000413182.1	G	NM_173462		73733225	+1	no_errors	ENST00000427855	ensembl	human	known	70_37	missense	SNP	0.997	A
PARD3B	117583	genome.wustl.edu	37	2	206265749	206265749	+	Missense_Mutation	SNP	G	G	T			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr2:206265749G>T	ENST00000406610.2	+	19	2850	c.2643G>T	c.(2641-2643)aaG>aaT	p.K881N	PARD3B_ENST00000351153.1_Missense_Mutation_p.K812N|PARD3B_ENST00000358768.2_Missense_Mutation_p.K819N|PARD3B_ENST00000349953.3_Missense_Mutation_p.K881N	NM_057177.6|NM_152526.5|NM_205863.3	NP_476518.4|NP_689739.4|NP_995585.2	Q8TEW8	PAR3L_HUMAN	par-3 family cell polarity regulator beta	881	Lys-rich.				cell cycle (GO:0007049)|cell division (GO:0051301)	membrane (GO:0016020)|tight junction (GO:0005923)				breast(1)|endometrium(9)|kidney(2)|large_intestine(6)|liver(4)|lung(33)|ovary(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	65		all_cancers(1;2.88e-06)|all_epithelial(1;3.23e-06)		Epithelial(149;0.0739)		TTGGAAAGAAGAAAGAGGATA	0.413																																																	0													78.0	76.0	77.0					2																	206265749		1871	4114	5985	SO:0001583	missense	117583			AB053321	CCDS42804.1, CCDS42805.1, CCDS42806.1	2q33.3	2013-08-28	2013-08-28	2006-09-28	ENSG00000116117	ENSG00000116117			14446	protein-coding gene	gene with protein product			"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 19"", ""par-3 partitioning defective 3 homolog B (C. elegans)"""	ALS2CR19		11586298, 12459187	Standard	NM_057177		Approved	Par3L, PAR3beta	uc002vap.2	Q8TEW8	OTTHUMG00000154562	ENST00000406610.2:c.2643G>T	2.37:g.206265749G>T	ENSP00000385848:p.Lys881Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	E9PE87|Q8IUC7|Q8IUC9|Q96DK9|Q96N09|Q96NX6|Q96NX7|Q96Q29	Missense_Mutation	SNP	pfam_DUF3534,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.K881N	ENST00000406610.2	37	c.2643		2	.	.	.	.	.	.	.	.	.	.	G	14.61	2.588167	0.46110	.	.	ENSG00000116117	ENST00000406610;ENST00000358768;ENST00000351153;ENST00000349953	T;T;T;T	0.35789	1.29;1.29;1.29;1.29	5.45	4.56	0.56223	.	0.000000	0.85682	D	0.000000	T	0.51176	0.1659	M	0.63843	1.955	0.33537	D	0.594404	D;D;D;D	0.89917	0.999;0.998;1.0;0.999	D;D;D;D	0.91635	0.991;0.991;0.999;0.994	T	0.58487	-0.7628	10	0.32370	T	0.25	.	8.2219	0.31547	0.1717:0.0:0.8283:0.0	.	881;812;819;881	Q8TEW8;E9PE87;Q8TEW8-2;Q8TEW8-5	PAR3L_HUMAN;.;.;.	N	881;819;812;881	ENSP00000385848:K881N;ENSP00000351618:K819N;ENSP00000317261:K812N;ENSP00000340280:K881N	ENSP00000340280:K881N	K	+	3	2	PARD3B	205973994	1.000000	0.71417	1.000000	0.80357	0.484000	0.33280	1.391000	0.34475	2.705000	0.92388	0.655000	0.94253	AAG	PARD3B	-	NULL		0.413	PARD3B-001	KNOWN	basic|appris_candidate_longest	protein_coding	PARD3B	HGNC	protein_coding	OTTHUMT00000335992.1	G	NM_057177		206265749	+1	no_errors	ENST00000406610	ensembl	human	known	70_37	missense	SNP	1.000	T
PARD6A	50855	genome.wustl.edu	37	16	67696338	67696338	+	Missense_Mutation	SNP	G	G	C			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr16:67696338G>C	ENST00000219255.3	+	3	909	c.829G>C	c.(829-831)Gat>Cat	p.D277H	PARD6A_ENST00000458121.2_Missense_Mutation_p.D276H|ENKD1_ENST00000602409.1_5'Flank|ACD_ENST00000393919.4_5'Flank|ACD_ENST00000219251.8_5'Flank|PARD6A_ENST00000602551.1_Missense_Mutation_p.D247H			Q9NPB6	PAR6A_HUMAN	par-6 family cell polarity regulator alpha	277					cell cycle (GO:0007049)|cell division (GO:0051301)|cell junction assembly (GO:0034329)|cell-cell junction maintenance (GO:0045217)|cell-cell junction organization (GO:0045216)|tight junction assembly (GO:0070830)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	apical part of cell (GO:0045177)|cell cortex (GO:0005938)|cell projection (GO:0042995)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|tight junction (GO:0005923)	GTP-dependent protein binding (GO:0030742)|Rho GTPase binding (GO:0017048)|transcription factor binding (GO:0008134)			central_nervous_system(1)|large_intestine(1)|lung(1)|ovary(1)|urinary_tract(2)	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)		TGCTGAGCCTGATAGTGACGA	0.632																																																	0													74.0	63.0	66.0					16																	67696338		2198	4300	6498	SO:0001583	missense	50855				CCDS10843.1, CCDS45514.1	16q22.1-q22.3	2013-08-28	2013-08-28		ENSG00000102981	ENSG00000102981			15943	protein-coding gene	gene with protein product		607484	"""par-6 (partitioning defective 6, C.elegans) homolog alpha"", ""par-6 partitioning defective 6 homolog alpha (C. elegans)"""			9482110, 11260256	Standard	XM_005255977		Approved	PAR-6, PAR-6A, TAX40, PAR6alpha, TIP-40	uc002ett.3	Q9NPB6	OTTHUMG00000137534	ENST00000219255.3:c.829G>C	16.37:g.67696338G>C	ENSP00000219255:p.Asp277His	Somatic		WXS	Illumina HiSeq	Phase_IV	O14911|Q9NPJ7	Missense_Mutation	SNP	pfam_OPR_PB1,pfam_PDZ,superfamily_PDZ,smart_OPR_PB1,smart_PDZ,pfscan_PDZ	p.D277H	ENST00000219255.3	37	c.829	CCDS10843.1	16	.	.	.	.	.	.	.	.	.	.	G	17.02	3.282778	0.59867	.	.	ENSG00000102981	ENST00000458121;ENST00000219255	T;T	0.39787	1.07;1.06	5.25	5.25	0.73442	.	0.553114	0.17827	N	0.160644	T	0.52565	0.1742	L	0.38175	1.15	0.58432	D	0.999999	D;D	0.56287	0.957;0.975	P;P	0.57720	0.674;0.826	T	0.52019	-0.8631	10	0.52906	T	0.07	-4.4801	18.4311	0.90625	0.0:0.0:1.0:0.0	.	277;276	Q9NPB6;Q9NPB6-2	PAR6A_HUMAN;.	H	276;277	ENSP00000392388:D276H;ENSP00000219255:D277H	ENSP00000219255:D277H	D	+	1	0	PARD6A	66253839	1.000000	0.71417	0.088000	0.20740	0.813000	0.45954	8.267000	0.89874	2.428000	0.82296	0.563000	0.77884	GAT	PARD6A	-	NULL		0.632	PARD6A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PARD6A	HGNC	protein_coding	OTTHUMT00000268863.2	G	NM_016948		67696338	+1	no_errors	ENST00000219255	ensembl	human	known	70_37	missense	SNP	0.995	C
PARP12	64761	genome.wustl.edu	37	7	139726044	139726044	+	Missense_Mutation	SNP	T	T	A			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr7:139726044T>A	ENST00000263549.3	-	11	2606	c.1733A>T	c.(1732-1734)aAc>aTc	p.N578I		NM_022750.2	NP_073587.1	Q9H0J9	PAR12_HUMAN	poly (ADP-ribose) polymerase family, member 12	578	PARP catalytic. {ECO:0000255|PROSITE- ProRule:PRU00397}.					nucleus (GO:0005634)	metal ion binding (GO:0046872)|NAD+ ADP-ribosyltransferase activity (GO:0003950)|poly(A) RNA binding (GO:0044822)			endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(3)|prostate(1)|skin(1)	19	Melanoma(164;0.0142)					CCAGTCAAAGTTCTGCTGGCA	0.577																																																	0													85.0	80.0	82.0					7																	139726044		2203	4300	6503	SO:0001583	missense	64761			AL136766	CCDS5857.1	7q34	2014-01-28	2005-06-02	2005-06-02	ENSG00000059378	ENSG00000059378		"""Zinc fingers, CCCH-type domain containing"", ""Poly (ADP-ribose) polymerases"""	21919	protein-coding gene	gene with protein product		612481	"""zinc finger CCCH-type domain containing 1"""	ZC3HDC1		11230166, 12851707	Standard	NM_022750		Approved	FLJ22693, PARP-12, ZC3H1	uc003vvl.1	Q9H0J9	OTTHUMG00000157315	ENST00000263549.3:c.1733A>T	7.37:g.139726044T>A	ENSP00000263549:p.Asn578Ile	Somatic		WXS	Illumina HiSeq	Phase_IV	Q9H610|Q9NP36|Q9NTI3	Missense_Mutation	SNP	pfam_Poly(ADP-ribose)pol_cat_dom,pfam_Znf_CCCH,smart_Znf_CCCH,pfscan_WWE-dom,pfscan_Poly(ADP-ribose)pol_cat_dom	p.N578I	ENST00000263549.3	37	c.1733	CCDS5857.1	7	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	T|T|T	16.64|16.64|16.64	3.180785|3.180785|3.180785	0.57800|0.57800|0.57800	.|.|.	.|.|.	ENSG00000059378|ENSG00000059378|ENSG00000059378	ENST00000489809|ENST00000263549|ENST00000484111	T|T|.	0.49432|0.15256|.	0.78|2.44|.	4.86|4.86|4.86	4.86|4.86|4.86	0.63082|0.63082|0.63082	.|Poly(ADP-ribose) polymerase, catalytic domain (2);|.	.|0.000000|.	.|0.85682|.	.|D|.	.|0.000000|.	D|D|D	0.85124|0.85124|0.85124	0.5625|0.5625|0.5625	M|M|M	0.93462|0.93462|0.93462	3.42|3.42|3.42	0.80722|0.80722|0.80722	D|D|D	1|1|1	.|D|.	.|0.89917|.	.|1.0|.	.|D|.	.|0.97110|.	.|1.0|.	D|D|D	0.89313|0.89313|0.89313	0.3634|0.3634|0.3634	7|10|5	0.87932|0.87932|.	D|D|.	0|0|.	.|.|.	14.4544|14.4544|14.4544	0.67407|0.67407|0.67407	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.|.	.|578|.	.|Q9H0J9|.	.|PAR12_HUMAN|.	D|I|S	172|578|50	ENSP00000417606:E172D|ENSP00000263549:N578I|.	ENSP00000417606:E172D|ENSP00000263549:N578I|.	E|N|T	-|-|-	3|2|1	2|0|0	PARP12|PARP12|PARP12	139372513|139372513|139372513	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.885000|0.885000|0.885000	0.51271|0.51271|0.51271	7.967000|7.967000|7.967000	0.87967|0.87967|0.87967	1.834000|1.834000|1.834000	0.53371|0.53371|0.53371	0.383000|0.383000|0.383000	0.25322|0.25322|0.25322	GAA|AAC|ACT	PARP12	-	pfam_Poly(ADP-ribose)pol_cat_dom,pfscan_Poly(ADP-ribose)pol_cat_dom		0.577	PARP12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PARP12	HGNC	protein_coding	OTTHUMT00000348413.1	T	NM_022750		139726044	-1	no_errors	ENST00000263549	ensembl	human	known	70_37	missense	SNP	1.000	A
PARP14	54625	genome.wustl.edu	37	3	122437682	122437682	+	Missense_Mutation	SNP	G	G	C			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr3:122437682G>C	ENST00000474629.2	+	14	4950	c.4684G>C	c.(4684-4686)Gaa>Caa	p.E1562Q	PARP14_ENST00000475640.1_3'UTR	NM_017554.2	NP_060024.2	Q460N5	PAR14_HUMAN	poly (ADP-ribose) polymerase family, member 14	1562	WWE. {ECO:0000255|PROSITE- ProRule:PRU00248}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	NAD+ ADP-ribosyltransferase activity (GO:0003950)			NS(2)|breast(5)|cervix(2)|endometrium(7)|kidney(5)|large_intestine(8)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(1)	50				GBM - Glioblastoma multiforme(114;0.0531)		TGCAAGGAGAGAAAAGAAAAA	0.353																																																	0													100.0	99.0	99.0					3																	122437682		1884	4122	6006	SO:0001583	missense	54625			AB033094	CCDS46894.1	3q21	2010-02-16			ENSG00000173193	ENSG00000173193		"""Poly (ADP-ribose) polymerases"""	29232	protein-coding gene	gene with protein product		610028				15273990	Standard	NM_017554		Approved	KIAA1268, pART8	uc003efq.4	Q460N5	OTTHUMG00000159552	ENST00000474629.2:c.4684G>C	3.37:g.122437682G>C	ENSP00000418194:p.Glu1562Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	B4E2H0|Q460N4|Q8J027|Q9H9X9|Q9NV60|Q9ULF2	Missense_Mutation	SNP	pfam_A1pp,pfam_Poly(ADP-ribose)pol_cat_dom,pfam_WWE-dom,smart_A1pp,pfscan_A1pp,pfscan_WWE-dom,pfscan_Poly(ADP-ribose)pol_cat_dom	p.E1562Q	ENST00000474629.2	37	c.4684	CCDS46894.1	3	.	.	.	.	.	.	.	.	.	.	G	5.547	0.285726	0.10513	.	.	ENSG00000173193	ENST00000474629;ENST00000398162;ENST00000310290;ENST00000398157	T	0.30182	1.54	5.23	0.141	0.14811	WWE domain (2);	1.449480	0.04028	N	0.300953	T	0.17704	0.0425	N	0.21142	0.635	0.09310	N	1	B;B	0.16802	0.019;0.002	B;B	0.12837	0.008;0.005	T	0.13899	-1.0492	10	0.16420	T	0.52	.	1.8465	0.03161	0.3285:0.131:0.4155:0.1251	.	1562;1562	Q460N5-4;Q460N5	.;PAR14_HUMAN	Q	1562;1481;165;558	ENSP00000418194:E1562Q	ENSP00000310633:E165Q	E	+	1	0	PARP14	123920372	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.310000	0.08135	-0.163000	0.10946	-0.142000	0.14014	GAA	PARP14	-	pfam_WWE-dom,pfscan_WWE-dom		0.353	PARP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PARP14	HGNC	protein_coding	OTTHUMT00000356173.2	G	NM_017554		122437682	+1	no_errors	ENST00000474629	ensembl	human	known	70_37	missense	SNP	0.000	C
PARVB	29780	genome.wustl.edu	37	22	44514992	44514992	+	Nonsense_Mutation	SNP	T	T	A			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr22:44514992T>A	ENST00000338758.7	+	4	411	c.348T>A	c.(346-348)taT>taA	p.Y116*	PARVB_ENST00000404989.1_Nonsense_Mutation_p.Y79*|PARVB_ENST00000406477.3_Nonsense_Mutation_p.Y149*	NM_013327.4	NP_037459.2	Q9HBI1	PARVB_HUMAN	parvin, beta	116	CH 1. {ECO:0000255|PROSITE- ProRule:PRU00044}.				actin cytoskeleton reorganization (GO:0031532)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell projection assembly (GO:0030031)|establishment or maintenance of cell polarity regulating cell shape (GO:0071963)|lamellipodium assembly (GO:0030032)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)				NS(1)|breast(1)|endometrium(3)|large_intestine(7)|lung(8)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	25		Ovarian(80;0.0246)|all_neural(38;0.0423)				AAGACCTGTATGACGGCCAGG	0.602																																																	0													177.0	154.0	161.0					22																	44514992		2203	4300	6503	SO:0001587	stop_gained	29780			AF151814	CCDS14056.1, CCDS46724.1, CCDS58808.1, CCDS74874.1	22q13.2-q13.33	2013-01-24			ENSG00000188677	ENSG00000188677		"""Parvins"""	14653	protein-coding gene	gene with protein product	"""affixin"""	608121				10810093, 11171322	Standard	NM_001003828		Approved	CGI-56	uc003ben.3	Q9HBI1	OTTHUMG00000150665	ENST00000338758.7:c.348T>A	22.37:g.44514992T>A	ENSP00000342492:p.Tyr116*	Somatic		WXS	Illumina HiSeq	Phase_IV	B0QYM8|B0QYN1|B2R9X6|Q5TGJ5|Q86X93|Q96PN1|Q9NSP7|Q9UGT3|Q9Y368|Q9Y3L6|Q9Y3L7	Nonsense_Mutation	SNP	pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain	p.Y149*	ENST00000338758.7	37	c.447	CCDS14056.1	22	.	.	.	.	.	.	.	.	.	.	C	11.02	1.514867	0.27123	.	.	ENSG00000188677	ENST00000406477;ENST00000338758;ENST00000402876;ENST00000444029;ENST00000404989	.	.	.	4.92	-4.73	0.03259	.	0.125095	0.56097	D	0.000025	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-2.2594	13.2763	0.60189	0.0:0.2244:0.0:0.7756	.	.	.	.	X	149;116;116;114;79	.	ENSP00000342492:Y116X	Y	+	3	2	PARVB	42846325	0.025000	0.19082	0.220000	0.23810	0.010000	0.07245	-1.015000	0.03637	-1.048000	0.03238	-3.356000	0.00042	TAT	PARVB	-	pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain		0.602	PARVB-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PARVB	HGNC	protein_coding	OTTHUMT00000319518.2	T	NM_001003828		44514992	+1	no_errors	ENST00000406477	ensembl	human	known	70_37	nonsense	SNP	0.890	A
PAX1	5075	genome.wustl.edu	37	20	21686449	21686449	+	Silent	SNP	C	C	T			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr20:21686449C>T	ENST00000398485.2	+	1	153	c.99C>T	c.(97-99)ctC>ctT	p.L33L	PAX1_ENST00000444366.2_5'Flank|PAX1_ENST00000460221.1_Intron	NM_001257096.1|NM_006192.4	NP_001244025.1|NP_006183.2	P15863	PAX1_HUMAN	paired box 1	33					bone morphogenesis (GO:0060349)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|CD8-positive, alpha-beta T cell differentiation (GO:0043374)|cell proliferation (GO:0008283)|parathyroid gland development (GO:0060017)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|sclerotome development (GO:0061056)|skeletal system development (GO:0001501)|somitogenesis (GO:0001756)|thymus development (GO:0048538)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)			autonomic_ganglia(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(21)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	38						GCAGCGCGCTCCGCTGCCGCG	0.786																																																	0													2.0	2.0	2.0					20																	21686449		575	1359	1934	SO:0001819	synonymous_variant	5075				CCDS13146.2, CCDS74709.1	20p11.22	2007-07-12	2007-07-12		ENSG00000125813	ENSG00000125813		"""Paired boxes"""	8615	protein-coding gene	gene with protein product		167411	"""paired box gene 1"""			1358810	Standard	NM_006192		Approved		uc002wsj.3	P15863	OTTHUMG00000032034	ENST00000398485.2:c.99C>T	20.37:g.21686449C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B4E0D6|Q642X9|Q6NTC0|Q9Y558	Silent	SNP	pfam_Paired_dom,superfamily_Homeodomain-like,smart_Paired_dom,pfscan_Paired_dom,prints_Paired_dom	p.L33	ENST00000398485.2	37	c.99	CCDS13146.2	20																																																																																			PAX1	-	NULL		0.786	PAX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PAX1	HGNC	protein_coding	OTTHUMT00000078282.3	C			21686449	+1	no_errors	ENST00000398485	ensembl	human	known	70_37	silent	SNP	0.003	T
PAX9	5083	genome.wustl.edu	37	14	37131133	37131133	+	5'UTR	SNP	C	C	T			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr14:37131133C>T	ENST00000361487.6	+	0	64				PAX9_ENST00000554201.1_5'Flank|PAX9_ENST00000402703.2_5'UTR			P55771	PAX9_HUMAN	paired box 9						cellular response to growth factor stimulus (GO:0071363)|endoderm development (GO:0007492)|face morphogenesis (GO:0060325)|negative regulation of transcription, DNA-templated (GO:0045892)|odontogenesis (GO:0042476)|regulation of odontogenesis (GO:0042481)	nucleus (GO:0005634)	RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(3)	12	Hepatocellular(127;0.158)|Esophageal squamous(585;0.164)|Breast(36;0.218)		Lung(8;1.12e-09)|LUAD - Lung adenocarcinoma(9;2.16e-07)|Epithelial(34;0.00357)|all cancers(34;0.00998)|LUSC - Lung squamous cell carcinoma(13;0.0189)	GBM - Glioblastoma multiforme(112;0.0181)		GCACAGACTTCCTTTTACTTC	0.612																																																	0																																										SO:0001623	5_prime_UTR_variant	5083			AJ238381	CCDS9662.1	14q13.3	2007-07-12	2007-07-12		ENSG00000198807	ENSG00000198807		"""Paired boxes"""	8623	protein-coding gene	gene with protein product		167416	"""paired box gene 9"""			7981748	Standard	NM_006194		Approved		uc001wty.4	P55771	OTTHUMG00000140251	ENST00000361487.6:c.-162C>T	14.37:g.37131133C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q99582|Q9UQR4	RNA	SNP	-	NULL	ENST00000361487.6	37	NULL	CCDS9662.1	14																																																																																			PAX9	-	-		0.612	PAX9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PAX9	HGNC	protein_coding	OTTHUMT00000276733.2	C			37131133	+1	no_errors	ENST00000553267	ensembl	human	putative	70_37	rna	SNP	1.000	T
PCDH10	57575	genome.wustl.edu	37	4	134072174	134072174	+	Missense_Mutation	SNP	T	T	G			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr4:134072174T>G	ENST00000264360.5	+	1	1705	c.879T>G	c.(877-879)atT>atG	p.I293M	RP11-9G1.3_ENST00000505289.1_lincRNA	NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10	293	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		GCAGCCACATTTCGCCCCGGG	0.622																																																	0													45.0	49.0	48.0					4																	134072174		2203	4300	6503	SO:0001583	missense	57575			AB037821	CCDS34063.1, CCDS75192.1	4q28.3	2010-01-26				ENSG00000138650		"""Cadherins / Protocadherins : Non-clustered"""	13404	protein-coding gene	gene with protein product		608286				10835267	Standard	NM_020815		Approved	OL-PCDH, KIAA1400	uc003iha.3	Q9P2E7		ENST00000264360.5:c.879T>G	4.37:g.134072174T>G	ENSP00000264360:p.Ile293Met	Somatic		WXS	Illumina HiSeq	Phase_IV	Q4W5F6|Q96SF0	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.I293M	ENST00000264360.5	37	c.879	CCDS34063.1	4	.	.	.	.	.	.	.	.	.	.	T	9.710	1.156745	0.21454	.	.	ENSG00000138650	ENST00000264360;ENST00000394248	T	0.51817	0.69	4.33	-0.424	0.12321	Cadherin (4);Cadherin-like (1);	0.000000	0.45867	D	0.000323	T	0.35885	0.0947	N	0.13043	0.29	0.28136	N	0.929986	D;B	0.61080	0.989;0.033	P;B	0.55222	0.771;0.145	T	0.31586	-0.9938	10	0.49607	T	0.09	.	5.732	0.18045	0.0:0.5242:0.1631:0.3127	.	293;293	Q9P2E7;Q96SF0	PCD10_HUMAN;.	M	293	ENSP00000264360:I293M	ENSP00000264360:I293M	I	+	3	3	PCDH10	134291624	0.100000	0.21855	0.992000	0.48379	0.119000	0.20118	-0.678000	0.05209	-0.333000	0.08476	-0.473000	0.04963	ATT	PCDH10	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.622	PCDH10-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	PCDH10	HGNC	protein_coding	OTTHUMT00000364457.2	T	NM_032961		134072174	+1	no_errors	ENST00000264360	ensembl	human	known	70_37	missense	SNP	0.976	G
PCDH9	5101	genome.wustl.edu	37	13	67477724	67477724	+	Missense_Mutation	SNP	C	C	T			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr13:67477724C>T	ENST00000377865.2	-	2	3184	c.3050G>A	c.(3049-3051)aGc>aAc	p.S1017N	PCDH9_ENST00000328454.5_Intron|PCDH9_ENST00000544246.1_Missense_Mutation_p.S1017N|PCDH9-AS2_ENST00000419371.2_RNA|PCDH9_ENST00000456367.1_Intron			Q9HC56	PCDH9_HUMAN	protocadherin 9	1017					forebrain development (GO:0030900)|homophilic cell adhesion (GO:0007156)	cell-cell contact zone (GO:0044291)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	103		Hepatocellular(98;0.0906)|Breast(118;0.107)		GBM - Glioblastoma multiforme(99;0.00819)		GTCACTTTTGCTGTGTGAGTT	0.413																																																	0													108.0	99.0	102.0					13																	67477724		2203	4300	6503	SO:0001583	missense	5101			AF169692	CCDS9443.1, CCDS9444.1	13q21.32	2010-02-22			ENSG00000184226	ENSG00000184226		"""Cadherins / Protocadherins : Non-clustered"""	8661	protein-coding gene	gene with protein product		603581				9787079	Standard	NM_020403		Approved		uc001vik.3	Q9HC56	OTTHUMG00000017040	ENST00000377865.2:c.3050G>A	13.37:g.67477724C>T	ENSP00000367096:p.Ser1017Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	A2A6U1|Q5VT83|Q7Z3U0|Q8N3K7	Missense_Mutation	SNP	pfam_Cadherin,pfam_Protocadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.S1017N	ENST00000377865.2	37	c.3050	CCDS9444.1	13	.	.	.	.	.	.	.	.	.	.	C	12.10	1.835643	0.32421	.	.	ENSG00000184226	ENST00000544246;ENST00000377865	T;T	0.51325	0.71;0.71	5.5	3.78	0.43462	.	0.245363	0.29362	N	0.012367	T	0.24547	0.0595	N	0.08118	0	0.80722	D	1	B;B	0.19445	0.036;0.031	B;B	0.15484	0.013;0.005	T	0.04065	-1.0980	10	0.26408	T	0.33	.	8.309	0.32060	0.0:0.8194:0.0:0.1806	.	1017;1017	B7ZM79;Q9HC56	.;PCDH9_HUMAN	N	1017	ENSP00000442186:S1017N;ENSP00000367096:S1017N	ENSP00000367096:S1017N	S	-	2	0	PCDH9	66375725	0.995000	0.38212	1.000000	0.80357	0.996000	0.88848	0.090000	0.15025	0.698000	0.31739	-0.140000	0.14226	AGC	PCDH9	-	NULL		0.413	PCDH9-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PCDH9	HGNC	protein_coding	OTTHUMT00000276387.1	C	NM_203487		67477724	-1	no_errors	ENST00000377865	ensembl	human	known	70_37	missense	SNP	1.000	T
PCDHB5	26167	genome.wustl.edu	37	5	140515550	140515550	+	Missense_Mutation	SNP	T	T	A			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr5:140515550T>A	ENST00000231134.5	+	1	751	c.534T>A	c.(532-534)ttT>ttA	p.F178L		NM_015669.2	NP_056484.1	Q9Y5E4	PCDB5_HUMAN	protocadherin beta 5	178	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	81			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ATTCACACTTTCATGTTGCTA	0.512																																																	0													93.0	95.0	94.0					5																	140515550		2203	4300	6503	SO:0001583	missense	26167			AF152498	CCDS4247.1	5q31	2010-01-26			ENSG00000113209	ENSG00000113209		"""Cadherins / Protocadherins : Clustered"""	8690	other	protocadherin		606331				10380929	Standard	NM_015669		Approved	DKFZp586B0217, PCDH-BETA5	uc003liq.3	Q9Y5E4	OTTHUMG00000129616	ENST00000231134.5:c.534T>A	5.37:g.140515550T>A	ENSP00000231134:p.Phe178Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	Q549F4|Q9UFU9	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.F178L	ENST00000231134.5	37	c.534	CCDS4247.1	5	.	.	.	.	.	.	.	.	.	.	T	12.71	2.019438	0.35606	.	.	ENSG00000113209	ENST00000231134	T	0.70749	-0.51	5.18	-1.83	0.07833	Cadherin (4);Cadherin-like (1);	.	.	.	.	D	0.83482	0.5264	H	0.97103	3.94	0.23515	N	0.997515	B	0.27823	0.19	B	0.42851	0.4	T	0.80732	-0.1251	9	0.87932	D	0	.	10.7406	0.46152	0.0:0.6992:0.0:0.3008	.	178	Q9Y5E4	PCDB5_HUMAN	L	178	ENSP00000231134:F178L	ENSP00000231134:F178L	F	+	3	2	PCDHB5	140495734	0.000000	0.05858	0.278000	0.24718	0.139000	0.21198	-0.622000	0.05553	-0.144000	0.11314	-0.388000	0.06559	TTT	PCDHB5	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.512	PCDHB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHB5	HGNC	protein_coding	OTTHUMT00000251811.1	T	NM_015669		140515550	+1	no_errors	ENST00000231134	ensembl	human	known	70_37	missense	SNP	0.163	A
PCDHGA3	56112	genome.wustl.edu	37	5	140725511	140725511	+	Silent	SNP	G	G	A			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr5:140725511G>A	ENST00000253812.6	+	1	1911	c.1911G>A	c.(1909-1911)gcG>gcA	p.A637A	PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron	NM_018916.3|NM_032011.1	NP_061739.2|NP_114400.1	Q9Y5H0	PCDG3_HUMAN	protocadherin gamma subfamily A, 3	637	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)	1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACAGAGACGCGCTCAAGCAGA	0.701																																																	0													12.0	19.0	17.0					5																	140725511		2108	4222	6330	SO:0001819	synonymous_variant	56112			AF152510	CCDS47290.1, CCDS75329.1	5q31	2010-01-26			ENSG00000254245	ENSG00000254245		"""Cadherins / Protocadherins : Clustered"""	8701	other	protocadherin		606290				10380929	Standard	NM_032011		Approved	PCDH-GAMMA-A3		Q9Y5H0	OTTHUMG00000163680	ENST00000253812.6:c.1911G>A	5.37:g.140725511G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q9Y5D4	Silent	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.A637	ENST00000253812.6	37	c.1911	CCDS47290.1	5																																																																																			PCDHGA3	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.701	PCDHGA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHGA3	HGNC	protein_coding	OTTHUMT00000377017.1	G	NM_018916		140725511	+1	no_errors	ENST00000253812	ensembl	human	known	70_37	silent	SNP	0.000	A
PCDHGA5	56110	genome.wustl.edu	37	5	140744600	140744600	+	Missense_Mutation	SNP	G	G	A			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr5:140744600G>A	ENST00000518069.1	+	1	703	c.703G>A	c.(703-705)Gca>Aca	p.A235T	PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron	NM_018918.2|NM_032054.1	NP_061741.1|NP_114443.1	Q9Y5G8	PCDG5_HUMAN	protocadherin gamma subfamily A, 5	235	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(5)|upper_aerodigestive_tract(3)	18			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGTCCTCGACGCAAACGACAA	0.592																																																	0													82.0	83.0	83.0					5																	140744600		2081	4218	6299	SO:0001583	missense	56110			AF152512	CCDS54925.1, CCDS75333.1	5q31	2010-01-26				ENSG00000253485		"""Cadherins / Protocadherins : Clustered"""	8703	other	protocadherin	"""cadherin ME3"""	606292				10380929	Standard	NM_018918		Approved	CDH-GAMMA-A5, ME3, PCDH-GAMMA-A5		Q9Y5G8		ENST00000518069.1:c.703G>A	5.37:g.140744600G>A	ENSP00000429834:p.Ala235Thr	Somatic		WXS	Illumina HiSeq	Phase_IV	Q2M3F5|Q9Y5D2	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.A235T	ENST00000518069.1	37	c.703	CCDS54925.1	5	.	.	.	.	.	.	.	.	.	.	.	7.217	0.596605	0.13875	.	.	ENSG00000253485	ENST00000518069	T	0.01767	4.65	5.4	4.53	0.55603	Cadherin (3);Cadherin conserved site (1);Cadherin-like (1);	.	.	.	.	T	0.01695	0.0054	L	0.33624	1.015	0.09310	N	1	B;B	0.34313	0.448;0.181	B;B	0.25884	0.064;0.021	T	0.50189	-0.8857	9	0.34782	T	0.22	.	9.3049	0.37870	0.074:0.0:0.7832:0.1428	.	235;235	Q9Y5G8-2;Q9Y5G8	.;PCDG5_HUMAN	T	235	ENSP00000429834:A235T	ENSP00000429834:A235T	A	+	1	0	PCDHGA5	140724784	0.136000	0.22515	0.909000	0.35828	0.140000	0.21249	2.758000	0.47565	1.417000	0.47077	0.467000	0.42956	GCA	PCDHGA5	-	superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.592	PCDHGA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHGA5	HGNC	protein_coding	OTTHUMT00000374742.1	G	NM_018918		140744600	+1	no_errors	ENST00000518069	ensembl	human	known	70_37	missense	SNP	0.180	A
PCDHGA8	9708	genome.wustl.edu	37	5	140774212	140774212	+	Missense_Mutation	SNP	C	C	T			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr5:140774212C>T	ENST00000398604.2	+	1	1832	c.1832C>T	c.(1831-1833)gCc>gTc	p.A611V	PCDHGA6_ENST00000517434.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB1_ENST00000523390.1_Intron	NM_032088.1	NP_114477.1	Q9Y5G5	PCDG8_HUMAN	protocadherin gamma subfamily A, 8	611	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(6)|kidney(6)|large_intestine(6)|lung(30)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	51			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CTGCTCAAGGCCAGCGAGCCG	0.692																																																	0													23.0	29.0	27.0					5																	140774212		2172	4231	6403	SO:0001583	missense	9708			AF152515	CCDS47291.1, CCDS75338.1	5q31	2010-01-26			ENSG00000253767	ENSG00000253767		"""Cadherins / Protocadherins : Clustered"""	8706	other	protocadherin		606295				10380929	Standard	NM_014004		Approved	KIAA0327, PCDH-GAMMA-A8		Q9Y5G5	OTTHUMG00000164053	ENST00000398604.2:c.1832C>T	5.37:g.140774212C>T	ENSP00000381605:p.Ala611Val	Somatic		WXS	Illumina HiSeq	Phase_IV	A7MCZ4|O15039	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.A611V	ENST00000398604.2	37	c.1832	CCDS47291.1	5	.	.	.	.	.	.	.	.	.	.	.	17.16	3.317644	0.60524	.	.	ENSG00000253767	ENST00000398604	T	0.51817	0.69	4.96	3.88	0.44766	Cadherin (4);Cadherin-like (1);	0.000000	0.31010	U	0.008437	T	0.55545	0.1927	M	0.76170	2.325	0.27669	N	0.946817	P;P	0.44044	0.825;0.791	P;B	0.50162	0.633;0.331	T	0.55366	-0.8152	10	0.87932	D	0	.	8.9488	0.35776	0.1502:0.76:0.0:0.0897	.	611;611	Q9Y5G5;Q9Y5G5-2	PCDG8_HUMAN;.	V	611	ENSP00000381605:A611V	ENSP00000381605:A611V	A	+	2	0	PCDHGA8	140754396	0.868000	0.29978	1.000000	0.80357	0.947000	0.59692	2.988000	0.49386	2.308000	0.77769	0.655000	0.94253	GCC	PCDHGA8	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.692	PCDHGA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHGA8	HGNC	protein_coding	OTTHUMT00000376972.1	C	NM_032088		140774212	+1	no_errors	ENST00000398604	ensembl	human	known	70_37	missense	SNP	1.000	T
PCDHGA9	56107	genome.wustl.edu	37	5	140784703	140784703	+	Silent	SNP	C	C	A			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr5:140784703C>A	ENST00000573521.1	+	1	2184	c.2184C>A	c.(2182-2184)acC>acA	p.T728T	PCDHGA6_ENST00000517434.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB1_ENST00000523390.1_Intron	NM_018921.2|NM_032089.1	NP_061744.1|NP_114478.1	Q9Y5G4	PCDG9_HUMAN	protocadherin gamma subfamily A, 9	728					homophilic cell adhesion (GO:0007156)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGCGGGCTACCAGTGATGGGT	0.587																																																	0													65.0	72.0	70.0					5																	140784703		2159	4284	6443	SO:0001819	synonymous_variant	56107			AF152516	CCDS58981.1, CCDS75341.1	5q31	2010-01-26						"""Cadherins / Protocadherins : Clustered"""	8707	other	protocadherin		606296				10380929	Standard	NM_018921		Approved	PCDH-GAMMA-A9		Q9Y5G4		ENST00000573521.1:c.2184C>A	5.37:g.140784703C>A		Somatic		WXS	Illumina HiSeq	Phase_IV	A2RU65|Q9Y5C9	Silent	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.T728	ENST00000573521.1	37	c.2184	CCDS58981.1	5																																																																																			PCDHGA9	-	NULL		0.587	PCDHGA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHGA9	HGNC	protein_coding	OTTHUMT00000437105.1	C	NM_018921		140784703	+1	no_errors	ENST00000573521	ensembl	human	known	70_37	silent	SNP	0.000	A
PCLO	27445	genome.wustl.edu	37	7	82595784	82595784	+	Nonsense_Mutation	SNP	A	A	C			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr7:82595784A>C	ENST00000333891.9	-	4	3657	c.3320T>G	c.(3319-3321)tTa>tGa	p.L1107*	PCLO_ENST00000423517.2_Nonsense_Mutation_p.L1107*	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein											breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						TTGGCAATTTAAACAAAGCCA	0.383																																																	0													87.0	85.0	86.0					7																	82595784		1929	4144	6073	SO:0001587	stop_gained	27445			AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"""aczonin"""	604918	"""piccolo (presynaptic cytomatrix protein)"""			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.3320T>G	7.37:g.82595784A>C	ENSP00000334319:p.Leu1107*	Somatic		WXS	Illumina HiSeq	Phase_IV		Nonsense_Mutation	SNP	pfam_Znf_piccolo,pfam_C2_Ca-dep,pfam_PDZ,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_PDZ,superfamily_Znf_FYVE_PHD,smart_PDZ,smart_C2_Ca-dep,pfscan_C2_membr_targeting,pfscan_PDZ	p.L1107*	ENST00000333891.9	37	c.3320	CCDS47630.1	7	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	44|44	10.762885|10.762885	0.99463|0.99463	.|.	.|.	ENSG00000186472|ENSG00000186472	ENST00000431819|ENST00000333891;ENST00000423517	.|.	.|.	.|.	5.49|5.49	5.49|5.49	0.81192|0.81192	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|0.87932	.|D	.|0	.|.	15.8874|15.8874	0.79261|0.79261	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|.	.|.	.|.	.|X	-1|1107	.|.	.|ENSP00000334319:L1107X	.|L	-|-	.|2	.|0	PCLO|PCLO	82433720|82433720	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.975000|0.975000	0.68041|0.68041	8.873000|8.873000	0.92357|0.92357	2.193000|2.193000	0.70182|0.70182	0.482000|0.482000	0.46254|0.46254	.|TTA	PCLO	-	pfam_Znf_piccolo,superfamily_Znf_FYVE_PHD		0.383	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	PCLO	HGNC	protein_coding	OTTHUMT00000337368.5	A	NM_014510		82595784	-1	no_errors	ENST00000333891	ensembl	human	known	70_37	nonsense	SNP	1.000	C
PCSK5	5125	genome.wustl.edu	37	9	78855546	78855546	+	Missense_Mutation	SNP	C	C	T			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr9:78855546C>T	ENST00000545128.1	+	24	3626	c.3088C>T	c.(3088-3090)Cca>Tca	p.P1030S		NM_001190482.1	NP_001177411.1	Q92824	PCSK5_HUMAN	proprotein convertase subtilisin/kexin type 5	1030	CRM (Cys-rich motif).				anterior/posterior pattern specification (GO:0009952)|cell-cell signaling (GO:0007267)|cytokine biosynthetic process (GO:0042089)|embryo implantation (GO:0007566)|embryonic digestive tract development (GO:0048566)|embryonic skeletal system development (GO:0048706)|heart development (GO:0007507)|kidney development (GO:0001822)|limb morphogenesis (GO:0035108)|nerve growth factor processing (GO:0032455)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptide biosynthetic process (GO:0043043)|peptide hormone processing (GO:0016486)|protein processing (GO:0016485)|renin secretion into blood stream (GO:0002001)|respiratory tube development (GO:0030323)|signal peptide processing (GO:0006465)|viral life cycle (GO:0019058)	extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|secretory granule (GO:0030141)	peptidase activity (GO:0008233)|peptide binding (GO:0042277)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						AGTCCAAGACCCAGACTATGA	0.423																																																	0													19.0	17.0	17.0					9																	78855546		875	1988	2863	SO:0001583	missense	5125				CCDS6652.1, CCDS55320.1	9q21.13	2013-09-24			ENSG00000099139	ENSG00000099139			8747	protein-coding gene	gene with protein product		600488				7782070	Standard	NM_001190482		Approved	PC5, PC6, SPC6	uc004akc.2	Q92824	OTTHUMG00000020039	ENST00000545128.1:c.3088C>T	9.37:g.78855546C>T	ENSP00000446280:p.Pro1030Ser	Somatic		WXS	Illumina HiSeq	Phase_IV	F5H2G7|Q13527|Q96EP4	Missense_Mutation	SNP	pfam_Peptidase_S8/S53,pfam_PrprotnconvertsP,superfamily_Peptidase_S8/S53,superfamily_Galactose-bd-like,superfamily_Growth_fac_rcpt,superfamily_Prot_inh_propept,smart_Furin_repeat,smart_EG-like_dom,prints_Peptidase_S8_subtilisin-rel	p.P1030S	ENST00000545128.1	37	c.3088	CCDS55320.1	9	.	.	.	.	.	.	.	.	.	.	C	11.77	1.736343	0.30774	.	.	ENSG00000099139	ENST00000545128;ENST00000376754;ENST00000424854	T;T	0.47528	0.84;1.69	4.88	3.77	0.43336	.	0.279255	0.36134	N	0.002777	T	0.29223	0.0727	L	0.28192	0.835	0.26037	N	0.981651	.	.	.	.	.	.	T	0.21759	-1.0236	8	0.07325	T	0.83	-3.7585	7.9441	0.29976	0.0:0.8472:0.0:0.1528	.	.	.	.	S	1030;733;703	ENSP00000446280:P1030S;ENSP00000411654:P703S	ENSP00000365945:P733S	P	+	1	0	PCSK5	78045366	0.981000	0.34729	0.998000	0.56505	0.983000	0.72400	2.059000	0.41384	0.980000	0.38523	0.655000	0.94253	CCA	PCSK5	-	superfamily_Growth_fac_rcpt		0.423	PCSK5-201	KNOWN	basic|appris_principal|CCDS	protein_coding	PCSK5	HGNC	protein_coding		C			78855546	+1	no_errors	ENST00000545128	ensembl	human	known	70_37	missense	SNP	0.998	T
PCSK5	5125	genome.wustl.edu	37	9	78973574	78973574	+	Silent	SNP	A	A	T			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr9:78973574A>T	ENST00000545128.1	+	37	5857	c.5319A>T	c.(5317-5319)ccA>ccT	p.P1773P		NM_001190482.1	NP_001177411.1	Q92824	PCSK5_HUMAN	proprotein convertase subtilisin/kexin type 5	1773					anterior/posterior pattern specification (GO:0009952)|cell-cell signaling (GO:0007267)|cytokine biosynthetic process (GO:0042089)|embryo implantation (GO:0007566)|embryonic digestive tract development (GO:0048566)|embryonic skeletal system development (GO:0048706)|heart development (GO:0007507)|kidney development (GO:0001822)|limb morphogenesis (GO:0035108)|nerve growth factor processing (GO:0032455)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptide biosynthetic process (GO:0043043)|peptide hormone processing (GO:0016486)|protein processing (GO:0016485)|renin secretion into blood stream (GO:0002001)|respiratory tube development (GO:0030323)|signal peptide processing (GO:0006465)|viral life cycle (GO:0019058)	extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|secretory granule (GO:0030141)	peptidase activity (GO:0008233)|peptide binding (GO:0042277)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(7)|liver(2)|lung(25)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	55						GAGTCCAGCCAGCAGCAAAGG	0.527																																																	0													84.0	81.0	82.0					9																	78973574		876	1991	2867	SO:0001819	synonymous_variant	5125				CCDS6652.1, CCDS55320.1	9q21.13	2013-09-24			ENSG00000099139	ENSG00000099139			8747	protein-coding gene	gene with protein product		600488				7782070	Standard	NM_001190482		Approved	PC5, PC6, SPC6	uc004akc.2	Q92824	OTTHUMG00000020039	ENST00000545128.1:c.5319A>T	9.37:g.78973574A>T		Somatic		WXS	Illumina HiSeq	Phase_IV	F5H2G7|Q13527|Q96EP4	Silent	SNP	pfam_Peptidase_S8/S53,pfam_PrprotnconvertsP,superfamily_Peptidase_S8/S53,superfamily_Galactose-bd-like,superfamily_Growth_fac_rcpt,superfamily_Prot_inh_propept,smart_Furin_repeat,smart_EG-like_dom,prints_Peptidase_S8_subtilisin-rel	p.P1773	ENST00000545128.1	37	c.5319	CCDS55320.1	9																																																																																			PCSK5	-	NULL		0.527	PCSK5-201	KNOWN	basic|appris_principal|CCDS	protein_coding	PCSK5	HGNC	protein_coding		A			78973574	+1	no_errors	ENST00000545128	ensembl	human	known	70_37	silent	SNP	0.000	T
PDCD10	11235	genome.wustl.edu	37	3	167405449	167405449	+	Missense_Mutation	SNP	T	T	C			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr3:167405449T>C	ENST00000392750.2	-	7	845	c.428A>G	c.(427-429)gAt>gGt	p.D143G	PDCD10_ENST00000473645.2_Missense_Mutation_p.D143G|PDCD10_ENST00000492396.1_Missense_Mutation_p.D80G|PDCD10_ENST00000487947.2_Missense_Mutation_p.D143G|PDCD10_ENST00000470131.1_Missense_Mutation_p.D143G|PDCD10_ENST00000461494.1_Missense_Mutation_p.D143G|PDCD10_ENST00000497056.2_Missense_Mutation_p.D143G|PDCD10_ENST00000471885.1_Missense_Mutation_p.D143G	NM_007217.3	NP_009148.2	Q9BUL8	PDC10_HUMAN	programmed cell death 10	143					angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|negative regulation of apoptotic process (GO:0043066)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)|protein N-terminus binding (GO:0047485)			central_nervous_system(1)|kidney(1)|lung(8)|urinary_tract(2)	12						ATTCACTGTATCAAGAAGTTC	0.363																																																	0													104.0	98.0	100.0					3																	167405449		2203	4299	6502	SO:0001583	missense	11235			AF022385	CCDS3202.1	3q26.1	2014-09-17			ENSG00000114209	ENSG00000114209			8761	protein-coding gene	gene with protein product		609118	"""cerebral cavernous malformations 3"""	CCM3		15543491	Standard	NM_007217		Approved	TFAR15	uc003fez.3	Q9BUL8	OTTHUMG00000158415	ENST00000392750.2:c.428A>G	3.37:g.167405449T>C	ENSP00000376506:p.Asp143Gly	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K515|D3DNN5|O14811	Missense_Mutation	SNP	pfam_DUF1241	p.D143G	ENST00000392750.2	37	c.428	CCDS3202.1	3	.	.	.	.	.	.	.	.	.	.	T	20.5	3.999968	0.74818	.	.	ENSG00000114209	ENST00000392750;ENST00000473645;ENST00000497056;ENST00000492396;ENST00000461494;ENST00000470131;ENST00000475915;ENST00000487947;ENST00000471885;ENST00000462725	T;T;T;T;T;T;T;T;T;T	0.52526	0.66;0.66;0.66;0.66;0.66;0.66;0.66;0.66;0.66;0.66	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	T	0.53530	0.1802	M	0.75615	2.305	0.80722	D	1	B	0.20988	0.05	B	0.29598	0.104	T	0.52779	-0.8530	10	0.46703	T	0.11	-15.1227	15.9488	0.79817	0.0:0.0:0.0:1.0	.	143	Q9BUL8	PDC10_HUMAN	G	143;143;143;80;143;143;143;143;143;143	ENSP00000376506:D143G;ENSP00000418317:D143G;ENSP00000420553:D143G;ENSP00000417309:D80G;ENSP00000420021:D143G;ENSP00000417202:D143G;ENSP00000417118:D143G;ENSP00000420266:D143G;ENSP00000417876:D143G;ENSP00000420424:D143G	ENSP00000376506:D143G	D	-	2	0	PDCD10	168888143	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	8.040000	0.89188	2.157000	0.67596	0.482000	0.46254	GAT	PDCD10	-	pfam_DUF1241		0.363	PDCD10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDCD10	HGNC	protein_coding	OTTHUMT00000350966.2	T	NM_007217		167405449	-1	no_errors	ENST00000392750	ensembl	human	known	70_37	missense	SNP	1.000	C
PDCD2L	84306	genome.wustl.edu	37	19	34912433	34912433	+	Missense_Mutation	SNP	G	G	C			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr19:34912433G>C	ENST00000246535.3	+	6	854	c.807G>C	c.(805-807)tgG>tgC	p.W269C	RN7SL154P_ENST00000578043.1_RNA|PDCD2L_ENST00000587065.2_5'UTR	NM_032346.1	NP_115722.1	Q9BRP1	PDD2L_HUMAN	programmed cell death 2-like	269					cell cycle (GO:0007049)	cytoplasm (GO:0005737)|membrane (GO:0016020)				breast(2)|kidney(1)|large_intestine(4)|lung(1)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.211)			GGTATTCCTGGAGTGGAGAGC	0.488																																																	0													196.0	210.0	205.0					19																	34912433		2203	4300	6503	SO:0001583	missense	84306			BC006146	CCDS12438.1	19q13.11	2008-02-05				ENSG00000126249			28194	protein-coding gene	gene with protein product		615661				16311922	Standard	NM_032346		Approved	MGC13096	uc002nvj.3	Q9BRP1		ENST00000246535.3:c.807G>C	19.37:g.34912433G>C	ENSP00000246535:p.Trp269Cys	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_PDCD2_C	p.W269C	ENST00000246535.3	37	c.807	CCDS12438.1	19	.	.	.	.	.	.	.	.	.	.	G	21.1	4.093615	0.76756	.	.	ENSG00000126249	ENST00000246535	.	.	.	5.98	5.98	0.97165	Programmed cell death protein 2, C-terminal (1);	0.107046	0.64402	D	0.000001	T	0.77232	0.4100	L	0.60012	1.86	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.73382	-0.4000	9	0.38643	T	0.18	-12.3382	19.208	0.93742	0.0:0.0:1.0:0.0	.	269	Q9BRP1	PDD2L_HUMAN	C	269	.	ENSP00000246535:W269C	W	+	3	0	PDCD2L	39604273	1.000000	0.71417	1.000000	0.80357	0.914000	0.54420	5.440000	0.66563	2.843000	0.97960	0.585000	0.79938	TGG	PDCD2L	-	pfam_PDCD2_C		0.488	PDCD2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDCD2L	HGNC	protein_coding	OTTHUMT00000459251.3	G	NM_032346		34912433	+1	no_errors	ENST00000246535	ensembl	human	known	70_37	missense	SNP	1.000	C
PDE4DIP	9659	genome.wustl.edu	37	1	144904697	144904697	+	Missense_Mutation	SNP	C	C	T			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr1:144904697C>T	ENST00000369354.3	-	20	2804	c.2615G>A	c.(2614-2616)cGg>cAg	p.R872Q	PDE4DIP_ENST00000479408.2_Missense_Mutation_p.R659Q|PDE4DIP_ENST00000369349.3_Missense_Mutation_p.R872Q|PDE4DIP_ENST00000529945.1_Missense_Mutation_p.R1035Q|PDE4DIP_ENST00000369356.4_Missense_Mutation_p.R872Q|PDE4DIP_ENST00000313382.9_Missense_Mutation_p.R938Q|PDE4DIP_ENST00000369359.4_Missense_Mutation_p.R1009Q|PDE4DIP_ENST00000524974.1_Intron|PDE4DIP_ENST00000530740.1_Missense_Mutation_p.R1009Q|PDE4DIP_ENST00000313431.9_Missense_Mutation_p.R1035Q|PDE4DIP_ENST00000369351.3_Missense_Mutation_p.R872Q			Q5VU43	MYOME_HUMAN	phosphodiesterase 4D interacting protein	872					cellular protein complex assembly (GO:0043623)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|myofibril (GO:0030016)|nucleus (GO:0005634)	enzyme binding (GO:0019899)			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(12)|lung(106)|ovary(8)|prostate(7)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	176				Colorectal(2;0.0829)|COAD - Colon adenocarcinoma(2;0.126)		CTCATTGAGCCGACTCCGTTC	0.448			T	PDGFRB	MPD																																			Dom	yes		1	1q12	9659	phosphodiesterase 4D interacting protein (myomegalin)		L	0													153.0	155.0	155.0					1																	144904697		2203	4293	6496	SO:0001583	missense	9659			AB007923, AB007946	CCDS72887.1, CCDS72888.1, CCDS72889.1, CCDS72890.1, CCDS72891.1, CCDS72892.1, CCDS72893.1, CCDS72894.1	1q21.1	2008-07-31	2008-07-31		ENSG00000178104	ENSG00000178104			15580	protein-coding gene	gene with protein product	"""myomegalin"""	608117	"""cardiomyopathy associated 2"""	CMYA2		9455484, 11134006	Standard	NM_022359		Approved	KIAA0477, KIAA0454, MMGL	uc021ouh.1	Q5VU43	OTTHUMG00000013846	ENST00000369354.3:c.2615G>A	1.37:g.144904697C>T	ENSP00000358360:p.Arg872Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	A2RU15|O75042|O75065|Q2YDC1|Q5VU42|Q5VU44|Q5VU45|Q5VU46|Q5VU47|Q5VU48|Q5VU49|Q68DU2|Q6AZ93|Q6PK88|Q86T40|Q86TB2|Q8N3W0|Q8TAY9|Q9HCP2|Q9HCP3|Q9HCP4|Q9HCP5	Missense_Mutation	SNP	pfam_Spindle_assoc,superfamily_ARM-type_fold	p.R872Q	ENST00000369354.3	37	c.2615	CCDS30824.1	1	.	.	.	.	.	.	.	.	.	.	C	18.07	3.541289	0.65085	.	.	ENSG00000178104	ENST00000313382;ENST00000369354;ENST00000369356;ENST00000369353;ENST00000530740;ENST00000369359;ENST00000369351;ENST00000369349;ENST00000313431;ENST00000529945;ENST00000479408	T;T;T;T;T;T;T;T;T;T	0.12147	4.64;4.78;4.79;4.77;4.77;3.81;3.81;2.71;2.74;2.73	5.96	4.09	0.47781	.	.	.	.	.	T	0.14399	0.0348	L	0.32530	0.975	0.80722	D	1	P;P;P;P;D	0.89917	0.839;0.947;0.919;0.897;1.0	B;B;B;B;D	0.83275	0.127;0.197;0.184;0.267;0.996	T	0.03051	-1.1078	9	0.36615	T	0.2	.	11.579	0.50881	0.0:0.8508:0.0:0.1492	.	1035;872;1035;938;872	E9PL24;Q5VU43-7;Q5VU43-2;Q5VU43-3;Q5VU43	.;.;.;.;MYOME_HUMAN	Q	938;872;872;1035;1009;1009;872;872;1035;1035;659	ENSP00000327209:R938Q;ENSP00000358360:R872Q;ENSP00000358363:R872Q;ENSP00000435654:R1009Q;ENSP00000358366:R1009Q;ENSP00000358357:R872Q;ENSP00000358355:R872Q;ENSP00000316434:R1035Q;ENSP00000433392:R1035Q;ENSP00000436791:R659Q	ENSP00000327209:R938Q	R	-	2	0	PDE4DIP	143616054	0.986000	0.35501	1.000000	0.80357	0.994000	0.84299	2.416000	0.44644	1.555000	0.49500	-0.131000	0.14894	CGG	PDE4DIP	-	NULL		0.448	PDE4DIP-003	KNOWN	basic|CCDS	protein_coding	PDE4DIP	HGNC	protein_coding	OTTHUMT00000038858.2	C	NM_022359		144904697	-1	no_errors	ENST00000369356	ensembl	human	known	70_37	missense	SNP	1.000	T
PDLIM5	10611	genome.wustl.edu	37	4	95539295	95539295	+	Missense_Mutation	SNP	C	C	T			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr4:95539295C>T	ENST00000317968.4	+	8	1197	c.1061C>T	c.(1060-1062)tCc>tTc	p.S354F	PDLIM5_ENST00000437932.1_Missense_Mutation_p.S245F|PDLIM5_ENST00000380176.3_3'UTR|PDLIM5_ENST00000542407.1_Missense_Mutation_p.S232F|PDLIM5_ENST00000514743.1_Missense_Mutation_p.S383F	NM_001256428.1|NM_006457.4	NP_001243357.1|NP_006448	Q96HC4	PDLI5_HUMAN	PDZ and LIM domain 5	354					regulation of dendritic spine morphogenesis (GO:0061001)|regulation of synapse assembly (GO:0051963)	actin cytoskeleton (GO:0015629)|cell junction (GO:0030054)|cytosol (GO:0005829)|membrane (GO:0016020)|neuron projection (GO:0043005)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	actin binding (GO:0003779)|actinin binding (GO:0042805)|protein kinase C binding (GO:0005080)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(3)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	22		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;1.84e-09)		CCTGTAGGATCCACTGGCGTC	0.552																																																	0													56.0	48.0	50.0					4																	95539295		2203	4300	6503	SO:0001583	missense	10611			AF061258	CCDS3641.1, CCDS47103.1, CCDS47104.1, CCDS58915.1, CCDS58916.1, CCDS58917.1, CCDS75166.1	4q22	2006-04-12			ENSG00000163110	ENSG00000163110			17468	protein-coding gene	gene with protein product		605904				15346770	Standard	NM_006457		Approved	LIM, Enh	uc003htk.4	Q96HC4	OTTHUMG00000130973	ENST00000317968.4:c.1061C>T	4.37:g.95539295C>T	ENSP00000321746:p.Ser354Phe	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K6F9|D6RB78|E9PBF5|O60705|Q56VN4|Q5UW38|Q8WVK0	Missense_Mutation	SNP	pfam_Znf_LIM,pfam_PDZ,superfamily_PDZ,smart_PDZ,smart_Znf_LIM,pfscan_Znf_LIM,pfscan_PDZ	p.S354F	ENST00000317968.4	37	c.1061	CCDS3641.1	4	.	.	.	.	.	.	.	.	.	.	C	16.55	3.155917	0.57259	.	.	ENSG00000163110	ENST00000437932;ENST00000317968;ENST00000503974;ENST00000542407;ENST00000514743	T;T;T;T;T	0.60920	0.4;0.53;0.38;0.15;0.38	5.49	5.49	0.81192	.	0.739356	0.13485	N	0.384391	T	0.57710	0.2072	L	0.47716	1.5	0.19775	N	0.999953	P;P;P;B	0.45902	0.523;0.868;0.668;0.377	B;B;B;B	0.43728	0.429;0.311;0.326;0.309	T	0.56757	-0.7926	10	0.62326	D	0.03	.	16.0682	0.80903	0.0:1.0:0.0:0.0	.	251;383;354;245	E9PBF5;D6RB78;Q96HC4;Q96HC4-4	.;.;PDLI5_HUMAN;.	F	245;354;251;232;383	ENSP00000398469:S245F;ENSP00000321746:S354F;ENSP00000424297:S251F;ENSP00000442187:S232F;ENSP00000424360:S383F	ENSP00000321746:S354F	S	+	2	0	PDLIM5	95758318	0.025000	0.19082	0.534000	0.28014	0.275000	0.26752	2.292000	0.43549	2.581000	0.87130	0.585000	0.79938	TCC	PDLIM5	-	NULL		0.552	PDLIM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDLIM5	HGNC	protein_coding	OTTHUMT00000253586.1	C			95539295	+1	no_errors	ENST00000317968	ensembl	human	known	70_37	missense	SNP	0.279	T
PDLIM3	27295	genome.wustl.edu	37	4	186423481	186423481	+	Silent	SNP	G	G	A			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr4:186423481G>A	ENST00000284770.5	-	8	1135	c.1062C>T	c.(1060-1062)ggC>ggT	p.G354G	PDLIM3_ENST00000284767.5_3'UTR|PDLIM3_ENST00000284771.6_Silent_p.G306G	NM_014476.5	NP_055291.2	Q53GG5	PDLI3_HUMAN	PDZ and LIM domain 3	354					actin filament organization (GO:0007015)|heart development (GO:0007507)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)	structural constituent of muscle (GO:0008307)|zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|large_intestine(1)|lung(5)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	17		all_lung(41;1.03e-13)|Lung NSC(41;2.49e-13)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00826)|Renal(120;0.00988)|Prostate(90;0.00996)|Colorectal(36;0.0161)|all_hematologic(60;0.0592)|all_neural(102;0.243)		OV - Ovarian serous cystadenocarcinoma(60;1.4e-10)|BRCA - Breast invasive adenocarcinoma(30;8.64e-05)|GBM - Glioblastoma multiforme(59;0.000167)|STAD - Stomach adenocarcinoma(60;0.000828)|LUSC - Lung squamous cell carcinoma(40;0.00984)|COAD - Colon adenocarcinoma(29;0.0115)|READ - Rectum adenocarcinoma(43;0.171)		CCGTGTCATAGCCCTCTGGGG	0.567																																																	0													100.0	95.0	97.0					4																	186423481		2203	4300	6503	SO:0001819	synonymous_variant	27295			AF002280	CCDS3844.1, CCDS47172.1, CCDS75218.1, CCDS75219.1	4q35	2014-09-17			ENSG00000154553	ENSG00000154553			20767	protein-coding gene	gene with protein product		605889				10063829, 8828038	Standard	NM_014476		Approved	ALP	uc003ixw.4	Q53GG5	OTTHUMG00000160412	ENST00000284770.5:c.1062C>T	4.37:g.186423481G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	B2R866|O43590|O60439|O60440|Q8N6Y6|Q9BVP4	Silent	SNP	pfam_PDZ,pfam_Znf_LIM,superfamily_PDZ,smart_PDZ,smart_ZASP,smart_Znf_LIM,pfscan_Znf_LIM,pfscan_PDZ	p.G354	ENST00000284770.5	37	c.1062	CCDS3844.1	4																																																																																			PDLIM3	-	NULL		0.567	PDLIM3-001	KNOWN	basic|CCDS	protein_coding	PDLIM3	HGNC	protein_coding	OTTHUMT00000360499.2	G	NM_014476		186423481	-1	no_errors	ENST00000284770	ensembl	human	known	70_37	silent	SNP	0.998	A
PDPK1	5170	genome.wustl.edu	37	16	2651470	2651470	+	3'UTR	SNP	G	G	A			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr16:2651470G>A	ENST00000342085.4	+	0	5522				AC141586.5_ENST00000399702.1_RNA|CTD-3126B10.1_ENST00000562166.1_RNA	NM_002613.4	NP_002604.1	O15530	PDPK1_HUMAN	3-phosphoinositide dependent protein kinase 1						actin cytoskeleton organization (GO:0030036)|activation of protein kinase B activity (GO:0032148)|blood coagulation (GO:0007596)|calcium-mediated signaling (GO:0019722)|cell migration (GO:0016477)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to insulin stimulus (GO:0032869)|epidermal growth factor receptor signaling pathway (GO:0007173)|extrinsic apoptotic signaling pathway (GO:0097191)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|focal adhesion assembly (GO:0048041)|hyperosmotic response (GO:0006972)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|intracellular signal transduction (GO:0035556)|negative regulation of cardiac muscle cell apoptotic process (GO:0010667)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of toll-like receptor signaling pathway (GO:0034122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-threonine phosphorylation (GO:0018107)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of phospholipase activity (GO:0010518)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of endothelial cell migration (GO:0010594)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of mast cell degranulation (GO:0043304)|regulation of transcription, DNA-templated (GO:0006355)|synaptic transmission (GO:0007268)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|transcription, DNA-templated (GO:0006351)|type B pancreatic cell development (GO:0003323)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)	3-phosphoinositide-dependent protein kinase activity (GO:0004676)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phospholipase activator activity (GO:0016004)|phospholipase binding (GO:0043274)|protein serine/threonine kinase activity (GO:0004674)			central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(2)|ovary(1)	7		Ovarian(90;0.17)			Celecoxib(DB00482)	GCGCTTGGCAGAATCTTGTAC	0.493																																																	0													97.0	70.0	78.0					16																	2651470		692	1591	2283	SO:0001624	3_prime_UTR_variant	5170			AF017995	CCDS10472.1, CCDS10473.1, CCDS58411.1	16p13.3	2014-03-20	2014-03-20		ENSG00000140992	ENSG00000140992			8816	protein-coding gene	gene with protein product	"""PkB kinase"""	605213				9094314, 9445477	Standard	NM_002613		Approved	PDK1	uc002cqs.4	O15530	OTTHUMG00000128874	ENST00000342085.4:c.*3702G>A	16.37:g.2651470G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	H0Y4Z0|Q59EH6|Q6FI20|Q8IV52|Q9BRD5	RNA	SNP	-	NULL	ENST00000342085.4	37	NULL	CCDS10472.1	16																																																																																			PDPK1	-	-		0.493	PDPK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDPK1	HGNC	protein_coding	OTTHUMT00000250831.3	G			2651470	+1	no_errors	ENST00000561962	ensembl	human	putative	70_37	rna	SNP	0.482	A
PDSS2	57107	genome.wustl.edu	37	6	107780477	107780477	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr6:107780477G>A	ENST00000369037.4	-	1	290	c.13C>T	c.(13-15)Cag>Tag	p.Q5*	PDSS2_ENST00000369031.4_Nonsense_Mutation_p.Q5*|PDSS2_ENST00000453874.2_Nonsense_Mutation_p.Q5*	NM_020381.3	NP_065114.3	Q86YH6	DLP1_HUMAN	prenyl (decaprenyl) diphosphate synthase, subunit 2	5					isoprenoid biosynthetic process (GO:0008299)|protein heterotetramerization (GO:0051290)|regulation of body fluid levels (GO:0050878)|small molecule metabolic process (GO:0044281)|ubiquinone biosynthetic process (GO:0006744)	cytoplasm (GO:0005737)|mitochondrial matrix (GO:0005759)	protein heterodimerization activity (GO:0046982)|trans-hexaprenyltranstransferase activity (GO:0000010)|trans-octaprenyltranstransferase activity (GO:0050347)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|ovary(3)	19	Breast(9;0.0127)	all_cancers(87;3.63e-05)|Acute lymphoblastic leukemia(125;2.86e-08)|all_hematologic(75;1.14e-06)|all_epithelial(87;0.0108)|Colorectal(196;0.156)|Lung NSC(302;0.211)	BRCA - Breast invasive adenocarcinoma(8;0.0101)|all cancers(7;0.243)	BRCA - Breast invasive adenocarcinoma(108;0.112)|OV - Ovarian serous cystadenocarcinoma(136;0.173)|all cancers(137;0.191)		AACAGCAGCTGCCGAAAGTTC	0.597											OREG0017595	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													35.0	40.0	38.0					6																	107780477		2203	4300	6503	SO:0001587	stop_gained	57107			AF254956	CCDS5059.1	6q21	2006-02-14	2006-02-14	2006-02-14	ENSG00000164494	ENSG00000164494			23041	protein-coding gene	gene with protein product		610564	"""chromosome 6 open reading frame 210"""	C6orf210		16262699	Standard	NM_020381		Approved	bA59I9.3	uc003prt.2	Q86YH6	OTTHUMG00000059359	ENST00000369037.4:c.13C>T	6.37:g.107780477G>A	ENSP00000358033:p.Gln5*	Somatic	1407	WXS	Illumina HiSeq	Phase_IV	Q33DR4|Q4G158|Q5VU38|Q5VU39|Q9NR58	Nonsense_Mutation	SNP	pfam_Polyprenyl_synt,superfamily_Terpenoid_synth	p.Q5*	ENST00000369037.4	37	c.13	CCDS5059.1	6	.	.	.	.	.	.	.	.	.	.	G	39	7.591817	0.98378	.	.	ENSG00000164494	ENST00000369037;ENST00000453874;ENST00000369031	.	.	.	4.95	3.02	0.34903	.	0.818761	0.11257	N	0.582993	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.24483	T	0.36	.	7.7577	0.28933	0.0:0.1798:0.6338:0.1864	.	.	.	.	X	5	.	ENSP00000358027:Q5X	Q	-	1	0	PDSS2	107887170	0.996000	0.38824	0.998000	0.56505	0.693000	0.40251	1.264000	0.33015	1.429000	0.47314	0.655000	0.94253	CAG	PDSS2	-	NULL		0.597	PDSS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDSS2	HGNC	protein_coding	OTTHUMT00000131954.1	G	NM_020381		107780477	-1	no_errors	ENST00000369037	ensembl	human	known	70_37	nonsense	SNP	0.999	A
PGAP1	80055	genome.wustl.edu	37	2	197737724	197737724	+	Missense_Mutation	SNP	G	G	A			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr2:197737724G>A	ENST00000354764.4	-	17	1693	c.1579C>T	c.(1579-1581)Cat>Tat	p.H527Y	PGAP1_ENST00000409475.1_Missense_Mutation_p.H527Y	NM_024989.3	NP_079265.2	Q75T13	PGAP1_HUMAN	post-GPI attachment to proteins 1	527					anterior/posterior axis specification (GO:0009948)|attachment of GPI anchor to protein (GO:0016255)|C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|embryonic pattern specification (GO:0009880)|forebrain regionalization (GO:0021871)|head development (GO:0060322)|intracellular protein transport (GO:0006886)|myo-inositol transport (GO:0015798)|post-translational protein modification (GO:0043687)|sensory perception of sound (GO:0007605)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	nuclease activity (GO:0004518)|phosphoric ester hydrolase activity (GO:0042578)			breast(4)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(9)|lung(11)|ovary(6)|stomach(1)|urinary_tract(1)	40						CAAGGAATATGAAGTCTATAG	0.254																																																	0													43.0	48.0	46.0					2																	197737724		2158	4212	6370	SO:0001583	missense	80055				CCDS2318.1	2q33.1	2014-03-03			ENSG00000197121	ENSG00000197121			25712	protein-coding gene	gene with protein product	"""GPI inositol-deacylase"""	611655				14734546, 17711852, 24482476	Standard	XM_005246866		Approved	FLJ12377, Bst1, SPG67	uc002utw.3	Q75T13	OTTHUMG00000132743	ENST00000354764.4:c.1579C>T	2.37:g.197737724G>A	ENSP00000346809:p.His527Tyr	Somatic		WXS	Illumina HiSeq	Phase_IV	Q4G0R8|Q4ZG47|Q53SM0|Q6AW92|Q6UWV4|Q9HA24	Missense_Mutation	SNP	pfam_PGAP1-like	p.H527Y	ENST00000354764.4	37	c.1579	CCDS2318.1	2	.	.	.	.	.	.	.	.	.	.	G	15.80	2.941319	0.53079	.	.	ENSG00000197121	ENST00000422382;ENST00000354764;ENST00000409475	.	.	.	4.75	3.85	0.44370	.	0.452625	0.25027	N	0.033708	T	0.44603	0.1301	L	0.29908	0.895	0.80722	D	1	D;P	0.54964	0.969;0.818	P;B	0.51016	0.656;0.255	T	0.39461	-0.9613	9	0.02654	T	1	-17.5666	13.2578	0.60089	0.0:0.1595:0.8405:0.0	.	527;527	Q75T13-3;Q75T13	.;PGAP1_HUMAN	Y	307;527;527	.	ENSP00000346809:H527Y	H	-	1	0	PGAP1	197445969	1.000000	0.71417	1.000000	0.80357	0.639000	0.38242	5.881000	0.69706	1.329000	0.45376	0.585000	0.79938	CAT	PGAP1	-	NULL		0.254	PGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PGAP1	HGNC	protein_coding	OTTHUMT00000256103.5	G	NM_024989		197737724	-1	no_errors	ENST00000354764	ensembl	human	known	70_37	missense	SNP	1.000	A
PGCP1	441897	genome.wustl.edu	37	1	111927180	111927180	+	RNA	SNP	C	C	T			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr1:111927180C>T	ENST00000411951.1	-	0	568					NR_029429.1				progastricsin (pepsinogen C) pseudogene 1																		TGGCAACCCTCAGAGCACAAG	0.562																																																	0																																												441897					1p13.2	2011-01-31			ENSG00000227179	ENSG00000227179			39503	pseudogene	pseudogene							Standard	NR_029429		Approved		uc021orp.1		OTTHUMG00000011171		1.37:g.111927180C>T		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000411951.1	37	NULL		1																																																																																			PGCP1	-	-		0.562	PGCP1-002	KNOWN	basic	processed_transcript	PGCP1	HGNC	pseudogene	OTTHUMT00000331136.1	C	NR_029429		111927180	-1	no_errors	ENST00000411951	ensembl	human	known	70_37	rna	SNP	0.937	T
PGBD5	79605	genome.wustl.edu	37	1	230493034	230493034	+	Missense_Mutation	SNP	G	G	A			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr1:230493034G>A	ENST00000525115.1	-	2	181	c.158C>T	c.(157-159)gCc>gTc	p.A53V	PGBD5_ENST00000321327.2_Missense_Mutation_p.A152V|PGBD5_ENST00000391860.1_Missense_Mutation_p.A7V			Q8N414	PGBD5_HUMAN	piggyBac transposable element derived 5	53						integral component of membrane (GO:0016021)				biliary_tract(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(8)|lung(6)|ovary(2)|prostate(2)|skin(1)	33	Breast(184;0.0397)	Prostate(94;0.167)		GBM - Glioblastoma multiforme(131;0.201)		GAAGTCCACGGCACTGGCGCT	0.572																																																	0													51.0	48.0	49.0					1																	230493034		2203	4300	6503	SO:0001583	missense	79605			AK021475		1q42.13	2008-02-05			ENSG00000177614	ENSG00000177614			19405	protein-coding gene	gene with protein product							Standard	NM_001258311		Approved	DKFZp761A0620, FLJ11413	uc031psq.1	Q8N414	OTTHUMG00000037759	ENST00000525115.1:c.158C>T	1.37:g.230493034G>A	ENSP00000431404:p.Ala53Val	Somatic		WXS	Illumina HiSeq	Phase_IV	A0PJF3|B9EK58|Q5SR37|Q6PJN2	Missense_Mutation	SNP	NULL	p.A152V	ENST00000525115.1	37	c.455		1	.	.	.	.	.	.	.	.	.	.	G	16.47	3.133400	0.56828	.	.	ENSG00000177614	ENST00000391860;ENST00000321327;ENST00000525115	T;T;T	0.19938	2.11;2.11;2.11	5.79	5.79	0.91817	.	0.048970	0.85682	D	0.000000	T	0.12008	0.0292	N	0.12182	0.205	0.58432	D	0.999995	B	0.18166	0.026	B	0.19946	0.027	T	0.19192	-1.0313	10	0.12103	T	0.63	-41.437	13.2502	0.60048	0.072:0.0:0.9279:0.0	.	53	Q8N414	PGBD5_HUMAN	V	7;152;53	ENSP00000375733:A7V;ENSP00000322530:A152V;ENSP00000431404:A53V	ENSP00000322530:A152V	A	-	2	0	PGBD5	228559657	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.808000	0.75206	2.746000	0.94184	0.655000	0.94253	GCC	PGBD5	-	NULL		0.572	PGBD5-002	PUTATIVE	basic|exp_conf	protein_coding	PGBD5	HGNC	protein_coding	OTTHUMT00000382617.1	G	NM_024554		230493034	-1	no_errors	ENST00000321327	ensembl	human	known	70_37	missense	SNP	1.000	A
PGM5	5239	genome.wustl.edu	37	9	71098931	71098931	+	Silent	SNP	G	G	T			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr9:71098931G>T	ENST00000396396.1	+	9	1675	c.1446G>T	c.(1444-1446)gtG>gtT	p.V482V		NM_021965.3	NP_068800.2	Q15124	PGM5_HUMAN	phosphoglucomutase 5	482					carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)	cell-cell adherens junction (GO:0005913)|costamere (GO:0043034)|cytoplasmic side of plasma membrane (GO:0009898)|dystrophin-associated glycoprotein complex (GO:0016010)|focal adhesion (GO:0005925)|intercalated disc (GO:0014704)|sarcolemma (GO:0042383)|spot adherens junction (GO:0005914)|stress fiber (GO:0001725)|Z disc (GO:0030018)	intramolecular transferase activity, phosphotransferases (GO:0016868)|magnesium ion binding (GO:0000287)|structural molecule activity (GO:0005198)			endometrium(5)|kidney(1)|large_intestine(5)|liver(2)|lung(15)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	34						TTGAATACGTGGACCCTGTGG	0.512																																																	0													163.0	138.0	147.0					9																	71098931		2203	4300	6503	SO:0001819	synonymous_variant	5239			L40933	CCDS6622.2	9q13	2008-02-05			ENSG00000154330	ENSG00000154330			8908	protein-coding gene	gene with protein product	"""phosphoglucomutase-related protein"""	600981				8586438, 8631316	Standard	NM_021965		Approved	PGMRP	uc004agr.3	Q15124	OTTHUMG00000019966	ENST00000396396.1:c.1446G>T	9.37:g.71098931G>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B1AM46|B4DLQ6|Q5VYV3|Q8N527|Q9UDH4	Silent	SNP	pfam_A-D-PHexomutase_a/b/a-I,pfam_A-D-PHexomutase_a/b/a-III,pfam_A-D-PHexomutase_a/b/a-II,superfamily_A-D-PHexomutase_a/b/a-I/II/III,prints_Alpha-D-phosphohexomutase_SF	p.V482	ENST00000396396.1	37	c.1446	CCDS6622.2	9																																																																																			PGM5	-	NULL		0.512	PGM5-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	PGM5	HGNC	protein_coding	OTTHUMT00000052548.2	G	NM_021965		71098931	+1	no_errors	ENST00000396396	ensembl	human	known	70_37	silent	SNP	1.000	T
PHKB	5257	genome.wustl.edu	37	16	47699866	47699866	+	Intron	SNP	C	C	T			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr16:47699866C>T	ENST00000323584.5	+	25	2451				PHKB_ENST00000299167.8_Missense_Mutation_p.R784C|PHKB_ENST00000566044.1_Missense_Mutation_p.R777C|PHKB_ENST00000455779.1_Intron	NM_000293.2	NP_000284.1	Q93100	KPBB_HUMAN	phosphorylase kinase, beta						carbohydrate metabolic process (GO:0005975)|generation of precursor metabolites and energy (GO:0006091)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|glycogen metabolic process (GO:0005977)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|phosphorylase kinase complex (GO:0005964)|plasma membrane (GO:0005886)	hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)|phosphorylase kinase activity (GO:0004689)			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|liver(1)|lung(18)|ovary(1)|skin(1)	41		all_cancers(37;0.00447)|all_lung(18;0.00616)|Lung NSC(13;0.0418)|Breast(268;0.203)				GGTTGTACGCCGTGCAGCAAG	0.458																																																	0													88.0	87.0	88.0					16																	47699866		1898	4121	6019	SO:0001627	intron_variant	5257				CCDS10729.1, CCDS42161.1	16q12-q13	2009-07-10			ENSG00000102893	ENSG00000102893	2.7.11.19		8927	protein-coding gene	gene with protein product		172490					Standard	NM_000293		Approved		uc002eev.4	Q93100	OTTHUMG00000133102	ENST00000323584.5:c.2427+980C>T	16.37:g.47699866C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q8N4T5	Missense_Mutation	SNP	pfam_Glyco_hydro_15,superfamily_6-hairpin_glycosidase-like	p.R784C	ENST00000323584.5	37	c.2350	CCDS10729.1	16	.	.	.	.	.	.	.	.	.	.	C	13.85	2.358929	0.41801	.	.	ENSG00000102893	ENST00000299167	.	.	.	5.21	2.87	0.33458	.	.	.	.	.	T	0.53367	0.1792	L	0.57536	1.79	0.80722	D	1	B;B	0.06786	0.001;0.0	B;B	0.06405	0.002;0.001	T	0.54417	-0.8297	8	0.48119	T	0.1	.	6.4629	0.21966	0.0:0.6709:0.0:0.3291	.	25;777	B3KVX5;Q93100-4	.;.	C	777	.	ENSP00000299167:R777C	R	+	1	0	PHKB	46257367	1.000000	0.71417	0.999000	0.59377	0.994000	0.84299	2.014000	0.40951	1.321000	0.45227	-0.142000	0.14014	CGT	PHKB	-	pfam_Glyco_hydro_15		0.458	PHKB-002	KNOWN	basic|CCDS	protein_coding	PHKB	HGNC	protein_coding	OTTHUMT00000430413.1	C			47699866	+1	no_errors	ENST00000299167	ensembl	human	known	70_37	missense	SNP	1.000	T
PHRF1	57661	genome.wustl.edu	37	11	608302	608302	+	Missense_Mutation	SNP	G	G	A			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr11:608302G>A	ENST00000264555.5	+	14	2974	c.2846G>A	c.(2845-2847)tGc>tAc	p.C949Y	PHRF1_ENST00000413872.2_Missense_Mutation_p.C947Y|PHRF1_ENST00000533464.1_Missense_Mutation_p.C945Y|PHRF1_ENST00000416188.2_Missense_Mutation_p.C948Y	NM_020901.2	NP_065952.2	Q9P1Y6	PHRF1_HUMAN	PHD and ring finger domains 1	949					mRNA processing (GO:0006397)|transcription from RNA polymerase II promoter (GO:0006366)	membrane (GO:0016020)	RNA polymerase binding (GO:0070063)|zinc ion binding (GO:0008270)			breast(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|urinary_tract(2)	28						GGGGCGTCTTGCAGCACCTTC	0.692																																																	0													17.0	23.0	21.0					11																	608302		2005	4152	6157	SO:0001583	missense	57661			BC004950	CCDS44507.1, CCDS65987.1, CCDS65988.1, CCDS65989.1	11p15.5	2014-06-13			ENSG00000070047	ENSG00000070047		"""RING-type (C3HC4) zinc fingers"", ""Zinc fingers, PHD-type"""	24351	protein-coding gene	gene with protein product	"""CTD binding SR like protein rA9"", ""protein phosphatase 1, regulatory subunit 125"""	611780		RNF221			Standard	XM_005253027		Approved	KIAA1542, PPP1R125	uc010qwc.2	Q9P1Y6	OTTHUMG00000165141	ENST00000264555.5:c.2846G>A	11.37:g.608302G>A	ENSP00000264555:p.Cys949Tyr	Somatic		WXS	Illumina HiSeq	Phase_IV	A6H8W1|B7ZM64|B9EGP0|C9JS82|Q6PJP2|Q8IVY2|Q8N2Y7|Q9BSM2	Missense_Mutation	SNP	pfam_Znf_PHD-finger,pfam_Znf_C3HC4_RING-type,superfamily_Znf_FYVE_PHD,smart_Znf_RING,smart_Znf_PHD,pfscan_Znf_PHD-finger,pfscan_Znf_RING	p.C949Y	ENST00000264555.5	37	c.2846		11	.	.	.	.	.	.	.	.	.	.	G	2.013	-0.426498	0.04701	.	.	ENSG00000070047	ENST00000264555;ENST00000413872;ENST00000416188;ENST00000533464	T;T;T;T	0.78364	-1.17;-1.17;-1.17;-1.17	4.35	-4.0	0.04057	.	1.086070	0.07265	N	0.868173	T	0.59252	0.2180	N	0.24115	0.695	0.09310	N	1	B;B;B;B	0.29508	0.159;0.246;0.246;0.159	B;B;B;B	0.24701	0.025;0.055;0.055;0.025	T	0.42865	-0.9426	10	0.38643	T	0.18	-0.0384	6.6522	0.22969	0.3557:0.3328:0.3116:0.0	.	945;947;948;949	E9PJ24;F8WEF5;Q9P1Y6-3;Q9P1Y6	.;.;.;PHRF1_HUMAN	Y	949;947;948;945	ENSP00000264555:C949Y;ENSP00000388589:C947Y;ENSP00000410626:C948Y;ENSP00000431870:C945Y	ENSP00000264555:C949Y	C	+	2	0	PHRF1	598302	0.000000	0.05858	0.000000	0.03702	0.049000	0.14656	-0.026000	0.12392	-1.215000	0.02610	-0.266000	0.10368	TGC	PHRF1	-	NULL		0.692	PHRF1-001	KNOWN	basic|appris_candidate_longest	protein_coding	PHRF1	HGNC	protein_coding	OTTHUMT00000382133.1	G	NM_020901		608302	+1	no_errors	ENST00000264555	ensembl	human	known	70_37	missense	SNP	0.000	A
PIGQ	9091	genome.wustl.edu	37	16	624416	624416	+	Silent	SNP	G	G	A			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr16:624416G>A	ENST00000026218.5	+	2	430	c.342G>A	c.(340-342)gcG>gcA	p.A114A	PIGQ_ENST00000321878.5_Silent_p.A114A|PIGQ_ENST00000409527.2_Silent_p.A114A|PIGQ_ENST00000470411.2_Silent_p.A114A	NM_148920.2	NP_683721.1	Q9BRB3	PIGQ_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class Q	114					C-terminal protein lipidation (GO:0006501)|carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|preassembly of GPI anchor in ER membrane (GO:0016254)	endoplasmic reticulum membrane (GO:0005789)|glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex (GO:0000506)|integral component of membrane (GO:0016021)	phosphatidylinositol N-acetylglucosaminyltransferase activity (GO:0017176)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	13		Hepatocellular(780;0.00335)				ACCGGCAAGCGCCCACTGCCC	0.672																																																	0													20.0	18.0	19.0					16																	624416		2194	4295	6489	SO:0001819	synonymous_variant	9091			AB003723	CCDS10411.1, CCDS10412.1	16p13.3	2013-03-28	2006-06-28		ENSG00000007541	ENSG00000007541		"""Phosphatidylinositol glycan anchor biosynthesis"""	14135	protein-coding gene	gene with protein product		605754	"""phosphatidylinositol glycan, class Q"""			9463366, 9729469	Standard	NM_004204		Approved	hGPI1, GPI1	uc002cho.3	Q9BRB3	OTTHUMG00000168047	ENST00000026218.5:c.342G>A	16.37:g.624416G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	A2IDE1|D3DU52|O14927|Q96G00|Q96S22|Q9UJH4	Silent	SNP	pfam_GlcNAc_Gpi1	p.A114	ENST00000026218.5	37	c.342	CCDS10411.1	16																																																																																			PIGQ	-	NULL		0.672	PIGQ-002	KNOWN	basic|CCDS	protein_coding	PIGQ	HGNC	protein_coding	OTTHUMT00000239270.2	G	NM_004204		624416	+1	no_errors	ENST00000026218	ensembl	human	known	70_37	silent	SNP	0.001	A
PIEZO1	9780	genome.wustl.edu	37	16	88801158	88801158	+	Missense_Mutation	SNP	C	C	T			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr16:88801158C>T	ENST00000301015.9	-	15	2143	c.1897G>A	c.(1897-1899)Gtg>Atg	p.V633M	RP5-1142A6.2_ENST00000567968.1_RNA|RP5-1142A6.2_ENST00000440406.2_RNA	NM_001142864.2	NP_001136336.2	Q92508	PIEZ1_HUMAN	piezo-type mechanosensitive ion channel component 1	633					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|detection of mechanical stimulus (GO:0050982)|positive regulation of cell-cell adhesion mediated by integrin (GO:0033634)|positive regulation of integrin activation (GO:0033625)|regulation of membrane potential (GO:0042391)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cation channel activity (GO:0005261)|mechanically-gated ion channel activity (GO:0008381)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|prostate(2)|skin(1)	10						TAGGCCACCACGAGCCACCAG	0.647																																																	0													59.0	68.0	66.0					16																	88801158		691	1589	2280	SO:0001583	missense	9780			D87071	CCDS54058.1	16q24.3	2011-08-31	2011-08-31	2011-08-31	ENSG00000103335	ENSG00000103335			28993	protein-coding gene	gene with protein product		611184	"""family with sequence similarity 38, member A"""	FAM38A		20813920, 21056836, 21299953, 21696149	Standard	NM_001142864		Approved	KIAA0233	uc010vpb.2	Q92508	OTTHUMG00000156776	ENST00000301015.9:c.1897G>A	16.37:g.88801158C>T	ENSP00000301015:p.Val633Met	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NHT9|A7E2B7|Q0KKZ9	Missense_Mutation	SNP	pfam_DUF3595	p.V633M	ENST00000301015.9	37	c.1897	CCDS54058.1	16	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	26.2|26.2	4.710297|4.710297	0.89018|0.89018	.|.	.|.	ENSG00000103335|ENSG00000103335	ENST00000451779|ENST00000301015	.|T	.|0.14893	.|2.47	4.58|4.58	4.58|4.58	0.56647|0.56647	.|.	.|0.000000	.|0.64402	.|D	.|0.000005	T|T	0.42653|0.42653	0.1212|0.1212	M|M	0.71036|0.71036	2.16|2.16	0.80722|0.80722	D|D	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.87578	.|0.998	T|T	0.36335|0.36335	-0.9752|-0.9752	5|10	.|0.51188	.|T	.|0.08	.|.	17.7206|17.7206	0.88350|0.88350	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|633	.|Q92508	.|PIEZ1_HUMAN	H|M	578|633	.|ENSP00000301015:V633M	.|ENSP00000301015:V633M	R|V	-|-	2|1	0|0	FAM38A|FAM38A	87328659|87328659	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.980000|0.980000	0.70556|0.70556	5.715000|5.715000	0.68430|0.68430	2.276000|2.276000	0.75962|0.75962	0.491000|0.491000	0.48974|0.48974	CGT|GTG	PIEZO1	-	NULL		0.647	PIEZO1-001	NOVEL	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	PIEZO1	HGNC	protein_coding	OTTHUMT00000345699.4	C	NM_014745		88801158	-1	no_errors	ENST00000301015	ensembl	human	novel	70_37	missense	SNP	1.000	T
PIK3AP1	118788	genome.wustl.edu	37	10	98469594	98469594	+	Missense_Mutation	SNP	A	A	C			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr10:98469594A>C	ENST00000339364.5	-	2	279	c.160T>G	c.(160-162)Tcg>Gcg	p.S54A		NM_152309.2	NP_689522.2	Q6ZUJ8	BCAP_HUMAN	phosphoinositide-3-kinase adaptor protein 1	54	Necessary and sufficent to mediate inhibition of NF-kappa-B downstream of activated TLRs; may mediate interaction with MYD88 and TIRAP. {ECO:0000250}.				negative regulation of toll-like receptor signaling pathway (GO:0034122)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of toll-like receptor signaling pathway (GO:0034123)|regulation of inflammatory response (GO:0050727)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 7 signaling pathway (GO:0034154)|toll-like receptor 9 signaling pathway (GO:0034162)	cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	phosphatidylinositol 3-kinase regulatory subunit binding (GO:0036312)			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(27)|ovary(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(4)	52		Colorectal(252;0.0442)		Epithelial(162;6.29e-08)|all cancers(201;3.18e-06)		TCCTCTGCCGAGAAGGAGGCC	0.637																																																	0													49.0	48.0	48.0					10																	98469594		2203	4300	6503	SO:0001583	missense	118788			AK092883	CCDS31259.1	10q24.2	2008-10-23			ENSG00000155629	ENSG00000155629			30034	protein-coding gene	gene with protein product		607942				1251844, 11163197	Standard	NM_152309		Approved	BCAP, FLJ35564	uc001kmq.3	Q6ZUJ8	OTTHUMG00000018838	ENST00000339364.5:c.160T>G	10.37:g.98469594A>C	ENSP00000339826:p.Ser54Ala	Somatic		WXS	Illumina HiSeq	Phase_IV	Q5TB56|Q5VXJ9|Q8N6J6|Q8NAC8	Missense_Mutation	SNP	superfamily_Ankyrin_rpt-contain_dom	p.S54A	ENST00000339364.5	37	c.160	CCDS31259.1	10	.	.	.	.	.	.	.	.	.	.	A	2.755	-0.259251	0.05791	.	.	ENSG00000155629	ENST00000339364	T	0.09255	3.0	5.15	2.71	0.32032	.	0.422095	0.24022	N	0.042264	T	0.08313	0.0207	L	0.52573	1.65	0.80722	D	1	B	0.09022	0.002	B	0.09377	0.004	T	0.23726	-1.0180	10	0.30854	T	0.27	-9.4751	2.7067	0.05164	0.6167:0.1514:0.0858:0.1461	.	54	Q6ZUJ8	BCAP_HUMAN	A	54	ENSP00000339826:S54A	ENSP00000339826:S54A	S	-	1	0	PIK3AP1	98459584	0.978000	0.34361	0.952000	0.39060	0.031000	0.12232	0.532000	0.23067	2.069000	0.61940	0.533000	0.62120	TCG	PIK3AP1	-	NULL		0.637	PIK3AP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIK3AP1	HGNC	protein_coding	OTTHUMT00000049619.2	A	NM_152309		98469594	-1	no_errors	ENST00000339364	ensembl	human	known	70_37	missense	SNP	0.954	C
PIK3C3	5289	genome.wustl.edu	37	18	39644745	39644745	+	Missense_Mutation	SNP	A	A	T			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr18:39644745A>T	ENST00000262039.4	+	23	2560	c.2474A>T	c.(2473-2475)gAt>gTt	p.D825V	PIK3C3_ENST00000588156.1_Missense_Mutation_p.D49V|PIK3C3_ENST00000587328.1_Missense_Mutation_p.D3V|PIK3C3_ENST00000593098.1_Missense_Mutation_p.D310V|PIK3C3_ENST00000398870.3_Missense_Mutation_p.D762V	NM_002647.2	NP_002638.2	Q8NEB9	PK3C3_HUMAN	phosphatidylinositol 3-kinase, catalytic subunit type 3	825	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.				autophagic vacuole assembly (GO:0000045)|cytokinesis (GO:0000910)|early endosome to late endosome transport (GO:0045022)|endosome organization (GO:0007032)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|protein processing (GO:0016485)|regulation of protein secretion (GO:0050708)|response to leucine (GO:0043201)|small molecule metabolic process (GO:0044281)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)	axoneme (GO:0005930)|cytosol (GO:0005829)|late endosome (GO:0005770)|membrane (GO:0016020)|midbody (GO:0030496)|phagocytic vesicle (GO:0045335)|phosphatidylinositol 3-kinase complex (GO:0005942)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|ATP binding (GO:0005524)|protein kinase activity (GO:0004672)			breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(10)|liver(1)|lung(25)|ovary(1)|skin(2)|urinary_tract(1)	49						TTGATGGTTGATGCAAACATT	0.299										TSP Lung(28;0.18)																											NSCLC(37;552 1060 2683 16430 37914)												0													85.0	84.0	85.0					18																	39644745		2202	4300	6502	SO:0001583	missense	5289			Z46973	CCDS11920.1	18q12.3	2012-07-13	2012-07-13		ENSG00000078142	ENSG00000078142	2.7.1.137		8974	protein-coding gene	gene with protein product		602609	"""phosphoinositide-3-kinase, class 3"""			7628435	Standard	NM_002647		Approved	Vps34	uc002lap.3	Q8NEB9	OTTHUMG00000132593	ENST00000262039.4:c.2474A>T	18.37:g.39644745A>T	ENSP00000262039:p.Asp825Val	Somatic		WXS	Illumina HiSeq	Phase_IV	Q15134	Missense_Mutation	SNP	pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_C2_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pirsf_PI3K_Vps34,pfscan_PI3/4_kinase_cat_dom	p.D825V	ENST00000262039.4	37	c.2474	CCDS11920.1	18	.	.	.	.	.	.	.	.	.	.	A	24.4	4.525462	0.85600	.	.	ENSG00000078142	ENST00000262039;ENST00000398870	T;T	0.80909	-1.43;-1.43	6.16	6.16	0.99307	Protein kinase-like domain (1);Phosphatidylinositol 3-/4-kinase, catalytic (4);	0.000000	0.85682	D	0.000000	D	0.92551	0.7634	H	0.94264	3.515	0.80722	D	1	D;D	0.67145	0.996;0.989	D;D	0.72982	0.979;0.953	D	0.94311	0.7545	9	.	.	.	.	16.4795	0.84153	1.0:0.0:0.0:0.0	.	762;825	A8MYT4;Q8NEB9	.;PK3C3_HUMAN	V	825;762	ENSP00000262039:D825V;ENSP00000381845:D762V	.	D	+	2	0	PIK3C3	37898743	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.737000	0.91562	2.367000	0.80283	0.528000	0.53228	GAT	PIK3C3	-	pfam_PI3/4_kinase_cat_dom,superfamily_Kinase-like_dom,smart_PI3/4_kinase_cat_dom,pirsf_PI3K_Vps34,pfscan_PI3/4_kinase_cat_dom		0.299	PIK3C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PIK3C3	HGNC	protein_coding	OTTHUMT00000255804.1	A	NM_002647		39644745	+1	no_errors	ENST00000262039	ensembl	human	known	70_37	missense	SNP	1.000	T
PINK1	65018	genome.wustl.edu	37	1	20966400	20966400	+	Missense_Mutation	SNP	G	G	A			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr1:20966400G>A	ENST00000321556.4	+	3	785	c.691G>A	c.(691-693)Gaa>Aaa	p.E231K	PINK1_ENST00000492302.1_3'UTR|PINK1-AS_ENST00000451424.1_RNA	NM_032409.2	NP_115785.1	Q9BXM7	PINK1_HUMAN	PTEN induced putative kinase 1	231	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159, ECO:0000305}.		E -> G. {ECO:0000269|PubMed:15596610}.		activation of protein kinase B activity (GO:0032148)|cell death (GO:0008219)|cellular response to hypoxia (GO:0071456)|cellular response to toxic substance (GO:0097237)|intracellular signal transduction (GO:0035556)|mitochondrion degradation (GO:0000422)|mitochondrion organization (GO:0007005)|negative regulation of gene expression (GO:0010629)|negative regulation of hydrogen peroxide-induced neuron intrinsic apoptotic signaling pathway (GO:1903384)|negative regulation of JNK cascade (GO:0046329)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of oxidative stress-induced cell death (GO:1903202)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|negative regulation of oxidative stress-induced neuron death (GO:1903204)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|peptidyl-serine autophosphorylation (GO:0036289)|peptidyl-serine phosphorylation (GO:0018105)|phosphorylation (GO:0016310)|positive regulation of dopamine secretion (GO:0033603)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of mitochondrial electron transport, NADH to ubiquinone (GO:1902958)|positive regulation of peptidase activity (GO:0010952)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of synaptic transmission, dopaminergic (GO:0032226)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|protein phosphorylation (GO:0006468)|protein ubiquitination (GO:0016567)|regulation of mitochondrial membrane potential (GO:0051881)|regulation of mitochondrion degradation (GO:1903146)|regulation of protein complex assembly (GO:0043254)|regulation of protein ubiquitination (GO:0031396)|regulation of reactive oxygen species metabolic process (GO:2000377)|regulation of synaptic vesicle transport (GO:1902803)|response to oxidative stress (GO:0006979)|response to stress (GO:0006950)|TORC2 signaling (GO:0038203)|ubiquitin-dependent protein catabolic process (GO:0006511)	astrocyte projection (GO:0097449)|axon (GO:0030424)|cell body (GO:0044297)|chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|integral component of mitochondrial outer membrane (GO:0031307)|Lewy body (GO:0097413)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	ATP binding (GO:0005524)|C3HC4-type RING finger domain binding (GO:0055131)|calcium-dependent protein kinase activity (GO:0010857)|kinase activity (GO:0016301)|magnesium ion binding (GO:0000287)|peptidase activator activity (GO:0016504)|protease binding (GO:0002020)|protein kinase B binding (GO:0043422)|protein serine/threonine kinase activity (GO:0004674)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(4)|ovary(2)	14		all_lung(284;2.72e-05)|Lung NSC(340;2.94e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000147)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|COAD - Colon adenocarcinoma(152;1.21e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000146)|Kidney(64;0.000182)|GBM - Glioblastoma multiforme(114;0.000497)|KIRC - Kidney renal clear cell carcinoma(64;0.00269)|STAD - Stomach adenocarcinoma(196;0.00308)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.199)		TTCCTCCAGCGAAGCCATCTT	0.577											OREG0013195	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									Esophageal Squamous(145;853 1803 8146 34412 35011)												0													52.0	46.0	48.0					1																	20966400		2203	4300	6503	SO:0001583	missense	65018			AB053323	CCDS211.1	1p36.12	2011-07-21			ENSG00000158828	ENSG00000158828		"""Parkinson disease"""	14581	protein-coding gene	gene with protein product		608309	"""Parkinson disease (autosomal recessive) 6"""	PARK6		11494141, 15349860	Standard	NM_032409		Approved		uc001bdm.3	Q9BXM7	OTTHUMG00000002841	ENST00000321556.4:c.691G>A	1.37:g.20966400G>A	ENSP00000364204:p.Glu231Lys	Somatic	744	WXS	Illumina HiSeq	Phase_IV	Q8N6T9|Q8NBU3|Q96DE4	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.E231K	ENST00000321556.4	37	c.691	CCDS211.1	1	.	.	.	.	.	.	.	.	.	.	G	19.19	3.779707	0.70107	.	.	ENSG00000158828	ENST00000321556	T	0.73789	-0.78	5.85	5.85	0.93711	Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.173716	0.52532	D	0.000075	T	0.78020	0.4218	M	0.72894	2.215	0.49687	D	0.99981	D	0.69078	0.997	P	0.51266	0.664	T	0.73914	-0.3832	10	0.12430	T	0.62	-2.6229	15.6578	0.77155	0.0:0.0:1.0:0.0	.	231	Q9BXM7	PINK1_HUMAN	K	231	ENSP00000364204:E231K	ENSP00000364204:E231K	E	+	1	0	PINK1	20838987	1.000000	0.71417	1.000000	0.80357	0.362000	0.29581	8.091000	0.89528	2.767000	0.95098	0.655000	0.94253	GAA	PINK1	-	superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom		0.577	PINK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PINK1	HGNC	protein_coding	OTTHUMT00000007954.1	G	NM_032409		20966400	+1	no_errors	ENST00000321556	ensembl	human	known	70_37	missense	SNP	1.000	A
PKD1	5310	genome.wustl.edu	37	16	2160693	2160693	+	Missense_Mutation	SNP	C	C	T			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr16:2160693C>T	ENST00000262304.4	-	15	4683	c.4475G>A	c.(4474-4476)cGt>cAt	p.R1492H	RP11-304L19.4_ENST00000568795.1_RNA|PKD1_ENST00000423118.1_Missense_Mutation_p.R1492H	NM_001009944.2	NP_001009944	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	1492	PKD 10. {ECO:0000255|PROSITE- ProRule:PRU00151}.				anatomical structure morphogenesis (GO:0009653)|branching morphogenesis of an epithelial tube (GO:0048754)|calcium ion transmembrane transport (GO:0070588)|calcium-independent cell-matrix adhesion (GO:0007161)|cartilage condensation (GO:0001502)|cartilage development (GO:0051216)|cation transmembrane transport (GO:0098655)|cell cycle arrest (GO:0007050)|cell-matrix adhesion (GO:0007160)|cytoplasmic sequestering of transcription factor (GO:0042994)|detection of mechanical stimulus (GO:0050982)|digestive tract development (GO:0048565)|embryonic placenta development (GO:0001892)|genitalia development (GO:0048806)|heart development (GO:0007507)|homophilic cell adhesion (GO:0007156)|in utero embryonic development (GO:0001701)|JAK-STAT cascade (GO:0007259)|kidney development (GO:0001822)|liver development (GO:0001889)|lung epithelium development (GO:0060428)|mesonephric duct development (GO:0072177)|mesonephric tubule development (GO:0072164)|metanephric ascending thin limb development (GO:0072218)|metanephric collecting duct development (GO:0072205)|metanephric distal tubule morphogenesis (GO:0072287)|metanephric proximal tubule development (GO:0072237)|neural tube development (GO:0021915)|neuropeptide signaling pathway (GO:0007218)|nitrogen compound metabolic process (GO:0006807)|peptidyl-serine phosphorylation (GO:0018105)|placenta blood vessel development (GO:0060674)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of protein binding (GO:0032092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein export from nucleus (GO:0006611)|regulation of mitotic spindle organization (GO:0060236)|regulation of proteasomal protein catabolic process (GO:0061136)|response to fluid shear stress (GO:0034405)|skin development (GO:0043588)|spinal cord development (GO:0021510)	basolateral plasma membrane (GO:0016323)|cilium (GO:0005929)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|motile primary cilium (GO:0031512)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|polycystin complex (GO:0002133)	calcium channel activity (GO:0005262)|carbohydrate binding (GO:0030246)|cation channel activity (GO:0005261)|ion channel binding (GO:0044325)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						GGGGCGCCCACGGCCCACAGC	0.652																																																	0													12.0	16.0	15.0					16																	2160693		2141	4242	6383	SO:0001583	missense	5310			L33243	CCDS32369.1, CCDS45385.1	16p13.3	2014-01-28			ENSG00000008710	ENSG00000008710		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	9008	protein-coding gene	gene with protein product	"""polycystin 1"", ""transient receptor potential cation channel, subfamily P, member 1"""	601313					Standard	NM_001009944		Approved	PBP, Pc-1, TRPP1	uc002cos.1	P98161	OTTHUMG00000155795	ENST00000262304.4:c.4475G>A	16.37:g.2160693C>T	ENSP00000262304:p.Arg1492His	Somatic		WXS	Illumina HiSeq	Phase_IV	Q15140|Q15141	Missense_Mutation	SNP	pfam_PKD_dom,pfam_PKD1_2_channel,pfam_PKD/REJ-like,pfam_LipOase_LH2,pfam_C-type_lectin,pfam_WSC_carb-bd,pfam_GPS_dom,superfamily_C-type_lectin_fold,superfamily_Lipase_LipOase,superfamily_PKD_dom,superfamily_Fe_hydrogenase,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_WSC_carb-bd_subgr,smart_PKD/Chitinase_dom,smart_C-type_lectin,smart_GPS_dom,smart_LipOase_LH2,prints_PKD_1,pfscan_GPS_dom,pfscan_C-type_lectin,pfscan_PKD_dom,pfscan_LipOase_LH2,pfscan_REJ-like,pfscan_WSC_carb-bd,tigrfam_Polycystin_cat	p.R1492H	ENST00000262304.4	37	c.4475	CCDS32369.1	16	.	.	.	.	.	.	.	.	.	.	c	2.188	-0.386051	0.04966	.	.	ENSG00000008710	ENST00000262304;ENST00000423118;ENST00000306101	T;T	0.62105	0.05;0.05	5.5	-3.61	0.04556	PKD/Chitinase domain (1);Polycystin cation channel (1);PKD domain (4);	1.370350	0.04160	N	0.322820	T	0.49813	0.1579	L	0.27053	0.805	0.09310	N	1	B;B	0.15141	0.009;0.012	B;B	0.15484	0.002;0.013	T	0.44112	-0.9349	10	0.38643	T	0.18	.	13.3177	0.60417	0.0:0.3705:0.0:0.6295	.	1492;1492	P98161-3;P98161	.;PKD1_HUMAN	H	1492;1492;1173	ENSP00000262304:R1492H;ENSP00000399501:R1492H	ENSP00000262304:R1492H	R	-	2	0	PKD1	2100694	0.000000	0.05858	0.010000	0.14722	0.007000	0.05969	-1.020000	0.03618	-0.332000	0.08489	-0.282000	0.10007	CGT	PKD1	-	pfam_PKD_dom,superfamily_PKD_dom,smart_PKD/Chitinase_dom,pfscan_PKD_dom,tigrfam_Polycystin_cat		0.652	PKD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PKD1	HGNC	protein_coding	OTTHUMT00000341688.1	C			2160693	-1	no_errors	ENST00000262304	ensembl	human	known	70_37	missense	SNP	0.000	T
PKD1	5310	genome.wustl.edu	37	16	2168330	2168330	+	Silent	SNP	G	G	C			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr16:2168330G>C	ENST00000262304.4	-	5	871	c.663C>G	c.(661-663)ctC>ctG	p.L221L	RP11-304L19.2_ENST00000562027.1_RNA|PKD1_ENST00000423118.1_Silent_p.L221L	NM_001009944.2	NP_001009944	P98161	PKD1_HUMAN	polycystic kidney disease 1 (autosomal dominant)	221	WSC. {ECO:0000255|PROSITE- ProRule:PRU00558}.				anatomical structure morphogenesis (GO:0009653)|branching morphogenesis of an epithelial tube (GO:0048754)|calcium ion transmembrane transport (GO:0070588)|calcium-independent cell-matrix adhesion (GO:0007161)|cartilage condensation (GO:0001502)|cartilage development (GO:0051216)|cation transmembrane transport (GO:0098655)|cell cycle arrest (GO:0007050)|cell-matrix adhesion (GO:0007160)|cytoplasmic sequestering of transcription factor (GO:0042994)|detection of mechanical stimulus (GO:0050982)|digestive tract development (GO:0048565)|embryonic placenta development (GO:0001892)|genitalia development (GO:0048806)|heart development (GO:0007507)|homophilic cell adhesion (GO:0007156)|in utero embryonic development (GO:0001701)|JAK-STAT cascade (GO:0007259)|kidney development (GO:0001822)|liver development (GO:0001889)|lung epithelium development (GO:0060428)|mesonephric duct development (GO:0072177)|mesonephric tubule development (GO:0072164)|metanephric ascending thin limb development (GO:0072218)|metanephric collecting duct development (GO:0072205)|metanephric distal tubule morphogenesis (GO:0072287)|metanephric proximal tubule development (GO:0072237)|neural tube development (GO:0021915)|neuropeptide signaling pathway (GO:0007218)|nitrogen compound metabolic process (GO:0006807)|peptidyl-serine phosphorylation (GO:0018105)|placenta blood vessel development (GO:0060674)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of protein binding (GO:0032092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein export from nucleus (GO:0006611)|regulation of mitotic spindle organization (GO:0060236)|regulation of proteasomal protein catabolic process (GO:0061136)|response to fluid shear stress (GO:0034405)|skin development (GO:0043588)|spinal cord development (GO:0021510)	basolateral plasma membrane (GO:0016323)|cilium (GO:0005929)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lateral plasma membrane (GO:0016328)|motile primary cilium (GO:0031512)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|polycystin complex (GO:0002133)	calcium channel activity (GO:0005262)|carbohydrate binding (GO:0030246)|cation channel activity (GO:0005261)|ion channel binding (GO:0044325)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|kidney(6)|lung(34)|prostate(4)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	72						AGAGGGCTGCGAGGCCCTGGC	0.701																																																	0													1.0	1.0	1.0					16																	2168330		929	1737	2666	SO:0001819	synonymous_variant	5310			L33243	CCDS32369.1, CCDS45385.1	16p13.3	2014-01-28			ENSG00000008710	ENSG00000008710		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	9008	protein-coding gene	gene with protein product	"""polycystin 1"", ""transient receptor potential cation channel, subfamily P, member 1"""	601313					Standard	NM_001009944		Approved	PBP, Pc-1, TRPP1	uc002cos.1	P98161	OTTHUMG00000155795	ENST00000262304.4:c.663C>G	16.37:g.2168330G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	Q15140|Q15141	Silent	SNP	pfam_PKD_dom,pfam_PKD1_2_channel,pfam_PKD/REJ-like,pfam_LipOase_LH2,pfam_C-type_lectin,pfam_WSC_carb-bd,pfam_GPS_dom,superfamily_C-type_lectin_fold,superfamily_Lipase_LipOase,superfamily_PKD_dom,superfamily_Fe_hydrogenase,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_WSC_carb-bd_subgr,smart_PKD/Chitinase_dom,smart_C-type_lectin,smart_GPS_dom,smart_LipOase_LH2,prints_PKD_1,pfscan_GPS_dom,pfscan_C-type_lectin,pfscan_PKD_dom,pfscan_LipOase_LH2,pfscan_REJ-like,pfscan_WSC_carb-bd,tigrfam_Polycystin_cat	p.L221	ENST00000262304.4	37	c.663	CCDS32369.1	16																																																																																			PKD1	-	pfam_WSC_carb-bd,smart_WSC_carb-bd_subgr,pfscan_WSC_carb-bd,tigrfam_Polycystin_cat		0.701	PKD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PKD1	HGNC	protein_coding	OTTHUMT00000341688.1	G			2168330	-1	no_errors	ENST00000262304	ensembl	human	known	70_37	silent	SNP	0.000	C
PKD1L3	342372	genome.wustl.edu	37	16	71997209	71997209	+	RNA	SNP	C	C	G			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr16:71997209C>G	ENST00000534738.1	-	0	2506							Q7Z443	PK1L3_HUMAN	polycystic kidney disease 1-like 3						cation transport (GO:0006812)|cellular response to acidic pH (GO:0071468)|detection of chemical stimulus involved in sensory perception of sour taste (GO:0001581)|neuropeptide signaling pathway (GO:0007218)|sensory perception of sour taste (GO:0050915)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|carbohydrate binding (GO:0030246)			autonomic_ganglia(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|lung(3)|skin(2)	22						ATGCCACTTCCTCTTAACTGC	0.468																																																	0													76.0	70.0	72.0					16																	71997209		692	1591	2283			342372			AY164485	CCDS73912.1	16q22.2	2008-02-05				ENSG00000277481			21716	protein-coding gene	gene with protein product		607895				12782129	Standard	NM_181536		Approved		uc010vmm.2	Q7Z443			16.37:g.71997209C>G		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000534738.1	37	NULL		16																																																																																			PKD1L3	-	-		0.468	PKD1L3-001	KNOWN	basic	processed_transcript	PKD1L3	HGNC	processed_transcript	OTTHUMT00000387876.1	C	NM_181536		71997209	-1	no_errors	ENST00000335106	ensembl	human	known	70_37	rna	SNP	0.711	G
PKP1	5317	genome.wustl.edu	37	1	201288982	201288982	+	Missense_Mutation	SNP	C	C	T	rs41269939	byFrequency	TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr1:201288982C>T	ENST00000352845.3	+	7	1271	c.1271C>T	c.(1270-1272)cCg>cTg	p.P424L	PKP1_ENST00000367324.3_Intron|PKP1_ENST00000475988.1_3'UTR|PKP1_ENST00000263946.3_Missense_Mutation_p.P424L			Q13835	PKP1_HUMAN	plakophilin 1	424					apoptotic process (GO:0006915)|cell adhesion (GO:0007155)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|intermediate filament bundle assembly (GO:0045110)|multicellular organismal development (GO:0007275)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)	desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	intermediate filament binding (GO:0019215)|lamin binding (GO:0005521)|signal transducer activity (GO:0004871)|structural constituent of epidermis (GO:0030280)			NS(2)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|ovary(5)|prostate(1)	22						GCTCTTGTTCCGCAAAGGGCC	0.582																																																	0													79.0	80.0	80.0					1																	201288982		2203	4300	6503	SO:0001583	missense	5317			X79293	CCDS30966.1, CCDS30967.1	1q32	2014-06-18	2014-06-18		ENSG00000081277	ENSG00000081277		"""Armadillo repeat containing"""	9023	protein-coding gene	gene with protein product	"""ectodermal dysplasia/skin fragility syndrome"""	601975	"""plakophilin 1 (ectodermal dysplasia/skin fragility syndrome)"""			9272178	Standard	NM_001005337		Approved	B6P	uc001gwd.3	Q13835	OTTHUMG00000035729	ENST00000352845.3:c.1271C>T	1.37:g.201288982C>T	ENSP00000295597:p.Pro424Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	O00645|Q14CA0|Q15152	Missense_Mutation	SNP	pfam_Armadillo,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo	p.P424L	ENST00000352845.3	37	c.1271	CCDS30966.1	1	.	.	.	.	.	.	.	.	.	.	C	9.252	1.040922	0.19669	.	.	ENSG00000081277	ENST00000263946;ENST00000352845	T;T	0.74632	-0.86;-0.86	4.3	-4.07	0.03975	Armadillo-like helical (1);Armadillo-type fold (1);	3.108820	0.01753	U	0.030041	T	0.52273	0.1724	N	0.08118	0	0.09310	N	1	B	0.15719	0.014	B	0.08055	0.003	T	0.42531	-0.9446	10	0.34782	T	0.22	-8.9357	6.7906	0.23697	0.3491:0.3044:0.3465:0.0	.	424	Q13835	PKP1_HUMAN	L	424	ENSP00000263946:P424L;ENSP00000295597:P424L	ENSP00000263946:P424L	P	+	2	0	PKP1	199555605	0.000000	0.05858	0.000000	0.03702	0.011000	0.07611	-0.397000	0.07269	-0.277000	0.09193	0.491000	0.48974	CCG	PKP1	-	superfamily_ARM-type_fold		0.582	PKP1-004	KNOWN	basic|CCDS	protein_coding	PKP1	HGNC	protein_coding	OTTHUMT00000086897.1	C	NM_000299		201288982	+1	no_errors	ENST00000263946	ensembl	human	known	70_37	missense	SNP	0.000	T
PLCB3	5331	genome.wustl.edu	37	11	64026024	64026024	+	Silent	SNP	C	C	T			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr11:64026024C>T	ENST00000540288.1	+	11	1195	c.1092C>T	c.(1090-1092)gaC>gaT	p.D364D	PLCB3_ENST00000325234.5_Silent_p.D297D|PLCB3_ENST00000279230.6_Silent_p.D364D	NM_000932.2	NP_000923.1	Q01970	PLCB3_HUMAN	phospholipase C, beta 3 (phosphatidylinositol-specific)	364	PI-PLC X-box. {ECO:0000255|PROSITE- ProRule:PRU00270}.				inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|regulation of systemic arterial blood pressure (GO:0003073)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|protein complex (GO:0043234)	calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|urinary_tract(1)	33						TGGAGCTGGACGTGTGGAAGG	0.672																																																	0													115.0	100.0	105.0					11																	64026024		2201	4297	6498	SO:0001819	synonymous_variant	5331			Z26649	CCDS8064.1, CCDS53654.1	11q13	2008-03-18			ENSG00000149782	ENSG00000149782	3.1.4.11		9056	protein-coding gene	gene with protein product		600230				7849701	Standard	NM_000932		Approved		uc009ypg.2	Q01970	OTTHUMG00000167816	ENST00000540288.1:c.1092C>T	11.37:g.64026024C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A5PKZ6|G5E960|Q8N1A4	Silent	SNP	pirsf_PLC-beta,pfam_PLC-beta_C,pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_PLipase_C_EF-hand-like,pfam_C2_Ca-dep,pfam_PLC-beta_CS,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_Ca-dep,prints_Pinositol_PLipase_C,pfscan_C2_membr_targeting,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y	p.D364	ENST00000540288.1	37	c.1092	CCDS8064.1	11																																																																																			PLCB3	-	pirsf_PLC-beta,pfam_PLipase_C_PInositol-sp_X_dom,superfamily_PLC-like_Pdiesterase_TIM-brl,smart_PLipase_C_PInositol-sp_X_dom,prints_Pinositol_PLipase_C,pfscan_PLipase_C_PInositol-sp_X_dom		0.672	PLCB3-002	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	PLCB3	HGNC	protein_coding	OTTHUMT00000396405.1	C			64026024	+1	no_errors	ENST00000279230	ensembl	human	known	70_37	silent	SNP	0.997	T
PLCD1	5333	genome.wustl.edu	37	3	38065673	38065673	+	Intron	SNP	G	G	A			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr3:38065673G>A	ENST00000334661.4	-	2	257				PLCD1_ENST00000463876.1_Intron	NM_006225.3	NP_006216.2	P51178	PLCD1_HUMAN	phospholipase C, delta 1						angiogenesis (GO:0001525)|inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|labyrinthine layer blood vessel development (GO:0060716)|lipid catabolic process (GO:0016042)|phospholipid metabolic process (GO:0006644)|regulation of cell proliferation (GO:0042127)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|GTPase activating protein binding (GO:0032794)|phosphatidic acid binding (GO:0070300)|phosphatidylinositol phosphate binding (GO:1901981)|phosphatidylinositol phospholipase C activity (GO:0004435)|phosphatidylserine binding (GO:0001786)|signal transducer activity (GO:0004871)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(6)|lung(6)|prostate(1)|skin(1)	24				KIRC - Kidney renal clear cell carcinoma(284;0.0519)|Kidney(284;0.0653)		TGCAAACACTGCCCCACAGTG	0.527																																																	0																																										SO:0001627	intron_variant	5333				CCDS2671.1, CCDS46793.1	3p22-p21.3	2013-01-10			ENSG00000187091	ENSG00000187091	3.1.4.11	"""EF-hand domain containing"""	9060	protein-coding gene	gene with protein product		602142				9345909	Standard	NM_001130964		Approved		uc003chm.3	P51178	OTTHUMG00000130813	ENST00000334661.4:c.35-3830C>T	3.37:g.38065673G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	B3KR14|Q86VN8	RNA	SNP	-	NULL	ENST00000334661.4	37	NULL	CCDS2671.1	3																																																																																			PLCD1	-	-		0.527	PLCD1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PLCD1	HGNC	protein_coding	OTTHUMT00000253359.2	G			38065673	-1	no_errors	ENST00000473834	ensembl	human	putative	70_37	rna	SNP	0.065	A
PLCE1	51196	genome.wustl.edu	37	10	96058365	96058365	+	Silent	SNP	G	G	A	rs376511806		TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr10:96058365G>A	ENST00000371380.3	+	23	5632	c.5397G>A	c.(5395-5397)ccG>ccA	p.P1799P	PLCE1_ENST00000260766.3_Silent_p.P1799P|PLCE1_ENST00000371375.1_Silent_p.P1491P|PLCE1_ENST00000371385.3_Silent_p.P1491P			Q9P212	PLCE1_HUMAN	phospholipase C, epsilon 1	1799	PI-PLC Y-box. {ECO:0000255|PROSITE- ProRule:PRU00271}.				activation of MAPK activity (GO:0000187)|calcium-mediated signaling (GO:0019722)|cell proliferation (GO:0008283)|cytoskeleton organization (GO:0007010)|diacylglycerol biosynthetic process (GO:0006651)|epidermal growth factor receptor signaling pathway (GO:0007173)|glomerulus development (GO:0032835)|heart development (GO:0007507)|inositol phosphate metabolic process (GO:0043647)|inositol phosphate-mediated signaling (GO:0048016)|lipid catabolic process (GO:0016042)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|phospholipid metabolic process (GO:0006644)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of GTPase activity (GO:0043547)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|Ras protein signal transduction (GO:0007265)|regulation of cell growth (GO:0001558)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|regulation of protein kinase activity (GO:0045859)|regulation of Ras protein signal transduction (GO:0046578)|regulation of smooth muscle contraction (GO:0006940)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|enzyme binding (GO:0019899)|guanyl-nucleotide exchange factor activity (GO:0005085)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|Ras GTPase binding (GO:0017016)|receptor signaling protein activity (GO:0005057)			liver(1)|ovary(2)|skin(4)|upper_aerodigestive_tract(1)	8		Colorectal(252;0.0458)				CTTCCAACCCGAACCCCCTCA	0.557													G|||	1	0.000199681	0.0008	0.0	5008	,	,		16641	0.0		0.0	False		,,,				2504	0.0																0								G	,	1,4091		0,1,2045	119.0	118.0	118.0		4473,5397	1.9	1.0	10		118	1,8399		0,1,4199	no	coding-synonymous,coding-synonymous	PLCE1	NM_001165979.1,NM_016341.3	,	0,2,6244	AA,AG,GG		0.0119,0.0244,0.016	,	1491/1995,1799/2303	96058365	2,12490	2046	4200	6246	SO:0001819	synonymous_variant	51196				CCDS41552.1, CCDS53555.1	10q23	2010-02-22			ENSG00000138193	ENSG00000138193	3.1.4.11		17175	protein-coding gene	gene with protein product	"""nephrosis type 3"""	608414				11022047, 11022048	Standard	NM_016341		Approved	KIAA1516, PLCE, NPHS3	uc001kjk.3	Q9P212	OTTHUMG00000018789	ENST00000371380.3:c.5397G>A	10.37:g.96058365G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	A6NGW0|A6NLA1|A7MBN7|A8K1D7|B9EIJ6|Q1X6H8|Q5VWL4|Q5VWL5|Q9H9X8|Q9HBX6|Q9HC53|Q9UHV3	Silent	SNP	pfam_PLipase_C_PInositol-sp_X_dom,pfam_PLipase_C_Pinositol-sp_Y,pfam_Ras-assoc,pfam_RasGRF_CDC25,pfam_PLipase_C_EF-hand-like,pfam_C2_Ca-dep,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_Ras_GEF_dom,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_RasGRF_CDC25,smart_PLipase_C_PInositol-sp_X_dom,smart_PLipase_C_Pinositol-sp_Y,smart_C2_Ca-dep,smart_Ras-assoc,pfscan_C2_membr_targeting,pfscan_Ras-assoc,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,pfscan_RasGRF_CDC25,prints_Pinositol_PLipase_C	p.P1799	ENST00000371380.3	37	c.5397	CCDS41552.1	10																																																																																			PLCE1	-	pfam_PLipase_C_Pinositol-sp_Y,superfamily_PLC-like_Pdiesterase_TIM-brl,smart_PLipase_C_Pinositol-sp_Y,pfscan_PLipase_C_Pinositol-sp_Y,prints_Pinositol_PLipase_C		0.557	PLCE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PLCE1	HGNC	protein_coding	OTTHUMT00000049469.3	G	NM_016341		96058365	+1	no_errors	ENST00000371380	ensembl	human	known	70_37	silent	SNP	0.997	A
PLCG1	5335	genome.wustl.edu	37	20	39795201	39795201	+	Missense_Mutation	SNP	C	C	T			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr20:39795201C>T	ENST00000373271.1	+	18	2491	c.2086C>T	c.(2086-2088)Cgg>Tgg	p.R696W	PLCG1_ENST00000244007.3_Missense_Mutation_p.R696W|PLCG1_ENST00000373272.2_Missense_Mutation_p.R696W	NM_182811.1	NP_877963.1	P19174	PLCG1_HUMAN	phospholipase C, gamma 1	696	SH2 2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				activation of MAPKK activity (GO:0000186)|activation of phospholipase C activity (GO:0007202)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium-mediated signaling (GO:0019722)|cell migration (GO:0016477)|cellular response to epidermal growth factor stimulus (GO:0071364)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|inositol phosphate metabolic process (GO:0043647)|leukocyte migration (GO:0050900)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phospholipid catabolic process (GO:0009395)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)|viral process (GO:0016032)	cell projection (GO:0042995)|cell-cell junction (GO:0005911)|COP9 signalosome (GO:0008180)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	calcium ion binding (GO:0005509)|neurotrophin TRKA receptor binding (GO:0005168)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|protein kinase binding (GO:0019901)|receptor signaling protein activity (GO:0005057)			breast(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(16)|skin(6)|urinary_tract(2)	46		Myeloproliferative disorder(115;0.00878)				GGTGCGGAAGCGGAATGAACC	0.602																																																	0													111.0	99.0	103.0					20																	39795201		2203	4300	6503	SO:0001583	missense	5335			M34667	CCDS13313.1, CCDS13314.1	20q12-q13.1	2013-02-14	2004-01-29		ENSG00000124181	ENSG00000124181	3.1.4.11	"""Pleckstrin homology (PH) domain containing"", ""EF-hand domain containing"", ""SH2 domain containing"""	9065	protein-coding gene	gene with protein product		172420	"""phospholipase C, gamma 1 (formerly subtype 148)"""	PLC1		2167438, 3254788	Standard	NM_182811		Approved	PLC148, PLC-II, PLCgamma1, NCKAP3	uc002xjo.1	P19174	OTTHUMG00000033082	ENST00000373271.1:c.2086C>T	20.37:g.39795201C>T	ENSP00000362368:p.Arg696Trp	Somatic		WXS	Illumina HiSeq	Phase_IV	B7ZLY7|B9EGH4|E1P5W4|Q2V575	Missense_Mutation	SNP	pfam_PLipase_C_PInositol-sp_X_dom,pfam_SH2,pfam_PLipase_C_Pinositol-sp_Y,pfam_Pleckstrin_homology,pfam_C2_Ca-dep,pfam_SH3_domain,pfam_SH3_2,pfam_PLipase_C_EF-hand-like,superfamily_PLC-like_Pdiesterase_TIM-brl,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_SH3_domain,smart_Pleckstrin_homology,smart_PLipase_C_PInositol-sp_X_dom,smart_SH2,smart_SH3_domain,smart_PLipase_C_Pinositol-sp_Y,smart_C2_Ca-dep,pirsf_PLC-gamma,pfscan_EF_HAND_2,pfscan_C2_membr_targeting,pfscan_Pleckstrin_homology,pfscan_SH2,pfscan_SH3_domain,pfscan_PLipase_C_PInositol-sp_X_dom,pfscan_PLipase_C_Pinositol-sp_Y,prints_Pinositol_PLipase_C,prints_SH2	p.R696W	ENST00000373271.1	37	c.2086	CCDS13314.1	20	.	.	.	.	.	.	.	.	.	.	C	19.33	3.806688	0.70682	.	.	ENSG00000124181	ENST00000244007;ENST00000373271;ENST00000373272	D;D;D	0.89123	-2.47;-2.47;-2.47	5.7	4.7	0.59300	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (1);SH2 motif (5);	0.047450	0.85682	D	0.000000	D	0.94866	0.8341	M	0.89904	3.07	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.999;1.0;0.998;0.999	D	0.94880	0.8038	10	0.72032	D	0.01	.	12.3518	0.55153	0.317:0.683:0.0:0.0	.	696;272;696;696	P19174-2;B4DMA3;P19174;A2A284	.;.;PLCG1_HUMAN;.	W	696	ENSP00000244007:R696W;ENSP00000362368:R696W;ENSP00000362369:R696W	ENSP00000244007:R696W	R	+	1	2	PLCG1	39228615	0.997000	0.39634	1.000000	0.80357	0.686000	0.39977	0.754000	0.26390	2.848000	0.98002	0.655000	0.94253	CGG	PLCG1	-	pfam_SH2,superfamily_PLC-like_Pdiesterase_TIM-brl,smart_SH2,pirsf_PLC-gamma,pfscan_SH2,prints_SH2		0.602	PLCG1-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	PLCG1	HGNC	protein_coding	OTTHUMT00000080514.3	C	NM_182811		39795201	+1	no_errors	ENST00000244007	ensembl	human	known	70_37	missense	SNP	1.000	T
CAPZA3	93661	genome.wustl.edu	37	12	18889263	18889263	+	5'Flank	SNP	C	C	G			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr12:18889263C>G	ENST00000317658.3	+	0	0				PLCZ1_ENST00000435379.1_Missense_Mutation_p.K7N|RP11-361I14.2_ENST00000536931.1_RNA|PLCZ1_ENST00000539875.1_Missense_Mutation_p.K9N|PLCZ1_ENST00000447925.2_Missense_Mutation_p.K7N|PLCZ1_ENST00000266505.7_Missense_Mutation_p.K9N	NM_033328.2	NP_201585.1	Q96KX2	CAZA3_HUMAN	capping protein (actin filament) muscle Z-line, alpha 3						actin cytoskeleton organization (GO:0030036)|actin filament capping (GO:0051693)|spermatid development (GO:0007286)	acrosomal vesicle (GO:0001669)|cortical cytoskeleton (GO:0030863)|F-actin capping protein complex (GO:0008290)|membrane (GO:0016020)|nucleus (GO:0005634)|WASH complex (GO:0071203)				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|prostate(1)	19	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241)	Hepatocellular(102;0.194)				CATCCTGAATCTTTGACAAAA	0.299																																																	0													55.0	57.0	56.0					12																	18889263		2203	4300	6503	SO:0001631	upstream_gene_variant	89869			AB053259	CCDS8681.1	12p12.3	2008-02-05			ENSG00000177938	ENSG00000177938			24205	protein-coding gene	gene with protein product		608722				12029070	Standard	NM_033328		Approved	Gsg3, CAPPA3	uc001rdy.3	Q96KX2	OTTHUMG00000169001		12.37:g.18889263C>G	Exception_encountered	Somatic		WXS	Illumina HiSeq	Phase_IV	Q969J0	Splice_Site	SNP	-	NULL	ENST00000317658.3	37	c.NULL	CCDS8681.1	12	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	6.141|6.141	0.394239|0.394239	0.11638|0.11638	.|.	.|.	ENSG00000139151|ENSG00000139151	ENST00000539072|ENST00000266505;ENST00000447925;ENST00000435379;ENST00000539875	.|T;T;T;T	.|0.47528	.|0.84;0.84;1.83;1.83	5.5|5.5	2.43|2.43	0.29744|0.29744	.|.	.|0.685183	.|0.14631	.|N	.|0.307821	.|T	.|0.27313	.|0.0670	L|L	0.27053|0.27053	0.805|0.805	0.09310|0.09310	N|N	0.999994|0.999994	.|P	.|0.34909	.|0.475	.|B	.|0.31614	.|0.133	.|T	.|0.09640	.|-1.0665	.|10	.|0.13108	.|T	.|0.6	.|.	7.0564|7.0564	0.25102|0.25102	0.3232:0.4331:0.2436:0.0|0.3232:0.4331:0.2436:0.0	.|.	.|9	.|Q86YW0	.|PLCZ1_HUMAN	.|N	-1|9;7;7;9	.|ENSP00000266505:K9N;ENSP00000402358:K7N;ENSP00000400504:K7N;ENSP00000445026:K9N	.|ENSP00000266505:K9N	.|K	-|-	.|3	.|2	PLCZ1|PLCZ1	18780530|18780530	0.124000|0.124000	0.22315|0.22315	0.707000|0.707000	0.30419|0.30419	0.393000|0.393000	0.30537|0.30537	0.624000|0.624000	0.24462|0.24462	1.296000|1.296000	0.44742|0.44742	0.313000|0.313000	0.20887|0.20887	.|AAG	PLCZ1	-	-		0.299	CAPZA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLCZ1	HGNC	protein_coding	OTTHUMT00000401902.1	C	NM_033328		18889263	-1	no_errors	ENST00000541109	ensembl	human	known	70_37	splice_site	SNP	0.250	G
PLD1	5337	genome.wustl.edu	37	3	171394595	171394595	+	Silent	SNP	C	C	G			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr3:171394595C>G	ENST00000351298.4	-	18	2151	c.2025G>C	c.(2023-2025)cgG>cgC	p.R675R	PLD1_ENST00000356327.5_Silent_p.R637R|PLD1_ENST00000342215.6_Missense_Mutation_p.G566A|PLD1_ENST00000340989.4_Silent_p.R675R	NM_002662.4	NP_002653.1	Q13393	PLD1_HUMAN	phospholipase D1, phosphatidylcholine-specific	675	Catalytic.				chemotaxis (GO:0006935)|defense response to Gram-positive bacterium (GO:0050830)|glycerophospholipid biosynthetic process (GO:0046474)|lipid catabolic process (GO:0016042)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylglycerol biosynthetic process (GO:0006655)|phospholipid metabolic process (GO:0006644)|Ras protein signal transduction (GO:0007265)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)	N-acylphosphatidylethanolamine-specific phospholipase D activity (GO:0070290)|phosphatidylinositol binding (GO:0035091)|phospholipase D activity (GO:0004630)	p.R675R(1)		breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(15)|lung(27)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	63	all_cancers(22;4.53e-19)|Ovarian(172;0.00197)|Breast(254;0.186)		LUSC - Lung squamous cell carcinoma(14;3.57e-14)|Lung(28;9.39e-14)		Choline(DB00122)	GCCAGGGCATCCGGGGCGTGG	0.542																																					NSCLC(149;2174 3517 34058)												1	Substitution - coding silent(1)	lung(1)											69.0	60.0	63.0					3																	171394595		2203	4300	6503	SO:0001819	synonymous_variant	5337			U38545	CCDS3216.1, CCDS46957.1	3q26	2013-01-10	2006-02-17		ENSG00000075651	ENSG00000075651	3.1.4.4	"""Pleckstrin homology (PH) domain containing"""	9067	protein-coding gene	gene with protein product	"""choline phosphatase 1"""	602382				9858822, 8530346	Standard	NM_002662		Approved		uc003fhs.3	Q13393	OTTHUMG00000156947	ENST00000351298.4:c.2025G>C	3.37:g.171394595C>G		Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_Phox,pfam_PLipase_D/transphosphatidylase,pfam_Pleckstrin_homology,superfamily_Phox,smart_Phox,smart_Pleckstrin_homology,smart_PLipase_D/transphosphatidylase,pfscan_Phox,pfscan_PLipase_D/transphosphatidylase	p.G566A	ENST00000351298.4	37	c.1697	CCDS3216.1	3	.	.	.	.	.	.	.	.	.	.	C	15.15	2.746976	0.49257	.	.	ENSG00000075651	ENST00000342215	T	0.34859	1.34	5.81	1.79	0.24919	.	.	.	.	.	T	0.14141	0.0342	.	.	.	0.25709	N	0.98551	.	.	.	.	.	.	T	0.26503	-1.0101	6	0.07325	T	0.83	-17.873	6.9399	0.24486	0.0:0.5689:0.2366:0.1945	.	.	.	.	A	566	ENSP00000339936:G566A	ENSP00000339936:G566A	G	-	2	0	PLD1	172877289	0.990000	0.36364	1.000000	0.80357	0.985000	0.73830	0.261000	0.18442	0.780000	0.33566	0.557000	0.71058	GGA	PLD1	-	NULL		0.542	PLD1-001	KNOWN	basic|CCDS	protein_coding	PLD1	HGNC	protein_coding	OTTHUMT00000346730.2	C	NM_002662		171394595	-1	no_errors	ENST00000342215	ensembl	human	known	70_37	missense	SNP	0.998	G
PLEKHG3	26030	genome.wustl.edu	37	14	65208577	65208577	+	Missense_Mutation	SNP	C	C	T			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr14:65208577C>T	ENST00000394691.1	+	16	2489	c.2342C>T	c.(2341-2343)cCg>cTg	p.P781L	PLEKHG3_ENST00000471182.2_Missense_Mutation_p.P314L|PLEKHG3_ENST00000484731.2_Missense_Mutation_p.P286L|PLEKHG3_ENST00000247226.7_Missense_Mutation_p.P725L|PLEKHG3_ENST00000492928.1_Intron			A1L390	PKHG3_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 3	781							Rho guanyl-nucleotide exchange factor activity (GO:0005089)			endometrium(5)|kidney(2)|large_intestine(1)|lung(14)|prostate(2)|skin(3)|urinary_tract(2)	29				all cancers(60;0.00802)|OV - Ovarian serous cystadenocarcinoma(108;0.0109)|BRCA - Breast invasive adenocarcinoma(234;0.0485)		GGCTCCCGGCCGACTTCGTGG	0.597																																																	0													59.0	71.0	67.0					14																	65208577		2203	4300	6503	SO:0001583	missense	26030			AB011171	CCDS32098.1	14q23.3	2013-01-10	2004-12-01	2004-12-01	ENSG00000126822	ENSG00000126822		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	20364	protein-coding gene	gene with protein product			"""KIAA0599"""	KIAA0599			Standard	XM_005267511		Approved	ARHGEF43	uc001xhp.2	A1L390	OTTHUMG00000029671	ENST00000394691.1:c.2342C>T	14.37:g.65208577C>T	ENSP00000378183:p.Pro781Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	A1L389|B5MEC9|O60339|Q6GMS3|Q6P4B1|Q7L3S3|Q86SW7|Q8TEF5|Q96EW6|Q9BT82	Missense_Mutation	SNP	pfam_DH-domain,pfam_Pleckstrin_homology,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain	p.P781L	ENST00000394691.1	37	c.2342		14	.	.	.	.	.	.	.	.	.	.	C	14.47	2.545367	0.45280	.	.	ENSG00000126822	ENST00000247226;ENST00000394691;ENST00000471182;ENST00000484731	T;T;T;T	0.64260	0.37;-0.09;1.31;1.33	5.97	4.17	0.49024	.	0.394016	0.24864	N	0.034983	T	0.54647	0.1871	M	0.61703	1.905	0.44508	D	0.997457	P;P;P;P	0.50369	0.934;0.861;0.783;0.862	B;B;B;B	0.37650	0.255;0.124;0.034;0.075	T	0.53704	-0.8401	10	0.32370	T	0.25	.	11.7116	0.51628	0.0:0.8556:0.0:0.1444	.	314;286;781;725	A1L390-2;G3V311;A1L390;A1L390-3	.;.;PKHG3_HUMAN;.	L	725;781;314;286	ENSP00000247226:P725L;ENSP00000378183:P781L;ENSP00000450945:P314L;ENSP00000450973:P286L	ENSP00000247226:P725L	P	+	2	0	PLEKHG3	64278330	0.027000	0.19231	0.143000	0.22291	0.962000	0.63368	1.303000	0.33470	0.875000	0.35847	0.655000	0.94253	CCG	PLEKHG3	-	NULL		0.597	PLEKHG3-010	KNOWN	basic|appris_principal	protein_coding	PLEKHG3	HGNC	protein_coding	OTTHUMT00000412028.1	C	NM_015549		65208577	+1	no_errors	ENST00000394691	ensembl	human	known	70_37	missense	SNP	0.918	T
PLEKHG4B	153478	genome.wustl.edu	37	5	171548	171548	+	Missense_Mutation	SNP	C	C	T			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr5:171548C>T	ENST00000283426.6	+	14	3021	c.2971C>T	c.(2971-2973)Cgc>Tgc	p.R991C		NM_052909.3	NP_443141.3	Q96PX9	PKH4B_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 4B	991							Rho guanyl-nucleotide exchange factor activity (GO:0005089)			endometrium(1)|large_intestine(2)|lung(2)|prostate(3)|skin(3)	11			all cancers(22;0.0253)|Lung(60;0.113)	Kidney(1;0.119)		GGACGCCATCCGCGGCTGTGA	0.647																																																	0													17.0	19.0	18.0					5																	171548		2199	4294	6493	SO:0001583	missense	153478			BC008352	CCDS34124.1	5p15.33	2013-01-11			ENSG00000153404	ENSG00000153404		"""Pleckstrin homology (PH) domain containing"""	29399	protein-coding gene	gene with protein product						11572484	Standard	NM_052909		Approved	KIAA1909	uc003jak.2	Q96PX9	OTTHUMG00000161570	ENST00000283426.6:c.2971C>T	5.37:g.171548C>T	ENSP00000283426:p.Arg991Cys	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_DH-domain,superfamily_DH-domain,superfamily_CRAL-TRIO_dom,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain	p.R991C	ENST00000283426.6	37	c.2971	CCDS34124.1	5	.	.	.	.	.	.	.	.	.	.	C	16.40	3.113829	0.56398	.	.	ENSG00000153404	ENST00000283426	T	0.34072	1.38	2.79	2.79	0.32731	Pleckstrin homology-type (1);	.	.	.	.	T	0.59609	0.2206	M	0.83774	2.66	0.47949	D	0.999555	D	0.89917	1.0	D	0.78314	0.991	T	0.64791	-0.6324	9	0.87932	D	0	.	10.9474	0.47308	0.0:1.0:0.0:0.0	.	991	Q96PX9	PKH4B_HUMAN	C	991	ENSP00000283426:R991C	ENSP00000283426:R991C	R	+	1	0	PLEKHG4B	224548	1.000000	0.71417	0.299000	0.25016	0.902000	0.53008	2.024000	0.41049	1.075000	0.40932	0.313000	0.20887	CGC	PLEKHG4B	-	NULL		0.647	PLEKHG4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLEKHG4B	HGNC	protein_coding	OTTHUMT00000365359.1	C	NM_052909		171548	+1	no_errors	ENST00000283426	ensembl	human	known	70_37	missense	SNP	1.000	T
PLEKHG6	55200	genome.wustl.edu	37	12	6425464	6425464	+	Missense_Mutation	SNP	G	G	A			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr12:6425464G>A	ENST00000396988.3	+	7	880	c.650G>A	c.(649-651)cGa>cAa	p.R217Q	PLEKHG6_ENST00000449001.2_Missense_Mutation_p.R185Q|PLEKHG6_ENST00000536531.1_Missense_Mutation_p.R217Q|PLEKHG6_ENST00000011684.7_Missense_Mutation_p.R217Q	NM_001144856.1	NP_001138328.1	Q3KR16	PKHG6_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 6	217	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.					cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(6)|ovary(1)|prostate(2)|skin(4)	23						AGCCTGATTCGAACCCACCGG	0.622																																																	0													37.0	35.0	36.0					12																	6425464		2182	4257	6439	SO:0001583	missense	55200			AK001527	CCDS8541.1, CCDS44808.1	12p13.31	2013-01-11			ENSG00000008323	ENSG00000008323		"""Pleckstrin homology (PH) domain containing"""	25562	protein-coding gene	gene with protein product		611743					Standard	NM_018173		Approved	FLJ10665	uc001qnr.3	Q3KR16	OTTHUMG00000168266	ENST00000396988.3:c.650G>A	12.37:g.6425464G>A	ENSP00000380185:p.Arg217Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	Q3SWR1|Q8N1P1|Q8WYY1|Q9H8F4|Q9NVK9	Missense_Mutation	SNP	pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain	p.R217Q	ENST00000396988.3	37	c.650	CCDS8541.1	12	.	.	.	.	.	.	.	.	.	.	G	18.62	3.662892	0.67700	.	.	ENSG00000008323	ENST00000011684;ENST00000536531;ENST00000396988;ENST00000449001	T;T;T;T	0.62232	0.04;0.04;0.04;0.04	4.83	4.83	0.62350	Dbl homology (DH) domain (5);	0.342886	0.24757	N	0.035850	T	0.64427	0.2597	N	0.21508	0.67	0.80722	D	1	P;P;D	0.89917	0.744;0.744;1.0	B;B;D	0.71414	0.167;0.119;0.973	T	0.59685	-0.7408	10	0.25106	T	0.35	-16.1181	13.3031	0.60336	0.0:0.0:1.0:0.0	.	185;217;217	Q3KR16-2;F5H731;Q3KR16	.;.;PKHG6_HUMAN	Q	217;217;217;185	ENSP00000011684:R217Q;ENSP00000442836:R217Q;ENSP00000380185:R217Q;ENSP00000393194:R185Q	ENSP00000011684:R217Q	R	+	2	0	PLEKHG6	6295725	0.999000	0.42202	0.980000	0.43619	0.705000	0.40729	2.447000	0.44917	2.509000	0.84616	0.561000	0.74099	CGA	PLEKHG6	-	pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,pfscan_DH-domain		0.622	PLEKHG6-003	NOVEL	basic|appris_principal|CCDS	protein_coding	PLEKHG6	HGNC	protein_coding	OTTHUMT00000399031.1	G	NM_018173		6425464	+1	no_errors	ENST00000011684	ensembl	human	known	70_37	missense	SNP	0.994	A
PLEKHG7	440107	genome.wustl.edu	37	12	93162806	93162806	+	Nonsense_Mutation	SNP	C	C	T	rs368328583		TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr12:93162806C>T	ENST00000344636.3	+	11	1166	c.982C>T	c.(982-984)Cga>Tga	p.R328*		NM_001004330.2	NP_001004330.1	Q6ZR37	PKHG7_HUMAN	pleckstrin homology domain containing, family G (with RhoGef domain) member 7	328	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.						Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)	17						AAACAGATATCGACAGTGTAT	0.318																																																	0								C	stop/ARG	1,4405	2.1+/-5.4	0,1,2202	89.0	86.0	87.0		982	4.8	0.0	12		87	0,8600		0,0,4300	no	stop-gained	PLEKHG7	NM_001004330.2		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		328/380	93162806	1,13005	2203	4300	6503	SO:0001587	stop_gained	440107			AK128530	CCDS31873.1	12q22	2013-01-11				ENSG00000187510		"""Pleckstrin homology (PH) domain containing"""	33829	protein-coding gene	gene with protein product							Standard	NM_001004330		Approved	FLJ46688	uc001tcj.2	Q6ZR37		ENST00000344636.3:c.982C>T	12.37:g.93162806C>T	ENSP00000344961:p.Arg328*	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RNR7	Nonsense_Mutation	SNP	pfam_DH-domain,superfamily_DH-domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_DH-domain	p.R328*	ENST00000344636.3	37	c.982	CCDS31873.1	12	.	.	.	.	.	.	.	.	.	.	C	35	5.472313	0.96274	2.27E-4	0.0	ENSG00000187510	ENST00000344636	.	.	.	5.68	4.79	0.61399	.	0.253277	0.39834	N	0.001241	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.07813	T	0.8	-18.8685	13.7498	0.62901	0.0:0.9249:0.0:0.0751	.	.	.	.	X	328	.	ENSP00000344961:R328X	R	+	1	2	PLEKHG7	91686937	0.022000	0.18835	0.003000	0.11579	0.492000	0.33523	2.022000	0.41030	1.370000	0.46153	0.655000	0.94253	CGA	PLEKHG7	-	smart_Pleckstrin_homology,pfscan_Pleckstrin_homology		0.318	PLEKHG7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLEKHG7	HGNC	protein_coding	OTTHUMT00000407288.1	C	NM_001004330		93162806	+1	no_errors	ENST00000344636	ensembl	human	known	70_37	nonsense	SNP	0.928	T
PLIN2	123	genome.wustl.edu	37	9	19126395	19126395	+	Splice_Site	SNP	C	C	T	rs151104975		TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr9:19126395C>T	ENST00000276914.2	-	2	209	c.30G>A	c.(28-30)ccG>ccA	p.P10P	PLIN2_ENST00000380465.3_Splice_Site_p.P10P|PLIN2_ENST00000380464.3_Splice_Site_p.P10P|PLIN2_ENST00000411567.1_Splice_Site_p.P10P	NM_001122.3	NP_001113.2	Q99541	PLIN2_HUMAN	perilipin 2	10					cellular lipid metabolic process (GO:0044255)|lipid storage (GO:0019915)|long-chain fatty acid transport (GO:0015909)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|lipid particle (GO:0005811)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	19						AAATTCATACCGGTTGTGGAT	0.413																																																	0								C		0,4406		0,0,2203	110.0	111.0	110.0		30	4.4	1.0	9	dbSNP_134	110	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous-near-splice	PLIN2	NM_001122.3		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		10/438	19126395	1,13005	2203	4300	6503	SO:0001630	splice_region_variant	123			X97324	CCDS6490.1	9p22.1	2009-08-12	2009-08-12	2009-08-12	ENSG00000147872	ENSG00000147872		"""Perilipins"""	248	protein-coding gene	gene with protein product	"""adipophilin"""	103195	"""adipose differentiation-related protein"""	ADFP		9003395, 19638644	Standard	NM_001122		Approved	ADRP	uc003zno.3	Q99541	OTTHUMG00000019624	ENST00000276914.2:c.30+1G>A	9.37:g.19126395C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q9BSC3	Silent	SNP	pfam_Perilipin,pirsf_Perilipin	p.P10	ENST00000276914.2	37	c.30	CCDS6490.1	9																																																																																			PLIN2	-	pfam_Perilipin,pirsf_Perilipin		0.413	PLIN2-007	KNOWN	basic|appris_principal|CCDS	protein_coding	PLIN2	HGNC	protein_coding	OTTHUMT00000051835.1	C	NM_001122	Silent	19126395	-1	no_errors	ENST00000276914	ensembl	human	known	70_37	silent	SNP	1.000	T
PLIN4	729359	genome.wustl.edu	37	19	4508870	4508870	+	Silent	SNP	C	C	T			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr19:4508870C>T	ENST00000301286.3	-	4	3569	c.3570G>A	c.(3568-3570)caG>caA	p.Q1190Q		NM_001080400.1	NP_001073869.1	Q96Q06	PLIN4_HUMAN	perilipin 4	1190						cytoplasm (GO:0005737)|lipid particle (GO:0005811)|plasma membrane (GO:0005886)				NS(2)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)|soft_tissue(1)|stomach(2)	41						CAAATGCCCGCTGGCGGAAGC	0.632																																																	0													35.0	45.0	42.0					19																	4508870		2055	4185	6240	SO:0001819	synonymous_variant	729359			AB067468	CCDS45927.1	19p13.3	2009-10-06	2009-08-12	2009-08-12	ENSG00000167676	ENSG00000167676		"""Perilipins"""	29393	protein-coding gene	gene with protein product		613247	"""KIAA1881"""	KIAA1881		11572484, 19638644	Standard	NM_001080400		Approved	S3-12	uc002mar.1	Q96Q06	OTTHUMG00000167571	ENST00000301286.3:c.3570G>A	19.37:g.4508870C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A6NEI2	Silent	SNP	pfam_Perilipin,superfamily_Ankyrin_rpt-contain_dom	p.Q1190	ENST00000301286.3	37	c.3570	CCDS45927.1	19																																																																																			PLIN4	-	pfam_Perilipin		0.632	PLIN4-001	NOVEL	basic|appris_principal|CCDS	protein_coding	PLIN4	HGNC	protein_coding	OTTHUMT00000395095.1	C	XM_170901		4508870	-1	no_errors	ENST00000301286	ensembl	human	novel	70_37	silent	SNP	1.000	T
KIZ-AS1	101929591	genome.wustl.edu	37	20	21142657	21142657	+	RNA	SNP	A	A	C			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr20:21142657A>C	ENST00000591761.1	-	0	5142				RP5-872K7.7_ENST00000425746.2_RNA|PLK1S1_ENST00000457464.1_RNA																							CAGCCCACAAAGAACTTTTCA	0.458																																																	0													73.0	71.0	71.0					20																	21142657		1935	4144	6079			55857																															20.37:g.21142657A>C		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000591761.1	37	NULL		20																																																																																			PLK1S1	-	-		0.458	RP4-777D9.2-002	KNOWN	basic	antisense	PLK1S1	HGNC	antisense	OTTHUMT00000078258.2	A			21142657	+1	no_errors	ENST00000246027	ensembl	human	known	70_37	rna	SNP	1.000	C
PLXNA1	5361	genome.wustl.edu	37	3	126708574	126708574	+	Missense_Mutation	SNP	G	G	A			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr3:126708574G>A	ENST00000393409.2	+	1	1138	c.1138G>A	c.(1138-1140)Gag>Aag	p.E380K	PLXNA1_ENST00000251772.4_Missense_Mutation_p.E357K	NM_032242.3	NP_115618.3	Q9UIW2	PLXA1_HUMAN	plexin A1	380	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|multicellular organismal development (GO:0007275)|regulation of smooth muscle cell migration (GO:0014910)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	receptor activity (GO:0004872)|semaphorin receptor activity (GO:0017154)	p.E357K(1)		breast(3)|central_nervous_system(5)|endometrium(10)|kidney(5)|large_intestine(4)|lung(32)|ovary(2)|pancreas(1)|prostate(2)|skin(3)	67				GBM - Glioblastoma multiforme(114;0.155)		CTACCGTGGTGAGGGCAAGCT	0.632																																																	1	Substitution - Missense(1)	lung(1)											82.0	76.0	78.0					3																	126708574		2203	4299	6502	SO:0001583	missense	5361			X87832	CCDS33847.1, CCDS33847.2	3q21.2	2006-12-19				ENSG00000114554		"""Plexins"""	9099	protein-coding gene	gene with protein product		601055		PLXN1		8570614	Standard	NM_032242		Approved	NOV	uc003ejg.3	Q9UIW2		ENST00000393409.2:c.1138G>A	3.37:g.126708574G>A	ENSP00000377061:p.Glu380Lys	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_Semaphorin/CD100_Ag,pfam_IPT_TIG_rcpt,pfam_Plexin_repeat,superfamily_Semaphorin/CD100_Ag,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,smart_IPT_TIG_rcpt,pfscan_Semaphorin/CD100_Ag	p.E380K	ENST00000393409.2	37	c.1138	CCDS33847.2	3	.	.	.	.	.	.	.	.	.	.	G	13.18	2.159647	0.38119	.	.	ENSG00000114554	ENST00000393409;ENST00000251772	T;T	0.10763	2.84;2.84	4.0	4.0	0.46444	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.069764	0.53938	D	0.000048	T	0.20659	0.0497	M	0.72576	2.205	0.40507	D	0.9807	P	0.39520	0.676	P	0.44772	0.46	T	0.05733	-1.0867	10	0.48119	T	0.1	.	16.2802	0.82672	0.0:0.0:1.0:0.0	.	380	Q9UIW2	PLXA1_HUMAN	K	380;357	ENSP00000377061:E380K;ENSP00000251772:E357K	ENSP00000251772:E357K	E	+	1	0	PLXNA1	128191264	1.000000	0.71417	0.893000	0.35052	0.137000	0.21094	6.293000	0.72731	2.078000	0.62432	0.491000	0.48974	GAG	PLXNA1	-	pfam_Semaphorin/CD100_Ag,superfamily_Semaphorin/CD100_Ag,smart_Semaphorin/CD100_Ag,pfscan_Semaphorin/CD100_Ag		0.632	PLXNA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLXNA1	HGNC	protein_coding	OTTHUMT00000356451.1	G	NM_032242		126708574	+1	no_errors	ENST00000393409	ensembl	human	known	70_37	missense	SNP	0.959	A
PLXNA3	55558	genome.wustl.edu	37	X	153694577	153694577	+	Missense_Mutation	SNP	C	C	A			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chrX:153694577C>A	ENST00000369682.3	+	15	2938	c.2763C>A	c.(2761-2763)gaC>gaA	p.D921E		NM_017514.3	NP_059984.3	P51805	PLXA3_HUMAN	plexin A3	921	IPT/TIG 1.				axon guidance (GO:0007411)|branchiomotor neuron axon guidance (GO:0021785)|facial nerve structural organization (GO:0021612)|hippocampus development (GO:0021766)|multicellular organismal development (GO:0007275)|negative chemotaxis (GO:0050919)|negative regulation of axon extension involved in axon guidance (GO:0048843)|positive regulation of cytoskeleton organization (GO:0051495)|pyramidal neuron development (GO:0021860)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|trigeminal nerve structural organization (GO:0021637)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)|transmembrane signaling receptor activity (GO:0004888)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	48	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GTTCAGCCGACTTCCGCACGC	0.662																																																	0													92.0	95.0	94.0					X																	153694577		2203	4300	6503	SO:0001583	missense	55558			X74609	CCDS14752.1	Xq28	2008-02-05			ENSG00000130827	ENSG00000130827		"""Plexins"""	9101	protein-coding gene	gene with protein product		300022		PLXN4		8248200, 8733135	Standard	NM_017514		Approved	SEX, XAP-6, 6.3, Plxn3	uc004flm.3	P51805	OTTHUMG00000033290	ENST00000369682.3:c.2763C>A	X.37:g.153694577C>A	ENSP00000358696:p.Asp921Glu	Somatic		WXS	Illumina HiSeq	Phase_IV	Q5HY36	Missense_Mutation	SNP	pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_Semaphorin/CD100_Ag,pfam_IPT_TIG_rcpt,pfam_Plexin_repeat,superfamily_Semaphorin/CD100_Ag,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,smart_IPT_TIG_rcpt,pfscan_Semaphorin/CD100_Ag	p.D921E	ENST00000369682.3	37	c.2763	CCDS14752.1	X	.	.	.	.	.	.	.	.	.	.	C	4.226	0.040776	0.08196	.	.	ENSG00000130827	ENST00000369682	T	0.59638	0.25	5.32	5.32	0.75619	Cell surface receptor IPT/TIG (2);Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.685062	0.15130	N	0.278865	T	0.34542	0.0901	N	0.10782	0.045	0.37808	D	0.927956	B	0.06786	0.001	B	0.13407	0.009	T	0.20174	-1.0283	10	0.02654	T	1	.	12.5459	0.56199	0.0:0.8364:0.1636:0.0	.	921	P51805	PLXA3_HUMAN	E	921	ENSP00000358696:D921E	ENSP00000358696:D921E	D	+	3	2	PLXNA3	153347771	0.998000	0.40836	1.000000	0.80357	0.521000	0.34408	0.530000	0.23036	2.204000	0.70986	0.597000	0.82753	GAC	PLXNA3	-	pfam_IPT_TIG_rcpt,superfamily_Ig_E-set,smart_IPT_TIG_rcpt		0.662	PLXNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLXNA3	HGNC	protein_coding	OTTHUMT00000081634.1	C	NM_017514		153694577	+1	no_errors	ENST00000369682	ensembl	human	known	70_37	missense	SNP	1.000	A
PLXNA3	55558	genome.wustl.edu	37	X	153697028	153697028	+	Missense_Mutation	SNP	A	A	G			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chrX:153697028A>G	ENST00000369682.3	+	24	4418	c.4243A>G	c.(4243-4245)Atg>Gtg	p.M1415V		NM_017514.3	NP_059984.3	P51805	PLXA3_HUMAN	plexin A3	1415					axon guidance (GO:0007411)|branchiomotor neuron axon guidance (GO:0021785)|facial nerve structural organization (GO:0021612)|hippocampus development (GO:0021766)|multicellular organismal development (GO:0007275)|negative chemotaxis (GO:0050919)|negative regulation of axon extension involved in axon guidance (GO:0048843)|positive regulation of cytoskeleton organization (GO:0051495)|pyramidal neuron development (GO:0021860)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|trigeminal nerve structural organization (GO:0021637)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)|transmembrane signaling receptor activity (GO:0004888)			breast(2)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	48	all_cancers(53;5.05e-16)|all_epithelial(53;1.87e-10)|all_lung(58;1.84e-07)|Lung NSC(58;5.84e-07)|all_hematologic(71;2.45e-06)|Acute lymphoblastic leukemia(192;6.56e-05)|Breast(217;0.176)					GGCTGAGAAGATGCTTACCAA	0.632																																																	0													112.0	89.0	97.0					X																	153697028		2203	4300	6503	SO:0001583	missense	55558			X74609	CCDS14752.1	Xq28	2008-02-05			ENSG00000130827	ENSG00000130827		"""Plexins"""	9101	protein-coding gene	gene with protein product		300022		PLXN4		8248200, 8733135	Standard	NM_017514		Approved	SEX, XAP-6, 6.3, Plxn3	uc004flm.3	P51805	OTTHUMG00000033290	ENST00000369682.3:c.4243A>G	X.37:g.153697028A>G	ENSP00000358696:p.Met1415Val	Somatic		WXS	Illumina HiSeq	Phase_IV	Q5HY36	Missense_Mutation	SNP	pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_Semaphorin/CD100_Ag,pfam_IPT_TIG_rcpt,pfam_Plexin_repeat,superfamily_Semaphorin/CD100_Ag,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,smart_IPT_TIG_rcpt,pfscan_Semaphorin/CD100_Ag	p.M1415V	ENST00000369682.3	37	c.4243	CCDS14752.1	X	.	.	.	.	.	.	.	.	.	.	A	18.76	3.692857	0.68271	.	.	ENSG00000130827	ENST00000369682	T	0.14144	2.53	5.17	5.17	0.71159	Plexin, cytoplasmic RasGAP domain (1);Rho GTPase activation protein (1);	0.000000	0.85682	D	0.000000	T	0.37679	0.1012	M	0.90977	3.165	0.80722	D	1	P	0.48016	0.904	P	0.52957	0.714	T	0.48222	-0.9054	10	0.87932	D	0	.	13.2133	0.59839	1.0:0.0:0.0:0.0	.	1415	P51805	PLXA3_HUMAN	V	1415	ENSP00000358696:M1415V	ENSP00000358696:M1415V	M	+	1	0	PLXNA3	153350222	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	6.243000	0.72384	1.830000	0.53286	0.483000	0.47432	ATG	PLXNA3	-	pfam_Plexin_cytoplasmic_RasGAP_dom,superfamily_Rho_GTPase_activation_prot		0.632	PLXNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLXNA3	HGNC	protein_coding	OTTHUMT00000081634.1	A	NM_017514		153697028	+1	no_errors	ENST00000369682	ensembl	human	known	70_37	missense	SNP	1.000	G
PLXNA4	91584	genome.wustl.edu	37	7	131872231	131872231	+	Splice_Site	SNP	T	T	C			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr7:131872231T>C	ENST00000359827.3	-	15	3954	c.2992A>G	c.(2992-2994)Agg>Ggg	p.R998G	PLXNA4_ENST00000321063.4_Splice_Site_p.R998G			Q9HCM2	PLXA4_HUMAN	plexin A4	998	IPT/TIG 2.				anterior commissure morphogenesis (GO:0021960)|axon guidance (GO:0007411)|chemorepulsion of branchiomotor axon (GO:0021793)|facial nerve structural organization (GO:0021612)|glossopharyngeal nerve morphogenesis (GO:0021615)|postganglionic parasympathetic nervous system development (GO:0021784)|regulation of axon extension involved in axon guidance (GO:0048841)|regulation of negative chemotaxis (GO:0050923)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|sympathetic nervous system development (GO:0048485)|trigeminal nerve structural organization (GO:0021637)|vagus nerve morphogenesis (GO:0021644)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)			NS(1)|breast(1)|endometrium(3)|kidney(4)|large_intestine(14)|lung(17)|ovary(1)|prostate(2)|skin(1)|stomach(1)	45						CTGAGTTACCTGTGGAAGAGA	0.532																																																	0													227.0	243.0	238.0					7																	131872231		2039	4203	6242	SO:0001630	splice_region_variant	91584			AB046770, AK123428	CCDS5826.1, CCDS43646.1, CCDS43647.1	7q32.3	2007-09-26	2007-09-26	2007-09-26	ENSG00000221866	ENSG00000221866		"""Plexins"""	9102	protein-coding gene	gene with protein product		604280	"""plexin A4, A"", ""plexin A4, B"""	PLXNA4A, PLXNA4B			Standard	NM_181775		Approved	KIAA1550, DKFZp434G0625PRO34003, FAYV2820	uc003vra.4	Q9HCM2	OTTHUMG00000155108	ENST00000359827.3:c.2993+1A>G	7.37:g.131872231T>C		Somatic		WXS	Illumina HiSeq	Phase_IV	A4D1N6|E9PAM2|Q6UWC6|Q6ZW89|Q8N969|Q8ND00|Q8NEN3|Q9NTD4	Missense_Mutation	SNP	pfam_Plexin_cytoplasmic_RasGAP_dom,pfam_Semaphorin/CD100_Ag,pfam_IPT_TIG_rcpt,pfam_Plexin_repeat,superfamily_Semaphorin/CD100_Ag,superfamily_Rho_GTPase_activation_prot,superfamily_Ig_E-set,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,smart_IPT_TIG_rcpt,pfscan_Semaphorin/CD100_Ag	p.R998G	ENST00000359827.3	37	c.2992	CCDS43646.1	7	.	.	.	.	.	.	.	.	.	.	T	14.64	2.595744	0.46318	.	.	ENSG00000221866	ENST00000321063;ENST00000359827	T;T	0.75938	-0.98;-0.98	5.54	5.54	0.83059	Cell surface receptor IPT/TIG (2);Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.043783	0.85682	D	0.000000	T	0.63510	0.2517	L	0.38733	1.17	0.58432	D	0.999999	B	0.10296	0.003	B	0.11329	0.006	T	0.58317	-0.7657	10	0.23302	T	0.38	.	11.4338	0.50056	0.1349:0.0:0.0:0.8651	.	998	Q9HCM2	PLXA4_HUMAN	G	998	ENSP00000323194:R998G;ENSP00000352882:R998G	ENSP00000323194:R998G	R	-	1	2	PLXNA4	131522771	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	2.515000	0.45512	2.114000	0.64651	0.454000	0.30748	AGG	PLXNA4	-	pfam_IPT_TIG_rcpt,superfamily_Ig_E-set,smart_IPT_TIG_rcpt		0.532	PLXNA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLXNA4	HGNC	protein_coding	OTTHUMT00000338422.2	T	NM_181775	Missense_Mutation	131872231	-1	no_errors	ENST00000321063	ensembl	human	known	70_37	missense	SNP	1.000	C
PNPLA6	10908	genome.wustl.edu	37	19	7619897	7619897	+	Missense_Mutation	SNP	G	G	A	rs560373686		TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr19:7619897G>A	ENST00000221249.6	+	25	3070	c.2639G>A	c.(2638-2640)tGc>tAc	p.C880Y	PNPLA6_ENST00000545201.2_Missense_Mutation_p.C853Y|PNPLA6_ENST00000450331.3_Missense_Mutation_p.C880Y|PNPLA6_ENST00000414982.3_Missense_Mutation_p.C928Y|PNPLA6_ENST00000600737.1_Missense_Mutation_p.C918Y	NM_006702.4	NP_006693.3	Q8IY17	PLPL6_HUMAN	patatin-like phospholipase domain containing 6	919					angiogenesis (GO:0001525)|cell death (GO:0008219)|lipid catabolic process (GO:0016042)|organ morphogenesis (GO:0009887)|phosphatidylcholine metabolic process (GO:0046470)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	lysophospholipase activity (GO:0004622)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)	35						CGCAGCTGGTGCTCGGGGCAC	0.701																																																	0													12.0	13.0	13.0					19																	7619897		2199	4290	6489	SO:0001583	missense	10908			AJ004832	CCDS32891.1, CCDS54206.1, CCDS54207.1, CCDS59343.1	19p13.2	2013-09-11						"""Patatin-like phospholipase domain containing"""	16268	protein-coding gene	gene with protein product	"""neuropathy target esterase"""	603197				9576844, 16799181, 19029121	Standard	NM_006702		Approved	NTE, sws, iPLA2delta, SPG39	uc010xjq.2	Q8IY17		ENST00000221249.6:c.2639G>A	19.37:g.7619897G>A	ENSP00000221249:p.Cys880Tyr	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NGQ0|B4DFB9|B7Z7T2|F5H5K9|J3KQS3|O60859|Q86W58|Q9UG58	Missense_Mutation	SNP	pfam_cNMP-bd_dom,pfam_Patatin/PLipase_A2-rel,superfamily_Acyl_Trfase/lysoPLipase,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom	p.C928Y	ENST00000221249.6	37	c.2783	CCDS32891.1	19	.	.	.	.	.	.	.	.	.	.	g	27.1	4.802590	0.90623	.	.	ENSG00000032444	ENST00000221249;ENST00000545201;ENST00000414982;ENST00000450331	T;T;T;T	0.25085	1.82;1.82;1.82;1.82	5.35	5.35	0.76521	.	0.096169	0.64402	D	0.000001	T	0.47637	0.1456	M	0.62209	1.925	0.58432	D	0.999999	D;D;D;P	0.58970	0.972;0.984;0.984;0.898	P;P;D;P	0.64042	0.786;0.847;0.921;0.543	T	0.45848	-0.9233	10	0.87932	D	0	.	16.613	0.84899	0.0:0.0:1.0:0.0	.	919;853;918;880	Q8IY17;F5H5K9;Q8IY17-3;Q8IY17-2	PLPL6_HUMAN;.;.;.	Y	880;853;928;880	ENSP00000221249:C880Y;ENSP00000443323:C853Y;ENSP00000407509:C928Y;ENSP00000394348:C880Y	ENSP00000221249:C880Y	C	+	2	0	PNPLA6	7525897	1.000000	0.71417	1.000000	0.80357	0.762000	0.43233	6.465000	0.73538	2.523000	0.85059	0.555000	0.69702	TGC	PNPLA6	-	NULL		0.701	PNPLA6-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	PNPLA6	HGNC	protein_coding	OTTHUMT00000459275.1	G	NM_006702		7619897	+1	no_errors	ENST00000414982	ensembl	human	known	70_37	missense	SNP	1.000	A
PNPLA7	375775	genome.wustl.edu	37	9	140396175	140396175	+	Missense_Mutation	SNP	G	G	A			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr9:140396175G>A	ENST00000277531.4	-	14	1589	c.1403C>T	c.(1402-1404)tCa>tTa	p.S468L	PNPLA7_ENST00000371457.1_Missense_Mutation_p.S74L|PNPLA7_ENST00000406427.1_Missense_Mutation_p.S493L	NM_152286.3	NP_689499.3	Q6ZV29	PLPL7_HUMAN	patatin-like phospholipase domain containing 7	468				FLHSDEHPGSSVASKSRKSVMVAEIPSTVSQHSESHTDETL ASRKSDAIFRAAKKDLLTLMKLEDSSLLDG -> LCLLPQC LGGLPPTDTSVYSSASSDCCGCSMPVLCIMGHKPHVTVDT (in Ref. 1; BAC86509). {ECO:0000305}.	lipid metabolic process (GO:0006629)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	lysophospholipase activity (GO:0004622)			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_cancers(76;0.126)			OV - Ovarian serous cystadenocarcinoma(145;0.000268)|Epithelial(140;0.000839)		CAACAGAGATGAGTCCTAAAA	0.612																																																	0													38.0	37.0	37.0					9																	140396175		2187	4285	6472	SO:0001583	missense	375775			AK126267	CCDS7045.1, CCDS48070.1	9q34.3	2009-01-12	2006-06-12	2006-06-12	ENSG00000130653	ENSG00000130653		"""Patatin-like phospholipase domain containing"""	24768	protein-coding gene	gene with protein product		612122	"""chromosome 9 open reading frame 111"""	C9orf111		16799181, 12640454, 19029121	Standard	XM_005266082		Approved	FLJ43070, FLJ31318, FLJ44279, RP11-48C7.2, NTEL1, NTE-R1	uc010ncj.1	Q6ZV29	OTTHUMG00000020990	ENST00000277531.4:c.1403C>T	9.37:g.140396175G>A	ENSP00000277531:p.Ser468Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	B5MDD3|Q5T364|Q658X0|Q658Y3|Q6ZTS1|Q86YU8|Q8TAY5|Q96N75|Q9H7N5	Missense_Mutation	SNP	pfam_cNMP-bd_dom,pfam_Patatin/PLipase_A2-rel,superfamily_Acyl_Trfase/lysoPLipase,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom	p.S493L	ENST00000277531.4	37	c.1478	CCDS7045.1	9	.	.	.	.	.	.	.	.	.	.	G	12.74	2.027712	0.35797	.	.	ENSG00000130653	ENST00000371457;ENST00000277531;ENST00000406427;ENST00000371451;ENST00000434090	T;T;T;T	0.71341	-0.56;0.25;0.25;0.26	5.2	5.2	0.72013	Cyclic nucleotide-binding-like (1);Cyclic nucleotide-binding domain (2);	0.230341	0.45867	D	0.000331	T	0.50257	0.1605	N	0.08118	0	0.80722	D	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.50021	-0.8876	10	0.52906	T	0.07	-3.6936	11.2303	0.48907	0.0838:0.0:0.9162:0.0	.	493;468	Q6ZV29-5;Q6ZV29	.;PLPL7_HUMAN	L	74;468;493;468;459	ENSP00000360512:S74L;ENSP00000277531:S468L;ENSP00000384610:S493L;ENSP00000400582:S459L	ENSP00000277531:S468L	S	-	2	0	PNPLA7	139515996	1.000000	0.71417	0.226000	0.23910	0.073000	0.16967	6.673000	0.74482	2.408000	0.81797	0.544000	0.68410	TCA	PNPLA7	-	superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom		0.612	PNPLA7-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	PNPLA7	HGNC	protein_coding	OTTHUMT00000254787.1	G	NM_152286		140396175	-1	no_errors	ENST00000406427	ensembl	human	known	70_37	missense	SNP	0.981	A
POGZ	23126	genome.wustl.edu	37	1	151400770	151400770	+	Missense_Mutation	SNP	C	C	T			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr1:151400770C>T	ENST00000271715.2	-	6	1002	c.688G>A	c.(688-690)Gtc>Atc	p.V230I	POGZ_ENST00000409503.1_Missense_Mutation_p.V230I|POGZ_ENST00000361398.3_Missense_Mutation_p.V177I|POGZ_ENST00000491586.1_Missense_Mutation_p.V177I|POGZ_ENST00000540984.1_Intron|POGZ_ENST00000368863.2_Missense_Mutation_p.V135I|POGZ_ENST00000531094.1_Missense_Mutation_p.V177I|POGZ_ENST00000392723.1_Missense_Mutation_p.V177I	NM_001194937.1|NM_015100.3	NP_001181866.1|NP_055915.2	Q7Z3K3	POGZ_HUMAN	pogo transposable element with ZNF domain	230					kinetochore assembly (GO:0051382)|mitotic sister chromatid cohesion (GO:0007064)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.V230I(1)		NS(1)|breast(1)|endometrium(10)|kidney(3)|large_intestine(10)|liver(2)|lung(11)|ovary(3)|prostate(2)|skin(3)|urinary_tract(1)	47	Lung SC(34;0.00471)|Ovarian(49;0.00672)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			GCCGGGATGACGGTGGTGAAG	0.587																																																	1	Substitution - Missense(1)	large_intestine(1)											278.0	267.0	271.0					1																	151400770		2203	4300	6503	SO:0001583	missense	23126			AB007930	CCDS997.1, CCDS998.1, CCDS44222.1, CCDS44222.2, CCDS53365.1, CCDS53366.1	1q21.1	2013-07-22			ENSG00000143442	ENSG00000143442			18801	protein-coding gene	gene with protein product	"""zinc finger protein 280E"", ""putative protein product of Nbla00003"""	614787				10976766	Standard	NM_015100		Approved	KIAA0461, ZNF635m, ZNF280E	uc001eyd.2	Q7Z3K3	OTTHUMG00000012499	ENST00000271715.2:c.688G>A	1.37:g.151400770C>T	ENSP00000271715:p.Val230Ile	Somatic		WXS	Illumina HiSeq	Phase_IV	B4DTP8|B4DYL9|B7ZBY5|E9PM80|O75049|Q3LIC4|Q5SZS1|Q5SZS2|Q5SZS3|Q5SZS4|Q8TDZ7|Q9Y4X7	Missense_Mutation	SNP	pfam_DDE_SF_endonuclease_CENPB-like,pfam_HTH_CenpB_DNA-bd_dom,superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_HTH_CenpB_DNA-bd_dom,pfscan_Znf_C2H2	p.V230I	ENST00000271715.2	37	c.688	CCDS997.1	1	.	.	.	.	.	.	.	.	.	.	C	23.3	4.395206	0.83011	.	.	ENSG00000143442	ENST00000392723;ENST00000271715;ENST00000361398;ENST00000368863;ENST00000409503;ENST00000531094;ENST00000491586;ENST00000437847	D;D;D;D;D;D;D	0.81499	-1.5;-1.5;-1.5;-1.5;-1.5;-1.5;-1.5	5.04	5.04	0.67666	.	0.000000	0.64402	D	0.000009	T	0.79822	0.4512	N	0.19112	0.55	0.80722	D	1	D;D;D;D;D;D;D	0.76494	0.999;0.968;0.999;0.994;0.992;0.981;0.999	D;P;D;D;D;D;D	0.76071	0.972;0.854;0.987;0.965;0.952;0.931;0.972	D	0.83611	0.0134	10	0.72032	D	0.01	-17.3938	17.1134	0.86682	0.0:1.0:0.0:0.0	.	177;230;135;230;177;177;230	E9PM80;B7ZBY5;Q7Z3K3-5;Q7Z3K3-4;Q7Z3K3-3;Q7Z3K3-2;Q7Z3K3	.;.;.;.;.;.;POGZ_HUMAN	I	177;230;177;135;230;177;177;230	ENSP00000376484:V177I;ENSP00000271715:V230I;ENSP00000354467:V177I;ENSP00000357856:V135I;ENSP00000386836:V230I;ENSP00000431259:V177I;ENSP00000418408:V177I	ENSP00000271715:V230I	V	-	1	0	POGZ	149667394	1.000000	0.71417	0.997000	0.53966	0.982000	0.71751	3.878000	0.56130	2.615000	0.88500	0.467000	0.42956	GTC	POGZ	-	NULL		0.587	POGZ-001	KNOWN	basic|CCDS	protein_coding	POGZ	HGNC	protein_coding	OTTHUMT00000034915.2	C	NM_207171		151400770	-1	no_errors	ENST00000271715	ensembl	human	known	70_37	missense	SNP	0.998	T
POLA1	5422	genome.wustl.edu	37	X	24859948	24859948	+	Splice_Site	SNP	G	G	C			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chrX:24859948G>C	ENST00000379059.3	+	33	3912		c.e33+1		POLA1_ENST00000379068.3_Splice_Site	NM_016937.3	NP_058633.2	P09884	DPOLA_HUMAN	polymerase (DNA directed), alpha 1, catalytic subunit						cell proliferation (GO:0008283)|DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA replication, synthesis of RNA primer (GO:0006269)|DNA strand elongation involved in DNA replication (GO:0006271)|double-strand break repair via nonhomologous end joining (GO:0006303)|G1/S transition of mitotic cell cycle (GO:0000082)|lagging strand elongation (GO:0006273)|leading strand elongation (GO:0006272)|mitotic cell cycle (GO:0000278)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|translesion synthesis (GO:0019985)|viral process (GO:0016032)	alpha DNA polymerase:primase complex (GO:0005658)|cytoplasm (GO:0005737)|nuclear envelope (GO:0005635)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	3'-5' exonuclease activity (GO:0008408)|4 iron, 4 sulfur cluster binding (GO:0051539)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)|nucleoside binding (GO:0001882)|nucleotide binding (GO:0000166)|protein kinase binding (GO:0019901)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|ovary(2)|skin(2)	11					Cladribine(DB00242)|Clofarabine(DB00631)|Fludarabine(DB01073)|Nelarabine(DB01280)	TGATGGTTCGGTTAGTTGTTT	0.398																																																	0													241.0	214.0	223.0					X																	24859948		2203	4300	6503	SO:0001630	splice_region_variant	5422				CCDS14214.1	Xp22.1-p21.3	2014-01-30	2008-08-07	2006-09-26	ENSG00000101868	ENSG00000101868	2.7.7.7	"""DNA polymerases"""	9173	protein-coding gene	gene with protein product		312040	"""polymerase (DNA directed), alpha"", ""polymerase (DNA directed), alpha 1"", ""N syndrome (mental retardation, malformations, chromosome breakage)"""	POLA, NSX		1689958	Standard	NM_016937		Approved	p180	uc004dbl.3	P09884	OTTHUMG00000021277	ENST00000379059.3:c.3897+1G>C	X.37:g.24859948G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	Q86UQ7	Splice_Site	SNP	-	e33+1	ENST00000379059.3	37	c.3915+1	CCDS14214.1	X	.	.	.	.	.	.	.	.	.	.	G	16.56	3.156652	0.57259	.	.	ENSG00000101868	ENST00000379068;ENST00000379059	.	.	.	5.16	5.16	0.70880	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.0199	0.89252	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	POLA1	24769869	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	8.585000	0.90802	2.277000	0.76020	0.538000	0.68166	.	POLA1	-	-		0.398	POLA1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	POLA1	HGNC	protein_coding	OTTHUMT00000056111.1	G	NM_016937	Intron	24859948	+1	no_errors	ENST00000379068	ensembl	human	known	70_37	splice_site	SNP	1.000	C
POLD1	5424	genome.wustl.edu	37	19	50910593	50910593	+	Missense_Mutation	SNP	G	G	A	rs372429157		TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr19:50910593G>A	ENST00000440232.2	+	14	1749	c.1696G>A	c.(1696-1698)Gag>Aag	p.E566K	POLD1_ENST00000599857.1_Missense_Mutation_p.E566K|POLD1_ENST00000595904.1_Missense_Mutation_p.E566K	NM_001256849.1|NM_002691.3	NP_001243778.1|NP_002682.2	P28340	DPOD1_HUMAN	polymerase (DNA directed), delta 1, catalytic subunit	566					base-excision repair (GO:0006284)|base-excision repair, gap-filling (GO:0006287)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication proofreading (GO:0045004)|DNA replication, removal of RNA primer (GO:0043137)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA synthesis involved in DNA repair (GO:0000731)|fatty acid homeostasis (GO:0055089)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|regulation of mitotic cell cycle (GO:0007346)|response to UV (GO:0009411)|small molecule metabolic process (GO:0044281)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|delta DNA polymerase complex (GO:0043625)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleotide-excision repair complex (GO:0000109)|nucleus (GO:0005634)	3'-5' exonuclease activity (GO:0008408)|4 iron, 4 sulfur cluster binding (GO:0051539)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(6)|lung(8)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		all_neural(266;0.0571)		OV - Ovarian serous cystadenocarcinoma(262;0.00794)|GBM - Glioblastoma multiforme(134;0.0195)		GGCCATGCACGAGGGGCTGCT	0.632								DNA polymerases (catalytic subunits)																																									0								G	LYS/GLU	0,4404		0,0,2202	39.0	30.0	33.0		1696	-0.3	0.9	19		33	1,8599	1.2+/-3.3	0,1,4299	no	missense	POLD1	NM_002691.2	56	0,1,6501	AA,AG,GG		0.0116,0.0,0.0077	benign	566/1108	50910593	1,13003	2202	4300	6502	SO:0001583	missense	5424				CCDS12795.1	19q13.3	2014-09-17	2012-05-18		ENSG00000062822	ENSG00000062822		"""DNA polymerases"""	9175	protein-coding gene	gene with protein product	"""CDC2 homolog (S. cerevisiae)"""	174761	"""polymerase (DNA directed), delta 1, catalytic subunit (125kD)"""	POLD		1722322	Standard	NM_001256849		Approved	CDC2	uc002psc.5	P28340		ENST00000440232.2:c.1696G>A	19.37:g.50910593G>A	ENSP00000406046:p.Glu566Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q8NER3|Q96H98	Missense_Mutation	SNP	pfam_DNA-dir_DNA_pol_B_multi_dom,pfam_DNA-dir_DNA_pol_B_exonuc,superfamily_RNaseH-like_dom,smart_DNA-dir_DNA_pol_B,prints_DNA-dir_DNA_pol_B,tigrfam_DNA-dir_DNA_pol_B_pol2	p.E566K	ENST00000440232.2	37	c.1696	CCDS12795.1	19	.	.	.	.	.	.	.	.	.	.	G	4.588	0.109340	0.08780	0.0	1.16E-4	ENSG00000062822	ENST00000440232;ENST00000376930	T	0.17854	2.25	3.92	-0.33	0.12683	DNA-directed DNA polymerase, family B, multifunctional domain (1);	0.481200	0.21336	N	0.076216	T	0.06280	0.0162	N	0.02751	-0.505	0.32500	N	0.539035	B;B	0.10296	0.003;0.001	B;B	0.13407	0.009;0.004	T	0.40850	-0.9541	10	0.02654	T	1	-17.1813	16.6191	0.84925	0.0:0.8061:0.1939:0.0	.	566;566	E7EVW0;P28340	.;DPOD1_HUMAN	K	566;567	ENSP00000406046:E566K	ENSP00000366129:E567K	E	+	1	0	POLD1	55602405	0.815000	0.29118	0.892000	0.35008	0.581000	0.36288	0.979000	0.29500	0.040000	0.15660	0.462000	0.41574	GAG	POLD1	-	pfam_DNA-dir_DNA_pol_B_multi_dom,smart_DNA-dir_DNA_pol_B		0.632	POLD1-002	KNOWN	alternative_5_UTR|NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	POLD1	HGNC	protein_coding	OTTHUMT00000464732.1	G			50910593	+1	no_errors	ENST00000440232	ensembl	human	known	70_37	missense	SNP	0.995	A
POLQ	10721	genome.wustl.edu	37	3	121206926	121206927	+	Frame_Shift_Ins	INS	-	-	T			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr3:121206926_121206927insT	ENST00000264233.5	-	16	4979_4980	c.4851_4852insA	c.(4849-4854)aaatcafs	p.S1618fs		NM_199420.3	NP_955452.3	O75417	DPOLQ_HUMAN	polymerase (DNA directed), theta	1618					ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)	nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|damaged DNA binding (GO:0003684)|DNA-directed DNA polymerase activity (GO:0003887)|single-stranded DNA-dependent ATPase activity (GO:0043142)			NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120				GBM - Glioblastoma multiforme(114;0.0915)		GTTAATTTTGATTTTTCAGCCC	0.406								DNA polymerases (catalytic subunits)																													Pancreas(152;907 1925 26081 31236 36904)												0																																										SO:0001589	frameshift_variant	10721			AF052573	CCDS33833.1	3q13.3	2012-05-18			ENSG00000051341	ENSG00000051341	2.7.7.7	"""DNA polymerases"""	9186	protein-coding gene	gene with protein product		604419				10395804	Standard	NM_199420		Approved	POLH	uc003eee.4	O75417	OTTHUMG00000159396	ENST00000264233.5:c.4852dupA	3.37:g.121206931_121206931dupT	ENSP00000264233:p.Ser1618fs	Somatic		WXS	Illumina HiSeq	Phase_IV	O95160|Q6VMB5	Frame_Shift_Ins	INS	pfam_DNA-dir_DNA_pol_A_palm_dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,pfam_Helicase_C,superfamily_RNaseH-like_dom,smart_Helicase_ATP-bd,smart_Helicase_C,smart_DNA-dir_DNA_pol_A_palm_dom,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,prints_DNA_polymerase_A	p.S1617fs	ENST00000264233.5	37	c.4852_4851	CCDS33833.1	3																																																																																			POLQ	-	NULL		0.406	POLQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POLQ	HGNC	protein_coding	OTTHUMT00000355097.1	-	NM_199420		121206927	-1	no_errors	ENST00000264233	ensembl	human	known	70_37	frame_shift_ins	INS	0.000:0.000	T
POM121L12	285877	genome.wustl.edu	37	7	53103854	53103854	+	Missense_Mutation	SNP	C	C	T			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr7:53103854C>T	ENST00000408890.4	+	1	506	c.490C>T	c.(490-492)Ccc>Tcc	p.P164S		NM_182595.3	NP_872401.3	Q8N7R1	P1L12_HUMAN	POM121 transmembrane nucleoporin-like 12	164										endometrium(5)|kidney(1)|large_intestine(5)|lung(44)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)	61						cgcaggccgccccgccgcccA	0.726																																																	0													12.0	15.0	14.0					7																	53103854		1826	4031	5857	SO:0001583	missense	285877				CCDS43584.1	7p12.1	2012-03-13	2012-03-13		ENSG00000221900	ENSG00000221900			25369	protein-coding gene	gene with protein product			"""POM121 membrane glycoprotein-like 12"""				Standard	NM_182595		Approved	DKFZp564N2472	uc003tpz.3	Q8N7R1	OTTHUMG00000155995	ENST00000408890.4:c.490C>T	7.37:g.53103854C>T	ENSP00000386133:p.Pro164Ser	Somatic		WXS	Illumina HiSeq	Phase_IV	Q8NDI9	Missense_Mutation	SNP	NULL	p.P164S	ENST00000408890.4	37	c.490	CCDS43584.1	7	.	.	.	.	.	.	.	.	.	.	C	0.009	-1.843361	0.00568	.	.	ENSG00000221900	ENST00000408890	T	0.20881	2.04	2.48	-1.76	0.08006	.	.	.	.	.	T	0.04137	0.0115	N	0.00960	-1.095	0.09310	N	1	P	0.34587	0.458	B	0.36418	0.224	T	0.18713	-1.0328	9	0.02654	T	1	.	0.3877	0.00405	0.2028:0.3312:0.1993:0.2667	.	164	Q8N7R1	P1L12_HUMAN	S	164	ENSP00000386133:P164S	ENSP00000386133:P164S	P	+	1	0	POM121L12	53071348	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.321000	0.08018	-0.486000	0.06744	-0.142000	0.14014	CCC	POM121L12	-	NULL		0.726	POM121L12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POM121L12	HGNC	protein_coding	OTTHUMT00000342656.1	C	NM_182595		53103854	+1	no_errors	ENST00000408890	ensembl	human	known	70_37	missense	SNP	0.000	T
POM121L1P	25812	genome.wustl.edu	37	22	22985454	22985454	+	RNA	SNP	C	C	T			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr22:22985454C>T	ENST00000402027.1	-	0	1490					NR_024591.1		Q3SYA9	P12L1_HUMAN	POM121 transmembrane nucleoporin-like 1, pseudogene																		AGCAGAAGTGCCACGCCTTGT	0.612																																																	0																																												25812					22q11.22	2013-10-11	2012-03-13	2009-01-15	ENSG00000183169	ENSG00000183169			16439	pseudogene	pseudogene	"""POM121-like 2"""		"""POM121 membrane glycoprotein-like 1 (rat)"", ""POM121 membrane glycoprotein-like 1, pseudogene"""	POM121L1		9074928	Standard	NR_024591		Approved		uc011ait.1	Q3SYA9	OTTHUMG00000151169		22.37:g.22985454C>T		Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	NULL	p.G368D	ENST00000402027.1	37	c.1103		22	.	.	.	.	.	.	.	.	.	.	C	10.51	1.369094	0.24771	.	.	ENSG00000183169	ENST00000402027	.	.	.	.	.	.	.	.	.	.	.	T	0.19248	0.0462	.	.	.	0.24630	N	0.993621	.	.	.	.	.	.	T	0.30851	-0.9964	3	0.15499	T	0.54	.	.	.	.	.	.	.	.	D	368	.	ENSP00000385643:G368D	G	-	2	0	POM121L1P	21315454	0.797000	0.28877	0.000000	0.03702	0.000000	0.00434	-0.785000	0.04628	0.000000	0.14550	0.000000	0.15137	GGC	POM121L1P	-	NULL		0.612	POM121L1P-002	KNOWN	basic|exp_conf	processed_transcript	POM121L1P	HGNC	pseudogene	OTTHUMT00000468457.1	C	NR_024591		22985454	-1	no_errors	ENST00000402027	ensembl	human	putative	70_37	missense	SNP	0.995	T
POU5F1B	5462	genome.wustl.edu	37	8	128428403	128428403	+	Missense_Mutation	SNP	G	G	A	rs569344346	byFrequency	TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr8:128428403G>A	ENST00000465342.2	+	2	1449	c.292G>A	c.(292-294)Gaa>Aaa	p.E98K	CASC8_ENST00000501396.1_RNA|CASC8_ENST00000523825.1_RNA|POU5F1B_ENST00000391675.1_Missense_Mutation_p.E98K|CASC8_ENST00000502082.1_RNA			Q06416	P5F1B_HUMAN	POU class 5 homeobox 1B	98					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			lung(1)|prostate(1)|urinary_tract(1)	3						GCCTGAGAGCGAAGCAGGAGT	0.642													g|||	2	0.000399361	0.0	0.0	5008	,	,		16230	0.0		0.0	False		,,,				2504	0.002																0													3.0	4.0	4.0					8																	128428403		669	1534	2203	SO:0001583	missense	5462			AF268615	CCDS55274.1	8q24.21	2011-06-20	2009-04-15	2009-04-15	ENSG00000212993	ENSG00000212993		"""Homeoboxes / POU class"""	9223	protein-coding gene	gene with protein product		615739	"""POU domain class 5, transcription factor 1 pseudogene 1"", ""POU class 5 homeobox 1 pseudogene 1"""	OTF3P1, POU5F1P1		1408763	Standard	NM_001159542		Approved	OTF3C	uc003ysf.3	Q06416	OTTHUMG00000157807	ENST00000465342.2:c.292G>A	8.37:g.128428403G>A	ENSP00000419298:p.Glu98Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	D5K9S4|D5K9S9|D5K9T0|D5K9T1|D5K9T3|D5K9U3|D5K9U6|D5K9V4|D5K9V6|D5K9W0|D5K9W2|D5K9W7|D5K9X2|D5K9X3|D5K9X5|D5K9X8|D5K9X9|E9LRB1|E9LRB2|E9LRH5|E9LRH6|E9LRH7|E9LRK4|E9LRK5|E9LRK7|E9LRK8|E9LRM7|E9LRM9|E9LRN2|E9LRN4|E9LRN5|E9LRP8|E9LRQ0|E9LRQ2|E9LRQ3|E9LRQ4|E9LRQ5|E9LRS3|Q2VIK6|Q9BZV7|Q9BZV9	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.E98K	ENST00000465342.2	37	c.292	CCDS55274.1	8	.	.	.	.	.	.	.	.	.	.	G	10.97	1.500207	0.26861	.	.	ENSG00000212993	ENST00000465342;ENST00000391675	T;T	0.54071	0.59;0.59	1.19	-2.12	0.07165	.	0.176829	0.27358	N	0.019735	T	0.34571	0.0902	L	0.58101	1.795	0.09310	N	1	P	0.36974	0.576	B	0.25759	0.063	T	0.15867	-1.0422	10	0.41790	T	0.15	.	4.9927	0.14222	0.4113:0.0:0.5887:0.0	.	98	Q06416	P5F1B_HUMAN	K	98	ENSP00000419298:E98K;ENSP00000375557:E98K	ENSP00000375557:E98K	E	+	1	0	POU5F1B	128497585	0.000000	0.05858	0.000000	0.03702	0.112000	0.19704	-1.120000	0.03273	-0.655000	0.05387	0.121000	0.15741	GAA	POU5F1B	-	NULL		0.642	POU5F1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POU5F1B	HGNC	protein_coding	OTTHUMT00000349649.2	G	NM_001159542		128428403	+1	no_errors	ENST00000391675	ensembl	human	known	70_37	missense	SNP	0.000	A
PPFIA3	8541	genome.wustl.edu	37	19	49632669	49632669	+	Silent	SNP	C	C	T			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr19:49632669C>T	ENST00000334186.4	+	5	889	c.540C>T	c.(538-540)cgC>cgT	p.R180R	PPFIA3_ENST00000602351.1_Silent_p.R180R	NM_003660.2	NP_003651.1	O75145	LIPA3_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 3	180					cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|presynaptic active zone (GO:0048786)				NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(16)|pancreas(1)|prostate(1)|skin(4)|urinary_tract(1)	35		all_lung(116;3.16e-06)|Lung NSC(112;6.25e-06)|all_neural(266;0.0189)|Ovarian(192;0.0392)		all cancers(93;2.36e-05)|OV - Ovarian serous cystadenocarcinoma(262;0.000203)|GBM - Glioblastoma multiforme(486;0.00307)|Epithelial(262;0.00677)		CGCTGGAGCGCGTGGCAGTGC	0.632																																																	0													13.0	14.0	14.0					19																	49632669		2117	4151	6268	SO:0001819	synonymous_variant	8541			AF034800	CCDS12758.1	19q13.33	2013-09-23			ENSG00000177380	ENSG00000177380		"""Sterile alpha motif (SAM) domain containing"""	9247	protein-coding gene	gene with protein product	"""protein tyrosine phosphatase, receptor type, f polypeptide, alpha 3"", ""liprin-alpha 3"", ""liprin"""	603144				9624153, 9734811	Standard	NM_003660		Approved	KIAA0654, LPNA3, MGC126567, MGC126569	uc002pmr.3	O75145	OTTHUMG00000183213	ENST00000334186.4:c.540C>T	19.37:g.49632669C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A8K142|Q3MJA0|Q9H8B5|Q9UEW4	Silent	SNP	pfam_SAM_2,pfam_SAM_type1,superfamily_SAM/pointed,smart_SAM,pfscan_SAM	p.R180	ENST00000334186.4	37	c.540	CCDS12758.1	19																																																																																			PPFIA3	-	NULL		0.632	PPFIA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPFIA3	HGNC	protein_coding	OTTHUMT00000465688.1	C	NM_003660		49632669	+1	no_errors	ENST00000334186	ensembl	human	known	70_37	silent	SNP	0.699	T
PPIL3	53938	genome.wustl.edu	37	2	201753716	201753716	+	5'UTR	SNP	A	A	C			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr2:201753716A>C	ENST00000392283.4	-	0	161				NIF3L1_ENST00000416651.1_5'Flank|NIF3L1_ENST00000409588.1_5'Flank|NIF3L1_ENST00000409357.1_5'Flank|PPIL3_ENST00000409449.1_Intron|NIF3L1_ENST00000409020.1_5'Flank|PPIL3_ENST00000465823.1_5'UTR|PPIL3_ENST00000409361.1_5'UTR|PPIL3_ENST00000286175.8_5'UTR|NIF3L1_ENST00000359683.4_5'Flank	NM_130906.2	NP_570981.1	Q9H2H8	PPIL3_HUMAN	peptidylprolyl isomerase (cyclophilin)-like 3						mRNA splicing, via spliceosome (GO:0000398)|protein folding (GO:0006457)	catalytic step 2 spliceosome (GO:0071013)	peptidyl-prolyl cis-trans isomerase activity (GO:0003755)			endometrium(1)|lung(2)	3						GCCGTTGTTAAAACAGGAAAA	0.458																																																	0																																										SO:0001623	5_prime_UTR_variant	53938			AF251049	CCDS2332.1, CCDS2333.1	2q33.1	2008-02-05			ENSG00000240344	ENSG00000240344			9262	protein-coding gene	gene with protein product	"""Cyclophilin J"""	615811				11435694	Standard	NM_032472		Approved	CyPJ	uc002uwi.3	Q9H2H8	OTTHUMG00000132782	ENST00000392283.4:c.-108T>G	2.37:g.201753716A>C		Somatic		WXS	Illumina HiSeq	Phase_IV	Q86WF9|Q96IA9|Q9BXZ1	Missense_Mutation	SNP	pfam_Cyclophilin-like_PPIase_dom,superfamily_Cyclophilin-like_PPIase_dom,pfscan_Cyclophilin-like_PPIase_dom,prints_Cyclophilin-like_PPIase_dom	p.F8C	ENST00000392283.4	37	c.23	CCDS2333.1	2	.	.	.	.	.	.	.	.	.	.	A	15.22	2.769103	0.49680	.	.	ENSG00000240344	ENST00000409264	T	0.23552	1.9	3.4	-1.28	0.09318	.	.	.	.	.	T	0.16041	0.0386	.	.	.	0.09310	N	0.999995	.	.	.	.	.	.	T	0.29366	-1.0014	6	0.41790	T	0.15	.	0.2563	0.00212	0.3976:0.2089:0.1908:0.2026	.	.	.	.	C	8	ENSP00000386893:F8C	ENSP00000386893:F8C	F	-	2	0	PPIL3	201461961	0.000000	0.05858	0.000000	0.03702	0.273000	0.26683	0.191000	0.17076	-0.221000	0.09973	0.533000	0.62120	TTT	PPIL3	-	NULL		0.458	PPIL3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PPIL3	HGNC	protein_coding	OTTHUMT00000256190.3	A			201753716	-1	no_errors	ENST00000409264	ensembl	human	putative	70_37	missense	SNP	0.000	C
PPIP5K2	23262	genome.wustl.edu	37	5	102484962	102484962	+	Missense_Mutation	SNP	T	T	G			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr5:102484962T>G	ENST00000358359.3	+	8	1360	c.851T>G	c.(850-852)gTt>gGt	p.V284G	PPIP5K2_ENST00000513500.1_3'UTR|PPIP5K2_ENST00000321521.9_Missense_Mutation_p.V284G|PPIP5K2_ENST00000414217.1_Missense_Mutation_p.V284G	NM_001276277.1	NP_001263206.1	O43314	VIP2_HUMAN	diphosphoinositol pentakisphosphate kinase 2	284					inositol metabolic process (GO:0006020)|inositol phosphate metabolic process (GO:0043647)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	acid phosphatase activity (GO:0003993)|ATP binding (GO:0005524)|diphosphoinositol-pentakisphosphate kinase activity (GO:0033857)|inositol hexakisphosphate 1-kinase activity (GO:0052723)|inositol hexakisphosphate 3-kinase activity (GO:0052724)|inositol hexakisphosphate 5-kinase activity (GO:0000832)|inositol-1,3,4,5,6-pentakisphosphate kinase activity (GO:0000827)			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	42						AGATACCCTGTTATTCTCAAT	0.408																																																	0													112.0	111.0	111.0					5																	102484962		2203	4300	6503	SO:0001583	missense	23262			AB007893	CCDS34207.1, CCDS64212.1, CCDS75283.1	5q21.1	2014-05-06	2010-01-26	2010-01-26	ENSG00000145725	ENSG00000145725	2.7.4.24		29035	protein-coding gene	gene with protein product		611648	"""histidine acid phosphatase domain containing 1"""	HISPPD1		9455477, 17690096, 18981179	Standard	NM_001276277		Approved	KIAA0433, VIP2	uc003koe.4	O43314	OTTHUMG00000181461	ENST00000358359.3:c.851T>G	5.37:g.102484962T>G	ENSP00000351126:p.Val284Gly	Somatic		WXS	Illumina HiSeq	Phase_IV	A1NI53|A6NGS8|Q8TB50	Missense_Mutation	SNP	pfam_His_Pase_superF_clade-2	p.V284G	ENST00000358359.3	37	c.851		5	.	.	.	.	.	.	.	.	.	.	T	25.3	4.628187	0.87560	.	.	ENSG00000145725	ENST00000321521;ENST00000507921;ENST00000358359;ENST00000451606;ENST00000414217	T;T;T;T	0.22539	1.97;3.1;1.95;1.97	5.05	5.05	0.67936	.	0.000000	0.64402	D	0.000004	T	0.53222	0.1783	M	0.88450	2.955	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.996;0.98	T	0.63611	-0.6598	10	0.87932	D	0	.	15.0719	0.72042	0.0:0.0:0.0:1.0	.	206;284;284	D6RBU4;O43314-2;O43314	.;.;VIP2_HUMAN	G	284;206;284;284;284	ENSP00000313070:V284G;ENSP00000422525:V206G;ENSP00000351126:V284G;ENSP00000416016:V284G	ENSP00000313070:V284G	V	+	2	0	PPIP5K2	102512861	1.000000	0.71417	0.951000	0.38953	0.962000	0.63368	7.993000	0.88291	2.015000	0.59207	0.533000	0.62120	GTT	PPIP5K2	-	NULL		0.408	PPIP5K2-003	KNOWN	basic	protein_coding	PPIP5K2	HGNC	protein_coding	OTTHUMT00000370487.1	T	NM_015216		102484962	+1	no_errors	ENST00000358359	ensembl	human	known	70_37	missense	SNP	1.000	G
PPL	5493	genome.wustl.edu	37	16	4942154	4942154	+	Missense_Mutation	SNP	C	C	T	rs138181414		TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr16:4942154C>T	ENST00000345988.2	-	15	1800	c.1711G>A	c.(1711-1713)Gaa>Aaa	p.E571K	PPL_ENST00000590782.2_Missense_Mutation_p.E569K	NM_002705.4	NP_002696	O60437	PEPL_HUMAN	periplakin	571					keratinization (GO:0031424)	cell junction (GO:0030054)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	structural constituent of cytoskeleton (GO:0005200)			breast(6)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(12)|lung(12)|ovary(4)|prostate(5)|skin(3)|stomach(1)|urinary_tract(2)	62						ATGAAGGCTTCGCCCTCAGCC	0.622													C|||	1	0.000199681	0.0008	0.0	5008	,	,		17983	0.0		0.0	False		,,,				2504	0.0																0								C	LYS/GLU	9,4385	15.5+/-35.6	0,9,2188	62.0	58.0	60.0		1711	3.4	0.2	16	dbSNP_134	60	0,8600		0,0,4300	yes	missense	PPL	NM_002705.4	56	0,9,6488	TT,TC,CC		0.0,0.2048,0.0693	benign	571/1757	4942154	9,12985	2197	4300	6497	SO:0001583	missense	5493			AF013717	CCDS10526.1	16p13.3	2008-02-05			ENSG00000118898	ENSG00000118898			9273	protein-coding gene	gene with protein product		602871				9570964, 9521878	Standard	NM_002705		Approved		uc002cyd.1	O60437	OTTHUMG00000129528	ENST00000345988.2:c.1711G>A	16.37:g.4942154C>T	ENSP00000340510:p.Glu571Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	O60314|O60454|Q14C98	Missense_Mutation	SNP	pfam_Plectin_repeat,smart_Spectrin/alpha-actinin,smart_Plectin_repeat	p.E571K	ENST00000345988.2	37	c.1711	CCDS10526.1	16	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	C	11.84	1.758281	0.31137	0.002048	0.0	ENSG00000118898	ENST00000345988	T	0.25912	1.77	5.35	3.4	0.38934	.	0.379769	0.26646	N	0.023233	T	0.21509	0.0518	L	0.54323	1.7	0.41574	D	0.9887	P	0.42161	0.772	B	0.32583	0.148	T	0.04522	-1.0945	10	0.87932	D	0	.	11.2171	0.48833	0.0:0.8031:0.1275:0.0694	.	571	O60437	PEPL_HUMAN	K	571	ENSP00000340510:E571K	ENSP00000340510:E571K	E	-	1	0	PPL	4882155	0.968000	0.33430	0.250000	0.24296	0.102000	0.19082	1.873000	0.39558	0.640000	0.30582	-0.272000	0.10252	GAA	PPL	-	smart_Spectrin/alpha-actinin		0.622	PPL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PPL	HGNC	protein_coding	OTTHUMT00000251715.1	C	NM_002705		4942154	-1	no_errors	ENST00000345988	ensembl	human	known	70_37	missense	SNP	0.976	T
PPM1D	8493	genome.wustl.edu	37	17	58740887	58740887	+	Missense_Mutation	SNP	C	C	A			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr17:58740887C>A	ENST00000305921.3	+	6	2024	c.1792C>A	c.(1792-1794)Cac>Aac	p.H598N	RNU6-623P_ENST00000363143.1_RNA	NM_003620.3	NP_003611.1	O15297	PPM1D_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1D	598					G2/M transition of mitotic cell cycle (GO:0000086)|negative regulation of cell proliferation (GO:0008285)|peptidyl-threonine dephosphorylation (GO:0035970)|protein dephosphorylation (GO:0006470)|response to bacterium (GO:0009617)|response to radiation (GO:0009314)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|protein serine/threonine phosphatase activity (GO:0004722)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	15	all_neural(34;0.0878)|Medulloblastoma(34;0.0922)		Epithelial(12;6.75e-12)|all cancers(12;1.96e-10)			ACTTCATCAACACAGGAAAAC	0.413																																																	0													70.0	72.0	71.0					17																	58740887		2203	4300	6503	SO:0001583	missense	8493			U78305	CCDS11625.1	17q23.3	2014-09-17	2010-03-05		ENSG00000170836	ENSG00000170836		"""Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"""	9277	protein-coding gene	gene with protein product	"""wild-type p53-induced phosphatase 1"", ""protein phosphatase 2C, delta isoform"""	605100	"""protein phosphatase 1D magnesium-dependent, delta isoform"""			9177166	Standard	NM_003620		Approved	Wip1, PP2C-DELTA	uc002iyt.2	O15297		ENST00000305921.3:c.1792C>A	17.37:g.58740887C>A	ENSP00000306682:p.His598Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	Q53XP4|Q6P991|Q8IVR6	Missense_Mutation	SNP	pfam_PP2C-like,superfamily_PP2C-like,smart_PP2C-like	p.H598N	ENST00000305921.3	37	c.1792	CCDS11625.1	17	.	.	.	.	.	.	.	.	.	.	C	17.93	3.509424	0.64522	.	.	ENSG00000170836	ENST00000305921	T	0.50813	0.73	5.98	5.98	0.97165	.	0.196194	0.53938	D	0.000060	T	0.41166	0.1147	L	0.29908	0.895	0.40988	D	0.984837	P	0.47106	0.89	B	0.40410	0.328	T	0.21895	-1.0232	10	0.35671	T	0.21	-6.8751	20.452	0.99131	0.0:1.0:0.0:0.0	.	598	O15297	PPM1D_HUMAN	N	598	ENSP00000306682:H598N	ENSP00000306682:H598N	H	+	1	0	PPM1D	56095669	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	4.086000	0.57664	2.838000	0.97847	0.591000	0.81541	CAC	PPM1D	-	NULL		0.413	PPM1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPM1D	HGNC	protein_coding	OTTHUMT00000449474.1	C	NM_003620		58740887	+1	no_errors	ENST00000305921	ensembl	human	known	70_37	missense	SNP	1.000	A
PPM1N	147699	genome.wustl.edu	37	19	46002355	46002355	+	Missense_Mutation	SNP	G	G	C	rs367762624		TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr19:46002355G>C	ENST00000451287.2	+	1	625	c.625G>C	c.(625-627)Gag>Cag	p.E209Q	PPM1N_ENST00000401593.1_5'Flank|PPM1N_ENST00000396735.2_5'Flank|PPM1N_ENST00000401705.1_Intron|RTN2_ENST00000589384.1_5'Flank|RTN2_ENST00000245923.4_5'Flank|PPM1N_ENST00000396737.2_Intron|PPM1N_ENST00000396736.2_5'Flank|RTN2_ENST00000590526.1_5'Flank|RTN2_ENST00000344680.4_5'Flank|PPM1N_ENST00000324688.4_Missense_Mutation_p.E131Q|PPM1N_ENST00000456399.2_Intron	NM_001080401.1	NP_001073870.1	Q8N819	PPM1N_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1N (putative)	209	PP2C-like.						magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|phosphoprotein phosphatase activity (GO:0004721)			NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)	9						CCGGGAACGCGAGCGCATCCA	0.726																																																	0													7.0	9.0	8.0					19																	46002355		1857	4001	5858	SO:0001583	missense	147699			AK097444	CCDS46115.1	19q13.32	2012-04-17			ENSG00000213889	ENSG00000213889		"""Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"""	26845	protein-coding gene	gene with protein product							Standard	NM_001080401		Approved	FLJ40125	uc002pce.3	Q8N819	OTTHUMG00000140397	ENST00000451287.2:c.625G>C	19.37:g.46002355G>C	ENSP00000397050:p.Glu209Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	Q6P662	Missense_Mutation	SNP	pfam_PP2C-like,pfam_PP2C_C,superfamily_PP2C-like,superfamily_PP2C_C,smart_PP2C-like	p.E209Q	ENST00000451287.2	37	c.625	CCDS46115.1	19	.	.	.	.	.	.	.	.	.	.	G	22.1	4.240246	0.79912	.	.	ENSG00000213889	ENST00000451287;ENST00000396734;ENST00000324688	T;T	0.18960	2.18;2.18	3.95	2.89	0.33648	Protein phosphatase 2C-like (5);	0.000000	0.64402	U	0.000004	T	0.23451	0.0567	L	0.38838	1.175	0.53688	D	0.999978	P	0.38048	0.616	P	0.45998	0.5	T	0.05435	-1.0885	10	0.56958	D	0.05	-14.0454	11.835	0.52319	0.0:0.1788:0.8212:0.0	.	209	Q8N819	PPM1N_HUMAN	Q	209;209;131	ENSP00000397050:E209Q;ENSP00000321761:E131Q	ENSP00000321761:E131Q	E	+	1	0	PPM1N	50694195	1.000000	0.71417	1.000000	0.80357	0.907000	0.53573	6.161000	0.71868	1.243000	0.43853	0.313000	0.20887	GAG	PPM1N	-	pfam_PP2C-like,superfamily_PP2C-like,smart_PP2C-like		0.726	PPM1N-007	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	PPM1N	HGNC	protein_coding	OTTHUMT00000326517.2	G	NM_001080401		46002355	+1	no_errors	ENST00000451287	ensembl	human	known	70_37	missense	SNP	1.000	C
PPP1R21	129285	genome.wustl.edu	37	2	48734366	48734366	+	Intron	SNP	C	C	T			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr2:48734366C>T	ENST00000294952.8	+	19	2125				PPP1R21_ENST00000449090.2_Intron|PPP1R21_ENST00000281394.4_Intron|PPP1R21_ENST00000476199.1_3'UTR	NM_001135629.2	NP_001129101.1	Q6ZMI0	PPR21_HUMAN	protein phosphatase 1, regulatory subunit 21							membrane (GO:0016020)	phosphatase binding (GO:0019902)			endometrium(2)|kidney(4)|lung(9)	15						TGCTTCATCTCACTGGTACTT	0.338																																																	0													49.0	46.0	47.0					2																	48734366		2203	4300	6503	SO:0001627	intron_variant	129285			AY134855	CCDS1839.1, CCDS46278.1, CCDS54358.1	2p16.3	2012-04-17	2011-10-11	2011-10-11	ENSG00000162869	ENSG00000162869		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	30595	protein-coding gene	gene with protein product			"""coiled-coil domain containing 128"", ""KLRAQ motif containing 1"""	CCDC128, KLRAQ1		12477932	Standard	NM_001135629		Approved	FLJ16566	uc002rwm.3	Q6ZMI0	OTTHUMG00000129167	ENST00000294952.8:c.1969-42C>T	2.37:g.48734366C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B7ZKY5|B7ZKY7|E1B6W7|Q2TA78|Q6ZMI6|Q8IW83|Q8J029|Q96ES8	RNA	SNP	-	NULL	ENST00000294952.8	37	NULL	CCDS46278.1	2																																																																																			PPP1R21	-	-		0.338	PPP1R21-009	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP1R21	HGNC	protein_coding	OTTHUMT00000251238.4	C	NM_152994		48734366	+1	no_errors	ENST00000476199	ensembl	human	known	70_37	rna	SNP	0.017	T
PPP1R32	220004	genome.wustl.edu	37	11	61249366	61249366	+	Missense_Mutation	SNP	G	G	A	rs372889299		TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr11:61249366G>A	ENST00000338608.2	+	2	210	c.85G>A	c.(85-87)Gcc>Acc	p.A29T	RP11-286N22.8_ENST00000543044.1_3'UTR|RP11-286N22.8_ENST00000544880.1_Intron|PPP1R32_ENST00000432063.2_Missense_Mutation_p.A29T	NM_145017.2	NP_659454.2	Q7Z5V6	PPR32_HUMAN	protein phosphatase 1, regulatory subunit 32	29							phosphatase binding (GO:0019902)										GAAATTCTACGCCACCAGCTA	0.622																																																	0								G	THR/ALA,THR/ALA	0,4404		0,0,2202	37.0	37.0	37.0		85,85	5.1	1.0	11		37	1,8597	1.2+/-3.3	0,1,4298	no	missense,missense	C11orf66	NM_001170753.1,NM_145017.2	58,58	0,1,6500	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging	29/406,29/426	61249366	1,13001	2202	4299	6501	SO:0001583	missense	220004			AK057333	CCDS8008.1, CCDS53641.1	11q12.2	2012-04-17	2011-10-11	2011-10-11	ENSG00000162148	ENSG00000162148		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	28869	protein-coding gene	gene with protein product			"""chromosome 11 open reading frame 66"""	C11orf66		12477932	Standard	NM_145017		Approved	IIIG9, FLJ32771	uc001nru.2	Q7Z5V6	OTTHUMG00000168176	ENST00000338608.2:c.85G>A	11.37:g.61249366G>A	ENSP00000344140:p.Ala29Thr	Somatic		WXS	Illumina HiSeq	Phase_IV	Q4G0P4|Q96M77	Missense_Mutation	SNP	NULL	p.A29T	ENST00000338608.2	37	c.85	CCDS8008.1	11	.	.	.	.	.	.	.	.	.	.	G	23.4	4.414356	0.83449	0.0	1.16E-4	ENSG00000162148	ENST00000432063;ENST00000338608	T;T	0.47528	0.84;1.42	5.1	5.1	0.69264	.	0.240896	0.29624	N	0.011640	T	0.64405	0.2595	M	0.72479	2.2	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.71870	0.964;0.975	T	0.65125	-0.6244	9	.	.	.	-11.5622	11.1869	0.48662	0.0:0.0:0.8166:0.1834	.	29;29	Q7Z5V6-2;Q7Z5V6	.;PPR32_HUMAN	T	29	ENSP00000391560:A29T;ENSP00000344140:A29T	.	A	+	1	0	C11orf66	61005942	0.999000	0.42202	0.992000	0.48379	0.980000	0.70556	3.589000	0.53972	2.383000	0.81215	0.655000	0.94253	GCC	PPP1R32	-	NULL		0.622	PPP1R32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP1R32	HGNC	protein_coding	OTTHUMT00000398621.1	G	NM_145017		61249366	+1	no_errors	ENST00000338608	ensembl	human	known	70_37	missense	SNP	0.979	A
PPP4R1L	55370	genome.wustl.edu	37	20	56823266	56823266	+	Missense_Mutation	SNP	A	A	C			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr20:56823266A>C	ENST00000334187.8	-	8	686	c.673T>G	c.(673-675)Tgc>Ggc	p.C225G	PPP4R1L_ENST00000462333.1_5'UTR|PPP4R1L_ENST00000244070.3_Missense_Mutation_p.C196G			Q9P1A2	PP4RL_HUMAN	protein phosphatase 4, regulatory subunit 1-like	225																	GCCGTGAAGCATTCTGCACAG	0.557																																																	0																																										SO:0001583	missense	55370			AF119843		20q13.32	2013-03-28			ENSG00000124224	ENSG00000124224			15755	other	unknown				C20orf192		14702039, 11780052	Standard	NR_003505		Approved	bA196N14.4, bA196N14.5	uc002xyy.1	Q9P1A2	OTTHUMG00000032838	ENST00000334187.8:c.673T>G	20.37:g.56823266A>C	ENSP00000335579:p.Cys225Gly	Somatic		WXS	Illumina HiSeq	Phase_IV	B4DRM4|Q96LY6|Q9BZ17|Q9BZ18	Missense_Mutation	SNP	pfam_HEAT,superfamily_ARM-type_fold,pfscan_HEAT_type_2	p.C225G	ENST00000334187.8	37	c.673		20	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	12.74|12.74	2.028397|2.028397	0.35797|0.35797	.|.	.|.	ENSG00000124224|ENSG00000124224	ENST00000334187;ENST00000244070|ENST00000422302	T;T|.	0.18657|.	2.2;2.2|.	4.95|4.95	1.31|1.31	0.21738|0.21738	.|.	0.000000|.	0.85682|.	U|.	0.000000|.	T|T	0.45677|0.45677	0.1354|0.1354	.|.	.|.	.|.	0.38304|0.38304	D|D	0.943053|0.943053	D|.	0.60575|.	0.988|.	D|.	0.63957|.	0.92|.	T|T	0.32981|0.32981	-0.9886|-0.9886	9|4	0.52906|.	T|.	0.07|.	.|.	3.8513|3.8513	0.08955|0.08955	0.6641:0.1352:0.0714:0.1292|0.6641:0.1352:0.0714:0.1292	.|.	225|.	B4DRM4|.	.|.	G|R	225;196|47	ENSP00000335579:C225G;ENSP00000244070:C196G|.	ENSP00000244070:C196G|.	C|M	-|-	1|2	0|0	PPP4R1L|PPP4R1L	56256672|56256672	1.000000|1.000000	0.71417|0.71417	0.059000|0.059000	0.19551|0.19551	0.001000|0.001000	0.01503|0.01503	4.585000|4.585000	0.60977|0.60977	-0.049000|-0.049000	0.13379|0.13379	0.533000|0.533000	0.62120|0.62120	TGC|ATG	PPP4R1L	-	pfam_HEAT,superfamily_ARM-type_fold		0.557	PPP4R1L-201	KNOWN	basic|appris_candidate_longest	protein_coding	PPP4R1L	HGNC	protein_coding		A	NR_003505		56823266	-1	no_errors	ENST00000334187	ensembl	human	known	70_37	missense	SNP	1.000	C
PRDM2	7799	genome.wustl.edu	37	1	14108334	14108334	+	Silent	SNP	G	G	A			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr1:14108334G>A	ENST00000235372.7	+	8	4900	c.4044G>A	c.(4042-4044)ttG>ttA	p.L1348L	PRDM2_ENST00000311066.5_Silent_p.L1348L|PRDM2_ENST00000505823.1_Intron|PRDM2_ENST00000376048.5_Intron|PRDM2_ENST00000503842.1_Intron|PRDM2_ENST00000413440.1_Silent_p.L1147L|PRDM2_ENST00000343137.4_Silent_p.L1147L	NM_012231.4	NP_036363.2	Q13029	PRDM2_HUMAN	PR domain containing 2, with ZNF domain	1348					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(16)|lung(20)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	55	Ovarian(185;0.249)	all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145)		TGCCGGAGTTGCACAAACATA	0.438																																																	0													120.0	116.0	117.0					1																	14108334		2203	4300	6503	SO:0001819	synonymous_variant	7799			U17838	CCDS150.1, CCDS151.1, CCDS30603.1, CCDS44061.1	1p36	2011-07-01			ENSG00000116731	ENSG00000116731		"""Chromatin-modifying enzymes / K-methyltransferases"""	9347	protein-coding gene	gene with protein product	"""retinoblastoma protein-binding zinc finger protein"", ""retinoblastoma protein-interacting zinc finger protein"", ""MTE-binding protein"", ""zinc-finger DNA-binding protein"", ""GATA-3 binding protein G3B"""	601196				7538672	Standard	NM_012231		Approved	RIZ, RIZ1, RIZ2, KMT8, MTB-ZF, HUMHOXY1	uc001avi.3	Q13029	OTTHUMG00000007917	ENST00000235372.7:c.4044G>A	1.37:g.14108334G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	B1AJZ4|B5MC68|Q13149|Q14550|Q5THJ1|Q5VUL9	Silent	SNP	pfam_SET_dom,smart_SET_dom,smart_Znf_C2H2-like,pirsf_RIZ_retinblastoma-bd_prot,pfscan_SET_dom,pfscan_Znf_C2H2	p.L1348	ENST00000235372.7	37	c.4044	CCDS150.1	1																																																																																			PRDM2	-	smart_Znf_C2H2-like,pirsf_RIZ_retinblastoma-bd_prot		0.438	PRDM2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PRDM2	HGNC	protein_coding	OTTHUMT00000021792.2	G	NM_012231		14108334	+1	no_errors	ENST00000235372	ensembl	human	known	70_37	silent	SNP	0.992	A
PRG4	10216	genome.wustl.edu	37	1	186280599	186280599	+	Missense_Mutation	SNP	G	G	A			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr1:186280599G>A	ENST00000445192.2	+	10	3709	c.3664G>A	c.(3664-3666)Gat>Aat	p.D1222N	PRG4_ENST00000367485.4_Missense_Mutation_p.D1129N|RNU6-1240P_ENST00000365155.1_RNA|PRG4_ENST00000367483.4_Missense_Mutation_p.D1181N|PRG4_ENST00000367486.3_Missense_Mutation_p.D1179N|PRG4_ENST00000367484.3_Missense_Mutation_p.D751N	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	1222					cell proliferation (GO:0008283)|hematopoietic stem cell proliferation (GO:0071425)|immune response (GO:0006955)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|regulation of cell proliferation (GO:0042127)	extracellular space (GO:0005615)	polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						TTTTACCAATGATATAAAAGA	0.353																																																	0													81.0	93.0	89.0					1																	186280599		2203	4300	6503	SO:0001583	missense	10216			U70136	CCDS1369.1, CCDS44287.1, CCDS44288.1	1q25-q31	2008-07-18	2004-11-15		ENSG00000116690	ENSG00000116690			9364	protein-coding gene	gene with protein product	"""lubricin"", ""megakaryocyte stimulating factor"", ""articular superficial zone protein"", ""Jacobs camptodactyly-arthropathy-pericarditis syndrome"", ""camptodactyly, arthropathy, coxa vara, pericarditis syndrome"", ""bG174L6.2 (MSF: megakaryocyte stimulating factor )"""	604283	"""proteoglycan 4, (megakaryocyte stimulating factor, articular superficial zone protein, camptodactyly, arthropathy, coxa vara, pericarditis syndrome)"""	CACP		10545950, 9920774	Standard	NM_005807		Approved	JCAP, SZP, MSF, HAPO, bG174L6.2, FLJ32635	uc001gru.4	Q92954	OTTHUMG00000035574	ENST00000445192.2:c.3664G>A	1.37:g.186280599G>A	ENSP00000399679:p.Asp1222Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	Q6DNC4|Q6DNC5|Q6ZMZ5|Q9BX49	Missense_Mutation	SNP	pfam_Somatomedin_B_dom,pfam_Hemopexin/matrixin_repeat,superfamily_Hemopexin/matrixin,smart_Somatomedin_B_dom,smart_Hemopexin/matrixin_repeat,pfscan_Somatomedin_B_dom,prints_Somatomedin_B_chordata	p.D1222N	ENST00000445192.2	37	c.3664	CCDS1369.1	1	.	.	.	.	.	.	.	.	.	.	G	14.19	2.462310	0.43736	.	.	ENSG00000116690	ENST00000367486;ENST00000367484;ENST00000367483;ENST00000367485;ENST00000445192	T;T;T;T;T	0.02140	4.43;4.43;4.43;4.43;4.43	4.95	4.04	0.47022	Hemopexin/matrixin (2);	0.138838	0.32161	N	0.006490	T	0.07052	0.0179	L	0.33137	0.985	0.32227	N	0.574496	D;D;D;D	0.76494	0.994;0.994;0.999;0.994	D;D;D;D	0.83275	0.973;0.973;0.996;0.988	T	0.04467	-1.0949	10	0.87932	D	0	-10.196	13.4762	0.61310	0.0762:0.0:0.9238:0.0	.	1088;1129;1222;1181	Q92954-4;Q92954-3;Q92954;Q92954-2	.;.;PRG4_HUMAN;.	N	1179;751;1181;1129;1222	ENSP00000356456:D1179N;ENSP00000356454:D751N;ENSP00000356453:D1181N;ENSP00000356455:D1129N;ENSP00000399679:D1222N	ENSP00000356453:D1181N	D	+	1	0	PRG4	184547222	1.000000	0.71417	0.912000	0.35992	0.845000	0.48019	6.142000	0.71750	1.220000	0.43490	-0.225000	0.12378	GAT	PRG4	-	pfam_Hemopexin/matrixin_repeat,superfamily_Hemopexin/matrixin,smart_Hemopexin/matrixin_repeat		0.353	PRG4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PRG4	HGNC	protein_coding	OTTHUMT00000086346.1	G	NM_005807		186280599	+1	no_errors	ENST00000445192	ensembl	human	known	70_37	missense	SNP	1.000	A
PRKAR1B	5575	genome.wustl.edu	37	7	590220	590220	+	Silent	SNP	C	C	T			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr7:590220C>T	ENST00000406797.1	-	11	1167	c.993G>A	c.(991-993)ctG>ctA	p.L331L	PRKAR1B_ENST00000360274.4_Silent_p.L331L|PRKAR1B_ENST00000403562.1_Silent_p.L331L|PRKAR1B_ENST00000544935.1_Silent_p.L331L|PRKAR1B_ENST00000537384.1_Silent_p.L331L|AC147651.2_ENST00000517177.1_RNA	NM_001164761.1	NP_001158233.1	P31321	KAP1_HUMAN	protein kinase, cAMP-dependent, regulatory, type I, beta	331					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|blood coagulation (GO:0007596)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|learning or memory (GO:0007611)|negative regulation of cAMP-dependent protein kinase activity (GO:2000480)|neurotrophin TRK receptor signaling pathway (GO:0048011)|protein phosphorylation (GO:0006468)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cAMP-dependent protein kinase complex (GO:0005952)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|cAMP-dependent protein kinase inhibitor activity (GO:0004862)|cAMP-dependent protein kinase regulator activity (GO:0008603)|protein kinase A catalytic subunit binding (GO:0034236)			endometrium(4)|large_intestine(1)|liver(1)|lung(10)|prostate(1)	17		Ovarian(82;0.0779)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|Epithelial(4;5.75e-19)|OV - Ovarian serous cystadenocarcinoma(56;2.01e-18)|all cancers(6;3.96e-16)|BRCA - Breast invasive adenocarcinoma(126;0.152)		GGGGCCGGTTCAGCAGCAGTG	0.677																																																	0													11.0	13.0	13.0					7																	590220		2179	4271	6450	SO:0001819	synonymous_variant	5575			M65066	CCDS34579.1	7p22.3	2013-09-19			ENSG00000188191	ENSG00000188191	2.7.11.1		9390	protein-coding gene	gene with protein product		176911				1358799, 3479018	Standard	NM_002735		Approved		uc003siw.2	P31321	OTTHUMG00000151411	ENST00000406797.1:c.993G>A	7.37:g.590220C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q8N422	Silent	SNP	pfam_cNMP-bd_dom,pfam_cAMP_dep_PK_reg_su_I/II_a/b,superfamily_cNMP-bd-like,superfamily_cAMP_dep_PK_reg_su_I/II_a/b,smart_cAMP_dep_PK_reg_su_I/II_a/b,smart_cNMP-bd_dom,pirsf_cAMP_dep_PK_reg_su,pfscan_cNMP-bd_dom,prints_cAMP/cGMP_kin	p.L331	ENST00000406797.1	37	c.993	CCDS34579.1	7																																																																																			PRKAR1B	-	pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pirsf_cAMP_dep_PK_reg_su,pfscan_cNMP-bd_dom,prints_cAMP/cGMP_kin		0.677	PRKAR1B-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PRKAR1B	HGNC	protein_coding	OTTHUMT00000322525.1	C			590220	-1	no_errors	ENST00000360274	ensembl	human	known	70_37	silent	SNP	1.000	T
PRKDC	5591	genome.wustl.edu	37	8	48792096	48792096	+	Missense_Mutation	SNP	G	G	A			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr8:48792096G>A	ENST00000314191.2	-	40	5244	c.5188C>T	c.(5188-5190)Cca>Tca	p.P1730S	PRKDC_ENST00000338368.3_Missense_Mutation_p.P1730S|PRKDC_ENST00000523565.1_5'UTR	NM_006904.6	NP_008835.5	P78527	PRKDC_HUMAN	protein kinase, DNA-activated, catalytic polypeptide	1731					B cell lineage commitment (GO:0002326)|brain development (GO:0007420)|cellular protein modification process (GO:0006464)|cellular response to insulin stimulus (GO:0032869)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via nonhomologous end joining (GO:0006303)|ectopic germ cell programmed cell death (GO:0035234)|heart development (GO:0007507)|immunoglobulin V(D)J recombination (GO:0033152)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of protein phosphorylation (GO:0001933)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|pro-B cell differentiation (GO:0002328)|protein destabilization (GO:0031648)|regulation of circadian rhythm (GO:0042752)|response to gamma radiation (GO:0010332)|rhythmic process (GO:0048511)|signal transduction involved in mitotic G1 DNA damage checkpoint (GO:0072431)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell receptor V(D)J recombination (GO:0033153)|telomere maintenance (GO:0000723)	cytosol (GO:0005829)|DNA-dependent protein kinase-DNA ligase 4 complex (GO:0005958)|membrane (GO:0016020)|nonhomologous end joining complex (GO:0070419)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|transcription factor binding (GO:0008134)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(9)|cervix(3)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(30)|lung(56)|ovary(6)|pancreas(1)|prostate(8)|skin(7)	147		all_cancers(86;0.0336)|all_epithelial(80;0.00111)|Lung NSC(129;0.00363)|all_lung(136;0.00391)			Caffeine(DB00201)	GGAGTTCCTGGAGGAAATTCC	0.428								Non-homologous end-joining																													Esophageal Squamous(79;1091 1253 12329 31680 40677)												0													40.0	41.0	41.0					8																	48792096		1890	4119	6009	SO:0001583	missense	5591				CCDS75734.1, CCDS75735.1	8q11	2014-09-17				ENSG00000253729	2.7.11.1		9413	protein-coding gene	gene with protein product		600899		HYRC, HYRC1		7638222	Standard	NM_001081640		Approved	DNPK1, p350, DNAPK, XRCC7, DNA-PKcs	uc003xqi.3	P78527		ENST00000314191.2:c.5188C>T	8.37:g.48792096G>A	ENSP00000313420:p.Pro1730Ser	Somatic		WXS	Illumina HiSeq	Phase_IV	P78528|Q13327|Q13337|Q14175|Q59H99|Q7Z611|Q96SE6|Q9UME3	Missense_Mutation	SNP	pfam_NUC194,pfam_PIK-rel_kinase_FAT,pfam_PI3/4_kinase_cat_dom,pfam_FATC,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,smart_PI3/4_kinase_cat_dom,pfscan_PIK_FAT,pfscan_FATC,pfscan_PI3/4_kinase_cat_dom	p.P1730S	ENST00000314191.2	37	c.5188		8	.	.	.	.	.	.	.	.	.	.	G	8.654	0.899020	0.17686	.	.	ENSG00000253729	ENST00000314191;ENST00000338368	T;T	0.69040	-0.37;-0.37	5.87	2.93	0.34026	Armadillo-type fold (1);	0.390143	0.26535	N	0.023839	T	0.58566	0.2131	L	0.56769	1.78	0.24569	N	0.993938	B;B	0.26002	0.139;0.009	B;B	0.24701	0.055;0.016	T	0.51741	-0.8667	10	0.40728	T	0.16	.	8.3603	0.32355	0.0:0.218:0.4575:0.3245	.	1730;1731	E7EUY0;P78527	.;PRKDC_HUMAN	S	1730	ENSP00000313420:P1730S;ENSP00000345182:P1730S	ENSP00000313420:P1730S	P	-	1	0	PRKDC	48954649	0.985000	0.35326	0.695000	0.30226	0.087000	0.18053	1.766000	0.38491	0.802000	0.34089	-0.234000	0.12200	CCA	PRKDC	-	superfamily_ARM-type_fold		0.428	PRKDC-201	KNOWN	basic|appris_principal	protein_coding	PRKDC	HGNC	protein_coding		G	NM_001081640		48792096	-1	no_errors	ENST00000314191	ensembl	human	known	70_37	missense	SNP	0.871	A
PRMT9	90826	genome.wustl.edu	37	4	148594246	148594246	+	Missense_Mutation	SNP	C	C	T			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr4:148594246C>T	ENST00000322396.6	-	4	849	c.607G>A	c.(607-609)Gtg>Atg	p.V203M	PRMT10_ENST00000541232.1_Missense_Mutation_p.V90M	NM_138364.2	NP_612373.2	Q6P2P2	ANM9_HUMAN		203	SAM-dependent MTase PRMT-type 1. {ECO:0000255|PROSITE-ProRule:PRU01015}.					cytoplasm (GO:0005737)	protein methyltransferase activity (GO:0008276)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	28						CAGGCATACACGGAATGTGCT	0.388																																																	0													116.0	106.0	110.0					4																	148594246		2203	4300	6503	SO:0001583	missense	90826																														ENST00000322396.6:c.607G>A	4.37:g.148594246C>T	ENSP00000314396:p.Val203Met	Somatic		WXS	Illumina HiSeq	Phase_IV	A8KA39|B3KU92|Q6ZR58|Q8N383|Q9BT55|Q9NT98	Missense_Mutation	SNP	pfam_Ribosomal-L11_MeTrfase_PrmA,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.V203M	ENST00000322396.6	37	c.607	CCDS3771.1	4	.	.	.	.	.	.	.	.	.	.	C	23.8	4.464203	0.84425	.	.	ENSG00000164169	ENST00000322396;ENST00000541232	T;T	0.46819	0.86;0.86	5.58	5.58	0.84498	.	0.109105	0.64402	D	0.000006	T	0.78259	0.4255	H	0.96720	3.87	0.53688	D	0.999975	D	0.89917	1.0	D	0.83275	0.996	D	0.84695	0.0725	10	0.87932	D	0	.	12.8592	0.57903	0.0:0.9258:0.0:0.0742	.	203	Q6P2P2	ANM10_HUMAN	M	203;90	ENSP00000314396:V203M;ENSP00000439508:V90M	ENSP00000314396:V203M	V	-	1	0	PRMT10	148813696	1.000000	0.71417	0.929000	0.37066	0.971000	0.66376	5.771000	0.68881	2.624000	0.88883	0.655000	0.94253	GTG	PRMT10	-	pfam_Ribosomal-L11_MeTrfase_PrmA		0.388	PRMT10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRMT10	HGNC	protein_coding	OTTHUMT00000364650.1	C			148594246	-1	no_errors	ENST00000322396	ensembl	human	known	70_37	missense	SNP	0.998	T
PRPH	5630	genome.wustl.edu	37	12	49691261	49691261	+	Missense_Mutation	SNP	C	C	T			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr12:49691261C>T	ENST00000257860.4	+	6	2617	c.1118C>T	c.(1117-1119)gCg>gTg	p.A373V	RP11-161H23.9_ENST00000553259.1_RNA	NM_006262.3	NP_006253.2	P23942	PRPH2_HUMAN	peripherin	0					cell adhesion (GO:0007155)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)	integral component of membrane (GO:0016021)				kidney(1)|large_intestine(2)|lung(8)|skin(1)	12						GAGGAGATGGCGCGGCACCTG	0.662											OREG0021790	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													26.0	28.0	27.0					12																	49691261		2203	4299	6502	SO:0001583	missense	5630				CCDS8783.1	12q12-q13	2013-01-16						"""Intermediate filaments type III"""	9461	protein-coding gene	gene with protein product		170710		NEF4		1378416	Standard	XM_005269025		Approved	PRPH1	uc001rtu.3	P41219		ENST00000257860.4:c.1118C>T	12.37:g.49691261C>T	ENSP00000257860:p.Ala373Val	Somatic	964	WXS	Illumina HiSeq	Phase_IV	Q5TFH5|Q6DK65	Missense_Mutation	SNP	pfam_F,pfam_Intermed_filament_DNA-bd,prints_Keratin_I	p.A373V	ENST00000257860.4	37	c.1118	CCDS8783.1	12	.	.	.	.	.	.	.	.	.	.	C	37	6.439604	0.97568	.	.	ENSG00000135406	ENST00000257860	D	0.89343	-2.5	5.48	5.48	0.80851	Filament (1);	0.000000	0.39475	N	0.001352	D	0.95645	0.8584	M	0.92367	3.3	0.50313	D	0.999861	D	0.71674	0.998	D	0.66084	0.941	D	0.96317	0.9233	10	0.66056	D	0.02	.	18.1164	0.89556	0.0:1.0:0.0:0.0	.	373	P41219	PERI_HUMAN	V	373	ENSP00000257860:A373V	ENSP00000257860:A373V	A	+	2	0	PRPH	47977528	1.000000	0.71417	0.999000	0.59377	0.998000	0.95712	7.764000	0.85297	2.553000	0.86117	0.655000	0.94253	GCG	PRPH	-	pfam_F,prints_Keratin_I		0.662	PRPH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRPH	HGNC	protein_coding	OTTHUMT00000393381.1	C	NM_006262		49691261	+1	no_errors	ENST00000257860	ensembl	human	known	70_37	missense	SNP	1.000	T
PRR12	57479	genome.wustl.edu	37	19	50100877	50100877	+	Nonsense_Mutation	SNP	C	C	A			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr19:50100877C>A	ENST00000418929.2	+	4	3297	c.3285C>A	c.(3283-3285)taC>taA	p.Y1095*		NM_020719.1	NP_065770.1	Q9ULL5	PRR12_HUMAN	proline rich 12	0							DNA binding (GO:0003677)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(2)|pancreas(1)|prostate(2)	11		all_lung(116;2.45e-07)|Lung NSC(112;1.24e-06)|Ovarian(192;0.0728)|all_neural(266;0.0887)		OV - Ovarian serous cystadenocarcinoma(262;0.00319)|GBM - Glioblastoma multiforme(134;0.0132)		AGAAGCTGTACGCCCAGGAGT	0.637																																																	0													11.0	14.0	13.0					19																	50100877		2076	4172	6248	SO:0001587	stop_gained	57479			AB033031	CCDS46143.1	19q13.33	2008-07-02	2006-02-06	2006-02-06		ENSG00000126464			29217	protein-coding gene	gene with protein product			"""KIAA1205"""	KIAA1205		10574462	Standard	NM_020719		Approved		uc002poo.4	Q9ULL5		ENST00000418929.2:c.3285C>A	19.37:g.50100877C>A	ENSP00000394510:p.Tyr1095*	Somatic		WXS	Illumina HiSeq	Phase_IV	E9PB06|Q8N4J6	Nonsense_Mutation	SNP	NULL	p.Y1095*	ENST00000418929.2	37	c.3285	CCDS46143.1	19	.	.	.	.	.	.	.	.	.	.	C	39	7.829901	0.98513	.	.	ENSG00000126464	ENST00000418929;ENST00000246798;ENST00000314734	.	.	.	4.43	-7.83	0.01201	.	0.000000	0.40640	N	0.001045	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.25106	T	0.35	-9.49	15.9318	0.79668	0.0:0.2072:0.0:0.7928	.	.	.	.	X	1095;275;275	.	ENSP00000246798:Y275X	Y	+	3	2	PRR12	54792689	0.000000	0.05858	0.751000	0.31187	0.986000	0.74619	-4.567000	0.00214	-1.523000	0.01767	0.491000	0.48974	TAC	PRR12	-	NULL		0.637	PRR12-001	NOVEL	basic|appris_principal|CCDS	protein_coding	PRR12	HGNC	protein_coding	OTTHUMT00000465915.1	C	NM_020719		50100877	+1	no_errors	ENST00000418929	ensembl	human	novel	70_37	nonsense	SNP	0.795	A
PRR14	78994	genome.wustl.edu	37	16	30666707	30666707	+	Nonsense_Mutation	SNP	C	C	G			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr16:30666707C>G	ENST00000542965.2	+	8	1736	c.1280C>G	c.(1279-1281)tCa>tGa	p.S427*	PRR14_ENST00000300835.4_Nonsense_Mutation_p.S427*|PRR14_ENST00000571654.1_3'UTR			Q9BWN1	PRR14_HUMAN	proline rich 14	427										breast(3)|endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|skin(1)	18			Colorectal(24;0.103)			CCAAGAGCCTCAAAGGACCAG	0.542																																																	0													101.0	95.0	97.0					16																	30666707		2197	4300	6497	SO:0001587	stop_gained	78994			AK074783	CCDS10687.1	16p11.2	2008-02-05			ENSG00000156858	ENSG00000156858			28458	protein-coding gene	gene with protein product						12477932	Standard	NM_024031		Approved	MGC3121	uc002dyy.3	Q9BWN1	OTTHUMG00000132414	ENST00000542965.2:c.1280C>G	16.37:g.30666707C>G	ENSP00000441641:p.Ser427*	Somatic		WXS	Illumina HiSeq	Phase_IV	Q8WTX2	Nonsense_Mutation	SNP	NULL	p.S427*	ENST00000542965.2	37	c.1280	CCDS10687.1	16	.	.	.	.	.	.	.	.	.	.	C	38	6.958496	0.97964	.	.	ENSG00000156858	ENST00000287463;ENST00000300835;ENST00000542965	.	.	.	4.97	4.01	0.46588	.	0.680972	0.13173	N	0.408100	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.21014	T	0.42	-2.5181	9.1963	0.37231	0.0:0.8977:0.0:0.1023	.	.	.	.	X	400;427;427	.	ENSP00000287463:S400X	S	+	2	0	PRR14	30574208	0.281000	0.24258	0.639000	0.29394	0.959000	0.62525	3.854000	0.55949	1.079000	0.41038	0.313000	0.20887	TCA	PRR14	-	NULL		0.542	PRR14-007	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	PRR14	HGNC	protein_coding	OTTHUMT00000434433.1	C	NM_024031		30666707	+1	no_errors	ENST00000300835	ensembl	human	known	70_37	nonsense	SNP	0.484	G
PRR22	163154	genome.wustl.edu	37	19	5783426	5783426	+	Missense_Mutation	SNP	A	A	C			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr19:5783426A>C	ENST00000419421.2	-	3	936	c.832T>G	c.(832-834)Ttg>Gtg	p.L278V		NM_001134316.1	NP_001127788.1	Q8IZ63	PRR22_HUMAN	proline rich 22	278										endometrium(2)|large_intestine(1)|prostate(1)|urinary_tract(1)	5						GGCAGTGCCAAAGCTCTGGCC	0.667																																																	0													20.0	24.0	23.0					19																	5783426		2195	4291	6486	SO:0001583	missense	163154			BC023278	CCDS45933.1	19p13.3	2012-12-20			ENSG00000212123	ENSG00000212123			28354	protein-coding gene	gene with protein product						12477932	Standard	NM_001134316		Approved	MGC24975	uc010xiv.1	Q8IZ63	OTTHUMG00000180553	ENST00000419421.2:c.832T>G	19.37:g.5783426A>C	ENSP00000407653:p.Leu278Val	Somatic		WXS	Illumina HiSeq	Phase_IV	E9PB31	Missense_Mutation	SNP	NULL	p.L278V	ENST00000419421.2	37	c.832	CCDS45933.1	19	.	.	.	.	.	.	.	.	.	.	A	13.38	2.220261	0.39201	.	.	ENSG00000212123	ENST00000419421	T	0.51817	0.69	3.74	0.216	0.15258	.	.	.	.	.	T	0.22360	0.0539	N	0.08118	0	0.09310	N	1	B;B	0.14012	0.003;0.009	B;B	0.16289	0.009;0.015	T	0.16041	-1.0416	9	0.33940	T	0.23	-1.3036	3.2192	0.06710	0.5394:0.2153:0.2453:0.0	.	278;276	E9PB31;Q8IZ63	.;PRR22_HUMAN	V	278	ENSP00000407653:L278V	ENSP00000407653:L278V	L	-	1	2	PRR22	5734426	0.001000	0.12720	0.000000	0.03702	0.173000	0.22820	0.649000	0.24843	-0.145000	0.11294	0.172000	0.16884	TTG	PRR22	-	NULL		0.667	PRR22-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PRR22	HGNC	protein_coding	OTTHUMT00000368523.1	A	NM_153359		5783426	-1	no_errors	ENST00000419421	ensembl	human	known	70_37	missense	SNP	0.001	C
PRSS48	345062	genome.wustl.edu	37	4	152198351	152198351	+	Silent	SNP	G	G	A			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr4:152198351G>A	ENST00000455694.2	+	1	29	c.27G>A	c.(25-27)acG>acA	p.T9T	PRSS48_ENST00000441586.2_Silent_p.T9T|SH3D19_ENST00000604030.1_Intron	NM_183375.2	NP_899231.2	Q7RTY5	PRS48_HUMAN	protease, serine, 48	9						extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)			kidney(1)|large_intestine(2)|lung(2)|prostate(2)|urinary_tract(1)	8						GTGCCTTCACGCTGCTCCTTC	0.582											OREG0016361	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													41.0	49.0	46.0					4																	152198351		2167	4291	6458	SO:0001819	synonymous_variant	345062			BN000134	CCDS47145.1	4q31.3	2010-05-07			ENSG00000189099	ENSG00000189099		"""Serine peptidases / Serine peptidases"""	24635	protein-coding gene	gene with protein product						12838346	Standard	NM_183375		Approved	ESSPL	uc011cif.2	Q7RTY5	OTTHUMG00000161673	ENST00000455694.2:c.27G>A	4.37:g.152198351G>A		Somatic	1746	WXS	Illumina HiSeq	Phase_IV	Q08E82|Q0VAD4	Silent	SNP	pfam_Peptidase_S1_S6,pfam_Peptidase_S1A_nudel,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A	p.T9	ENST00000455694.2	37	c.27	CCDS47145.1	4																																																																																			PRSS48	-	NULL		0.582	PRSS48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRSS48	HGNC	protein_coding	OTTHUMT00000365685.3	G	NM_183375		152198351	+1	no_errors	ENST00000455694	ensembl	human	known	70_37	silent	SNP	0.001	A
PRTG	283659	genome.wustl.edu	37	15	55912411	55912411	+	Silent	SNP	T	T	G			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr15:55912411T>G	ENST00000389286.4	-	20	3299	c.3252A>C	c.(3250-3252)gtA>gtC	p.V1084V		NM_173814.4	NP_776175.2			protogenin											breast(1)|endometrium(6)|kidney(4)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	41				all cancers(107;0.00891)|GBM - Glioblastoma multiforme(80;0.135)		CACTGATTAATACAGTGGTGC	0.458																																																	0													92.0	91.0	91.0					15																	55912411		1891	4109	6000	SO:0001819	synonymous_variant	283659			AK098622	CCDS42040.1	15q21.3	2013-02-11	2010-06-24		ENSG00000166450	ENSG00000166450		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	26373	protein-coding gene	gene with protein product	"""immunoglobulin superfamily, DCC subclass, member 5"""	613261	"""protogenin homolog (Gallus gallus)"""				Standard	NM_173814		Approved	FLJ25756, IGDCC5	uc002adg.3	Q2VWP7		ENST00000389286.4:c.3252A>C	15.37:g.55912411T>G		Somatic		WXS	Illumina HiSeq	Phase_IV		Silent	SNP	pfam_Fibronectin_type3,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.V1084	ENST00000389286.4	37	c.3252	CCDS42040.1	15																																																																																			PRTG	-	NULL		0.458	PRTG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PRTG	HGNC	protein_coding	OTTHUMT00000419357.1	T	NM_173814		55912411	-1	no_errors	ENST00000389286	ensembl	human	known	70_37	silent	SNP	0.243	G
PSG9	5678	genome.wustl.edu	37	19	43762460	43762460	+	Silent	SNP	G	G	C			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr19:43762460G>C	ENST00000270077.3	-	5	1233	c.1137C>G	c.(1135-1137)ctC>ctG	p.L379L	PSG9_ENST00000418820.2_Silent_p.L286L|PSG9_ENST00000291752.5_Silent_p.L193L|PSG9_ENST00000244293.7_Silent_p.L286L|PSG9_ENST00000596730.1_Silent_p.L193L|PSG9_ENST00000593948.1_Silent_p.L286L|PSG9_ENST00000443718.3_Silent_p.L286L	NM_002784.3	NP_002775.3	Q00887	PSG9_HUMAN	pregnancy specific beta-1-glycoprotein 9	379	Ig-like C2-type 3.				female pregnancy (GO:0007565)	extracellular region (GO:0005576)				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41		Prostate(69;0.00682)				GGGGGATAAAGAGCTTTTGTC	0.443																																																	0													145.0	175.0	165.0					19																	43762460		2140	4282	6422	SO:0001819	synonymous_variant	5678			M34481	CCDS12618.1	19q13.2	2013-01-29			ENSG00000183668	ENSG00000183668		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9526	protein-coding gene	gene with protein product		176398		PSG11		7806221	Standard	XM_005259076		Approved	PSGII	uc002owd.4	Q00887	OTTHUMG00000182826	ENST00000270077.3:c.1137C>G	19.37:g.43762460G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	B2R869|Q15227|Q15236|Q15237|Q8WW78|Q9UQ73	Silent	SNP	pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.L379	ENST00000270077.3	37	c.1137	CCDS12618.1	19																																																																																			PSG9	-	pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like		0.443	PSG9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PSG9	HGNC	protein_coding	OTTHUMT00000323065.1	G	NM_002784		43762460	-1	no_errors	ENST00000270077	ensembl	human	known	70_37	silent	SNP	0.001	C
PSG9	5678	genome.wustl.edu	37	19	43762463	43762463	+	Missense_Mutation	SNP	C	C	G			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr19:43762463C>G	ENST00000270077.3	-	5	1230	c.1134G>C	c.(1132-1134)aaG>aaC	p.K378N	PSG9_ENST00000418820.2_Missense_Mutation_p.K285N|PSG9_ENST00000291752.5_Missense_Mutation_p.K192N|PSG9_ENST00000244293.7_Missense_Mutation_p.K285N|PSG9_ENST00000596730.1_Missense_Mutation_p.K192N|PSG9_ENST00000593948.1_Missense_Mutation_p.K285N|PSG9_ENST00000443718.3_Missense_Mutation_p.K285N	NM_002784.3	NP_002775.3	Q00887	PSG9_HUMAN	pregnancy specific beta-1-glycoprotein 9	378	Ig-like C2-type 3.				female pregnancy (GO:0007565)	extracellular region (GO:0005576)				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(15)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	41		Prostate(69;0.00682)				GGATAAAGAGCTTTTGTCCTG	0.443																																																	0													145.0	176.0	166.0					19																	43762463		2141	4281	6422	SO:0001583	missense	5678			M34481	CCDS12618.1	19q13.2	2013-01-29			ENSG00000183668	ENSG00000183668		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9526	protein-coding gene	gene with protein product		176398		PSG11		7806221	Standard	XM_005259076		Approved	PSGII	uc002owd.4	Q00887	OTTHUMG00000182826	ENST00000270077.3:c.1134G>C	19.37:g.43762463C>G	ENSP00000270077:p.Lys378Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	B2R869|Q15227|Q15236|Q15237|Q8WW78|Q9UQ73	Missense_Mutation	SNP	pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.K378N	ENST00000270077.3	37	c.1134	CCDS12618.1	19	.	.	.	.	.	.	.	.	.	.	N	3.726	-0.056588	0.07362	.	.	ENSG00000183668	ENST00000270077;ENST00000291752;ENST00000443718;ENST00000435220;ENST00000244293	T;T;T;T	0.09817	2.94;2.94;2.94;2.94	1.58	0.14	0.14804	Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.05318	0.0141	N	0.16130	0.375	0.09310	N	1	B;B;B;B;B;B	0.17038	0.004;0.001;0.001;0.02;0.002;0.005	B;B;B;B;B;B	0.17979	0.013;0.013;0.008;0.004;0.02;0.02	T	0.41787	-0.9489	9	0.27082	T	0.32	.	4.2736	0.10797	0.3937:0.6063:0.0:0.0	.	285;234;285;192;378;378	E7EW65;Q15225;Q15227;G3XAA7;Q6LEU7;Q00887	.;.;.;.;.;PSG9_HUMAN	N	378;192;285;339;285	ENSP00000270077:K378N;ENSP00000291752:K192N;ENSP00000396753:K285N;ENSP00000244293:K285N	ENSP00000244293:K285N	K	-	3	2	PSG9	48454303	0.001000	0.12720	0.019000	0.16419	0.004000	0.04260	0.500000	0.22562	0.856000	0.35383	0.194000	0.17425	AAG	PSG9	-	pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like		0.443	PSG9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PSG9	HGNC	protein_coding	OTTHUMT00000323065.1	C	NM_002784		43762463	-1	no_errors	ENST00000270077	ensembl	human	known	70_37	missense	SNP	0.001	G
PSMA8	143471	genome.wustl.edu	37	18	23714030	23714030	+	Splice_Site	SNP	C	C	T			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr18:23714030C>T	ENST00000308268.6	+	1	190	c.101C>T	c.(100-102)gCg>gTg	p.A34V	PSMA8_ENST00000415576.2_Splice_Site_p.A34V|PSMA8_ENST00000343848.6_Splice_Site_p.A34V	NM_001025096.1|NM_144662.2	NP_001020267.1|NP_653263.2	Q8TAA3	PSA7L_HUMAN	proteasome (prosome, macropain) subunit, alpha type, 8	34					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|proteasome core complex, alpha-subunit complex (GO:0019773)|spermatoproteasome complex (GO:1990111)	threonine-type endopeptidase activity (GO:0004298)			breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|skin(2)	16	all_cancers(21;0.000585)|Lung NSC(5;0.00148)|all_lung(6;0.0038)|Ovarian(20;0.124)		OV - Ovarian serous cystadenocarcinoma(3;0.000324)|all cancers(3;0.000954)|LUSC - Lung squamous cell carcinoma(2;0.181)			GGATCCACCGCGGTGAGGAAG	0.547																																																	0													83.0	75.0	78.0					18																	23714030		2203	4300	6503	SO:0001630	splice_region_variant	143471			BC047355	CCDS32808.1, CCDS45842.1, CCDS45843.1	18q11.2	2006-12-18				ENSG00000154611		"""Proteasome (prosome, macropain) subunits"""	22985	protein-coding gene	gene with protein product							Standard	XM_005258199		Approved	MGC26605, PSMA7L	uc002kvq.3	Q8TAA3		ENST00000308268.6:c.102+1C>T	18.37:g.23714030C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B0YJ75|Q8IVP4|Q8TA98|Q8TAA2	Missense_Mutation	SNP	pfam_Proteasome_sua/b,pfam_Proteasome_asu_N,smart_Proteasome_asu_N	p.A34V	ENST00000308268.6	37	c.101	CCDS32808.1	18	.	.	.	.	.	.	.	.	.	.	C	15.78	2.933293	0.52866	.	.	ENSG00000154611	ENST00000308268;ENST00000415576;ENST00000343848;ENST00000536423	T;T;T	0.21031	2.06;2.06;2.03	5.27	4.4	0.53042	.	0.000000	0.85682	D	0.000000	T	0.19805	0.0476	M	0.64567	1.98	0.80722	D	1	P;P;B	0.47484	0.759;0.896;0.301	B;B;B	0.35813	0.152;0.211;0.112	T	0.04440	-1.0951	10	0.49607	T	0.09	-8.3661	11.5278	0.50591	0.0:0.914:0.0:0.086	.	34;34;34	Q8TAA3;Q8TAA3-5;Q8TAA3-2	PSA7L_HUMAN;.;.	V	34	ENSP00000311121:A34V;ENSP00000409284:A34V;ENSP00000345584:A34V	ENSP00000311121:A34V	A	+	2	0	PSMA8	21968028	1.000000	0.71417	0.988000	0.46212	0.915000	0.54546	4.068000	0.57534	1.459000	0.47892	0.655000	0.94253	GCG	PSMA8	-	pfam_Proteasome_sua/b		0.547	PSMA8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PSMA8	HGNC	protein_coding	OTTHUMT00000446255.1	C	NM_144662	Missense_Mutation	23714030	+1	no_errors	ENST00000308268	ensembl	human	known	70_37	missense	SNP	1.000	T
PSMB8	5696	genome.wustl.edu	37	6	32809936	32809936	+	Missense_Mutation	SNP	C	C	A			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr6:32809936C>A	ENST00000374882.3	-	4	562	c.512G>T	c.(511-513)aGt>aTt	p.S171I	PSMB9_ENST00000395330.1_5'Flank|PSMB8_ENST00000395339.3_Missense_Mutation_p.S147I|PSMB8_ENST00000374881.2_Missense_Mutation_p.S167I|TAPSAR1_ENST00000453426.1_lincRNA	NM_148919.3	NP_683720.2	P28062	PSB8_HUMAN	proteasome (prosome, macropain) subunit, beta type, 8	171					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|cytokine-mediated signaling pathway (GO:0019221)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|fat cell differentiation (GO:0045444)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|type I interferon signaling pathway (GO:0060337)|viral process (GO:0016032)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|proteasome complex (GO:0000502)|proteasome core complex (GO:0005839)|spermatoproteasome complex (GO:1990111)	threonine-type endopeptidase activity (GO:0004298)			NS(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(4)|skin(1)|urinary_tract(1)	11					Carfilzomib(DB08889)	ACAGATCATACTGCCCATAGA	0.507																																					NSCLC(48;53 1172 10859 13624 22883)												0													136.0	118.0	125.0					6																	32809936		1511	2709	4220	SO:0001583	missense	5696				CCDS4756.1, CCDS4757.1	6p21.3	2013-03-27	2013-03-27		ENSG00000204264	ENSG00000204264		"""Proteasome (prosome, macropain) subunits"""	9545	protein-coding gene	gene with protein product		177046	"""proteasome (prosome, macropain) subunit, beta type, 8 (large multifunctional protease 7)"", ""large multifunctional peptidase 7"""	LMP7		1529427, 10329130	Standard	XM_005275000		Approved	RING10, D6S216E, PSMB5i, beta5i	uc003oce.3	P28062	OTTHUMG00000031285	ENST00000374882.3:c.512G>T	6.37:g.32809936C>A	ENSP00000364016:p.Ser171Ile	Somatic		WXS	Illumina HiSeq	Phase_IV	B0UZC0|Q29824|Q5JNW6|Q5QNR8|Q96J48	Missense_Mutation	SNP	pfam_Proteasome_sua/b,prints_Pept_T1A_subB	p.S171I	ENST00000374882.3	37	c.512	CCDS4757.1	6	.	.	.	.	.	.	.	.	.	.	C	16.96	3.266586	0.59540	.	.	ENSG00000204264	ENST00000395339;ENST00000374882;ENST00000374881	T;T;T	0.20200	2.09;2.09;2.09	5.08	5.08	0.68730	.	0.039005	0.85682	D	0.000000	T	0.08268	0.0206	N	0.16567	0.415	0.80722	D	1	B;B	0.33477	0.41;0.413	B;B	0.34301	0.179;0.177	T	0.12993	-1.0526	10	0.49607	T	0.09	-24.0755	15.9911	0.80206	0.0:1.0:0.0:0.0	.	167;171	P28062-2;P28062	.;PSB8_HUMAN	I	147;171;167	ENSP00000378748:S147I;ENSP00000364016:S171I;ENSP00000364015:S167I	ENSP00000364015:S167I	S	-	2	0	PSMB8	32917914	1.000000	0.71417	0.994000	0.49952	0.963000	0.63663	3.183000	0.50918	2.358000	0.79984	0.643000	0.83706	AGT	PSMB8	-	pfam_Proteasome_sua/b		0.507	PSMB8-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PSMB8	HGNC	protein_coding	OTTHUMT00000076617.3	C	NM_148919		32809936	-1	no_errors	ENST00000374882	ensembl	human	known	70_37	missense	SNP	1.000	A
PSMC6	5706	genome.wustl.edu	37	14	53187672	53187672	+	Missense_Mutation	SNP	C	C	T			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr14:53187672C>T	ENST00000606149.1	+	11	887	c.871C>T	c.(871-873)Cgt>Tgt	p.R291C	PSMC6_ENST00000445930.2_Missense_Mutation_p.R305C	NM_002806.3	NP_002797.3	P62333	PRS10_HUMAN	proteasome (prosome, macropain) 26S subunit, ATPase, 6	291					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|ATP catabolic process (GO:0006200)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|protein binding, bridging (GO:0030674)			breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|prostate(1)|stomach(1)	19	Breast(41;0.176)					TGCTTTGCTGCGTCCAGGAAG	0.378																																																	0													89.0	92.0	91.0					14																	53187672		2203	4300	6503	SO:0001583	missense	5706				CCDS9710.2	14q22.1	2010-04-21			ENSG00000100519	ENSG00000100519		"""Proteasome (prosome, macropain) subunits"", ""ATPases / AAA-type"""	9553	protein-coding gene	gene with protein product		602708				8674546, 9473509	Standard	NM_002806		Approved	p42	uc010tqx.2	P62333	OTTHUMG00000152333	ENST00000606149.1:c.871C>T	14.37:g.53187672C>T	ENSP00000475721:p.Arg291Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	B2R975|P49719|Q6IBU3|Q92524	Missense_Mutation	SNP	pfam_ATPase_AAA_core,pfam_ATPase_AAA-2,pfam_DNA_helicase_Holl-junc_RuvB_N,smart_AAA+_ATPase,tigrfam_26S_Psome_P45	p.R305C	ENST00000606149.1	37	c.913		14	.	.	.	.	.	.	.	.	.	.	C	22.2	4.264638	0.80358	.	.	ENSG00000100519	ENST00000445930	D	0.96011	-3.88	4.93	4.93	0.64822	ATPase, AAA-type, conserved site (1);ATPase, AAA-type, core (1);ATPase, AAA+ type, core (1);	0.000000	0.85682	D	0.000000	D	0.97570	0.9204	H	0.98446	4.235	0.80722	D	1	P	0.50156	0.932	B	0.43386	0.418	D	0.99690	1.1001	10	0.87932	D	0	.	18.4944	0.90860	0.0:1.0:0.0:0.0	.	291	P62333	PRS10_HUMAN	C	305	ENSP00000401802:R305C	ENSP00000401802:R305C	R	+	1	0	PSMC6	52257422	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	7.487000	0.81328	2.420000	0.82092	0.585000	0.79938	CGT	PSMC6	-	pfam_ATPase_AAA_core,smart_AAA+_ATPase,tigrfam_26S_Psome_P45		0.378	PSMC6-018	KNOWN	basic|appris_candidate	protein_coding	PSMC6	HGNC	protein_coding	OTTHUMT00000470741.1	C	NM_002806		53187672	+1	no_errors	ENST00000445930	ensembl	human	known	70_37	missense	SNP	1.000	T
PTBP3	9991	genome.wustl.edu	37	9	114990700	114990700	+	Silent	SNP	A	A	G			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr9:114990700A>G	ENST00000374255.2	-	12	1338	c.1191T>C	c.(1189-1191)aaT>aaC	p.N397N	PTBP3_ENST00000458258.1_Silent_p.N403N|PTBP3_ENST00000343327.2_Silent_p.N302N|PTBP3_ENST00000334318.6_Silent_p.N400N|PTBP3_ENST00000374257.1_Silent_p.N369N			O95758	PTBP3_HUMAN	polypyrimidine tract binding protein 3	397	RRM 3. {ECO:0000255|PROSITE- ProRule:PRU00176}.				anatomical structure morphogenesis (GO:0009653)|erythrocyte maturation (GO:0043249)|mRNA processing (GO:0006397)|negative regulation of RNA splicing (GO:0033119)|regulation of cell differentiation (GO:0045595)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)										GAACCAAGGCATTTTCTTTCT	0.328																																																	0													116.0	109.0	111.0					9																	114990700		2203	4300	6503	SO:0001819	synonymous_variant	9991			AB023967	CCDS6784.1, CCDS55332.1, CCDS55333.1, CCDS59140.1, CCDS59141.1	9q32	2013-07-16	2011-11-16	2011-11-16	ENSG00000119314	ENSG00000119314		"""RNA binding motif (RRM) containing"""	10253	protein-coding gene	gene with protein product		607527	"""regulator of differentiation (in S. pombe) 1"", ""ROD1 regulator of differentiation 1 (S. pombe)"""	ROD1		10207106	Standard	NM_005156		Approved	DKFZp781I1117	uc004bfx.3	O95758	OTTHUMG00000020503	ENST00000374255.2:c.1191T>C	9.37:g.114990700A>G		Somatic		WXS	Illumina HiSeq	Phase_IV	B1ALY2|B1ALY3|B1ALY5|B1ALY6|B3KME7|Q68DB9|Q86YB3|Q86YH9	Silent	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_HnRNP-L_PTB	p.N403	ENST00000374255.2	37	c.1209	CCDS6784.1	9																																																																																			PTBP3	-	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom,tigrfam_HnRNP-L_PTB		0.328	PTBP3-006	KNOWN	basic|appris_candidate|CCDS	protein_coding	PTBP3	HGNC	protein_coding	OTTHUMT00000053679.1	A			114990700	-1	no_errors	ENST00000458258	ensembl	human	known	70_37	silent	SNP	1.000	G
PTCHD2	57540	genome.wustl.edu	37	1	11589700	11589700	+	Silent	SNP	C	C	T			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr1:11589700C>T	ENST00000294484.6	+	14	3024	c.2886C>T	c.(2884-2886)ccC>ccT	p.P962P	PTCHD2_ENST00000389575.3_Silent_p.P962P	NM_020780.1	NP_065831.1	Q9P2K9	PTHD2_HUMAN	patched domain containing 2	962					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)		GCTCCAGCCCCGATGGGCCTA	0.622																																																	0													56.0	59.0	58.0					1																	11589700		1963	4139	6102	SO:0001819	synonymous_variant	57540			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.2886C>T	1.37:g.11589700C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q5VTU9|Q9UJD6	Silent	SNP	pfam_Patched,pfam_MMPL-typ,pfscan_SSD	p.P962	ENST00000294484.6	37	c.2886	CCDS41247.1	1																																																																																			PTCHD2	-	NULL		0.622	PTCHD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PTCHD2	HGNC	protein_coding	OTTHUMT00000005770.2	C	XM_052561		11589700	+1	no_errors	ENST00000294484	ensembl	human	known	70_37	silent	SNP	0.429	T
PTENP1	11191	genome.wustl.edu	37	9	33676355	33676355	+	RNA	SNP	C	C	T			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr9:33676355C>T	ENST00000532280.1	-	0	1142					NR_023917.1				phosphatase and tensin homolog pseudogene 1 (functional)																		TTGATAAGTTCTAGCTGTGGT	0.408																																																	0																																												11191			AF023139, BC038293, BY797336		9p13.3	2014-09-11	2014-01-16		ENSG00000237984	ENSG00000237984		"""-"""	9589	pseudogene	pseudogene		613531	"""phosphatase and tensin homolog pseudogene 1"""			9393738, 9620558	Standard	NR_023917		Approved	PTEN2, psiPTEN, PTH2, PTEN-rs, PTENpg1	uc003zth.4		OTTHUMG00000000410		9.37:g.33676355C>T		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000532280.1	37	NULL		9																																																																																			PTENP1	-	-		0.408	PTENP1-002	KNOWN	basic	processed_transcript	PTENP1	HGNC	pseudogene	OTTHUMT00000395145.1	C	NR_023917		33676355	-1	no_errors	ENST00000532280	ensembl	human	known	70_37	rna	SNP	1.000	T
PTGES	9536	genome.wustl.edu	37	9	132502013	132502013	+	Silent	SNP	T	T	C			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr9:132502013T>C	ENST00000340607.4	-	3	370	c.336A>G	c.(334-336)gcA>gcG	p.A112A	PTGES_ENST00000481476.1_5'UTR	NM_004878.4	NP_004869.1	O14684	PTGES_HUMAN	prostaglandin E synthase	112	Glutathione binding.				acute inflammatory response (GO:0002526)|arachidonic acid metabolic process (GO:0019369)|chronic inflammatory response (GO:0002544)|cyclooxygenase pathway (GO:0019371)|negative regulation of cell proliferation (GO:0008285)|prostaglandin biosynthetic process (GO:0001516)|prostaglandin metabolic process (GO:0006693)|response to calcium ion (GO:0051592)|response to cytokine (GO:0034097)|response to lipopolysaccharide (GO:0032496)|response to organic cyclic compound (GO:0014070)|response to retinoic acid (GO:0032526)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear envelope lumen (GO:0005641)|perinuclear region of cytoplasm (GO:0048471)	glutathione binding (GO:0043295)|prostaglandin-E synthase activity (GO:0050220)			lung(1)|skin(1)	2		Ovarian(14;0.00556)				CCACGGTGTGTGCCACACGGC	0.622																																																	0													64.0	48.0	53.0					9																	132502013		2192	4290	6482	SO:0001819	synonymous_variant	9536			AF010316	CCDS6927.1	9q34.3	2008-07-21			ENSG00000148344	ENSG00000148344			9599	protein-coding gene	gene with protein product	"""microsomal glutathione S-transferase 1-like 1"", ""tumor protein p53 inducible protein 12"", ""p53-induced gene 12"", ""microsomal prostaglandin E synthase-1"", ""glutathione S-transferase 1-like 1"", ""MGST1-like 1"""	605172		MGST1L1		9305847, 10091672	Standard	NM_004878		Approved	MGST-IV, PIG12, MGST1-L1, TP53I12	uc004byi.3	O14684	OTTHUMG00000020791	ENST00000340607.4:c.336A>G	9.37:g.132502013T>C		Somatic		WXS	Illumina HiSeq	Phase_IV	O14900|Q5SZC0	Silent	SNP	pfam_Membr-assoc_MAPEG	p.A112	ENST00000340607.4	37	c.336	CCDS6927.1	9																																																																																			PTGES	-	pfam_Membr-assoc_MAPEG		0.622	PTGES-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTGES	HGNC	protein_coding	OTTHUMT00000054599.2	T	NM_004878		132502013	-1	no_errors	ENST00000340607	ensembl	human	known	70_37	silent	SNP	0.060	C
PTGFR	5737	genome.wustl.edu	37	1	78958718	78958718	+	Missense_Mutation	SNP	A	A	G			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr1:78958718A>G	ENST00000370757.3	+	2	527	c.290A>G	c.(289-291)gAa>gGa	p.E97G	PTGFR_ENST00000370756.3_Missense_Mutation_p.E97G|PTGFR_ENST00000370758.1_Missense_Mutation_p.E97G	NM_000959.3	NP_000950.1	P43088	PF2R_HUMAN	prostaglandin F receptor (FP)	97					calcium-mediated signaling using intracellular calcium source (GO:0035584)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of apoptotic process (GO:0043066)|parturition (GO:0007567)|response to lipopolysaccharide (GO:0032496)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	prostaglandin F receptor activity (GO:0004958)			breast(6)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	33				Colorectal(170;0.248)	Bimatoprost(DB00905)|Dinoprost Tromethamine(DB01160)|Latanoprost(DB00654)|Tafluprost(DB08819)|Travoprost(DB00287)	TCTGATAAAGAATGGATCCGC	0.443																																																	0													135.0	126.0	129.0					1																	78958718		2203	4300	6503	SO:0001583	missense	5737			AF004021	CCDS686.1, CCDS30759.1	1p31.1	2012-08-08			ENSG00000122420	ENSG00000122420		"""GPCR / Class A : Prostanoid receptors"""	9600	protein-coding gene	gene with protein product		600563				8300593, 7759114	Standard	XM_006710781		Approved	FP	uc001din.3	P43088	OTTHUMG00000009644	ENST00000370757.3:c.290A>G	1.37:g.78958718A>G	ENSP00000359793:p.Glu97Gly	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K9Y0|Q2KHP3|Q6RYQ6|Q9P1X4	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_PglndnF_rcpt,prints_Prostanoid_rcpt,prints_Thbox_rcpt,prints_GPCR_Rhodpsn	p.E97G	ENST00000370757.3	37	c.290	CCDS686.1	1	.	.	.	.	.	.	.	.	.	.	A	10.97	1.502931	0.26949	.	.	ENSG00000122420	ENST00000370758;ENST00000370757;ENST00000370756	T;T;T	0.73363	-0.74;-0.74;-0.74	5.85	5.85	0.93711	GPCR, rhodopsin-like superfamily (1);	0.256239	0.45606	D	0.000348	T	0.47637	0.1456	N	0.17474	0.49	0.37026	D	0.896423	B;P	0.35684	0.379;0.515	B;B	0.36244	0.158;0.22	T	0.53690	-0.8403	10	0.23891	T	0.37	-6.42	16.5479	0.84454	1.0:0.0:0.0:0.0	.	97;97	P43088;P43088-2	PF2R_HUMAN;.	G	97	ENSP00000359794:E97G;ENSP00000359793:E97G;ENSP00000359792:E97G	ENSP00000359792:E97G	E	+	2	0	PTGFR	78731306	1.000000	0.71417	1.000000	0.80357	0.427000	0.31564	7.125000	0.77193	2.371000	0.80710	0.533000	0.62120	GAA	PTGFR	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM		0.443	PTGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTGFR	HGNC	protein_coding	OTTHUMT00000026582.1	A	NM_000959		78958718	+1	no_errors	ENST00000370757	ensembl	human	known	70_37	missense	SNP	1.000	G
PTK6	5753	genome.wustl.edu	37	20	62160943	62160943	+	Silent	SNP	G	G	A			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr20:62160943G>A	ENST00000217185.2	-	8	1329	c.1302C>T	c.(1300-1302)ttC>ttT	p.F434F	PTK6_ENST00000542869.1_Silent_p.F333F	NM_005975.3	NP_005966.1	Q13882	PTK6_HUMAN	protein tyrosine kinase 6	434	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell migration (GO:0016477)|cellular response to retinoic acid (GO:0071300)|intestinal epithelial cell differentiation (GO:0060575)|negative regulation of growth (GO:0045926)|negative regulation of protein tyrosine kinase activity (GO:0061099)|positive regulation of neuron projection development (GO:0010976)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|tyrosine phosphorylation of Stat3 protein (GO:0042503)|tyrosine phosphorylation of Stat5 protein (GO:0042506)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)|ruffle (GO:0001726)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein serine/threonine kinase activity (GO:0004674)			endometrium(3)|kidney(1)|lung(5)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	15	all_cancers(38;2.51e-11)		Epithelial(9;1.5e-08)|all cancers(9;8.67e-08)|BRCA - Breast invasive adenocarcinoma(10;6.43e-06)		Vandetanib(DB05294)	GCAGGGCCTTGAAGCAGGGTC	0.682																																																	0													25.0	24.0	24.0					20																	62160943		2193	4283	6476	SO:0001819	synonymous_variant	5753			U61412	CCDS13524.1, CCDS74750.1	20q13.3	2013-02-18	2013-02-18		ENSG00000101213	ENSG00000101213	2.7.10.1	"""SH2 domain containing"""	9617	protein-coding gene	gene with protein product		602004	"""PTK6 protein tyrosine kinase 6"""			8247543, 9284935	Standard	NM_005975		Approved	BRK	uc002yfg.4	Q13882	OTTHUMG00000033039	ENST00000217185.2:c.1302C>T	20.37:g.62160943G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	B2RCR3|B4DW46|Q58F01	Silent	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_SH2,pfam_SH3_2,pfam_SH3_domain,superfamily_Kinase-like_dom,superfamily_SH3_domain,smart_SH3_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_SH2,pfscan_SH3_domain,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_SH2,prints_SH3_domain	p.F434	ENST00000217185.2	37	c.1302	CCDS13524.1	20																																																																																			PTK6	-	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom		0.682	PTK6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTK6	HGNC	protein_coding	OTTHUMT00000080313.1	G			62160943	-1	no_errors	ENST00000217185	ensembl	human	known	70_37	silent	SNP	0.827	A
PTPN14	5784	genome.wustl.edu	37	1	214706660	214706660	+	Intron	SNP	C	C	A			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr1:214706660C>A	ENST00000366956.5	-	1	41				PTPN14_ENST00000491277.1_5'UTR	NM_005401.4	NP_005392.2	Q15678	PTN14_HUMAN	protein tyrosine phosphatase, non-receptor type 14						lymphangiogenesis (GO:0001946)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of protein export from nucleus (GO:0046825)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	protein tyrosine phosphatase activity (GO:0004725)|receptor tyrosine kinase binding (GO:0030971)|transcription cofactor activity (GO:0003712)			NS(2)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(9)|liver(3)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	58				OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155)		CACCACCTACCGCTGCCTGCT	0.582																																					Colon(92;557 1424 24372 34121 40073)												0																																										SO:0001627	intron_variant	5784			X82676	CCDS1514.1	1q32.2	2011-06-09			ENSG00000152104	ENSG00000152104		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9647	protein-coding gene	gene with protein product		603155				7733990	Standard	NM_005401		Approved	PEZ	uc001hkk.2	Q15678	OTTHUMG00000037039	ENST00000366956.5:c.153+17865G>T	1.37:g.214706660C>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q5VSI0	RNA	SNP	-	NULL	ENST00000366956.5	37	NULL	CCDS1514.1	1																																																																																			PTPN14	-	-		0.582	PTPN14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPN14	HGNC	protein_coding	OTTHUMT00000089918.2	C	NM_005401		214706660	-1	no_errors	ENST00000491277	ensembl	human	putative	70_37	rna	SNP	0.998	A
PTPRC	5788	genome.wustl.edu	37	1	198711006	198711006	+	Missense_Mutation	SNP	A	A	C			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr1:198711006A>C	ENST00000367376.2	+	24	2577	c.2406A>C	c.(2404-2406)gaA>gaC	p.E802D	PTPRC_ENST00000442510.2_Missense_Mutation_p.E804D|PTPRC_ENST00000348564.6_Missense_Mutation_p.E643D|PTPRC_ENST00000594404.1_Missense_Mutation_p.E641D|PTPRC_ENST00000352140.3_Missense_Mutation_p.E754D	NM_002838.4	NP_002829.3	P08575	PTPRC_HUMAN	protein tyrosine phosphatase, receptor type, C	802	Tyrosine-protein phosphatase 1. {ECO:0000255|PROSITE-ProRule:PRU00160}.				axon guidance (GO:0007411)|B cell proliferation (GO:0042100)|B cell receptor signaling pathway (GO:0050853)|bone marrow development (GO:0048539)|cell cycle phase transition (GO:0044770)|cell surface receptor signaling pathway (GO:0007166)|defense response to virus (GO:0051607)|dephosphorylation (GO:0016311)|hematopoietic progenitor cell differentiation (GO:0002244)|immunoglobulin biosynthetic process (GO:0002378)|negative regulation of cell adhesion involved in substrate-bound cell migration (GO:0006933)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of T cell mediated cytotoxicity (GO:0001915)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of antigen receptor-mediated signaling pathway (GO:0050857)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of hematopoietic stem cell migration (GO:2000473)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of stem cell proliferation (GO:2000648)|positive regulation of T cell proliferation (GO:0042102)|protein dephosphorylation (GO:0006470)|regulation of cell cycle (GO:0051726)|release of sequestered calcium ion into cytosol (GO:0051209)|stem cell development (GO:0048864)|T cell differentiation (GO:0030217)|T cell receptor signaling pathway (GO:0050852)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(7)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(22)|lung(41)|ovary(4)|pancreas(2)|prostate(1)|skin(13)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	111						AGAAAAAAGAAAAAGCAACTG	0.413																																																	0													36.0	37.0	36.0					1																	198711006		2203	4300	6503	SO:0001583	missense	5788			Y00062	CCDS1397.1, CCDS1398.1, CCDS44291.1, CCDS1397.2, CCDS1398.2, CCDS44291.2	1q31-q32	2014-09-17			ENSG00000081237	ENSG00000081237		"""CD molecules"", ""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9666	protein-coding gene	gene with protein product		151460		CD45		2169617	Standard	NM_001267798		Approved	LCA, T200, GP180	uc001gur.2	P08575	OTTHUMG00000035702	ENST00000367376.2:c.2406A>C	1.37:g.198711006A>C	ENSP00000356346:p.Glu802Asp	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K7W6|Q16614|Q9H0Y6	Missense_Mutation	SNP	pirsf_Leukocyte_common_ag,pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Leukocyte_common_ag,pfam_PTP_recept_N,pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,prints_Tyr_Pase_rcpt/non-rcpt,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt	p.E804D	ENST00000367376.2	37	c.2412		1	.	.	.	.	.	.	.	.	.	.	A	18.51	3.638769	0.67130	.	.	ENSG00000081237	ENST00000367376;ENST00000352140;ENST00000442510;ENST00000348564	D	0.83755	-1.76	6.07	-0.84	0.10755	Protein-tyrosine phosphatase, receptor/non-receptor type (3);	0.000000	0.49916	D	0.000128	T	0.80618	0.4657	N	0.21448	0.665	0.53005	D	0.999966	P;D;D	0.56746	0.937;0.977;0.977	D;D;D	0.66497	0.919;0.919;0.944	T	0.74973	-0.3481	10	0.30078	T	0.28	.	11.0659	0.47974	0.6544:0.0:0.3456:0.0	.	643;754;802	B1ALS3;E9PC28;P08575	.;.;PTPRC_HUMAN	D	804;754;802;641	ENSP00000193532:E754D	ENSP00000306782:E641D	E	+	3	2	PTPRC	196977629	1.000000	0.71417	0.808000	0.32385	0.982000	0.71751	0.911000	0.28584	-0.055000	0.13244	0.533000	0.62120	GAA	PTPRC	-	pirsf_Leukocyte_common_ag,pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr_Pase_rcpt/non-rcpt		0.413	PTPRC-202	KNOWN	basic|appris_candidate	protein_coding	PTPRC	HGNC	protein_coding		A			198711006	+1	no_errors	ENST00000442510	ensembl	human	known	70_37	missense	SNP	0.930	C
PTPN14	5784	genome.wustl.edu	37	1	214706672	214706672	+	Intron	SNP	G	G	T			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr1:214706672G>T	ENST00000366956.5	-	1	41				PTPN14_ENST00000491277.1_5'UTR	NM_005401.4	NP_005392.2	Q15678	PTN14_HUMAN	protein tyrosine phosphatase, non-receptor type 14						lymphangiogenesis (GO:0001946)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of protein export from nucleus (GO:0046825)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	protein tyrosine phosphatase activity (GO:0004725)|receptor tyrosine kinase binding (GO:0030971)|transcription cofactor activity (GO:0003712)			NS(2)|breast(3)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(9)|liver(3)|lung(21)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	58				OV - Ovarian serous cystadenocarcinoma(81;0.00181)|all cancers(67;0.00194)|Epithelial(68;0.0157)|GBM - Glioblastoma multiforme(131;0.155)		CTGCCTGCTGGAAGACGGTGA	0.567																																					Colon(92;557 1424 24372 34121 40073)												0																																										SO:0001627	intron_variant	5784			X82676	CCDS1514.1	1q32.2	2011-06-09			ENSG00000152104	ENSG00000152104		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9647	protein-coding gene	gene with protein product		603155				7733990	Standard	NM_005401		Approved	PEZ	uc001hkk.2	Q15678	OTTHUMG00000037039	ENST00000366956.5:c.153+17853C>A	1.37:g.214706672G>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q5VSI0	RNA	SNP	-	NULL	ENST00000366956.5	37	NULL	CCDS1514.1	1																																																																																			PTPN14	-	-		0.567	PTPN14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPN14	HGNC	protein_coding	OTTHUMT00000089918.2	G	NM_005401		214706672	-1	no_errors	ENST00000491277	ensembl	human	putative	70_37	rna	SNP	1.000	T
PTPRD	5789	genome.wustl.edu	37	9	8341854	8341854	+	Missense_Mutation	SNP	C	C	A			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr9:8341854C>A	ENST00000381196.4	-	37	5329	c.4786G>T	c.(4786-4788)Gtt>Ttt	p.V1596F	PTPRD_ENST00000360074.4_Missense_Mutation_p.V1583F|PTPRD_ENST00000358503.5_Missense_Mutation_p.V1574F|PTPRD_ENST00000355233.5_Missense_Mutation_p.V1190F|PTPRD_ENST00000486161.1_Missense_Mutation_p.V1189F|PTPRD_ENST00000356435.5_Missense_Mutation_p.V1596F|PTPRD_ENST00000540109.1_Missense_Mutation_p.V1596F|PTPRD_ENST00000397617.3_Missense_Mutation_p.V1189F|PTPRD_ENST00000397606.3_Missense_Mutation_p.V1189F|PTPRD_ENST00000397611.3_Missense_Mutation_p.V1186F|PTPRD_ENST00000537002.1_Missense_Mutation_p.V1186F	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	1596	Tyrosine-protein phosphatase 1. {ECO:0000255|PROSITE-ProRule:PRU00160}.				heterophilic cell-cell adhesion (GO:0007157)|neuron differentiation (GO:0030182)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphate-containing compound metabolic process (GO:0006796)|positive regulation of dendrite morphogenesis (GO:0050775)|presynaptic membrane assembly (GO:0097105)|protein dephosphorylation (GO:0006470)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	cell adhesion molecule binding (GO:0050839)|receptor binding (GO:0005102)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		TCTGTTTGAACCATATAGTTC	0.378										TSP Lung(15;0.13)																																							0													223.0	212.0	216.0					9																	8341854		2203	4300	6503	SO:0001583	missense	5789			X54133	CCDS6472.1, CCDS43786.1, CCDS6472.2, CCDS55288.1, CCDS55289.1, CCDS55290.1, CCDS75813.1	9p24.1-p23	2013-02-11			ENSG00000153707	ENSG00000153707		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	9668	protein-coding gene	gene with protein product		601598				7896816, 8355697	Standard	NM_002839		Approved	PTPD, HPTP	uc003zkk.3	P23468	OTTHUMG00000021005	ENST00000381196.4:c.4786G>T	9.37:g.8341854C>A	ENSP00000370593:p.Val1596Phe	Somatic		WXS	Illumina HiSeq	Phase_IV	B1ALA0|F5GWT7|Q3KPJ0|Q3KPJ1|Q3KPJ2	Missense_Mutation	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Fibronectin_type3,pfam_Ig_I-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like,prints_Tyr_Pase_rcpt/non-rcpt	p.V1596F	ENST00000381196.4	37	c.4786	CCDS43786.1	9	.	.	.	.	.	.	.	.	.	.	C	24.6	4.548361	0.86127	.	.	ENSG00000153707	ENST00000381196;ENST00000356435;ENST00000360074;ENST00000358503;ENST00000355233;ENST00000397617;ENST00000397611;ENST00000537002;ENST00000346816;ENST00000540109;ENST00000486161;ENST00000397606	D;D;D;D;D;D;D;D;D;D;D	0.88431	-2.38;-2.38;-2.38;-2.38;-2.38;-2.38;-2.38;-2.38;-2.38;-2.38;-2.38	6.07	6.07	0.98685	Protein-tyrosine phosphatase, receptor/non-receptor type (4);Protein-tyrosine/Dual-specificity phosphatase (1);	0.000000	0.85682	D	0.000000	D	0.96629	0.8900	H	0.95224	3.64	0.80722	D	1	D;D;D;D;D;D;D;D;D	0.89917	0.999;0.999;0.999;0.999;1.0;0.999;1.0;1.0;1.0	D;D;D;D;D;D;D;D;D	0.97110	0.993;0.993;0.993;0.993;1.0;0.987;1.0;1.0;0.999	D	0.96851	0.9625	9	.	.	.	.	20.6593	0.99626	0.0:1.0:0.0:0.0	.	1189;1180;1189;1190;1186;1186;1583;1596;1596	Q3KPJ2;Q3KPI9;Q3KPJ0;Q3KPJ1;F5GWT7;F5GWY7;G3XAE2;Q2HXI4;P23468	.;.;.;.;.;.;.;.;PTPRD_HUMAN	F	1596;1596;1583;1574;1190;1189;1186;1186;1067;1596;1189;1189	ENSP00000370593:V1596F;ENSP00000348812:V1596F;ENSP00000353187:V1583F;ENSP00000351293:V1574F;ENSP00000347373:V1190F;ENSP00000380741:V1189F;ENSP00000380735:V1186F;ENSP00000440515:V1186F;ENSP00000438164:V1596F;ENSP00000417093:V1189F;ENSP00000380731:V1189F	.	V	-	1	0	PTPRD	8331854	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.776000	0.85560	2.885000	0.99019	0.655000	0.94253	GTT	PTPRD	-	pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt		0.378	PTPRD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPRD	HGNC	protein_coding	OTTHUMT00000055395.3	C			8341854	-1	no_errors	ENST00000356435	ensembl	human	known	70_37	missense	SNP	1.000	A
PTPRD	5789	genome.wustl.edu	37	9	8389298	8389298	+	Missense_Mutation	SNP	C	C	G			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr9:8389298C>G	ENST00000381196.4	-	34	4863	c.4320G>C	c.(4318-4320)tgG>tgC	p.W1440C	PTPRD_ENST00000360074.4_Missense_Mutation_p.W1427C|PTPRD_ENST00000358503.5_Missense_Mutation_p.W1418C|PTPRD_ENST00000355233.5_Missense_Mutation_p.W1034C|PTPRD_ENST00000486161.1_Missense_Mutation_p.W1033C|PTPRD_ENST00000356435.5_Missense_Mutation_p.W1440C|PTPRD_ENST00000540109.1_Missense_Mutation_p.W1440C|PTPRD_ENST00000397617.3_Missense_Mutation_p.W1033C|PTPRD_ENST00000397606.3_Missense_Mutation_p.W1033C|PTPRD_ENST00000397611.3_Missense_Mutation_p.W1030C|PTPRD_ENST00000537002.1_Missense_Mutation_p.W1030C	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	1440	Tyrosine-protein phosphatase 1. {ECO:0000255|PROSITE-ProRule:PRU00160}.				heterophilic cell-cell adhesion (GO:0007157)|neuron differentiation (GO:0030182)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphate-containing compound metabolic process (GO:0006796)|positive regulation of dendrite morphogenesis (GO:0050775)|presynaptic membrane assembly (GO:0097105)|protein dephosphorylation (GO:0006470)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	cell adhesion molecule binding (GO:0050839)|receptor binding (GO:0005102)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		ATATCATTCTCCAAAAGTCCC	0.403										TSP Lung(15;0.13)																																							0													180.0	173.0	175.0					9																	8389298		2203	4300	6503	SO:0001583	missense	5789			X54133	CCDS6472.1, CCDS43786.1, CCDS6472.2, CCDS55288.1, CCDS55289.1, CCDS55290.1, CCDS75813.1	9p24.1-p23	2013-02-11			ENSG00000153707	ENSG00000153707		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	9668	protein-coding gene	gene with protein product		601598				7896816, 8355697	Standard	NM_002839		Approved	PTPD, HPTP	uc003zkk.3	P23468	OTTHUMG00000021005	ENST00000381196.4:c.4320G>C	9.37:g.8389298C>G	ENSP00000370593:p.Trp1440Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	B1ALA0|F5GWT7|Q3KPJ0|Q3KPJ1|Q3KPJ2	Missense_Mutation	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Fibronectin_type3,pfam_Ig_I-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like,prints_Tyr_Pase_rcpt/non-rcpt	p.W1440C	ENST00000381196.4	37	c.4320	CCDS43786.1	9	.	.	.	.	.	.	.	.	.	.	C	23.6	4.430240	0.83776	.	.	ENSG00000153707	ENST00000381196;ENST00000356435;ENST00000360074;ENST00000358503;ENST00000355233;ENST00000397617;ENST00000397611;ENST00000537002;ENST00000346816;ENST00000540109;ENST00000486161;ENST00000397606	D;D;D;D;D;D;D;D;D;D;D	0.92752	-3.1;-3.1;-3.1;-3.1;-3.1;-3.1;-3.1;-3.1;-3.1;-3.1;-3.1	5.83	5.83	0.93111	Protein-tyrosine phosphatase, receptor/non-receptor type (4);	0.000000	0.85682	D	0.000000	D	0.98090	0.9370	H	0.98951	4.38	0.80722	D	1	D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D;D	0.97110	0.997;0.997;0.997;0.997;1.0;0.996;1.0;1.0;1.0	D	0.99000	1.0811	9	.	.	.	.	20.119	0.97953	0.0:1.0:0.0:0.0	.	1033;1024;1033;1034;1030;1030;1427;1440;1440	Q3KPJ2;Q3KPI9;Q3KPJ0;Q3KPJ1;F5GWT7;F5GWY7;G3XAE2;Q2HXI4;P23468	.;.;.;.;.;.;.;.;PTPRD_HUMAN	C	1440;1440;1427;1418;1034;1033;1030;1030;911;1440;1033;1033	ENSP00000370593:W1440C;ENSP00000348812:W1440C;ENSP00000353187:W1427C;ENSP00000351293:W1418C;ENSP00000347373:W1034C;ENSP00000380741:W1033C;ENSP00000380735:W1030C;ENSP00000440515:W1030C;ENSP00000438164:W1440C;ENSP00000417093:W1033C;ENSP00000380731:W1033C	.	W	-	3	0	PTPRD	8379298	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.776000	0.85560	2.763000	0.94921	0.555000	0.69702	TGG	PTPRD	-	pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt		0.403	PTPRD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPRD	HGNC	protein_coding	OTTHUMT00000055395.3	C			8389298	-1	no_errors	ENST00000356435	ensembl	human	known	70_37	missense	SNP	1.000	G
PTPRT	11122	genome.wustl.edu	37	20	41400170	41400170	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr20:41400170G>A	ENST00000373187.1	-	5	588	c.589C>T	c.(589-591)Cga>Tga	p.R197*	PTPRT_ENST00000373201.1_Nonsense_Mutation_p.R197*|PTPRT_ENST00000356100.2_Nonsense_Mutation_p.R197*|PTPRT_ENST00000373198.4_Nonsense_Mutation_p.R197*|PTPRT_ENST00000373184.1_Nonsense_Mutation_p.R197*|PTPRT_ENST00000373193.3_Nonsense_Mutation_p.R197*|PTPRT_ENST00000373190.1_Nonsense_Mutation_p.R197*			O14522	PTPRT_HUMAN	protein tyrosine phosphatase, receptor type, T	197	Ig-like C2-type.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-catenin binding (GO:0045294)|beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|delta-catenin binding (GO:0070097)|gamma-catenin binding (GO:0045295)|protein tyrosine phosphatase activity (GO:0004725)			NS(2)|breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(12)|large_intestine(26)|liver(1)|lung(63)|ovary(8)|pancreas(2)|prostate(5)|skin(35)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	176		Myeloproliferative disorder(115;0.00452)|Lung NSC(126;0.0573)|all_lung(126;0.0783)				TTTTGGAGTCGCAGAAAATGA	0.498																																																	0													137.0	125.0	129.0					20																	41400170		1956	4162	6118	SO:0001587	stop_gained	11122			AF043644	CCDS42874.1, CCDS68127.1	20q12-q13	2013-02-11			ENSG00000196090	ENSG00000196090		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	9682	protein-coding gene	gene with protein product		608712				9486824, 9602027	Standard	NM_133170		Approved	RPTPrho, KIAA0283	uc010ggj.3	O14522	OTTHUMG00000033040	ENST00000373187.1:c.589C>T	20.37:g.41400170G>A	ENSP00000362283:p.Arg197*	Somatic		WXS	Illumina HiSeq	Phase_IV	A8E4R6|O43655|O75664|Q5W0X9|Q5W0Y1|Q9BR24|Q9BR28|Q9H0Y8|Q9NTL1|Q9NU72|Q9UBD2|Q9UJL7	Nonsense_Mutation	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_MAM_dom,pfam_Fibronectin_type3,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_MAM_dom,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_MAM_dom,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Ig-like,prints_Tyr_Pase_rcpt/non-rcpt,prints_MAM_dom	p.R197*	ENST00000373187.1	37	c.589	CCDS42874.1	20	.	.	.	.	.	.	.	.	.	.	G	39	7.790012	0.98492	.	.	ENSG00000196090	ENST00000373190;ENST00000373187;ENST00000373193;ENST00000356100;ENST00000373198;ENST00000373184;ENST00000373201	.	.	.	5.45	2.4	0.29515	.	0.070857	0.64402	D	0.000019	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	9.4025	0.38442	0.0671:0.0:0.6738:0.2591	.	.	.	.	X	197	.	ENSP00000348408:R197X	R	-	1	2	PTPRT	40833584	1.000000	0.71417	0.999000	0.59377	0.920000	0.55202	6.266000	0.72540	0.345000	0.23873	-0.158000	0.13435	CGA	PTPRT	-	pfscan_Ig-like		0.498	PTPRT-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	PTPRT	HGNC	protein_coding	OTTHUMT00000080315.1	G			41400170	-1	no_errors	ENST00000373198	ensembl	human	known	70_37	nonsense	SNP	1.000	A
PTPRU	10076	genome.wustl.edu	37	1	29642524	29642524	+	Missense_Mutation	SNP	T	T	G			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr1:29642524T>G	ENST00000345512.3	+	25	3533	c.3404T>G	c.(3403-3405)aTc>aGc	p.I1135S	PTPRU_ENST00000356870.3_Missense_Mutation_p.I1131S|PTPRU_ENST00000323874.8_Missense_Mutation_p.I1131S|PTPRU_ENST00000460170.2_Missense_Mutation_p.I1131S|PTPRU_ENST00000373779.3_Missense_Mutation_p.I1125S|PTPRU_ENST00000428026.2_Missense_Mutation_p.I1122S	NM_005704.4	NP_005695.3	Q92729	PTPRU_HUMAN	protein tyrosine phosphatase, receptor type, U	1135	Tyrosine-protein phosphatase 1. {ECO:0000255|PROSITE-ProRule:PRU00160}.				canonical Wnt signaling pathway (GO:0060070)|cell adhesion (GO:0007155)|cell differentiation (GO:0030154)|homotypic cell-cell adhesion (GO:0034109)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|organ regeneration (GO:0031100)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|protein localization to cell surface (GO:0034394)|response to glucocorticoid (GO:0051384)|single organismal cell-cell adhesion (GO:0016337)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	cell-cell junction (GO:0005911)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(4)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(26)|ovary(1)|prostate(3)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	79		Colorectal(325;0.000399)|Lung NSC(340;0.00953)|all_lung(284;0.0112)|Breast(348;0.0126)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;6.99e-07)|COAD - Colon adenocarcinoma(152;3.18e-05)|STAD - Stomach adenocarcinoma(196;0.0234)|READ - Rectum adenocarcinoma(331;0.0686)|BRCA - Breast invasive adenocarcinoma(304;0.0871)		GAGCAGTACATCTTCATTCAT	0.532																																																	0													103.0	86.0	91.0					1																	29642524		2203	4300	6503	SO:0001583	missense	10076			U71075	CCDS334.1, CCDS335.1, CCDS44098.1, CCDS44098.2, CCDS53290.1	1p35.3	2013-02-11			ENSG00000060656	ENSG00000060656		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9683	protein-coding gene	gene with protein product	"""pi R-PTP-Psi"""	602454				8700514, 9434160	Standard	NM_133178		Approved	PTPRO, hPTP-J, PCP-2, FMI, PTP	uc001bru.3	Q92729	OTTHUMG00000003699	ENST00000345512.3:c.3404T>G	1.37:g.29642524T>G	ENSP00000334941:p.Ile1135Ser	Somatic		WXS	Illumina HiSeq	Phase_IV	A6H8L1|O00197|P78399|Q59HA4|Q5SYU4|Q5SYU5|Q92735|Q92850	Missense_Mutation	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_MAM_dom,pfam_Fibronectin_type3,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_MAM_dom,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_MAM_dom,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt,prints_MAM_dom	p.I1135S	ENST00000345512.3	37	c.3404	CCDS334.1	1	.	.	.	.	.	.	.	.	.	.	T	19.54	3.846798	0.71603	.	.	ENSG00000060656	ENST00000345512;ENST00000373779;ENST00000356870;ENST00000323874;ENST00000428026;ENST00000460170	T;T;T;T;T;T	0.30182	1.54;1.54;1.54;1.54;1.54;1.54	4.51	4.51	0.55191	Protein-tyrosine phosphatase, receptor/non-receptor type (4);Protein-tyrosine/Dual-specificity phosphatase (1);	0.072250	0.53938	D	0.000042	T	0.49729	0.1574	M	0.81112	2.525	0.58432	D	0.999995	P;P;P;P;D	0.54207	0.895;0.895;0.895;0.915;0.965	P;P;P;P;P	0.55303	0.663;0.663;0.663;0.773;0.773	T	0.55055	-0.8200	9	.	.	.	.	13.4633	0.61239	0.0:0.0:0.0:1.0	.	1122;1131;1125;1131;1135	Q92729-3;Q92729-4;Q92729-2;E9PH42;Q92729	.;.;.;.;PTPRU_HUMAN	S	1135;1125;1131;1131;1122;1131	ENSP00000334941:I1135S;ENSP00000362884:I1125S;ENSP00000349333:I1131S;ENSP00000314987:I1131S;ENSP00000392332:I1122S;ENSP00000432906:I1131S	.	I	+	2	0	PTPRU	29515111	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.861000	0.87004	2.021000	0.59480	0.459000	0.35465	ATC	PTPRU	-	pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt		0.532	PTPRU-003	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPRU	HGNC	protein_coding	OTTHUMT00000010447.1	T			29642524	+1	no_errors	ENST00000345512	ensembl	human	known	70_37	missense	SNP	1.000	G
PVRIG	79037	genome.wustl.edu	37	7	99818034	99818034	+	Missense_Mutation	SNP	T	T	A			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr7:99818034T>A	ENST00000317271.2	+	3	779	c.416T>A	c.(415-417)tTc>tAc	p.F139Y	GATS_ENST00000543273.1_RNA|GATS_ENST00000436886.2_Intron|AC005071.1_ENST00000410550.1_RNA	NM_024070.3	NP_076975.2	Q6DKI7	PVRIG_HUMAN	poliovirus receptor related immunoglobulin domain containing	139						integral component of membrane (GO:0016021)				breast(1)|endometrium(3)|kidney(1)|lung(3)|prostate(1)|skin(2)	11	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					TTTGCGTCCTTCCCTGAGGGC	0.692																																																	0													7.0	9.0	8.0					7																	99818034		2106	4124	6230	SO:0001583	missense	79037			BC001129	CCDS5690.1	7q22.1	2013-06-26			ENSG00000213413	ENSG00000213413			32190	protein-coding gene	gene with protein product						16926269	Standard	NM_024070		Approved	MGC2463, C7orf15	uc003uuf.1	Q6DKI7	OTTHUMG00000156798	ENST00000317271.2:c.416T>A	7.37:g.99818034T>A	ENSP00000316675:p.Phe139Tyr	Somatic		WXS	Illumina HiSeq	Phase_IV	D6W5U9|Q9BVK3	Missense_Mutation	SNP	NULL	p.F139Y	ENST00000317271.2	37	c.416	CCDS5690.1	7	.	.	.	.	.	.	.	.	.	.	t	12.94	2.088032	0.36855	.	.	ENSG00000213413	ENST00000317271	T	0.59224	0.28	2.78	2.78	0.32641	.	.	.	.	.	T	0.62344	0.2420	L	0.32530	0.975	0.21861	N	0.999504	D	0.67145	0.996	D	0.77557	0.99	T	0.48175	-0.9058	9	0.87932	D	0	.	7.442	0.27190	0.0:0.0:0.0:1.0	.	139	Q6DKI7	PVRIG_HUMAN	Y	139	ENSP00000316675:F139Y	ENSP00000316675:F139Y	F	+	2	0	PVRIG	99655970	0.082000	0.21442	0.989000	0.46669	0.039000	0.13416	0.539000	0.23175	1.544000	0.49359	0.409000	0.27619	TTC	PVRIG	-	NULL		0.692	PVRIG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PVRIG	HGNC	protein_coding	OTTHUMT00000345870.2	T	NM_024070		99818034	+1	no_errors	ENST00000317271	ensembl	human	known	70_37	missense	SNP	0.917	A
PWP2	5822	genome.wustl.edu	37	21	45547816	45547816	+	Missense_Mutation	SNP	G	G	A	rs373315890		TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr21:45547816G>A	ENST00000291576.7	+	18	2271	c.2144G>A	c.(2143-2145)cGc>cAc	p.R715H	PWP2_ENST00000494310.1_3'UTR	NM_005049.2	NP_005040.2	Q15269	PWP2_HUMAN	PWP2 periodic tryptophan protein homolog (yeast)	715					signal transduction (GO:0007165)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|signal transducer activity (GO:0004871)			cervix(1)|endometrium(6)|large_intestine(6)|lung(4)|pancreas(1)|prostate(1)|stomach(1)|urinary_tract(1)	21				STAD - Stomach adenocarcinoma(101;0.172)|Colorectal(79;0.2)		TTCCCAGGGCGCTGCTGGGCG	0.483													G|||	1	0.000199681	0.0	0.0	5008	,	,		15089	0.001		0.0	False		,,,				2504	0.0																0													32.0	34.0	33.0					21																	45547816		2202	4300	6502	SO:0001583	missense	5822				CCDS33579.1	21q22.3	2013-01-10	2001-11-28	2006-11-24	ENSG00000241945	ENSG00000241945		"""WD repeat domain containing"""	9711	protein-coding gene	gene with protein product		601475	"""PWP2 (periodic tryptophan protein, yeast) homolog"""	PWP2H		8893822	Standard	NM_005049		Approved	EHOC-17, UTP1	uc002zeb.3	Q15269	OTTHUMG00000086893	ENST00000291576.7:c.2144G>A	21.37:g.45547816G>A	ENSP00000291576:p.Arg715His	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RAG8|Q96A77	Missense_Mutation	SNP	pfam_WD40_repeat,pfam_SSU_processome_Utp12,superfamily_Quinonprotein_ADH-like,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.R715H	ENST00000291576.7	37	c.2144	CCDS33579.1	21	.	.	.	.	.	.	.	.	.	.	G	15.57	2.873965	0.51695	.	.	ENSG00000241945	ENST00000291576	T	0.62364	0.03	4.56	3.68	0.42216	WD40/YVTN repeat-like-containing domain (1);	0.105649	0.64402	N	0.000003	T	0.61999	0.2392	M	0.80028	2.48	0.47094	D	0.999319	B	0.25390	0.125	B	0.16289	0.015	T	0.64736	-0.6337	10	0.59425	D	0.04	-19.3044	11.7972	0.52106	0.0841:0.0:0.9159:0.0	.	715	Q15269	PWP2_HUMAN	H	715	ENSP00000291576:R715H	ENSP00000291576:R715H	R	+	2	0	PWP2	44372244	1.000000	0.71417	1.000000	0.80357	0.900000	0.52787	4.173000	0.58249	1.229000	0.43630	0.655000	0.94253	CGC	PWP2	-	smart_WD40_repeat		0.483	PWP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PWP2	HGNC	protein_coding	OTTHUMT00000195736.3	G	NM_005049		45547816	+1	no_errors	ENST00000291576	ensembl	human	known	70_37	missense	SNP	1.000	A
PXN	5829	genome.wustl.edu	37	12	120653737	120653737	+	Intron	SNP	C	C	T			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr12:120653737C>T	ENST00000228307.7	-	7	973				PXN_ENST00000458477.2_Intron|PXN_ENST00000536957.1_Intron|PXN_ENST00000267257.7_Intron|PXN_ENST00000538144.1_Intron|PXN_ENST00000397506.3_Missense_Mutation_p.R40H|PXN_ENST00000424649.2_Intron|PXN-AS1_ENST00000535200.1_RNA	NM_001080855.2	NP_001074324.1	P49023	PAXI_HUMAN	paxillin						activation of MAPK activity (GO:0000187)|branching morphogenesis of an epithelial tube (GO:0048754)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cellular component movement (GO:0006928)|cellular response to reactive oxygen species (GO:0034614)|cytoskeleton organization (GO:0007010)|epidermal growth factor receptor signaling pathway (GO:0007173)|focal adhesion assembly (GO:0048041)|growth hormone receptor signaling pathway (GO:0060396)|integrin-mediated signaling pathway (GO:0007229)|lamellipodium assembly (GO:0030032)|muscle contraction (GO:0006936)|peptidyl-tyrosine phosphorylation (GO:0018108)|regulation of cell shape (GO:0008360)|signal complex assembly (GO:0007172)|signal transduction (GO:0007165)|substrate adhesion-dependent cell spreading (GO:0034446)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|microtubule associated complex (GO:0005875)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)	beta-catenin binding (GO:0008013)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)			breast(1)|endometrium(5)|kidney(2)|large_intestine(1)|lung(5)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)					CCTCACCGGGCGCTGGGCCTG	0.632																																																	0													23.0	25.0	24.0					12																	120653737		876	1990	2866	SO:0001627	intron_variant	5829			U14588	CCDS44996.1, CCDS44997.1, CCDS44998.1, CCDS58281.1	12q24	2006-01-23			ENSG00000089159	ENSG00000089159			9718	protein-coding gene	gene with protein product		602505				7534286	Standard	NM_001080855		Approved		uc001txv.3	P49023	OTTHUMG00000169169	ENST00000228307.7:c.832-273G>A	12.37:g.120653737C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B2RAI3|B7ZMB4|O14970|O14971|O60360|Q5HYA4	Missense_Mutation	SNP	pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM	p.R40H	ENST00000228307.7	37	c.119	CCDS44997.1	12	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.26|12.26	1.885266|1.885266	0.33255|0.33255	.|.	.|.	ENSG00000089159|ENSG00000089159	ENST00000550795|ENST00000397506	.|T	.|0.49432	.|0.78	4.08|4.08	-8.15|-8.15	0.01065|0.01065	.|.	.|.	.|.	.|.	.|.	T|T	0.19287|0.19287	0.0463|0.0463	.|.	.|.	.|.	0.09310|0.09310	N|N	1|1	.|B	.|0.02656	.|0.0	.|B	.|0.01281	.|0.0	T|T	0.17258|0.17258	-1.0375|-1.0375	4|8	.|0.14252	.|T	.|0.57	.|.	2.9016|2.9016	0.05707|0.05707	0.2174:0.4224:0.2195:0.1408|0.2174:0.4224:0.2195:0.1408	.|.	.|40	.|E7EMK8	.|.	T|H	25|40	.|ENSP00000380643:R40H	.|ENSP00000380643:R40H	A|R	-|-	1|2	0|0	PXN|PXN	119138120|119138120	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.011000|0.011000	0.07611|0.07611	-3.679000|-3.679000	0.00395|0.00395	-1.882000|-1.882000	0.01122|0.01122	-0.323000|-0.323000	0.08544|0.08544	GCC|CGC	PXN	-	NULL		0.632	PXN-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	PXN	HGNC	protein_coding	OTTHUMT00000402679.4	C	NM_002859		120653737	-1	no_errors	ENST00000397506	ensembl	human	known	70_37	missense	SNP	0.000	T
QPCTL	54814	genome.wustl.edu	37	19	46206302	46206302	+	Missense_Mutation	SNP	C	C	T			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr19:46206302C>T	ENST00000012049.5	+	7	1365	c.1144C>T	c.(1144-1146)Ctc>Ttc	p.L382F	QPCTL_ENST00000366382.4_Missense_Mutation_p.L288F	NM_017659.3	NP_060129.2	Q9NXS2	QPCTL_HUMAN	glutaminyl-peptide cyclotransferase-like	382					peptidyl-pyroglutamic acid biosynthetic process, using glutaminyl-peptide cyclotransferase (GO:0017186)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	glutaminyl-peptide cyclotransferase activity (GO:0016603)|zinc ion binding (GO:0008270)			breast(1)|cervix(2)|endometrium(1)|lung(5)|skin(1)|stomach(1)	11		Ovarian(192;0.051)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0059)|GBM - Glioblastoma multiforme(486;0.0882)|Epithelial(262;0.208)		ATACCTGGGGCTCTAGCGTGC	0.602																																																	0													126.0	85.0	99.0					19																	46206302		2203	4300	6503	SO:0001583	missense	54814			AK000091	CCDS12672.1, CCDS54282.1	19q13.32	2014-09-04			ENSG00000011478	ENSG00000011478			25952	protein-coding gene	gene with protein product	"""glutaminyl cyclase-like"""						Standard	NM_017659		Approved	FLJ20084	uc010xxr.2	Q9NXS2	OTTHUMG00000182131	ENST00000012049.5:c.1144C>T	19.37:g.46206302C>T	ENSP00000012049:p.Leu382Phe	Somatic		WXS	Illumina HiSeq	Phase_IV	Q53HE4|Q96F74	Missense_Mutation	SNP	pfam_Peptidase_M28	p.L382F	ENST00000012049.5	37	c.1144	CCDS12672.1	19	.	.	.	.	.	.	.	.	.	.	C	14.99	2.700639	0.48307	.	.	ENSG00000011478	ENST00000012049;ENST00000366382	T;T	0.28069	1.63;1.78	5.71	5.71	0.89125	.	0.125827	0.53938	D	0.000045	T	0.42223	0.1193	M	0.77820	2.39	0.51482	D	0.999926	D	0.56968	0.978	P	0.45506	0.483	T	0.49263	-0.8958	10	0.87932	D	0	-3.7303	15.3678	0.74538	0.0:1.0:0.0:0.0	.	382	Q9NXS2	QPCTL_HUMAN	F	382;288	ENSP00000012049:L382F;ENSP00000387944:L288F	ENSP00000012049:L382F	L	+	1	0	QPCTL	50898142	0.996000	0.38824	1.000000	0.80357	0.620000	0.37586	2.683000	0.46943	2.709000	0.92574	0.655000	0.94253	CTC	QPCTL	-	NULL		0.602	QPCTL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	QPCTL	HGNC	protein_coding	OTTHUMT00000459656.1	C	NM_017659		46206302	+1	no_errors	ENST00000012049	ensembl	human	known	70_37	missense	SNP	1.000	T
QSER1	79832	genome.wustl.edu	37	11	32955319	32955319	+	Missense_Mutation	SNP	C	C	T			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr11:32955319C>T	ENST00000399302.2	+	4	2463	c.2128C>T	c.(2128-2130)Cat>Tat	p.H710Y	QSER1_ENST00000527788.1_Missense_Mutation_p.H471Y	NM_001076786.1	NP_001070254.1	Q2KHR3	QSER1_HUMAN	glutamine and serine rich 1	710	Gln-rich.									breast(5)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	48	Breast(20;0.158)					AATTCCAAATCATGCTTTAGG	0.418																																																	0													81.0	77.0	78.0					11																	32955319		1903	4125	6028	SO:0001583	missense	79832			AL834141	CCDS41631.1	11p13	2014-02-12			ENSG00000060749	ENSG00000060749			26154	protein-coding gene	gene with protein product							Standard	XM_006718323		Approved	FLJ21924	uc001mty.3	Q2KHR3		ENST00000399302.2:c.2128C>T	11.37:g.32955319C>T	ENSP00000382241:p.His710Tyr	Somatic		WXS	Illumina HiSeq	Phase_IV	Q6ZU30|Q6ZUR5	Missense_Mutation	SNP	NULL	p.H710Y	ENST00000399302.2	37	c.2128	CCDS41631.1	11	.	.	.	.	.	.	.	.	.	.	C	11.24	1.581856	0.28180	.	.	ENSG00000060749	ENST00000399302;ENST00000078652;ENST00000527788	T;T	0.23754	2.23;1.89	5.53	2.17	0.27698	.	0.292022	0.29653	N	0.011557	T	0.18800	0.0451	N	0.19112	0.55	0.23036	N	0.998394	P;P;B	0.47604	0.898;0.51;0.192	B;B;B	0.43867	0.434;0.244;0.123	T	0.08722	-1.0708	10	0.66056	D	0.02	.	12.353	0.55159	0.4634:0.5366:0.0:0.0	.	471;471;710	C9JJ88;Q2KHR3-2;Q2KHR3	.;.;QSER1_HUMAN	Y	710;471;471	ENSP00000382241:H710Y;ENSP00000432766:H471Y	ENSP00000078652:H471Y	H	+	1	0	QSER1	32911895	0.992000	0.36948	0.997000	0.53966	0.944000	0.59088	1.327000	0.33746	0.654000	0.30846	0.591000	0.81541	CAT	QSER1	-	NULL		0.418	QSER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	QSER1	HGNC	protein_coding	OTTHUMT00000388448.1	C	NM_024774		32955319	+1	no_errors	ENST00000399302	ensembl	human	known	70_37	missense	SNP	0.971	T
QSER1	79832	genome.wustl.edu	37	11	32955635	32955635	+	Missense_Mutation	SNP	T	T	G			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr11:32955635T>G	ENST00000399302.2	+	4	2779	c.2444T>G	c.(2443-2445)tTt>tGt	p.F815C	QSER1_ENST00000527788.1_Missense_Mutation_p.F576C	NM_001076786.1	NP_001070254.1	Q2KHR3	QSER1_HUMAN	glutamine and serine rich 1	815										breast(5)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(1)|urinary_tract(1)	48	Breast(20;0.158)					AAGGGCCATTTTAGTGAAACA	0.363																																																	0													66.0	64.0	65.0					11																	32955635		1876	4100	5976	SO:0001583	missense	79832			AL834141	CCDS41631.1	11p13	2014-02-12			ENSG00000060749	ENSG00000060749			26154	protein-coding gene	gene with protein product							Standard	XM_006718323		Approved	FLJ21924	uc001mty.3	Q2KHR3		ENST00000399302.2:c.2444T>G	11.37:g.32955635T>G	ENSP00000382241:p.Phe815Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q6ZU30|Q6ZUR5	Missense_Mutation	SNP	NULL	p.F815C	ENST00000399302.2	37	c.2444	CCDS41631.1	11	.	.	.	.	.	.	.	.	.	.	T	16.14	3.039431	0.55003	.	.	ENSG00000060749	ENST00000399302;ENST00000078652;ENST00000527788	T;T	0.26067	2.11;1.76	5.47	5.47	0.80525	.	0.000000	0.64402	D	0.000001	T	0.50274	0.1606	M	0.67953	2.075	0.50171	D	0.999855	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.998;0.996	T	0.52734	-0.8536	10	0.72032	D	0.01	.	15.5916	0.76534	0.0:0.0:0.0:1.0	.	576;576;815	C9JJ88;Q2KHR3-2;Q2KHR3	.;.;QSER1_HUMAN	C	815;576;576	ENSP00000382241:F815C;ENSP00000432766:F576C	ENSP00000078652:F576C	F	+	2	0	QSER1	32912211	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.594000	0.54008	2.098000	0.63641	0.454000	0.30748	TTT	QSER1	-	NULL		0.363	QSER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	QSER1	HGNC	protein_coding	OTTHUMT00000388448.1	T	NM_024774		32955635	+1	no_errors	ENST00000399302	ensembl	human	known	70_37	missense	SNP	1.000	G
RAB11FIP2	22841	genome.wustl.edu	37	10	119800044	119800044	+	Missense_Mutation	SNP	C	C	T			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr10:119800044C>T	ENST00000355624.3	-	2	825	c.386G>A	c.(385-387)cGa>cAa	p.R129Q	RP11-354M20.3_ENST00000417968.4_RNA|RAB11FIP2_ENST00000369199.3_Missense_Mutation_p.R129Q|RP11-354M20.3_ENST00000451610.2_RNA	NM_014904.2	NP_055719.1	Q7L804	RFIP2_HUMAN	RAB11 family interacting protein 2 (class I)	129					establishment of cell polarity (GO:0030010)|insulin secretion involved in cellular response to glucose stimulus (GO:0035773)|protein transport (GO:0015031)|regulated secretory pathway (GO:0045055)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasmic vesicle membrane (GO:0030659)|endosome (GO:0005768)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)			cervix(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(8)	19		Colorectal(252;0.235)		all cancers(201;0.0238)		GTTTTTGATTCGTTTTCCTTG	0.338																																																	0													87.0	68.0	74.0					10																	119800044		2203	4299	6502	SO:0001583	missense	22841			AY037299	CCDS7602.1	10q26.12	2004-07-22			ENSG00000107560	ENSG00000107560			29152	protein-coding gene	gene with protein product		608599				11994279, 10231032	Standard	NM_014904		Approved	KIAA0941, nRip11, Rab11-FIP2	uc001ldj.2	Q7L804	OTTHUMG00000019128	ENST00000355624.3:c.386G>A	10.37:g.119800044C>T	ENSP00000347839:p.Arg129Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NEI4|Q3I768|Q9Y2F0	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.R129Q	ENST00000355624.3	37	c.386	CCDS7602.1	10	.	.	.	.	.	.	.	.	.	.	C	14.92	2.679479	0.47886	.	.	ENSG00000107560	ENST00000355624;ENST00000369199	T;T	0.71461	-0.57;-0.57	5.39	5.39	0.77823	C2 calcium/lipid-binding domain, CaLB (1);	0.246532	0.46758	D	0.000279	T	0.66703	0.2816	L	0.48362	1.52	0.50171	D	0.999859	B;B	0.30741	0.01;0.293	B;B	0.24848	0.004;0.056	T	0.67741	-0.5592	10	0.72032	D	0.01	-12.7447	19.5154	0.95162	0.0:1.0:0.0:0.0	.	129;129	Q3I768;Q7L804	.;RFIP2_HUMAN	Q	129	ENSP00000347839:R129Q;ENSP00000358200:R129Q	ENSP00000347839:R129Q	R	-	2	0	RAB11FIP2	119790034	1.000000	0.71417	1.000000	0.80357	0.872000	0.50106	4.613000	0.61176	2.685000	0.91497	0.655000	0.94253	CGA	RAB11FIP2	-	superfamily_C2_Ca/lipid-bd_dom_CaLB		0.338	RAB11FIP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAB11FIP2	HGNC	protein_coding	OTTHUMT00000050583.1	C	NM_014904		119800044	-1	no_errors	ENST00000369199	ensembl	human	known	70_37	missense	SNP	1.000	T
RAB33A	9363	genome.wustl.edu	37	X	129306124	129306124	+	Missense_Mutation	SNP	C	C	A			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chrX:129306124C>A	ENST00000257017.4	+	1	502	c.88C>A	c.(88-90)Cag>Aag	p.Q30K		NM_004794.2	NP_004785.1	Q14088	RB33A_HUMAN	RAB33A, member RAS oncogene family	30					antigen processing and presentation (GO:0019882)|GTP catabolic process (GO:0006184)|protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(5)	11						GTCGCTGGACCAGTACGTGCA	0.647																																																	0													67.0	52.0	57.0					X																	129306124		2203	4300	6503	SO:0001583	missense	9363			D14889	CCDS14621.1	Xq26	2008-02-05			ENSG00000134594	ENSG00000134594		"""RAB, member RAS oncogene"""	9773	protein-coding gene	gene with protein product		300333				7688322, 9512502	Standard	NM_004794		Approved	RabS10	uc004evl.3	Q14088	OTTHUMG00000022391	ENST00000257017.4:c.88C>A	X.37:g.129306124C>A	ENSP00000257017:p.Gln30Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q5JUZ6|Q92465	Missense_Mutation	SNP	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_Gtr1_RagA,pfam_EF_GTP-bd_dom,pfam_SRP_receptor_beta_su,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.Q30K	ENST00000257017.4	37	c.88	CCDS14621.1	X	.	.	.	.	.	.	.	.	.	.	C	12.73	2.025207	0.35701	.	.	ENSG00000134594	ENST00000257017	T	0.67345	-0.26	4.67	4.67	0.58626	.	0.402277	0.26708	N	0.022901	T	0.46639	0.1403	N	0.08118	0	0.33961	D	0.645617	B	0.14012	0.009	B	0.14023	0.01	T	0.51068	-0.8752	10	0.17832	T	0.49	-10.5824	16.6477	0.85180	0.0:1.0:0.0:0.0	.	30	Q14088	RB33A_HUMAN	K	30	ENSP00000257017:Q30K	ENSP00000257017:Q30K	Q	+	1	0	RAB33A	129133805	0.999000	0.42202	1.000000	0.80357	0.942000	0.58702	4.788000	0.62439	2.292000	0.77174	0.556000	0.70494	CAG	RAB33A	-	NULL		0.647	RAB33A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAB33A	HGNC	protein_coding	OTTHUMT00000058246.1	C	NM_004794		129306124	+1	no_errors	ENST00000257017	ensembl	human	known	70_37	missense	SNP	1.000	A
RAB4A	5867	genome.wustl.edu	37	1	229422305	229422305	+	Frame_Shift_Del	DEL	A	A	-			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr1:229422305delA	ENST00000366690.4	+	2	312	c.104delA	c.(103-105)gaafs	p.E35fs	RAB4A_ENST00000473894.1_Intron	NM_004578.2	NP_004569.2	P20338	RAB4A_HUMAN	RAB4A, member RAS oncogene family	35					antigen processing and presentation (GO:0019882)|GTP catabolic process (GO:0006184)|membrane organization (GO:0061024)|regulation of endocytosis (GO:0030100)|small GTPase mediated signal transduction (GO:0007264)	endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|vesicle (GO:0031982)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|protein transporter activity (GO:0008565)			central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(6)|ovary(1)|skin(1)	11	Breast(184;0.0858)|Ovarian(103;0.103)	Prostate(94;0.178)				CAGTTTATTGAAAAAAAATGT	0.323																																					Esophageal Squamous(11;250 603 9619 16563)												0													80.0	79.0	79.0					1																	229422305		2202	4298	6500	SO:0001589	frameshift_variant	5867			BC004309	CCDS31050.1, CCDS73046.1	1q42-q43	2014-04-03		2002-02-28	ENSG00000168118	ENSG00000168118		"""RAB, member RAS oncogene"""	9781	protein-coding gene	gene with protein product		179511		RAB4			Standard	NM_004578		Approved	HRES-1/RAB4	uc001hth.4	P20338	OTTHUMG00000037627	ENST00000366690.4:c.104delA	1.37:g.229422305delA	ENSP00000355651:p.Glu35fs	Somatic		WXS	Illumina HiSeq	Phase_IV	Q5T7P7|Q9BQ44	Frame_Shift_Del	DEL	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,pfam_Gtr1_RagA,smart_Small_GTPase_ARF,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.K37fs	ENST00000366690.4	37	c.104	CCDS31050.1	1																																																																																			RAB4A	-	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,pfam_Gtr1_RagA,smart_Small_GTPase_ARF,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom		0.323	RAB4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAB4A	HGNC	protein_coding	OTTHUMT00000091727.3	A	NM_004578		229422305	+1	no_errors	ENST00000366690	ensembl	human	known	70_37	frame_shift_del	DEL	1.000	-
RABGAP1L	9910	genome.wustl.edu	37	1	174769570	174769570	+	Missense_Mutation	SNP	G	G	A			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr1:174769570G>A	ENST00000489615.1	+	1	501	c.100G>A	c.(100-102)Gag>Aag	p.E34K	RABGAP1L_ENST00000251507.4_Intron|RABGAP1L_ENST00000347255.2_Intron|RABGAP1L_ENST00000367687.1_Intron|RABGAP1L_ENST00000325589.5_Intron|RABGAP1L_ENST00000367686.3_Intron	NM_001243765.1	NP_001230694.1	B7ZAP0	RBG10_HUMAN	RAB GTPase activating protein 1-like	0										NS(1)|breast(2)|endometrium(4)|kidney(5)|large_intestine(7)|lung(21)|ovary(2)|prostate(1)|skin(2)	45						GCTGGTGAATGAGTATGCGTG	0.537																																																	0																																										SO:0001583	missense	9910			AF279778	CCDS1314.1, CCDS41437.1, CCDS55662.1, CCDS58046.1	1q24	2011-11-21			ENSG00000152061	ENSG00000152061			24663	protein-coding gene	gene with protein product		609238				10585558	Standard	NM_014857		Approved	HHL, TBC1D18, KIAA0471, FLJ38519	uc001gjx.3	B7ZAP0	OTTHUMG00000034899	ENST00000489615.1:c.100G>A	1.37:g.174769570G>A	ENSP00000420660:p.Glu34Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	B7ZAA4	Missense_Mutation	SNP	superfamily_Rab-GTPase-TBC_dom	p.E34K	ENST00000489615.1	37	c.100	CCDS58046.1	1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.102795	0.76983	.	.	ENSG00000152061	ENST00000489615	.	.	.	5.65	5.65	0.86999	.	.	.	.	.	T	0.70193	0.3196	.	.	.	0.80722	D	1	D	0.56035	0.974	D	0.67725	0.953	T	0.61501	-0.7050	7	0.06494	T	0.89	.	19.7272	0.96168	0.0:0.0:1.0:0.0	.	34	Q5R372-8	.	K	34	.	ENSP00000420660:E34K	E	+	1	0	RABGAP1L	173036193	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.124000	0.77185	2.646000	0.89796	0.655000	0.94253	GAG	RABGAP1L	-	NULL		0.537	RABGAP1L-006	KNOWN	basic|CCDS	protein_coding	RABGAP1L	HGNC	protein_coding	OTTHUMT00000084502.3	G	NM_001243765		174769570	+1	no_errors	ENST00000489615	ensembl	human	known	70_37	missense	SNP	1.000	A
RAD51AP1	10635	genome.wustl.edu	37	12	4657315	4657315	+	Missense_Mutation	SNP	C	C	G			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr12:4657315C>G	ENST00000544927.1	+	5	387	c.377C>G	c.(376-378)tCt>tGt	p.S126C	RAD51AP1_ENST00000321524.7_Missense_Mutation_p.S143C|RAD51AP1_ENST00000352618.4_Missense_Mutation_p.S126C|RAD51AP1_ENST00000228843.9_Missense_Mutation_p.S143C|RAD51AP1_ENST00000543041.1_Missense_Mutation_p.S8C					RAD51 associated protein 1											breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(1)	13			Colorectal(7;0.00306)|COAD - Colon adenocarcinoma(12;0.0389)			CCTCATATCTCTAATTGCAGT	0.269																																																	0													76.0	85.0	82.0					12																	4657315		2201	4298	6499	SO:0001583	missense	10635			AF006259	CCDS8529.1, CCDS44805.1	12p13.2-p13.1	2004-09-16			ENSG00000111247	ENSG00000111247			16956	protein-coding gene	gene with protein product		603070				9396801	Standard	NM_001130862		Approved	PIR51	uc001qmw.3	Q96B01	OTTHUMG00000168125	ENST00000544927.1:c.377C>G	12.37:g.4657315C>G	ENSP00000446296:p.Ser126Cys	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	NULL	p.S143C	ENST00000544927.1	37	c.428		12	.	.	.	.	.	.	.	.	.	.	C	19.30	3.801512	0.70682	.	.	ENSG00000111247	ENST00000321524;ENST00000543041;ENST00000228843;ENST00000352618;ENST00000544927	T;T;T;T;T	0.37584	1.19;1.19;1.19;1.19;1.19	4.86	4.86	0.63082	.	0.437153	0.24571	N	0.037394	T	0.58452	0.2123	M	0.72894	2.215	0.45330	D	0.998323	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.997;0.999;0.999;0.999	T	0.61589	-0.7032	10	0.87932	D	0	-11.5514	13.3534	0.60615	0.0:1.0:0.0:0.0	.	8;143;143;126	B4DUS5;Q96B01;A8K313;Q96B01-2	.;R51A1_HUMAN;.;.	C	143;8;143;126;126	ENSP00000323750:S143C;ENSP00000439960:S8C;ENSP00000228843:S143C;ENSP00000309479:S126C;ENSP00000446296:S126C	ENSP00000228843:S143C	S	+	2	0	RAD51AP1	4527576	1.000000	0.71417	0.990000	0.47175	0.997000	0.91878	3.619000	0.54196	2.518000	0.84900	0.591000	0.81541	TCT	RAD51AP1	-	NULL		0.269	RAD51AP1-012	PUTATIVE	basic|exp_conf	protein_coding	RAD51AP1	HGNC	protein_coding	OTTHUMT00000399208.1	C	NM_006479		4657315	+1	no_errors	ENST00000228843	ensembl	human	known	70_37	missense	SNP	0.998	G
RALGAPA2	57186	genome.wustl.edu	37	20	20553692	20553692	+	Missense_Mutation	SNP	C	C	T			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr20:20553692C>T	ENST00000202677.7	-	21	2735	c.2728G>A	c.(2728-2730)Gat>Aat	p.D910N		NM_020343.3	NP_065076.2	Q2PPJ7	RGPA2_HUMAN	Ral GTPase activating protein, alpha subunit 2 (catalytic)	910					activation of Ral GTPase activity (GO:0032859)|membrane organization (GO:0061024)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	protein heterodimerization activity (GO:0046982)|Ral GTPase activator activity (GO:0017123)			endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(6)|liver(1)|lung(25)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	54						CTACAGTCATCTGTGAGGCAC	0.463																																																	0													43.0	43.0	43.0					20																	20553692		1910	4123	6033	SO:0001583	missense	57186			AL078634, DQ310704	CCDS46584.1	20p11.23	2009-09-09	2009-09-09	2009-09-09	ENSG00000188559	ENSG00000188559			16207	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 74"""	C20orf74		16490346, 19520869	Standard	NM_020343		Approved	dJ1049G11.4, AS250, KIAA1272, RapGAPalpha2	uc002wrz.3	Q2PPJ7	OTTHUMG00000032010	ENST00000202677.7:c.2728G>A	20.37:g.20553692C>T	ENSP00000202677:p.Asp910Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	Q4VXU6|Q5JUA3|Q5JUA4|Q5T9K3|Q96CX9|Q9BQT7|Q9H9D9|Q9ULE8	Missense_Mutation	SNP	pfam_Rap_GAP,superfamily_ARM-type_fold,pfscan_Rap_GAP	p.D910N	ENST00000202677.7	37	c.2728	CCDS46584.1	20	.	.	.	.	.	.	.	.	.	.	C	15.44	2.833087	0.50951	.	.	ENSG00000188559	ENST00000202677	T	0.69926	-0.44	5.93	5.93	0.95920	.	0.000000	0.85682	D	0.000000	T	0.68210	0.2976	M	0.71581	2.175	0.58432	D	0.999995	B;B	0.32731	0.382;0.107	B;B	0.32465	0.146;0.094	T	0.64188	-0.6466	10	0.22706	T	0.39	.	20.3465	0.98790	0.0:1.0:0.0:0.0	.	748;910	A8MSM5;Q2PPJ7	.;RGPA2_HUMAN	N	910	ENSP00000202677:D910N	ENSP00000202677:D910N	D	-	1	0	RALGAPA2	20501692	1.000000	0.71417	0.870000	0.34147	0.232000	0.25224	7.770000	0.85390	2.798000	0.96311	0.655000	0.94253	GAT	RALGAPA2	-	NULL		0.463	RALGAPA2-008	KNOWN	basic|appris_principal|CCDS	protein_coding	RALGAPA2	HGNC	protein_coding	OTTHUMT00000471941.1	C	NM_020343		20553692	-1	no_errors	ENST00000202677	ensembl	human	known	70_37	missense	SNP	1.000	T
RANBP10	57610	genome.wustl.edu	37	16	67761744	67761744	+	Missense_Mutation	SNP	C	C	A			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr16:67761744C>A	ENST00000317506.3	-	12	1645	c.1530G>T	c.(1528-1530)agG>agT	p.R510S	RANBP10_ENST00000411657.2_Missense_Mutation_p.R423S|RANBP10_ENST00000602677.1_Missense_Mutation_p.R540S|RANBP10_ENST00000448631.2_Missense_Mutation_p.R484S|RANBP10_ENST00000536251.1_Missense_Mutation_p.R281S	NM_020850.1	NP_065901.1	Q6VN20	RBP10_HUMAN	RAN binding protein 10	510					microtubule cytoskeleton organization (GO:0000226)	cytoplasmic microtubule (GO:0005881)|nucleus (GO:0005634)	Ran guanyl-nucleotide exchange factor activity (GO:0005087)			endometrium(5)|kidney(2)|large_intestine(3)|lung(10)|ovary(2)|skin(1)	23		Acute lymphoblastic leukemia(13;4.34e-06)|all_hematologic(13;0.000643)|Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.00522)|Epithelial(162;0.025)|all cancers(182;0.157)		ACAGAATGATCCTTTCTGTGG	0.582																																																	0													52.0	46.0	48.0					16																	67761744		2198	4300	6498	SO:0001583	missense	57610			AB040897	CCDS32469.1	16q22	2008-02-05				ENSG00000141084			29285	protein-coding gene	gene with protein product		614031				14684163	Standard	NM_020850		Approved	KIAA1464	uc002eud.3	Q6VN20		ENST00000317506.3:c.1530G>T	16.37:g.67761744C>A	ENSP00000316589:p.Arg510Ser	Somatic		WXS	Illumina HiSeq	Phase_IV	A4FTY2|B4DID0|B4DQH9|E7EW27|Q9P264	Missense_Mutation	SNP	pfam_SPRY_rcpt,pfam_CTLH/CRA,pfam_LisH_dimerisation_subgr,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,smart_CTLH_C,smart_CRA_dom,pfscan_B30.2/SPRY,pfscan_LisH_dimerisation,pfscan_CTLH_C	p.R510S	ENST00000317506.3	37	c.1530	CCDS32469.1	16	.	.	.	.	.	.	.	.	.	.	C	22.1	4.244534	0.79912	.	.	ENSG00000141084	ENST00000317506;ENST00000448631;ENST00000536251;ENST00000411657	.	.	.	5.93	2.4	0.29515	Ran binding protein-like, CRA domain (1);Ran binding protein, CRA domain (1);	0.045464	0.85682	D	0.000000	T	0.67069	0.2854	L	0.54323	1.7	0.80722	D	1	B;D;D	0.64830	0.052;0.994;0.988	B;D;D	0.75020	0.112;0.985;0.95	T	0.66995	-0.5782	9	0.66056	D	0.02	-21.3231	9.3036	0.37861	0.0:0.6107:0.0:0.3893	.	423;484;510	B4DID0;B4DQH9;Q6VN20	.;.;RBP10_HUMAN	S	510;484;281;423	.	ENSP00000316589:R510S	R	-	3	2	RANBP10	66319245	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	1.444000	0.35068	0.791000	0.33826	0.563000	0.77884	AGG	RANBP10	-	pfam_CTLH/CRA,smart_CRA_dom		0.582	RANBP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RANBP10	HGNC	protein_coding	OTTHUMT00000467896.1	C	NM_020850		67761744	-1	no_errors	ENST00000317506	ensembl	human	known	70_37	missense	SNP	1.000	A
RASAL1	8437	genome.wustl.edu	37	12	113546012	113546012	+	Missense_Mutation	SNP	C	C	T	rs376380142		TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr12:113546012C>T	ENST00000261729.5	-	15	1705	c.1390G>A	c.(1390-1392)Gcc>Acc	p.A464T	RASAL1_ENST00000546530.1_Missense_Mutation_p.A465T|RASAL1_ENST00000418411.2_5'UTR|RASAL1_ENST00000446861.3_Missense_Mutation_p.A464T|RASAL1_ENST00000548055.1_Missense_Mutation_p.A464T			O95294	RASL1_HUMAN	RAS protein activator like 1 (GAP1 like)	464	Ras-GAP. {ECO:0000255|PROSITE- ProRule:PRU00167}.				intracellular signal transduction (GO:0035556)|negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of Ras GTPase activity (GO:0032320)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)	metal ion binding (GO:0046872)|phospholipid binding (GO:0005543)|Ras GTPase activator activity (GO:0005099)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(3)|prostate(2)|skin(2)	43						CCACTGATGGCCAGGTACTTC	0.552																																																	0													57.0	48.0	51.0					12																	113546012		2203	4300	6503	SO:0001583	missense	8437			AF086713	CCDS9165.1, CCDS55888.1, CCDS55889.1, CCDS73529.1	12q23-q24	2013-01-10			ENSG00000111344	ENSG00000111344		"""Pleckstrin homology (PH) domain containing"""	9873	protein-coding gene	gene with protein product		604118				9751798	Standard	NM_001193520		Approved	RASAL	uc001tul.3	O95294	OTTHUMG00000169705	ENST00000261729.5:c.1390G>A	12.37:g.113546012C>T	ENSP00000261729:p.Ala464Thr	Somatic		WXS	Illumina HiSeq	Phase_IV	B7ZKM4|C9JFK5|F8VQX1|Q52M03|Q59H24|Q96CC7	Missense_Mutation	SNP	pfam_RasGAP,pfam_C2_Ca-dep,pfam_Znf_Btk_motif,pfam_Pleckstrin_homology,superfamily_Rho_GTPase_activation_prot,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,smart_RasGAP,smart_Pleckstrin_homology,smart_Znf_Btk_motif,pfscan_C2_membr_targeting,pfscan_Pleckstrin_homology,pfscan_Znf_Btk_motif,pfscan_RasGAP	p.A465T	ENST00000261729.5	37	c.1393	CCDS9165.1	12	.	.	.	.	.	.	.	.	.	.	C	26.8	4.776061	0.90195	.	.	ENSG00000111344	ENST00000546530;ENST00000261729;ENST00000446861;ENST00000548055	T;T;T;T	0.80994	-1.44;-1.44;-1.44;-1.44	5.0	5.0	0.66597	Rho GTPase activation protein (1);Ras GTPase-activating protein (4);	0.054483	0.64402	D	0.000001	D	0.91432	0.7296	M	0.92219	3.285	0.80722	D	1	D;P;D;D;D;D;D	0.59767	0.978;0.909;0.973;0.978;0.983;0.986;0.973	P;P;P;P;P;D;P	0.64237	0.805;0.635;0.705;0.872;0.875;0.923;0.705	D	0.93537	0.6874	10	0.72032	D	0.01	.	17.116	0.86689	0.0:1.0:0.0:0.0	.	464;464;464;477;465;464;464	B7ZKM4;B4DG06;F8VRH9;Q59H24;F8VQX1;O95294;O95294-2	.;.;.;.;.;RASL1_HUMAN;.	T	465;464;464;464	ENSP00000450244:A465T;ENSP00000261729:A464T;ENSP00000395920:A464T;ENSP00000448510:A464T	ENSP00000261729:A464T	A	-	1	0	RASAL1	112030395	1.000000	0.71417	1.000000	0.80357	0.700000	0.40528	4.346000	0.59367	2.323000	0.78572	0.555000	0.69702	GCC	RASAL1	-	pfam_RasGAP,superfamily_Rho_GTPase_activation_prot,smart_RasGAP,pfscan_RasGAP		0.552	RASAL1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	RASAL1	HGNC	protein_coding	OTTHUMT00000405522.2	C	NM_004658		113546012	-1	no_errors	ENST00000546530	ensembl	human	known	70_37	missense	SNP	1.000	T
RBM10	8241	genome.wustl.edu	37	X	47041150	47041150	+	Silent	SNP	G	G	A			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chrX:47041150G>A	ENST00000377604.3	+	15	2320	c.1578G>A	c.(1576-1578)tcG>tcA	p.S526S	RBM10_ENST00000345781.6_Silent_p.S449S|RBM10_ENST00000329236.7_Silent_p.S448S	NM_001204467.1|NM_001204468.1|NM_005676.4	NP_001191396.1|NP_001191397.1|NP_005667.2	P98175	RBM10_HUMAN	RNA binding motif protein 10	526					3'-UTR-mediated mRNA stabilization (GO:0070935)|mRNA processing (GO:0006397)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of smooth muscle cell apoptotic process (GO:0034393)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	identical protein binding (GO:0042802)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(8)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	48						ATGACCAGTCGTATACCATCA	0.617																																					Melanoma(171;120 2705 19495 39241)												0													46.0	40.0	42.0					X																	47041150		2203	4300	6503	SO:0001819	synonymous_variant	8241			U35373	CCDS14274.1, CCDS56600.1, CCDS75969.1	Xp11.3	2014-06-09			ENSG00000182872	ENSG00000182872		"""Zinc fingers, RAN-binding domain containing"", ""G patch domain containing"", ""RNA binding motif (RRM) containing"""	9896	protein-coding gene	gene with protein product		300080				8590280, 8808293	Standard	NM_005676		Approved	DXS8237E, KIAA0122, GPATC9, ZRANB5, GPATCH9	uc004dhi.3	P98175	OTTHUMG00000021432	ENST00000377604.3:c.1578G>A	X.37:g.47041150G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	C4AM81|Q14136|Q5JRR2|Q9BTE4|Q9BTX0|Q9NTB1	Silent	SNP	pfam_G_patch_dom,pfam_RRM_dom,pfam_Znf_RanBP2,smart_RRM_dom,smart_Znf_RanBP2,smart_G_patch_dom,pfscan_Znf_RanBP2,pfscan_Znf_C2H2,pfscan_G_patch_dom,pfscan_RRM_dom	p.S526	ENST00000377604.3	37	c.1578	CCDS14274.1	X																																																																																			RBM10	-	NULL		0.617	RBM10-005	KNOWN	basic|appris_principal|CCDS	protein_coding	RBM10	HGNC	protein_coding	OTTHUMT00000056381.1	G	NM_005676		47041150	+1	no_errors	ENST00000377604	ensembl	human	known	70_37	silent	SNP	0.999	A
RBM27	54439	genome.wustl.edu	37	5	145608539	145608539	+	Missense_Mutation	SNP	G	G	A			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr5:145608539G>A	ENST00000265271.5	+	4	500	c.334G>A	c.(334-336)Gat>Aat	p.D112N	RBM27_ENST00000506502.1_Missense_Mutation_p.D112N	NM_018989.1	NP_061862.1	Q9P2N5	RBM27_HUMAN	RNA binding motif protein 27	112					mRNA processing (GO:0006397)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(2)|breast(1)|central_nervous_system(3)|endometrium(4)|kidney(5)|large_intestine(7)|liver(2)|lung(10)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	39			KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			GGAAGAACGAGATGGCAGAAA	0.418																																																	0													127.0	122.0	124.0					5																	145608539		1568	3582	5150	SO:0001583	missense	54439			AL833706	CCDS43378.1	5q32	2013-01-09				ENSG00000091009		"""Zinc fingers, CCCH-type domain containing"", ""RNA binding motif (RRM) containing"""	29243	protein-coding gene	gene with protein product	"""acidic rich RS domain containing 1"""					10718198, 15741184	Standard	NM_018989		Approved	KIAA1311, ARRS1, Psc1, ZC3H18	uc003lnz.4	Q9P2N5		ENST00000265271.5:c.334G>A	5.37:g.145608539G>A	ENSP00000265271:p.Asp112Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	Q8IYW9	Missense_Mutation	SNP	pfam_PWI,pfam_Znf_CCCH,smart_RRM_dom,pfscan_RRM_dom	p.D112N	ENST00000265271.5	37	c.334	CCDS43378.1	5	.	.	.	.	.	.	.	.	.	.	G	15.25	2.778083	0.49786	.	.	ENSG00000091009	ENST00000265271	T	0.46451	0.87	5.56	5.56	0.83823	.	0.144200	0.46758	D	0.000273	T	0.37461	0.1004	L	0.44542	1.39	0.54753	D	0.999981	B;B	0.26635	0.155;0.079	B;B	0.24269	0.029;0.052	T	0.17077	-1.0381	10	0.13470	T	0.59	-8.3894	19.5118	0.95144	0.0:0.0:1.0:0.0	.	112;112	Q9P2N5;B3KY61	RBM27_HUMAN;.	N	112	ENSP00000265271:D112N	ENSP00000265271:D112N	D	+	1	0	RBM27	145588732	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.217000	0.77982	2.609000	0.88269	0.591000	0.81541	GAT	RBM27	-	NULL		0.418	RBM27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RBM27	HGNC	protein_coding	OTTHUMT00000373420.1	G	XM_291128		145608539	+1	no_errors	ENST00000265271	ensembl	human	known	70_37	missense	SNP	1.000	A
RBM39	9584	genome.wustl.edu	37	20	34327244	34327244	+	Intron	SNP	T	T	C			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr20:34327244T>C	ENST00000253363.6	-	3	75				RBM39_ENST00000528062.3_Intron|RBM39_ENST00000407261.4_Intron|RBM39_ENST00000463098.1_5'UTR|RBM39_ENST00000361162.6_Intron|RBM39_ENST00000397370.3_Intron			Q14498	RBM39_HUMAN	RNA binding motif protein 39						mRNA processing (GO:0006397)|regulation of transcription, DNA-templated (GO:0006355)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|transcription, DNA-templated (GO:0006351)	microtubule cytoskeleton (GO:0015630)|microtubule organizing center (GO:0005815)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(6)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35	all_epithelial(2;0.00295)|Lung NSC(9;0.00453)|Breast(12;0.00544)|all_lung(11;0.00676)					AGTGGTTAAATATAATTTCCA	0.289																																																	0																																										SO:0001627	intron_variant	9584			L10910	CCDS13265.1, CCDS13266.1, CCDS56186.1	20q11.22	2014-07-03	2006-07-11	2006-07-11	ENSG00000131051	ENSG00000131051		"""RNA binding motif (RRM) containing"""	15923	protein-coding gene	gene with protein product	"""coactivator of activating protein-1 and estrogen receptors"", ""functional spliceosome-associated protein 59"""	604739	"""RNA-binding region (RNP1, RRM) containing 2"""	RNPC2		8227358, 15694343, 21551269	Standard	NM_184234		Approved	CC1.3, HCC1, CAPER, fSAP59, CAPERalpha	uc002xeb.3	Q14498	OTTHUMG00000032358	ENST00000253363.6:c.52-305A>G	20.37:g.34327244T>C		Somatic		WXS	Illumina HiSeq	Phase_IV	A2RRD3|A5D8W2|B0BLV3|E1P5S0|E1P5S1|Q14499	RNA	SNP	-	NULL	ENST00000253363.6	37	NULL	CCDS13266.1	20																																																																																			RBM39	-	-		0.289	RBM39-002	KNOWN	basic|CCDS	protein_coding	RBM39	HGNC	protein_coding	OTTHUMT00000078931.2	T	NM_184237		34327244	-1	no_errors	ENST00000463098	ensembl	human	known	70_37	rna	SNP	0.641	C
RBMXL3	139804	genome.wustl.edu	37	X	114424964	114424964	+	Silent	SNP	G	G	A			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chrX:114424964G>A	ENST00000424776.3	+	1	1002	c.960G>A	c.(958-960)ccG>ccA	p.P320P	LRCH2_ENST00000538422.1_Intron|LRCH2_ENST00000317135.8_Intron	NM_001145346.1	NP_001138818.1	Q8N7X1	RMXL3_HUMAN	RNA binding motif protein, X-linked-like 3	320							nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			endometrium(13)|kidney(2)|skin(1)	16						GGGGGACACCGCCATCTTATG	0.637																																																	0													32.0	34.0	34.0					X																	114424964		692	1591	2283	SO:0001819	synonymous_variant	139804			AK097568	CCDS55478.1	Xq23	2013-02-12	2009-03-24	2009-03-24	ENSG00000175718	ENSG00000175718		"""RNA binding motif (RRM) containing"""	26859	protein-coding gene	gene with protein product			"""chromosome X open reading frame 55"""	CXorf55			Standard	NM_001145346		Approved	FLJ40249	uc011mte.1	Q8N7X1	OTTHUMG00000022230	ENST00000424776.3:c.960G>A	X.37:g.114424964G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	B4DXC0	Silent	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.P320	ENST00000424776.3	37	c.960	CCDS55478.1	X																																																																																			RBMXL3	-	NULL		0.637	RBMXL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RBMXL3	HGNC	protein_coding	OTTHUMT00000057968.3	G	NM_001145346		114424964	+1	no_errors	ENST00000424776	ensembl	human	known	70_37	silent	SNP	0.203	A
RBP3	5949	genome.wustl.edu	37	10	48388181	48388181	+	Missense_Mutation	SNP	C	C	G	rs368139421		TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr10:48388181C>G	ENST00000224600.4	-	1	2810	c.2697G>C	c.(2695-2697)atG>atC	p.M899I	AL731561.2_ENST00000581861.1_RNA	NM_002900.2	NP_002891.1	P10745	RET3_HUMAN	retinol binding protein 3, interstitial	899	4 X approximate tandem repeats.				lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|retinoid metabolic process (GO:0001523)|transport (GO:0006810)|visual perception (GO:0007601)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|interphotoreceptor matrix (GO:0033165)|vesicle (GO:0031982)	retinal binding (GO:0016918)|retinoid binding (GO:0005501)|retinol binding (GO:0019841)|serine-type peptidase activity (GO:0008236)			central_nervous_system(3)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(30)|ovary(1)|prostate(7)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59					Vitamin A(DB00162)	TGGTGGCACTCATGGCCATCT	0.632																																																	0													56.0	51.0	53.0					10																	48388181		2203	4300	6503	SO:0001583	missense	5949			M22453	CCDS73119.1	10q11.2	2014-05-06	2001-11-28		ENSG00000107618	ENSG00000265203			9921	protein-coding gene	gene with protein product		180290	"""retinol-binding protein 3, interstitial"""				Standard	NM_002900		Approved	D10S64, D10S65, D10S66, RP66	uc001jez.3	P10745	OTTHUMG00000188321	ENST00000224600.4:c.2697G>C	10.37:g.48388181C>G	ENSP00000224600:p.Met899Ile	Somatic		WXS	Illumina HiSeq	Phase_IV	Q0QD34|Q5VSR0|Q8IXN0	Missense_Mutation	SNP	pfam_Interphotoreceptor_retinol-bd,pfam_Interphotorcpt_retinol-bd_N,smart_Interphotoreceptor_retinol-bd	p.M899I	ENST00000224600.4	37	c.2697	CCDS7218.1	10	.	.	.	.	.	.	.	.	.	.	C	11.16	1.556605	0.27827	.	.	ENSG00000107618	ENST00000224600	T	0.61742	0.08	5.67	2.61	0.31194	Interphotoreceptor retinol-binding (2);	0.570321	0.16807	N	0.198701	T	0.17023	0.0409	N	0.00054	-2.38	0.09310	N	0.99999	B	0.02656	0.0	B	0.01281	0.0	T	0.31447	-0.9943	10	0.45353	T	0.12	-8.1371	11.2778	0.49176	0.1094:0.492:0.3986:0.0	.	899	P10745	RET3_HUMAN	I	899	ENSP00000224600:M899I	ENSP00000224600:M899I	M	-	3	0	RBP3	48008187	1.000000	0.71417	1.000000	0.80357	0.903000	0.53119	0.890000	0.28295	1.378000	0.46305	0.655000	0.94253	ATG	RBP3	-	pfam_Interphotoreceptor_retinol-bd,smart_Interphotoreceptor_retinol-bd		0.632	RBP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RBP3	HGNC	protein_coding	OTTHUMT00000047888.1	C	NM_002900		48388181	-1	no_errors	ENST00000224600	ensembl	human	known	70_37	missense	SNP	0.988	G
RELL2	285613	genome.wustl.edu	37	5	141017340	141017340	+	5'UTR	SNP	G	G	A			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr5:141017340G>A	ENST00000297164.3	+	0	748				FCHSD1_ENST00000523856.1_5'Flank|RELL2_ENST00000521367.1_Intron|RELL2_ENST00000518856.1_Intron|HDAC3_ENST00000305264.3_5'Flank|RELL2_ENST00000444782.1_Intron|RELL2_ENST00000518025.1_3'UTR	NM_173828.4	NP_776189.3	Q8NC24	RELL2_HUMAN	RELT-like 2						positive regulation of cell-substrate adhesion (GO:0010811)	basement membrane (GO:0005604)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				large_intestine(2)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	9			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CAGGGTGGGAGAAACCAAAAA	0.667																																																	0																																										SO:0001623	5_prime_UTR_variant	285613			AK054889	CCDS4265.1	5q31.3	2011-10-11	2007-06-15	2007-06-15	ENSG00000164620	ENSG00000164620			26902	protein-coding gene	gene with protein product		611213	"""chromosome 5 open reading frame 16"""	C5orf16		12975309, 16389068	Standard	NM_173828		Approved	FLJ90583	uc003lli.3	Q8NC24	OTTHUMG00000129612	ENST00000297164.3:c.-453G>A	5.37:g.141017340G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	D3DQE2|Q6P4E7|Q6UXY2	RNA	SNP	-	NULL	ENST00000297164.3	37	NULL	CCDS4265.1	5																																																																																			RELL2	-	-		0.667	RELL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RELL2	HGNC	protein_coding	OTTHUMT00000251807.2	G	NM_173828		141017340	+1	no_errors	ENST00000518025	ensembl	human	known	70_37	rna	SNP	0.582	A
REN	5972	genome.wustl.edu	37	1	204129706	204129706	+	Silent	SNP	G	G	A			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr1:204129706G>A	ENST00000272190.8	-	4	502	c.474C>T	c.(472-474)ctC>ctT	p.L158L	REN_ENST00000367195.2_Silent_p.L158L	NM_000537.3	NP_000528.1	P00797	RENI_HUMAN	renin	158					angiotensin maturation (GO:0002003)|beta-amyloid metabolic process (GO:0050435)|cell maturation (GO:0048469)|cellular protein metabolic process (GO:0044267)|cellular response to drug (GO:0035690)|drinking behavior (GO:0042756)|hormone-mediated signaling pathway (GO:0009755)|kidney development (GO:0001822)|male gonad development (GO:0008584)|mesonephros development (GO:0001823)|proteolysis (GO:0006508)|regulation of blood pressure (GO:0008217)|regulation of MAPK cascade (GO:0043408)|renin-angiotensin regulation of aldosterone production (GO:0002018)|response to cAMP (GO:0051591)|response to cGMP (GO:0070305)|response to lipopolysaccharide (GO:0032496)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	aspartic-type endopeptidase activity (GO:0004190)|peptidase activity (GO:0008233)|receptor binding (GO:0005102)			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|skin(4)|urinary_tract(1)	19	all_cancers(21;0.00965)|Breast(84;0.116)|all_epithelial(62;0.157)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.109)		Aliskiren(DB01258)|Remikiren(DB00212)	TGTCCTGGCTGAGAAAGCCAC	0.577																																																	0													178.0	147.0	158.0					1																	204129706		2203	4300	6503	SO:0001819	synonymous_variant	5972			BC047752	CCDS30981.1	1q32	2008-02-05			ENSG00000143839	ENSG00000143839	3.4.23.15		9958	protein-coding gene	gene with protein product		179820					Standard	NM_000537		Approved		uc001haq.2	P00797	OTTHUMG00000036059	ENST00000272190.8:c.474C>T	1.37:g.204129706G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q6FI38|Q6T5C2	Silent	SNP	pfam_Peptidase_A1,pfam_Propep_A1,superfamily_Peptidase_aspartic,prints_Peptidase_A1	p.L158	ENST00000272190.8	37	c.474	CCDS30981.1	1																																																																																			REN	-	pfam_Peptidase_A1,superfamily_Peptidase_aspartic		0.577	REN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	REN	HGNC	protein_coding	OTTHUMT00000087891.1	G	NM_000537		204129706	-1	no_errors	ENST00000272190	ensembl	human	known	70_37	silent	SNP	0.763	A
REN	5972	genome.wustl.edu	37	1	204131240	204131240	+	Silent	SNP	A	A	G			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr1:204131240A>G	ENST00000272190.8	-	2	178	c.150T>C	c.(148-150)ggT>ggC	p.G50G	REN_ENST00000367195.2_Silent_p.G50G	NM_000537.3	NP_000528.1	P00797	RENI_HUMAN	renin	50					angiotensin maturation (GO:0002003)|beta-amyloid metabolic process (GO:0050435)|cell maturation (GO:0048469)|cellular protein metabolic process (GO:0044267)|cellular response to drug (GO:0035690)|drinking behavior (GO:0042756)|hormone-mediated signaling pathway (GO:0009755)|kidney development (GO:0001822)|male gonad development (GO:0008584)|mesonephros development (GO:0001823)|proteolysis (GO:0006508)|regulation of blood pressure (GO:0008217)|regulation of MAPK cascade (GO:0043408)|renin-angiotensin regulation of aldosterone production (GO:0002018)|response to cAMP (GO:0051591)|response to cGMP (GO:0070305)|response to lipopolysaccharide (GO:0032496)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	aspartic-type endopeptidase activity (GO:0004190)|peptidase activity (GO:0008233)|receptor binding (GO:0005102)			NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(3)|ovary(1)|skin(4)|urinary_tract(1)	19	all_cancers(21;0.00965)|Breast(84;0.116)|all_epithelial(62;0.157)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.109)		Aliskiren(DB01258)|Remikiren(DB00212)	CCATGTCCACACCTCGTTCCT	0.552											OREG0014128	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													166.0	134.0	145.0					1																	204131240		2203	4300	6503	SO:0001819	synonymous_variant	5972			BC047752	CCDS30981.1	1q32	2008-02-05			ENSG00000143839	ENSG00000143839	3.4.23.15		9958	protein-coding gene	gene with protein product		179820					Standard	NM_000537		Approved		uc001haq.2	P00797	OTTHUMG00000036059	ENST00000272190.8:c.150T>C	1.37:g.204131240A>G		Somatic	2142	WXS	Illumina HiSeq	Phase_IV	Q6FI38|Q6T5C2	Silent	SNP	pfam_Peptidase_A1,pfam_Propep_A1,superfamily_Peptidase_aspartic,prints_Peptidase_A1	p.G50	ENST00000272190.8	37	c.150	CCDS30981.1	1																																																																																			REN	-	pfam_Propep_A1,superfamily_Peptidase_aspartic		0.552	REN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	REN	HGNC	protein_coding	OTTHUMT00000087891.1	A	NM_000537		204131240	-1	no_errors	ENST00000272190	ensembl	human	known	70_37	silent	SNP	0.120	G
REPS2	9185	genome.wustl.edu	37	X	17095395	17095395	+	Splice_Site	SNP	T	T	G			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chrX:17095395T>G	ENST00000357277.3	+	13	1552	c.1381T>G	c.(1381-1383)Tct>Gct	p.S461A	REPS2_ENST00000303843.7_Splice_Site_p.S460A|REPS2_ENST00000380064.4_Intron|REPS2_ENST00000469714.1_Intron	NM_001080975.1|NM_004726.2	NP_001074444.1|NP_004717.2	Q8NFH8	REPS2_HUMAN	RALBP1 associated Eps domain containing 2	461					epidermal growth factor receptor signaling pathway (GO:0007173)|protein complex assembly (GO:0006461)	cytoplasm (GO:0005737)	calcium ion binding (GO:0005509)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(2)|skin(3)|urinary_tract(1)	17	Hepatocellular(33;0.183)					TTGCTACAGATCTTACTCTAG	0.498																																																	0													147.0	153.0	151.0					X																	17095395		2203	4300	6503	SO:0001630	splice_region_variant	9185			AF010233	CCDS14180.2, CCDS43919.1	Xp22.2	2013-01-10			ENSG00000169891	ENSG00000169891		"""EF-hand domain containing"""	9963	protein-coding gene	gene with protein product		300317				9422736, 9928989	Standard	NM_001080975		Approved	POB1	uc004cxv.1	Q8NFH8	OTTHUMG00000021199	ENST00000357277.3:c.1380-1T>G	X.37:g.17095395T>G		Somatic		WXS	Illumina HiSeq	Phase_IV	A6PWZ6|O43428|Q5JNZ8|Q8NFI5	Missense_Mutation	SNP	smart_EPS15_homology,pfscan_EF_HAND_2,pfscan_EPS15_homology	p.S461A	ENST00000357277.3	37	c.1381	CCDS14180.2	X	.	.	.	.	.	.	.	.	.	.	T	24.4	4.528266	0.85706	.	.	ENSG00000169891	ENST00000357277;ENST00000380063;ENST00000303843	T;T	0.35789	1.3;1.29	5.58	5.58	0.84498	.	0.000000	0.64402	D	0.000008	T	0.60301	0.2258	M	0.79475	2.455	0.80722	D	1	D;D	0.89917	1.0;0.972	D;P	0.83275	0.996;0.675	T	0.60495	-0.7252	10	0.33141	T	0.24	-15.7802	14.4246	0.67207	0.0:0.0:0.0:1.0	.	460;461	Q8NFH8-4;Q8NFH8	.;REPS2_HUMAN	A	461;461;460	ENSP00000349824:S461A;ENSP00000306033:S460A	ENSP00000306033:S460A	S	+	1	0	REPS2	17005316	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.852000	0.75430	1.866000	0.54105	0.441000	0.28932	TCT	REPS2	-	NULL		0.498	REPS2-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	REPS2	HGNC	protein_coding	OTTHUMT00000316778.1	T	NM_004726	Missense_Mutation	17095395	+1	no_errors	ENST00000357277	ensembl	human	known	70_37	missense	SNP	1.000	G
REST	5978	genome.wustl.edu	37	4	57777658	57777658	+	Missense_Mutation	SNP	C	C	T			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr4:57777658C>T	ENST00000309042.7	+	2	1168	c.854C>T	c.(853-855)tCa>tTa	p.S285L	REST_ENST00000514063.1_3'UTR	NM_001193508.1|NM_005612.4	NP_001180437.1|NP_005603.3	Q13127	REST_HUMAN	RE1-silencing transcription factor	285					cardiac muscle cell myoblast differentiation (GO:0060379)|cellular response to drug (GO:0035690)|cellular response to electrical stimulus (GO:0071257)|cellular response to glucocorticoid stimulus (GO:0071385)|hematopoietic progenitor cell differentiation (GO:0002244)|histone H4 deacetylation (GO:0070933)|negative regulation by host of viral transcription (GO:0043922)|negative regulation of aldosterone biosynthetic process (GO:0032348)|negative regulation of amniotic stem cell differentiation (GO:2000798)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cortisol biosynthetic process (GO:2000065)|negative regulation of dense core granule biogenesis (GO:2000706)|negative regulation of gene expression (GO:0010629)|negative regulation of insulin secretion (GO:0046676)|negative regulation of mesenchymal stem cell differentiation (GO:2000740)|negative regulation of neurogenesis (GO:0050768)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of transcription, DNA-templated (GO:0045893)|potassium ion transmembrane transport (GO:0071805)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|core promoter binding (GO:0001047)|core promoter sequence-specific DNA binding (GO:0001046)|metal ion binding (GO:0046872)|outward rectifier potassium channel activity (GO:0015271)|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 factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(2)|lung(22)|ovary(1)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	50	Glioma(25;0.08)|all_neural(26;0.181)					AACTATTTTTCAGACAGAAAA	0.348																																																	0													52.0	55.0	54.0					4																	57777658		2203	4298	6501	SO:0001583	missense	5978			U13879	CCDS3509.1	4q12	2008-02-05			ENSG00000084093	ENSG00000084093			9966	protein-coding gene	gene with protein product		600571				7871435, 7697725	Standard	NM_005612		Approved	NRSF, XBR	uc003hci.3	Q13127	OTTHUMG00000128770	ENST00000309042.7:c.854C>T	4.37:g.57777658C>T	ENSP00000311816:p.Ser285Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	A2RUE0|B9EGJ0|Q12956|Q12957|Q13134|Q59ER1|Q8IWI3	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.S285L	ENST00000309042.7	37	c.854	CCDS3509.1	4	.	.	.	.	.	.	.	.	.	.	C	27.4	4.829814	0.91036	.	.	ENSG00000084093	ENST00000456010;ENST00000309042;ENST00000358605	T	0.26957	1.7	5.25	5.25	0.73442	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.53938	D	0.000041	T	0.48537	0.1505	L	0.53780	1.695	0.80722	D	1	D;D	0.76494	0.973;0.999	P;D	0.78314	0.801;0.991	T	0.43360	-0.9396	10	0.72032	D	0.01	-6.4151	18.6399	0.91392	0.0:1.0:0.0:0.0	.	285;285	Q13127-2;Q13127	.;REST_HUMAN	L	285	ENSP00000311816:S285L	ENSP00000311816:S285L	S	+	2	0	REST	57472415	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.594000	0.82698	2.749000	0.94314	0.655000	0.94253	TCA	REST	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.348	REST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	REST	HGNC	protein_coding	OTTHUMT00000250691.2	C	NM_005612		57777658	+1	no_errors	ENST00000309042	ensembl	human	known	70_37	missense	SNP	1.000	T
REXO1	57455	genome.wustl.edu	37	19	1819021	1819021	+	Silent	SNP	C	C	T			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr19:1819021C>T	ENST00000170168.4	-	8	2854	c.2760G>A	c.(2758-2760)ctG>ctA	p.L920L	MIR1909_ENST00000411312.1_RNA	NM_020695.3	NP_065746.3	Q8N1G1	REXO1_HUMAN	REX1, RNA exonuclease 1 homolog (S. cerevisiae)	920						nucleus (GO:0005634)	exonuclease activity (GO:0004527)|nucleic acid binding (GO:0003676)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	16		Ovarian(11;1.78e-06)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CCTTACCTTTCAGGTCCTCCA	0.701																																																	0													35.0	35.0	35.0					19																	1819021		2203	4300	6503	SO:0001819	synonymous_variant	57455			AB032964	CCDS32866.1	19p13.3	2014-05-28	2005-08-22	2005-08-22	ENSG00000079313	ENSG00000079313			24616	protein-coding gene	gene with protein product	"""elongin A binding protein 1"""	609614	"""transcription elongation factor B polypeptide 3 binding protein 1"""	TCEB3BP1		10574461	Standard	NM_020695		Approved	EloA-BP1, KIAA1138	uc002lua.4	Q8N1G1	OTTHUMG00000179991	ENST00000170168.4:c.2760G>A	19.37:g.1819021C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q9ULT2	Silent	SNP	pfam_Exonuclease_RNaseT/DNA_pol3,superfamily_RNaseH-like_dom,smart_Exonuclease	p.L920	ENST00000170168.4	37	c.2760	CCDS32866.1	19																																																																																			REXO1	-	NULL		0.701	REXO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	REXO1	HGNC	protein_coding	OTTHUMT00000449200.1	C	NM_020695		1819021	-1	no_errors	ENST00000170168	ensembl	human	known	70_37	silent	SNP	0.880	T
RFX4	5992	genome.wustl.edu	37	12	107083095	107083095	+	Missense_Mutation	SNP	C	C	G			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr12:107083095C>G	ENST00000392842.1	+	7	1036	c.622C>G	c.(622-624)Cac>Gac	p.H208D	RP11-144F15.1_ENST00000551505.1_Intron|RFX4_ENST00000229387.5_Missense_Mutation_p.H114D|RFX4_ENST00000357881.4_Missense_Mutation_p.H217D	NM_213594.2	NP_998759.1	Q33E94	RFX4_HUMAN	regulatory factor X, 4 (influences HLA class II expression)	208					cerebellar cortex morphogenesis (GO:0021696)|cilium assembly (GO:0042384)|dorsal spinal cord development (GO:0021516)|midbrain development (GO:0030901)|negative regulation of smoothened signaling pathway involved in ventral spinal cord patterning (GO:0021914)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of protein processing (GO:0070613)|telencephalon development (GO:0021537)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			NS(2)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(20)|pancreas(1)|upper_aerodigestive_tract(1)	35						GTACAGAACACACTGTCAGAG	0.398																																																	0													165.0	152.0	156.0					12																	107083095		2203	4300	6503	SO:0001583	missense	5992			AB044245	CCDS9106.1, CCDS9108.1, CCDS55880.1	12q24	2008-08-05			ENSG00000111783	ENSG00000111783			9985	protein-coding gene	gene with protein product		603958				8600444, 11682486	Standard	NM_213594		Approved		uc001tlt.3	Q33E94	OTTHUMG00000169173	ENST00000392842.1:c.622C>G	12.37:g.107083095C>G	ENSP00000376585:p.His208Asp	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K5Y0|B2RDW4|Q33DW6|Q33DW7|Q33E95|Q6YM53|Q8MHQ1|Q8NC78|Q8NDF9|Q8SNA1|Q96S80|Q9BXI0	Missense_Mutation	SNP	pfam_DNA-bd_RFX	p.H217D	ENST00000392842.1	37	c.649	CCDS9106.1	12	.	.	.	.	.	.	.	.	.	.	C	27.2	4.807074	0.90623	.	.	ENSG00000111783	ENST00000392842;ENST00000357881;ENST00000266774;ENST00000551640;ENST00000552866;ENST00000229387	T;T;D;D;T	0.90197	-1.03;-1.07;-2.63;-2.34;0.0	5.42	5.42	0.78866	.	0.000000	0.85682	D	0.000000	D	0.95965	0.8686	M	0.85197	2.74	0.80722	D	1	D;D;D;P	0.89917	1.0;0.96;0.96;0.932	D;D;D;P	0.83275	0.996;0.948;0.948;0.84	D	0.96332	0.9244	10	0.87932	D	0	-25.0261	19.2521	0.93929	0.0:1.0:0.0:0.0	.	114;217;217;208	B2RDW4;Q33E94-2;Q33E94-4;Q33E94	.;.;.;RFX4_HUMAN	D	208;217;217;153;114;114	ENSP00000376585:H208D;ENSP00000350552:H217D;ENSP00000448694:H153D;ENSP00000447904:H114D;ENSP00000229387:H114D	ENSP00000229387:H114D	H	+	1	0	RFX4	105607225	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.487000	0.81328	2.542000	0.85734	0.655000	0.94253	CAC	RFX4	-	NULL		0.398	RFX4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	RFX4	HGNC	protein_coding	OTTHUMT00000402707.1	C	NM_032491		107083095	+1	no_errors	ENST00000357881	ensembl	human	known	70_37	missense	SNP	1.000	G
RFX6	222546	genome.wustl.edu	37	6	117241490	117241490	+	Silent	SNP	C	C	T			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr6:117241490C>T	ENST00000332958.2	+	12	1216	c.1200C>T	c.(1198-1200)ctC>ctT	p.L400L		NM_173560.3	NP_775831.2	Q8HWS3	RFX6_HUMAN	regulatory factor X, 6	400					endocrine pancreas development (GO:0031018)|glucose homeostasis (GO:0042593)|pancreatic A cell differentiation (GO:0003310)|pancreatic D cell differentiation (GO:0003311)|pancreatic epsilon cell differentiation (GO:0090104)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of insulin secretion (GO:0050796)|transcription, DNA-templated (GO:0006351)|type B pancreatic cell differentiation (GO:0003309)	nucleus (GO:0005634)	transcription regulatory region DNA binding (GO:0044212)			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(29)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	59						GACCAGCTCTCTTTGACCAGC	0.378																																																	0													196.0	178.0	184.0					6																	117241490		2203	4300	6503	SO:0001819	synonymous_variant	222546			BC039248	CCDS5113.1	6q22.31	2008-08-04	2008-08-04	2008-08-04	ENSG00000185002	ENSG00000185002			21478	protein-coding gene	gene with protein product		612659	"""regulatory factor X domain containing 1"""	RFXDC1			Standard	NM_173560		Approved	MGC33442, dJ955L16.1	uc003pxm.3	Q8HWS3	OTTHUMG00000015449	ENST00000332958.2:c.1200C>T	6.37:g.117241490C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q5T6B3	Silent	SNP	pfam_DNA-bd_RFX	p.L400	ENST00000332958.2	37	c.1200	CCDS5113.1	6																																																																																			RFX6	-	NULL		0.378	RFX6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RFX6	HGNC	protein_coding	OTTHUMT00000041970.2	C	NM_173560		117241490	+1	no_errors	ENST00000332958	ensembl	human	known	70_37	silent	SNP	1.000	T
RFX6	222546	genome.wustl.edu	37	6	117250102	117250102	+	Missense_Mutation	SNP	C	C	T			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr6:117250102C>T	ENST00000332958.2	+	18	2595	c.2579C>T	c.(2578-2580)tCa>tTa	p.S860L		NM_173560.3	NP_775831.2	Q8HWS3	RFX6_HUMAN	regulatory factor X, 6	860					endocrine pancreas development (GO:0031018)|glucose homeostasis (GO:0042593)|pancreatic A cell differentiation (GO:0003310)|pancreatic D cell differentiation (GO:0003311)|pancreatic epsilon cell differentiation (GO:0090104)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of insulin secretion (GO:0050796)|transcription, DNA-templated (GO:0006351)|type B pancreatic cell differentiation (GO:0003309)	nucleus (GO:0005634)	transcription regulatory region DNA binding (GO:0044212)			cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(29)|ovary(1)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	59						ACAGACACATCATCTCCAGTT	0.403																																																	0													139.0	120.0	126.0					6																	117250102		2203	4300	6503	SO:0001583	missense	222546			BC039248	CCDS5113.1	6q22.31	2008-08-04	2008-08-04	2008-08-04	ENSG00000185002	ENSG00000185002			21478	protein-coding gene	gene with protein product		612659	"""regulatory factor X domain containing 1"""	RFXDC1			Standard	NM_173560		Approved	MGC33442, dJ955L16.1	uc003pxm.3	Q8HWS3	OTTHUMG00000015449	ENST00000332958.2:c.2579C>T	6.37:g.117250102C>T	ENSP00000332208:p.Ser860Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	Q5T6B3	Missense_Mutation	SNP	pfam_DNA-bd_RFX	p.S860L	ENST00000332958.2	37	c.2579	CCDS5113.1	6	.	.	.	.	.	.	.	.	.	.	C	14.16	2.452521	0.43531	.	.	ENSG00000185002	ENST00000332958	T	0.56103	0.48	5.63	4.75	0.60458	.	1.048580	0.07439	N	0.896960	T	0.23133	0.0559	N	0.17082	0.46	0.24107	N	0.995853	B	0.02656	0.0	B	0.04013	0.001	T	0.39272	-0.9622	10	0.44086	T	0.13	0.1491	15.3161	0.74078	0.0:0.9316:0.0:0.0684	.	860	Q8HWS3	RFX6_HUMAN	L	860	ENSP00000332208:S860L	ENSP00000332208:S860L	S	+	2	0	RFX6	117356795	0.507000	0.26146	0.054000	0.19295	0.835000	0.47333	4.148000	0.58085	1.487000	0.48415	0.655000	0.94253	TCA	RFX6	-	NULL		0.403	RFX6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RFX6	HGNC	protein_coding	OTTHUMT00000041970.2	C	NM_173560		117250102	+1	no_errors	ENST00000332958	ensembl	human	known	70_37	missense	SNP	0.486	T
GBA2	57704	genome.wustl.edu	37	9	35749827	35749827	+	5'Flank	SNP	C	C	T			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr9:35749827C>T	ENST00000378103.3	-	0	0				GBA2_ENST00000378094.4_5'Flank|RGP1_ENST00000456972.2_Silent_p.T65T|RGP1_ENST00000378078.4_Silent_p.T25T|GBA2_ENST00000545786.1_5'UTR	NM_020944.2	NP_065995.1	Q9HCG7	GBA2_HUMAN	glucosidase, beta (bile acid) 2						bile acid metabolic process (GO:0008206)|cell death (GO:0008219)|central nervous system neuron development (GO:0021954)|glucosylceramide catabolic process (GO:0006680)|glycoside catabolic process (GO:0016139)|glycosphingolipid metabolic process (GO:0006687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|smooth endoplasmic reticulum (GO:0005790)	beta-glucosidase activity (GO:0008422)|glucosylceramidase activity (GO:0004348)			NS(1)|kidney(3)|large_intestine(5)|lung(5)|ovary(4)|skin(3)	21	all_epithelial(49;0.167)		Lung(28;0.00416)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			GTGTAGTGACCGTCACCAACC	0.582																																																	0													60.0	64.0	62.0					9																	35749827		2007	4174	6181	SO:0001631	upstream_gene_variant	9827			AJ309567	CCDS6589.1	9p13.2	2013-09-11			ENSG00000070610	ENSG00000070610			18986	protein-coding gene	gene with protein product	"""bile acid beta-glucosidase"", ""non-lysosomal glucosylceramidase"""	609471	"""spastic paraplegia 46 (autosomal recessive)"""	SPG46		11489889, 23332916, 23332917	Standard	NM_020944		Approved	KIAA1605, AD035, DKFZp762K054	uc003zxw.3	Q9HCG7	OTTHUMG00000021024		9.37:g.35749827C>T	Exception_encountered	Somatic		WXS	Illumina HiSeq	Phase_IV	D3DRP2|Q5TCV6|Q96A51|Q96LY1|Q96SJ2|Q9H2L8	Silent	SNP	pfam_Rgp1	p.T65	ENST00000378103.3	37	c.195	CCDS6589.1	9																																																																																			RGP1	-	NULL		0.582	GBA2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	RGP1	HGNC	protein_coding	OTTHUMT00000055456.1	C	NM_020944		35749827	+1	no_errors	ENST00000456972	ensembl	human	known	70_37	silent	SNP	0.280	T
RGPD2	729857	genome.wustl.edu	37	2	88082561	88082561	+	Missense_Mutation	SNP	C	C	G			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr2:88082561C>G	ENST00000398146.3	-	20	4204	c.3982G>C	c.(3982-3984)Gaa>Caa	p.E1328Q	RGPD2_ENST00000494592.1_5'Flank|RGPD2_ENST00000327544.6_Missense_Mutation_p.E585Q|RGPD2_ENST00000420840.2_Missense_Mutation_p.E1320Q			P0DJD1	RGPD2_HUMAN	RANBP2-like and GRIP domain containing 2	1328	RanBD1 2. {ECO:0000255|PROSITE- ProRule:PRU00164}.				protein targeting to Golgi (GO:0000042)					breast(1)|pancreas(1)	2						ACAACAGGTTCAAAGTACTGT	0.398																																																	0													18.0	13.0	14.0					2																	88082561		1787	3674	5461	SO:0001583	missense	729857				CCDS42710.1, CCDS42710.2	2p11.2	2013-01-10			ENSG00000185304	ENSG00000185304		"""Tetratricopeptide (TTC) repeat domain containing"""	32415	protein-coding gene	gene with protein product		612705				15710750, 15815621	Standard	NM_001078170		Approved	RGP2, RANBP2L2		P0DJD1	OTTHUMG00000153276	ENST00000398146.3:c.3982G>C	2.37:g.88082561C>G	ENSP00000381214:p.Glu1328Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	P0C839|Q68DN6|Q6V1X0	Missense_Mutation	SNP	pfam_Ran_bind_dom,pfam_GRIP,pfam_TPR_2,pfam_TPR-1,superfamily_GRIP,smart_TPR_repeat,smart_Ran_bind_dom,smart_GRIP,pfscan_GRIP,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Ran_bind_dom	p.E1328Q	ENST00000398146.3	37	c.3982	CCDS42710.2	2	.	.	.	.	.	.	.	.	.	.	.	13.96	2.392366	0.42410	.	.	ENSG00000185304	ENST00000398146;ENST00000420840;ENST00000469984;ENST00000327544	T;T;T	0.45668	0.9;0.89;2.04	2.35	2.35	0.29111	.	.	.	.	.	T	0.55940	0.1952	M	0.64997	1.995	0.37303	D	0.908773	D	0.53619	0.961	D	0.66351	0.943	T	0.61554	-0.7039	9	0.48119	T	0.1	-36.2617	10.4068	0.44266	0.0:1.0:0.0:0.0	.	1328	B4DYH0	.	Q	1328;1320;239;585	ENSP00000381214:E1328Q;ENSP00000413275:E1320Q;ENSP00000332727:E585Q	ENSP00000332727:E585Q	E	-	1	0	RGPD2	87863676	1.000000	0.71417	1.000000	0.80357	0.846000	0.48090	7.580000	0.82523	1.313000	0.45069	0.184000	0.17185	GAA	RGPD2	-	smart_Ran_bind_dom,pfscan_Ran_bind_dom		0.398	RGPD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RGPD2	HGNC	protein_coding	OTTHUMT00000330534.2	C	NM_001078170		88082561	-1	no_errors	ENST00000398146	ensembl	human	known	70_37	missense	SNP	1.000	G
RGPD4	285190	genome.wustl.edu	37	2	108443524	108443524	+	Missense_Mutation	SNP	G	G	A			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr2:108443524G>A	ENST00000408999.3	+	1	132	c.55G>A	c.(55-57)Gcc>Acc	p.A19T	RGPD4_ENST00000354986.4_Missense_Mutation_p.A19T|AC096655.2_ENST00000457647.2_lincRNA	NM_182588.2	NP_872394.2	Q7Z3J3	RGPD4_HUMAN	RANBP2-like and GRIP domain containing 4	19					protein targeting to Golgi (GO:0000042)					breast(1)|endometrium(7)|kidney(4)|lung(23)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(3)	43						GCAGGGCTCCGCCCCGTCGCC	0.711																																																	0													41.0	61.0	55.0					2																	108443524		692	1590	2282	SO:0001583	missense	285190			BX537861	CCDS46381.1	2q12.3	2013-01-10			ENSG00000196862	ENSG00000196862		"""Tetratricopeptide (TTC) repeat domain containing"""	32417	protein-coding gene	gene with protein product		612707				15710750, 15815621	Standard	NM_182588		Approved	RGP4, DKFZp686P0288	uc010ywk.2	Q7Z3J3	OTTHUMG00000153208	ENST00000408999.3:c.55G>A	2.37:g.108443524G>A	ENSP00000386810:p.Ala19Thr	Somatic		WXS	Illumina HiSeq	Phase_IV	B9A029	Missense_Mutation	SNP	pfam_Ran_bind_dom,pfam_GRIP,pfam_TPR-1,pfam_TPR_2,superfamily_GRIP,smart_TPR_repeat,smart_Ran_bind_dom,smart_GRIP,pfscan_GRIP,pfscan_TPR_repeat,pfscan_TPR-contain_dom,pfscan_Ran_bind_dom	p.A19T	ENST00000408999.3	37	c.55	CCDS46381.1	2	.	.	.	.	.	.	.	.	.	.	-	2.675	-0.276682	0.05679	.	.	ENSG00000196862	ENST00000354986;ENST00000408999	T;T	0.39406	1.08;1.08	2.33	1.42	0.22433	.	.	.	.	.	T	0.21307	0.0513	N	0.14661	0.345	0.09310	N	0.999993	B	0.26120	0.142	B	0.10450	0.005	T	0.18023	-1.0350	9	0.25106	T	0.35	0.0	6.4478	0.21885	0.1575:0.0:0.8425:0.0	.	19	Q7Z3J3	RGPD4_HUMAN	T	19	ENSP00000347081:A19T;ENSP00000386810:A19T	ENSP00000347081:A19T	A	+	1	0	RGPD4	107809956	0.043000	0.20138	0.078000	0.20375	0.008000	0.06430	1.422000	0.34826	0.098000	0.17522	-1.139000	0.01908	GCC	RGPD4	-	NULL		0.711	RGPD4-001	NOVEL	not_best_in_genome_evidence|basic|appris_candidate|CCDS	protein_coding	RGPD4	HGNC	protein_coding	OTTHUMT00000330096.2	G	XM_496581		108443524	+1	no_errors	ENST00000354986	ensembl	human	known	70_37	missense	SNP	0.521	A
RHOT1	55288	genome.wustl.edu	37	17	30520179	30520179	+	Missense_Mutation	SNP	G	G	A			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr17:30520179G>A	ENST00000333942.6	+	10	903	c.664G>A	c.(664-666)Gct>Act	p.A222T	RHOT1_ENST00000358365.3_Missense_Mutation_p.A222T|RHOT1_ENST00000545287.2_Missense_Mutation_p.A222T|RHOT1_ENST00000583994.1_Missense_Mutation_p.A95T|RHOT1_ENST00000581094.1_Missense_Mutation_p.A222T|RHOT1_ENST00000394692.2_Missense_Mutation_p.A222T|RHOT1_ENST00000354266.3_Missense_Mutation_p.A201T|RHOT1_ENST00000580976.1_3'UTR	NM_018307.3	NP_060777.3	Q8IXI2	MIRO1_HUMAN	ras homolog family member T1	222					cellular homeostasis (GO:0019725)|mitochondrial outer membrane permeabilization (GO:0097345)|mitochondrion transport along microtubule (GO:0047497)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|integral component of mitochondrial outer membrane (GO:0031307)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)			NS(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(10)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	28		Myeloproliferative disorder(56;0.0255)|Breast(31;0.116)|Ovarian(249;0.182)				CACTCCATTAGCTCCTCAAGC	0.348																																																	0													93.0	88.0	90.0					17																	30520179		2203	4300	6503	SO:0001583	missense	55288			AJ517412	CCDS32610.1, CCDS32611.1, CCDS32612.1, CCDS74030.1, CCDS74031.1	17q11.2-q12	2013-01-10	2012-02-27	2004-03-24		ENSG00000126858		"""EF-hand domain containing"""	21168	protein-coding gene	gene with protein product	"""mitochondrial Rho (MIRO) GTPase 1"""	613888	"""ras homolog gene family, member T1"""	ARHT1		12482879	Standard	NM_001033567		Approved	MIRO-1, FLJ11040	uc002hgw.3	Q8IXI2		ENST00000333942.6:c.664G>A	17.37:g.30520179G>A	ENSP00000334724:p.Ala222Thr	Somatic		WXS	Illumina HiSeq	Phase_IV	A4FVB6|A6NFV0|B4DG48|J9JIH9|Q6NUR3|Q6P9F8|Q6PJG1|Q6YMW8|Q86UB0|Q8IW28|Q8IXJ7|Q9H067|Q9H9N8|Q9NUZ2	Missense_Mutation	SNP	pfam_MIRO-like,pfam_EF_hand_assoc_2,pfam_EF_hand_assoc_1,pfam_Small_GTPase,pfam_Small_GTPase_ARF/SAR,pfam_SRP_receptor_beta_su,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Rho,smart_EF_hand_Ca-bd,pirsf_Small_GTPase_Miro,pfscan_EF_HAND_2,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.A222T	ENST00000333942.6	37	c.664	CCDS32612.1	17	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.57|18.57	3.653609|3.653609	0.67472|0.67472	.|.	.|.	ENSG00000126858|ENSG00000126858	ENST00000545287|ENST00000358365;ENST00000354266;ENST00000394692;ENST00000333942	.|T;T;T	.|0.42131	.|0.98;0.98;0.98	5.59|5.59	5.59|5.59	0.84812|0.84812	.|EF hand associated, type-2 (1);EF-hand-like domain (1);	.|0.204155	.|0.51477	.|D	.|0.000098	.|T	.|0.53142	.|0.1778	L|L	0.41027|0.41027	1.25|1.25	0.80722|0.80722	D|D	1|1	.|D;B;B;B	.|0.61697	.|0.99;0.119;0.2;0.167	.|P;B;B;B	.|0.61533	.|0.89;0.062;0.089;0.053	.|T	.|0.34279	.|-0.9835	.|10	.|0.19590	.|T	.|0.45	.|-13.5678	19.5908|19.5908	0.95509|0.95509	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|222;222;222;222	.|Q8IXI2-2;Q8IXI2;Q8IXI2-5;Q8IXI2-3	.|.;MIRO1_HUMAN;.;.	.|T	-1|222	.|ENSP00000351132:A222T;ENSP00000378184:A222T;ENSP00000334724:A222T	.|ENSP00000334724:A222T	.|A	+|+	.|1	.|0	RHOT1|RHOT1	27544292|27544292	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	7.881000|7.881000	0.87252|0.87252	2.627000|2.627000	0.88993|0.88993	0.467000|0.467000	0.42956|0.42956	.|GCT	RHOT1	-	pfam_EF_hand_assoc_2,pirsf_Small_GTPase_Miro		0.348	RHOT1-001	KNOWN	basic|CCDS	protein_coding	RHOT1	HGNC	protein_coding	OTTHUMT00000447097.1	G	NM_018307		30520179	+1	no_errors	ENST00000358365	ensembl	human	known	70_37	missense	SNP	1.000	A
RHPN1	114822	genome.wustl.edu	37	8	144458729	144458729	+	Missense_Mutation	SNP	G	G	A	rs553239044		TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr8:144458729G>A	ENST00000289013.6	+	3	312	c.211G>A	c.(211-213)Gcc>Acc	p.A71T		NM_052924.2	NP_443156.2	Q8TCX5	RHPN1_HUMAN	rhophilin, Rho GTPase binding protein 1	71					signal transduction (GO:0007165)		small GTPase regulator activity (GO:0005083)			endometrium(1)|large_intestine(1)|lung(7)	9	all_cancers(97;7.39e-11)|all_epithelial(106;5.44e-09)|Lung NSC(106;0.000167)|all_lung(105;0.000459)|Ovarian(258;0.0212)|Acute lymphoblastic leukemia(118;0.155)		Colorectal(110;0.107)|BRCA - Breast invasive adenocarcinoma(115;0.156)			AGAGACGGTCGCCCTGGAGCT	0.672													G|||	1	0.000199681	0.0008	0.0	5008	,	,		17557	0.0		0.0	False		,,,				2504	0.0																0													26.0	31.0	30.0					8																	144458729		2161	4262	6423	SO:0001583	missense	114822			AB067516	CCDS47927.1	8q24.3	2003-02-06			ENSG00000158106	ENSG00000158106			19973	protein-coding gene	gene with protein product		601031				11572484	Standard	NM_052924		Approved	KIAA1929, RHPN, ODF5	uc003yyb.3	Q8TCX5	OTTHUMG00000165006	ENST00000289013.6:c.211G>A	8.37:g.144458729G>A	ENSP00000289013:p.Ala71Thr	Somatic		WXS	Illumina HiSeq	Phase_IV	Q8TAV1|Q96PV9	Missense_Mutation	SNP	pfam_BRO1_dom,pfam_HR1_rho-bd,pfam_PDZ,superfamily_PDZ,superfamily_HR1_rho-bd,smart_HR1_rho-bd,smart_PDZ,pfscan_BRO1_dom,pfscan_PDZ	p.A71T	ENST00000289013.6	37	c.211	CCDS47927.1	8	.	.	.	.	.	.	.	.	.	.	g	17.30	3.353959	0.61293	.	.	ENSG00000158106	ENST00000289013	T	0.17691	2.26	3.93	3.05	0.35203	.	0.061993	0.64402	D	0.000004	T	0.38134	0.1029	M	0.78456	2.415	0.51767	D	0.99993	D	0.89917	1.0	D	0.70016	0.967	T	0.08868	-1.0701	10	0.41790	T	0.15	-8.7304	10.5033	0.44819	0.0977:0.0:0.9023:0.0	.	71	Q8TCX5-2	.	T	71	ENSP00000289013:A71T	ENSP00000289013:A71T	A	+	1	0	RHPN1	144529872	1.000000	0.71417	0.362000	0.25862	0.337000	0.28794	5.436000	0.66538	0.626000	0.30322	0.306000	0.20318	GCC	RHPN1	-	pfam_HR1_rho-bd,superfamily_HR1_rho-bd,smart_HR1_rho-bd		0.672	RHPN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RHPN1	HGNC	protein_coding	OTTHUMT00000381417.1	G			144458729	+1	no_errors	ENST00000289013	ensembl	human	known	70_37	missense	SNP	1.000	A
RIF1	55183	genome.wustl.edu	37	2	152266964	152266964	+	Silent	SNP	C	C	T			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr2:152266964C>T	ENST00000243326.5	+	1	510	c.27C>T	c.(25-27)ctC>ctT	p.L9L	RIF1_ENST00000433166.2_Silent_p.L9L|RIF1_ENST00000430328.2_Silent_p.L9L|RIF1_ENST00000444746.2_Silent_p.L9L|RIF1_ENST00000428287.2_Silent_p.L9L|RIF1_ENST00000453091.2_Silent_p.L9L			Q9Y581	INSL6_HUMAN	replication timing regulatory factor 1	0					fertilization (GO:0009566)|male gonad development (GO:0008584)|negative regulation of apoptotic process (GO:0043066)|sperm motility (GO:0030317)|spermatid development (GO:0007286)	extracellular region (GO:0005576)	hormone activity (GO:0005179)			NS(2)|breast(8)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(19)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	97				BRCA - Breast invasive adenocarcinoma(221;0.0429)		AGAGCCCCCTCGCGCCGCTGT	0.652											OREG0015013	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													27.0	32.0	30.0					2																	152266964		2203	4300	6503	SO:0001819	synonymous_variant	55183			AK022932	CCDS2194.1, CCDS54406.1	2q23.3	2014-06-02	2014-06-02		ENSG00000080345	ENSG00000080345			23207	protein-coding gene	gene with protein product		608952	"""RAP1 interacting factor homolog (yeast)"""			15342490, 15042697, 22850674	Standard	NM_018151		Approved	FLJ12870, FLJ10599	uc002txm.3	Q5UIP0	OTTHUMG00000131886	ENST00000243326.5:c.27C>T	2.37:g.152266964C>T		Somatic	1746	WXS	Illumina HiSeq	Phase_IV	A0AVS0|Q9NS16	Silent	SNP	pfam_Rif1_N,superfamily_ARM-type_fold	p.L9	ENST00000243326.5	37	c.27	CCDS2194.1	2																																																																																			RIF1	-	superfamily_ARM-type_fold		0.652	RIF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RIF1	HGNC	protein_coding	OTTHUMT00000254836.3	C			152266964	+1	no_errors	ENST00000243326	ensembl	human	known	70_37	silent	SNP	0.010	T
RLIM	51132	genome.wustl.edu	37	X	73811719	73811719	+	Silent	SNP	A	A	C			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chrX:73811719A>C	ENST00000332687.6	-	4	1649	c.1431T>G	c.(1429-1431)ccT>ccG	p.P477P	RLIM_ENST00000349225.2_Silent_p.P477P	NM_016120.3	NP_057204.2	Q9NVW2	RNF12_HUMAN	ring finger protein, LIM domain interacting	477	Poly-Ser.|Ser-rich.				negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|protein ubiquitination (GO:0016567)|random inactivation of X chromosome (GO:0060816)|transcription, DNA-templated (GO:0006351)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	ligase activity (GO:0016874)|transcription corepressor activity (GO:0003714)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(14)|ovary(2)|prostate(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						aactggaactaggactggaac	0.488																																					Esophageal Squamous(169;1899 1923 14997 18818 32118)												0													36.0	34.0	35.0					X																	73811719		2203	4300	6503	SO:0001819	synonymous_variant	51132			AF155109	CCDS14427.1	Xq13-q21	2013-01-09	2009-02-17	2009-02-17	ENSG00000131263	ENSG00000131263		"""RING-type (C3HC4) zinc fingers"""	13429	protein-coding gene	gene with protein product	"""ring zinc finger protein NY-REN-43antigen"", ""LIM domain interacting ring finger protein"""	300379	"""ring finger protein 12"""	RNF12		10508479	Standard	NM_016120		Approved	NY-REN-43, MGC15161	uc004ebw.3	Q9NVW2	OTTHUMG00000021859	ENST00000332687.6:c.1431T>G	X.37:g.73811719A>C		Somatic		WXS	Illumina HiSeq	Phase_IV	B2RBQ1|D3DTE0|Q96D38|Q9Y598	Silent	SNP	pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING	p.P477	ENST00000332687.6	37	c.1431	CCDS14427.1	X																																																																																			RLIM	-	NULL		0.488	RLIM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RLIM	HGNC	protein_coding	OTTHUMT00000057268.1	A	NM_016120		73811719	-1	no_errors	ENST00000332687	ensembl	human	known	70_37	silent	SNP	1.000	C
RNF126	55658	genome.wustl.edu	37	19	648250	648250	+	Missense_Mutation	SNP	T	T	A			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr19:648250T>A	ENST00000292363.5	-	9	969	c.814A>T	c.(814-816)Agc>Tgc	p.S272C		NM_194460.2	NP_919442.1			ring finger protein 126											lung(1)	1		all_epithelial(18;2.78e-22)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;3.55e-06)|all_lung(49;5.41e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CCCGTGAGGCTTTTTCGGCAG	0.677																																																	0													67.0	56.0	60.0					19																	648250		2190	4292	6482	SO:0001583	missense	55658			BC025374	CCDS12039.1	19p13.3	2013-01-09				ENSG00000070423		"""RING-type (C3HC4) zinc fingers"""	21151	protein-coding gene	gene with protein product		615177					Standard	NM_194460		Approved	FLJ20552	uc010drs.3	Q9BV68		ENST00000292363.5:c.814A>T	19.37:g.648250T>A	ENSP00000292363:p.Ser272Cys	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING	p.S272C	ENST00000292363.5	37	c.814	CCDS12039.1	19	.	.	.	.	.	.	.	.	.	.	N	23.7	4.445429	0.84101	.	.	ENSG00000070423	ENST00000292363;ENST00000340092	T	0.69040	-0.37	4.05	4.05	0.47172	.	0.097602	0.64402	D	0.000001	T	0.80571	0.4648	M	0.78801	2.425	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.83052	-0.0152	10	0.72032	D	0.01	.	12.4797	0.55836	0.0:0.0:0.0:1.0	.	272;124	Q9BV68-2;Q9NPN4	.;.	C	272	ENSP00000292363:S272C	ENSP00000292363:S272C	S	-	1	0	RNF126	599250	1.000000	0.71417	0.934000	0.37439	0.994000	0.84299	6.109000	0.71528	1.601000	0.50113	0.363000	0.22086	AGC	RNF126	-	NULL		0.677	RNF126-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RNF126	HGNC	protein_coding	OTTHUMT00000452104.2	T	NM_017876		648250	-1	no_errors	ENST00000292363	ensembl	human	known	70_37	missense	SNP	1.000	A
RNF152	220441	genome.wustl.edu	37	18	59483144	59483144	+	Missense_Mutation	SNP	T	T	C			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr18:59483144T>C	ENST00000312828.3	-	2	1652	c.553A>G	c.(553-555)Atc>Gtc	p.I185V		NM_173557.2	NP_775828.1	Q8N8N0	RN152_HUMAN	ring finger protein 152	185					apoptotic process (GO:0006915)|protein K48-linked ubiquitination (GO:0070936)	integral component of membrane (GO:0016021)|lysosome (GO:0005764)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(10)|skin(1)	17		Colorectal(73;0.186)				TGAAGCACGATGCCGAGGAGG	0.572																																																	0													134.0	119.0	124.0					18																	59483144		2203	4300	6503	SO:0001583	missense	220441			AK096495	CCDS11978.1	18q21.33	2013-01-09			ENSG00000176641	ENSG00000176641		"""RING-type (C3HC4) zinc fingers"""	26811	protein-coding gene	gene with protein product							Standard	XM_005266650		Approved	FLJ39176	uc002lih.1	Q8N8N0	OTTHUMG00000132774	ENST00000312828.3:c.553A>G	18.37:g.59483144T>C	ENSP00000316628:p.Ile185Val	Somatic		WXS	Illumina HiSeq	Phase_IV	B3KV99|Q52LA4	Missense_Mutation	SNP	pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING	p.I185V	ENST00000312828.3	37	c.553	CCDS11978.1	18	.	.	.	.	.	.	.	.	.	.	T	20.5	3.999926	0.74818	.	.	ENSG00000176641	ENST00000312828	D	0.84873	-1.91	4.69	4.69	0.59074	.	0.000000	0.85682	D	0.000000	D	0.86209	0.5878	L	0.29908	0.895	0.58432	D	0.99999	P	0.37083	0.581	P	0.55824	0.785	D	0.83528	0.0089	10	0.25751	T	0.34	-2.401	14.3157	0.66450	0.0:0.0:0.0:1.0	.	185	Q8N8N0	RN152_HUMAN	V	185	ENSP00000316628:I185V	ENSP00000316628:I185V	I	-	1	0	RNF152	57634124	1.000000	0.71417	1.000000	0.80357	0.931000	0.56810	7.186000	0.77722	1.991000	0.58162	0.460000	0.39030	ATC	RNF152	-	NULL		0.572	RNF152-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RNF152	HGNC	protein_coding	OTTHUMT00000256180.1	T	NM_173557		59483144	-1	no_errors	ENST00000312828	ensembl	human	known	70_37	missense	SNP	1.000	C
RNF2	6045	genome.wustl.edu	37	1	185069364	185069364	+	Silent	SNP	C	C	T			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr1:185069364C>T	ENST00000367510.3	+	7	1230	c.942C>T	c.(940-942)gtC>gtT	p.V314V	RNF2_ENST00000367509.4_Silent_p.V242V	NM_007212.3	NP_009143.1	Q99496	RING2_HUMAN	ring finger protein 2	314					anterior/posterior axis specification (GO:0009948)|gastrulation with mouth forming second (GO:0001702)|histone H2A monoubiquitination (GO:0035518)|histone H2A-K119 monoubiquitination (GO:0036353)|mitotic cell cycle (GO:0000278)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	euchromatin (GO:0000791)|MLL1 complex (GO:0071339)|nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)|sex chromatin (GO:0001739)|ubiquitin ligase complex (GO:0000151)	chromatin binding (GO:0003682)|ligase activity (GO:0016874)|RING-like zinc finger domain binding (GO:0071535)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|endometrium(2)|large_intestine(4)|lung(3)|skin(2)	14		Breast(1374;0.000496)		Colorectal(1306;6.9e-08)|KIRC - Kidney renal clear cell carcinoma(1967;8.12e-06)		TGGAATTGGTCAGTGAGAAAT	0.318																																																	0													56.0	58.0	58.0					1																	185069364		2203	4299	6502	SO:0001819	synonymous_variant	6045			BC012583, Y10571	CCDS1365.1	1q25.3	2013-01-09			ENSG00000121481	ENSG00000121481		"""RING-type (C3HC4) zinc fingers"""	10061	protein-coding gene	gene with protein product		608985				11513855	Standard	XM_005245413		Approved	BAP-1, BAP1, DING, HIPI3, RING1B, RING2	uc001grc.1	Q99496	OTTHUMG00000035391	ENST00000367510.3:c.942C>T	1.37:g.185069364C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B2RBS7|B3KRH1|Q5TEN1|Q5TEN2	Silent	SNP	pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING	p.V314	ENST00000367510.3	37	c.942	CCDS1365.1	1																																																																																			RNF2	-	NULL		0.318	RNF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RNF2	HGNC	protein_coding	OTTHUMT00000085793.1	C	NM_007212		185069364	+1	no_errors	ENST00000367510	ensembl	human	known	70_37	silent	SNP	1.000	T
RNF213	57674	genome.wustl.edu	37	17	78337555	78337555	+	Silent	SNP	C	C	T			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr17:78337555C>T	ENST00000582970.1	+	41	11858	c.11715C>T	c.(11713-11715)agC>agT	p.S3905S	CTD-2047H16.4_ENST00000575034.1_RNA|CTD-2047H16.4_ENST00000572151.1_RNA|RNF213_ENST00000508628.2_Silent_p.S3954S|RNF213_ENST00000336301.6_Silent_p.S1978S	NM_001256071.1	NP_001243000.1	Q63HN8	RN213_HUMAN	ring finger protein 213	3905					ATP catabolic process (GO:0006200)|protein autoubiquitination (GO:0051865)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ATPase activity (GO:0016887)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			TGCAAGGCAGCGGGAGCCTGG	0.617																																																	0													49.0	37.0	41.0					17																	78337555		2203	4300	6503	SO:0001819	synonymous_variant	57674			AK074030	CCDS58606.1	17q25.3	2013-01-09	2007-02-08	2007-02-08		ENSG00000173821		"""RING-type (C3HC4) zinc fingers"""	14539	protein-coding gene	gene with protein product		613768	"""chromosome 17 open reading frame 27"", ""KIAA1618"", ""moyamoya disease 2"", ""Moyamoya disease 2"""	C17orf27, KIAA1618, MYMY2		10997877, 21048783, 21799892	Standard	NM_020954		Approved	KIAA1554, NET57	uc021uen.2	Q63HN8		ENST00000582970.1:c.11715C>T	17.37:g.78337555C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	C9JCP4|D6RI12|F8WKS1|Q658P6|Q69YK7|Q6MZR1|Q8IWF4|Q8IZX1|Q8IZX2|Q8N406|Q8TEU0|Q9H6C9|Q9H6H9|Q9H6P3|Q9H8A9|Q9HCF4|Q9HCL8	Silent	SNP	smart_AAA+_ATPase,smart_Znf_RING,pfscan_Znf_RING	p.S3905	ENST00000582970.1	37	c.11715	CCDS58606.1	17																																																																																			RNF213	-	NULL		0.617	RNF213-020	KNOWN	basic|appris_candidate|CCDS	protein_coding	RNF213	HGNC	protein_coding	OTTHUMT00000443298.1	C	NM_020914		78337555	+1	no_errors	ENST00000582970	ensembl	human	known	70_37	silent	SNP	0.000	T
RNF217	154214	genome.wustl.edu	37	6	125404041	125404042	+	Frame_Shift_Ins	INS	-	-	A	rs372708762		TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr6:125404041_125404042insA	ENST00000521654.2	+	6	1587_1588	c.1587_1588insA	c.(1588-1590)aaafs	p.K530fs	RNF217_ENST00000560949.1_Frame_Shift_Ins_p.K295fs|RNF217_ENST00000368414.2_Frame_Shift_Ins_p.K92fs|RNF217_ENST00000275184.6_Frame_Shift_Ins_p.K174fs|RNF217_ENST00000359704.2_Stop_Codon_Ins			Q8TC41	RN217_HUMAN	ring finger protein 217	530					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	integral component of membrane (GO:0016021)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|skin(1)|urinary_tract(1)	11			LUSC - Lung squamous cell carcinoma(4;0.0263)|Lung(4;0.0828)	GBM - Glioblastoma multiforme(226;0.0162)		ATTGCCTTTGTAAAAAACAGAG	0.366																																																	0																																										SO:0001589	frameshift_variant	154214			BC026087	CCDS5129.1, CCDS69191.1	6q22.33	2014-07-15	2007-08-20	2007-08-20	ENSG00000146373	ENSG00000146373		"""RING-type (C3HC4) zinc fingers"""	21487	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 172"", ""IBR domain containing 1"""	C6orf172, IBRDC1			Standard	NM_001286398		Approved	MGC26996, dJ84N20.1	uc003pzs.3	Q8TC41	OTTHUMG00000015504	ENST00000521654.2:c.1593dupA	6.37:g.125404047_125404047dupA	ENSP00000428698:p.Lys530fs	Somatic		WXS	Illumina HiSeq	Phase_IV	H7C5V4|Q5TCA4|Q9BX48	Frame_Shift_Ins	INS	pfam_Znf_C6HC,smart_Znf_C6HC	p.Q296fs	ENST00000521654.2	37	c.882_883		6																																																																																			RNF217	-	NULL		0.366	RNF217-002	NOVEL	basic|appris_principal	protein_coding	RNF217	HGNC	protein_coding	OTTHUMT00000042063.3	-	NM_152553		125404042	+1	no_errors	ENST00000560949	ensembl	human	known	70_37	frame_shift_ins	INS	1.000:1.000	A
ROBO3	64221	genome.wustl.edu	37	11	124747913	124747913	+	Missense_Mutation	SNP	G	G	T			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr11:124747913G>T	ENST00000397801.1	+	21	3259	c.3067G>T	c.(3067-3069)Gac>Tac	p.D1023Y	ROBO3_ENST00000525482.1_3'UTR|ROBO3_ENST00000538940.1_Missense_Mutation_p.D1001Y|ROBO3_ENST00000543966.1_5'UTR	NM_022370.3	NP_071765.2	Q96MS0	ROBO3_HUMAN	roundabout, axon guidance receptor, homolog 3 (Drosophila)	1023					axon guidance (GO:0007411)|axon midline choice point recognition (GO:0016199)|neuron migration (GO:0001764)	axon (GO:0030424)|integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(17)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	35	all_hematologic(175;0.215)	Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|Breast(109;0.0481)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;1.5e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0296)		TAGCACCATTGACCCAGCGGG	0.627																																																	0													19.0	21.0	20.0					11																	124747913		1884	4095	5979	SO:0001583	missense	64221			AK024697	CCDS44755.1	11q24	2013-02-11	2001-11-28		ENSG00000154134	ENSG00000154134		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	13433	protein-coding gene	gene with protein product		608630	"""roundabout (axon guidance receptor, Drosophila) homolog 3"", ""horizontal gaze palsy with progressive scoliosis"""	HGPPS		15105459	Standard	NM_022370		Approved	RBIG1, FLJ21044, HGPS	uc001qbc.3	Q96MS0	OTTHUMG00000165934	ENST00000397801.1:c.3067G>T	11.37:g.124747913G>T	ENSP00000380903:p.Asp1023Tyr	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Fibronectin_type3,pfam_Ig_V-set,superfamily_Fibronectin_type3,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,pfscan_Fibronectin_type3,pfscan_Ig-like	p.D1023Y	ENST00000397801.1	37	c.3067	CCDS44755.1	11	.	.	.	.	.	.	.	.	.	.	G	28.0	4.884097	0.91814	.	.	ENSG00000154134	ENST00000397801;ENST00000538940	T;T	0.69040	-0.37;-0.36	5.48	5.48	0.80851	.	0.000000	0.41194	D	0.000931	T	0.69415	0.3108	M	0.73217	2.22	0.80722	D	1	B	0.15141	0.012	B	0.14578	0.011	T	0.67753	-0.5589	10	0.87932	D	0	.	19.3464	0.94365	0.0:0.0:1.0:0.0	.	1023	Q96MS0	ROBO3_HUMAN	Y	1023;1001	ENSP00000380903:D1023Y;ENSP00000441797:D1001Y	ENSP00000380903:D1023Y	D	+	1	0	ROBO3	124253123	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.196000	0.77805	2.566000	0.86566	0.655000	0.94253	GAC	ROBO3	-	NULL		0.627	ROBO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ROBO3	HGNC	protein_coding	OTTHUMT00000387091.1	G	XM_370663		124747913	+1	no_errors	ENST00000397801	ensembl	human	known	70_37	missense	SNP	1.000	T
RORC	6097	genome.wustl.edu	37	1	151785499	151785499	+	Silent	SNP	G	G	A			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr1:151785499G>A	ENST00000318247.6	-	9	1316	c.1209C>T	c.(1207-1209)ttC>ttT	p.F403F	RORC_ENST00000356728.6_Silent_p.F382F|RORC_ENST00000480719.1_5'UTR|RORC_ENST00000392697.3_Silent_p.F457F	NM_005060.3	NP_005051.2	P51449	RORG_HUMAN	RAR-related orphan receptor C	403	Ligand-binding.				adipose tissue development (GO:0060612)|cellular response to sterol (GO:0036315)|circadian regulation of gene expression (GO:0032922)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|lymph node development (GO:0048535)|negative regulation of thymocyte apoptotic process (GO:0070244)|Peyer's patch development (GO:0048541)|positive regulation of circadian rhythm (GO:0042753)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|regulation of fat cell differentiation (GO:0045598)|regulation of gamma-delta T cell differentiation (GO:0045586)|regulation of glucose metabolic process (GO:0010906)|regulation of steroid metabolic process (GO:0019218)|regulation of transcription involved in cell fate commitment (GO:0060850)|T cell differentiation in thymus (GO:0033077)|T-helper 17 cell differentiation (GO:0072539)|T-helper cell differentiation (GO:0042093)|transcription initiation from RNA polymerase II promoter (GO:0006367)|xenobiotic metabolic process (GO:0006805)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	direct ligand regulated sequence-specific DNA binding transcription factor activity (GO:0098531)|DNA binding (GO:0003677)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|oxysterol binding (GO:0008142)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(2)|endometrium(4)|large_intestine(1)|lung(6)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.14)		LUSC - Lung squamous cell carcinoma(543;0.181)			GGGAGTGGGAGAAGTCAAAGA	0.552																																																	0													101.0	82.0	89.0					1																	151785499		2203	4300	6503	SO:0001819	synonymous_variant	6097			U16997	CCDS1004.1, CCDS30856.1	1q21	2013-01-16			ENSG00000143365	ENSG00000143365		"""Nuclear hormone receptors"""	10260	protein-coding gene	gene with protein product		602943				7811290	Standard	NM_005060		Approved	RZRG, RORG, NR1F3, TOR	uc001ezh.3	P51449	OTTHUMG00000013053	ENST00000318247.6:c.1209C>T	1.37:g.151785499G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q5SZR9|Q8N5V7|Q8NCY8	Silent	SNP	pfam_Znf_hrmn_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_ROR_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_ThyrH_rcpt	p.F457	ENST00000318247.6	37	c.1371	CCDS1004.1	1																																																																																			RORC	-	pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Nucl_hrmn_rcpt_lig-bd_core		0.552	RORC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RORC	HGNC	protein_coding	OTTHUMT00000036626.1	G			151785499	-1	no_errors	ENST00000392697	ensembl	human	known	70_37	silent	SNP	1.000	A
RP1	6101	genome.wustl.edu	37	8	55534096	55534096	+	Silent	SNP	C	C	T			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr8:55534096C>T	ENST00000220676.1	+	2	718	c.570C>T	c.(568-570)gtC>gtT	p.V190V		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	190	Doublecortin 2. {ECO:0000255|PROSITE- ProRule:PRU00072}.				axoneme assembly (GO:0035082)|cellular response to light stimulus (GO:0071482)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|photoreceptor cell outer segment organization (GO:0035845)|phototransduction, visible light (GO:0007603)|retinal cone cell development (GO:0046549)|retinal rod cell development (GO:0046548)|visual perception (GO:0007601)	axoneme (GO:0005930)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|photoreceptor connecting cilium (GO:0032391)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)	microtubule binding (GO:0008017)			NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			TGACAGAGGTCATGCAGCGCC	0.582																																					Colon(91;1014 1389 7634 14542 40420)												0													121.0	124.0	123.0					8																	55534096		2203	4300	6503	SO:0001819	synonymous_variant	6101			AF146592	CCDS6160.1	8q12.1	2013-01-08				ENSG00000104237			10263	protein-coding gene	gene with protein product		603937				1783394	Standard	NM_006269		Approved	DCDC4A	uc003xsd.1	P56715		ENST00000220676.1:c.570C>T	8.37:g.55534096C>T		Somatic		WXS	Illumina HiSeq	Phase_IV		Silent	SNP	pfam_Doublecortin_dom,superfamily_Doublecortin_dom,smart_Doublecortin_dom,pfscan_Doublecortin_dom	p.V190	ENST00000220676.1	37	c.570	CCDS6160.1	8																																																																																			RP1	-	pfam_Doublecortin_dom,superfamily_Doublecortin_dom,smart_Doublecortin_dom,pfscan_Doublecortin_dom		0.582	RP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RP1	HGNC	protein_coding	OTTHUMT00000378532.2	C	NM_006269		55534096	+1	no_errors	ENST00000220676	ensembl	human	known	70_37	silent	SNP	0.368	T
RPGRIP1	57096	genome.wustl.edu	37	14	21790060	21790060	+	Missense_Mutation	SNP	T	T	A			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr14:21790060T>A	ENST00000400017.2	+	13	1659	c.1659T>A	c.(1657-1659)gaT>gaA	p.D553E	RPGRIP1_ENST00000307974.4_5'Flank|RPGRIP1_ENST00000382933.4_Missense_Mutation_p.D195E|RPGRIP1_ENST00000206660.6_Missense_Mutation_p.D553E|RPGRIP1_ENST00000556336.1_Missense_Mutation_p.D526E|RPGRIP1_ENST00000553500.1_3'UTR|RPGRIP1_ENST00000557771.1_Missense_Mutation_p.D526E	NM_020366.3	NP_065099.3	Q96KN7	RPGR1_HUMAN	retinitis pigmentosa GTPase regulator interacting protein 1	553					eye photoreceptor cell development (GO:0042462)|response to stimulus (GO:0050896)|retina development in camera-type eye (GO:0060041)|visual perception (GO:0007601)	axoneme (GO:0005930)|nonmotile primary cilium (GO:0031513)				breast(3)|endometrium(2)|kidney(4)|large_intestine(11)|lung(10)|ovary(4)|pancreas(1)|prostate(3)|stomach(1)	39	all_cancers(95;0.0017)	all_cancers(140;0.0973)	Epithelial(56;6.24e-07)|all cancers(55;6.56e-06)	GBM - Glioblastoma multiforme(265;0.00888)		ATAATAGAGATCACAAAGAAA	0.398																																																	0													87.0	83.0	84.0					14																	21790060		1887	4108	5995	SO:0001583	missense	57096			AF227257	CCDS45080.1	14q11.2	2013-06-06			ENSG00000092200	ENSG00000092200			13436	protein-coding gene	gene with protein product		605446		RPGRIP		10958647, 10958648	Standard	NM_020366		Approved	RGI1, LCA6, CORD13	uc001wag.3	Q96KN7	OTTHUMG00000170758	ENST00000400017.2:c.1659T>A	14.37:g.21790060T>A	ENSP00000382895:p.Asp553Glu	Somatic		WXS	Illumina HiSeq	Phase_IV	Q7Z2W6|Q8IXV5|Q96QA8|Q9HB94|Q9HB95|Q9HBK6|Q9NR40	Missense_Mutation	SNP	pfam_DUF3250,superfamily_C2_Ca/lipid-bd_dom_CaLB	p.D553E	ENST00000400017.2	37	c.1659	CCDS45080.1	14	.	.	.	.	.	.	.	.	.	.	T	12.98	2.099411	0.37048	.	.	ENSG00000092200	ENST00000556336;ENST00000557771;ENST00000400017;ENST00000206660;ENST00000382933;ENST00000555587;ENST00000554303	T;T;T;T;T;T;T	0.76060	0.39;-0.53;-0.51;-0.51;0.01;-0.87;-0.99	4.58	-5.62	0.02481	.	0.243565	0.40302	N	0.001128	T	0.51924	0.1703	L	0.46614	1.455	0.09310	N	1	P;B;P;P	0.46578	0.88;0.015;0.88;0.809	B;B;B;B	0.40285	0.325;0.019;0.325;0.279	T	0.55630	-0.8111	10	0.21014	T	0.42	-5.425	1.1924	0.01868	0.2254:0.1851:0.388:0.2015	.	28;195;169;553	G3V3I7;Q96KN7-4;Q96KN7-5;Q96KN7	.;.;.;RPGR1_HUMAN	E	526;526;553;553;195;28;26	ENSP00000450445:D526E;ENSP00000451219:D526E;ENSP00000382895:D553E;ENSP00000206660:D553E;ENSP00000372391:D195E;ENSP00000451262:D28E;ENSP00000450426:D26E	ENSP00000206660:D553E	D	+	3	2	RPGRIP1	20859900	0.122000	0.22280	0.004000	0.12327	0.340000	0.28889	-0.025000	0.12413	-0.642000	0.05480	0.254000	0.18369	GAT	RPGRIP1	-	NULL		0.398	RPGRIP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RPGRIP1	HGNC	protein_coding	OTTHUMT00000410258.1	T	NM_020366		21790060	+1	no_errors	ENST00000206660	ensembl	human	known	70_37	missense	SNP	0.006	A
RPL6	6128	genome.wustl.edu	37	12	112844564	112844564	+	Missense_Mutation	SNP	C	C	T			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr12:112844564C>T	ENST00000424576.2	-	4	652	c.467G>A	c.(466-468)cGc>cAc	p.R156H	RPL6_ENST00000202773.9_Missense_Mutation_p.R156H	NM_001024662.1	NP_001019833.1	Q02878	RL6_HUMAN	ribosomal protein L6	156					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of transcription, DNA-templated (GO:0006355)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|focal adhesion (GO:0005925)|membrane (GO:0016020)|nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			cervix(1)|large_intestine(6)|lung(3)	10						GCCCCTGTGGCGTCCAGTGAG	0.572																																																	0													41.0	35.0	37.0					12																	112844564		2203	4300	6503	SO:0001583	missense	6128			X69391	CCDS9162.1	12q24.13	2014-06-05				ENSG00000089009		"""L ribosomal proteins"""	10362	protein-coding gene	gene with protein product		603703		TXREB1		8479925, 8457378	Standard	XM_005253920		Approved	TAXREB107, L6	uc001ttv.3	Q02878		ENST00000424576.2:c.467G>A	12.37:g.112844564C>T	ENSP00000403172:p.Arg156His	Somatic		WXS	Illumina HiSeq	Phase_IV	Q2M3Q3|Q8WW97	Missense_Mutation	SNP	pfam_Ribosomal_L6E,pfam_Ribosomal_L6_N,superfamily_Translation_prot_SH3-like	p.R156H	ENST00000424576.2	37	c.467	CCDS9162.1	12	.	.	.	.	.	.	.	.	.	.	C	15.03	2.711351	0.48517	.	.	ENSG00000089009	ENST00000202773;ENST00000424576;ENST00000549923;ENST00000550238;ENST00000549847	T;T	0.37915	1.17;1.17	4.96	4.96	0.65561	Translation protein SH3-like, subgroup (1);	0.043084	0.85682	D	0.000000	T	0.40979	0.1139	M	0.64260	1.97	0.80722	D	1	B	0.18968	0.032	B	0.18263	0.021	T	0.38373	-0.9664	10	0.72032	D	0.01	.	18.2336	0.89942	0.0:1.0:0.0:0.0	.	156	Q02878	RL6_HUMAN	H	156;156;96;45;156	ENSP00000202773:R156H;ENSP00000403172:R156H	ENSP00000202773:R156H	R	-	2	0	RPL6	111328947	1.000000	0.71417	1.000000	0.80357	0.285000	0.27093	7.313000	0.78978	2.308000	0.77769	0.591000	0.81541	CGC	RPL6	-	superfamily_Translation_prot_SH3-like		0.572	RPL6-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	RPL6	HGNC	protein_coding	OTTHUMT00000405422.1	C			112844564	-1	no_errors	ENST00000202773	ensembl	human	known	70_37	missense	SNP	1.000	T
RPH3A	22895	genome.wustl.edu	37	12	113307748	113307748	+	Missense_Mutation	SNP	C	C	T	rs145114678		TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr12:113307748C>T	ENST00000389385.4	+	10	1197	c.700C>T	c.(700-702)Cgc>Tgc	p.R234C	RPH3A_ENST00000420983.2_Missense_Mutation_p.R234C|RPH3A_ENST00000549913.2_3'UTR|RPH3A_ENST00000415485.3_Missense_Mutation_p.R234C|RPH3A_ENST00000447659.2_Missense_Mutation_p.R185C|RPH3A_ENST00000548866.1_Missense_Mutation_p.R185C|RPH3A_ENST00000543106.2_Missense_Mutation_p.R234C|RPH3A_ENST00000551052.1_Missense_Mutation_p.R230C	NM_001143854.1|NM_014954.3	NP_001137326.1|NP_055769.2	Q9Y2J0	RP3A_HUMAN	rabphilin 3A	234	Pro-rich.				intracellular protein transport (GO:0006886)	cell junction (GO:0030054)|membrane (GO:0016020)|synaptic vesicle (GO:0008021)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|phosphatidylinositol phosphate binding (GO:1901981)|transporter activity (GO:0005215)	p.R230C(1)		breast(1)|central_nervous_system(3)|cervix(2)|endometrium(2)|kidney(1)|large_intestine(8)|lung(16)|ovary(3)|prostate(4)|skin(6)|urinary_tract(1)	47				BRCA - Breast invasive adenocarcinoma(302;0.00453)		GCCTCCCGTGCGCAGGGCCTC	0.607																																																	1	Substitution - Missense(1)	endometrium(1)						C	CYS/ARG,CYS/ARG	2,4404	4.2+/-10.8	0,2,2201	73.0	73.0	73.0		700,688	5.7	1.0	12	dbSNP_134	73	0,8600		0,0,4300	yes	missense,missense	RPH3A	NM_001143854.1,NM_014954.3	180,180	0,2,6501	TT,TC,CC		0.0,0.0454,0.0154	probably-damaging,probably-damaging	234/695,230/691	113307748	2,13004	2203	4300	6503	SO:0001583	missense	22895			AB023202	CCDS31904.1, CCDS44979.1	12q24.13	2014-07-02	2014-07-02		ENSG00000089169	ENSG00000089169		"""Synaptotagmins"""	17056	protein-coding gene	gene with protein product		612159	"""rabphilin 3A homolog (mouse)"""			10231032, 7822236	Standard	NM_014954		Approved	KIAA0985, rabphilin, exophilin-1	uc001ttz.3	Q9Y2J0	OTTHUMG00000169713	ENST00000389385.4:c.700C>T	12.37:g.113307748C>T	ENSP00000374036:p.Arg234Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	B7Z3C3|Q96AE0	Missense_Mutation	SNP	pfam_C2_Ca-dep,pfam_Rabphilin3A_effector_Zn-bd,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_Znf_FYVE_PHD,smart_C2_Ca-dep,pfscan_C2_membr_targeting,pfscan_Rab-bd_domain,pfscan_Znf_FYVE-rel,prints_Synaptotagmin,prints_C2_dom	p.R234C	ENST00000389385.4	37	c.700	CCDS44979.1	12	.	.	.	.	.	.	.	.	.	.	C	26.4	4.735982	0.89482	4.54E-4	0.0	ENSG00000089169	ENST00000543106;ENST00000389385;ENST00000447659;ENST00000551052;ENST00000415485;ENST00000548866;ENST00000420983	T;T;T;T;T;T;T	0.63255	-0.03;-0.03;-0.03;-0.03;-0.03;-0.02;-0.03	5.71	5.71	0.89125	.	0.000000	0.64402	D	0.000007	T	0.76047	0.3933	L	0.55481	1.735	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.85130	0.997;0.993;0.993;0.997	T	0.77056	-0.2729	10	0.72032	D	0.01	.	16.7844	0.85570	0.0:1.0:0.0:0.0	.	185;234;234;230	F8VP47;B7Z9Z7;Q9Y2J0;Q9Y2J0-2	.;.;RP3A_HUMAN;.	C	234;234;185;230;234;185;234	ENSP00000440384:R234C;ENSP00000374036:R234C;ENSP00000413254:R185C;ENSP00000448297:R230C;ENSP00000405357:R234C;ENSP00000450347:R185C;ENSP00000408889:R234C	ENSP00000374036:R234C	R	+	1	0	RPH3A	111792131	0.993000	0.37304	0.991000	0.47740	0.734000	0.41952	3.549000	0.53681	2.709000	0.92574	0.655000	0.94253	CGC	RPH3A	-	NULL		0.607	RPH3A-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RPH3A	HGNC	protein_coding	OTTHUMT00000405561.1	C	NM_014954		113307748	+1	no_errors	ENST00000389385	ensembl	human	known	70_37	missense	SNP	1.000	T
RPN1	6184	genome.wustl.edu	37	3	128339366	128339366	+	Missense_Mutation	SNP	C	C	T			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr3:128339366C>T	ENST00000296255.3	-	10	1760	c.1712G>A	c.(1711-1713)cGc>cAc	p.R571H	RPN1_ENST00000497289.1_Missense_Mutation_p.R399H	NM_002950.3	NP_002941.1	P04843	RPN1_HUMAN	ribophorin I	571					cellular protein metabolic process (GO:0044267)|cellular protein modification process (GO:0006464)|gene expression (GO:0010467)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|oligosaccharyltransferase complex (GO:0008250)|rough endoplasmic reticulum (GO:0005791)	dolichyl-diphosphooligosaccharide-protein glycotransferase activity (GO:0004579)|poly(A) RNA binding (GO:0044822)			NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(2)|ovary(2)|stomach(2)	13				GBM - Glioblastoma multiforme(114;0.189)		AGCCACCAGGCGCTCAGCCTC	0.577			T	EVI1	AML																																			Dom	yes		3	3q21.3-q25.2	6184	ribophorin I		L	0													102.0	99.0	100.0					3																	128339366		2203	4300	6503	SO:0001583	missense	6184				CCDS3051.1	3q21.3	2013-03-06			ENSG00000163902	ENSG00000163902			10381	protein-coding gene	gene with protein product	"""oligosaccharyltransferase 1 homolog (S. cerevisiae)"", ""oligosaccharyltransferase complex subunit (non-catalytic)"""	180470					Standard	NM_002950		Approved	OST1	uc003ekr.1	P04843	OTTHUMG00000159691	ENST00000296255.3:c.1712G>A	3.37:g.128339366C>T	ENSP00000296255:p.Arg571His	Somatic		WXS	Illumina HiSeq	Phase_IV	B2R5Z0|D3DNB6|Q68DT1	Missense_Mutation	SNP	pfam_Ribophorin_I	p.R571H	ENST00000296255.3	37	c.1712	CCDS3051.1	3	.	.	.	.	.	.	.	.	.	.	C	35	5.542720	0.96474	.	.	ENSG00000163902	ENST00000296255;ENST00000497289;ENST00000537139;ENST00000545956	.	.	.	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	T	0.72724	0.3496	M	0.73598	2.24	0.80722	D	1	D	0.57571	0.98	P	0.50192	0.634	T	0.76961	-0.2765	9	0.72032	D	0.01	-14.7897	19.4282	0.94754	0.0:1.0:0.0:0.0	.	571	P04843	RPN1_HUMAN	H	571;399;342;545	.	ENSP00000296255:R571H	R	-	2	0	RPN1	129822056	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.172000	0.77604	2.599000	0.87857	0.491000	0.48974	CGC	RPN1	-	NULL		0.577	RPN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPN1	HGNC	protein_coding	OTTHUMT00000356934.2	C	NM_002950		128339366	-1	no_errors	ENST00000296255	ensembl	human	known	70_37	missense	SNP	1.000	T
RPS6KB2	6199	genome.wustl.edu	37	11	67202296	67202296	+	Intron	SNP	C	C	T			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr11:67202296C>T	ENST00000312629.5	+	14	1313				AP003419.16_ENST00000535922.1_RNA	NM_003952.2	NP_003943.2	Q9UBS0	KS6B2_HUMAN	ribosomal protein S6 kinase, 70kDa, polypeptide 2						epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of translational initiation (GO:0045948)|protein kinase B signaling (GO:0043491)|signal transduction (GO:0007165)|translation (GO:0006412)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|peptide binding (GO:0042277)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|ribosomal protein S6 kinase activity (GO:0004711)			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)|prostate(3)|salivary_gland(1)|stomach(2)	25			BRCA - Breast invasive adenocarcinoma(15;3.26e-06)			ATCATGGGGACCTCAGTTCCT	0.637																																																	0																																										SO:0001627	intron_variant	6199			AB019245	CCDS41677.1	11q13.1	2011-04-05	2002-08-29		ENSG00000175634	ENSG00000175634			10437	protein-coding gene	gene with protein product		608939	"""ribosomal protein S6 kinase, 70kD, polypeptide 2"""			9878560, 9804755	Standard	XM_005274164		Approved	p70S6Kb, P70-BETA, STK14B, KLS	uc001old.3	Q9UBS0	OTTHUMG00000167673	ENST00000312629.5:c.1268+131C>T	11.37:g.67202296C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B2RMZ9|B4DML8|O94809|Q9UEC1	RNA	SNP	-	NULL	ENST00000312629.5	37	NULL	CCDS41677.1	11																																																																																			RPS6KB2	-	-		0.637	RPS6KB2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	RPS6KB2	HGNC	protein_coding	OTTHUMT00000395508.1	C	NM_003952		67202296	+1	no_errors	ENST00000531765	ensembl	human	putative	70_37	rna	SNP	0.000	T
RPS6KC1	26750	genome.wustl.edu	37	1	213414589	213414589	+	Silent	SNP	C	C	T			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr1:213414589C>T	ENST00000366960.3	+	11	1920	c.1770C>T	c.(1768-1770)ctC>ctT	p.L590L	RPS6KC1_ENST00000543354.1_Silent_p.L293L|RPS6KC1_ENST00000366959.3_Silent_p.L578L|RPS6KC1_ENST00000490299.1_3'UTR|RPS6KC1_ENST00000543470.1_Silent_p.L378L	NM_012424.3	NP_036556.2	Q96S38	KS6C1_HUMAN	ribosomal protein S6 kinase, 52kDa, polypeptide 1	590					signal transduction (GO:0007165)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)	ATP binding (GO:0005524)|phosphatidylinositol binding (GO:0035091)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(6)|kidney(4)|large_intestine(8)|liver(2)|lung(15)|ovary(3)|prostate(1)|urinary_tract(3)	43				OV - Ovarian serous cystadenocarcinoma(81;0.00705)|all cancers(67;0.016)|GBM - Glioblastoma multiforme(131;0.0663)|Epithelial(68;0.145)		CAGATTCCCTCAGTAGATCAA	0.458																																																	0													43.0	45.0	44.0					1																	213414589		2203	4300	6503	SO:0001819	synonymous_variant	26750			AF037447	CCDS1513.1, CCDS44317.1, CCDS73028.1, CCDS73029.1, CCDS73030.1	1q41	2011-04-05	2002-08-29		ENSG00000136643	ENSG00000136643			10439	protein-coding gene	gene with protein product			"""ribosomal protein S6 kinase, 52kD, polypeptide 1"""			10552933	Standard	XM_005273095		Approved	humS6PKh1	uc010ptr.2	Q96S38	OTTHUMG00000036926	ENST00000366960.3:c.1770C>T	1.37:g.213414589C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B1APS8|B3KVM4|D3DTA4|Q8TDD3|Q9NSF4|Q9UL66	Silent	SNP	pfam_Prot_kinase_cat_dom,pfam_MIT,pfam_Phox,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Phox,smart_Phox,smart_MIT,smart_Ser/Thr_dual-sp_kinase_dom,pfscan_Phox,pfscan_Prot_kinase_cat_dom	p.L590	ENST00000366960.3	37	c.1770	CCDS1513.1	1																																																																																			RPS6KC1	-	NULL		0.458	RPS6KC1-001	KNOWN	basic|CCDS	protein_coding	RPS6KC1	HGNC	protein_coding	OTTHUMT00000089690.3	C	NM_012424		213414589	+1	no_errors	ENST00000366960	ensembl	human	known	70_37	silent	SNP	0.997	T
RPTOR	57521	genome.wustl.edu	37	17	78681708	78681708	+	Missense_Mutation	SNP	G	G	A			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr17:78681708G>A	ENST00000306801.3	+	4	778	c.416G>A	c.(415-417)cGc>cAc	p.R139H	RPTOR_ENST00000537330.1_5'UTR|RPTOR_ENST00000570891.1_Missense_Mutation_p.R139H|RPTOR_ENST00000544334.2_Missense_Mutation_p.R139H	NM_020761.2	NP_065812.1	Q8N122	RPTOR_HUMAN	regulatory associated protein of MTOR, complex 1	139					cell cycle arrest (GO:0007050)|cell growth (GO:0016049)|cellular response to amino acid stimulus (GO:0071230)|cellular response to nutrient levels (GO:0031669)|insulin receptor signaling pathway (GO:0008286)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of TOR signaling (GO:0032008)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|regulation of cell size (GO:0008361)|TOR signaling (GO:0031929)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|TORC1 complex (GO:0031931)	14-3-3 protein binding (GO:0071889)|protein complex binding (GO:0032403)|protein kinase binding (GO:0019901)|RNA polymerase III type 1 promoter DNA binding (GO:0001030)|RNA polymerase III type 2 promoter DNA binding (GO:0001031)|RNA polymerase III type 3 promoter DNA binding (GO:0001032)|TFIIIC-class transcription factor binding (GO:0001156)			breast(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(3)	44						TCCTTACGTCGCAACGCCAAG	0.557																																																	0													70.0	60.0	63.0					17																	78681708		2203	4300	6503	SO:0001583	missense	57521				CCDS11773.1, CCDS54175.1	17q25.3	2013-01-10				ENSG00000141564		"""WD repeat domain containing"""	30287	protein-coding gene	gene with protein product	"""regulatory associated protein of mTOR"""	607130				10718198, 12150926	Standard	NM_001163034		Approved	KOG1, Mip1, KIAA1303, raptor	uc002jyt.1	Q8N122		ENST00000306801.3:c.416G>A	17.37:g.78681708G>A	ENSP00000307272:p.Arg139His	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RN36|C6KEF2|F5H7J5|Q8N4V9|Q8TB32|Q9P2P3	Missense_Mutation	SNP	pfam_HEAT,pfam_WD40_repeat,superfamily_ARM-type_fold,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom,prints_Raptor	p.R139H	ENST00000306801.3	37	c.416	CCDS11773.1	17	.	.	.	.	.	.	.	.	.	.	G	24.8	4.570396	0.86542	.	.	ENSG00000141564	ENST00000306801;ENST00000544334	T;T	0.53857	0.61;0.6	5.31	5.31	0.75309	.	0.000000	0.64402	D	0.000001	T	0.77896	0.4199	M	0.88775	2.98	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.77004	0.989;0.97	T	0.81344	-0.0975	10	0.54805	T	0.06	.	18.975	0.92731	0.0:0.0:1.0:0.0	.	139;139	F5H7J5;Q8N122	.;RPTOR_HUMAN	H	139	ENSP00000307272:R139H;ENSP00000442479:R139H	ENSP00000307272:R139H	R	+	2	0	RPTOR	76296303	1.000000	0.71417	0.151000	0.22473	0.528000	0.34623	9.713000	0.98740	2.485000	0.83878	0.655000	0.94253	CGC	RPTOR	-	prints_Raptor		0.557	RPTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPTOR	HGNC	protein_coding	OTTHUMT00000438125.1	G	NM_020761		78681708	+1	no_errors	ENST00000306801	ensembl	human	known	70_37	missense	SNP	0.906	A
RRBP1	6238	genome.wustl.edu	37	20	17639699	17639699	+	Missense_Mutation	SNP	G	G	A			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr20:17639699G>A	ENST00000377813.1	-	3	1757	c.1454C>T	c.(1453-1455)gCc>gTc	p.A485V	RRBP1_ENST00000360807.4_Intron|RRBP1_ENST00000377807.2_Intron|RRBP1_ENST00000455029.2_Intron|RRBP1_ENST00000246043.4_Missense_Mutation_p.A485V			Q9P2E9	RRBP1_HUMAN	ribosome binding protein 1	485	41 X 10 AA approximate tandem repeats of [TN]-Q-[GSA]-[KRQT]-K-[ATGSV]-[ED]- [GTAS]-[ATIS]-[PQTAS].				osteoblast differentiation (GO:0001649)|protein transport (GO:0015031)|translation (GO:0006412)	endoplasmic reticulum (GO:0005783)|integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|receptor activity (GO:0004872)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|prostate(6)	28						CTGGTTCTGGGCCCCCTCAGC	0.632																																																	0																																										SO:0001583	missense	6238			AB037819	CCDS13128.1	20p12	2012-12-07	2012-12-07		ENSG00000125844	ENSG00000125844			10448	protein-coding gene	gene with protein product		601418	"""ribosome binding protein 1 (dog 180kD homolog)"", ""ribosome binding protein 1 homolog 180kDa (dog)"""			8812507	Standard	NM_001042576		Approved	ES/130, hES	uc002wpw.1	Q9P2E9	OTTHUMG00000031945	ENST00000377813.1:c.1454C>T	20.37:g.17639699G>A	ENSP00000367044:p.Ala485Val	Somatic		WXS	Illumina HiSeq	Phase_IV	A2A2S6|A6NCN6|O75300|O75301|Q5W165|Q96SB2|Q9BWP1|Q9H476	Missense_Mutation	SNP	pfam_Rib_rcpt_KP,superfamily_Ribosome_recyc_fac_dom	p.A485V	ENST00000377813.1	37	c.1454		20	.	.	.	.	.	.	.	.	.	.	G	10.21	1.288170	0.23478	.	.	ENSG00000125844	ENST00000377813;ENST00000246043	T;T	0.43294	0.95;0.95	4.32	0.934	0.19477	.	1.274390	0.06020	N	0.651125	T	0.29945	0.0749	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.32824	-0.9892	7	0.32370	T	0.25	0.0333	4.0456	0.09771	0.0959:0.1589:0.5823:0.1628	.	.	.	.	V	485	ENSP00000367044:A485V;ENSP00000246043:A485V	ENSP00000246043:A485V	A	-	2	0	RRBP1	17587699	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.397000	0.01051	0.532000	0.28657	-0.314000	0.08810	GCC	RRBP1	-	NULL		0.632	RRBP1-002	NOVEL	basic	protein_coding	RRBP1	HGNC	protein_coding	OTTHUMT00000078125.1	G	NM_001042576		17639699	-1	no_errors	ENST00000246043	ensembl	human	known	70_37	missense	SNP	0.000	A
RRH	10692	genome.wustl.edu	37	4	110758730	110758730	+	Missense_Mutation	SNP	G	G	A			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr4:110758730G>A	ENST00000317735.4	+	5	723	c.689G>A	c.(688-690)aGa>aAa	p.R230K		NM_006583.2	NP_006574.1	O14718	OPSX_HUMAN	retinal pigment epithelium-derived rhodopsin homolog	230					G-protein coupled receptor signaling pathway (GO:0007186)|phototransduction (GO:0007602)|protein-chromophore linkage (GO:0018298)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)	G-protein coupled receptor activity (GO:0004930)|photoreceptor activity (GO:0009881)			endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)|pancreas(1)	12		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00109)		TCCCTCAACAGAGACTGGTCA	0.398																																																	0													94.0	79.0	84.0					4																	110758730		2203	4300	6503	SO:0001583	missense	10692			AF012270	CCDS3687.1	4q25	2012-08-08			ENSG00000180245	ENSG00000180245		"""GPCR / Class A : Opsin receptors"""	10450	protein-coding gene	gene with protein product	"""peropsin"""	605224				9275222	Standard	NM_006583		Approved	peropsin	uc003hzv.3	O14718	OTTHUMG00000132045	ENST00000317735.4:c.689G>A	4.37:g.110758730G>A	ENSP00000314992:p.Arg230Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	A1A4V2|Q7RTS4	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Peropsin,prints_GPCR_Rhodpsn	p.R230K	ENST00000317735.4	37	c.689	CCDS3687.1	4	.	.	.	.	.	.	.	.	.	.	G	15.70	2.912135	0.52439	.	.	ENSG00000180245	ENST00000317735	T	0.35605	1.3	5.92	4.1	0.47936	GPCR, rhodopsin-like superfamily (1);	0.369984	0.33144	N	0.005222	T	0.25644	0.0624	L	0.34521	1.04	0.27099	N	0.962661	B	0.21821	0.061	B	0.24974	0.057	T	0.13656	-1.0501	10	0.25106	T	0.35	.	8.5949	0.33710	0.0:0.2312:0.5271:0.2417	.	230	O14718	OPSX_HUMAN	K	230	ENSP00000314992:R230K	ENSP00000314992:R230K	R	+	2	0	RRH	110978179	1.000000	0.71417	0.939000	0.37840	0.985000	0.73830	2.978000	0.49305	1.503000	0.48686	0.585000	0.79938	AGA	RRH	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Peropsin		0.398	RRH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RRH	HGNC	protein_coding	OTTHUMT00000255066.1	G	NM_006583		110758730	+1	no_errors	ENST00000317735	ensembl	human	known	70_37	missense	SNP	1.000	A
RRN3P2	653390	genome.wustl.edu	37	16	29102154	29102154	+	RNA	SNP	T	T	C			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr16:29102154T>C	ENST00000564580.1	+	0	745							A6NIE6	RN3P2_HUMAN	RNA polymerase I transcription factor homolog (S. cerevisiae) pseudogene 2																		ACTACTCAAGTTGGATGTAAG	0.259																																																	0																																												653390					16p11.2	2011-12-02			ENSG00000103472	ENSG00000103472			37619	pseudogene	pseudogene							Standard	NR_003369		Approved		uc002dsf.4	A6NIE6			16.37:g.29102154T>C		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000564580.1	37	NULL		16																																																																																			RRN3P2	-	-		0.259	RRN3P2-001	KNOWN	basic	processed_transcript	RRN3P2	HGNC	pseudogene	OTTHUMT00000433243.1	T	NR_003369		29102154	+1	no_errors	ENST00000427965	ensembl	human	known	70_37	rna	SNP	0.994	C
RSBN1L	222194	genome.wustl.edu	37	7	77326009	77326009	+	Missense_Mutation	SNP	C	C	T			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr7:77326009C>T	ENST00000334955.8	+	1	250	c.223C>T	c.(223-225)Cct>Tct	p.P75S	RSBN1L_ENST00000445288.1_5'Flank|RSBN1L-AS1_ENST00000440088.1_lincRNA	NM_198467.2	NP_940869.2	Q6PCB5	RSBNL_HUMAN	round spermatid basic protein 1-like	75						nucleus (GO:0005634)				central_nervous_system(1)|endometrium(12)|large_intestine(2)|lung(8)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						GCCGGCAGCACCTTCGCCTCA	0.652																																																	0													17.0	26.0	23.0					7																	77326009		1958	4116	6074	SO:0001583	missense	222194			AK124517	CCDS43607.1	7q21.11	2004-08-11			ENSG00000187257	ENSG00000187257			24765	protein-coding gene	gene with protein product						12477932	Standard	NM_198467		Approved	FLJ42526, FLJ45813, MGC71764	uc010ldt.1	Q6PCB5	OTTHUMG00000155517	ENST00000334955.8:c.223C>T	7.37:g.77326009C>T	ENSP00000334040:p.Pro75Ser	Somatic		WXS	Illumina HiSeq	Phase_IV	C9K0P1|Q6ZS58|Q6ZVI9|Q86X48	Missense_Mutation	SNP	NULL	p.P75S	ENST00000334955.8	37	c.223	CCDS43607.1	7	.	.	.	.	.	.	.	.	.	.	C	7.383	0.629170	0.14257	.	.	ENSG00000187257	ENST00000334955	.	.	.	2.97	2.97	0.34412	.	0.648983	0.12154	N	0.494583	T	0.32346	0.0826	N	0.14661	0.345	0.48632	D	0.999687	B	0.21821	0.061	B	0.21917	0.037	T	0.12578	-1.0542	9	0.22109	T	0.4	-1.4199	8.1504	0.31137	0.0:0.7502:0.2498:0.0	.	75	Q6PCB5	RSBNL_HUMAN	S	75	.	ENSP00000334040:P75S	P	+	1	0	RSBN1L	77163945	0.678000	0.27586	0.829000	0.32907	0.149000	0.21700	1.399000	0.34566	1.943000	0.56356	0.313000	0.20887	CCT	RSBN1L	-	NULL		0.652	RSBN1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RSBN1L	HGNC	protein_coding	OTTHUMT00000340455.3	C	NM_198467		77326009	+1	no_errors	ENST00000334955	ensembl	human	known	70_37	missense	SNP	0.642	T
RTP1	132112	genome.wustl.edu	37	3	186917516	186917516	+	Silent	SNP	C	C	T			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr3:186917516C>T	ENST00000312295.4	+	2	480	c.450C>T	c.(448-450)atC>atT	p.I150I	RP11-208N14.4_ENST00000356133.3_RNA	NM_153708.2	NP_714919.2	P59025	RTP1_HUMAN	receptor (chemosensory) transporter protein 1	150					protein insertion into membrane (GO:0051205)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	olfactory receptor binding (GO:0031849)			breast(2)|endometrium(4)|large_intestine(5)|lung(6)|ovary(3)|skin(2)	22	all_cancers(143;5.33e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.56e-18)	GBM - Glioblastoma multiforme(93;0.0269)		AGGAGAACATCGAGGGCCTGG	0.682																																																	0													26.0	26.0	26.0					3																	186917516		2203	4294	6497	SO:0001819	synonymous_variant	132112			BC034744	CCDS3287.2	3q27.3	2014-02-20	2006-11-21		ENSG00000175077	ENSG00000175077		"""Receptor transporter proteins"""	28580	protein-coding gene	gene with protein product	"""receptor transporting protein 1"", ""zinc finger, 3CxxC-type 1"""	609137	"""receptor transporter protein 1"""			16271481, 15550249, 16720576	Standard	NM_153708		Approved	MGC35450, Z3CXXC1	uc003frg.3	P59025	OTTHUMG00000149886	ENST00000312295.4:c.450C>T	3.37:g.186917516C>T		Somatic		WXS	Illumina HiSeq	Phase_IV		Silent	SNP	NULL	p.I150	ENST00000312295.4	37	c.450	CCDS3287.2	3																																																																																			RTP1	-	NULL		0.682	RTP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RTP1	HGNC	protein_coding	OTTHUMT00000313731.2	C	NM_153708		186917516	+1	no_errors	ENST00000312295	ensembl	human	known	70_37	silent	SNP	1.000	T
RTTN	25914	genome.wustl.edu	37	18	67860578	67860578	+	Missense_Mutation	SNP	C	C	G			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr18:67860578C>G	ENST00000255674.6	-	8	1239	c.953G>C	c.(952-954)cGc>cCc	p.R318P	RTTN_ENST00000437017.1_Missense_Mutation_p.R318P|RTTN_ENST00000454359.1_Missense_Mutation_p.R318P	NM_173630.3	NP_775901.3	Q86VV8	RTTN_HUMAN	rotatin	318					determination of left/right symmetry (GO:0007368)	ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)				NS(1)|breast(3)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(35)|ovary(4)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Esophageal squamous(42;0.129)				CTGGCCTGTGCGCCCAACCAC	0.537																																																	0													59.0	61.0	60.0					18																	67860578		1948	4146	6094	SO:0001583	missense	25914			AL117635	CCDS42443.1	18q22.1	2008-08-01				ENSG00000176225			18654	protein-coding gene	gene with protein product		610436				11900971	Standard	NM_173630		Approved	DKFZP434G145	uc002lkp.2	Q86VV8		ENST00000255674.6:c.953G>C	18.37:g.67860578C>G	ENSP00000255674:p.Arg318Pro	Somatic		WXS	Illumina HiSeq	Phase_IV	Q68CS9|Q6ZRL8|Q6ZTK3|Q86TG4|Q8N8N8|Q8TBQ4|Q96IN9|Q9UFJ4	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.R318P	ENST00000255674.6	37	c.953	CCDS42443.1	18	.	.	.	.	.	.	.	.	.	.	C	12.80	2.047252	0.36085	.	.	ENSG00000176225	ENST00000255674;ENST00000454359;ENST00000437017	T;T;T	0.66995	0.5;0.35;-0.24	5.34	4.28	0.50868	Armadillo-type fold (1);	0.077911	0.52532	D	0.000073	T	0.77928	0.4204	L	0.59436	1.845	0.41237	D	0.986615	D;D	0.89917	0.999;1.0	D;D	0.72625	0.955;0.978	T	0.80511	-0.1350	10	0.72032	D	0.01	.	14.902	0.70687	0.0:0.9192:0.0:0.0808	.	318;318	Q86VV8-2;Q86VV8	.;RTTN_HUMAN	P	318	ENSP00000255674:R318P;ENSP00000402352:R318P;ENSP00000399520:R318P	ENSP00000255674:R318P	R	-	2	0	RTTN	66011558	1.000000	0.71417	1.000000	0.80357	0.946000	0.59487	3.856000	0.55964	2.501000	0.84356	0.591000	0.81541	CGC	RTTN	-	superfamily_ARM-type_fold		0.537	RTTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RTTN	HGNC	protein_coding	OTTHUMT00000442988.1	C	NM_173630		67860578	-1	no_errors	ENST00000255674	ensembl	human	known	70_37	missense	SNP	1.000	G
RUNX3	864	genome.wustl.edu	37	1	25254140	25254140	+	Missense_Mutation	SNP	G	G	A			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr1:25254140G>A	ENST00000308873.6	-	2	372	c.364C>T	c.(364-366)Cgc>Tgc	p.R122C	RUNX3_ENST00000338888.3_Missense_Mutation_p.R136C|RUNX3_ENST00000496967.1_5'UTR|RUNX3_ENST00000399916.1_Missense_Mutation_p.R136C|RUNX3_ENST00000540420.1_Missense_Mutation_p.R29C	NM_004350.2	NP_004341.1	Q13761	RUNX3_HUMAN	runt-related transcription factor 3	122	Runt. {ECO:0000255|PROSITE- ProRule:PRU00399}.				axon guidance (GO:0007411)|cell maturation (GO:0048469)|chondrocyte differentiation (GO:0002062)|hair follicle morphogenesis (GO:0031069)|interferon-gamma production (GO:0032609)|negative regulation of cell cycle (GO:0045786)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|peripheral nervous system neuron development (GO:0048935)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|protein phosphorylation (GO:0006468)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)	ATP binding (GO:0005524)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(3)	18		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.000946)|all_lung(284;0.00131)|Ovarian(437;0.00764)|Breast(348;0.0148)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0936)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0419)|OV - Ovarian serous cystadenocarcinoma(117;2.85e-26)|Colorectal(126;4.35e-08)|COAD - Colon adenocarcinoma(152;1.92e-06)|GBM - Glioblastoma multiforme(114;0.000102)|STAD - Stomach adenocarcinoma(196;0.000766)|KIRC - Kidney renal clear cell carcinoma(1967;0.00148)|BRCA - Breast invasive adenocarcinoma(304;0.00173)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.136)		GAGGCATTGCGCAGCTCAGCG	0.632																																																	0													147.0	130.0	136.0					1																	25254140		2203	4300	6503	SO:0001583	missense	864			BC013362	CCDS257.1, CCDS30633.1	1p36	2008-02-05			ENSG00000020633	ENSG00000020633			10473	protein-coding gene	gene with protein product		600210		CBFA3		7835892	Standard	NM_001031680		Approved	AML2, PEBP2A3	uc001bjq.3	Q13761	OTTHUMG00000003316	ENST00000308873.6:c.364C>T	1.37:g.25254140G>A	ENSP00000308051:p.Arg122Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	B1AJV5|Q12969|Q13760	Missense_Mutation	SNP	pfam_AML1/Runt_N,pfam_RunxI,superfamily_p53-like_TF_DNA-bd,pirsf_TF_Runt-rel_RUNX,prints_AML1_Runt,pfscan_AML1/Runt_N	p.R136C	ENST00000308873.6	37	c.406	CCDS257.1	1	.	.	.	.	.	.	.	.	.	.	G	17.19	3.325203	0.60634	.	.	ENSG00000020633	ENST00000399916;ENST00000308873;ENST00000338888;ENST00000540420;ENST00000428150	D;D;D;D	0.99598	-6.26;-6.26;-6.26;-6.26	5.38	5.38	0.77491	Acute myeloid leukemia 1 (AML 1)/Runt (2);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99625	0.9863	M	0.88842	2.985	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.997;0.997	D	0.97825	1.0259	10	0.87932	D	0	-33.332	13.703	0.62620	0.0:0.0:0.8458:0.1542	.	122;136;122	E9PH34;B1AJV5;Q13761	.;.;RUNX3_HUMAN	C	136;122;136;29;122	ENSP00000382800:R136C;ENSP00000308051:R122C;ENSP00000343477:R136C;ENSP00000444872:R29C	ENSP00000308051:R122C	R	-	1	0	RUNX3	25126727	1.000000	0.71417	1.000000	0.80357	0.102000	0.19082	2.075000	0.41538	2.514000	0.84764	0.655000	0.94253	CGC	RUNX3	-	pfam_AML1/Runt_N,superfamily_p53-like_TF_DNA-bd,pirsf_TF_Runt-rel_RUNX,prints_AML1_Runt,pfscan_AML1/Runt_N		0.632	RUNX3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	RUNX3	HGNC	protein_coding	OTTHUMT00000009284.1	G	NM_004350		25254140	-1	no_errors	ENST00000338888	ensembl	human	known	70_37	missense	SNP	1.000	A
RWDD2B	10069	genome.wustl.edu	37	21	30391569	30391569	+	Missense_Mutation	SNP	C	C	G			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr21:30391569C>G	ENST00000493196.1	-	1	130	c.30G>C	c.(28-30)tgG>tgC	p.W10C	RWDD2B_ENST00000486719.1_5'UTR	NM_016940.2	NP_058636.1	P57060	RWD2B_HUMAN	RWD domain containing 2B	10										endometrium(1)|kidney(1)|large_intestine(8)|lung(2)	12						AACCCGGGTTCCATGGCTGCA	0.592																																																	0													57.0	48.0	51.0					21																	30391569		2203	4300	6503	SO:0001583	missense	10069			AF212232	CCDS13582.1	21q22.11	2012-12-07	2007-07-17	2007-07-17	ENSG00000156253	ENSG00000156253			1302	protein-coding gene	gene with protein product			"""chromosome 21 open reading frame 6"""	C21orf6		10729227	Standard	NM_016940		Approved	GL011	uc002yms.3	P57060	OTTHUMG00000078805	ENST00000493196.1:c.30G>C	21.37:g.30391569C>G	ENSP00000418693:p.Trp10Cys	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_DUF1115,pfam_RWD-domain,superfamily_UBQ-conjugating_enzyme/RWD,smart_RWD-domain,pirsf_UCP038021_RWD,pfscan_RWD-domain	p.W10C	ENST00000493196.1	37	c.30	CCDS13582.1	21	.	.	.	.	.	.	.	.	.	.	C	7.015	0.557650	0.13436	.	.	ENSG00000156253	ENST00000493196	.	.	.	2.79	1.65	0.23941	.	.	.	.	.	T	0.16642	0.0400	N	0.08118	0	0.09310	N	1	B	0.27679	0.185	B	0.24394	0.053	T	0.17410	-1.0370	8	0.54805	T	0.06	7.7202	4.2098	0.10505	0.0:0.1778:0.0:0.8222	.	10	P57060	RWD2B_HUMAN	C	10	.	ENSP00000418693:W10C	W	-	3	0	RWDD2B	29313440	0.001000	0.12720	0.000000	0.03702	0.002000	0.02628	0.561000	0.23515	0.482000	0.27582	-0.302000	0.09304	TGG	RWDD2B	-	NULL		0.592	RWDD2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RWDD2B	HGNC	protein_coding	OTTHUMT00000171858.1	C			30391569	-1	no_errors	ENST00000493196	ensembl	human	known	70_37	missense	SNP	0.000	G
RWDD4	201965	genome.wustl.edu	37	4	184572285	184572285	+	Splice_Site	SNP	C	C	G			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr4:184572285C>G	ENST00000326397.5	-	4	488		c.e4-1		RWDD4_ENST00000510968.1_Splice_Site|RWDD4_ENST00000512740.1_Splice_Site|RNU6-479P_ENST00000516348.1_RNA|RWDD4_ENST00000327570.9_Splice_Site	NM_152682.2	NP_689895.2	Q6NW29	RWDD4_HUMAN	RWD domain containing 4											large_intestine(2)|lung(4)|ovary(1)|prostate(1)	8						AGCTGATGATCTACAATGCAC	0.363																																																	0													95.0	92.0	93.0					4																	184572285		2203	4300	6503	SO:0001630	splice_region_variant	201965			BC017472	CCDS34111.1	4q35.1	2012-12-07	2010-09-30	2010-09-30	ENSG00000182552	ENSG00000182552			23750	protein-coding gene	gene with protein product			"""family with sequence similarity 28, member A"", ""RWD domain containing 4A"""	FAM28A, RWDD4A			Standard	NM_152682		Approved	MGC10198	uc003ivt.1	Q6NW29	OTTHUMG00000160632	ENST00000326397.5:c.216-1G>C	4.37:g.184572285C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	B2RDE9|B4DDP2|Q75LA9|Q8WVW2	Splice_Site	SNP	-	e4-1	ENST00000326397.5	37	c.216-1	CCDS34111.1	4	.	.	.	.	.	.	.	.	.	.	C	8.841	0.942178	0.18281	.	.	ENSG00000182552	ENST00000326397;ENST00000327570;ENST00000512740	.	.	.	5.18	5.18	0.71444	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.2427	0.54553	0.0:0.9232:0.0:0.0768	.	.	.	.	.	-1	.	.	.	-	.	.	RWDD4	184809279	1.000000	0.71417	0.850000	0.33497	0.040000	0.13550	7.009000	0.76347	2.713000	0.92767	0.655000	0.94253	.	RWDD4	-	-		0.363	RWDD4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RWDD4	HGNC	protein_coding	OTTHUMT00000361499.2	C	NM_152682	Intron	184572285	-1	no_errors	ENST00000326397	ensembl	human	known	70_37	splice_site	SNP	1.000	G
RXRB	6257	genome.wustl.edu	37	6	33163791	33163791	+	Missense_Mutation	SNP	A	A	C			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr6:33163791A>C	ENST00000374680.3	-	6	1227	c.1016T>G	c.(1015-1017)aTc>aGc	p.I339S	RXRB_ENST00000374685.4_Missense_Mutation_p.I339S|RXRB_ENST00000544186.1_Missense_Mutation_p.I149S	NM_001270401.1|NM_021976.4	NP_001257330.1|NP_068811.1	P28702	RXRB_HUMAN	retinoid X receptor, beta	339	Ligand-binding. {ECO:0000250}.				cardiac muscle cell proliferation (GO:0060038)|cellular response to retinoic acid (GO:0071300)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|maternal placenta development (GO:0001893)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription initiation from RNA polymerase II promoter (GO:0006367)|ventricular cardiac muscle cell differentiation (GO:0055012)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	9-cis retinoic acid receptor activity (GO:0004886)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(2)|large_intestine(3)|lung(3)|ovary(3)|prostate(1)|skin(2)	15					Acitretin(DB00459)|Adapalene(DB00210)|Alitretinoin(DB00523)|Bexarotene(DB00307)|Tazarotene(DB00799)|Tretinoin(DB00755)	TGCCTGACAGATGTTAGTCAC	0.507																																																	0													104.0	98.0	100.0					6																	33163791		1510	2708	4218	SO:0001583	missense	6257			M84820	CCDS4768.1, CCDS59007.1	6p21.3	2013-01-16			ENSG00000204231	ENSG00000204231		"""Nuclear hormone receptors"""	10478	protein-coding gene	gene with protein product	"""nuclear receptor subfamily 2 group B member 2"""	180246				8257090	Standard	NM_021976		Approved	NR2B2, H-2RIIBP, RCoR-1	uc003odc.4	P28702	OTTHUMG00000031298	ENST00000374680.3:c.1016T>G	6.37:g.33163791A>C	ENSP00000363812:p.Ile339Ser	Somatic		WXS	Illumina HiSeq	Phase_IV	P28703|Q59G65|Q5JP92|Q5STQ1	Missense_Mutation	SNP	pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Retinoid-X_rcpt/HNF4,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_Retinoic_acid_rcpt	p.I339S	ENST00000374680.3	37	c.1016	CCDS4768.1	6	.	.	.	.	.	.	.	.	.	.	A	17.71	3.456185	0.63401	.	.	ENSG00000204231	ENST00000374685;ENST00000374680;ENST00000544186	T;T;T	0.72167	-0.63;-0.63;-0.63	5.24	4.09	0.47781	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (1);	0.053218	0.64402	D	0.000001	T	0.79879	0.4522	M	0.86420	2.815	0.80722	D	1	D;P;D;D;D	0.89917	0.985;0.948;1.0;1.0;1.0	P;P;D;D;D	0.91635	0.898;0.757;0.999;0.999;0.999	T	0.82575	-0.0389	10	0.87932	D	0	.	8.9697	0.35899	0.9131:0.0:0.0869:0.0	.	222;149;339;379;339	B7Z6X3;E9PK95;Q5STP9;Q59G65;P28702	.;.;.;.;RXRB_HUMAN	S	339;339;149	ENSP00000363817:I339S;ENSP00000363812:I339S;ENSP00000439222:I149S	ENSP00000363812:I339S	I	-	2	0	RXRB	33271769	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.130000	0.94437	1.025000	0.39708	0.448000	0.29417	ATC	RXRB	-	superfamily_Nucl_hormone_rcpt_ligand-bd		0.507	RXRB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	RXRB	HGNC	protein_coding	OTTHUMT00000076642.2	A	NM_021976		33163791	-1	no_errors	ENST00000374680	ensembl	human	known	70_37	missense	SNP	1.000	C
RYR2	6262	genome.wustl.edu	37	1	237824116	237824116	+	Missense_Mutation	SNP	G	G	A			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr1:237824116G>A	ENST00000366574.2	+	56	8622	c.8305G>A	c.(8305-8307)Gaa>Aaa	p.E2769K	RYR2_ENST00000542537.1_Missense_Mutation_p.E2753K|RYR2_ENST00000360064.6_Missense_Mutation_p.E2767K	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	2769	4 X approximate repeats.				BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			CTAGGAAAAAGAAATTTATCG	0.358																																																	0													29.0	28.0	28.0					1																	237824116		1455	3277	4732	SO:0001583	missense	6262			X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.8305G>A	1.37:g.237824116G>A	ENSP00000355533:p.Glu2769Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_HAND_2,pfscan_MIR_motif	p.E2767K	ENST00000366574.2	37	c.8299	CCDS55691.1	1	.	.	.	.	.	.	.	.	.	.	G	33	5.219408	0.95139	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537	D;D;D	0.91464	-2.85;-2.85;-2.85	5.46	5.46	0.80206	Ryanodine receptor Ryr (1);	0.000000	0.64402	D	0.000006	D	0.93491	0.7923	L	0.52573	1.65	0.80722	D	1	D	0.65815	0.995	P	0.61800	0.894	D	0.93721	0.7033	10	0.72032	D	0.01	-15.6963	19.6764	0.95936	0.0:0.0:1.0:0.0	.	2769	Q92736	RYR2_HUMAN	K	2769;2767;2753	ENSP00000355533:E2769K;ENSP00000353174:E2767K;ENSP00000443798:E2753K	ENSP00000353174:E2767K	E	+	1	0	RYR2	235890739	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	9.350000	0.97070	2.715000	0.92844	0.563000	0.77884	GAA	RYR2	-	pfam_Ryanodine_rcpt		0.358	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	RYR2	HGNC	protein_coding	OTTHUMT00000095402.2	G	NM_001035		237824116	+1	no_errors	ENST00000360064	ensembl	human	known	70_37	missense	SNP	1.000	A
RYR2	6262	genome.wustl.edu	37	1	237838107	237838107	+	Missense_Mutation	SNP	C	C	T			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr1:237838107C>T	ENST00000366574.2	+	60	9108	c.8791C>T	c.(8791-8793)Cgc>Tgc	p.R2931C	RYR2_ENST00000542537.1_Missense_Mutation_p.R2915C|RYR2_ENST00000609119.1_3'UTR|RYR2_ENST00000360064.6_Missense_Mutation_p.R2929C	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	2931					BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			ACAACTCATTCGCTATGTGGA	0.408																																																	0													115.0	109.0	111.0					1																	237838107		1874	4107	5981	SO:0001583	missense	6262			X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.8791C>T	1.37:g.237838107C>T	ENSP00000355533:p.Arg2931Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_HAND_2,pfscan_MIR_motif	p.R2929C	ENST00000366574.2	37	c.8785	CCDS55691.1	1	.	.	.	.	.	.	.	.	.	.	C	18.87	3.715135	0.68844	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537	T;D;T	0.96587	-0.31;-4.06;-0.31	4.88	3.83	0.44106	.	0.224693	0.27048	U	0.021186	D	0.94781	0.8315	L	0.44542	1.39	0.80722	D	1	D	0.76494	0.999	P	0.49502	0.613	D	0.94683	0.7867	10	0.72032	D	0.01	.	12.396	0.55384	0.2903:0.7097:0.0:0.0	.	2931	Q92736	RYR2_HUMAN	C	2931;2929;2915	ENSP00000355533:R2931C;ENSP00000353174:R2929C;ENSP00000443798:R2915C	ENSP00000353174:R2929C	R	+	1	0	RYR2	235904730	0.991000	0.36638	0.996000	0.52242	0.968000	0.65278	3.454000	0.52986	2.406000	0.81754	0.557000	0.71058	CGC	RYR2	-	NULL		0.408	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	RYR2	HGNC	protein_coding	OTTHUMT00000095402.2	C	NM_001035		237838107	+1	no_errors	ENST00000360064	ensembl	human	known	70_37	missense	SNP	0.875	T
RYR2	6262	genome.wustl.edu	37	1	237935342	237935342	+	Missense_Mutation	SNP	G	G	T			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr1:237935342G>T	ENST00000366574.2	+	86	11905	c.11588G>T	c.(11587-11589)gGc>gTc	p.G3863V	RYR2_ENST00000542537.1_Missense_Mutation_p.G3847V|RYR2_ENST00000609119.1_3'UTR|RYR2_ENST00000360064.6_Missense_Mutation_p.G3869V	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	3863					BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			ACTCAGACTGGCAATAATACA	0.333																																																	0													63.0	58.0	59.0					1																	237935342		1816	4078	5894	SO:0001583	missense	6262			X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.11588G>T	1.37:g.237935342G>T	ENSP00000355533:p.Gly3863Val	Somatic		WXS	Illumina HiSeq	Phase_IV	Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	pfam_Ca-rel_channel,pfam_Ryanodine_rcpt,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_HAND_2,pfscan_MIR_motif	p.G3869V	ENST00000366574.2	37	c.11606	CCDS55691.1	1	.	.	.	.	.	.	.	.	.	.	G	29.2	4.987272	0.93106	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537;ENST00000542288	D;D;D	0.95342	-3.68;-3.68;-3.68	5.8	5.8	0.92144	RyR/IP3R Homology associated domain (1);	0.000000	0.64402	U	0.000009	D	0.97554	0.9199	M	0.82716	2.605	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.995	D	0.97746	1.0211	10	0.87932	D	0	-14.5941	20.0546	0.97648	0.0:0.0:1.0:0.0	.	837;3863	B4DGV4;Q92736	.;RYR2_HUMAN	V	3863;3869;3847;837	ENSP00000355533:G3863V;ENSP00000353174:G3869V;ENSP00000443798:G3847V	ENSP00000353174:G3869V	G	+	2	0	RYR2	236001965	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.813000	0.99286	2.758000	0.94735	0.643000	0.83706	GGC	RYR2	-	pfam_RIH_assoc-dom		0.333	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	RYR2	HGNC	protein_coding	OTTHUMT00000095402.2	G	NM_001035		237935342	+1	no_errors	ENST00000360064	ensembl	human	known	70_37	missense	SNP	1.000	T
RYR3	6263	genome.wustl.edu	37	15	34151870	34151870	+	Missense_Mutation	SNP	G	G	A			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr15:34151870G>A	ENST00000389232.4	+	100	14307	c.14237G>A	c.(14236-14238)cGc>cAc	p.R4746H	RP11-3D4.3_ENST00000560404.1_RNA|RYR3_ENST00000415757.3_Missense_Mutation_p.R4741H|RP11-3D4.2_ENST00000560268.1_RNA	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	4746					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cellular response to ATP (GO:0071318)|cellular response to caffeine (GO:0071313)|cellular response to calcium ion (GO:0071277)|cellular response to magnesium ion (GO:0071286)|ion transmembrane transport (GO:0034220)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|protein homotetramerization (GO:0051289)|striated muscle contraction (GO:0006941)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|ryanodine-sensitive calcium-release channel activity (GO:0005219)			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		GAAATGTATCGCATTGTCTTT	0.423																																																	0													301.0	294.0	296.0					15																	34151870		2030	4194	6224	SO:0001583	missense	6263				CCDS45210.1, CCDS58351.1	15q14-q15	2013-01-10				ENSG00000198838		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10485	protein-coding gene	gene with protein product		180903				8276408	Standard	NM_001036		Approved		uc001zhi.3	Q15413		ENST00000389232.4:c.14237G>A	15.37:g.34151870G>A	ENSP00000373884:p.Arg4746His	Somatic		WXS	Illumina HiSeq	Phase_IV	O15175|Q15412	Missense_Mutation	SNP	pfam_Ryanodine_rcpt,pfam_Ca-rel_channel,pfam_Ryanrecept_TM4-6,pfam_SPRY_rcpt,pfam_Ins145_P3_rcpt,pfam_MIR_motif,pfam_RIH_assoc-dom,pfam_Ion_trans_dom,superfamily_MIR_motif,superfamily_ConA-like_lec_gl_sf,superfamily_4_helix_cytokine-like_core,superfamily_ARM-type_fold,smart_MIR_motif,smart_SPla/RYanodine_receptor_subgr,prints_Ryan_recept,pfscan_B30.2/SPRY,pfscan_EF_HAND_2,pfscan_MIR_motif	p.R4746H	ENST00000389232.4	37	c.14237	CCDS45210.1	15	.	.	.	.	.	.	.	.	.	.	G	35	5.427979	0.96131	.	.	ENSG00000198838	ENST00000389232;ENST00000361728	D	0.98493	-4.96	5.24	5.24	0.73138	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.99327	0.9764	H	0.95574	3.69	0.58432	D	0.999997	D;D	0.89917	0.999;1.0	D;D	0.97110	0.985;1.0	D	0.98779	1.0731	10	0.87932	D	0	.	19.3787	0.94523	0.0:0.0:1.0:0.0	.	4741;4746	Q15413-2;Q15413	.;RYR3_HUMAN	H	4746;4742	ENSP00000373884:R4746H	ENSP00000354735:R4742H	R	+	2	0	RYR3	31939162	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.503000	0.97984	2.884000	0.98904	0.655000	0.94253	CGC	RYR3	-	pfam_Ion_trans_dom		0.423	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RYR3	HGNC	protein_coding	OTTHUMT00000417514.1	G			34151870	+1	no_errors	ENST00000389232	ensembl	human	known	70_37	missense	SNP	1.000	A
SAFB2	9667	genome.wustl.edu	37	19	5622699	5622699	+	Missense_Mutation	SNP	C	C	A			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr19:5622699C>A	ENST00000252542.4	-	1	292	c.28G>T	c.(28-30)Gac>Tac	p.D10Y	SAFB_ENST00000433404.1_5'Flank|SAFB_ENST00000292123.5_5'Flank|SAFB_ENST00000538656.1_5'Flank|SAFB_ENST00000454510.1_5'Flank|SAFB_ENST00000592224.1_5'Flank|SAFB_ENST00000588852.1_5'Flank	NM_014649.2	NP_055464.1	Q14151	SAFB2_HUMAN	scaffold attachment factor B2	10					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			endometrium(3)|kidney(4)|large_intestine(7)|lung(8)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				UCEC - Uterine corpus endometrioid carcinoma (162;0.000228)		GGGCCCGAGTCGCCCGACCCG	0.682																																					Ovarian(127;888 1728 23957 44128 52668)												0													8.0	10.0	10.0					19																	5622699		2140	4220	6360	SO:0001583	missense	9667			D50928	CCDS32879.1	19p13.3	2013-02-12				ENSG00000130254		"""RNA binding motif (RRM) containing"""	21605	protein-coding gene	gene with protein product		608066				12660241	Standard	NM_014649		Approved	KIAA0138	uc002mcd.3	Q14151		ENST00000252542.4:c.28G>T	19.37:g.5622699C>A	ENSP00000252542:p.Asp10Tyr	Somatic		WXS	Illumina HiSeq	Phase_IV	B4DKG3|Q8TB13	Missense_Mutation	SNP	pfam_RRM_dom,pfam_SAP_DNA-bd,smart_SAP_DNA-bd,smart_RRM_dom,pfscan_SAP_DNA-bd,pfscan_RRM_dom	p.D10Y	ENST00000252542.4	37	c.28	CCDS32879.1	19	.	.	.	.	.	.	.	.	.	.	C	34	5.296021	0.95574	.	.	ENSG00000130254	ENST00000434962;ENST00000415313;ENST00000394625;ENST00000252542	T	0.13657	2.57	3.88	3.88	0.44766	.	0.562091	0.14722	N	0.302282	T	0.35828	0.0945	M	0.70595	2.14	0.38963	D	0.958585	D;D	0.71674	0.975;0.998	P;D	0.65573	0.706;0.936	T	0.34675	-0.9819	10	0.87932	D	0	-15.9466	15.3692	0.74548	0.0:1.0:0.0:0.0	.	10;10	A0PJ47;Q14151	.;SAFB2_HUMAN	Y	10	ENSP00000252542:D10Y	ENSP00000252542:D10Y	D	-	1	0	SAFB2	5573699	0.743000	0.28239	0.160000	0.22671	0.791000	0.44710	4.303000	0.59098	2.163000	0.67991	0.561000	0.74099	GAC	SAFB2	-	NULL		0.682	SAFB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SAFB2	HGNC	protein_coding	OTTHUMT00000451016.1	C	NM_014649		5622699	-1	no_errors	ENST00000252542	ensembl	human	known	70_37	missense	SNP	0.936	A
SAFB	6294	genome.wustl.edu	37	19	5654185	5654185	+	Missense_Mutation	SNP	C	C	T			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr19:5654185C>T	ENST00000292123.5	+	12	1747	c.1640C>T	c.(1639-1641)tCa>tTa	p.S547L	SAFB_ENST00000433404.1_Missense_Mutation_p.S377L|SAFB_ENST00000538656.1_Missense_Mutation_p.S390L|SAFB_ENST00000454510.1_Missense_Mutation_p.S478L|SAFB_ENST00000592224.1_Missense_Mutation_p.S547L|SAFB_ENST00000588852.1_Missense_Mutation_p.S547L	NM_001201338.1|NM_001201339.1|NM_002967.3	NP_001188267.1|NP_001188268.1|NP_002958.2	Q15424	SAFB1_HUMAN	scaffold attachment factor B	547	Interaction with POLR2A.				chromatin organization (GO:0006325)|growth (GO:0040007)|hormone metabolic process (GO:0042445)|intracellular estrogen receptor signaling pathway (GO:0030520)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|core promoter binding (GO:0001047)|double-stranded DNA binding (GO:0003690)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(3)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|liver(1)|lung(6)|ovary(2)|skin(1)	23				UCEC - Uterine corpus endometrioid carcinoma (162;0.000222)		CCTGGCCCCTCAGAGCGATCT	0.473																																					Colon(88;338 1345 6184 8214 20897)												0													84.0	78.0	80.0					19																	5654185		2203	4300	6503	SO:0001583	missense	6294			L43631	CCDS12142.1, CCDS56077.1, CCDS59339.1, CCDS59340.1	19p13.3-p13.2	2013-02-12				ENSG00000160633		"""RNA binding motif (RRM) containing"""	10520	protein-coding gene	gene with protein product	"""Hsp27 ERE-TATA binding protein"""	602895				9605873, 8600450	Standard	NM_002967		Approved	HET, SAFB1	uc002mcg.3	Q15424		ENST00000292123.5:c.1640C>T	19.37:g.5654185C>T	ENSP00000292123:p.Ser547Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	A0AV56|B7Z5B6|B7ZLP6|F5H0H3|O60406|Q59HH8	Missense_Mutation	SNP	pfam_RRM_dom,pfam_SAP_DNA-bd,smart_SAP_DNA-bd,smart_RRM_dom,pfscan_SAP_DNA-bd,pfscan_RRM_dom	p.S547L	ENST00000292123.5	37	c.1640	CCDS12142.1	19	.	.	.	.	.	.	.	.	.	.	C	17.15	3.316682	0.60524	.	.	ENSG00000160633	ENST00000454510;ENST00000540206;ENST00000433404;ENST00000292123;ENST00000538656	T;T;T;T	0.12361	2.73;2.91;2.72;2.69	5.34	5.34	0.76211	.	0.135280	0.34002	N	0.004341	T	0.24509	0.0594	L	0.47716	1.5	0.41370	D	0.987483	P;P;P;B;P;B;P	0.52316	0.799;0.885;0.952;0.264;0.454;0.264;0.454	B;P;P;B;B;B;B	0.51055	0.323;0.621;0.657;0.186;0.186;0.186;0.186	T	0.00453	-1.1730	10	0.72032	D	0.01	-3.1271	19.0052	0.92848	0.0:1.0:0.0:0.0	.	346;390;478;547;547;547;547	B7Z1C7;B7Z2F6;F5H0H3;B7ZLP5;A0AV56;Q15424;B7ZLP6	.;.;.;.;.;SAFB1_HUMAN;.	L	478;442;377;547;390	ENSP00000415895:S478L;ENSP00000404545:S377L;ENSP00000292123:S547L;ENSP00000438880:S390L	ENSP00000292123:S547L	S	+	2	0	SAFB	5605185	0.868000	0.29978	0.513000	0.27749	0.939000	0.58152	3.536000	0.53582	2.654000	0.90174	0.563000	0.77884	TCA	SAFB	-	NULL		0.473	SAFB-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	SAFB	HGNC	protein_coding	OTTHUMT00000451641.2	C			5654185	+1	no_errors	ENST00000588852	ensembl	human	known	70_37	missense	SNP	0.674	T
SASH1	23328	genome.wustl.edu	37	6	148864862	148864862	+	Missense_Mutation	SNP	G	G	T			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr6:148864862G>T	ENST00000367467.3	+	18	2731	c.2256G>T	c.(2254-2256)gaG>gaT	p.E752D		NM_015278.3	NP_056093.3	O94885	SASH1_HUMAN	SAM and SH3 domain containing 1	752					positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of lipopolysaccharide-mediated signaling pathway (GO:0031666)|positive regulation of NIK/NF-kappaB signaling (GO:1901224)|positive regulation of p38MAPK cascade (GO:1900745)|protein polyubiquitination (GO:0000209)|regulation of protein autoubiquitination (GO:1902498)|regulation of protein K63-linked ubiquitination (GO:1900044)	membrane (GO:0016020)|protein complex (GO:0043234)	mitogen-activated protein kinase kinase kinase binding (GO:0031435)|protein C-terminus binding (GO:0008022)|protein complex scaffold (GO:0032947)|protein kinase binding (GO:0019901)			breast(4)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Ovarian(120;0.0169)		OV - Ovarian serous cystadenocarcinoma(155;5.63e-11)|GBM - Glioblastoma multiforme(68;0.0701)		CATCCACCGAGCCCAGCTTGA	0.453																																																	0													61.0	62.0	61.0					6																	148864862		2203	4300	6503	SO:0001583	missense	23328			AB018333	CCDS5212.1	6q24.3	2013-01-10			ENSG00000111961	ENSG00000111961		"""SAM and SH3 domain containing"", ""Sterile alpha motif (SAM) domain containing"""	19182	protein-coding gene	gene with protein product		607955				9872452, 12771949	Standard	NM_015278		Approved	KIAA0790, dJ323M4.1, SH3D6A	uc003qme.1	O94885	OTTHUMG00000015773	ENST00000367467.3:c.2256G>T	6.37:g.148864862G>T	ENSP00000356437:p.Glu752Asp	Somatic		WXS	Illumina HiSeq	Phase_IV	Q5TGN5|Q8TAI0|Q9H7R7	Missense_Mutation	SNP	pfam_rSAM/SH3_domain-containing,pfam_SAM_2,pfam_SAM_type1,pfam_SH3_2,superfamily_SAM/pointed,superfamily_SH3_domain,smart_SH3_domain,smart_SAM,pfscan_SAM	p.E752D	ENST00000367467.3	37	c.2256	CCDS5212.1	6	.	.	.	.	.	.	.	.	.	.	G	2.247	-0.372542	0.05034	.	.	ENSG00000111961	ENST00000367467;ENST00000535767;ENST00000537769	T	0.37915	1.17	4.83	2.82	0.32997	.	0.642064	0.17265	N	0.180610	T	0.09730	0.0239	L	0.31294	0.92	0.09310	N	1	B;B	0.09022	0.002;0.002	B;B	0.06405	0.002;0.002	T	0.20571	-1.0271	10	0.36615	T	0.2	-12.2751	6.9462	0.24520	0.1683:0.0:0.6793:0.1524	.	733;752	Q6P4R9;O94885	.;SASH1_HUMAN	D	752;513;162	ENSP00000356437:E752D	ENSP00000356437:E752D	E	+	3	2	SASH1	148906555	0.982000	0.34865	0.039000	0.18376	0.042000	0.13812	1.643000	0.37217	1.047000	0.40274	0.650000	0.86243	GAG	SASH1	-	NULL		0.453	SASH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SASH1	HGNC	protein_coding	OTTHUMT00000042619.1	G	NM_015278		148864862	+1	no_errors	ENST00000367467	ensembl	human	known	70_37	missense	SNP	0.095	T
SASH1	23328	genome.wustl.edu	37	6	148865568	148865568	+	Missense_Mutation	SNP	C	C	T			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr6:148865568C>T	ENST00000367467.3	+	18	3437	c.2962C>T	c.(2962-2964)Cct>Tct	p.P988S		NM_015278.3	NP_056093.3	O94885	SASH1_HUMAN	SAM and SH3 domain containing 1	988	Pro-rich.				positive regulation of angiogenesis (GO:0045766)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of lipopolysaccharide-mediated signaling pathway (GO:0031666)|positive regulation of NIK/NF-kappaB signaling (GO:1901224)|positive regulation of p38MAPK cascade (GO:1900745)|protein polyubiquitination (GO:0000209)|regulation of protein autoubiquitination (GO:1902498)|regulation of protein K63-linked ubiquitination (GO:1900044)	membrane (GO:0016020)|protein complex (GO:0043234)	mitogen-activated protein kinase kinase kinase binding (GO:0031435)|protein C-terminus binding (GO:0008022)|protein complex scaffold (GO:0032947)|protein kinase binding (GO:0019901)			breast(4)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	52		Ovarian(120;0.0169)		OV - Ovarian serous cystadenocarcinoma(155;5.63e-11)|GBM - Glioblastoma multiforme(68;0.0701)		TCCACCTGTTCCTGCCAAAAA	0.582																																																	0													64.0	70.0	68.0					6																	148865568		2203	4300	6503	SO:0001583	missense	23328			AB018333	CCDS5212.1	6q24.3	2013-01-10			ENSG00000111961	ENSG00000111961		"""SAM and SH3 domain containing"", ""Sterile alpha motif (SAM) domain containing"""	19182	protein-coding gene	gene with protein product		607955				9872452, 12771949	Standard	NM_015278		Approved	KIAA0790, dJ323M4.1, SH3D6A	uc003qme.1	O94885	OTTHUMG00000015773	ENST00000367467.3:c.2962C>T	6.37:g.148865568C>T	ENSP00000356437:p.Pro988Ser	Somatic		WXS	Illumina HiSeq	Phase_IV	Q5TGN5|Q8TAI0|Q9H7R7	Missense_Mutation	SNP	pfam_rSAM/SH3_domain-containing,pfam_SAM_2,pfam_SAM_type1,pfam_SH3_2,superfamily_SAM/pointed,superfamily_SH3_domain,smart_SH3_domain,smart_SAM,pfscan_SAM	p.P988S	ENST00000367467.3	37	c.2962	CCDS5212.1	6	.	.	.	.	.	.	.	.	.	.	C	25.9	4.687562	0.88639	.	.	ENSG00000111961	ENST00000367467;ENST00000537769	T	0.66815	-0.23	5.2	5.2	0.72013	.	0.000000	0.85682	D	0.000000	T	0.71417	0.3337	L	0.36672	1.1	0.58432	D	0.999998	D;D	0.89917	1.0;1.0	D;D	0.85130	0.997;0.997	T	0.75246	-0.3385	10	0.72032	D	0.01	-16.2544	18.7516	0.91818	0.0:1.0:0.0:0.0	.	969;988	Q6P4R9;O94885	.;SASH1_HUMAN	S	988;398	ENSP00000356437:P988S	ENSP00000356437:P988S	P	+	1	0	SASH1	148907261	1.000000	0.71417	0.273000	0.24645	0.998000	0.95712	7.272000	0.78516	2.433000	0.82419	0.650000	0.86243	CCT	SASH1	-	NULL		0.582	SASH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SASH1	HGNC	protein_coding	OTTHUMT00000042619.1	C	NM_015278		148865568	+1	no_errors	ENST00000367467	ensembl	human	known	70_37	missense	SNP	0.998	T
SASH3	54440	genome.wustl.edu	37	X	128914080	128914080	+	Missense_Mutation	SNP	C	C	T	rs368987935		TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chrX:128914080C>T	ENST00000356892.3	+	1	121	c.7C>T	c.(7-9)Cgc>Tgc	p.R3C	SASH3_ENST00000476532.1_3'UTR	NM_018990.3	NP_061863.1	O75995	SASH3_HUMAN	SAM and SH3 domain containing 3	3					homeostasis of number of cells within a tissue (GO:0048873)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of CD4-positive, alpha-beta T cell differentiation (GO:0043372)|positive regulation of immunoglobulin production (GO:0002639)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of interleukin-4 production (GO:0032753)|positive regulation of organ growth (GO:0046622)|positive regulation of T cell cytokine production (GO:0002726)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of tumor necrosis factor production (GO:0032760)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(2)|endometrium(2)|large_intestine(1)|lung(3)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	12						GACCATGCTGCGCCGCAAGCC	0.582																																																	0								C	CYS/ARG	1,3834		0,1,1631,571	89.0	78.0	82.0		7	5.3	1.0	X		82	0,6728		0,0,2428,1872	no	missense	SASH3	NM_018990.3	180	0,1,4059,2443	TT,TC,CC,C		0.0,0.0261,0.0095	probably-damaging	3/381	128914080	1,10562	2203	4300	6503	SO:0001583	missense	54440			BC051881	CCDS14614.1	Xq26	2013-01-10	2008-02-18	2008-02-18	ENSG00000122122	ENSG00000122122		"""SAM and SH3 domain containing"", ""Sterile alpha motif (SAM) domain containing"""	15975	protein-coding gene	gene with protein product		300441	"""chromosome X open reading frame 9"""	CXorf9		11470164	Standard	NM_018990		Approved	SLY, 753P9, SH3D6C, HACS2	uc004euu.3	O75995	OTTHUMG00000022372	ENST00000356892.3:c.7C>T	X.37:g.128914080C>T	ENSP00000349359:p.Arg3Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NCH1|A8K7K8|Q5JZ38	Missense_Mutation	SNP	pfam_rSAM/SH3_domain-containing,pfam_SAM_2,pfam_SAM_type1,pfam_SH3_2,superfamily_SAM/pointed,superfamily_SH3_domain,smart_SH3_domain,smart_SAM,pfscan_SAM	p.R3C	ENST00000356892.3	37	c.7	CCDS14614.1	X	.	.	.	.	.	.	.	.	.	.	C	17.08	3.298252	0.60195	2.61E-4	0.0	ENSG00000122122	ENST00000443760;ENST00000356892	T	0.54675	0.56	5.31	5.31	0.75309	.	0.054285	0.64402	D	0.000001	T	0.64483	0.2602	L	0.39898	1.24	0.80722	D	1	D	0.89917	1.0	D	0.75020	0.985	T	0.67738	-0.5593	10	0.87932	D	0	-4.6538	15.2979	0.73925	0.0:1.0:0.0:0.0	.	3	O75995	SASH3_HUMAN	C	3	ENSP00000349359:R3C	ENSP00000349359:R3C	R	+	1	0	SASH3	128741761	1.000000	0.71417	1.000000	0.80357	0.942000	0.58702	4.373000	0.59537	2.203000	0.70933	0.513000	0.50165	CGC	SASH3	-	NULL		0.582	SASH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SASH3	HGNC	protein_coding	OTTHUMT00000058208.1	C	NM_018990		128914080	+1	no_errors	ENST00000356892	ensembl	human	known	70_37	missense	SNP	1.000	T
SBNO2	22904	genome.wustl.edu	37	19	1116100	1116100	+	Missense_Mutation	SNP	C	C	A			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr19:1116100C>A	ENST00000361757.3	-	17	2042	c.1805G>T	c.(1804-1806)gGc>gTc	p.G602V	SBNO2_ENST00000438103.2_Missense_Mutation_p.G545V|SBNO2_ENST00000587024.1_Missense_Mutation_p.G592V	NM_014963.2	NP_055778.2	Q9Y2G9	SBNO2_HUMAN	strawberry notch homolog 2 (Drosophila)	602					bone mineralization (GO:0030282)|bone trabecula morphogenesis (GO:0061430)|macrophage activation involved in immune response (GO:0002281)|negative regulation of transcription, DNA-templated (GO:0045892)|osteoclast fusion (GO:0072675)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of inflammatory response (GO:0050727)|transcription, DNA-templated (GO:0006351)					NS(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|lung(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	14		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;7.93e-06)|all_lung(49;1.25e-05)|Breast(49;0.000172)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CAGGAACACGCCTCTGAAAGT	0.612																																																	0													66.0	68.0	68.0					19																	1116100		1985	4154	6139	SO:0001583	missense	22904			AK074102	CCDS45894.1, CCDS45895.1	19p13.3	2008-02-05	2006-10-06	2006-10-06		ENSG00000064932			29158	protein-coding gene	gene with protein product		615729	"""KIAA0963"""	KIAA0963		10231032	Standard	NM_014963		Approved	FLJ00173, Stno, Sno	uc002lrk.4	Q9Y2G9		ENST00000361757.3:c.1805G>T	19.37:g.1116100C>A	ENSP00000354733:p.Gly602Val	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K8P2|B3KWJ1|O75257|Q3KQX0|Q8TEM0	Missense_Mutation	SNP	NULL	p.G602V	ENST00000361757.3	37	c.1805	CCDS45894.1	19	.	.	.	.	.	.	.	.	.	.	C	12.10	1.836695	0.32421	.	.	ENSG00000064932	ENST00000361757;ENST00000438103;ENST00000250872	.	.	.	3.76	3.76	0.43208	.	0.000000	0.85682	D	0.000000	T	0.74030	0.3663	M	0.65975	2.015	0.80722	D	1	B;D;D	0.89917	0.427;1.0;1.0	B;D;D	0.81914	0.254;0.989;0.995	T	0.71038	-0.4708	9	0.17369	T	0.5	-34.6112	14.7492	0.69513	0.0:1.0:0.0:0.0	.	602;602;545	B4DV91;Q9Y2G9;Q9Y2G9-3	.;SBNO2_HUMAN;.	V	602;545;626	.	ENSP00000250872:G626V	G	-	2	0	SBNO2	1067100	1.000000	0.71417	0.993000	0.49108	0.300000	0.27592	6.926000	0.75835	1.937000	0.56155	0.462000	0.41574	GGC	SBNO2	-	NULL		0.612	SBNO2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SBNO2	HGNC	protein_coding	OTTHUMT00000458065.2	C	NM_014963		1116100	-1	no_errors	ENST00000361757	ensembl	human	known	70_37	missense	SNP	1.000	A
SCARB2	950	genome.wustl.edu	37	4	77089622	77089622	+	Missense_Mutation	SNP	C	C	A			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr4:77089622C>A	ENST00000264896.2	-	9	1470	c.1121G>T	c.(1120-1122)gGa>gTa	p.G374V	SCARB2_ENST00000452464.2_Missense_Mutation_p.G231V	NM_005506.3	NP_005497.1	Q14108	SCRB2_HUMAN	scavenger receptor class B, member 2	374					cell adhesion (GO:0007155)|protein targeting to lysosome (GO:0006622)	extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|lysosomal lumen (GO:0043202)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)	enzyme binding (GO:0019899)|receptor activity (GO:0004872)			breast(1)|endometrium(4)|kidney(4)|large_intestine(7)|lung(3)|prostate(2)|skin(1)	22			Lung(101;0.196)			TAGGATTATTCCAGTCAACTG	0.348																																																	0													121.0	127.0	125.0					4																	77089622		2203	4300	6503	SO:0001583	missense	950			D12676	CCDS3577.1, CCDS56335.1	4q21.1	2014-07-11	2002-09-06	2002-09-06	ENSG00000138760	ENSG00000138760			1665	protein-coding gene	gene with protein product		602257	"""CD36 antigen (collagen type I receptor, thrombospondin receptor)-like 2 (lysosomal integral membrane protein II)"""	CD36L2		1374238	Standard	NM_005506		Approved	HLGP85, LIMPII, SR-BII, LIMP-2	uc003hju.2	Q14108	OTTHUMG00000130099	ENST00000264896.2:c.1121G>T	4.37:g.77089622C>A	ENSP00000264896:p.Gly374Val	Somatic		WXS	Illumina HiSeq	Phase_IV	B4DKD8|E7EM68|Q53Y63	Missense_Mutation	SNP	pfam_CD36,superfamily_NA-bd_OB-fold-like,prints_LimpII,prints_CD36,prints_CD36_antigen	p.G374V	ENST00000264896.2	37	c.1121	CCDS3577.1	4	.	.	.	.	.	.	.	.	.	.	C	21.8	4.204022	0.79127	.	.	ENSG00000138760	ENST00000264896;ENST00000452464	D;D	0.91631	-2.88;-2.88	5.28	5.28	0.74379	.	0.000000	0.85682	D	0.000000	D	0.97263	0.9105	H	0.95437	3.67	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.98039	1.0381	10	0.87932	D	0	.	15.9511	0.79840	0.0:1.0:0.0:0.0	.	231;374	E7EM68;Q14108	.;SCRB2_HUMAN	V	374;231	ENSP00000264896:G374V;ENSP00000399154:G231V	ENSP00000264896:G374V	G	-	2	0	SCARB2	77308646	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.547000	0.67249	2.747000	0.94245	0.650000	0.86243	GGA	SCARB2	-	pfam_CD36,prints_CD36		0.348	SCARB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCARB2	HGNC	protein_coding	OTTHUMT00000252403.1	C	NM_005506		77089622	-1	no_errors	ENST00000264896	ensembl	human	known	70_37	missense	SNP	1.000	A
SCN10A	6336	genome.wustl.edu	37	3	38743431	38743431	+	Missense_Mutation	SNP	A	A	C			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr3:38743431A>C	ENST00000449082.2	-	26	4555	c.4556T>G	c.(4555-4557)tTc>tGc	p.F1519C		NM_006514.2	NP_006505.2	Q9Y5Y9	SCNAA_HUMAN	sodium channel, voltage-gated, type X, alpha subunit	1519					AV node cell to bundle of His cell communication (GO:0086067)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of cardiac muscle contraction (GO:0055117)|regulation of heart rate (GO:0002027)|regulation of ion transmembrane transport (GO:0034765)|sensory perception (GO:0007600)|sensory perception of pain (GO:0019233)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	C-fiber (GO:0044299)|extracellular vesicular exosome (GO:0070062)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(5)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(14)|kidney(5)|large_intestine(33)|lung(54)|ovary(5)|pancreas(1)|prostate(5)|skin(13)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	150				KIRC - Kidney renal clear cell carcinoma(284;0.0769)|Kidney(284;0.0945)	Benzocaine(DB01086)|Bupivacaine(DB00297)|Chloroprocaine(DB01161)|Cinchocaine(DB00527)|Cocaine(DB00907)|Dyclonine(DB00645)|Hexylcaine(DB00473)|Lacosamide(DB06218)|Levobupivacaine(DB01002)|Lidocaine(DB00281)|Mepivacaine(DB00961)|Orphenadrine(DB01173)|Oxybuprocaine(DB00892)|Procaine(DB00721)|Proparacaine(DB00807)|Ropivacaine(DB00296)|Valproic Acid(DB00313)	TTCGCCTGTGAAGACGGCCAC	0.448																																																	0													163.0	138.0	147.0					3																	38743431		2203	4300	6503	SO:0001583	missense	6336			AF117907	CCDS33736.1	3p22.2	2012-02-26	2007-01-23		ENSG00000185313	ENSG00000185313		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10582	protein-coding gene	gene with protein product		604427	"""sodium channel, voltage-gated, type X, alpha polypeptide"""			9839820, 10198179, 16382098	Standard	NM_006514		Approved	Nav1.8, hPN3, SNS, PN3	uc003ciq.3	Q9Y5Y9	OTTHUMG00000048245	ENST00000449082.2:c.4556T>G	3.37:g.38743431A>C	ENSP00000390600:p.Phe1519Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NDQ1	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_PKD1_2_channel,prints_Na_channel_asu,prints_PKD_2	p.F1519C	ENST00000449082.2	37	c.4556	CCDS33736.1	3	.	.	.	.	.	.	.	.	.	.	A	20.8	4.055907	0.76074	.	.	ENSG00000185313	ENST00000449082	D	0.99060	-5.38	4.65	4.65	0.58169	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.99635	0.9866	H	0.99516	4.605	0.58432	D	0.999993	D	0.89917	1.0	D	0.91635	0.999	D	0.97271	0.9911	10	0.87932	D	0	.	14.2198	0.65818	1.0:0.0:0.0:0.0	.	1519	Q9Y5Y9	SCNAA_HUMAN	C	1519	ENSP00000390600:F1519C	ENSP00000390600:F1519C	F	-	2	0	SCN10A	38718435	1.000000	0.71417	0.993000	0.49108	0.930000	0.56654	9.081000	0.94049	1.942000	0.56320	0.416000	0.27883	TTC	SCN10A	-	pfam_Ion_trans_dom		0.448	SCN10A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	SCN10A	HGNC	protein_coding	OTTHUMT00000109745.3	A	NM_006514		38743431	-1	no_errors	ENST00000449082	ensembl	human	known	70_37	missense	SNP	1.000	C
SCN2A	6326	genome.wustl.edu	37	2	166170502	166170502	+	Missense_Mutation	SNP	G	G	A			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr2:166170502G>A	ENST00000375437.2	+	10	1557	c.1267G>A	c.(1267-1269)Gtg>Atg	p.V423M	SCN2A_ENST00000375427.2_Missense_Mutation_p.V423M|SCN2A_ENST00000283256.6_Missense_Mutation_p.V423M|SCN2A_ENST00000357398.3_Missense_Mutation_p.V423M	NM_001040142.1	NP_001035232.1	Q99250	SCN2A_HUMAN	sodium channel, voltage-gated, type II, alpha subunit	423					intrinsic apoptotic signaling pathway in response to osmotic stress (GO:0008627)|membrane depolarization during action potential (GO:0086010)|myelination (GO:0042552)|neuron apoptotic process (GO:0051402)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon (GO:0030424)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intrinsic component of plasma membrane (GO:0031226)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|sodium channel complex (GO:0034706)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(1)|breast(7)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(27)|liver(2)|lung(49)|ovary(6)|pancreas(1)|prostate(2)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	118					Lamotrigine(DB00555)|Propofol(DB00818)|Valproic Acid(DB00313)|Zonisamide(DB00909)	GATCTTGGCTGTGGTGGCCAT	0.433																																																	0													88.0	86.0	87.0					2																	166170502		2203	4300	6503	SO:0001583	missense	6326			AB208888	CCDS33313.1, CCDS33314.1	2q24.3	2012-02-26	2007-01-23	2007-01-23	ENSG00000136531	ENSG00000136531		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10588	protein-coding gene	gene with protein product		182390	"""sodium channel, voltage-gated, type II, alpha 2 polypeptide"", ""sodium channel, voltage-gated, type II, alpha 1 polypeptide"""	SCN2A1, SCN2A2		1317301, 16382098	Standard	XM_005246753		Approved	Nav1.2, HBSCII, HBSCI	uc002ude.3	Q99250	OTTHUMG00000044172	ENST00000375437.2:c.1267G>A	2.37:g.166170502G>A	ENSP00000364586:p.Val423Met	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NC14|A6NIQ5|Q14472|Q53T77|Q9BZC9|Q9BZD0	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_Na_trans_assoc,pfam_DUF3451,pfam_PKD1_2_channel,smart_IQ_motif_EF-hand-BS,prints_Na_channel_asu,prints_PKD_2,pfscan_IQ_motif_EF-hand-BS	p.V423M	ENST00000375437.2	37	c.1267	CCDS33314.1	2	.	.	.	.	.	.	.	.	.	.	G	28.9	4.960565	0.92791	.	.	ENSG00000136531	ENST00000424833;ENST00000375437;ENST00000357398;ENST00000283256;ENST00000375427	D;D;D;D;D	0.98987	-5.3;-5.3;-5.3;-5.3;-5.3	5.77	5.77	0.91146	Ion transport (1);	0.000000	0.64402	D	0.000014	D	0.99691	0.9883	H	0.99261	4.49	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.97332	0.9951	10	0.87932	D	0	.	20.3626	0.98863	0.0:0.0:1.0:0.0	.	423;423	Q99250-2;Q99250	.;SCN2A_HUMAN	M	423	ENSP00000406454:V423M;ENSP00000364586:V423M;ENSP00000349973:V423M;ENSP00000283256:V423M;ENSP00000364576:V423M	ENSP00000283256:V423M	V	+	1	0	SCN2A	165878748	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	9.869000	0.99810	2.885000	0.99019	0.655000	0.94253	GTG	SCN2A	-	pfam_Ion_trans_dom		0.433	SCN2A-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SCN2A	HGNC	protein_coding	OTTHUMT00000102659.2	G	NM_021007		166170502	+1	no_errors	ENST00000283256	ensembl	human	known	70_37	missense	SNP	1.000	A
SCN9A	6335	genome.wustl.edu	37	2	167056375	167056375	+	Splice_Site	SNP	C	C	A			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr2:167056375C>A	ENST00000409435.1	-	26	4774		c.e26-1		SCN9A_ENST00000375387.4_Splice_Site|AC010127.3_ENST00000447809.2_RNA|SCN9A_ENST00000409672.1_Splice_Site|SCN9A_ENST00000303354.6_Splice_Site			Q15858	SCN9A_HUMAN	sodium channel, voltage-gated, type IX, alpha subunit						behavioral response to pain (GO:0048266)|inflammatory response (GO:0006954)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|post-embryonic development (GO:0009791)|response to toxic substance (GO:0009636)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	sodium ion binding (GO:0031402)|voltage-gated sodium channel activity (GO:0005248)			NS(1)|breast(5)|central_nervous_system(6)|endometrium(6)|kidney(3)|large_intestine(27)|lung(38)|ovary(6)|prostate(8)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	108					Lacosamide(DB06218)|Lidocaine(DB00281)|Ranolazine(DB00243)|Rufinamide(DB06201)|Valproic Acid(DB00313)|Zonisamide(DB00909)	AGAAACATACCTGTATGTGGA	0.368																																																	0													67.0	74.0	71.0					2																	167056375		2203	4300	6503	SO:0001630	splice_region_variant	6335			X82835	CCDS46441.1	2q24	2014-09-17	2007-01-23		ENSG00000169432	ENSG00000169432		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10597	protein-coding gene	gene with protein product		603415	"""sodium channel, voltage-gated, type IX, alpha polypeptide"""			7720699, 10198179, 16382098	Standard	NM_002977		Approved	Nav1.7, PN1, NE-NA, NENA, ETHA	uc010fpl.3	Q15858	OTTHUMG00000154044	ENST00000409435.1:c.4775-1G>T	2.37:g.167056375C>A		Somatic		WXS	Illumina HiSeq	Phase_IV	A1BUH5|Q6B4R9|Q6B4S0|Q6B4S1|Q70HX1|Q70HX2|Q8WTU1|Q8WWN4	Splice_Site	SNP	-	e26-1	ENST00000409435.1	37	c.4778-1	CCDS46441.1	2	.	.	.	.	.	.	.	.	.	.	C	15.02	2.709849	0.48517	.	.	ENSG00000169432	ENST00000409672;ENST00000375387;ENST00000303354;ENST00000409435	.	.	.	5.74	5.74	0.90152	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.9095	0.97021	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SCN9A	166764621	1.000000	0.71417	0.998000	0.56505	0.541000	0.35023	7.670000	0.83925	2.701000	0.92244	0.650000	0.86243	.	SCN9A	-	-		0.368	SCN9A-004	KNOWN	basic|CCDS	protein_coding	SCN9A	HGNC	protein_coding	OTTHUMT00000333639.1	C	NM_002977	Intron	167056375	-1	no_errors	ENST00000303354	ensembl	human	known	70_37	splice_site	SNP	1.000	A
SCO1	6341	genome.wustl.edu	37	17	10590073	10590073	+	Missense_Mutation	SNP	C	C	A			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr17:10590073C>A	ENST00000255390.5	-	5	802	c.742G>T	c.(742-744)Ggc>Tgc	p.G248C	CTC-297N7.10_ENST00000584139.1_RNA|SCO1_ENST00000577427.1_Missense_Mutation_p.G217C	NM_004589.2	NP_004580.1	O75880	SCO1_HUMAN	SCO1 cytochrome c oxidase assembly protein	248					cellular copper ion homeostasis (GO:0006878)|copper ion transport (GO:0006825)|generation of precursor metabolites and energy (GO:0006091)|respiratory chain complex IV assembly (GO:0008535)	mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|myofibril (GO:0030016)	copper ion binding (GO:0005507)			cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(2)|urinary_tract(1)	10						TCCTTGGGGCCAGGGCTGTAA	0.443																																					Melanoma(128;591 1731 19711 31891 44645)												0													167.0	160.0	162.0					17																	10590073		2203	4300	6503	SO:0001583	missense	6341			AF026852	CCDS11158.1	17p13.1	2012-10-15	2012-10-15		ENSG00000133028	ENSG00000133028		"""Mitochondrial respiratory chain complex assembly factors"""	10603	protein-coding gene	gene with protein product		603644	"""SCO (cytochrome oxidase deficient, yeast) homolog 1"", ""SCO cytochrome oxidase deficient homolog 1 (yeast)"""	SCOD1		9878253	Standard	NM_004589		Approved		uc002gmr.4	O75880	OTTHUMG00000130364	ENST00000255390.5:c.742G>T	17.37:g.10590073C>A	ENSP00000255390:p.Gly248Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RDM0	Missense_Mutation	SNP	pfam_SCO1/SenC,pfam_AhpC/TSA,superfamily_Thioredoxin-like_fold,pirsf_Synth_of_cyt-c-oxidase_Sco1/2	p.G248C	ENST00000255390.5	37	c.742	CCDS11158.1	17	.	.	.	.	.	.	.	.	.	.	C	26.8	4.768489	0.90020	.	.	ENSG00000133028	ENST00000255390;ENST00000396047	D	0.88818	-2.43	5.88	5.88	0.94601	Thioredoxin-like fold (2);	0.000000	0.85682	D	0.000000	D	0.95974	0.8689	M	0.91300	3.195	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.95624	0.8683	10	0.54805	T	0.06	-14.8192	20.2371	0.98361	0.0:1.0:0.0:0.0	.	217;248	A8MY34;O75880	.;SCO1_HUMAN	C	248;217	ENSP00000255390:G248C	ENSP00000255390:G248C	G	-	1	0	SCO1	10530798	1.000000	0.71417	1.000000	0.80357	0.783000	0.44284	7.441000	0.80485	2.788000	0.95919	0.555000	0.69702	GGC	SCO1	-	pfam_SCO1/SenC,pfam_AhpC/TSA,superfamily_Thioredoxin-like_fold,pirsf_Synth_of_cyt-c-oxidase_Sco1/2		0.443	SCO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCO1	HGNC	protein_coding	OTTHUMT00000252729.2	C	NM_004589		10590073	-1	no_errors	ENST00000255390	ensembl	human	known	70_37	missense	SNP	1.000	A
SEC23A	10484	genome.wustl.edu	37	14	39530996	39530996	+	Missense_Mutation	SNP	C	C	T	rs572679988		TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr14:39530996C>T	ENST00000307712.6	-	13	1995	c.1478G>A	c.(1477-1479)cGc>cAc	p.R493H	SEC23A_ENST00000545328.2_Missense_Mutation_p.R464H|SEC23A_ENST00000536508.1_Missense_Mutation_p.R367H|SEC23A_ENST00000537403.1_Missense_Mutation_p.R291H|SEC23A_ENST00000553925.1_5'Flank	NM_006364.2	NP_006355.2	Q15436	SC23A_HUMAN	Sec23 homolog A (S. cerevisiae)	493					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)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|small molecule metabolic process (GO:0044281)|vesicle-mediated transport (GO:0016192)	COPII vesicle coat (GO:0030127)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|perinuclear region of cytoplasm (GO:0048471)	zinc ion binding (GO:0008270)			kidney(2)|large_intestine(3)|liver(1)|lung(11)|ovary(4)|pancreas(1)|upper_aerodigestive_tract(1)	23	Hepatocellular(127;0.213)		Lung(238;0.00047)|LUAD - Lung adenocarcinoma(48;0.000565)	GBM - Glioblastoma multiforme(112;0.0151)		CACTCGGATGCGTCTCTGCCC	0.418																																																	0													151.0	133.0	139.0					14																	39530996		2203	4300	6503	SO:0001583	missense	10484			X97064	CCDS9668.1	14q21.1	2008-05-14	2001-11-28		ENSG00000100934	ENSG00000100934			10701	protein-coding gene	gene with protein product		610511	"""Sec23 (S. cerevisiae) homolog A"""			8898360, 10329445	Standard	NM_006364		Approved		uc001wup.1	Q15436	OTTHUMG00000028812	ENST00000307712.6:c.1478G>A	14.37:g.39530996C>T	ENSP00000306881:p.Arg493His	Somatic		WXS	Illumina HiSeq	Phase_IV	B2R5P4|B3KXI2|Q8NE16	Missense_Mutation	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,superfamily_Znf_Sec23_Sec24	p.R493H	ENST00000307712.6	37	c.1478	CCDS9668.1	14	.	.	.	.	.	.	.	.	.	.	C	32	5.146471	0.94603	.	.	ENSG00000100934	ENST00000537403;ENST00000307712;ENST00000536508;ENST00000545328;ENST00000554645	T;T;T;T	0.80033	-1.33;-1.33;-1.33;-1.33	5.4	5.4	0.78164	Sec23/Sec24 beta-sandwich (1);	0.000000	0.85682	D	0.000000	D	0.84933	0.5582	M	0.81682	2.555	0.80722	D	1	D;D;P;D	0.65815	0.995;0.976;0.785;0.981	P;B;B;P	0.46917	0.481;0.301;0.301;0.531	D	0.85652	0.1283	10	0.41790	T	0.15	-8.0367	19.5304	0.95226	0.0:1.0:0.0:0.0	.	381;464;367;493	G3V531;F5H365;F5H6C4;Q15436	.;.;.;SC23A_HUMAN	H	291;493;367;464;381	ENSP00000444193:R291H;ENSP00000306881:R493H;ENSP00000437715:R367H;ENSP00000445393:R464H	ENSP00000306881:R493H	R	-	2	0	SEC23A	38600747	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	7.685000	0.84117	2.675000	0.91044	0.655000	0.94253	CGC	SEC23A	-	pfam_Sec23_24_beta_S		0.418	SEC23A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SEC23A	HGNC	protein_coding	OTTHUMT00000276728.2	C			39530996	-1	no_errors	ENST00000307712	ensembl	human	known	70_37	missense	SNP	1.000	T
SEMA4C	54910	genome.wustl.edu	37	2	97533520	97533520	+	Missense_Mutation	SNP	G	G	A			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr2:97533520G>A	ENST00000305476.5	-	2	236	c.104C>T	c.(103-105)tCt>tTt	p.S35F		NM_017789.4	NP_060259.4	Q9C0C4	SEM4C_HUMAN	sema domain, immunoglobulin domain (Ig), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 4C	35	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				cell migration in hindbrain (GO:0021535)|cerebellum development (GO:0021549)|muscle cell differentiation (GO:0042692)|neural tube closure (GO:0001843)|positive regulation of stress-activated MAPK cascade (GO:0032874)|semaphorin-plexin signaling pathway (GO:0071526)	cell junction (GO:0030054)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|synaptic vesicle membrane (GO:0030672)	receptor activity (GO:0004872)			NS(1)|kidney(1)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	17						CTCACCCCCAGAAGACACTGT	0.622																																																	0													158.0	146.0	150.0					2																	97533520		2203	4300	6503	SO:0001583	missense	54910			AB051526	CCDS2029.1	2q11.2	2013-01-11			ENSG00000168758	ENSG00000168758		"""Semaphorins"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10731	protein-coding gene	gene with protein product	"""M-Sema F"""	604462		SEMAI		7656991	Standard	NM_017789		Approved	Semacl1, Semaf	uc002sxh.4	Q9C0C4	OTTHUMG00000130535	ENST00000305476.5:c.104C>T	2.37:g.97533520G>A	ENSP00000306844:p.Ser35Phe	Somatic		WXS	Illumina HiSeq	Phase_IV	Q32MJ3|Q7Z5X0	Missense_Mutation	SNP	pfam_Semaphorin/CD100_Ag,pfam_Plexin_repeat,superfamily_Semaphorin/CD100_Ag,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,smart_Plexin-like,smart_Ig_sub,pfscan_Semaphorin/CD100_Ag,pfscan_Ig-like	p.S35F	ENST00000305476.5	37	c.104	CCDS2029.1	2	.	.	.	.	.	.	.	.	.	.	G	9.578	1.122770	0.20877	.	.	ENSG00000168758	ENST00000305476;ENST00000442264;ENST00000449330	T;T;T	0.42513	1.59;0.97;0.97	4.3	3.34	0.38264	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (2);	0.474856	0.17768	N	0.162688	T	0.17577	0.0422	N	0.03238	-0.38	0.34009	D	0.651224	B	0.12630	0.006	B	0.08055	0.003	T	0.19224	-1.0312	10	0.18710	T	0.47	.	8.435	0.32782	0.0:0.0:0.7485:0.2515	.	35	Q9C0C4	SEM4C_HUMAN	F	35	ENSP00000306844:S35F;ENSP00000393498:S35F;ENSP00000391094:S35F	ENSP00000306844:S35F	S	-	2	0	SEMA4C	96897247	0.994000	0.37717	1.000000	0.80357	0.836000	0.47400	1.037000	0.30241	2.224000	0.72417	0.491000	0.48974	TCT	SEMA4C	-	superfamily_Semaphorin/CD100_Ag,pfscan_Semaphorin/CD100_Ag		0.622	SEMA4C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SEMA4C	HGNC	protein_coding	OTTHUMT00000252957.1	G	NM_017789		97533520	-1	no_errors	ENST00000305476	ensembl	human	known	70_37	missense	SNP	1.000	A
SEMA6B	10501	genome.wustl.edu	37	19	4548371	4548371	+	Missense_Mutation	SNP	G	G	A	rs186951396		TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr19:4548371G>A	ENST00000586582.1	-	13	1668	c.1358C>T	c.(1357-1359)aCg>aTg	p.T453M	SEMA6B_ENST00000586965.1_Missense_Mutation_p.T453M|RN7SL121P_ENST00000584223.1_RNA|SEMA6B_ENST00000301293.3_Missense_Mutation_p.T453M	NM_032108.3	NP_115484.2	Q9H3T3	SEM6B_HUMAN	sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6B	453	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				cell differentiation (GO:0030154)|nervous system development (GO:0007399)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			breast(1)|central_nervous_system(2)|large_intestine(4)|lung(11)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0149)|STAD - Stomach adenocarcinoma(1328;0.18)		CTTGAGGACCGTCCCCGCCTC	0.652																																																	0													54.0	54.0	54.0					19																	4548371		2203	4300	6503	SO:0001583	missense	10501			AB022433	CCDS12131.1	19p13.3	2008-07-22				ENSG00000167680		"""Semaphorins"""	10739	protein-coding gene	gene with protein product	"""Sema VIb"", ""semaphorin Z"", ""semaphorin VIB"""	608873		SEMAN		9361278	Standard	NM_032108		Approved	semaZ, SEMA-VIB, SEM-SEMA-Y	uc010dud.2	Q9H3T3		ENST00000586582.1:c.1358C>T	19.37:g.4548371G>A	ENSP00000467290:p.Thr453Met	Somatic		WXS	Illumina HiSeq	Phase_IV	A5PKU4|F6IB19|Q9NRK9	Missense_Mutation	SNP	pfam_Semaphorin/CD100_Ag,pfam_Plexin_repeat,superfamily_Semaphorin/CD100_Ag,superfamily_Plexin-like_fold,smart_Semaphorin/CD100_Ag,pfscan_Semaphorin/CD100_Ag	p.T453M	ENST00000586582.1	37	c.1358	CCDS12131.1	19	.	.	.	.	.	.	.	.	.	.	.	15.61	2.884162	0.51908	.	.	ENSG00000167680	ENST00000301293;ENST00000301292	T	0.12361	2.69	4.01	4.01	0.46588	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.154312	0.56097	D	0.000024	T	0.36880	0.0983	M	0.77406	2.37	0.39352	D	0.965771	P;D	0.76494	0.892;0.999	P;D	0.70935	0.487;0.971	T	0.34925	-0.9809	10	0.49607	T	0.09	.	14.9113	0.70758	0.0:0.0:1.0:0.0	.	453;453	B4DT36;Q9H3T3	.;SEM6B_HUMAN	M	453	ENSP00000301293:T453M	ENSP00000301292:T453M	T	-	2	0	SEMA6B	4499371	1.000000	0.71417	0.830000	0.32933	0.483000	0.33249	3.617000	0.54181	2.086000	0.62901	0.485000	0.47835	ACG	SEMA6B	-	pfam_Semaphorin/CD100_Ag,superfamily_Semaphorin/CD100_Ag,smart_Semaphorin/CD100_Ag,pfscan_Semaphorin/CD100_Ag		0.652	SEMA6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SEMA6B	HGNC	protein_coding	OTTHUMT00000458656.2	G	NM_032108		4548371	-1	no_errors	ENST00000301293	ensembl	human	known	70_37	missense	SNP	0.998	A
SERINC2	347735	genome.wustl.edu	37	1	31898746	31898746	+	Missense_Mutation	SNP	G	G	A	rs374319929		TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr1:31898746G>A	ENST00000373709.3	+	5	746	c.596G>A	c.(595-597)cGt>cAt	p.R199H	SERINC2_ENST00000536384.1_Missense_Mutation_p.R203H|SERINC2_ENST00000491976.1_3'UTR|SERINC2_ENST00000536859.1_Missense_Mutation_p.R203H|SERINC2_ENST00000373710.1_Missense_Mutation_p.R208H	NM_178865.4	NP_849196.2	Q96SA4	SERC2_HUMAN	serine incorporator 2	199					phosphatidylserine metabolic process (GO:0006658)|positive regulation of transferase activity (GO:0051347)|sphingolipid metabolic process (GO:0006665)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	L-serine transmembrane transporter activity (GO:0015194)			cervix(1)|endometrium(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(2)	12		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0308)|all_neural(195;0.0629)|Breast(348;0.0707)|Medulloblastoma(700;0.123)		STAD - Stomach adenocarcinoma(196;0.0541)|READ - Rectum adenocarcinoma(331;0.151)		TGCGATTCCCGTGCCTGGTAC	0.637																																																	0								G	HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG	0,4406		0,0,2203	73.0	53.0	60.0		608,623,431,608,596	3.2	0.8	1		60	1,8599		0,1,4299	no	missense,missense,missense,missense,missense	SERINC2	NM_001199037.1,NM_001199038.1,NM_001199039.1,NM_018565.3,NM_178865.4	29,29,29,29,29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	203/460,208/465,144/401,203/460,199/456	31898746	1,13005	2203	4300	6503	SO:0001583	missense	347735			AY094595	CCDS30662.1, CCDS55583.1, CCDS55584.1, CCDS55585.1	1p35.1	2008-02-05	2005-11-01	2005-11-01	ENSG00000168528	ENSG00000168528			23231	protein-coding gene	gene with protein product		614549	"""tumor differentially expressed 2-like"""	TDE2L		12949800	Standard	NM_178865		Approved	FKSG84, PRO0899, TDE2	uc010ogh.2	Q96SA4	OTTHUMG00000003796	ENST00000373709.3:c.596G>A	1.37:g.31898746G>A	ENSP00000362813:p.Arg199His	Somatic		WXS	Illumina HiSeq	Phase_IV	A0AVB4|B4DJK5|B7Z567|B7ZAP2|E7EUZ9|Q86Y23	Missense_Mutation	SNP	pfam_TMS_TDE	p.R208H	ENST00000373709.3	37	c.623	CCDS30662.1	1	.	.	.	.	.	.	.	.	.	.	G	12.30	1.896052	0.33442	0.0	1.16E-4	ENSG00000168528	ENST00000373710;ENST00000536859;ENST00000373709;ENST00000536384	T;T;T;T	0.15256	2.44;2.44;2.44;2.44	4.11	3.16	0.36331	.	0.119672	0.53938	D	0.000050	T	0.31918	0.0812	M	0.70842	2.15	0.09310	N	1	D;D;D	0.71674	0.998;0.998;0.99	D;D;P	0.67900	0.954;0.954;0.871	T	0.11421	-1.0588	10	0.87932	D	0	-17.7888	3.5949	0.08002	0.2331:0.2424:0.5245:0.0	.	203;208;199	B4DJK5;E7EUZ9;Q96SA4	.;.;SERC2_HUMAN	H	208;203;199;203	ENSP00000362814:R208H;ENSP00000444307:R203H;ENSP00000362813:R199H;ENSP00000439048:R203H	ENSP00000362813:R199H	R	+	2	0	SERINC2	31671333	0.147000	0.22687	0.758000	0.31321	0.081000	0.17604	1.885000	0.39678	1.036000	0.39998	0.491000	0.48974	CGT	SERINC2	-	pfam_TMS_TDE		0.637	SERINC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SERINC2	HGNC	protein_coding	OTTHUMT00000010680.1	G	NM_018565		31898746	+1	no_errors	ENST00000373710	ensembl	human	known	70_37	missense	SNP	0.006	A
SET	6418	genome.wustl.edu	37	9	131457173	131457173	+	3'UTR	SNP	T	T	G			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr9:131457173T>G	ENST00000372692.4	+	0	1344				SET_ENST00000322030.8_3'UTR|SET_ENST00000372688.4_3'UTR	NM_001122821.1	NP_001116293.1	Q01105	SET_HUMAN	SET nuclear proto-oncogene						DNA replication (GO:0006260)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of catalytic activity (GO:0043086)|negative regulation of histone acetylation (GO:0035067)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleocytoplasmic transport (GO:0006913)|nucleosome assembly (GO:0006334)|nucleosome disassembly (GO:0006337)|regulation of catalytic activity (GO:0050790)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|protein complex (GO:0043234)	DNA binding (GO:0003677)|histone binding (GO:0042393)|protein phosphatase inhibitor activity (GO:0004864)|protein phosphatase type 2A regulator activity (GO:0008601)			endometrium(2)|kidney(1)|lung(2)	5		Myeloproliferative disorder(178;0.204)		GBM - Glioblastoma multiforme(294;3.1e-09)		GAAGTTCATTTTTATCCCTTC	0.433			T	NUP214	AML																																			Dom	yes		9	9q34	6418	SET translocation		L	0																																										SO:0001624	3_prime_UTR_variant	6418			M93651	CCDS6907.1, CCDS48037.1, CCDS59149.1, CCDS59150.1	9q34	2014-06-25	2014-06-25		ENSG00000119335	ENSG00000119335			10760	protein-coding gene	gene with protein product	"""protein phosphatase type 2A inhibitor"", ""Template-Activating Factor-I, chromatin remodelling factor"""	600960	"""SET translocation (myeloid leukemia-associated)"""			1630450, 8626647	Standard	NM_003011		Approved	PHAPII, 2PP2A, IPP2A2	uc022bol.1	Q01105	OTTHUMG00000020755	ENST00000372692.4:c.*230T>G	9.37:g.131457173T>G		Somatic		WXS	Illumina HiSeq	Phase_IV	A5A5H4|A6NGV1|B4DUE2|Q15541|Q5VXV1|Q5VXV2|Q6FHZ5	RNA	SNP	-	NULL	ENST00000372692.4	37	NULL	CCDS48037.1	9																																																																																			SET	-	-		0.433	SET-001	KNOWN	basic|CCDS	protein_coding	SET	HGNC	protein_coding	OTTHUMT00000054476.2	T	NM_001122821		131457173	+1	no_errors	ENST00000494141	ensembl	human	known	70_37	rna	SNP	1.000	G
SGK2	10110	genome.wustl.edu	37	20	42198062	42198062	+	Missense_Mutation	SNP	A	A	C			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr20:42198062A>C	ENST00000341458.4	+	5	665	c.446A>C	c.(445-447)aAg>aCg	p.K149T	SGK2_ENST00000426287.1_Missense_Mutation_p.K115T|SGK2_ENST00000423407.3_Missense_Mutation_p.K89T|SGK2_ENST00000373100.1_Missense_Mutation_p.K89T|SGK2_ENST00000373077.1_Missense_Mutation_p.K88T|SGK2_ENST00000373092.3_Missense_Mutation_p.K89T	NM_016276.3	NP_057360.2	Q9HBY8	SGK2_HUMAN	serum/glucocorticoid regulated kinase 2	149	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				intracellular signal transduction (GO:0035556)|ion transmembrane transport (GO:0034220)|positive regulation of transporter activity (GO:0032411)|protein phosphorylation (GO:0006468)|regulation of cell growth (GO:0001558)|regulation of cell proliferation (GO:0042127)|response to oxidative stress (GO:0006979)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|potassium channel regulator activity (GO:0015459)|protein serine/threonine kinase activity (GO:0004674)|sodium channel regulator activity (GO:0017080)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(11)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		Myeloproliferative disorder(115;0.00452)	COAD - Colon adenocarcinoma(18;0.0031)			GTGCTTCTGAAGAACGTGCGG	0.582																																																	0													90.0	67.0	75.0					20																	42198062		2203	4300	6503	SO:0001583	missense	10110			AF169034	CCDS13320.1, CCDS13321.1	20q13.2	2008-07-04			ENSG00000101049	ENSG00000101049			13900	protein-coding gene	gene with protein product		607589				10548550	Standard	NM_016276		Approved		uc002xkv.3	Q9HBY8	OTTHUMG00000033054	ENST00000341458.4:c.446A>C	20.37:g.42198062A>C	ENSP00000340608:p.Lys149Thr	Somatic		WXS	Illumina HiSeq	Phase_IV	Q52PK5|Q5H8Y6|Q5H8Z1|Q5TZR3|Q9UKG6	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Pkinase_C,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_AGC-kinase_C,pfscan_Prot_kinase_cat_dom	p.K149T	ENST00000341458.4	37	c.446	CCDS13320.1	20	.	.	.	.	.	.	.	.	.	.	A	21.6	4.166014	0.78339	.	.	ENSG00000101049	ENST00000373100;ENST00000373092;ENST00000373077;ENST00000412111;ENST00000423407;ENST00000341458;ENST00000426287	T;T;T;T;T;T;T	0.67523	-0.27;-0.27;-0.27;-0.27;-0.27;-0.27;-0.27	4.24	4.24	0.50183	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	0.85682	D	0.000000	T	0.73489	0.3593	L	0.44542	1.39	0.80722	D	1	P;P;D	0.67145	0.84;0.82;0.996	P;P;D	0.66497	0.723;0.853;0.944	T	0.76713	-0.2858	10	0.87932	D	0	.	13.0383	0.58885	1.0:0.0:0.0:0.0	.	115;149;89	Q9HBY8-3;Q9HBY8;Q9HBY8-2	.;SGK2_HUMAN;.	T	89;89;88;88;89;149;115	ENSP00000362192:K89T;ENSP00000362184:K89T;ENSP00000362168:K88T;ENSP00000396222:K88T;ENSP00000392795:K89T;ENSP00000340608:K149T;ENSP00000412214:K115T	ENSP00000340608:K149T	K	+	2	0	SGK2	41631476	1.000000	0.71417	1.000000	0.80357	0.699000	0.40488	9.255000	0.95524	1.873000	0.54277	0.454000	0.30748	AAG	SGK2	-	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		0.582	SGK2-002	KNOWN	basic|CCDS	protein_coding	SGK2	HGNC	protein_coding	OTTHUMT00000080383.1	A			42198062	+1	no_errors	ENST00000341458	ensembl	human	known	70_37	missense	SNP	1.000	C
SH2D3A	10045	genome.wustl.edu	37	19	6760703	6760703	+	Missense_Mutation	SNP	C	C	T	rs372429785		TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr19:6760703C>T	ENST00000245908.6	-	3	634	c.365G>A	c.(364-366)cGc>cAc	p.R122H	SH2D3A_ENST00000599563.1_5'UTR|SH2D3A_ENST00000437152.3_Intron	NM_005490.2	NP_005481.2	Q9BRG2	SH23A_HUMAN	SH2 domain containing 3A	122					JNK cascade (GO:0007254)|positive regulation of signal transduction (GO:0009967)|small GTPase mediated signal transduction (GO:0007264)		guanyl-nucleotide exchange factor activity (GO:0005085)|SH3/SH2 adaptor activity (GO:0005070)			breast(3)|endometrium(3)|kidney(1)|large_intestine(4)|lung(9)|skin(3)|urinary_tract(1)	24						GCTAAAGCTGCGTCGCAGAGG	0.617																																																	0													42.0	40.0	41.0					19																	6760703		2203	4300	6503	SO:0001583	missense	10045			AF124249	CCDS12173.1	19p13.3	2013-02-14	2002-01-14			ENSG00000125731		"""SH2 domain containing"""	16885	protein-coding gene	gene with protein product		604721	"""SH2 domain-containing 3A"""			10187783	Standard	NM_005490		Approved	NSP1	uc002mft.3	Q9BRG2		ENST00000245908.6:c.365G>A	19.37:g.6760703C>T	ENSP00000245908:p.Arg122His	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K9R6|B4DRS7|Q9Y2X4	Missense_Mutation	SNP	pfam_SH2,pfam_RasGRF_CDC25,superfamily_Ras_GEF_dom,smart_SH2,smart_RasGRF_CDC25,pfscan_SH2,prints_SH2	p.R122H	ENST00000245908.6	37	c.365	CCDS12173.1	19	.	.	.	.	.	.	.	.	.	.	C	8.760	0.923398	0.18056	.	.	ENSG00000125731	ENST00000245908	T	0.14391	2.51	4.97	1.68	0.24146	.	0.000000	0.42964	D	0.000625	T	0.10594	0.0259	L	0.60455	1.87	0.21105	N	0.999789	B	0.21225	0.053	B	0.12837	0.008	T	0.32824	-0.9892	10	0.17369	T	0.5	-14.3404	4.2819	0.10836	0.1808:0.6308:0.0:0.1884	.	122	Q9BRG2	SH23A_HUMAN	H	122	ENSP00000245908:R122H	ENSP00000245908:R122H	R	-	2	0	SH2D3A	6711703	0.654000	0.27367	0.433000	0.26760	0.049000	0.14656	0.177000	0.16801	0.292000	0.22492	-0.266000	0.10368	CGC	SH2D3A	-	NULL		0.617	SH2D3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SH2D3A	HGNC	protein_coding	OTTHUMT00000458016.1	C	NM_005490		6760703	-1	no_errors	ENST00000245908	ensembl	human	known	70_37	missense	SNP	0.249	T
SH3BP2	6452	genome.wustl.edu	37	4	2831361	2831361	+	Missense_Mutation	SNP	G	G	A			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr4:2831361G>A	ENST00000356331.5	+	8	989	c.728G>A	c.(727-729)gGc>gAc	p.G243D	SH3BP2_ENST00000503393.2_Missense_Mutation_p.G300D|SH3BP2_ENST00000452765.2_Missense_Mutation_p.G243D|SH3BP2_ENST00000442312.2_Missense_Mutation_p.G271D|SH3BP2_ENST00000515183.1_3'UTR|SH3BP2_ENST00000435136.2_Missense_Mutation_p.G243D|SH3BP2_ENST00000511747.1_Missense_Mutation_p.G243D	NM_003023.4	NP_003014.3	P78314	3BP2_HUMAN	SH3-domain binding protein 2	243					positive regulation of signal transduction (GO:0009967)|signal transduction (GO:0007165)		SH3/SH2 adaptor activity (GO:0005070)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	20				UCEC - Uterine corpus endometrioid carcinoma (64;0.164)		CCTAAGCACGGCCTCCCAGAT	0.692									Cherubism																																								0													35.0	41.0	39.0					4																	2831361		2203	4300	6503	SO:0001583	missense	6452	Familial Cancer Database	Familial Benign Giant-cell Tumor of the Jaw, Familial Multilocular Cystic Disease	BC022996	CCDS33944.1, CCDS54715.1, CCDS54716.1	4p16.3	2013-02-14				ENSG00000087266		"""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	10825	protein-coding gene	gene with protein product		602104	"""Cherubism"""			9299232, 11381256	Standard	NM_003023		Approved	RES4-23, CRBM	uc003gfj.4	P78314		ENST00000356331.5:c.728G>A	4.37:g.2831361G>A	ENSP00000348685:p.Gly243Asp	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NNC2|B2R5R6|B4DT04|D3DVR0|D6R919|O00500|O15373|P78315	Missense_Mutation	SNP	pfam_Pleckstrin_homology,pfam_SH2,smart_Pleckstrin_homology,smart_SH2,pfscan_Pleckstrin_homology,pfscan_SH2	p.G300D	ENST00000356331.5	37	c.899	CCDS33944.1	4	.	.	.	.	.	.	.	.	.	.	g	16.72	3.202401	0.58234	.	.	ENSG00000087266	ENST00000452765;ENST00000442312;ENST00000435136;ENST00000511747;ENST00000503393;ENST00000356331	D;D;D;D;D;D	0.95307	-3.67;-3.67;-3.67;-3.67;-3.67;-3.67	5.33	3.57	0.40892	.	0.698988	0.14454	N	0.318565	D	0.95522	0.8545	M	0.64997	1.995	0.80722	D	1	D;D;D;D;D	0.89917	0.996;1.0;1.0;1.0;1.0	P;D;D;D;D	0.97110	0.896;0.999;1.0;0.999;0.999	D	0.92226	0.5788	10	0.13853	T	0.58	-16.5706	9.5716	0.39431	0.0764:0.0:0.7838:0.1399	.	271;218;218;300;243	B4DT04;Q6ZVU3;Q6ZTK4;D6R919;P78314	.;.;.;.;3BP2_HUMAN	D	243;271;243;243;300;243	ENSP00000409746:G243D;ENSP00000388152:G271D;ENSP00000403231:G243D;ENSP00000424846:G243D;ENSP00000422168:G300D;ENSP00000348685:G243D	ENSP00000348685:G243D	G	+	2	0	SH3BP2	2801159	0.993000	0.37304	0.335000	0.25508	0.533000	0.34776	2.406000	0.44557	1.242000	0.43836	0.651000	0.88453	GGC	SH3BP2	-	NULL		0.692	SH3BP2-007	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	SH3BP2	HGNC	protein_coding	OTTHUMT00000362406.2	G	NM_003023		2831361	+1	no_errors	ENST00000503393	ensembl	human	known	70_37	missense	SNP	0.870	A
SH3RF1	57630	genome.wustl.edu	37	4	170077646	170077646	+	Missense_Mutation	SNP	G	G	A			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr4:170077646G>A	ENST00000284637.9	-	3	919	c.578C>T	c.(577-579)cCg>cTg	p.P193L	SH3RF1_ENST00000508685.1_5'UTR	NM_020870.3	NP_065921.2	Q7Z6J0	SH3R1_HUMAN	SH3 domain containing ring finger 1	193	SH3 1. {ECO:0000255|PROSITE- ProRule:PRU00192}.				negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|protein ubiquitination (GO:0016567)|regulation of JNK cascade (GO:0046328)	cell projection (GO:0042995)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(10)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	31		Prostate(90;0.00267)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0287)		CTGAGGTAACGGTTTAATAAT	0.423																																																	0													186.0	188.0	187.0					4																	170077646		2203	4300	6503	SO:0001583	missense	57630			BC033203	CCDS34099.1	4q32.3	2013-01-09	2006-02-13	2006-02-13	ENSG00000154447	ENSG00000154447		"""RING-type (C3HC4) zinc fingers"""	17650	protein-coding gene	gene with protein product	"""plenty of SH3 domains"""		"""SH3 multiple domains 2"""	SH3MD2		9482736	Standard	NM_020870		Approved	POSH, RNF142, KIAA1494	uc003isa.1	Q7Z6J0	OTTHUMG00000161010	ENST00000284637.9:c.578C>T	4.37:g.170077646G>A	ENSP00000284637:p.Pro193Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	Q05BT2|Q8IW46|Q9HAM2|Q9P234	Missense_Mutation	SNP	pfam_SH3_domain,pfam_SH3_2,pfam_Znf_C3HC4_RING-type,superfamily_SH3_domain,smart_Znf_RING,smart_SH3_domain,pfscan_SH3_domain,pfscan_Znf_RING,prints_p67phox,prints_SH3_domain	p.P193L	ENST00000284637.9	37	c.578	CCDS34099.1	4	.	.	.	.	.	.	.	.	.	.	G	26.3	4.719768	0.89205	.	.	ENSG00000154447	ENST00000284637	T	0.29917	1.55	5.76	5.76	0.90799	Src homology-3 domain (2);	0.137998	0.64402	D	0.000002	T	0.47525	0.1450	M	0.93197	3.39	0.80722	D	1	P	0.40230	0.708	B	0.33121	0.158	T	0.63808	-0.6553	10	0.66056	D	0.02	-22.5309	20.3242	0.98691	0.0:0.0:1.0:0.0	.	193	Q7Z6J0	SH3R1_HUMAN	L	193	ENSP00000284637:P193L	ENSP00000284637:P193L	P	-	2	0	SH3RF1	170314221	1.000000	0.71417	0.967000	0.41034	0.870000	0.49936	9.420000	0.97426	2.882000	0.98803	0.655000	0.94253	CCG	SH3RF1	-	superfamily_SH3_domain,pfscan_SH3_domain		0.423	SH3RF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SH3RF1	HGNC	protein_coding	OTTHUMT00000363382.3	G	NM_020870		170077646	-1	no_errors	ENST00000284637	ensembl	human	known	70_37	missense	SNP	1.000	A
SHANK2	22941	genome.wustl.edu	37	11	70319407	70319407	+	Missense_Mutation	SNP	C	C	T			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr11:70319407C>T	ENST00000423696.2	-	16	4016	c.3980G>A	c.(3979-3981)cGt>cAt	p.R1327H	SHANK2_ENST00000449833.2_Missense_Mutation_p.R1111H|SHANK2_ENST00000338508.4_Missense_Mutation_p.R1707H|SHANK2_ENST00000409161.1_Missense_Mutation_p.R1110H			Q9UPX8	SHAN2_HUMAN	SH3 and multiple ankyrin repeat domains 2	1327					adult behavior (GO:0030534)|learning (GO:0007612)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|vocalization behavior (GO:0071625)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|cell junction (GO:0030054)|ciliary membrane (GO:0060170)|cytoplasm (GO:0005737)|dendritic spine (GO:0043197)|growth cone (GO:0030426)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	GKAP/Homer scaffold activity (GO:0030160)|ionotropic glutamate receptor binding (GO:0035255)			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(30)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	62			LUSC - Lung squamous cell carcinoma(11;4.72e-09)|STAD - Stomach adenocarcinoma(18;0.071)			GCTTGGGGCACGTCTTGTTCC	0.637																																																	0													53.0	53.0	53.0					11																	70319407		2200	4294	6494	SO:0001583	missense	22941			AF141901		11q13.2	2013-01-10			ENSG00000162105	ENSG00000162105		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	14295	protein-coding gene	gene with protein product		603290	"""cortactin binding protein 1"""	CORTBP1		10506216	Standard	XM_005277930		Approved	CTTNBP1, ProSAP1, SHANK, SPANK-3	uc001oqc.3	Q9UPX8	OTTHUMG00000154615	ENST00000423696.2:c.3980G>A	11.37:g.70319407C>T	ENSP00000394536:p.Arg1327His	Somatic		WXS	Illumina HiSeq	Phase_IV	C0SPG8|C0SPG9|Q3Y8G9|Q52LK2|Q9UKP1	Missense_Mutation	SNP	pfam_SAM_type1,pfam_SAM_2,pfam_SH3_2,pfam_PDZ,pfam_SH3_domain,superfamily_Ankyrin_rpt-contain_dom,superfamily_PDZ,superfamily_SAM/pointed,superfamily_SH3_domain,smart_Ankyrin_rpt,smart_SH3_domain,smart_PDZ,smart_SAM,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_PDZ,pfscan_SAM,pfscan_SH3_domain	p.R1707H	ENST00000423696.2	37	c.5120		11	.	.	.	.	.	.	.	.	.	.	C	19.36	3.812232	0.70797	.	.	ENSG00000162105	ENST00000449833;ENST00000409161;ENST00000424924;ENST00000338508;ENST00000423696;ENST00000433693;ENST00000294018	T;T;T;T;T;T	0.46451	2.15;2.2;2.92;0.87;2.3;2.33	5.91	5.91	0.95273	.	0.430704	0.28914	N	0.013721	T	0.30039	0.0752	N	0.24115	0.695	0.80722	D	1	B;B;B	0.19331	0.005;0.035;0.016	B;B;B	0.17979	0.003;0.02;0.006	T	0.06698	-1.0812	10	0.49607	T	0.09	.	11.2385	0.48955	0.0:0.8907:0.0:0.1093	.	1327;1706;1111	Q9UPX8;Q9UPX8-3;Q9UPX8-4	SHAN2_HUMAN;.;.	H	1111;1110;985;1707;1327;1345;1330	ENSP00000399423:R1111H;ENSP00000386491:R1110H;ENSP00000402944:R985H;ENSP00000345193:R1707H;ENSP00000394536:R1327H;ENSP00000294018:R1330H	ENSP00000294018:R1330H	R	-	2	0	SHANK2	69997055	0.959000	0.32827	0.856000	0.33681	0.994000	0.84299	2.264000	0.43302	2.799000	0.96334	0.650000	0.86243	CGT	SHANK2	-	NULL		0.637	SHANK2-203	KNOWN	basic	protein_coding	SHANK2	HGNC	protein_coding		C	NM_012309		70319407	-1	no_errors	ENST00000338508	ensembl	human	known	70_37	missense	SNP	0.864	T
SHC2	25759	genome.wustl.edu	37	19	422217	422217	+	Missense_Mutation	SNP	C	C	T			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr19:422217C>T	ENST00000264554.6	-	11	1548	c.1549G>A	c.(1549-1551)Ggg>Agg	p.G517R		NM_012435.2	NP_036567.2	P98077	SHC2_HUMAN	SHC (Src homology 2 domain containing) transforming protein 2	517	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				activation of MAPK activity (GO:0000187)|insulin receptor signaling pathway (GO:0008286)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Ras protein signal transduction (GO:0007265)	cytosol (GO:0005829)				endometrium(2)|kidney(1)|large_intestine(2)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	21		all_cancers(10;1.13e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		ACATACTGCCCGGGGTTGGTG	0.677																																																	0													23.0	28.0	26.0					19																	422217		2195	4297	6492	SO:0001583	missense	25759			AB001451	CCDS45891.1	19p13.3	2013-02-14				ENSG00000129946		"""SH2 domain containing"""	29869	protein-coding gene	gene with protein product	"""neuronal Shc adaptor homolog"""	605217				7527937, 9507002	Standard	NM_012435		Approved	SLI, SCK, SHCB	uc002loq.4	P98077		ENST00000264554.6:c.1549G>A	19.37:g.422217C>T	ENSP00000264554:p.Gly517Arg	Somatic		WXS	Illumina HiSeq	Phase_IV	O60230|Q9NPL5|Q9UCX4	Missense_Mutation	SNP	pfam_PTyr_interaction_dom,pfam_SH2,smart_PTyr_interaction_dom,smart_SH2,pfscan_PTyr_interaction_dom,pfscan_SH2,prints_PID_domain,prints_SH2	p.G517R	ENST00000264554.6	37	c.1549	CCDS45891.1	19	.	.	.	.	.	.	.	.	.	.	C	18.68	3.675972	0.67928	.	.	ENSG00000129946	ENST00000264554	D	0.94613	-3.47	4.76	3.72	0.42706	SH2 motif (5);	0.050289	0.85682	N	0.000000	D	0.97464	0.9170	M	0.91300	3.195	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	D	0.98019	1.0370	10	0.87932	D	0	-38.5681	12.7027	0.57043	0.0:0.9169:0.0:0.0831	.	517	P98077	SHC2_HUMAN	R	517	ENSP00000264554:G517R	ENSP00000264554:G517R	G	-	1	0	SHC2	373217	1.000000	0.71417	0.996000	0.52242	0.464000	0.32679	5.523000	0.67099	1.334000	0.45468	-0.119000	0.15052	GGG	SHC2	-	pfam_SH2,smart_SH2,pfscan_SH2,prints_SH2		0.677	SHC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SHC2	HGNC	protein_coding	OTTHUMT00000451840.3	C			422217	-1	no_errors	ENST00000264554	ensembl	human	known	70_37	missense	SNP	1.000	T
SHC2	25759	genome.wustl.edu	37	19	438806	438806	+	Missense_Mutation	SNP	C	C	T			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr19:438806C>T	ENST00000264554.6	-	4	631	c.632G>A	c.(631-633)gGc>gAc	p.G211D		NM_012435.2	NP_036567.2	P98077	SHC2_HUMAN	SHC (Src homology 2 domain containing) transforming protein 2	211	PID. {ECO:0000255|PROSITE- ProRule:PRU00148}.				activation of MAPK activity (GO:0000187)|insulin receptor signaling pathway (GO:0008286)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Ras protein signal transduction (GO:0007265)	cytosol (GO:0005829)				endometrium(2)|kidney(1)|large_intestine(2)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	21		all_cancers(10;1.13e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GTTGCTCTTGCCCAGGACGGA	0.687																																																	0													39.0	45.0	43.0					19																	438806		2096	4189	6285	SO:0001583	missense	25759			AB001451	CCDS45891.1	19p13.3	2013-02-14				ENSG00000129946		"""SH2 domain containing"""	29869	protein-coding gene	gene with protein product	"""neuronal Shc adaptor homolog"""	605217				7527937, 9507002	Standard	NM_012435		Approved	SLI, SCK, SHCB	uc002loq.4	P98077		ENST00000264554.6:c.632G>A	19.37:g.438806C>T	ENSP00000264554:p.Gly211Asp	Somatic		WXS	Illumina HiSeq	Phase_IV	O60230|Q9NPL5|Q9UCX4	Missense_Mutation	SNP	pfam_PTyr_interaction_dom,pfam_SH2,smart_PTyr_interaction_dom,smart_SH2,pfscan_PTyr_interaction_dom,pfscan_SH2,prints_PID_domain,prints_SH2	p.G211D	ENST00000264554.6	37	c.632	CCDS45891.1	19	.	.	.	.	.	.	.	.	.	.	C	26.2	4.712685	0.89112	.	.	ENSG00000129946	ENST00000264554	T	0.13089	2.62	3.67	3.67	0.42095	Phosphotyrosine interaction domain (3);Pleckstrin homology-type (1);	0.000000	0.85682	D	0.000000	T	0.30039	0.0752	L	0.60455	1.87	0.80722	D	1	D	0.54772	0.968	P	0.62740	0.906	T	0.02893	-1.1097	10	0.39692	T	0.17	-42.7234	15.2455	0.73504	0.0:1.0:0.0:0.0	.	211	P98077	SHC2_HUMAN	D	211	ENSP00000264554:G211D	ENSP00000264554:G211D	G	-	2	0	SHC2	389806	1.000000	0.71417	1.000000	0.80357	0.881000	0.50899	7.215000	0.77966	2.006000	0.58801	0.491000	0.48974	GGC	SHC2	-	pfam_PTyr_interaction_dom,smart_PTyr_interaction_dom,pfscan_PTyr_interaction_dom		0.687	SHC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SHC2	HGNC	protein_coding	OTTHUMT00000451840.3	C			438806	-1	no_errors	ENST00000264554	ensembl	human	known	70_37	missense	SNP	1.000	T
SHKBP1	92799	genome.wustl.edu	37	19	41083465	41083465	+	Silent	SNP	C	C	T			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr19:41083465C>T	ENST00000291842.5	+	4	238	c.189C>T	c.(187-189)atC>atT	p.I63I	SHKBP1_ENST00000600733.1_Silent_p.I63I	NM_138392.3	NP_612401.2	Q8TBC3	SHKB1_HUMAN	SH3KBP1 binding protein 1	63	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.				protein homooligomerization (GO:0051260)					breast(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|pancreas(1)|skin(3)|urinary_tract(1)	29			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			TCCCGCAGATCTTCATCGACA	0.592																																																	0													173.0	165.0	168.0					19																	41083465		2203	4300	6503	SO:0001819	synonymous_variant	92799			AF258553	CCDS12560.1	19q13.2	2013-01-10				ENSG00000160410		"""WD repeat domain containing"""	19214	protein-coding gene	gene with protein product						11152963	Standard	NM_138392		Approved	PP203, Sb1	uc002oob.3	Q8TBC3		ENST00000291842.5:c.189C>T	19.37:g.41083465C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q8N2I6|Q8WY93|Q96IB8	Missense_Mutation	SNP	NULL	p.S6F	ENST00000291842.5	37	c.17	CCDS12560.1	19																																																																																			SHKBP1	-	NULL		0.592	SHKBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SHKBP1	HGNC	protein_coding	OTTHUMT00000462613.2	C	NM_138392		41083465	+1	no_errors	ENST00000595523	ensembl	human	known	70_37	missense	SNP	1.000	T
SHROOM1	134549	genome.wustl.edu	37	5	132161042	132161042	+	Missense_Mutation	SNP	G	G	A			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr5:132161042G>A	ENST00000378679.3	-	4	1595	c.791C>T	c.(790-792)gCg>gTg	p.A264V	SHROOM1_ENST00000488072.1_5'Flank|SHROOM1_ENST00000378676.1_Missense_Mutation_p.A264V|SHROOM1_ENST00000319854.3_Missense_Mutation_p.A264V	NM_001172700.1	NP_001166171.1	Q2M3G4	SHRM1_HUMAN	shroom family member 1	264					actin filament bundle assembly (GO:0051017)|cell morphogenesis (GO:0000902)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|myosin II complex (GO:0016460)	actin filament binding (GO:0051015)			endometrium(1)|kidney(4)|large_intestine(2)|lung(4)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	17			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			CTTAGCCAGCGCCGGATGCTG	0.672																																																	0													25.0	26.0	26.0					5																	132161042		2200	4300	6500	SO:0001583	missense	134549			AF314142	CCDS4161.1, CCDS54902.1	5q31.1	2007-05-03			ENSG00000164403	ENSG00000164403			24084	protein-coding gene	gene with protein product		611179				11853319, 16615870	Standard	NM_133456		Approved	APXL2, KIAA1960	uc003kxy.2	Q2M3G4	OTTHUMG00000059835	ENST00000378679.3:c.791C>T	5.37:g.132161042G>A	ENSP00000367950:p.Ala264Val	Somatic		WXS	Illumina HiSeq	Phase_IV	B7WP40|B7ZL01|Q8TDP0|Q8TF41	Missense_Mutation	SNP	pfam_ASD2,pfam_ASD1	p.A264V	ENST00000378679.3	37	c.791	CCDS54902.1	5	.	.	.	.	.	.	.	.	.	.	G	6.817	0.519761	0.13005	.	.	ENSG00000164403	ENST00000378679;ENST00000319854;ENST00000378676;ENST00000440118	T;T;T;T	0.21543	2.0;2.0;2.0;2.0	3.52	-0.68	0.11346	.	0.404834	0.23167	N	0.051165	T	0.08758	0.0217	N	0.08118	0	0.09310	N	1	B;B	0.19706	0.038;0.023	B;B	0.10450	0.005;0.002	T	0.20306	-1.0279	10	0.49607	T	0.09	1.8298	6.7308	0.23383	0.4962:0.0:0.5038:0.0	.	264;264	Q2M3G4-2;Q2M3G4	.;SHRM1_HUMAN	V	264	ENSP00000367950:A264V;ENSP00000324245:A264V;ENSP00000367947:A264V;ENSP00000388049:A264V	ENSP00000324245:A264V	A	-	2	0	SHROOM1	132188941	0.018000	0.18449	0.000000	0.03702	0.045000	0.14185	1.309000	0.33539	-0.299000	0.08909	0.561000	0.74099	GCG	SHROOM1	-	NULL		0.672	SHROOM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SHROOM1	HGNC	protein_coding	OTTHUMT00000133033.1	G	NM_133456		132161042	-1	no_errors	ENST00000378679	ensembl	human	known	70_37	missense	SNP	0.000	A
SHROOM3	57619	genome.wustl.edu	37	4	77476820	77476820	+	Missense_Mutation	SNP	T	T	C	rs375262707		TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr4:77476820T>C	ENST00000296043.6	+	2	1180	c.227T>C	c.(226-228)gTt>gCt	p.V76A		NM_020859.3	NP_065910.3	Q8TF72	SHRM3_HUMAN	shroom family member 3	76	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				actin cytoskeleton organization (GO:0030036)|apical protein localization (GO:0045176)|cell morphogenesis (GO:0000902)|cellular pigment accumulation (GO:0043482)|columnar/cuboidal epithelial cell development (GO:0002066)|neural tube closure (GO:0001843)|pattern specification process (GO:0007389)|regulation of cell shape (GO:0008360)	adherens junction (GO:0005912)|apical junction complex (GO:0043296)|apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|microtubule (GO:0005874)				NS(3)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(10)|kidney(2)|large_intestine(6)|lung(29)|ovary(1)|skin(5)|upper_aerodigestive_tract(1)	60			Lung(101;0.0903)			GGGGATGAGGTTGTGCACATC	0.567																																																	0								T	ALA/VAL	0,4406		0,0,2203	121.0	112.0	115.0		227	3.5	0.9	4		115	1,8599	1.2+/-3.3	0,1,4299	no	missense	SHROOM3	NM_020859.3	64	0,1,6502	CC,CT,TT		0.0116,0.0,0.0077	benign	76/1997	77476820	1,13005	2203	4300	6503	SO:0001583	missense	57619			AB055660	CCDS3579.2	4q21.1	2009-11-25			ENSG00000138771	ENSG00000138771			30422	protein-coding gene	gene with protein product		604570				10589677, 16615870	Standard	NM_020859		Approved	ShrmL, SHRM, KIAA1481, APXL3	uc011cbx.2	Q8TF72	OTTHUMG00000157075	ENST00000296043.6:c.227T>C	4.37:g.77476820T>C	ENSP00000296043:p.Val76Ala	Somatic		WXS	Illumina HiSeq	Phase_IV	Q5QTQ3|Q6ZRW3|Q96IR9|Q9P247	Missense_Mutation	SNP	pfam_ASD2,pfam_ASD1,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.V76A	ENST00000296043.6	37	c.227	CCDS3579.2	4	.	.	.	.	.	.	.	.	.	.	T	14.09	2.432278	0.43122	0.0	1.16E-4	ENSG00000138771	ENST00000296043	T	0.30448	1.53	4.69	3.49	0.39957	PDZ/DHR/GLGF (4);	0.498534	0.16842	N	0.197301	T	0.39911	0.1096	M	0.84773	2.715	0.33052	D	0.532878	B	0.29162	0.235	B	0.32465	0.146	T	0.54417	-0.8297	10	0.87932	D	0	-17.2642	9.5329	0.39205	0.0:0.0826:0.0:0.9174	.	76	Q8TF72	SHRM3_HUMAN	A	76	ENSP00000296043:V76A	ENSP00000296043:V76A	V	+	2	0	SHROOM3	77695844	1.000000	0.71417	0.866000	0.34008	0.606000	0.37113	7.634000	0.83273	0.882000	0.36016	0.383000	0.25322	GTT	SHROOM3	-	pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ		0.567	SHROOM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SHROOM3	HGNC	protein_coding	OTTHUMT00000252408.2	T	NM_020859		77476820	+1	no_errors	ENST00000296043	ensembl	human	known	70_37	missense	SNP	0.988	C
SIGLEC12	89858	genome.wustl.edu	37	19	52003582	52003582	+	Intron	SNP	C	C	A			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr19:52003582C>A	ENST00000291707.3	-	2	483				SIGLEC12_ENST00000598614.1_Missense_Mutation_p.G16C	NM_053003.2	NP_443729.1	Q96PQ1	SIG12_HUMAN	sialic acid binding Ig-like lectin 12 (gene/pseudogene)						cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			NS(2)|biliary_tract(1)|breast(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(8)|liver(1)|lung(23)|ovary(4)|prostate(2)|skin(8)|stomach(3)|upper_aerodigestive_tract(2)	61		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00161)|OV - Ovarian serous cystadenocarcinoma(262;0.0102)		TCAGCCCAGCCCCCACTGTCC	0.607																																																	0													39.0	35.0	36.0					19																	52003582		2203	4300	6503	SO:0001627	intron_variant	89858			AF282256	CCDS12833.1, CCDS59416.1	19q13.41	2013-01-29	2011-06-29	2004-10-20	ENSG00000254521	ENSG00000254521		"""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	15482	protein-coding gene	gene with protein product		606094	"""SIGLEC-like 1"", ""sialic acid binding Ig-like lectin 12"""	SIGLECL1		11409877, 11328818, 21555517	Standard	NM_053003		Approved	SLG, S2V, Siglec-XII, Siglec-12, Siglec-L1	uc002pwx.1	Q96PQ1	OTTHUMG00000165524	ENST00000291707.3:c.428-28G>T	19.37:g.52003582C>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q8IYH7	Missense_Mutation	SNP	pfam_Ig_V-set,pfam_Ig_I-set,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.G16C	ENST00000291707.3	37	c.46	CCDS12833.1	19																																																																																			SIGLEC12	-	NULL		0.607	SIGLEC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SIGLEC12	HGNC	protein_coding	OTTHUMT00000384641.2	C	NM_053003		52003582	-1	no_errors	ENST00000598614	ensembl	human	putative	70_37	missense	SNP	0.005	A
SKA1	220134	genome.wustl.edu	37	18	47917639	47917639	+	Missense_Mutation	SNP	G	G	C			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr18:47917639G>C	ENST00000285116.3	+	6	806	c.595G>C	c.(595-597)Gat>Cat	p.D199H	SKA1_ENST00000398452.2_Missense_Mutation_p.D199H|SKA1_ENST00000417656.2_Missense_Mutation_p.D153H|SKA1_ENST00000488454.1_Missense_Mutation_p.D48H	NM_001039535.2|NM_145060.3	NP_001034624.1|NP_659497.1	Q96BD8	SKA1_HUMAN	spindle and kinetochore associated complex subunit 1	199					cell division (GO:0051301)|chromosome segregation (GO:0007059)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|regulation of microtubule polymerization or depolymerization (GO:0031110)	condensed chromosome outer kinetochore (GO:0000940)|cytosol (GO:0005829)|microtubule cytoskeleton (GO:0015630)|spindle microtubule (GO:0005876)	microtubule binding (GO:0008017)			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(6)|ovary(1)|prostate(1)	13						CAGATTTATTGATGAAGAAAC	0.328																																																	0													64.0	66.0	65.0					18																	47917639		2202	4300	6502	SO:0001583	missense	220134			BC015706	CCDS11946.1	18q21.1	2013-01-17	2009-08-19	2009-08-19	ENSG00000154839	ENSG00000154839			28109	protein-coding gene	gene with protein product			"""chromosome 18 open reading frame 24"""	C18orf24		17093495	Standard	NM_145060		Approved	MGC10200	uc002leu.3	Q96BD8	OTTHUMG00000132685	ENST00000285116.3:c.595G>C	18.37:g.47917639G>C	ENSP00000285116:p.Asp199His	Somatic		WXS	Illumina HiSeq	Phase_IV	B2R9Y6|B4E0P4	Missense_Mutation	SNP	pfam_DUF1395	p.D199H	ENST00000285116.3	37	c.595	CCDS11946.1	18	.	.	.	.	.	.	.	.	.	.	G	15.59	2.878749	0.51801	.	.	ENSG00000154839	ENST00000285116;ENST00000417656;ENST00000398452	T;T;T	0.55052	0.54;0.54;0.54	6.02	1.6	0.23607	.	0.414434	0.29715	N	0.011395	T	0.47135	0.1429	L	0.40543	1.245	0.38405	D	0.945769	P;P	0.38335	0.573;0.627	B;P	0.45998	0.366;0.5	T	0.47446	-0.9117	10	0.72032	D	0.01	-8.586	6.7755	0.23617	0.2115:0.1441:0.6444:0.0	.	153;199	Q96BD8-2;Q96BD8	.;SKA1_HUMAN	H	199;153;199	ENSP00000285116:D199H;ENSP00000397222:D153H;ENSP00000381470:D199H	ENSP00000285116:D199H	D	+	1	0	SKA1	46171637	1.000000	0.71417	0.998000	0.56505	0.989000	0.77384	3.463000	0.53050	0.257000	0.21650	-0.137000	0.14449	GAT	SKA1	-	pfam_DUF1395		0.328	SKA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SKA1	HGNC	protein_coding	OTTHUMT00000255982.2	G	NM_145060		47917639	+1	no_errors	ENST00000285116	ensembl	human	known	70_37	missense	SNP	1.000	C
SLC12A7	10723	genome.wustl.edu	37	5	1087130	1087130	+	Missense_Mutation	SNP	A	A	G			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr5:1087130A>G	ENST00000264930.5	-	6	606	c.563T>C	c.(562-564)aTg>aCg	p.M188T		NM_006598.2	NP_006589.2	Q9Y666	S12A7_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 7	188					cell volume homeostasis (GO:0006884)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transport (GO:0006811)|potassium ion transport (GO:0006813)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	potassium:chloride symporter activity (GO:0015379)|protein kinase binding (GO:0019901)			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(4)|urinary_tract(2)	32	Lung NSC(6;2.47e-13)|all_lung(6;1.67e-12)|all_epithelial(6;5.44e-09)		Epithelial(17;0.000497)|OV - Ovarian serous cystadenocarcinoma(19;0.00239)|all cancers(22;0.00241)|Lung(60;0.165)		Potassium Chloride(DB00761)	GCGCGATATCATGTAGTAGGA	0.642																																																	0													25.0	26.0	26.0					5																	1087130		2201	4298	6499	SO:0001583	missense	10723			AF105365	CCDS34129.1	5p15	2013-07-18	2013-07-18		ENSG00000113504	ENSG00000113504		"""Solute carriers"""	10915	protein-coding gene	gene with protein product		604879				10347194	Standard	NM_006598		Approved	KCC4, DKFZP434F076	uc003jbu.3	Q9Y666	OTTHUMG00000161931	ENST00000264930.5:c.563T>C	5.37:g.1087130A>G	ENSP00000264930:p.Met188Thr	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NDS8|Q4G0F3|Q96I81|Q9H7I3|Q9H7I7|Q9UFW2	Missense_Mutation	SNP	pfam_AA-permease_dom,prints_KCL_cotranspt,tigrfam_Na/K/Cl_cotransptS	p.M188T	ENST00000264930.5	37	c.563	CCDS34129.1	5	.	.	.	.	.	.	.	.	.	.	A	15.77	2.931972	0.52866	.	.	ENSG00000113504	ENST00000264930;ENST00000343658	D	0.98835	-5.17	3.93	3.93	0.45458	Amino acid permease domain (1);	0.043572	0.85682	D	0.000000	D	0.99177	0.9715	M	0.92923	3.36	0.80722	D	1	D	0.69078	0.997	D	0.70227	0.968	D	0.99271	1.0893	10	0.87932	D	0	.	11.8847	0.52596	1.0:0.0:0.0:0.0	.	188	Q9Y666	S12A7_HUMAN	T	188	ENSP00000264930:M188T	ENSP00000264930:M188T	M	-	2	0	SLC12A7	1140130	1.000000	0.71417	1.000000	0.80357	0.300000	0.27592	8.241000	0.89816	1.562000	0.49601	0.459000	0.35465	ATG	SLC12A7	-	pfam_AA-permease_dom,tigrfam_Na/K/Cl_cotransptS		0.642	SLC12A7-001	KNOWN	non_canonical_TEC|basic|appris_principal|CCDS	protein_coding	SLC12A7	HGNC	protein_coding	OTTHUMT00000366446.2	A	NM_006598		1087130	-1	no_errors	ENST00000264930	ensembl	human	known	70_37	missense	SNP	1.000	G
SLC12A2	6558	genome.wustl.edu	37	5	127449946	127449946	+	Nonsense_Mutation	SNP	A	A	T			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr5:127449946A>T	ENST00000262461.2	+	3	1108	c.919A>T	c.(919-921)Aga>Tga	p.R307*	SLC12A2_ENST00000343225.4_Nonsense_Mutation_p.R307*	NM_001046.2	NP_001037.1	P55011	S12A2_HUMAN	solute carrier family 12 (sodium/potassium/chloride transporter), member 2	307					ammonium transmembrane transport (GO:0072488)|ammonium transport (GO:0015696)|branching involved in mammary gland duct morphogenesis (GO:0060444)|chloride transmembrane transport (GO:1902476)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|gamma-aminobutyric acid signaling pathway (GO:0007214)|hyperosmotic response (GO:0006972)|ion transport (GO:0006811)|mammary duct terminal end bud growth (GO:0060763)|multicellular organism growth (GO:0035264)|positive regulation of cell volume (GO:0045795)|potassium ion transport (GO:0006813)|sodium ion transport (GO:0006814)|transepithelial ammonium transport (GO:0070634)|transepithelial chloride transport (GO:0030321)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	ammonium transmembrane transporter activity (GO:0008519)|sodium:potassium:chloride symporter activity (GO:0008511)			breast(3)|endometrium(5)|kidney(5)|large_intestine(12)|lung(16)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	48		all_cancers(142;0.0972)|Prostate(80;0.151)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	Epithelial(69;0.0433)|OV - Ovarian serous cystadenocarcinoma(64;0.0978)	Bumetanide(DB00887)|Potassium Chloride(DB00761)|Quinethazone(DB01325)	GCTTTTCATTAGATTGTCATG	0.368																																																	0													339.0	319.0	326.0					5																	127449946		2203	4300	6503	SO:0001587	stop_gained	6558				CCDS4144.1, CCDS58965.1	5q23.3	2014-06-13	2013-07-18		ENSG00000064651	ENSG00000064651		"""Solute carriers"""	10911	protein-coding gene	gene with protein product	"""bumetanide-sensitive sodium-(potassium)-chloride cotransporter 1"", ""basolateral Na-K-Cl symporter"", ""protein phosphatase 1, regulatory subunit 141"""	600840				7629105	Standard	NM_001256461		Approved	NKCC1, BSC, BSC2, PPP1R141	uc003kus.3	P55011	OTTHUMG00000128983	ENST00000262461.2:c.919A>T	5.37:g.127449946A>T	ENSP00000262461:p.Arg307*	Somatic		WXS	Illumina HiSeq	Phase_IV	Q8N713|Q8WWH7	Nonsense_Mutation	SNP	pfam_AA-permease_dom,pfam_AA_permease_N,prints_Na/K/Cl_cotranspt1,prints_Na/K/Cl_cotranspt,tigrfam_Na/K/Cl_cotransptS	p.R307*	ENST00000262461.2	37	c.919	CCDS4144.1	5	.	.	.	.	.	.	.	.	.	.	A	37	6.599822	0.97697	.	.	ENSG00000064651	ENST00000262461;ENST00000343225	.	.	.	5.54	1.53	0.23141	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.7025	0.62618	0.5188:0.4811:0.0:0.0	.	.	.	.	X	307	.	ENSP00000262461:R307X	R	+	1	2	SLC12A2	127477845	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.314000	0.33597	0.492000	0.27815	0.528000	0.53228	AGA	SLC12A2	-	pfam_AA-permease_dom,tigrfam_Na/K/Cl_cotransptS		0.368	SLC12A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC12A2	HGNC	protein_coding	OTTHUMT00000250972.1	A	NM_001046		127449946	+1	no_errors	ENST00000262461	ensembl	human	known	70_37	nonsense	SNP	1.000	T
SLC15A2	6565	genome.wustl.edu	37	3	121647918	121647918	+	Silent	SNP	T	T	C	rs375529176		TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr3:121647918T>C	ENST00000489711.1	+	16	1819	c.1431T>C	c.(1429-1431)acT>acC	p.T477T	SLC15A2_ENST00000295605.2_Silent_p.T446T|SLC15A2_ENST00000465060.1_3'UTR	NM_021082.3	NP_066568.3	Q16348	S15A2_HUMAN	solute carrier family 15 (oligopeptide transporter), member 2	477					drug transport (GO:0015893)|ion transport (GO:0006811)|protein transport (GO:0015031)|proton transport (GO:0015992)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	antibiotic transporter activity (GO:0042895)|dipeptide transporter activity (GO:0042936)|high-affinity oligopeptide transporter activity (GO:0015334)|peptide:proton symporter activity (GO:0015333)			NS(1)|endometrium(1)|kidney(4)|large_intestine(5)|lung(17)|skin(6)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(114;0.0967)	Aminolevulinic acid(DB00855)|Amoxicillin(DB01060)|Ampicillin(DB00415)|Azidocillin(DB08795)|Benazepril(DB00542)|Benzylpenicillin(DB01053)|Cefaclor(DB00833)|Cefadroxil(DB01140)|Cefalotin(DB00456)|Cefdinir(DB00535)|Cefepime(DB01413)|Cefixime(DB00671)|Cefmetazole(DB00274)|Cefotaxime(DB00493)|Cefradine(DB01333)|Ceftazidime(DB00438)|Ceftibuten(DB01415)|Ceftriaxone(DB01212)|Cefuroxime(DB01112)|Cephalexin(DB00567)|Chlorpropamide(DB00672)|Cilazapril(DB01340)|Cloxacillin(DB01147)|Cyclacillin(DB01000)|Dicloxacillin(DB00485)|Fosinopril(DB00492)|Glyburide(DB01016)|Moexipril(DB00691)|Nateglinide(DB00731)|Oxacillin(DB00713)|Perindopril(DB00790)|Quinapril(DB00881)|Ramipril(DB00178)|Spirapril(DB01348)|Tolbutamide(DB01124)|Trandolapril(DB00519)|Tranexamic Acid(DB00302)|Valaciclovir(DB00577)|Valganciclovir(DB01610)	CTCTCTACACTGAGCATTCTG	0.403																																																	0								T	,	0,4406		0,0,2203	221.0	208.0	213.0		1338,1431	-1.8	1.0	3		213	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	SLC15A2	NM_001145998.1,NM_021082.3	,	0,1,6502	CC,CT,TT		0.0116,0.0,0.0077	,	446/699,477/730	121647918	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	6565			BC044572	CCDS3007.1, CCDS54631.1	3q21.1	2013-07-18	2013-07-18		ENSG00000163406	ENSG00000163406		"""Solute carriers"""	10921	protein-coding gene	gene with protein product		602339	"""solute carrier family 15 (H+/peptide transporter), member 2"""			7756356	Standard	NM_021082		Approved	PEPT2	uc003eep.2	Q16348	OTTHUMG00000159423	ENST00000489711.1:c.1431T>C	3.37:g.121647918T>C		Somatic		WXS	Illumina HiSeq	Phase_IV	A8K1A5|B4E2A7	Silent	SNP	pfam_POT_fam,superfamily_MFS_dom_general_subst_transpt,tigrfam_Oligopep_transport	p.T477	ENST00000489711.1	37	c.1431	CCDS3007.1	3																																																																																			SLC15A2	-	pfam_POT_fam,tigrfam_Oligopep_transport		0.403	SLC15A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC15A2	HGNC	protein_coding	OTTHUMT00000355239.1	T	NM_021082		121647918	+1	no_errors	ENST00000489711	ensembl	human	known	70_37	silent	SNP	0.329	C
SLC18A2	6571	genome.wustl.edu	37	10	119015165	119015165	+	Missense_Mutation	SNP	G	G	A			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr10:119015165G>A	ENST00000298472.5	+	9	1035	c.892G>A	c.(892-894)Gca>Aca	p.A298T	SLC18A2_ENST00000497497.1_3'UTR	NM_003054.4	NP_003045.2	Q05940	VMAT2_HUMAN	solute carrier family 18 (vesicular monoamine transporter), member 2	298					aging (GO:0007568)|cellular response to ammonium ion (GO:0071242)|cellular response to drug (GO:0035690)|death (GO:0016265)|dopamine transport (GO:0015872)|endocytic recycling (GO:0032456)|glucose homeostasis (GO:0042593)|insulin secretion (GO:0030073)|locomotory behavior (GO:0007626)|monoamine transport (GO:0015844)|negative regulation of neurotransmitter transport (GO:0051589)|neurotransmitter loading into synaptic vesicle (GO:0098700)|neurotransmitter secretion (GO:0007269)|post-embryonic development (GO:0009791)|response to amphetamine (GO:0001975)|response to cocaine (GO:0042220)|response to corticosterone (GO:0051412)|response to herbicide (GO:0009635)|response to starvation (GO:0042594)|response to zinc ion (GO:0010043)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	clathrin-sculpted monoamine transport vesicle membrane (GO:0070083)|dense core granule (GO:0031045)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)|synaptic vesicle membrane (GO:0030672)|terminal bouton (GO:0043195)	amine transmembrane transporter activity (GO:0005275)|drug binding (GO:0008144)|monoamine transmembrane transporter activity (GO:0008504)|serotonin transmembrane transporter activity (GO:0015222)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(16)	29		Colorectal(252;0.19)		all cancers(201;0.029)	Amphetamine(DB00182)|Benzphetamine(DB00865)|Deserpidine(DB01089)|Dextroamphetamine(DB01576)|Ephedra(DB01363)|Ephedrine(DB01364)|Isometheptene(DB06706)|Methamphetamine(DB01577)|Norepinephrine(DB00368)|Propylhexedrine(DB06714)|Reserpine(DB00206)|Tetrabenazine(DB04844)	CCTCATTGCTGCAGGTGGGGC	0.587																																																	0													44.0	42.0	43.0					10																	119015165		2203	4300	6503	SO:0001583	missense	6571			L14269	CCDS7599.1	10q25	2013-07-18	2013-07-18		ENSG00000165646	ENSG00000165646		"""Solute carriers"""	10935	protein-coding gene	gene with protein product		193001		VMAT2			Standard	NM_003054		Approved	SVMT, SVAT	uc001ldd.2	Q05940	OTTHUMG00000019121	ENST00000298472.5:c.892G>A	10.37:g.119015165G>A	ENSP00000298472:p.Ala298Thr	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RC96|D3DRC4|Q15876|Q4G147|Q5VW49|Q9H3P6	Missense_Mutation	SNP	pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	p.A298T	ENST00000298472.5	37	c.892	CCDS7599.1	10	.	.	.	.	.	.	.	.	.	.	G	23.5	4.428993	0.83667	.	.	ENSG00000165646	ENST00000298472	T	0.58210	0.35	5.06	4.15	0.48705	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	T	0.73674	0.3617	M	0.85859	2.78	0.80722	D	1	D	0.69078	0.997	D	0.69479	0.964	T	0.78206	-0.2294	10	0.52906	T	0.07	-8.254	15.0845	0.72142	0.0:0.0:0.8569:0.1431	.	298	Q05940	VMAT2_HUMAN	T	298	ENSP00000298472:A298T	ENSP00000298472:A298T	A	+	1	0	SLC18A2	119005155	1.000000	0.71417	0.907000	0.35723	0.917000	0.54804	9.675000	0.98638	1.232000	0.43678	0.557000	0.71058	GCA	SLC18A2	-	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom		0.587	SLC18A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC18A2	HGNC	protein_coding	OTTHUMT00000050563.1	G	NM_003054		119015165	+1	no_errors	ENST00000298472	ensembl	human	known	70_37	missense	SNP	0.999	A
SLC18B1	116843	genome.wustl.edu	37	6	133100476	133100476	+	Silent	SNP	G	G	A	rs371507856		TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr6:133100476G>A	ENST00000275227.4	-	7	822	c.726C>T	c.(724-726)ttC>ttT	p.F242F	SLC18B1_ENST00000367918.1_Intron|SLC18B1_ENST00000538764.1_Silent_p.F116F	NM_052831.2	NP_439896.1	Q6NT16	S18B1_HUMAN	solute carrier family 18, subfamily B, member 1	242					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)											AGTTGATGACGAAGGCTATAA	0.413																																																	0								G		0,4406		0,0,2203	159.0	144.0	149.0		726	-6.0	0.0	6		149	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	C6orf192	NM_052831.2		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		242/457	133100476	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	116843			AK124442	CCDS5163.1	6q22.3-q23.3	2013-05-22	2012-03-09	2012-03-09	ENSG00000146409	ENSG00000146409		"""Solute carriers"""	21573	protein-coding gene	gene with protein product		613361	"""chromosome 6 open reading frame 192"""	C6orf192		19697161	Standard	XM_006715328		Approved	dJ55C23.6	uc003qdw.1	Q6NT16	OTTHUMG00000015595	ENST00000275227.4:c.726C>T	6.37:g.133100476G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	A8K1K3|B3KW77|Q6ISF2	Silent	SNP	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	p.F242	ENST00000275227.4	37	c.726	CCDS5163.1	6																																																																																			SLC18B1	-	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom		0.413	SLC18B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC18B1	HGNC	protein_coding	OTTHUMT00000042273.1	G	NM_052831		133100476	-1	no_errors	ENST00000275227	ensembl	human	known	70_37	silent	SNP	0.469	A
SLC24A3	57419	genome.wustl.edu	37	20	19701772	19701772	+	Silent	SNP	C	C	T			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr20:19701772C>T	ENST00000328041.6	+	17	2120	c.1923C>T	c.(1921-1923)tgC>tgT	p.C641C		NM_020689.3	NP_065740.2	Q9HC58	NCKX3_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 3	641					ion transport (GO:0006811)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium, potassium:sodium antiporter activity (GO:0008273)|symporter activity (GO:0015293)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(10)|liver(1)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						TGCCCATGTGCGGGGACCACT	0.612																																																	0													187.0	157.0	167.0					20																	19701772		2203	4300	6503	SO:0001819	synonymous_variant	57419			AF169257	CCDS13140.1	20p13	2013-05-22			ENSG00000185052	ENSG00000185052		"""Solute carriers"""	10977	protein-coding gene	gene with protein product		609839					Standard	NM_020689		Approved		uc002wrl.3	Q9HC58	OTTHUMG00000031993	ENST00000328041.6:c.1923C>T	20.37:g.19701772C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B1AKV7|Q9BQJ9|Q9BQL7|Q9BQY3|Q9H519	Silent	SNP	pfam_NaCa_Exmemb,tigrfam_K/Na/Ca-exchanger	p.C641	ENST00000328041.6	37	c.1923	CCDS13140.1	20																																																																																			SLC24A3	-	NULL		0.612	SLC24A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC24A3	HGNC	protein_coding	OTTHUMT00000078207.4	C	NM_020689		19701772	+1	no_errors	ENST00000328041	ensembl	human	known	70_37	silent	SNP	1.000	T
SLC8B1	80024	genome.wustl.edu	37	12	113753242	113753242	+	Missense_Mutation	SNP	C	C	T			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr12:113753242C>T	ENST00000552014.1	-	12	1548	c.1033G>A	c.(1033-1035)Gtg>Atg	p.V345M	SLC8B1_ENST00000546737.1_Missense_Mutation_p.V289M|SLC8B1_ENST00000202831.3_Missense_Mutation_p.V345M|SLC8B1_ENST00000553238.1_5'UTR			Q6J4K2	NCKX6_HUMAN	solute carrier family 8 (sodium/lithium/calcium exchanger), member B1	345					cytosolic calcium ion homeostasis (GO:0051480)|glucose homeostasis (GO:0042593)|ion transport (GO:0006811)|mitochondrial calcium ion homeostasis (GO:0051560)|mitochondrial calcium ion transport (GO:0006851)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of insulin secretion (GO:0050796)|response to stimulus (GO:0050896)|transmembrane transport (GO:0055085)	integral component of mitochondrial membrane (GO:0032592)|mitochondrial crista (GO:0030061)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)	calcium:sodium antiporter activity (GO:0005432)|calcium:sodium antiporter activity involved in regulation of cardiac muscle cell membrane potential (GO:0086038)|protein homodimerization activity (GO:0042803)										TCCGGGTCCACGACGGGGACT	0.617																																																	0													65.0	59.0	61.0					12																	113753242		2203	4299	6502	SO:0001583	missense	80024			AK025886	CCDS31909.1	12q24.13	2013-07-19	2013-07-19	2013-07-19	ENSG00000089060	ENSG00000089060		"""Solute carriers"""	26175	protein-coding gene	gene with protein product		609841	"""solute carrier family 24 (sodium/potassium/calcium exchanger), member 6"", ""solute carrier family 24 (sodium/lithium/calcium exchanger), member 6"""	SLC24A6		14625281, 23506867	Standard	NM_024959		Approved	FLJ22233, NCKX6, NCLX	uc001tvc.3	Q6J4K2	OTTHUMG00000169566	ENST00000552014.1:c.1033G>A	12.37:g.113753242C>T	ENSP00000447091:p.Val345Met	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NP50|Q4KMS9|Q6J4K1|Q9H6I8	Missense_Mutation	SNP	pfam_NaCa_Exmemb	p.V345M	ENST00000552014.1	37	c.1033	CCDS31909.1	12	.	.	.	.	.	.	.	.	.	.	C	15.00	2.702135	0.48307	.	.	ENSG00000089060	ENST00000552014;ENST00000202831;ENST00000377458;ENST00000546737	T;T;T	0.63096	0.01;0.01;-0.02	4.78	2.96	0.34315	.	0.151319	0.43579	N	0.000552	T	0.53094	0.1775	L	0.48877	1.53	0.58432	D	0.999998	P;P	0.47762	0.9;0.78	B;B	0.41135	0.348;0.21	T	0.51411	-0.8709	10	0.48119	T	0.1	.	10.7999	0.46483	0.0:0.8473:0.0:0.1527	.	345;50	Q6J4K2;B3KSP6	NCKX6_HUMAN;.	M	345;345;289;289	ENSP00000447091:V345M;ENSP00000202831:V345M;ENSP00000450081:V289M	ENSP00000202831:V345M	V	-	1	0	SLC24A6	112237625	0.992000	0.36948	0.577000	0.28562	0.818000	0.46254	2.954000	0.49113	0.471000	0.27319	0.456000	0.33151	GTG	SLC24A6	-	NULL		0.617	SLC8B1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	SLC24A6	HGNC	protein_coding	OTTHUMT00000404830.3	C	NM_024959		113753242	-1	no_errors	ENST00000202831	ensembl	human	known	70_37	missense	SNP	0.983	T
SLC25A11	8402	genome.wustl.edu	37	17	4842251	4842251	+	Missense_Mutation	SNP	G	G	A			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr17:4842251G>A	ENST00000225665.7	-	3	608	c.268C>T	c.(268-270)Cgt>Tgt	p.R90C	SLC25A11_ENST00000544061.2_Missense_Mutation_p.R39C|RNF167_ENST00000575111.1_5'Flank|RNF167_ENST00000572430.1_5'Flank|RNF167_ENST00000576229.1_5'Flank|RNF167_ENST00000262482.6_5'Flank|RNF167_ENST00000571816.1_5'Flank	NM_001165417.1|NM_003562.4	NP_001158889.1|NP_003553.2	Q02978	M2OM_HUMAN	solute carrier family 25 (mitochondrial carrier; oxoglutarate carrier), member 11	90					alpha-ketoglutarate transport (GO:0015742)|carbohydrate metabolic process (GO:0005975)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	integral component of plasma membrane (GO:0005887)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	oxoglutarate:malate antiporter activity (GO:0015367)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(5)	10						GTGGCCTGACGCAGCAGGCCA	0.612																																					Esophageal Squamous(144;1178 2388 18010 48797)												0													53.0	54.0	54.0					17																	4842251		2203	4300	6503	SO:0001583	missense	8402			X66114	CCDS11059.1, CCDS54069.1	17p13.3	2013-05-22			ENSG00000108528	ENSG00000108528		"""Solute carriers"""	10981	protein-coding gene	gene with protein product		604165		SLC20A4		10072597, 1457818	Standard	NM_003562		Approved	OGC	uc002fzo.2	Q02978	OTTHUMG00000099395	ENST00000225665.7:c.268C>T	17.37:g.4842251G>A	ENSP00000225665:p.Arg90Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	F5GY65|O75537|Q969P7	Missense_Mutation	SNP	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier	p.R90C	ENST00000225665.7	37	c.268	CCDS11059.1	17	.	.	.	.	.	.	.	.	.	.	G	23.5	4.424912	0.83667	.	.	ENSG00000108528	ENST00000225665;ENST00000544061	D;T	0.81739	-1.53;-1.35	5.97	5.97	0.96955	Mitochondrial carrier domain (2);	0.000000	0.85682	D	0.000000	D	0.93307	0.7867	H	0.96430	3.82	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.94725	0.7904	10	0.87932	D	0	-1.1849	17.9218	0.88969	0.0:0.0:1.0:0.0	.	90;90	Q6IBH0;Q02978	.;M2OM_HUMAN	C	90;39	ENSP00000225665:R90C;ENSP00000440804:R39C	ENSP00000225665:R90C	R	-	1	0	SLC25A11	4782996	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.370000	0.66144	2.837000	0.97791	0.655000	0.94253	CGT	SLC25A11	-	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier		0.612	SLC25A11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC25A11	HGNC	protein_coding	OTTHUMT00000216852.4	G	NM_003562		4842251	-1	no_errors	ENST00000225665	ensembl	human	known	70_37	missense	SNP	1.000	A
SLC25A51	92014	genome.wustl.edu	37	9	37888412	37888412	+	Missense_Mutation	SNP	C	C	T	rs370897815		TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr9:37888412C>T	ENST00000377716.2	-	3	879	c.136G>A	c.(136-138)Gca>Aca	p.A46T	SLC25A51_ENST00000496760.1_Intron|SLC25A51_ENST00000242275.6_Missense_Mutation_p.A46T|RP11-613M10.9_ENST00000540557.1_Intron|SLC25A51_ENST00000380590.3_Missense_Mutation_p.A46T			Q9H1U9	S2551_HUMAN	solute carrier family 25, member 51	46					transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)											AATGTGATTGCGACATTGTTG	0.408																																																	0								C	THR/ALA	0,4406		0,0,2203	106.0	99.0	101.0		136	5.1	0.0	9		101	2,8598		0,2,4298	no	missense	MCART1	NM_033412.3	58	0,2,6501	TT,TC,CC		0.0233,0.0,0.0154	benign	46/298	37888412	2,13004	2203	4300	6503	SO:0001583	missense	92014			BC008500	CCDS6614.1	9p13.3-p12	2013-05-22	2012-03-29	2012-03-29	ENSG00000122696	ENSG00000122696		"""Solute carriers"""	23323	protein-coding gene	gene with protein product			"""mitochondrial carrier triple repeat 1"""	MCART1		12477932	Standard	NM_033412		Approved	MGC14836, CG7943	uc004aav.2	Q9H1U9	OTTHUMG00000019935	ENST00000377716.2:c.136G>A	9.37:g.37888412C>T	ENSP00000366945:p.Ala46Thr	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier	p.A46T	ENST00000377716.2	37	c.136	CCDS6614.1	9	.	.	.	.	.	.	.	.	.	.	.	3.446	-0.113101	0.06881	0.0	2.33E-4	ENSG00000122696	ENST00000380590;ENST00000377716;ENST00000242275	T;T;T	0.77750	-1.12;-1.12;-1.12	5.08	5.08	0.68730	Mitochondrial carrier domain (2);	0.420063	0.24178	N	0.040826	T	0.65069	0.2656	N	0.17764	0.52	0.20196	N	0.999922	B	0.12630	0.006	B	0.08055	0.003	T	0.50775	-0.8788	10	0.25751	T	0.34	.	15.9661	0.79970	0.0:1.0:0.0:0.0	.	46	Q9H1U9	MCAR1_HUMAN	T	46	ENSP00000369964:A46T;ENSP00000366945:A46T;ENSP00000242275:A46T	ENSP00000242275:A46T	A	-	1	0	MCART1	37878412	0.069000	0.21087	0.022000	0.16811	0.180000	0.23129	0.648000	0.24828	2.367000	0.80283	0.585000	0.79938	GCA	SLC25A51	-	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier		0.408	SLC25A51-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SLC25A51	HGNC	protein_coding	OTTHUMT00000313746.1	C	NM_033412		37888412	-1	no_errors	ENST00000242275	ensembl	human	known	70_37	missense	SNP	0.182	T
SLC34A2	10568	genome.wustl.edu	37	4	25677956	25677956	+	Missense_Mutation	SNP	G	G	A			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr4:25677956G>A	ENST00000382051.3	+	13	1708	c.1658G>A	c.(1657-1659)cGg>cAg	p.R553Q	SLC34A2_ENST00000504570.1_Missense_Mutation_p.R552Q|SLC34A2_ENST00000503434.1_Missense_Mutation_p.R552Q	NM_001177998.1|NM_006424.2	NP_001171469.1|NP_006415	O95436	NPT2B_HUMAN	solute carrier family 34 (type II sodium/phosphate contransporter), member 2	553					aging (GO:0007568)|cellular phosphate ion homeostasis (GO:0030643)|in utero embryonic development (GO:0001701)|ion transport (GO:0006811)|phosphate ion transmembrane transport (GO:0035435)|phosphate ion transport (GO:0006817)|response to estradiol (GO:0032355)|response to estrogen (GO:0043627)|response to fructose (GO:0009750)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|microvillus membrane (GO:0031528)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	phosphate ion binding (GO:0042301)|sodium ion binding (GO:0031402)|sodium-dependent phosphate transmembrane transporter activity (GO:0015321)|sodium:phosphate symporter activity (GO:0005436)		SLC34A2/ROS1(14)	breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(4)	41		Breast(46;0.0503)				GCCGGCTGGCGGGTGCTGGTT	0.592			T	ROS1	NSCLC																																			Dom	yes		4	4p15.2	10568	"""solute carrier family 34 (sodium phosphate), member 2"""		E	0													117.0	113.0	114.0					4																	25677956		2203	4300	6503	SO:0001583	missense	10568			AF111856	CCDS3435.1, CCDS54750.1	4p15.2	2013-07-17	2013-07-17		ENSG00000157765	ENSG00000157765		"""Solute carriers"""	11020	protein-coding gene	gene with protein product		604217	"""solute carrier family 34 (sodium phosphate), member 2"""			10329428, 10610722	Standard	NM_006424		Approved	NAPI-3B	uc003grr.3	O95436	OTTHUMG00000097757	ENST00000382051.3:c.1658G>A	4.37:g.25677956G>A	ENSP00000371483:p.Arg553Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	A5PL17|Q8N2K2|Q8WYA9|Q9P0V7	Missense_Mutation	SNP	pfam_Na/Pi_transpt,superfamily_ABC_transptrTM_dom_typ1,tigrfam_Na/Pi_transpt	p.R553Q	ENST00000382051.3	37	c.1658	CCDS3435.1	4	.	.	.	.	.	.	.	.	.	.	G	10.28	1.307474	0.23821	.	.	ENSG00000157765	ENST00000504570;ENST00000382051;ENST00000503434	T;T;T	0.20738	2.05;2.05;2.05	5.18	2.32	0.28847	.	0.480143	0.24359	N	0.039213	T	0.08088	0.0202	N	0.02802	-0.49	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.01281	0.0;0.0	T	0.36383	-0.9750	10	0.18276	T	0.48	-9.584	10.6039	0.45384	0.5138:0.3697:0.1166:0.0	.	552;553	O95436-2;O95436	.;NPT2B_HUMAN	Q	552;553;552	ENSP00000425501:R552Q;ENSP00000371483:R553Q;ENSP00000423021:R552Q	ENSP00000371483:R553Q	R	+	2	0	SLC34A2	25287054	0.004000	0.15560	0.429000	0.26710	0.954000	0.61252	0.134000	0.15932	0.199000	0.20427	-0.234000	0.12200	CGG	SLC34A2	-	tigrfam_Na/Pi_transpt		0.592	SLC34A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC34A2	HGNC	protein_coding	OTTHUMT00000214990.1	G	NM_006424		25677956	+1	no_errors	ENST00000382051	ensembl	human	known	70_37	missense	SNP	0.294	A
SLC35A2	7355	genome.wustl.edu	37	X	48760736	48760736	+	Silent	SNP	G	G	A			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chrX:48760736G>A	ENST00000247138.5	-	5	1173	c.1170C>T	c.(1168-1170)ctC>ctT	p.L390L	SLC35A2_ENST00000376529.3_Missense_Mutation_p.H194Y	NM_005660.1	NP_005651.1	P78381	S35A2_HUMAN	solute carrier family 35 (UDP-galactose transporter), member A2	390					galactose metabolic process (GO:0006012)|transmembrane transport (GO:0055085)|UDP-galactose transport (GO:0015785)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	sugar:proton symporter activity (GO:0005351)|UDP-galactose transmembrane transporter activity (GO:0005459)			breast(1)|endometrium(4)|kidney(2)|large_intestine(1)|lung(5)|upper_aerodigestive_tract(2)	15						TCACCTTGGTGAGCAACCTGT	0.582																																																	0													101.0	70.0	81.0					X																	48760736		2203	4300	6503	SO:0001819	synonymous_variant	7355			D88146	CCDS14311.1, CCDS35247.1, CCDS43937.1, CCDS65253.1, CCDS65254.1, CCDS75973.1, CCDS75974.1, CCDS75975.1	Xp11.23-p11.22	2013-05-22			ENSG00000102100	ENSG00000102100		"""Solute carriers"""	11022	protein-coding gene	gene with protein product		314375	"""solute carrier family 35 (UDP-galactose transporter), member 2"""	UGALT		8128316	Standard	NM_001042498		Approved	UGAT, UGT, UGT1, UGT2, UGTL	uc004dlo.1	P78381	OTTHUMG00000024129	ENST00000247138.5:c.1170C>T	X.37:g.48760736G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	A8K2L9|A8K9V1|B4DE11|B4DPT2|E7EW45|Q8IV21|Q92553	Missense_Mutation	SNP	pfam_Nuc_sug_transpt	p.H194Y	ENST00000247138.5	37	c.580	CCDS14311.1	X	.	.	.	.	.	.	.	.	.	.	G	10.27	1.305017	0.23736	.	.	ENSG00000102100	ENST00000376529	.	.	.	5.55	4.65	0.58169	.	.	.	.	.	T	0.70850	0.3271	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.73338	-0.4014	5	0.59425	D	0.04	.	11.9208	0.52791	0.0:0.19:0.81:0.0	.	.	.	.	Y	194	.	ENSP00000365712:H194Y	H	-	1	0	SLC35A2	48645680	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.761000	0.47589	2.311000	0.77944	0.600000	0.82982	CAC	SLC35A2	-	NULL		0.582	SLC35A2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SLC35A2	HGNC	protein_coding	OTTHUMT00000060790.1	G	NM_005660		48760736	-1	no_errors	ENST00000376529	ensembl	human	known	70_37	missense	SNP	1.000	A
SLC35E1	79939	genome.wustl.edu	37	19	16683100	16683100	+	Missense_Mutation	SNP	C	C	T			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr19:16683100C>T	ENST00000595753.1	-	1	93	c.76G>A	c.(76-78)Gag>Aag	p.E26K	SLC35E1_ENST00000431408.1_5'Flank|CTD-3222D19.2_ENST00000409035.1_Intron	NM_024881.4	NP_079157.3	Q96K37	S35E1_HUMAN	solute carrier family 35, member E1	26					transport (GO:0006810)	integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(3)|large_intestine(7)|liver(1)|lung(2)|ovary(1)	15						CGCGCGCCCTCGCGCGCCCCA	0.781																																																	0													8.0	11.0	10.0					19																	16683100		656	1558	2214	SO:0001583	missense	79939			AK024313	CCDS12346.2	19p13.11	2013-05-22			ENSG00000127526	ENSG00000127526		"""Solute carriers"""	20803	protein-coding gene	gene with protein product							Standard	NM_024881		Approved	FLJ14251	uc010xph.2	Q96K37	OTTHUMG00000152575	ENST00000595753.1:c.76G>A	19.37:g.16683100C>T	ENSP00000470652:p.Glu26Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q8NBQ2|Q96JV7	Missense_Mutation	SNP	pfam_DUF250,pfam_DMT,pfam_UAA	p.E26K	ENST00000595753.1	37	c.76	CCDS12346.2	19	.	.	.	.	.	.	.	.	.	.	c	12.84	2.059782	0.36373	.	.	ENSG00000127526	ENST00000409648;ENST00000436553	.	.	.	3.67	1.49	0.22878	.	.	.	.	.	T	0.34803	0.0910	L	0.27053	0.805	0.80722	D	1	B	0.17465	0.022	B	0.12156	0.007	T	0.23013	-1.0200	8	0.02654	T	1	.	7.9008	0.29734	0.0:0.7869:0.0:0.2131	.	26	Q96K37	S35E1_HUMAN	K	26;6	.	ENSP00000387152:E26K	E	-	1	0	SLC35E1	16544100	1.000000	0.71417	0.708000	0.30435	0.119000	0.20118	5.581000	0.67471	0.093000	0.17368	0.306000	0.20318	GAG	SLC35E1	-	NULL		0.781	SLC35E1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC35E1	HGNC	protein_coding	OTTHUMT00000326809.2	C	NM_024881		16683100	-1	no_errors	ENST00000595753	ensembl	human	known	70_37	missense	SNP	1.000	T
SLC40A1	30061	genome.wustl.edu	37	2	190430189	190430189	+	Silent	SNP	G	G	A			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr2:190430189G>A	ENST00000261024.2	-	6	1077	c.651C>T	c.(649-651)tgC>tgT	p.C217C		NM_014585.5	NP_055400.1	Q9NP59	S40A1_HUMAN	solute carrier family 40 (iron-regulated transporter), member 1	217					anatomical structure morphogenesis (GO:0009653)|cellular iron ion homeostasis (GO:0006879)|endothelium development (GO:0003158)|iron ion transmembrane transport (GO:0034755)|lymphocyte homeostasis (GO:0002260)|multicellular organismal iron ion homeostasis (GO:0060586)|negative regulation of apoptotic process (GO:0043066)|regulation of transcription from RNA polymerase II promoter in response to iron (GO:0034395)|spleen trabecula formation (GO:0060345)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|multivesicular body (GO:0005771)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)	iron ion transmembrane transporter activity (GO:0005381)			endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(117;0.000917)|Epithelial(96;0.014)|all cancers(119;0.0491)			CGTACTCCACGCACATGGATA	0.478																																																	0													91.0	88.0	89.0					2																	190430189		2203	4300	6503	SO:0001819	synonymous_variant	30061			AF215636	CCDS2299.1	2q32	2014-09-17	2003-06-04	2003-06-05	ENSG00000138449	ENSG00000138449		"""Solute carriers"""	10909	protein-coding gene	gene with protein product	"""ferroportin 1"""	604653	"""solute carrier family 11 (proton-coupled divalent metal ion transporters), member 3"""	SLC11A3		10828623	Standard	NM_014585		Approved	MTP1, IREG1, FPN1, HFE4	uc002uqp.4	Q9NP59	OTTHUMG00000132662	ENST00000261024.2:c.651C>T	2.37:g.190430189G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q6FI62|Q7Z4F8|Q8IVB2|Q9NRL0	Silent	SNP	pfam_Ferroportin-1,superfamily_MFS_dom_general_subst_transpt	p.C217	ENST00000261024.2	37	c.651	CCDS2299.1	2																																																																																			SLC40A1	-	pfam_Ferroportin-1,superfamily_MFS_dom_general_subst_transpt		0.478	SLC40A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC40A1	HGNC	protein_coding	OTTHUMT00000255916.2	G			190430189	-1	no_errors	ENST00000261024	ensembl	human	known	70_37	silent	SNP	0.998	A
SLC44A5	204962	genome.wustl.edu	37	1	75702683	75702683	+	Nonsense_Mutation	SNP	A	A	T			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr1:75702683A>T	ENST00000370855.5	-	11	842	c.729T>A	c.(727-729)taT>taA	p.Y243*	SLC44A5_ENST00000535611.1_Nonsense_Mutation_p.Y113*|SLC44A5_ENST00000370859.3_Nonsense_Mutation_p.Y243*	NM_152697.4	NP_689910.2	Q8NCS7	CTL5_HUMAN	solute carrier family 44, member 5	243					glycerophospholipid biosynthetic process (GO:0046474)|phosphatidylcholine biosynthetic process (GO:0006656)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				kidney(1)|large_intestine(13)|lung(35)|ovary(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61						TGAGAATCCAATACCAAGTTC	0.318																																																	0													64.0	58.0	60.0					1																	75702683		2203	4300	6503	SO:0001587	stop_gained	204962			BC034580	CCDS667.1, CCDS44164.1	1p31.1	2013-05-22			ENSG00000137968	ENSG00000137968		"""Solute carriers"""	28524	protein-coding gene	gene with protein product						15715662	Standard	NM_152697		Approved	MGC34032, CTL5	uc001dgu.3	Q8NCS7	OTTHUMG00000009721	ENST00000370855.5:c.729T>A	1.37:g.75702683A>T	ENSP00000359892:p.Tyr243*	Somatic		WXS	Illumina HiSeq	Phase_IV	B5MCU3|Q4G0K0|Q8NA44|Q8NB86	Nonsense_Mutation	SNP	pfam_Choline_transptr-like	p.Y243*	ENST00000370855.5	37	c.729	CCDS667.1	1	.	.	.	.	.	.	.	.	.	.	A	38	6.649996	0.97734	.	.	ENSG00000137968	ENST00000370859;ENST00000536707;ENST00000370855;ENST00000535611;ENST00000535790	.	.	.	5.51	0.455	0.16649	.	0.805113	0.11909	N	0.517877	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-0.7613	5.5977	0.17337	0.5517:0.1421:0.3062:0.0	.	.	.	.	X	243;282;243;113;236	.	ENSP00000359892:Y243X	Y	-	3	2	SLC44A5	75475271	0.998000	0.40836	0.994000	0.49952	0.909000	0.53808	0.763000	0.26517	0.065000	0.16485	0.482000	0.46254	TAT	SLC44A5	-	NULL		0.318	SLC44A5-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SLC44A5	HGNC	protein_coding	OTTHUMT00000026921.1	A	NM_152697		75702683	-1	no_errors	ENST00000370855	ensembl	human	known	70_37	nonsense	SNP	0.994	T
SLC46A3	283537	genome.wustl.edu	37	13	29275325	29275325	+	3'UTR	SNP	C	C	G			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr13:29275325C>G	ENST00000266943.6	-	0	2064				RNU6-53P_ENST00000365367.1_RNA|SLC46A3_ENST00000380814.4_Intron|SLC46A3_ENST00000475385.1_5'UTR	NM_001135919.1|NM_181785.3	NP_001129391.1|NP_861450.1	Q7Z3Q1	S46A3_HUMAN	solute carrier family 46, member 3						transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(2)|prostate(1)|skin(1)	15		Lung SC(185;0.0367)		all cancers(112;0.159)		TTGACCTTATCAAGTTTCTTG	0.358																																																	0																																										SO:0001624	3_prime_UTR_variant	283537				CCDS9332.1, CCDS45021.1	13q12.3	2013-05-22	2007-03-29		ENSG00000139508	ENSG00000139508		"""Solute carriers"""	27501	protein-coding gene	gene with protein product							Standard	NM_001135919		Approved	DKFZp686A1775, FLJ42613	uc001usj.3	Q7Z3Q1	OTTHUMG00000016650	ENST00000266943.6:c.*309G>C	13.37:g.29275325C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	Q3ZCV8|Q6NUK5|Q6P9B3|Q6ZVG5|Q96QA1	RNA	SNP	-	NULL	ENST00000266943.6	37	NULL	CCDS9332.1	13																																																																																			SLC46A3	-	-		0.358	SLC46A3-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	SLC46A3	HGNC	protein_coding	OTTHUMT00000276111.1	C	NM_181785		29275325	-1	no_errors	ENST00000475385	ensembl	human	known	70_37	rna	SNP	0.000	G
SLC4A7	9497	genome.wustl.edu	37	3	27473106	27473106	+	Missense_Mutation	SNP	T	T	C			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr3:27473106T>C	ENST00000295736.5	-	7	876	c.806A>G	c.(805-807)aAc>aGc	p.N269S	SLC4A7_ENST00000446700.1_Missense_Mutation_p.N261S|SLC4A7_ENST00000428386.1_Intron|SLC4A7_ENST00000425128.2_Missense_Mutation_p.N261S|SLC4A7_ENST00000388777.4_5'UTR|SLC4A7_ENST00000440156.1_Missense_Mutation_p.N265S|SLC4A7_ENST00000445684.1_Missense_Mutation_p.N265S|SLC4A7_ENST00000454389.1_Missense_Mutation_p.N278S|SLC4A7_ENST00000455077.1_Intron|SLC4A7_ENST00000437179.1_Intron|SLC4A7_ENST00000435667.2_Intron	NM_003615.4	NP_003606.3	Q9Y6M7	S4A7_HUMAN	solute carrier family 4, sodium bicarbonate cotransporter, member 7	269					auditory receptor cell development (GO:0060117)|bicarbonate transport (GO:0015701)|cochlear nucleus development (GO:0021747)|ion transport (GO:0006811)|retina vasculature morphogenesis in camera-type eye (GO:0061299)|retinal cell programmed cell death (GO:0046666)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|cell projection (GO:0042995)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)|sodium:bicarbonate symporter activity (GO:0008510)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(12)|lung(9)|ovary(4)|skin(1)	38					Sodium bicarbonate(DB01390)	CAAGGAAAGGTTTGAGGCAGA	0.468																																																	0													88.0	98.0	94.0					3																	27473106		2203	4300	6503	SO:0001583	missense	9497			AB012130	CCDS33721.1, CCDS58819.1, CCDS58820.1	3p24.1	2013-05-22			ENSG00000033867	ENSG00000033867		"""Solute carriers"""	11033	protein-coding gene	gene with protein product		603353		SLC4A6		10198178, 9610397	Standard	NM_003615		Approved	NBC3, SBC2	uc003cdv.4	Q9Y6M7	OTTHUMG00000155679	ENST00000295736.5:c.806A>G	3.37:g.27473106T>C	ENSP00000295736:p.Asn269Ser	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NIA8|B2CI53|B5M449|B5M451|B5M452|B5M453|B6DY52|B6DY53|C9JST9|D3K174|D3K175|O60350|Q6AHZ9|Q9HC88|Q9UIB9	Missense_Mutation	SNP	pfam_HCO3_transpt_C,pfam_HCO3_transpt_cyt,superfamily_PTrfase/Anion_transptr,prints_HCO3_transpt_euk,tigrfam_HCO3_transpt_euk	p.N278S	ENST00000295736.5	37	c.833	CCDS33721.1	3	.	.	.	.	.	.	.	.	.	.	T	5.920	0.353761	0.11182	.	.	ENSG00000033867	ENST00000295736;ENST00000454389;ENST00000440156;ENST00000446700;ENST00000445684;ENST00000425128	T;T;T;T;T;T	0.77750	-0.13;-0.13;-1.12;-1.12;-1.12;0.39	5.98	2.38	0.29361	Bicarbonate transporter, cytoplasmic (1);	0.199365	0.40302	N	0.001126	T	0.45155	0.1328	N	0.01505	-0.83	0.24839	N	0.992477	B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0	B;B;B;B;B	0.08055	0.003;0.003;0.003;0.003;0.002	T	0.35201	-0.9798	10	0.08179	T	0.78	.	8.7919	0.34857	0.0:0.196:0.0:0.804	.	265;261;265;278;269	E9PFN4;E9PGC1;B5M453;E9PDL9;Q9Y6M7	.;.;.;.;S4A7_HUMAN	S	269;278;265;261;265;261	ENSP00000295736:N269S;ENSP00000390394:N278S;ENSP00000414797:N265S;ENSP00000406605:N261S;ENSP00000406804:N265S;ENSP00000401949:N261S	ENSP00000295736:N269S	N	-	2	0	SLC4A7	27448110	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	2.332000	0.43903	0.182000	0.20032	0.482000	0.46254	AAC	SLC4A7	-	pfam_HCO3_transpt_cyt		0.468	SLC4A7-001	KNOWN	basic|CCDS	protein_coding	SLC4A7	HGNC	protein_coding	OTTHUMT00000341230.2	T	NM_003615		27473106	-1	no_errors	ENST00000454389	ensembl	human	known	70_37	missense	SNP	1.000	C
SLC5A3	6526	genome.wustl.edu	37	21	35469242	35469242	+	Missense_Mutation	SNP	T	T	G			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr21:35469242T>G	ENST00000381151.3	+	2	2257	c.1745T>G	c.(1744-1746)aTc>aGc	p.I582S	AP000320.7_ENST00000362077.4_RNA|SLC5A3_ENST00000608209.1_Missense_Mutation_p.I582S|MRPS6_ENST00000399312.2_Intron			P53794	SC5A3_HUMAN	solute carrier family 5 (sodium/myo-inositol cotransporter), member 3	582					inositol metabolic process (GO:0006020)|peripheral nervous system development (GO:0007422)|regulation of respiratory gaseous exchange (GO:0043576)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	myo-inositol:sodium symporter activity (GO:0005367)			breast(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	20						AATGAGACCATCAACCACATC	0.463																																																	0													134.0	119.0	124.0					21																	35469242		2203	4300	6503	SO:0001583	missense	6526				CCDS33549.1	21q22.11	2013-05-22	2008-09-02		ENSG00000198743	ENSG00000198743		"""Solute carriers"""	11038	protein-coding gene	gene with protein product		600444	"""solute carrier family 5 (inositol transporter), member 3"""			7789985	Standard	NM_006933		Approved	SMIT, SMIT1	uc002yto.3	P53794	OTTHUMG00000065821	ENST00000381151.3:c.1745T>G	21.37:g.35469242T>G	ENSP00000370543:p.Ile582Ser	Somatic		WXS	Illumina HiSeq	Phase_IV	O43489	Missense_Mutation	SNP	pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr	p.I582S	ENST00000381151.3	37	c.1745	CCDS33549.1	21	.	.	.	.	.	.	.	.	.	.	T	10.19	1.282962	0.23392	.	.	ENSG00000198743	ENST00000381151	D	0.86865	-2.18	5.55	-1.1	0.09872	.	0.758082	0.12224	N	0.488084	T	0.66117	0.2757	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.53092	-0.8487	10	0.09084	T	0.74	.	4.3687	0.11237	0.0:0.2805:0.3367:0.3828	.	582	P53794	SC5A3_HUMAN	S	582	ENSP00000370543:I582S	ENSP00000370543:I582S	I	+	2	0	SLC5A3	34391112	0.000000	0.05858	0.087000	0.20705	0.916000	0.54674	0.192000	0.17096	-0.065000	0.13021	0.533000	0.62120	ATC	SLC5A3	-	NULL		0.463	SLC5A3-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	SLC5A3	HGNC	protein_coding	OTTHUMT00000141037.1	T			35469242	+1	no_errors	ENST00000381151	ensembl	human	known	70_37	missense	SNP	0.000	G
SLC6A6	6533	genome.wustl.edu	37	3	14487300	14487300	+	Missense_Mutation	SNP	G	G	A			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr3:14487300G>A	ENST00000454876.2	+	4	634	c.305G>A	c.(304-306)gGc>gAc	p.G102D	SLC6A6_ENST00000484191.1_3'UTR|SLC6A6_ENST00000360861.3_Missense_Mutation_p.G102D|SLC6A6_ENST00000416216.2_Missense_Mutation_p.G102D			P31641	SC6A6_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 6	102					amino acid transport (GO:0006865)|cellular amino acid metabolic process (GO:0006520)|ion transport (GO:0006811)|taurine transport (GO:0015734)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	neurotransmitter:sodium symporter activity (GO:0005328)|taurine binding (GO:0030977)|taurine:sodium symporter activity (GO:0005369)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(1)|prostate(1)|skin(2)	28						ATCATCATAGGCCAGTACACC	0.522																																																	0													149.0	135.0	140.0					3																	14487300		2203	4300	6503	SO:0001583	missense	6533				CCDS33705.1, CCDS46765.1	3p25.1	2013-07-19	2013-07-19		ENSG00000131389	ENSG00000131389		"""Solute carriers"""	11052	protein-coding gene	gene with protein product	"""taurine transporter"""	186854	"""solute carrier family 6 (neurotransmitter transporter, taurine), member 6"""			8010975, 8382624	Standard	XM_006713307		Approved	TAUT	uc010heg.4	P31641	OTTHUMG00000155525	ENST00000454876.2:c.305G>A	3.37:g.14487300G>A	ENSP00000398063:p.Gly102Asp	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RNU7|Q9BRI2|Q9BXB0	Missense_Mutation	SNP	pfam_Na/ntran_symport,pfscan_Na/ntran_symport,prints_Na/ntran_symport,prints_Na/ntran_symport_taurine	p.G102D	ENST00000454876.2	37	c.305	CCDS33705.1	3	.	.	.	.	.	.	.	.	.	.	G	27.9	4.870951	0.91587	.	.	ENSG00000131389	ENST00000454876;ENST00000360861;ENST00000416216;ENST00000452775	D;D;D;D	0.97924	-4.61;-4.61;-4.61;-4.61	4.62	4.62	0.57501	.	0.000000	0.85682	D	0.000000	D	0.99414	0.9793	H	0.99619	4.66	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.97922	1.0315	10	0.87932	D	0	.	17.4813	0.87673	0.0:0.0:1.0:0.0	.	102	P31641	SC6A6_HUMAN	D	102	ENSP00000398063:G102D;ENSP00000354107:G102D;ENSP00000401167:G102D;ENSP00000402059:G102D	ENSP00000354107:G102D	G	+	2	0	SLC6A6	14462304	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.668000	0.98619	2.123000	0.65237	0.484000	0.47621	GGC	SLC6A6	-	pfam_Na/ntran_symport,pfscan_Na/ntran_symport		0.522	SLC6A6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC6A6	HGNC	protein_coding	OTTHUMT00000340507.1	G	NM_003043		14487300	+1	no_errors	ENST00000360861	ensembl	human	known	70_37	missense	SNP	1.000	A
SLC9A2	6549	genome.wustl.edu	37	2	103274408	103274408	+	Silent	SNP	C	C	T			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr2:103274408C>T	ENST00000233969.2	+	2	817	c.675C>T	c.(673-675)gtC>gtT	p.V225V		NM_003048.3	NP_003039.2	Q9UBY0	SL9A2_HUMAN	solute carrier family 9, subfamily A (NHE2, cation proton antiporter 2), member 2	225					ion transport (GO:0006811)|protein localization (GO:0008104)|regulation of pH (GO:0006885)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium:proton antiporter activity (GO:0015385)			breast(5)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42						TGCTTGCTGTCTTTGAGAACA	0.502																																																	0													224.0	200.0	208.0					2																	103274408		2203	4300	6503	SO:0001819	synonymous_variant	6549				CCDS2062.1	2q11.2	2013-05-22	2012-03-22		ENSG00000115616	ENSG00000115616		"""Solute carriers"""	11072	protein-coding gene	gene with protein product		600530	"""solute carrier family 9 (sodium/hydrogen exchanger), isoform 2"", ""solute carrier family 9 (sodium/hydrogen exchanger), member 2"""	NHE2			Standard	NM_003048		Approved		uc002tca.3	Q9UBY0	OTTHUMG00000130778	ENST00000233969.2:c.675C>T	2.37:g.103274408C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B2RMS2	Silent	SNP	pfam_Cation/H_exchanger,prints_Na/H_exchanger_2,prints_NaH_exchanger,tigrfam_NaH_exchanger	p.V225	ENST00000233969.2	37	c.675	CCDS2062.1	2																																																																																			SLC9A2	-	pfam_Cation/H_exchanger,tigrfam_NaH_exchanger		0.502	SLC9A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC9A2	HGNC	protein_coding	OTTHUMT00000253292.2	C			103274408	+1	no_errors	ENST00000233969	ensembl	human	known	70_37	silent	SNP	1.000	T
SLC9A3R2	9351	genome.wustl.edu	37	16	2087934	2087934	+	Silent	SNP	C	C	T			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr16:2087934C>T	ENST00000424542.2	+	7	1101	c.963C>T	c.(961-963)cgC>cgT	p.R321R	NTHL1_ENST00000562951.1_5'Flank|SLC9A3R2_ENST00000566198.1_Silent_p.R210R|SLC9A3R2_ENST00000432365.2_Silent_p.R310R|SLC9A3R2_ENST00000563587.1_Silent_p.R215R	NM_001130012.2|NM_004785.5	NP_001123484.1|NP_004776.3	Q15599	NHRF2_HUMAN	solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3 regulator 2	321					negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|protein complex assembly (GO:0006461)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|phosphatase binding (GO:0019902)|protein C-terminus binding (GO:0008022)|receptor binding (GO:0005102)			central_nervous_system(1)|endometrium(1)	2						TCAACAAGCGCGCGCCACAGA	0.642																																					Ovarian(69;105 1552 17724 23473)												0													43.0	53.0	49.0					16																	2087934		2118	4214	6332	SO:0001819	synonymous_variant	9351			AF004900	CCDS45382.1, CCDS45383.1, CCDS58407.1	16p13.3	2014-09-04	2012-03-22		ENSG00000065054	ENSG00000065054			11076	protein-coding gene	gene with protein product		606553	"""solute carrier family 9 (sodium/hydrogen exchanger), isoform 3 regulatory factor 2"", ""solute carrier family 9 (sodium/hydrogen exchanger), isoform 3 regulator 2"", ""solute carrier family 9 (sodium/hydrogen exchanger), member 3 regulator 2"""			9054412, 9671706	Standard	NM_001130012		Approved	SIP-1, TKA-1, NHERF-2, E3KARP	uc002coi.3	Q15599	OTTHUMG00000176956	ENST00000424542.2:c.963C>T	16.37:g.2087934C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	D3DU84|D3DU85|H3BSV6|O00272|O00556|Q3KQY7	Silent	SNP	pfam_PDZ,pfam_EBP50_C-term,superfamily_PDZ,smart_PDZ,pirsf_NaH_exchngr_reg_CF_NHE-RF,pfscan_PDZ	p.R321	ENST00000424542.2	37	c.963	CCDS45382.1	16																																																																																			SLC9A3R2	-	pfam_EBP50_C-term,pirsf_NaH_exchngr_reg_CF_NHE-RF		0.642	SLC9A3R2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC9A3R2	HGNC	protein_coding	OTTHUMT00000434448.1	C			2087934	+1	no_errors	ENST00000424542	ensembl	human	known	70_37	silent	SNP	1.000	T
SLC9A7	84679	genome.wustl.edu	37	X	46513050	46513050	+	Missense_Mutation	SNP	A	A	C			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chrX:46513050A>C	ENST00000328306.4	-	8	1163	c.1138T>G	c.(1138-1140)Ttt>Gtt	p.F380V		NM_001257291.1|NM_032591.2	NP_001244220.1|NP_115980.1	Q96T83	SL9A7_HUMAN	solute carrier family 9, subfamily A (NHE7, cation proton antiporter 7), member 7	380					ion transport (GO:0006811)|potassium ion transmembrane transport (GO:0071805)|regulation of pH (GO:0006885)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|recycling endosome membrane (GO:0055038)|trans-Golgi network (GO:0005802)	potassium:proton antiporter activity (GO:0015386)|protein homodimerization activity (GO:0042803)|sodium:proton antiporter activity (GO:0015385)			breast(2)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(6)|lung(3)|ovary(2)|prostate(1)|skin(1)	21						CTACCTGTAAATCCGCAGGCT	0.512																																					Pancreas(118;454 1696 1930 13865 39976)												0													79.0	64.0	69.0					X																	46513050		2203	4300	6503	SO:0001583	missense	84679			AF298591	CCDS14269.1, CCDS75967.1	Xp11.3	2013-05-22	2012-03-22		ENSG00000065923	ENSG00000065923		"""Solute carriers"""	17123	protein-coding gene	gene with protein product		300368	"""solute carrier family 9 (sodium/hydrogen exchanger), isoform 7"", ""solute carrier family 9 (sodium/hydrogen exchanger), member 7"""			11279194	Standard	NM_001257291		Approved	NHE7	uc004dgv.2	Q96T83	OTTHUMG00000021428	ENST00000328306.4:c.1138T>G	X.37:g.46513050A>C	ENSP00000330320:p.Phe380Val	Somatic		WXS	Illumina HiSeq	Phase_IV	O75827|Q5JXP9	Missense_Mutation	SNP	pfam_Cation/H_exchanger,prints_Na/H_exchanger_6,prints_NaH_exchanger,tigrfam_NaH_exchanger	p.F380V	ENST00000328306.4	37	c.1138	CCDS14269.1	X	.	.	.	.	.	.	.	.	.	.	A	21.6	4.179414	0.78564	.	.	ENSG00000065923	ENST00000328306	T	0.11495	2.77	5.54	5.54	0.83059	Cation/H+ exchanger (1);	0.000000	0.85682	D	0.000000	T	0.17450	0.0419	L	0.50333	1.59	0.80722	D	1	P	0.47910	0.902	P	0.47251	0.542	T	0.00444	-1.1735	10	0.87932	D	0	.	14.6776	0.68993	1.0:0.0:0.0:0.0	.	380	Q96T83	SL9A7_HUMAN	V	380	ENSP00000330320:F380V	ENSP00000330320:F380V	F	-	1	0	SLC9A7	46397994	1.000000	0.71417	0.994000	0.49952	0.727000	0.41649	8.812000	0.91959	1.847000	0.53656	0.486000	0.48141	TTT	SLC9A7	-	pfam_Cation/H_exchanger,tigrfam_NaH_exchanger		0.512	SLC9A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC9A7	HGNC	protein_coding	OTTHUMT00000056370.1	A	NM_032591		46513050	-1	no_errors	ENST00000328306	ensembl	human	known	70_37	missense	SNP	1.000	C
SLC9A6	10479	genome.wustl.edu	37	X	135095119	135095119	+	Silent	SNP	C	C	T			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chrX:135095119C>T	ENST00000370698.3	+	8	992	c.957C>T	c.(955-957)ttC>ttT	p.F319F	SLC9A6_ENST00000370695.4_Silent_p.F351F|SLC9A6_ENST00000370701.1_Silent_p.F299F	NM_006359.2	NP_006350.1	Q92581	SL9A6_HUMAN	solute carrier family 9, subfamily A (NHE6, cation proton antiporter 6), member 6	319					axon extension (GO:0048675)|brain-derived neurotrophic factor receptor signaling pathway (GO:0031547)|dendrite extension (GO:0097484)|dendritic spine development (GO:0060996)|ion transport (GO:0006811)|neuron projection morphogenesis (GO:0048812)|regulation of neurotrophin TRK receptor signaling pathway (GO:0051386)|regulation of pH (GO:0006885)|sodium ion transmembrane transport (GO:0035725)|synapse organization (GO:0050808)|transmembrane transport (GO:0055085)|transport (GO:0006810)	axon terminus (GO:0043679)|axonal spine (GO:0044308)|cytoplasmic vesicle (GO:0031410)|dendrite (GO:0030425)|early endosome membrane (GO:0031901)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|plasma membrane (GO:0005886)|recycling endosome membrane (GO:0055038)|synapse (GO:0045202)	sodium:proton antiporter activity (GO:0015385)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(18)|ovary(2)|upper_aerodigestive_tract(1)	33	Acute lymphoblastic leukemia(192;0.000127)					TGACAAAGTTCACCAAATTAC	0.428																																																	0													234.0	202.0	213.0					X																	135095119		2203	4300	6503	SO:0001819	synonymous_variant	10479			AF030409	CCDS14654.1, CCDS44003.1, CCDS55504.1	Xq26.3	2013-05-22	2012-03-22		ENSG00000198689	ENSG00000198689		"""Solute carriers"""	11079	protein-coding gene	gene with protein product		300231	"""solute carrier family 9 (sodium/hydrogen exchanger), isoform 6"", ""solute carrier family 9 (sodium/hydrogen exchanger), member 6"""			9507001	Standard	NM_001042537		Approved	NHE6, KIAA0267	uc004ezk.3	Q92581	OTTHUMG00000022498	ENST00000370698.3:c.957C>T	X.37:g.135095119C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A6NIQ9|A8K160|B4DU30|B7ZAE0|Q3ZCW7|Q5JPP8|Q5JPP9|Q86VS0	Silent	SNP	pfam_Cation/H_exchanger,prints_Na/H_exchanger_6,prints_NaH_exchanger,tigrfam_NaH_exchanger	p.F351	ENST00000370698.3	37	c.1053	CCDS14654.1	X																																																																																			SLC9A6	-	pfam_Cation/H_exchanger,tigrfam_NaH_exchanger		0.428	SLC9A6-001	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	SLC9A6	HGNC	protein_coding	OTTHUMT00000058450.1	C	NM_006359		135095119	+1	no_errors	ENST00000370695	ensembl	human	known	70_37	silent	SNP	1.000	T
SLC9A7P1	121456	genome.wustl.edu	37	12	98848804	98848804	+	RNA	SNP	G	G	A			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr12:98848804G>A	ENST00000554295.1	-	0	2119					NR_033801.1				solute carrier family 9, subfamily A (NHE7, cation proton antiporter 7), member 7 pseudogene 1																		GTGGGAACCTGAGAAGCCATT	0.532																																																	0																																												121456					12q23.1	2013-05-22	2012-03-22		ENSG00000227825	ENSG00000227825		"""Solute carriers"""	32679	pseudogene	pseudogene			"""solute carrier family 9 (sodium/hydrogen exchanger), member 7 pseudogene 1"""				Standard	NR_033801		Approved		uc009ztm.2		OTTHUMG00000170629		12.37:g.98848804G>A		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000554295.1	37	NULL		12																																																																																			SLC9A7P1	-	-		0.532	SLC9A7P1-002	PUTATIVE	basic	processed_transcript	SLC9A7P1	HGNC	pseudogene	OTTHUMT00000409869.1	G			98848804	-1	no_errors	ENST00000554295	ensembl	human	putative	70_37	rna	SNP	0.985	A
SLC9C2	284525	genome.wustl.edu	37	1	173506101	173506101	+	Nonsense_Mutation	SNP	G	G	T			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr1:173506101G>T	ENST00000367714.3	-	14	2057	c.1635C>A	c.(1633-1635)tgC>tgA	p.C545*	SLC9C2_ENST00000466087.1_5'UTR|SLC9C2_ENST00000536496.1_Nonsense_Mutation_p.C443*	NM_178527.3	NP_848622.2	Q5TAH2	SL9C2_HUMAN	solute carrier family 9, member C2 (putative)	545					sodium ion transport (GO:0006814)	integral component of membrane (GO:0016021)	solute:proton antiporter activity (GO:0015299)										TGGAGTAATAGCATTTTGCTG	0.299																																																	0													144.0	146.0	145.0					1																	173506101		2203	4299	6502	SO:0001587	stop_gained	284525			AK128104	CCDS1308.1	1q25.1	2013-07-18	2013-07-18	2012-03-22	ENSG00000162753	ENSG00000162753		"""Solute carriers"""	28664	protein-coding gene	gene with protein product			"""solute carrier family 9, isoform 11"", ""solute carrier family 9, member 11"", ""solute carrier family 9, member C2"""	SLC9A11			Standard	NM_178527		Approved	MGC43026	uc001giz.2	Q5TAH2	OTTHUMG00000034800	ENST00000367714.3:c.1635C>A	1.37:g.173506101G>T	ENSP00000356687:p.Cys545*	Somatic		WXS	Illumina HiSeq	Phase_IV	Q86UF3	Nonsense_Mutation	SNP	pfam_Cation/H_exchanger,pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,pfscan_cNMP-bd_dom	p.C545*	ENST00000367714.3	37	c.1635	CCDS1308.1	1	.	.	.	.	.	.	.	.	.	.	G	36	5.873360	0.97049	.	.	ENSG00000162753	ENST00000367714;ENST00000536496	.	.	.	5.52	2.55	0.30701	.	0.348665	0.27946	N	0.017215	.	.	.	.	.	.	0.48975	A	0.999732	.	.	.	.	.	.	.	.	.	.	0.41790	T	0.15	-4.6545	5.3322	0.15938	0.1722:0.0:0.6666:0.1612	.	.	.	.	X	545;443	.	ENSP00000356687:C545X	C	-	3	2	SLC9A11	171772724	1.000000	0.71417	0.291000	0.24904	0.002000	0.02628	2.268000	0.43338	0.262000	0.21774	-0.441000	0.05720	TGC	SLC9C2	-	NULL		0.299	SLC9C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC9C2	HGNC	protein_coding	OTTHUMT00000084205.1	G	NM_178527		173506101	-1	no_errors	ENST00000367714	ensembl	human	known	70_37	nonsense	SNP	0.890	T
SLC9C2	284525	genome.wustl.edu	37	1	173551050	173551050	+	Silent	SNP	A	A	T			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr1:173551050A>T	ENST00000367714.3	-	7	1160	c.738T>A	c.(736-738)gtT>gtA	p.V246V	RP3-436N22.3_ENST00000431459.1_RNA|SLC9C2_ENST00000536496.1_Silent_p.V144V	NM_178527.3	NP_848622.2	Q5TAH2	SL9C2_HUMAN	solute carrier family 9, member C2 (putative)	246					sodium ion transport (GO:0006814)	integral component of membrane (GO:0016021)	solute:proton antiporter activity (GO:0015299)										TATTGCTAAAAACGTCAGCCA	0.323																																																	0													113.0	102.0	106.0					1																	173551050		2203	4299	6502	SO:0001819	synonymous_variant	284525			AK128104	CCDS1308.1	1q25.1	2013-07-18	2013-07-18	2012-03-22	ENSG00000162753	ENSG00000162753		"""Solute carriers"""	28664	protein-coding gene	gene with protein product			"""solute carrier family 9, isoform 11"", ""solute carrier family 9, member 11"", ""solute carrier family 9, member C2"""	SLC9A11			Standard	NM_178527		Approved	MGC43026	uc001giz.2	Q5TAH2	OTTHUMG00000034800	ENST00000367714.3:c.738T>A	1.37:g.173551050A>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q86UF3	Silent	SNP	pfam_Cation/H_exchanger,pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,pfscan_cNMP-bd_dom	p.V246	ENST00000367714.3	37	c.738	CCDS1308.1	1																																																																																			SLC9C2	-	pfam_Cation/H_exchanger		0.323	SLC9C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC9C2	HGNC	protein_coding	OTTHUMT00000084205.1	A	NM_178527		173551050	-1	no_errors	ENST00000367714	ensembl	human	known	70_37	silent	SNP	0.248	T
SLCO1B1	10599	genome.wustl.edu	37	12	21375257	21375257	+	Missense_Mutation	SNP	C	C	T			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr12:21375257C>T	ENST00000256958.2	+	13	1802	c.1706C>T	c.(1705-1707)tCa>tTa	p.S569L		NM_006446.4	NP_006437.3	Q9Y6L6	SO1B1_HUMAN	solute carrier organic anion transporter family, member 1B1	569					bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|organic anion transport (GO:0015711)|small molecule metabolic process (GO:0044281)|sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	sodium-independent organic anion transmembrane transporter activity (GO:0015347)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(33)|ovary(3)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(1)	70					Acetylcysteine(DB06151)|Aminohippurate(DB00345)|Atorvastatin(DB01076)|Axitinib(DB06626)|Benzylpenicillin(DB01053)|Bezafibrate(DB01393)|Cabazitaxel(DB06772)|Caspofungin(DB00520)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Dabrafenib(DB08912)|Dextrothyroxine(DB00509)|Digoxin(DB00390)|Dinoprostone(DB00917)|Eltrombopag(DB06210)|Estradiol(DB00783)|Estrone(DB00655)|Ezetimibe(DB00973)|Fexofenadine(DB00950)|Fluvastatin(DB01095)|Gadoxetate(DB08884)|Gemfibrozil(DB01241)|Indinavir(DB00224)|Irinotecan(DB00762)|L-Carnitine(DB00583)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)|Lovastatin(DB00227)|Methotrexate(DB00563)|Mycophenolate mofetil(DB00688)|Nelfinavir(DB00220)|Olmesartan(DB00275)|Ouabain(DB01092)|Pantoprazole(DB00213)|Pazopanib(DB06589)|Penicillamine(DB00859)|Pioglitazone(DB01132)|Pitavastatin(DB08860)|Pravastatin(DB00175)|Quinidine(DB00908)|Repaglinide(DB00912)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Ritonavir(DB00503)|Rosiglitazone(DB00412)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|SIMEPREVIR(DB06290)|Simvastatin(DB00641)|Sirolimus(DB00877)|Sumatriptan(DB00669)|Valsartan(DB00177)|Verapamil(DB00661)	GAATTGAAATCACTTGCACTG	0.254																																																	0													119.0	113.0	115.0					12																	21375257		2203	4300	6503	SO:0001583	missense	10599				CCDS8685.1	12p12	2013-05-22	2003-11-25	2003-11-26	ENSG00000134538	ENSG00000134538		"""Solute carriers"""	10959	protein-coding gene	gene with protein product		604843	"""solute carrier family 21 (organic anion transporter), member 6"""	SLC21A6		10358072	Standard	NM_006446		Approved	OATP-C, LST-1, OATP1B1	uc001req.4	Q9Y6L6	OTTHUMG00000169047	ENST00000256958.2:c.1706C>T	12.37:g.21375257C>T	ENSP00000256958:p.Ser569Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	B2R7G2|Q29R64|Q9NQ37|Q9UBF3|Q9UH89	Missense_Mutation	SNP	pfam_OA_transporter,pfam_MFS,pfam_Kazal-type_dom,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter	p.S569L	ENST00000256958.2	37	c.1706	CCDS8685.1	12	.	.	.	.	.	.	.	.	.	.	C	17.93	3.508555	0.64410	.	.	ENSG00000134538	ENST00000256958	T	0.60548	0.18	3.61	3.61	0.41365	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.062767	0.64402	D	0.000003	T	0.79690	0.4489	M	0.93898	3.47	0.43803	D	0.996355	D	0.58970	0.984	D	0.68039	0.955	D	0.85007	0.0903	10	0.87932	D	0	.	12.5074	0.55989	0.0:1.0:0.0:0.0	.	569	Q9Y6L6	SO1B1_HUMAN	L	569	ENSP00000256958:S569L	ENSP00000256958:S569L	S	+	2	0	SLCO1B1	21266524	0.998000	0.40836	1.000000	0.80357	0.924000	0.55760	5.032000	0.64140	1.714000	0.51371	0.305000	0.20034	TCA	SLCO1B1	-	pfam_OA_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom,tigrfam_OA_transporter		0.254	SLCO1B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLCO1B1	HGNC	protein_coding	OTTHUMT00000402070.1	C	NM_006446		21375257	+1	no_errors	ENST00000256958	ensembl	human	known	70_37	missense	SNP	1.000	T
SLIT2	9353	genome.wustl.edu	37	4	20597356	20597356	+	Silent	SNP	C	C	T	rs372434910		TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr4:20597356C>T	ENST00000504154.1	+	31	3471	c.3219C>T	c.(3217-3219)tgC>tgT	p.C1073C	SLIT2_ENST00000273739.5_Silent_p.C1086C|SLIT2_ENST00000503823.1_Silent_p.C1065C|SLIT2_ENST00000503837.1_Silent_p.C1069C	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	1073	EGF-like 4. {ECO:0000255|PROSITE- ProRule:PRU00076}.				apoptotic process involved in luteolysis (GO:0061364)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|branching morphogenesis of an epithelial tube (GO:0048754)|cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to heparin (GO:0071504)|cellular response to hormone stimulus (GO:0032870)|chemorepulsion involved in postnatal olfactory bulb interneuron migration (GO:0021836)|corticospinal neuron axon guidance through spinal cord (GO:0021972)|dorsal/ventral axon guidance (GO:0033563)|in utero embryonic development (GO:0001701)|induction of negative chemotaxis (GO:0050929)|mammary duct terminal end bud growth (GO:0060763)|metanephros development (GO:0001656)|motor neuron axon guidance (GO:0008045)|negative chemotaxis (GO:0050919)|negative regulation of actin filament polymerization (GO:0030837)|negative regulation of axon extension (GO:0030517)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cellular response to growth factor stimulus (GO:0090288)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of gene expression (GO:0010629)|negative regulation of lamellipodium assembly (GO:0010593)|negative regulation of leukocyte chemotaxis (GO:0002689)|negative regulation of monocyte chemotaxis (GO:0090027)|negative regulation of mononuclear cell migration (GO:0071676)|negative regulation of neutrophil chemotaxis (GO:0090024)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of retinal ganglion cell axon guidance (GO:0090260)|negative regulation of small GTPase mediated signal transduction (GO:0051058)|negative regulation of smooth muscle cell chemotaxis (GO:0071672)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of vascular permeability (GO:0043116)|positive regulation of apoptotic process (GO:0043065)|positive regulation of axonogenesis (GO:0050772)|response to cortisol (GO:0051414)|retinal ganglion cell axon guidance (GO:0031290)|Roundabout signaling pathway (GO:0035385)|single organismal cell-cell adhesion (GO:0016337)|ureteric bud development (GO:0001657)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|chemorepellent activity (GO:0045499)|GTPase inhibitor activity (GO:0005095)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|laminin-1 binding (GO:0043237)|protein homodimerization activity (GO:0042803)|proteoglycan binding (GO:0043394)|Roundabout binding (GO:0048495)			NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						GTGAACACTGCGACATCGATT	0.463																																																	0								T		0,4406		0,0,2203	220.0	203.0	209.0		3219	-1.4	1.0	4		209	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	SLIT2	NM_004787.1		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		1073/1530	20597356	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	9353			AF055585	CCDS3426.1, CCDS75110.1, CCDS75111.1	4p15.2	2008-08-01	2001-11-28		ENSG00000145147	ENSG00000145147			11086	protein-coding gene	gene with protein product		603746	"""slit (Drosophila) homolog 2"""	SLIL3		9813312, 18269211	Standard	XM_005248211		Approved	Slit-2	uc003gpr.1	O94813	OTTHUMG00000128551	ENST00000504154.1:c.3219C>T	4.37:g.20597356C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B7ZLR5|O95710|Q17RU3|Q9Y5Q7	Silent	SNP	pfam_EG-like_dom,pfam_Laminin_G,pfam_Leu-rich_rpt,pfam_LRR-contain_N,pfam_Cys-rich_flank_reg_C,superfamily_ConA-like_lec_gl_sf,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_EGF-like_Ca-bd,smart_EG-like_dom,smart_Fol_N,smart_Laminin_G,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_EG-like_dom,pfscan_Laminin_G	p.C1073	ENST00000504154.1	37	c.3219	CCDS3426.1	4																																																																																			SLIT2	-	smart_EGF-like_Ca-bd,smart_EG-like_dom,pfscan_EG-like_dom		0.463	SLIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLIT2	HGNC	protein_coding	OTTHUMT00000250396.2	C			20597356	+1	no_errors	ENST00000504154	ensembl	human	known	70_37	silent	SNP	0.965	T
SLIT2	9353	genome.wustl.edu	37	4	20597410	20597410	+	Silent	SNP	C	C	T			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr4:20597410C>T	ENST00000504154.1	+	31	3525	c.3273C>T	c.(3271-3273)tgC>tgT	p.C1091C	SLIT2_ENST00000273739.5_Silent_p.C1104C|SLIT2_ENST00000503823.1_Silent_p.C1083C|SLIT2_ENST00000503837.1_Silent_p.C1087C	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	1091	EGF-like 5; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				apoptotic process involved in luteolysis (GO:0061364)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|branching morphogenesis of an epithelial tube (GO:0048754)|cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to heparin (GO:0071504)|cellular response to hormone stimulus (GO:0032870)|chemorepulsion involved in postnatal olfactory bulb interneuron migration (GO:0021836)|corticospinal neuron axon guidance through spinal cord (GO:0021972)|dorsal/ventral axon guidance (GO:0033563)|in utero embryonic development (GO:0001701)|induction of negative chemotaxis (GO:0050929)|mammary duct terminal end bud growth (GO:0060763)|metanephros development (GO:0001656)|motor neuron axon guidance (GO:0008045)|negative chemotaxis (GO:0050919)|negative regulation of actin filament polymerization (GO:0030837)|negative regulation of axon extension (GO:0030517)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cellular response to growth factor stimulus (GO:0090288)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of gene expression (GO:0010629)|negative regulation of lamellipodium assembly (GO:0010593)|negative regulation of leukocyte chemotaxis (GO:0002689)|negative regulation of monocyte chemotaxis (GO:0090027)|negative regulation of mononuclear cell migration (GO:0071676)|negative regulation of neutrophil chemotaxis (GO:0090024)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of retinal ganglion cell axon guidance (GO:0090260)|negative regulation of small GTPase mediated signal transduction (GO:0051058)|negative regulation of smooth muscle cell chemotaxis (GO:0071672)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of vascular permeability (GO:0043116)|positive regulation of apoptotic process (GO:0043065)|positive regulation of axonogenesis (GO:0050772)|response to cortisol (GO:0051414)|retinal ganglion cell axon guidance (GO:0031290)|Roundabout signaling pathway (GO:0035385)|single organismal cell-cell adhesion (GO:0016337)|ureteric bud development (GO:0001657)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|chemorepellent activity (GO:0045499)|GTPase inhibitor activity (GO:0005095)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|laminin-1 binding (GO:0043237)|protein homodimerization activity (GO:0042803)|proteoglycan binding (GO:0043394)|Roundabout binding (GO:0048495)			NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						GAGCCCACTGCACAGATGCAG	0.473																																																	0													169.0	156.0	160.0					4																	20597410		2203	4300	6503	SO:0001819	synonymous_variant	9353			AF055585	CCDS3426.1, CCDS75110.1, CCDS75111.1	4p15.2	2008-08-01	2001-11-28		ENSG00000145147	ENSG00000145147			11086	protein-coding gene	gene with protein product		603746	"""slit (Drosophila) homolog 2"""	SLIL3		9813312, 18269211	Standard	XM_005248211		Approved	Slit-2	uc003gpr.1	O94813	OTTHUMG00000128551	ENST00000504154.1:c.3273C>T	4.37:g.20597410C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B7ZLR5|O95710|Q17RU3|Q9Y5Q7	Silent	SNP	pfam_EG-like_dom,pfam_Laminin_G,pfam_Leu-rich_rpt,pfam_LRR-contain_N,pfam_Cys-rich_flank_reg_C,superfamily_ConA-like_lec_gl_sf,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_EGF-like_Ca-bd,smart_EG-like_dom,smart_Fol_N,smart_Laminin_G,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_EG-like_dom,pfscan_Laminin_G	p.C1091	ENST00000504154.1	37	c.3273	CCDS3426.1	4																																																																																			SLIT2	-	pfam_EG-like_dom,smart_EGF-like_Ca-bd,smart_EG-like_dom,pfscan_EG-like_dom		0.473	SLIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLIT2	HGNC	protein_coding	OTTHUMT00000250396.2	C			20597410	+1	no_errors	ENST00000504154	ensembl	human	known	70_37	silent	SNP	1.000	T
SLIT2	9353	genome.wustl.edu	37	4	20620537	20620537	+	Missense_Mutation	SNP	C	C	T			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr4:20620537C>T	ENST00000504154.1	+	37	4747	c.4495C>T	c.(4495-4497)Cgg>Tgg	p.R1499W	SLIT2_ENST00000273739.5_Missense_Mutation_p.R1512W|SLIT2_ENST00000503823.1_Missense_Mutation_p.R1491W|SLIT2_ENST00000503837.1_Missense_Mutation_p.R1495W	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	1499	CTCK. {ECO:0000255|PROSITE- ProRule:PRU00039, ECO:0000305}.				apoptotic process involved in luteolysis (GO:0061364)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|branching morphogenesis of an epithelial tube (GO:0048754)|cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to heparin (GO:0071504)|cellular response to hormone stimulus (GO:0032870)|chemorepulsion involved in postnatal olfactory bulb interneuron migration (GO:0021836)|corticospinal neuron axon guidance through spinal cord (GO:0021972)|dorsal/ventral axon guidance (GO:0033563)|in utero embryonic development (GO:0001701)|induction of negative chemotaxis (GO:0050929)|mammary duct terminal end bud growth (GO:0060763)|metanephros development (GO:0001656)|motor neuron axon guidance (GO:0008045)|negative chemotaxis (GO:0050919)|negative regulation of actin filament polymerization (GO:0030837)|negative regulation of axon extension (GO:0030517)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cellular response to growth factor stimulus (GO:0090288)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of gene expression (GO:0010629)|negative regulation of lamellipodium assembly (GO:0010593)|negative regulation of leukocyte chemotaxis (GO:0002689)|negative regulation of monocyte chemotaxis (GO:0090027)|negative regulation of mononuclear cell migration (GO:0071676)|negative regulation of neutrophil chemotaxis (GO:0090024)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of retinal ganglion cell axon guidance (GO:0090260)|negative regulation of small GTPase mediated signal transduction (GO:0051058)|negative regulation of smooth muscle cell chemotaxis (GO:0071672)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of vascular permeability (GO:0043116)|positive regulation of apoptotic process (GO:0043065)|positive regulation of axonogenesis (GO:0050772)|response to cortisol (GO:0051414)|retinal ganglion cell axon guidance (GO:0031290)|Roundabout signaling pathway (GO:0035385)|single organismal cell-cell adhesion (GO:0016337)|ureteric bud development (GO:0001657)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|chemorepellent activity (GO:0045499)|GTPase inhibitor activity (GO:0005095)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|laminin-1 binding (GO:0043237)|protein homodimerization activity (GO:0042803)|proteoglycan binding (GO:0043394)|Roundabout binding (GO:0048495)			NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						GAGGAGCAAGCGGCGGAAATA	0.557																																																	0													131.0	109.0	117.0					4																	20620537		2203	4300	6503	SO:0001583	missense	9353			AF055585	CCDS3426.1, CCDS75110.1, CCDS75111.1	4p15.2	2008-08-01	2001-11-28		ENSG00000145147	ENSG00000145147			11086	protein-coding gene	gene with protein product		603746	"""slit (Drosophila) homolog 2"""	SLIL3		9813312, 18269211	Standard	XM_005248211		Approved	Slit-2	uc003gpr.1	O94813	OTTHUMG00000128551	ENST00000504154.1:c.4495C>T	4.37:g.20620537C>T	ENSP00000422591:p.Arg1499Trp	Somatic		WXS	Illumina HiSeq	Phase_IV	B7ZLR5|O95710|Q17RU3|Q9Y5Q7	Missense_Mutation	SNP	pfam_EG-like_dom,pfam_Laminin_G,pfam_Leu-rich_rpt,pfam_LRR-contain_N,pfam_Cys-rich_flank_reg_C,superfamily_ConA-like_lec_gl_sf,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_EGF-like_Ca-bd,smart_EG-like_dom,smart_Fol_N,smart_Laminin_G,smart_Cys_knot_C,pfscan_Cys_knot_C,pfscan_EG-like_dom,pfscan_Laminin_G	p.R1499W	ENST00000504154.1	37	c.4495	CCDS3426.1	4	.	.	.	.	.	.	.	.	.	.	C	18.14	3.557778	0.65425	.	.	ENSG00000145147	ENST00000503823;ENST00000504154;ENST00000273739;ENST00000382173;ENST00000503837	D;D;T;D	0.81996	-1.55;-1.56;-1.47;-1.53	6.17	-0.19	0.13256	Cystine knot, C-terminal (3);	0.000000	0.85682	D	0.000000	D	0.91033	0.7179	M	0.83953	2.67	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	D	0.92103	0.5690	10	0.87932	D	0	.	18.5711	0.91136	0.7328:0.2672:0.0:0.0	.	1491;1499	O94813-3;O94813	.;SLIT2_HUMAN	W	1491;1499;1512;1495;1495	ENSP00000427548:R1491W;ENSP00000422591:R1499W;ENSP00000273739:R1512W;ENSP00000422261:R1495W	ENSP00000273739:R1512W	R	+	1	2	SLIT2	20229635	1.000000	0.71417	0.988000	0.46212	0.920000	0.55202	1.329000	0.33770	0.017000	0.15025	0.655000	0.94253	CGG	SLIT2	-	smart_Cys_knot_C,pfscan_Cys_knot_C		0.557	SLIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLIT2	HGNC	protein_coding	OTTHUMT00000250396.2	C			20620537	+1	no_errors	ENST00000504154	ensembl	human	known	70_37	missense	SNP	0.999	T
SLX4IP	128710	genome.wustl.edu	37	20	10602039	10602039	+	Silent	SNP	C	C	G	rs148003716	byFrequency	TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr20:10602039C>G	ENST00000334534.5	+	7	663	c.483C>G	c.(481-483)ctC>ctG	p.L161L		NM_001009608.1	NP_001009608.1	Q5VYV7	SLX4I_HUMAN	SLX4 interacting protein	161																	GTGCAAAGCTCCGGAGAAATG	0.403																																																	0								C		0,4406		0,0,2203	139.0	119.0	126.0		483	3.7	0.3	20	dbSNP_134	126	4,8596	3.7+/-12.6	0,4,4296	no	coding-synonymous	C20orf94	NM_001009608.1		0,4,6499	GG,GC,CC		0.0465,0.0,0.0308		161/409	10602039	4,13002	2203	4300	6503	SO:0001819	synonymous_variant	128710			AL035456	CCDS33439.1	20p12	2012-10-30	2012-10-30	2012-10-30	ENSG00000149346	ENSG00000149346			16225	protein-coding gene	gene with protein product		615958	"""chromosome 20 open reading frame 94"""	C20orf94		19596235	Standard	XM_005260664		Approved	dJ1099D15.3	uc010zre.2	Q5VYV7	OTTHUMG00000031873	ENST00000334534.5:c.483C>G	20.37:g.10602039C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	Q05CG2|Q05CT9	Silent	SNP	NULL	p.L161	ENST00000334534.5	37	c.483	CCDS33439.1	20																																																																																			SLX4IP	-	NULL		0.403	SLX4IP-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SLX4IP	HGNC	protein_coding	OTTHUMT00000078000.3	C	NM_001009608		10602039	+1	no_errors	ENST00000334534	ensembl	human	known	70_37	silent	SNP	0.037	G
SMAD4	4089	genome.wustl.edu	37	18	48573511	48573511	+	Missense_Mutation	SNP	G	G	C			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr18:48573511G>C	ENST00000342988.3	+	2	633	c.95G>C	c.(94-96)aGt>aCt	p.S32T	SMAD4_ENST00000452201.2_Missense_Mutation_p.S32T|RP11-729L2.2_ENST00000590722.2_3'UTR|SMAD4_ENST00000588745.1_Missense_Mutation_p.S32T|SMAD4_ENST00000398417.2_Missense_Mutation_p.S32T	NM_005359.5	NP_005350.1	Q13485	SMAD4_HUMAN	SMAD family member 4	32	MH1. {ECO:0000255|PROSITE- ProRule:PRU00438}.				atrioventricular canal development (GO:0036302)|atrioventricular valve formation (GO:0003190)|axon guidance (GO:0007411)|BMP signaling pathway (GO:0030509)|brainstem development (GO:0003360)|branching involved in ureteric bud morphogenesis (GO:0001658)|cardiac septum development (GO:0003279)|cell proliferation (GO:0008283)|developmental growth (GO:0048589)|endocardial cell differentiation (GO:0060956)|endoderm development (GO:0007492)|endothelial cell activation (GO:0042118)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|formation of anatomical boundary (GO:0048859)|gastrulation with mouth forming second (GO:0001702)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|intracellular signal transduction (GO:0035556)|mesoderm development (GO:0007498)|metanephric mesenchyme morphogenesis (GO:0072133)|negative regulation of cell death (GO:0060548)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nephrogenic mesenchyme morphogenesis (GO:0072134)|neural crest cell differentiation (GO:0014033)|neuron fate commitment (GO:0048663)|palate development (GO:0060021)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cell proliferation involved in heart valve morphogenesis (GO:0003251)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of pathway-restricted SMAD protein phosphorylation (GO:0010862)|positive regulation of SMAD protein import into nucleus (GO:0060391)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of binding (GO:0051098)|regulation of hair follicle development (GO:0051797)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|regulation of transforming growth factor beta2 production (GO:0032909)|response to hypoxia (GO:0001666)|response to transforming growth factor beta (GO:0071559)|sebaceous gland development (GO:0048733)|SMAD protein complex assembly (GO:0007183)|SMAD protein signal transduction (GO:0060395)|somite rostral/caudal axis specification (GO:0032525)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	activin responsive factor complex (GO:0032444)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|SMAD protein complex (GO:0071141)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|core promoter proximal region sequence-specific DNA binding (GO:0000987)|I-SMAD binding (GO:0070411)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|R-SMAD binding (GO:0070412)|RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|transforming growth factor beta receptor, common-partner cytoplasmic mediator activity (GO:0030616)	p.0?(36)|p.?(5)		NS(2)|biliary_tract(19)|breast(9)|central_nervous_system(2)|endometrium(2)|gastrointestinal_tract_(site_indeterminate)(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(142)|liver(2)|lung(27)|oesophagus(4)|ovary(7)|pancreas(180)|prostate(3)|skin(1)|small_intestine(9)|stomach(5)|testis(2)|thyroid(19)|upper_aerodigestive_tract(10)|urinary_tract(2)|vulva(1)	454		all_cancers(7;0.203)|Colorectal(6;0.003)|all_epithelial(6;0.00336)		Colorectal(16;0.0032)|COAD - Colon adenocarcinoma(17;0.0708)|READ - Rectum adenocarcinoma(32;0.155)		GGTGGAGAGAGTGAAACATTT	0.353																																																	41	Whole gene deletion(36)|Unknown(5)	pancreas(26)|large_intestine(3)|stomach(3)|breast(3)|lung(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|oesophagus(1)|NS(1)											132.0	124.0	126.0					18																	48573511		2203	4300	6503	SO:0001583	missense	4089			U44378	CCDS11950.1	18q21.1	2014-09-17	2006-11-06	2004-05-26	ENSG00000141646	ENSG00000141646		"""SMADs"""	6770	protein-coding gene	gene with protein product		600993	"""MAD, mothers against decapentaplegic homolog 4 (Drosophila)"", ""SMAD, mothers against DPP homolog 4 (Drosophila)"""	MADH4		8553070, 8774881	Standard	NM_005359		Approved	DPC4	uc010xdp.2	Q13485	OTTHUMG00000132696	ENST00000342988.3:c.95G>C	18.37:g.48573511G>C	ENSP00000341551:p.Ser32Thr	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K405	Missense_Mutation	SNP	pfam_SMAD_dom_Dwarfin-type,pfam_MAD_homology1_Dwarfin-type,superfamily_SMAD_FHA_domain,superfamily_MAD_homology_MH1,smart_MAD_homology1_Dwarfin-type,smart_SMAD_dom_Dwarfin-type,pfscan_MAD_homology_MH1,pfscan_SMAD_dom_Dwarfin-type	p.S32T	ENST00000342988.3	37	c.95	CCDS11950.1	18	.	.	.	.	.	.	.	.	.	.	G	17.92	3.506315	0.64410	.	.	ENSG00000141646	ENST00000452201;ENST00000342988;ENST00000544926;ENST00000398417	T;T;T	0.71817	-0.6;-0.6;-0.6	5.86	5.86	0.93980	MAD homology, MH1 (3);MAD homology 1, Dwarfin-type (1);	0.040380	0.85682	D	0.000000	T	0.60612	0.2282	N	0.21142	0.635	0.58432	D	0.999999	B	0.15930	0.015	B	0.10450	0.005	T	0.52917	-0.8511	10	0.33141	T	0.24	.	18.9469	0.92625	0.0:0.0:1.0:0.0	.	32	Q13485	SMAD4_HUMAN	T	32	ENSP00000409551:S32T;ENSP00000341551:S32T;ENSP00000381452:S32T	ENSP00000341551:S32T	S	+	2	0	SMAD4	46827509	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.781000	0.75068	2.774000	0.95407	0.655000	0.94253	AGT	SMAD4	-	superfamily_MAD_homology_MH1,smart_MAD_homology1_Dwarfin-type,pfscan_MAD_homology_MH1		0.353	SMAD4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	SMAD4	HGNC	protein_coding	OTTHUMT00000255993.3	G	NM_005359		48573511	+1	no_errors	ENST00000342988	ensembl	human	known	70_37	missense	SNP	1.000	C
SMARCA1	6594	genome.wustl.edu	37	X	128615115	128615115	+	Silent	SNP	T	T	C			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chrX:128615115T>C	ENST00000371122.4	-	18	2394	c.2265A>G	c.(2263-2265)gcA>gcG	p.A755A	SMARCA1_ENST00000371123.1_Silent_p.A743A|SMARCA1_ENST00000371121.3_Silent_p.A743A	NM_003069.3	NP_003060.2	P28370	SMCA1_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 1	755					ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|brain development (GO:0007420)|chromatin remodeling (GO:0006338)|DNA strand renaturation (GO:0000733)|neuron differentiation (GO:0030182)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of neural precursor cell proliferation (GO:2000177)|transcription, DNA-templated (GO:0006351)	CERF complex (GO:0090537)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|NURF complex (GO:0016589)	annealing helicase activity (GO:0036310)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|liver(1)|lung(13)|ovary(5)|prostate(1)|skin(1)	45						CTGCGTAGTTTGCTTTGCGTT	0.423																																																	0													189.0	127.0	148.0					X																	128615115		2203	4300	6503	SO:0001819	synonymous_variant	6594			M88163	CCDS14612.1, CCDS76018.1, CCDS76019.1	Xq25	2008-02-05			ENSG00000102038	ENSG00000102038			11097	protein-coding gene	gene with protein product		300012		SNF2L1, SNF2L		1408766, 14609955	Standard	XM_005262461		Approved	SNF2LB, NURF140, ISWI, SWI	uc004eun.4	P28370	OTTHUMG00000022370	ENST00000371122.4:c.2265A>G	X.37:g.128615115T>C		Somatic		WXS	Illumina HiSeq	Phase_IV	Q5JV41|Q5JV42	Silent	SNP	pfam_SNF2_N,pfam_SLIDE,pfam_ATPase_nucl-remodel_HAND-dom,pfam_Helicase_C,pfam_Helicase/UvrB_dom,pfam_DNA/RNA_helicase_DEAD/DEAH_N,superfamily_Homeodomain-like,superfamily_ATPase_nucl-remodel_HAND-dom,smart_Helicase_ATP-bd,smart_Helicase_C,smart_SANT/Myb,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.A755	ENST00000371122.4	37	c.2265	CCDS14612.1	X																																																																																			SMARCA1	-	NULL		0.423	SMARCA1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SMARCA1	HGNC	protein_coding	OTTHUMT00000058206.1	T	NM_003069		128615115	-1	no_errors	ENST00000371122	ensembl	human	known	70_37	silent	SNP	0.258	C
SMARCA4	6597	genome.wustl.edu	37	19	11105560	11105560	+	Silent	SNP	C	C	A	rs528531511		TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr19:11105560C>A	ENST00000429416.3	+	10	1757	c.1476C>A	c.(1474-1476)tcC>tcA	p.S492S	SMARCA4_ENST00000541122.2_Silent_p.S492S|SMARCA4_ENST00000413806.3_Silent_p.S492S|SMARCA4_ENST00000344626.4_Silent_p.S492S|SMARCA4_ENST00000589677.1_Silent_p.S492S|SMARCA4_ENST00000358026.2_Silent_p.S492S|SMARCA4_ENST00000590574.1_Silent_p.S492S|SMARCA4_ENST00000450717.3_Silent_p.S492S|SMARCA4_ENST00000444061.3_Silent_p.S492S	NM_001128844.1	NP_001122316.1	P51532	SMCA4_HUMAN	SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4	492	HSA. {ECO:0000255|PROSITE- ProRule:PRU00549}.				aortic smooth muscle cell differentiation (GO:0035887)|ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|blastocyst growth (GO:0001832)|blastocyst hatching (GO:0001835)|cell morphogenesis (GO:0000902)|chromatin remodeling (GO:0006338)|definitive erythrocyte differentiation (GO:0060318)|DNA methylation on cytosine within a CG sequence (GO:0010424)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic organ morphogenesis (GO:0048562)|epidermis morphogenesis (GO:0048730)|extracellular matrix organization (GO:0030198)|forebrain development (GO:0030900)|glial cell fate determination (GO:0007403)|heart trabecula formation (GO:0060347)|hindbrain development (GO:0030902)|histone H3 acetylation (GO:0043966)|keratinocyte differentiation (GO:0030216)|lens fiber cell development (GO:0070307)|liver development (GO:0001889)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of cell growth (GO:0030308)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter during mitosis (GO:0007070)|negative regulation of transcription, DNA-templated (GO:0045892)|neural retina development (GO:0003407)|nucleosome disassembly (GO:0006337)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of DNA binding (GO:0043388)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell maintenance (GO:0019827)|vasculogenesis (GO:0001570)	extracellular space (GO:0005615)|heterochromatin (GO:0000792)|membrane (GO:0016020)|nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nuclear euchromatin (GO:0005719)|nucleolus (GO:0005730)|nucleus (GO:0005634)|perichromatin fibrils (GO:0005726)|protein complex (GO:0043234)|SWI/SNF complex (GO:0016514)	androgen receptor binding (GO:0050681)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|protein N-terminus binding (GO:0047485)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription coactivator activity (GO:0001105)|Tat protein binding (GO:0030957)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)	p.?(1)		adrenal_gland(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(23)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|liver(4)|lung(60)|ovary(10)|pancreas(7)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	163		all_lung(6;0.0512)|Lung NSC(9;0.0568)				ATCACAGATCCGTCACAGGCA	0.517			"""F, N, Mis"""		NSCLC																																			Rec	yes		19	19p13.2	6597	"""SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4"""		E	1	Unknown(1)	lung(1)											105.0	92.0	96.0					19																	11105560		2203	4300	6503	SO:0001819	synonymous_variant	6597			D26156	CCDS12253.1, CCDS45972.1, CCDS45973.1, CCDS54217.1, CCDS54218.1	19p13.3	2014-09-17	2006-11-09		ENSG00000127616	ENSG00000127616			11100	protein-coding gene	gene with protein product	"""SNF2-like 4"", ""global transcription activator homologous sequence"", ""sucrose nonfermenting-like 4"", ""mitotic growth and transcription activator"", ""BRM/SWI2-related gene 1"", ""homeotic gene regulator"", ""nuclear protein GRB1"", ""brahma protein-like 1"", ""ATP-dependent helicase SMARCA4"""	603254		SNF2L4		8208605	Standard	NM_003072		Approved	hSNF2b, BRG1, BAF190, SNF2, SWI2, SNF2-BETA, SNF2LB, FLJ39786	uc010dxo.3	P51532	OTTHUMG00000169272	ENST00000429416.3:c.1476C>A	19.37:g.11105560C>A		Somatic		WXS	Illumina HiSeq	Phase_IV	B1A8Z4|B1A8Z5|B1A8Z6|B1A8Z7|E9PBR8|O95052|Q9HBD3	Silent	SNP	pfam_SNF2_N,pfam_Bromodomain,pfam_BRK_domain,pfam_HSA,pfam_Helicase_C,pfam_Gln-Leu-Gln_QLQ,superfamily_Bromodomain,smart_Gln-Leu-Gln_QLQ,smart_HAS_subgr,smart_BRK_domain,smart_Helicase_ATP-bd,smart_Helicase_C,smart_Bromodomain,pfscan_Helicase/SANT-assoc_DNA-bd,pfscan_Helicase_ATP-bd,pfscan_Helicase_C,pfscan_Bromodomain,prints_Bromodomain	p.S492	ENST00000429416.3	37	c.1476	CCDS12253.1	19																																																																																			SMARCA4	-	pfam_HSA,smart_HAS_subgr,pfscan_Helicase/SANT-assoc_DNA-bd		0.517	SMARCA4-007	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	SMARCA4	HGNC	protein_coding	OTTHUMT00000452638.2	C	NM_003072		11105560	+1	no_errors	ENST00000358026	ensembl	human	known	70_37	silent	SNP	0.010	A
SMG5	23381	genome.wustl.edu	37	1	156236369	156236369	+	Silent	SNP	G	G	A			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr1:156236369G>A	ENST00000361813.5	-	11	1362	c.1218C>T	c.(1216-1218)ggC>ggT	p.G406G	SMG5_ENST00000489907.2_5'UTR|SMG5_ENST00000368267.5_Intron	NM_015327.2	NP_056142.2	Q9UPR3	SMG5_HUMAN	SMG5 nonsense mediated mRNA decay factor	406					gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of dephosphorylation (GO:0035303)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	protein phosphatase 2A binding (GO:0051721)			NS(1)|breast(3)|endometrium(8)|kidney(2)|large_intestine(7)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	48	Hepatocellular(266;0.158)					CGGGATTCTCGCCCTCTTCCA	0.562																																																	0													108.0	97.0	101.0					1																	156236369		2203	4300	6503	SO:0001819	synonymous_variant	23381			AB029012	CCDS1137.1	1q21	2013-07-02	2013-07-02		ENSG00000198952	ENSG00000198952			24644	protein-coding gene	gene with protein product	"""EST1 telomerase component homolog B (S. cerevisiae)"""	610962	"""smg-5 homolog, nonsense mediated mRNA decay factor (C. elegans)"""			12676087, 12699629	Standard	NM_015327		Approved	KIAA1089, LPTS-RP1, LPTSRP1, RP11-54H19.7, SMG-5, EST1B	uc001foc.4	Q9UPR3	OTTHUMG00000017491	ENST00000361813.5:c.1218C>T	1.37:g.156236369G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	D3DVB7|Q5QJE7|Q659C7|Q8IXC0|Q8IY09|Q96IJ7	Silent	SNP	pfam_EST1,smart_PINc_nuc-bd	p.G406	ENST00000361813.5	37	c.1218	CCDS1137.1	1																																																																																			SMG5	-	NULL		0.562	SMG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SMG5	HGNC	protein_coding	OTTHUMT00000046308.1	G	NM_015327		156236369	-1	no_errors	ENST00000361813	ensembl	human	known	70_37	silent	SNP	0.948	A
SMG6	23293	genome.wustl.edu	37	17	2201296	2201296	+	Missense_Mutation	SNP	G	G	C			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr17:2201296G>C	ENST00000263073.6	-	3	1951	c.1901C>G	c.(1900-1902)tCt>tGt	p.S634C	SMG6_ENST00000544865.1_Missense_Mutation_p.S603C	NM_017575.4	NP_060045.4	Q86US8	EST1A_HUMAN	SMG6 nonsense mediated mRNA decay factor	634					gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of dephosphorylation (GO:0035303)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|telomere maintenance (GO:0000723)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleolus (GO:0005730)|nucleus (GO:0005634)|telomerase holoenzyme complex (GO:0005697)	endoribonuclease activity (GO:0004521)|metal ion binding (GO:0046872)|telomeric DNA binding (GO:0042162)			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(7)|lung(10)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						CTGATTATCAGAGAACTCAAT	0.408																																					Melanoma(59;28 1088 11621 25887 46638 50814)												0													85.0	82.0	83.0					17																	2201296		2203	4300	6503	SO:0001583	missense	23293			AB018275	CCDS11016.1, CCDS58498.1	17p13.3	2013-07-02	2013-07-02	2006-02-16	ENSG00000070366	ENSG00000070366			17809	protein-coding gene	gene with protein product	"""EST1 telomerase component homolog A (S. cerevisiae)"""	610963	"""chromosome 17 open reading frame 31"", ""smg-6 homolog, nonsense mediated mRNA decay factor (C. elegans)"""	C17orf31		12676087, 12699629	Standard	NM_017575		Approved	KIAA0732, SMG-6, EST1A	uc002fub.1	Q86US8	OTTHUMG00000177578	ENST00000263073.6:c.1901C>G	17.37:g.2201296G>C	ENSP00000263073:p.Ser634Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	B7Z874|O94837|Q86VH6|Q9UF60	Missense_Mutation	SNP	pfam_EST1,smart_PINc_nuc-bd	p.S634C	ENST00000263073.6	37	c.1901	CCDS11016.1	17	.	.	.	.	.	.	.	.	.	.	G	16.05	3.013752	0.54468	.	.	ENSG00000070366	ENST00000263073;ENST00000544865	T;T	0.18174	2.23;2.23	5.73	5.73	0.89815	.	0.000000	0.85682	D	0.000000	T	0.31734	0.0806	L	0.32530	0.975	0.80722	D	1	D	0.89917	1.0	D	0.67231	0.95	T	0.00832	-1.1548	10	0.28530	T	0.3	-5.0687	19.9022	0.96990	0.0:0.0:1.0:0.0	.	634	Q86US8	EST1A_HUMAN	C	634;603	ENSP00000263073:S634C;ENSP00000443920:S603C	ENSP00000263073:S634C	S	-	2	0	SMG6	2148046	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.163000	0.94750	2.687000	0.91594	0.655000	0.94253	TCT	SMG6	-	NULL		0.408	SMG6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SMG6	HGNC	protein_coding	OTTHUMT00000437826.3	G			2201296	-1	no_errors	ENST00000263073	ensembl	human	known	70_37	missense	SNP	1.000	C
SMPD2	6610	genome.wustl.edu	37	6	109763769	109763769	+	Silent	SNP	G	G	A			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr6:109763769G>A	ENST00000258052.3	+	6	791	c.432G>A	c.(430-432)caG>caA	p.Q144Q	PPIL6_ENST00000424445.2_5'Flank|PPIL6_ENST00000521072.2_5'Flank|PPIL6_ENST00000440797.2_5'Flank	NM_003080.2	NP_003071.2	O60906	NSMA_HUMAN	sphingomyelin phosphodiesterase 2, neutral membrane (neutral sphingomyelinase)	144					apoptotic signaling pathway (GO:0097190)|ceramide biosynthetic process (GO:0046513)|glycosphingolipid metabolic process (GO:0006687)|neurotrophin TRK receptor signaling pathway (GO:0048011)|response to mechanical stimulus (GO:0009612)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)|sphingomyelin metabolic process (GO:0006684)	caveola (GO:0005901)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)|sphingomyelin phosphodiesterase activity (GO:0004767)			endometrium(2)|lung(3)|stomach(1)|upper_aerodigestive_tract(2)	8		all_cancers(87;1.1e-06)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.000144)|all_lung(197;0.0221)|Colorectal(196;0.0488)|Lung SC(18;0.0548)		Epithelial(106;0.0137)|all cancers(137;0.0188)|OV - Ovarian serous cystadenocarcinoma(136;0.0228)|BRCA - Breast invasive adenocarcinoma(108;0.0566)		ACAATCGACAGAAGGACATCT	0.522																																																	0													169.0	146.0	154.0					6																	109763769		2203	4300	6503	SO:0001819	synonymous_variant	6610			AJ222801	CCDS5075.1	6q21	2009-10-23			ENSG00000135587	ENSG00000135587	3.1.4.12		11121	protein-coding gene	gene with protein product		603498				9520418	Standard	XM_005267109		Approved	nSMase, ISC1	uc003pti.3	O60906	OTTHUMG00000015348	ENST00000258052.3:c.432G>A	6.37:g.109763769G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q5TED1|Q9BWR3	Silent	SNP	pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase	p.Q144	ENST00000258052.3	37	c.432	CCDS5075.1	6																																																																																			SMPD2	-	pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase		0.522	SMPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SMPD2	HGNC	protein_coding	OTTHUMT00000041755.1	G			109763769	+1	no_errors	ENST00000258052	ensembl	human	known	70_37	silent	SNP	0.984	A
SMOC2	64094	genome.wustl.edu	37	6	168947799	168947799	+	Splice_Site	SNP	A	A	T			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr6:168947799A>T	ENST00000356284.2	+	6	732	c.512A>T	c.(511-513)gAt>gTt	p.D171V	SMOC2_ENST00000354536.5_Missense_Mutation_p.D182V	NM_001166412.1	NP_001159884.1	Q9H3U7	SMOC2_HUMAN	SPARC related modular calcium binding 2	171					extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)|signal transduction (GO:0007165)	basement membrane (GO:0005604)|interstitial matrix (GO:0005614)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	32		Breast(66;0.000141)|Esophageal squamous(34;0.222)|Ovarian(120;0.231)		OV - Ovarian serous cystadenocarcinoma(33;1.31e-19)|BRCA - Breast invasive adenocarcinoma(81;3.06e-06)|GBM - Glioblastoma multiforme(31;0.00109)		CTGAATTCAGATGATGCCGCA	0.522																																																	0													180.0	168.0	172.0					6																	168947799		2203	4300	6503	SO:0001630	splice_region_variant	64094			AB014730	CCDS5307.1, CCDS55076.1	6q27	2013-01-10			ENSG00000112562	ENSG00000112562		"""EF-hand domain containing"""	20323	protein-coding gene	gene with protein product		607223				12031507	Standard	NM_022138		Approved	SMAP2	uc003qwr.2	Q9H3U7	OTTHUMG00000016050	ENST00000356284.2:c.512-1A>T	6.37:g.168947799A>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B3KPS7|Q4G169|Q5TAT7|Q5TAT8|Q86VV9|Q96SF3|Q9H1L3|Q9H1L4|Q9H3U0|Q9H4F7|Q9HCV2	Missense_Mutation	SNP	pfam_Thyroglobulin_1,pfam_SPARC/Testican_Ca-bd-dom,pfam_Kazal-type_dom,pfam_Prot_inh_Kazal,superfamily_Thyroglobulin_1,smart_Prot_inh_Kazal,smart_Thyroglobulin_1,pfscan_EF_HAND_2,pfscan_Thyroglobulin_1	p.D182V	ENST00000356284.2	37	c.545	CCDS55076.1	6	.	.	.	.	.	.	.	.	.	.	.	17.38	3.374121	0.61735	.	.	ENSG00000112562	ENST00000356284;ENST00000354536;ENST00000366793	T;T	0.38240	1.21;1.15	5.24	5.24	0.73138	.	0.101927	0.46442	D	0.000300	T	0.33527	0.0866	L	0.29908	0.895	0.58432	D	0.999998	P;D	0.62365	0.725;0.991	B;D	0.63381	0.424;0.914	T	0.19516	-1.0303	10	0.52906	T	0.07	.	12.9327	0.58296	1.0:0.0:0.0:0.0	.	171;182	Q9H3U7;Q9H3U7-2	SMOC2_HUMAN;.	V	171;182;171	ENSP00000348630:D171V;ENSP00000346537:D182V	ENSP00000346537:D182V	D	+	2	0	SMOC2	168690648	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.879000	0.75572	1.974000	0.57490	0.524000	0.50904	GAT	SMOC2	-	superfamily_Thyroglobulin_1		0.522	SMOC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SMOC2	HGNC	protein_coding	OTTHUMT00000043201.1	A		Missense_Mutation	168947799	+1	no_errors	ENST00000354536	ensembl	human	known	70_37	missense	SNP	1.000	T
SMTN	6525	genome.wustl.edu	37	22	31487222	31487222	+	Missense_Mutation	SNP	G	G	A			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr22:31487222G>A	ENST00000347557.2	+	10	1431	c.1213G>A	c.(1213-1215)Gcc>Acc	p.A405T	SMTN_ENST00000358743.1_Missense_Mutation_p.A405T|SMTN_ENST00000404574.1_5'Flank|SMTN_ENST00000333137.7_Missense_Mutation_p.A405T	NM_001207017.1|NM_006932.4	NP_001193946.1|NP_008863.3	P53814	SMTN_HUMAN	smoothelin	405					muscle organ development (GO:0007517)|smooth muscle contraction (GO:0006939)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	actin binding (GO:0003779)|structural constituent of muscle (GO:0008307)			breast(2)|endometrium(2)|large_intestine(5)|lung(9)|ovary(3)|pancreas(1)|prostate(3)	25						CCAGCCCCTGGCCCAGCTTCG	0.687																																																	0													9.0	12.0	11.0					22																	31487222		2186	4261	6447	SO:0001583	missense	6525			AY061972	CCDS13886.1, CCDS13887.1, CCDS13888.1, CCDS74845.1, CCDS74846.1	22q12	2006-01-27			ENSG00000183963	ENSG00000183963			11126	protein-coding gene	gene with protein product		602127				9244445, 8707825	Standard	NM_006932		Approved		uc011ale.2	P53814	OTTHUMG00000151203	ENST00000347557.2:c.1213G>A	22.37:g.31487222G>A	ENSP00000328635:p.Ala405Thr	Somatic		WXS	Illumina HiSeq	Phase_IV	O00569|O95769|O95937|Q8N4H8|Q8WWW1|Q8WWW2|Q9P1S8|Q9UIT1|Q9UIT2	Missense_Mutation	SNP	pfam_Smoothelin,pfam_CH-domain,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain	p.A405T	ENST00000347557.2	37	c.1213	CCDS13886.1	22	.	.	.	.	.	.	.	.	.	.	G	15.65	2.896593	0.52121	.	.	ENSG00000183963	ENST00000358743;ENST00000347557;ENST00000333137;ENST00000329852;ENST00000404496	T;T;T	0.71817	-0.17;-0.6;-0.59	5.05	4.04	0.47022	.	.	.	.	.	T	0.67401	0.2889	L	0.54323	1.7	0.80722	D	1	P;P;D;P;P;P	0.54397	0.728;0.873;0.966;0.773;0.91;0.926	B;B;P;B;B;P	0.48334	0.138;0.387;0.505;0.253;0.294;0.574	T	0.63559	-0.6610	9	0.22706	T	0.39	-17.4868	9.7453	0.40442	0.0784:0.1413:0.7802:0.0	.	461;459;397;405;405;405	E7ETT8;B4E229;B5MC56;E7EWD0;P53814;P53814-5	.;.;.;.;SMTN_HUMAN;.	T	405;405;405;403;397	ENSP00000351593:A405T;ENSP00000328635:A405T;ENSP00000329532:A405T	ENSP00000329393:A403T	A	+	1	0	SMTN	29817222	1.000000	0.71417	1.000000	0.80357	0.313000	0.28021	1.824000	0.39072	1.281000	0.44480	0.491000	0.48974	GCC	SMTN	-	NULL		0.687	SMTN-001	KNOWN	basic|CCDS	protein_coding	SMTN	HGNC	protein_coding	OTTHUMT00000321766.1	G	NM_134270		31487222	+1	no_errors	ENST00000347557	ensembl	human	known	70_37	missense	SNP	1.000	A
SMYD3	64754	genome.wustl.edu	37	1	246670379	246670379	+	Silent	SNP	G	G	A			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr1:246670379G>A	ENST00000388985.4	-	1	140	c.141C>T	c.(139-141)gtC>gtT	p.V47V	SMYD3_ENST00000403792.3_Silent_p.V47V|SMYD3_ENST00000490107.1_5'UTR			Q9H7B4	SMYD3_HUMAN	SET and MYND domain containing 3	47	SET. {ECO:0000255|PROSITE- ProRule:PRU00190}.				cellular response to dexamethasone stimulus (GO:0071549)|establishment of protein localization (GO:0045184)|myotube cell development (GO:0014904)|negative regulation of protein kinase activity (GO:0006469)|nucleosome assembly (GO:0006334)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	histone-lysine N-methyltransferase activity (GO:0018024)|metal ion binding (GO:0046872)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II intronic transcription regulatory region sequence-specific DNA binding (GO:0001162)			breast(3)|large_intestine(5)|lung(8)|skin(1)	17	all_cancers(71;0.000291)|all_epithelial(71;0.000174)|Ovarian(71;0.0377)|all_lung(81;0.0568)|Lung NSC(105;0.0804)|Breast(184;0.173)|Melanoma(84;0.242)	all_cancers(173;0.0496)|Acute lymphoblastic leukemia(190;0.164)	OV - Ovarian serous cystadenocarcinoma(106;0.0129)	all cancers(4;0.028)|GBM - Glioblastoma multiforme(49;0.0537)		GGTCGCAGACGACGCCACGAC	0.721																																																	0													32.0	43.0	39.0					1																	246670379		692	1591	2283	SO:0001819	synonymous_variant	64754			AK023594	CCDS31083.1	1q44	2011-07-01	2003-05-14	2003-05-16	ENSG00000185420	ENSG00000185420		"""Zinc fingers, MYND-type"", ""Chromatin-modifying enzymes / K-methyltransferases"""	15513	protein-coding gene	gene with protein product		608783	"""zinc finger, MYND domain containing 1"""	ZNFN3A1, ZMYND1			Standard	NM_022743		Approved	KMT3E	uc001ibl.3	Q9H7B4	OTTHUMG00000040508	ENST00000388985.4:c.141C>T	1.37:g.246670379G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	A8K0P0|B1AN38|Q86TL8|Q8N5Z6|Q96AI5	Silent	SNP	pfam_SET_dom,pfam_Znf_MYND,smart_SET_dom,pfscan_SET_dom,pfscan_Znf_MYND	p.V47	ENST00000388985.4	37	c.141	CCDS53486.1	1																																																																																			SMYD3	-	pfam_SET_dom,smart_SET_dom		0.721	SMYD3-201	KNOWN	basic|appris_principal|CCDS	protein_coding	SMYD3	HGNC	protein_coding		G	NM_022743		246670379	-1	no_errors	ENST00000388985	ensembl	human	known	70_37	silent	SNP	0.624	A
SNAPC4	6621	genome.wustl.edu	37	9	139276738	139276738	+	Silent	SNP	G	G	C			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr9:139276738G>C	ENST00000298532.2	-	16	2402	c.2034C>G	c.(2032-2034)ctC>ctG	p.L678L		NM_003086.2	NP_003077.2			small nuclear RNA activating complex, polypeptide 4, 190kDa											biliary_tract(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	33		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.31e-06)|Epithelial(140;7.13e-06)		TGTTGGCCCTGAGCACCCTCA	0.662																																																	0													74.0	62.0	66.0					9																	139276738		2203	4300	6503	SO:0001819	synonymous_variant	6621			AF032387	CCDS6998.1	9q34.3	2008-07-21	2002-08-29		ENSG00000165684	ENSG00000165684			11137	protein-coding gene	gene with protein product		602777	"""small nuclear RNA activating complex, polypeptide 4, 190kD"""			9418884	Standard	XM_005266096		Approved	SNAP190, PTFalpha, FLJ13451	uc004chh.3	Q5SXM2	OTTHUMG00000020929	ENST00000298532.2:c.2034C>G	9.37:g.139276738G>C		Somatic		WXS	Illumina HiSeq	Phase_IV		Silent	SNP	pfam_SANT/Myb,superfamily_Homeodomain-like,smart_SANT/Myb,pfscan_Myb-like_dom	p.L678	ENST00000298532.2	37	c.2034	CCDS6998.1	9																																																																																			SNAPC4	-	NULL		0.662	SNAPC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNAPC4	HGNC	protein_coding	OTTHUMT00000055071.1	G	NM_003086		139276738	-1	no_errors	ENST00000298532	ensembl	human	known	70_37	silent	SNP	0.002	C
SND1	27044	genome.wustl.edu	37	7	127732189	127732189	+	3'UTR	SNP	A	A	C			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr7:127732189A>C	ENST00000354725.3	+	0	3006					NM_014390.2	NP_055205.2	Q7KZF4	SND1_HUMAN	staphylococcal nuclease and tudor domain containing 1						gene silencing by RNA (GO:0031047)|osteoblast differentiation (GO:0001649)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|dense body (GO:0097433)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|RISC complex (GO:0016442)	nuclease activity (GO:0004518)|poly(A) RNA binding (GO:0044822)|transcription cofactor activity (GO:0003712)			central_nervous_system(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(15)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	41						TCAACTCCAAACCCCAGAGAG	0.612																																																	0																																										SO:0001624	3_prime_UTR_variant	27044				CCDS34747.1	7q31.3	2014-03-24			ENSG00000197157	ENSG00000197157		"""Tudor domain containing"""	30646	protein-coding gene	gene with protein product	"""p100 EBNA2 co-activator"", ""Tudor-SN"""	602181				7651391, 9003410, 12819296	Standard	NM_014390		Approved	TDRD11, p100	uc003vmi.3	Q7KZF4	OTTHUMG00000157560	ENST00000354725.3:c.*79A>C	7.37:g.127732189A>C		Somatic		WXS	Illumina HiSeq	Phase_IV	Q13122|Q96AG0	RNA	SNP	-	NULL	ENST00000354725.3	37	NULL	CCDS34747.1	7																																																																																			SND1	-	-		0.612	SND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SND1	HGNC	protein_coding	OTTHUMT00000349148.1	A	NM_014390		127732189	+1	no_errors	ENST00000485871	ensembl	human	known	70_37	rna	SNP	0.842	C
RPL27A	6157	genome.wustl.edu	37	11	8707103	8707103	+	Intron	SNP	G	G	T			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr11:8707103G>T	ENST00000314138.6	+	5	721				SNORA3_ENST00000364113.1_RNA|RPL27A_ENST00000530022.1_Intron|SNORA45_ENST00000391305.1_RNA|RPL27A_ENST00000530913.1_Intron|RPL27A_ENST00000524496.1_Intron|RPL27A_ENST00000526562.1_Intron|RPL27A_ENST00000532359.1_Intron	NM_000990.4	NP_000981.1	P46776	RL27A_HUMAN	ribosomal protein L27a						cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|structural constituent of ribosome (GO:0003735)			haematopoietic_and_lymphoid_tissue(1)|lung(1)	2				Epithelial(150;3.24e-07)|BRCA - Breast invasive adenocarcinoma(625;0.189)		TTAGTGCCCAGATCAGAAACA	0.498																																																	0													126.0	118.0	120.0					11																	8707103		874	1987	2861	SO:0001627	intron_variant	677826			U14968	CCDS7790.1	11p15	2011-04-06				ENSG00000166441		"""L ribosomal proteins"""	10329	protein-coding gene	gene with protein product		603637				7772601, 9582194	Standard	NM_000990		Approved	L27A	uc001mgs.4	P46776		ENST00000314138.6:c.319-122G>T	11.37:g.8707103G>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B2R4B3	RNA	SNP	-	NULL	ENST00000314138.6	37	NULL	CCDS7790.1	11																																																																																			SNORA45	-	-		0.498	RPL27A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNORA45	HGNC	protein_coding	OTTHUMT00000386506.1	G	NM_000990		8707103	+1	no_errors	ENST00000391305	ensembl	human	known	70_37	rna	SNP	0.999	T
SNX12	29934	genome.wustl.edu	37	X	70280810	70280810	+	3'UTR	SNP	G	G	A			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chrX:70280810G>A	ENST00000374274.3	-	0	661				SNX12_ENST00000276105.3_3'UTR|SNX12_ENST00000465030.1_5'UTR	NM_001256185.1|NM_001256188.1|NM_013346.3	NP_001243114.1|NP_001243117.1|NP_037478.2	Q9UMY4	SNX12_HUMAN	sorting nexin 12						intracellular protein transport (GO:0006886)|negative regulation of early endosome to late endosome transport (GO:2000642)|negative regulation of gene expression (GO:0010629)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of protein processing (GO:0010955)|negative regulation of protein transport (GO:0051224)|regulation of endocytosis (GO:0030100)	early endosome (GO:0005769)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	enzyme binding (GO:0019899)|phosphatidylinositol binding (GO:0035091)			endometrium(1)|large_intestine(2)|lung(3)|ovary(1)|prostate(1)	8	Renal(35;0.156)					GAGGCTTAGTGTAAAAACCAA	0.532																																																	0																																										SO:0001624	3_prime_UTR_variant	29934			AF171229	CCDS14405.1, CCDS59169.1	Xq13.1	2008-03-11			ENSG00000147164	ENSG00000147164		"""Sorting nexins"""	14976	protein-coding gene	gene with protein product		300883					Standard	NM_013346		Approved		uc004dyr.2	Q9UMY4	OTTHUMG00000021786	ENST00000374274.3:c.*56C>T	X.37:g.70280810G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	F8W8K5|Q8WUG9	RNA	SNP	-	NULL	ENST00000374274.3	37	NULL	CCDS14405.1	X																																																																																			SNX12	-	-		0.532	SNX12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SNX12	HGNC	protein_coding	OTTHUMT00000057094.1	G	NM_013346		70280810	-1	no_errors	ENST00000465030	ensembl	human	known	70_37	rna	SNP	1.000	A
SNX20	124460	genome.wustl.edu	37	16	50707340	50707340	+	Missense_Mutation	SNP	T	T	A			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr16:50707340T>A	ENST00000330943.4	-	4	1099	c.928A>T	c.(928-930)Act>Tct	p.T310S	SNX20_ENST00000300590.3_Intron|RP11-401P9.5_ENST00000570241.2_RNA|RP11-401P9.5_ENST00000570167.1_RNA|SNX20_ENST00000423026.2_Intron	NM_182854.2	NP_878274.1	Q7Z614	SNX20_HUMAN	sorting nexin 20	310					protein transport (GO:0015031)	endosome (GO:0005768)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	phosphatidylinositol binding (GO:0035091)			kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|skin(2)|stomach(1)	15						TCTCGCACAGTGAGCTCCTTC	0.637																																																	0													54.0	59.0	58.0					16																	50707340		2198	4300	6498	SO:0001583	missense	124460			AK055837	CCDS10745.1, CCDS10744.1, CCDS45481.1	16q12.1	2008-03-25	2008-03-25		ENSG00000167208	ENSG00000167208		"""Sorting nexins"""	30390	protein-coding gene	gene with protein product	"""selectin ligand interactor cytoplasmic 1"""	613281				18196517, 16782399	Standard	NM_182854		Approved	SLIC-1, SLIC1	uc002egk.2	Q7Z614	OTTHUMG00000133173	ENST00000330943.4:c.928A>T	16.37:g.50707340T>A	ENSP00000332062:p.Thr310Ser	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K9D5|Q08E98|Q6P4H2|Q8IV59	Missense_Mutation	SNP	pfam_Phox,superfamily_Phox,smart_Phox,pfscan_Phox	p.T310S	ENST00000330943.4	37	c.928	CCDS10745.1	16	.	.	.	.	.	.	.	.	.	.	T	11.96	1.795774	0.31777	.	.	ENSG00000167208	ENST00000330943;ENST00000413750	T	0.30981	1.51	5.67	-0.721	0.11189	.	0.420327	0.26955	N	0.021646	T	0.28962	0.0719	M	0.65975	2.015	0.09310	N	1	B	0.27229	0.172	B	0.25140	0.058	T	0.27606	-1.0069	10	0.49607	T	0.09	-11.3454	11.4695	0.50259	0.0:0.5429:0.0:0.4571	.	310	Q7Z614	SNX20_HUMAN	S	310;146	ENSP00000332062:T310S	ENSP00000332062:T310S	T	-	1	0	SNX20	49264841	0.745000	0.28261	0.026000	0.17262	0.007000	0.05969	0.414000	0.21164	-0.126000	0.11682	-0.366000	0.07423	ACT	SNX20	-	NULL		0.637	SNX20-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SNX20	HGNC	protein_coding	OTTHUMT00000256879.2	T	NM_153337		50707340	-1	no_errors	ENST00000330943	ensembl	human	known	70_37	missense	SNP	0.047	A
SNX32	254122	genome.wustl.edu	37	11	65617642	65617642	+	Missense_Mutation	SNP	C	C	A			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr11:65617642C>A	ENST00000308342.6	+	4	699	c.274C>A	c.(274-276)Cca>Aca	p.P92T		NM_152760.2	NP_689973.2	Q86XE0	SNX32_HUMAN	sorting nexin 32	92	PX. {ECO:0000255|PROSITE- ProRule:PRU00147}.				intracellular protein transport (GO:0006886)	endosome (GO:0005768)	phosphatidylinositol binding (GO:0035091)			endometrium(3)|kidney(1)|large_intestine(4)|lung(8)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				READ - Rectum adenocarcinoma(159;0.171)		CCCTCCGAGGCCAGACTTTGA	0.602																																																	0													57.0	62.0	61.0					11																	65617642		2201	4297	6498	SO:0001583	missense	254122			AK055496	CCDS8113.2	11q13.1	2008-03-11	2008-03-11	2008-03-11	ENSG00000172803	ENSG00000172803		"""Sorting nexins"""	26423	protein-coding gene	gene with protein product			"""sorting nexin 6B"""	SNX6B		16782399	Standard	XM_005273871		Approved	FLJ30934	uc001ofr.3	Q86XE0	OTTHUMG00000128491	ENST00000308342.6:c.274C>A	11.37:g.65617642C>A	ENSP00000310620:p.Pro92Thr	Somatic		WXS	Illumina HiSeq	Phase_IV	Q8IW53|Q96NG4	Missense_Mutation	SNP	pfam_Vps5_C,pfam_Phox,superfamily_Phox,pirsf_Snx5_Snx6,pfscan_Phox	p.P92T	ENST00000308342.6	37	c.274	CCDS8113.2	11	.	.	.	.	.	.	.	.	.	.	C	16.15	3.042150	0.55003	.	.	ENSG00000172803	ENST00000308342	T	0.39056	1.1	4.68	2.79	0.32731	Phox homologous domain (4);	0.263109	0.27811	N	0.017760	T	0.54481	0.1861	M	0.81341	2.54	0.42524	D	0.993012	P	0.50272	0.933	P	0.53954	0.738	T	0.57039	-0.7879	10	0.87932	D	0	-24.9884	7.9547	0.30035	0.0:0.7467:0.1624:0.0908	.	92	Q86XE0	SNX32_HUMAN	T	92	ENSP00000310620:P92T	ENSP00000310620:P92T	P	+	1	0	SNX32	65374218	1.000000	0.71417	0.756000	0.31282	0.970000	0.65996	3.461000	0.53035	0.572000	0.29383	0.561000	0.74099	CCA	SNX32	-	pfam_Phox,superfamily_Phox,pirsf_Snx5_Snx6,pfscan_Phox		0.602	SNX32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNX32	HGNC	protein_coding	OTTHUMT00000250295.3	C	NM_152760		65617642	+1	no_errors	ENST00000308342	ensembl	human	known	70_37	missense	SNP	1.000	A
SOBP	55084	genome.wustl.edu	37	6	107956596	107956596	+	Missense_Mutation	SNP	C	C	T			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr6:107956596C>T	ENST00000317357.5	+	6	3207	c.2548C>T	c.(2548-2550)Ctc>Ttc	p.L850F	SOBP_ENST00000494935.1_3'UTR	NM_018013.3	NP_060483.3			sine oculis binding protein homolog (Drosophila)											endometrium(1)|kidney(2)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	26		all_cancers(87;5.26e-06)|Acute lymphoblastic leukemia(125;2.87e-08)|all_hematologic(75;1.14e-06)|all_epithelial(87;0.00193)|Colorectal(196;0.156)		BRCA - Breast invasive adenocarcinoma(108;0.026)|all cancers(137;0.087)|Epithelial(106;0.104)|OV - Ovarian serous cystadenocarcinoma(136;0.154)		CTCGCCCATGCTCAGCGCCGG	0.607																																																	0													48.0	60.0	56.0					6																	107956596		2060	4192	6252	SO:0001583	missense	55084			AK001021	CCDS43488.1	6q21	2007-03-15			ENSG00000112320	ENSG00000112320			29256	protein-coding gene	gene with protein product		613667					Standard	NM_018013		Approved	FLJ10159	uc003prx.3	A7XYQ1	OTTHUMG00000015312	ENST00000317357.5:c.2548C>T	6.37:g.107956596C>T	ENSP00000318900:p.Leu850Phe	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	NULL	p.L850F	ENST00000317357.5	37	c.2548	CCDS43488.1	6	.	.	.	.	.	.	.	.	.	.	C	17.08	3.297675	0.60086	.	.	ENSG00000112320	ENST00000317357;ENST00000230065	T	0.34072	1.38	4.94	4.94	0.65067	.	0.761386	0.10611	U	0.654478	T	0.37073	0.0990	N	0.19112	0.55	0.32905	D	0.513737	D	0.64830	0.994	D	0.72075	0.976	T	0.40961	-0.9535	10	0.48119	T	0.1	-4.7893	18.1441	0.89649	0.0:1.0:0.0:0.0	.	850	A7XYQ1	SOBP_HUMAN	F	850;245	ENSP00000318900:L850F	ENSP00000230065:L245F	L	+	1	0	SOBP	108063289	0.998000	0.40836	1.000000	0.80357	0.958000	0.62258	1.984000	0.40658	2.259000	0.74868	0.563000	0.77884	CTC	SOBP	-	NULL		0.607	SOBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SOBP	HGNC	protein_coding	OTTHUMT00000041693.2	C	NM_018013		107956596	+1	no_errors	ENST00000317357	ensembl	human	known	70_37	missense	SNP	1.000	T
SORT1	6272	genome.wustl.edu	37	1	109883466	109883466	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr1:109883466G>A	ENST00000256637.6	-	10	1202	c.1144C>T	c.(1144-1146)Cga>Tga	p.R382*	SORT1_ENST00000538502.1_Nonsense_Mutation_p.R245*	NM_002959.5	NP_002950.3	Q99523	SORT_HUMAN	sortilin 1	382					endocytosis (GO:0006897)|endosome to lysosome transport (GO:0008333)|endosome transport via multivesicular body sorting pathway (GO:0032509)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose import (GO:0046323)|Golgi to endosome transport (GO:0006895)|multicellular organismal development (GO:0007275)|myotube differentiation (GO:0014902)|negative regulation of lipoprotein lipase activity (GO:0051005)|nerve growth factor signaling pathway (GO:0038180)|neuropeptide signaling pathway (GO:0007218)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification (GO:0001503)|plasma membrane to endosome transport (GO:0048227)|regulation of gene expression (GO:0010468)|response to insulin (GO:0032868)|vesicle organization (GO:0016050)	cell surface (GO:0009986)|clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|cytoplasmic membrane-bounded vesicle (GO:0016023)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|trans-Golgi network transport vesicle (GO:0030140)	enzyme binding (GO:0019899)|nerve growth factor binding (GO:0048406)|nerve growth factor receptor activity (GO:0010465)|neurotensin receptor activity, non-G-protein coupled (GO:0030379)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(9)|lung(5)|ovary(2)|prostate(1)|skin(1)	26		all_epithelial(167;4.69e-05)|all_lung(203;0.00016)|Lung NSC(277;0.000318)|Breast(1374;0.244)		Lung(183;0.0529)|Colorectal(144;0.142)|Epithelial(280;0.145)|Kidney(133;0.169)|all cancers(265;0.184)		ACAATGCCTCGATCATCTGAG	0.458																																																	0													141.0	116.0	124.0					1																	109883466		2203	4300	6503	SO:0001587	stop_gained	6272			BC023542	CCDS798.1, CCDS55618.1	1p13.3	2008-05-14			ENSG00000134243	ENSG00000134243			11186	protein-coding gene	gene with protein product		602458					Standard	NM_002959		Approved	Gp95, NT3	uc001dxm.2	Q99523	OTTHUMG00000011999	ENST00000256637.6:c.1144C>T	1.37:g.109883466G>A	ENSP00000256637:p.Arg382*	Somatic		WXS	Illumina HiSeq	Phase_IV	B4DWI3|C0JYZ0|Q8IZ49	Nonsense_Mutation	SNP	pfam_BNR_rpt,smart_VPS10	p.R382*	ENST00000256637.6	37	c.1144	CCDS798.1	1	.	.	.	.	.	.	.	.	.	.	g	41	8.708148	0.98922	.	.	ENSG00000134243	ENST00000256637;ENST00000538502	.	.	.	5.69	5.69	0.88448	.	0.065301	0.64402	D	0.000007	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.3923	18.5756	0.91154	0.0:0.0:1.0:0.0	.	.	.	.	X	382;245	.	ENSP00000256637:R382X	R	-	1	2	SORT1	109684989	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.369000	0.66138	2.687000	0.91594	0.651000	0.88453	CGA	SORT1	-	smart_VPS10		0.458	SORT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SORT1	HGNC	protein_coding	OTTHUMT00000033179.1	G	NM_002959		109883466	-1	no_errors	ENST00000256637	ensembl	human	known	70_37	nonsense	SNP	1.000	A
SOX2	6657	genome.wustl.edu	37	3	181430346	181430346	+	Missense_Mutation	SNP	G	G	A			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr3:181430346G>A	ENST00000325404.1	+	1	625	c.198G>A	c.(196-198)atG>atA	p.M66I	SOX2_ENST00000431565.2_Missense_Mutation_p.M66I	NM_003106.3	NP_003097.1	P48431	SOX2_HUMAN	SRY (sex determining region Y)-box 2	66					adenohypophysis development (GO:0021984)|cell cycle arrest (GO:0007050)|cerebral cortex development (GO:0021987)|chromatin organization (GO:0006325)|detection of mechanical stimulus involved in equilibrioception (GO:0050973)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|diencephalon morphogenesis (GO:0048852)|endodermal cell fate specification (GO:0001714)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|eye development (GO:0001654)|forebrain development (GO:0030900)|forebrain neuron differentiation (GO:0021879)|glial cell fate commitment (GO:0021781)|inner ear development (GO:0048839)|inner ear morphogenesis (GO:0042472)|lens induction in camera-type eye (GO:0060235)|lung alveolus development (GO:0048286)|male genitalia development (GO:0030539)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron fate commitment (GO:0048663)|neuronal stem cell maintenance (GO:0097150)|olfactory placode formation (GO:0030910)|osteoblast differentiation (GO:0001649)|pigment biosynthetic process (GO:0046148)|pituitary gland development (GO:0021983)|positive regulation of epithelial cell differentiation (GO:0030858)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of gene expression (GO:0010468)|regulation of transcription, DNA-templated (GO:0006355)|response to growth factor (GO:0070848)|response to retinoic acid (GO:0032526)|response to wounding (GO:0009611)|retina morphogenesis in camera-type eye (GO:0060042)|somatic stem cell maintenance (GO:0035019)|tongue development (GO:0043586)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear transcription factor complex (GO:0044798)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|miRNA binding (GO:0035198)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(1)|skin(1)	10	all_cancers(143;1.22e-16)|Ovarian(172;0.0283)		all cancers(12;1.82e-48)|Epithelial(37;9.85e-40)|OV - Ovarian serous cystadenocarcinoma(80;7.37e-23)|Lung(8;2.01e-21)|GBM - Glioblastoma multiforme(1;2.13e-08)			ACCCCAAGATGCACAACTCGG	0.632			A		"""NSCLC, oesophageal squamous carcinoma"""		MICROPHTHALMIA AND ESOPHAGEAL ATRESIA SYNDROME																																	Dom	yes		3	3q26.3-q27	6657	SRY (sex determining region Y)-box 2	yes	E	0													46.0	48.0	47.0					3																	181430346		2203	4300	6503	SO:0001583	missense	6657			BC013923	CCDS3239.1	3q26.3-q27	2014-09-17						"""SRY (sex determining region Y)-boxes"""	11195	protein-coding gene	gene with protein product		184429				7849401	Standard	NM_003106		Approved		uc003fkx.3	P48431		ENST00000325404.1:c.198G>A	3.37:g.181430346G>A	ENSP00000323588:p.Met66Ile	Somatic		WXS	Illumina HiSeq	Phase_IV	Q14537	Missense_Mutation	SNP	pfam_TF_SOX,pfam_HMG_superfamily,superfamily_HMG_superfamily,smart_HMG_superfamily,pfscan_HMG_superfamily	p.M66I	ENST00000325404.1	37	c.198	CCDS3239.1	3	.	.	.	.	.	.	.	.	.	.	G	19.35	3.811292	0.70797	.	.	ENSG00000181449	ENST00000431565;ENST00000325404	D;D	0.97710	-4.5;-4.5	4.73	4.73	0.59995	High mobility group, superfamily (1);High mobility group, HMG1/HMG2 (4);	0.134389	0.64402	D	0.000004	D	0.97025	0.9028	L	0.58810	1.83	0.80722	D	1	P	0.52692	0.955	P	0.47299	0.543	D	0.97802	1.0245	10	0.87932	D	0	.	17.0661	0.86559	0.0:0.0:1.0:0.0	.	66	P48431	SOX2_HUMAN	I	66	ENSP00000439111:M66I;ENSP00000323588:M66I	ENSP00000323588:M66I	M	+	3	0	SOX2	182913040	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	9.681000	0.98653	2.336000	0.79503	0.561000	0.74099	ATG	SOX2	-	pfam_HMG_superfamily,superfamily_HMG_superfamily,smart_HMG_superfamily,pfscan_HMG_superfamily		0.632	SOX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SOX2	HGNC	protein_coding	OTTHUMT00000350419.1	G	NM_003106		181430346	+1	no_errors	ENST00000325404	ensembl	human	known	70_37	missense	SNP	1.000	A
SPAM1	6677	genome.wustl.edu	37	7	123594460	123594460	+	Missense_Mutation	SNP	G	G	A	rs532636427		TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr7:123594460G>A	ENST00000439500.1	+	4	1449	c.836G>A	c.(835-837)cGc>cAc	p.R279H	SPAM1_ENST00000340011.5_Missense_Mutation_p.R279H|SPAM1_ENST00000460182.1_Missense_Mutation_p.R279H|SPAM1_ENST00000402183.2_Missense_Mutation_p.R279H|SPAM1_ENST00000223028.7_Missense_Mutation_p.R279H	NM_001174045.1|NM_001174046.1	NP_001167516.1|NP_001167517.1	P38567	HYALP_HUMAN	sperm adhesion molecule 1 (PH-20 hyaluronidase, zona pellucida binding)	279					binding of sperm to zona pellucida (GO:0007339)|carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|fusion of sperm to egg plasma membrane (GO:0007342)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)|sperm-egg recognition (GO:0035036)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)	hyalurononglucosaminidase activity (GO:0004415)			breast(1)|cervix(1)|endometrium(3)|kidney(5)|large_intestine(5)|lung(23)|ovary(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	46						CTCTATGTGCGCAATCGAGTT	0.428																																																	0													97.0	90.0	92.0					7																	123594460		2203	4299	6502	SO:0001583	missense	6677			L13781	CCDS5790.1, CCDS5791.1	7q31	2008-05-02			ENSG00000106304	ENSG00000106304			11217	protein-coding gene	gene with protein product		600930				8282124, 8575780	Standard	NM_153189		Approved	HYAL5, PH-20, SPAG15	uc003vle.3	P38567	OTTHUMG00000157284	ENST00000439500.1:c.836G>A	7.37:g.123594460G>A	ENSP00000402123:p.Arg279His	Somatic		WXS	Illumina HiSeq	Phase_IV	Q8TC30	Missense_Mutation	SNP	pfam_Hyaluronidase,superfamily_Glycoside_hydrolase_SF,pirsf_Hyaluronidase,prints_Glyco_hydro_56_PH20,prints_Hyaluronidase	p.R279H	ENST00000439500.1	37	c.836	CCDS5791.1	7	.	.	.	.	.	.	.	.	.	.	G	34	5.362372	0.95877	.	.	ENSG00000106304	ENST00000402183;ENST00000460182;ENST00000340011;ENST00000439500;ENST00000223028	T;T;T;T;T	0.26223	1.75;1.75;1.75;1.75;1.75	6.17	6.17	0.99709	Aldolase-type TIM barrel (1);Glycoside hydrolase, superfamily (1);	0.000000	0.85682	D	0.000000	T	0.53465	0.1798	M	0.72624	2.21	0.58432	D	0.999998	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.39941	-0.9589	9	.	.	.	-31.722	19.8676	0.96824	0.0:0.0:1.0:0.0	.	279;279	Q8TC30;P38567	.;HYALP_HUMAN	H	279	ENSP00000386028:R279H;ENSP00000417934:R279H;ENSP00000345849:R279H;ENSP00000402123:R279H;ENSP00000223028:R279H	.	R	+	2	0	SPAM1	123381696	1.000000	0.71417	0.021000	0.16686	0.356000	0.29392	7.998000	0.88491	2.941000	0.99782	0.655000	0.94253	CGC	SPAM1	-	pfam_Hyaluronidase,superfamily_Glycoside_hydrolase_SF,pirsf_Hyaluronidase		0.428	SPAM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	SPAM1	HGNC	protein_coding	OTTHUMT00000348309.1	G			123594460	+1	no_errors	ENST00000340011	ensembl	human	known	70_37	missense	SNP	0.991	A
SPATA13	221178	genome.wustl.edu	37	13	24798688	24798688	+	Intron	SNP	G	G	A			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr13:24798688G>A	ENST00000382095.4	+	2	185				SPATA13_ENST00000382108.3_Missense_Mutation_p.A541T|SPATA13_ENST00000474317.1_3'UTR|SPATA13_ENST00000424834.2_Missense_Mutation_p.A541T|RP11-307N16.6_ENST00000382141.4_Missense_Mutation_p.A541T	NM_153023.2	NP_694568.1	Q96N96	SPT13_HUMAN	spermatogenesis associated 13						cell migration (GO:0016477)|filopodium assembly (GO:0046847)|lamellipodium assembly (GO:0030032)|positive regulation of GTPase activity (GO:0043547)|positive regulation of Rac GTPase activity (GO:0032855)|regulation of cell migration (GO:0030334)	cytoplasm (GO:0005737)|filopodium (GO:0030175)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|ruffle membrane (GO:0032587)	guanyl-nucleotide exchange factor activity (GO:0005085)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)			breast(4)|endometrium(2)|large_intestine(9)|lung(4)|ovary(1)|prostate(1)|skin(2)	23		all_cancers(29;4.05e-15)|all_lung(29;2.77e-14)|all_epithelial(30;7.77e-13)|Lung SC(185;0.0279)		all cancers(112;0.00616)|Epithelial(112;0.0195)|OV - Ovarian serous cystadenocarcinoma(117;0.0705)|Lung(94;0.231)		CATTGGTGTGGCAGCCGGCCC	0.617																																																	0													23.0	29.0	27.0					13																	24798688		692	1591	2283	SO:0001627	intron_variant	221178			AK055770	CCDS9305.1, CCDS53857.1, CCDS66517.1, CCDS66518.1, CCDS73553.1	13q12.13	2013-01-10			ENSG00000182957	ENSG00000182957		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"""	23222	protein-coding gene	gene with protein product		613324					Standard	NM_001286795		Approved	FLJ31208, ARHGEF29	uc021rhg.1	Q96N96	OTTHUMG00000016578	ENST00000382095.4:c.-222-24927G>A	13.37:g.24798688G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	A2VEA9|A6NF85|B4DQB1|B4DSZ0|B4DVM8|J3KPJ7|J3KQH2|Q5VX68|Q6ZML1|Q8N873|Q8TEK6	Missense_Mutation	SNP	pfam_DH-domain,pfam_SH3_domain,pfam_SH3_2,pfam_Pleckstrin_homology,superfamily_DH-domain,superfamily_SH3_domain,smart_SH3_domain,smart_DH-domain,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain	p.A541T	ENST00000382095.4	37	c.1621	CCDS9305.1	13	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.06|15.06	2.720324|2.720324	0.48728|0.48728	.|.	.|.	ENSG00000182957|ENSG00000182957	ENST00000382108|ENST00000424834	T|.	0.81247|.	-1.47|.	5.02|5.02	1.34|1.34	0.21922|0.21922	.|.	0.000000|.	0.37393|.	U|.	0.002113|.	T|T	0.33498|0.33498	0.0865|0.0865	L|L	0.34521|0.34521	1.04|1.04	0.19945|0.19945	N|N	0.999942|0.999942	.|.	.|.	.|.	.|.	.|.	.|.	T|T	0.24225|0.24225	-1.0166|-1.0166	8|5	0.48119|.	T|.	0.1|.	.|.	9.0773|9.0773	0.36529|0.36529	0.2955:0.0:0.7045:0.0|0.2955:0.0:0.7045:0.0	.|.	.|.	.|.	.|.	T|D	541|578	ENSP00000371542:A541T|.	ENSP00000371542:A541T|.	A|G	+|+	1|2	0|0	SPATA13|SPATA13	23696688|23696688	0.005000|0.005000	0.15991|0.15991	0.000000|0.000000	0.03702|0.03702	0.001000|0.001000	0.01503|0.01503	0.507000|0.507000	0.22675|0.22675	-0.056000|-0.056000	0.13221|0.13221	0.585000|0.585000	0.79938|0.79938	GCA|GGC	SPATA13	-	NULL		0.617	SPATA13-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	SPATA13	HGNC	protein_coding	OTTHUMT00000044180.2	G	NM_153023		24798688	+1	no_errors	ENST00000382108	ensembl	human	known	70_37	missense	SNP	0.008	A
SPATA31D5P	347127	genome.wustl.edu	37	9	84532636	84532636	+	RNA	SNP	A	A	C			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr9:84532636A>C	ENST00000527857.1	+	0	2658					NR_026851.1				SPATA31 subfamily D, member 5, pseudogene																		AGCCAAATTAAACATCAAAAT	0.443																																																	0																																												347127					9q21.32	2012-10-12	2012-10-12	2012-10-12	ENSG00000240632	ENSG00000240632			38602	pseudogene	pseudogene			"""family with sequence similarity 75, member D5"", ""family with sequence similarity 75, member D5, pseudogene"""	FAM75D5			Standard	NR_026851		Approved	FLJ43950, FAM75D5P	uc011lst.2		OTTHUMG00000020087		9.37:g.84532636A>C		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000527857.1	37	NULL		9																																																																																			SPATA31D5P	-	-		0.443	SPATA31D5P-002	KNOWN	basic	processed_transcript	SPATA31D5P	HGNC	pseudogene	OTTHUMT00000052810.2	A	NR_026851		84532636	+1	no_errors	ENST00000527857	ensembl	human	known	70_37	rna	SNP	0.005	C
SPATA5	166378	genome.wustl.edu	37	4	123844350	123844350	+	Missense_Mutation	SNP	C	C	T			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr4:123844350C>T	ENST00000274008.4	+	1	122	c.53C>T	c.(52-54)tCg>tTg	p.S18L	SPATA5_ENST00000422835.2_3'UTR|NUDT6_ENST00000304430.5_5'Flank|NUDT6_ENST00000339154.2_5'Flank	NM_145207.2	NP_660208.2	Q8NB90	SPAT5_HUMAN	spermatogenesis associated 5	18					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)			endometrium(2)|kidney(2)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	24						GAAAATGGTTCGTCCTTGCCC	0.542																																																	0													121.0	124.0	123.0					4																	123844350		2203	4300	6503	SO:0001583	missense	166378			AF361489	CCDS3730.1	4q28.1	2010-04-21			ENSG00000145375	ENSG00000145375		"""ATPases / AAA-type"""	18119	protein-coding gene	gene with protein product	"""ATPase family gene 2 homolog (S. cerevisiae)"""	613940				16465403	Standard	NM_145207		Approved	SPAF, AFG2	uc003iez.4	Q8NB90	OTTHUMG00000133074	ENST00000274008.4:c.53C>T	4.37:g.123844350C>T	ENSP00000274008:p.Ser18Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	C9JT97|Q86XW1|Q8NI20|Q8TDL7	Missense_Mutation	SNP	pfam_ATPase_AAA_core,pfam_DNA_helicase_Holl-junc_RuvB_N,superfamily_Asp_de-COase-like_fold,smart_AAA+_ATPase	p.S18L	ENST00000274008.4	37	c.53	CCDS3730.1	4	.	.	.	.	.	.	.	.	.	.	C	14.67	2.606035	0.46527	.	.	ENSG00000145375	ENST00000274008	D	0.94576	-3.46	3.97	3.97	0.46021	.	0.726470	0.12715	N	0.445188	D	0.89708	0.6793	L	0.47716	1.5	0.09310	N	0.999996	P;B	0.43662	0.814;0.014	B;B	0.29524	0.103;0.004	D	0.84507	0.0620	10	0.59425	D	0.04	.	11.76	0.51896	0.0:1.0:0.0:0.0	.	18;18	Q8NB90;Q8NB90-3	SPAT5_HUMAN;.	L	18	ENSP00000274008:S18L	ENSP00000274008:S18L	S	+	2	0	SPATA5	124063800	0.213000	0.23551	0.096000	0.21009	0.205000	0.24178	0.913000	0.28611	2.211000	0.71520	0.561000	0.74099	TCG	SPATA5	-	NULL		0.542	SPATA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPATA5	HGNC	protein_coding	OTTHUMT00000256714.2	C	NM_145207		123844350	+1	no_errors	ENST00000274008	ensembl	human	known	70_37	missense	SNP	0.142	T
SPDYA	245711	genome.wustl.edu	37	2	29052078	29052078	+	Silent	SNP	T	T	C			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr2:29052078T>C	ENST00000334056.5	+	6	634	c.445T>C	c.(445-447)Tta>Cta	p.L149L	SPDYA_ENST00000462832.1_3'UTR|SPDYA_ENST00000379579.4_Silent_p.L149L	NM_182756.3	NP_877433.2			speedy/RINGO cell cycle regulator family member A											cervix(1)|endometrium(1)|large_intestine(2)|lung(1)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	9	Acute lymphoblastic leukemia(172;0.155)					TCCATGGGCTTTAGGGAAAAA	0.383																																																	0													76.0	80.0	79.0					2																	29052078		2203	4299	6502	SO:0001819	synonymous_variant	245711			AA424209	CCDS1767.2	2p23	2013-05-08	2013-05-08	2006-03-31	ENSG00000163806	ENSG00000163806		"""Speedy homologs"""	30613	protein-coding gene	gene with protein product		614029	"""speedy homolog 1 (Drosophila)"", ""speedy homolog A (Xenopus laevis)"""	SPDY1		11980914, 12839962, 15611625	Standard	NM_182756		Approved	SPY1, Ringo3	uc002rmk.3	Q5MJ70	OTTHUMG00000074041	ENST00000334056.5:c.445T>C	2.37:g.29052078T>C		Somatic		WXS	Illumina HiSeq	Phase_IV		Silent	SNP	pfam_Cell_cycle_regulatory_Spy1	p.L149	ENST00000334056.5	37	c.445	CCDS1767.2	2																																																																																			SPDYA	-	pfam_Cell_cycle_regulatory_Spy1		0.383	SPDYA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SPDYA	HGNC	protein_coding	OTTHUMT00000157171.1	T	NM_182756		29052078	+1	no_errors	ENST00000334056	ensembl	human	known	70_37	silent	SNP	0.994	C
SPDYE2	441273	genome.wustl.edu	37	7	102194904	102194904	+	Missense_Mutation	SNP	G	G	A			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr7:102194904G>A	ENST00000507918.1	+	3	733	c.259G>A	c.(259-261)Gcc>Acc	p.A87T	SPDYE2_ENST00000432940.1_5'UTR|SPDYE2_ENST00000341656.4_5'Flank|RP11-514P8.7_ENST00000514917.2_Intron	NM_001031618.3	NP_001026789.2	Q495Y8	SPDE2_HUMAN	speedy/RINGO cell cycle regulator family member E2	87																	GAAGGAGCTCGCCCCTGAGCC	0.592																																																	0													1.0	1.0	1.0					7																	102194904		4	29	33	SO:0001583	missense	441273			AK302217	CCDS34716.1, CCDS34716.2	7q22.1	2013-05-08	2013-05-08		ENSG00000205238	ENSG00000205238		"""Speedy homologs"""	33841	protein-coding gene	gene with protein product			"""speedy homolog E2 (Xenopus laevis)"""				Standard	NM_001031618		Approved	MGC119295		Q495Y8	OTTHUMG00000150385	ENST00000507918.1:c.259G>A	7.37:g.102194904G>A	ENSP00000421686:p.Ala87Thr	Somatic		WXS	Illumina HiSeq	Phase_IV	B4DY11	Missense_Mutation	SNP	pfam_Cell_cycle_regulatory_Spy1	p.A87T	ENST00000507918.1	37	c.259	CCDS34716.2	7	.	.	.	.	.	.	.	.	.	.	g	0.240	-1.014330	0.02095	.	.	ENSG00000205238	ENST00000507918	.	.	.	.	.	.	.	.	.	.	.	T	0.27313	0.0670	L	0.29908	0.895	0.09310	N	0.999991	B	0.10296	0.003	B	0.06405	0.002	T	0.21655	-1.0239	6	0.49607	T	0.09	.	.	.	.	.	87	Q495Y8	SPDE2_HUMAN	T	87	.	ENSP00000421686:A87T	A	+	1	0	SPDYE2	101982003	1.000000	0.71417	0.138000	0.22173	0.139000	0.21198	0.725000	0.25970	0.119000	0.18210	0.121000	0.15741	GCC	SPDYE2	-	NULL		0.592	SPDYE2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SPDYE2	HGNC	protein_coding	OTTHUMT00000358897.1	G	NM_001031618		102194904	+1	no_errors	ENST00000507918	ensembl	human	known	70_37	missense	SNP	0.144	A
SPEN	23013	genome.wustl.edu	37	1	16255142	16255143	+	Frame_Shift_Del	DEL	GA	GA	-			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	GA	GA					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr1:16255142_16255143delGA	ENST00000375759.3	+	11	2611_2612	c.2407_2408delGA	c.(2407-2409)gagfs	p.E803fs		NM_015001.2	NP_055816.2	Q96T58	MINT_HUMAN	spen family transcriptional repressor	803	Arg-rich.				negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|positive regulation of neurogenesis (GO:0050769)|positive regulation of transcription, DNA-templated (GO:0045893)|viral process (GO:0016032)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|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)|single-stranded DNA binding (GO:0003697)|transcription corepressor activity (GO:0003714)			NS(1)|breast(13)|central_nervous_system(3)|cervix(5)|endometrium(16)|kidney(18)|large_intestine(27)|liver(2)|lung(37)|ovary(7)|prostate(7)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	149		Colorectal(325;0.000258)|Breast(348;0.000278)|Lung NSC(340;0.000419)|Renal(390;0.000518)|all_lung(284;0.000567)|Ovarian(437;0.0129)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|Colorectal(212;5.96e-07)|COAD - Colon adenocarcinoma(227;3.11e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000115)|Kidney(64;0.000212)|KIRC - Kidney renal clear cell carcinoma(64;0.003)|STAD - Stomach adenocarcinoma(313;0.013)|READ - Rectum adenocarcinoma(331;0.0681)		GGAGAGAGTGGAGAGAGAGAGA	0.431																																																	0																																										SO:0001589	frameshift_variant	23013				CCDS164.1	1p36	2013-10-17	2013-10-17		ENSG00000065526	ENSG00000065526		"""RNA binding motif (RRM) containing"""	17575	protein-coding gene	gene with protein product		613484	"""SPEN homolog, transcriptional regulator (Drosophila)"", ""spen homolog, transcriptional regulator (Drosophila)"""			10451362, 11331609	Standard	NM_015001		Approved	KIAA0929, MINT, SHARP, RBM15C	uc001axk.1	Q96T58	OTTHUMG00000009376	ENST00000375759.3:c.2407_2408delGA	1.37:g.16255152_16255153delGA	ENSP00000364912:p.Glu803fs	Somatic		WXS	Illumina HiSeq	Phase_IV	Q9H9A8|Q9NWH5|Q9UQ01|Q9Y556	Frame_Shift_Del	DEL	pfam_RRM_dom,pfam_SPOC_C,superfamily_SPOC-like,smart_RRM_dom,pfscan_SPOC_met,pfscan_RRM_dom	p.R806fs	ENST00000375759.3	37	c.2407_2408	CCDS164.1	1																																																																																			SPEN	-	NULL		0.431	SPEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPEN	HGNC	protein_coding	OTTHUMT00000025993.1	GA	NM_015001		16255143	+1	no_errors	ENST00000375759	ensembl	human	known	70_37	frame_shift_del	DEL	0.999:1.000	-
SPG11	80208	genome.wustl.edu	37	15	44907617	44907617	+	Silent	SNP	G	G	A			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr15:44907617G>A	ENST00000261866.7	-	16	2998	c.2982C>T	c.(2980-2982)ctC>ctT	p.L994L	SPG11_ENST00000535302.2_Silent_p.L994L|SPG11_ENST00000558319.1_Silent_p.L994L|SPG11_ENST00000427534.2_Silent_p.L994L	NM_025137.3	NP_079413.3	Q96JI7	SPTCS_HUMAN	spastic paraplegia 11 (autosomal recessive)	994					cell death (GO:0008219)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)				autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	72		all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122)		all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214)		CCAAACAATAGAGAATGAATT	0.418																																																	0													140.0	124.0	129.0					15																	44907617		2198	4298	6496	SO:0001819	synonymous_variant	80208				CCDS10112.1, CCDS53939.1	15q13-q15	2007-11-13			ENSG00000104133	ENSG00000104133			11226	protein-coding gene	gene with protein product	"""spatacsin"""	610844	"""KIAA1840"""	KIAA1840		10408536, 17322883	Standard	NM_001160227		Approved	FLJ21439	uc001ztx.3	Q96JI7	OTTHUMG00000131199	ENST00000261866.7:c.2982C>T	15.37:g.44907617G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	A8KAX9|B9EK60|F5H3N6|Q4VC11|Q58G86|Q69YG6|Q6NW01|Q8N270|Q8TBU9|Q9H734	Silent	SNP	NULL	p.L994	ENST00000261866.7	37	c.2982	CCDS10112.1	15																																																																																			SPG11	-	NULL		0.418	SPG11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SPG11	HGNC	protein_coding	OTTHUMT00000253927.1	G			44907617	-1	no_errors	ENST00000261866	ensembl	human	known	70_37	silent	SNP	0.952	A
SPHKAP	80309	genome.wustl.edu	37	2	228855752	228855752	+	Missense_Mutation	SNP	G	G	C			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr2:228855752G>C	ENST00000392056.3	-	11	4969	c.4923C>G	c.(4921-4923)atC>atG	p.I1641M	SPHKAP_ENST00000344657.5_Missense_Mutation_p.I1612M	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	1641						extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|Z disc (GO:0030018)	protein kinase A binding (GO:0051018)			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		TCTTAAAGTAGATGGTGGGAA	0.463																																																	0													82.0	81.0	81.0					2																	228855752		2203	4300	6503	SO:0001583	missense	80309				CCDS33389.1, CCDS46537.1	2q36.3	2010-08-20			ENSG00000153820	ENSG00000153820		"""A-kinase anchor proteins"""	30619	protein-coding gene	gene with protein product	"""sphingosine kinase type 1-interacting protein"""	611646				12080051, 11214970	Standard	NM_030623		Approved	SKIP	uc002vpq.2	Q2M3C7	OTTHUMG00000153584	ENST00000392056.3:c.4923C>G	2.37:g.228855752G>C	ENSP00000375909:p.Ile1641Met	Somatic		WXS	Illumina HiSeq	Phase_IV	Q68DA3|Q68DR8|Q9C0I5	Missense_Mutation	SNP	pfam_AKAP_110_C	p.I1641M	ENST00000392056.3	37	c.4923	CCDS46537.1	2	.	.	.	.	.	.	.	.	.	.	G	18.29	3.591155	0.66219	.	.	ENSG00000153820	ENST00000392056;ENST00000344657	T;T	0.06849	3.25;3.25	6.17	5.3	0.74995	A-kinase anchor 110kDa, C-terminal (1);	0.215793	0.49305	D	0.000145	T	0.22781	0.0550	L	0.48362	1.52	0.41851	D	0.990171	D;D	0.76494	0.999;0.999	D;D	0.76575	0.977;0.988	T	0.00675	-1.1615	10	0.72032	D	0.01	.	14.5336	0.67944	0.0692:0.0:0.9308:0.0	.	1641;1612	Q2M3C7;Q2M3C7-2	SPKAP_HUMAN;.	M	1641;1612	ENSP00000375909:I1641M;ENSP00000339886:I1612M	ENSP00000339886:I1612M	I	-	3	3	SPHKAP	228563996	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.254000	0.58798	1.633000	0.50488	0.655000	0.94253	ATC	SPHKAP	-	pfam_AKAP_110_C		0.463	SPHKAP-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SPHKAP	HGNC	protein_coding	OTTHUMT00000331750.1	G	NM_030623		228855752	-1	no_errors	ENST00000392056	ensembl	human	known	70_37	missense	SNP	1.000	C
SPHKAP	80309	genome.wustl.edu	37	2	228881750	228881750	+	Missense_Mutation	SNP	C	C	T			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr2:228881750C>T	ENST00000392056.3	-	7	3866	c.3820G>A	c.(3820-3822)Gtg>Atg	p.V1274M	SPHKAP_ENST00000344657.5_Missense_Mutation_p.V1274M	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	1274						extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|Z disc (GO:0030018)	protein kinase A binding (GO:0051018)			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		ACCGGCTGCACGCTTAGGAAA	0.512																																																	0													75.0	73.0	74.0					2																	228881750		2203	4300	6503	SO:0001583	missense	80309				CCDS33389.1, CCDS46537.1	2q36.3	2010-08-20			ENSG00000153820	ENSG00000153820		"""A-kinase anchor proteins"""	30619	protein-coding gene	gene with protein product	"""sphingosine kinase type 1-interacting protein"""	611646				12080051, 11214970	Standard	NM_030623		Approved	SKIP	uc002vpq.2	Q2M3C7	OTTHUMG00000153584	ENST00000392056.3:c.3820G>A	2.37:g.228881750C>T	ENSP00000375909:p.Val1274Met	Somatic		WXS	Illumina HiSeq	Phase_IV	Q68DA3|Q68DR8|Q9C0I5	Missense_Mutation	SNP	pfam_AKAP_110_C	p.V1274M	ENST00000392056.3	37	c.3820	CCDS46537.1	2	.	.	.	.	.	.	.	.	.	.	C	10.95	1.494540	0.26774	.	.	ENSG00000153820	ENST00000392056;ENST00000344657	T;T	0.44881	0.91;0.91	6.08	6.08	0.98989	.	0.231545	0.44688	D	0.000435	T	0.60508	0.2274	M	0.64997	1.995	0.35040	D	0.75961	D;D;D	0.76494	0.992;0.999;0.999	P;P;D	0.64595	0.79;0.84;0.927	T	0.69964	-0.5002	10	0.87932	D	0	.	15.166	0.72825	0.0:0.8596:0.1404:0.0	.	305;1274;1274	B3KR30;Q2M3C7;Q2M3C7-2	.;SPKAP_HUMAN;.	M	1274	ENSP00000375909:V1274M;ENSP00000339886:V1274M	ENSP00000339886:V1274M	V	-	1	0	SPHKAP	228589994	0.923000	0.31300	0.077000	0.20336	0.022000	0.10575	1.673000	0.37534	2.894000	0.99253	0.655000	0.94253	GTG	SPHKAP	-	NULL		0.512	SPHKAP-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SPHKAP	HGNC	protein_coding	OTTHUMT00000331750.1	C	NM_030623		228881750	-1	no_errors	ENST00000392056	ensembl	human	known	70_37	missense	SNP	0.690	T
SPINK5	11005	genome.wustl.edu	37	5	147499874	147499875	+	Frame_Shift_Ins	INS	-	-	A	rs565782662		TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr5:147499874_147499875insA	ENST00000256084.7	+	26	2500_2501	c.2458_2459insA	c.(2458-2460)gaafs	p.E820fs	SPINK5_ENST00000398454.1_Frame_Shift_Ins_p.E820fs|SPINK5_ENST00000359874.3_Frame_Shift_Ins_p.E820fs	NM_006846.3	NP_006837.2	Q9NQ38	ISK5_HUMAN	serine peptidase inhibitor, Kazal type 5	820	Kazal-like 12. {ECO:0000255|PROSITE- ProRule:PRU00798}.				anagen (GO:0042640)|epidermal cell differentiation (GO:0009913)|epithelial cell differentiation (GO:0030855)|extracellular matrix organization (GO:0030198)|hair cell differentiation (GO:0035315)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of immune response (GO:0050777)|negative regulation of proteolysis (GO:0045861)|negative regulation of serine-type peptidase activity (GO:1902572)|regulation of cell adhesion (GO:0030155)|regulation of T cell differentiation (GO:0045580)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|epidermal lamellar body (GO:0097209)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|perinuclear region of cytoplasm (GO:0048471)	serine-type endopeptidase inhibitor activity (GO:0004867)	p.K823fs*101(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(16)|ovary(4)|prostate(1)|skin(5)|stomach(8)|upper_aerodigestive_tract(2)	64			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGAAGCAGCTGAAAAAAAAAAG	0.391																																																	1	Deletion - Frameshift(1)	ovary(1)																																								SO:0001589	frameshift_variant	11005			AJ228139	CCDS43382.1, CCDS47300.1, CCDS47301.1	5q31-q32	2014-09-17	2005-08-17		ENSG00000133710	ENSG00000133710		"""Serine peptidase inhibitors, Kazal type"""	15464	protein-coding gene	gene with protein product	"""lymphoepithelial Kazal-type-related inhibitor"""	605010	"""serine protease inhibitor, Kazal type 5"""			10419450	Standard	NM_001127698		Approved	VAKTI, LEKTI, LETKI, NETS, NS, FLJ21544, FLJ97536, FLJ97596, FLJ99794, DKFZp686K19184	uc003loy.2	Q9NQ38	OTTHUMG00000134305	ENST00000256084.7:c.2468dupA	5.37:g.147499884_147499884dupA	ENSP00000256084:p.Glu820fs	Somatic		WXS	Illumina HiSeq	Phase_IV	A8MYE8|B7WPB7|D6REN5|O75770|Q3LX95|Q3LX96|Q3LX97|Q96PP2|Q96PP3	Frame_Shift_Ins	INS	pfam_Kazal-type_dom,pfam_Prot_inh_Kazal,smart_Prot_inh_Kazal	p.K824fs	ENST00000256084.7	37	c.2458_2459	CCDS43382.1	5																																																																																			SPINK5	-	pfam_Kazal-type_dom,smart_Prot_inh_Kazal		0.391	SPINK5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	SPINK5	HGNC	protein_coding	OTTHUMT00000259215.2	-	NM_001127698		147499875	+1	no_errors	ENST00000359874	ensembl	human	known	70_37	frame_shift_ins	INS	1.000:0.998	A
SPOCK2	9806	genome.wustl.edu	37	10	73828011	73828011	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr10:73828011G>A	ENST00000373109.2	-	6	967	c.523C>T	c.(523-525)Cga>Tga	p.R175*	SPOCK2_ENST00000536168.1_Nonsense_Mutation_p.R175*|SPOCK2_ENST00000460053.1_5'UTR|SPOCK2_ENST00000317376.4_Nonsense_Mutation_p.R175*	NM_001244950.1	NP_001231879.1	Q92563	TICN2_HUMAN	sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 2	175	Kazal-like. {ECO:0000255|PROSITE- ProRule:PRU00798}.				extracellular matrix organization (GO:0030198)|peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)|positive regulation of cell-substrate adhesion (GO:0010811)|regulation of cell differentiation (GO:0045595)|signal transduction (GO:0007165)|synapse assembly (GO:0007416)	proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|extracellular matrix binding (GO:0050840)|glycosaminoglycan binding (GO:0005539)			endometrium(2)|large_intestine(2)|lung(2)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	9						CCCTCGCATCGCACCGCCAGC	0.672																																																	0													25.0	22.0	23.0					10																	73828011		2202	4300	6502	SO:0001587	stop_gained	9806			AJ001453	CCDS7313.1, CCDS44431.1	10q22.1	2013-09-19			ENSG00000107742	ENSG00000107742			13564	protein-coding gene	gene with protein product		607988				10386950	Standard	NM_014767		Approved	KIAA0275, testican-2	uc001jso.2	Q92563	OTTHUMG00000018430	ENST00000373109.2:c.523C>T	10.37:g.73828011G>A	ENSP00000362201:p.Arg175*	Somatic		WXS	Illumina HiSeq	Phase_IV	C9J767|Q6UW87	Nonsense_Mutation	SNP	pfam_SPARC/Testican_Ca-bd-dom,pfam_Thyroglobulin_1,pfam_Kazal-type_dom,pfam_Prot_inh_Kazal,superfamily_Thyroglobulin_1,smart_Prot_inh_Kazal,smart_Thyroglobulin_1,pfscan_Thyroglobulin_1	p.R175*	ENST00000373109.2	37	c.523	CCDS7313.1	10	.	.	.	.	.	.	.	.	.	.	G	38	6.868649	0.97897	.	.	ENSG00000107742	ENST00000373109;ENST00000317376;ENST00000536168	.	.	.	5.33	2.94	0.34122	.	0.204155	0.48767	D	0.000170	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.12103	T	0.63	.	12.5375	0.56150	0.0:0.0:0.4063:0.5937	.	.	.	.	X	172;175;175	.	ENSP00000321108:R175X	R	-	1	2	SPOCK2	73498017	1.000000	0.71417	0.967000	0.41034	0.313000	0.28021	2.030000	0.41108	0.317000	0.23160	-0.723000	0.03601	CGA	SPOCK2	-	pfam_Kazal-type_dom,pfam_Prot_inh_Kazal,smart_Prot_inh_Kazal		0.672	SPOCK2-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SPOCK2	HGNC	protein_coding	OTTHUMT00000048560.2	G			73828011	-1	no_errors	ENST00000317376	ensembl	human	known	70_37	nonsense	SNP	0.970	A
SPTA1	6708	genome.wustl.edu	37	1	158606460	158606460	+	Frame_Shift_Del	DEL	C	C	-			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr1:158606460delC	ENST00000368147.4	-	37	5461	c.5281delG	c.(5281-5283)gagfs	p.E1761fs		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	1761					actin filament capping (GO:0051693)|actin filament organization (GO:0007015)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|lymphocyte homeostasis (GO:0002260)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of protein binding (GO:0032092)|positive regulation of T cell proliferation (GO:0042102)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|cuticular plate (GO:0032437)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					GCCACCAGCTCCCCCTCTAGG	0.463																																																	0													108.0	106.0	107.0					1																	158606460		1869	4101	5970	SO:0001589	frameshift_variant	6708			M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554		"""EF-hand domain containing"""	11272	protein-coding gene	gene with protein product	"""elliptocytosis 2"""	182860	"""spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"""				Standard	NM_003126		Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.5281delG	1.37:g.158606460delC	ENSP00000357129:p.Glu1761fs	Somatic		WXS	Illumina HiSeq	Phase_IV	Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Frame_Shift_Del	DEL	pfam_Spectrin_repeat,pfam_EF-hand_Ca_insen,pfam_SH3_domain,pfam_SH3_2,superfamily_SH3_domain,smart_Spectrin/alpha-actinin,smart_SH3_domain,pfscan_EF_HAND_2,pfscan_SH3_domain,prints_Spectrin_alpha_SH3	p.E1761fs	ENST00000368147.4	37	c.5281	CCDS41423.1	1																																																																																			SPTA1	-	pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin		0.463	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPTA1	HGNC	protein_coding	OTTHUMT00000051851.3	C	NM_003126		158606460	-1	no_errors	ENST00000368148	ensembl	human	known	70_37	frame_shift_del	DEL	1.000	-
SRGAP1	57522	genome.wustl.edu	37	12	64458903	64458903	+	Silent	SNP	C	C	T	rs200749162		TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr12:64458903C>T	ENST00000355086.3	+	8	1553	c.1029C>T	c.(1027-1029)tgC>tgT	p.C343C	SRGAP1_ENST00000357825.3_Silent_p.C343C|SRGAP1_ENST00000543397.1_Silent_p.C303C|RP11-196H14.2_ENST00000535594.1_RNA	NM_020762.2	NP_065813.1	Q7Z6B7	SRGP1_HUMAN	SLIT-ROBO Rho GTPase activating protein 1	343	F-BAR domain.				axon guidance (GO:0007411)|cell migration (GO:0016477)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	Rho GTPase activator activity (GO:0005100)	p.C343C(1)		breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	65			GBM - Glioblastoma multiforme(3;0.000139)|BRCA - Breast invasive adenocarcinoma(9;0.225)	GBM - Glioblastoma multiforme(28;0.0608)		ATCAGGTGTGCCAGGTCAGTG	0.517																																																	1	Substitution - coding silent(1)	large_intestine(1)											91.0	67.0	75.0					12																	64458903		2203	4300	6503	SO:0001819	synonymous_variant	57522			AB037725	CCDS8967.1	12q13.13	2011-07-04			ENSG00000196935	ENSG00000196935		"""Rho GTPase activating proteins"""	17382	protein-coding gene	gene with protein product		606523				11672528	Standard	NM_020762		Approved	KIAA1304, ARHGAP13	uc010ssp.1	Q7Z6B7	OTTHUMG00000168750	ENST00000355086.3:c.1029C>T	12.37:g.64458903C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q9H8A3|Q9P2P2	Silent	SNP	pfam_RhoGAP_dom,pfam_FCH,pfam_SH3_domain,pfam_SH3_2,superfamily_Rho_GTPase_activation_prot,superfamily_SH3_domain,superfamily_Fuc/Ara_isomerase_C,smart_FCH,smart_RhoGAP_dom,smart_SH3_domain,pfscan_FCH,pfscan_SH3_domain,pfscan_RhoGAP_dom	p.C343	ENST00000355086.3	37	c.1029	CCDS8967.1	12																																																																																			SRGAP1	-	superfamily_Fuc/Ara_isomerase_C		0.517	SRGAP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SRGAP1	HGNC	protein_coding	OTTHUMT00000400896.1	C			64458903	+1	no_errors	ENST00000355086	ensembl	human	known	70_37	silent	SNP	0.999	T
SSPO	23145	genome.wustl.edu	37	7	149489010	149489010	+	RNA	SNP	G	G	A	rs370624870		TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr7:149489010G>A	ENST00000378016.2	+	0	5351							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion (GO:0007155)	extracellular space (GO:0005615)	peptidase inhibitor activity (GO:0030414)					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			AATGGGGGCCGCACCTGTGCT	0.657																																																	0								G		1,4111		0,1,2055	21.0	25.0	24.0		5355	-0.6	0.1	7		24	0,8338		0,0,4169	no	coding-notMod3	SSPO	NM_198455.2		0,1,6224	AA,AG,GG		0.0,0.0243,0.0080			149489010	1,12449	2056	4169	6225			23145			AK093431		7q36.1	2013-08-07	2013-08-06		ENSG00000197558	ENSG00000197558			21998	protein-coding gene	gene with protein product	"""subcommissural organ spondin"", ""SCO protein, thrombospondin domain containing"""		"""SCO-spondin homolog (Bos taurus)"""			8743952, 11008217	Standard	NM_198455		Approved	SCO-spondin, KIAA0543, FLJ36112	uc010lpk.3	A2VEC9	OTTHUMG00000157884		7.37:g.149489010G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q76B61	RNA	SNP	-	NULL	ENST00000378016.2	37	NULL		7																																																																																			SSPO	-	-		0.657	SSPO-202	KNOWN	basic	processed_transcript	SSPO	HGNC	processed_transcript		G			149489010	+1	no_errors	ENST00000262089	ensembl	human	known	70_37	rna	SNP	0.128	A
SSUH2	51066	genome.wustl.edu	37	3	8672598	8672598	+	Missense_Mutation	SNP	G	G	A			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr3:8672598G>A	ENST00000317371.4	-	13	1577	c.352C>T	c.(352-354)Ccg>Tcg	p.P118S	SSUH2_ENST00000415132.1_Missense_Mutation_p.P118S|SSUH2_ENST00000544814.1_Missense_Mutation_p.P140S|SSUH2_ENST00000341795.3_Missense_Mutation_p.P118S			Q9Y2M2	SSUH2_HUMAN	ssu-2 homolog (C. elegans)	118						cytoplasm (GO:0005737)											CCTCTTTGCGGCCCATCCACA	0.527																																																	0													70.0	67.0	68.0					3																	8672598		2203	4300	6503	SO:0001583	missense	51066			AB024705	CCDS2568.1, CCDS58815.1	3p25.3	2012-11-05	2012-11-05	2012-11-05	ENSG00000125046	ENSG00000125046			24809	protein-coding gene	gene with protein product			"""chromosome 3 open reading frame 32"""	C3orf32		20205943	Standard	NM_001256748		Approved	fls485, ssu-2	uc011atg.3	Q9Y2M2	OTTHUMG00000122075	ENST00000317371.4:c.352C>T	3.37:g.8672598G>A	ENSP00000324551:p.Pro118Ser	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NFA9|B3KS84|B7Z6E3|F5H2S5|Q7Z7K4	Missense_Mutation	SNP	superfamily_HSP_DnaJ_Cys-rich_dom	p.P140S	ENST00000317371.4	37	c.418	CCDS2568.1	3	.	.	.	.	.	.	.	.	.	.	G	17.32	3.359768	0.61403	.	.	ENSG00000125046	ENST00000341795;ENST00000317371;ENST00000415132;ENST00000544814;ENST00000427408	T;T;T;T;T	0.47177	0.9;0.9;0.88;0.91;0.85	5.72	5.72	0.89469	.	0.376195	0.31438	N	0.007652	T	0.65883	0.2734	M	0.71206	2.165	0.42224	D	0.991865	D;D	0.76494	0.999;0.999	D;D	0.69479	0.964;0.964	T	0.62900	-0.6756	10	0.32370	T	0.25	-19.4249	15.3754	0.74602	0.0:0.0:1.0:0.0	.	140;118	F5H2S5;Q9Y2M2	.;CC032_HUMAN	S	118;118;118;140;140	ENSP00000339150:P118S;ENSP00000324551:P118S;ENSP00000410757:P118S;ENSP00000439378:P140S;ENSP00000401289:P140S	ENSP00000324551:P118S	P	-	1	0	C3orf32	8647598	1.000000	0.71417	0.966000	0.40874	0.987000	0.75469	5.945000	0.70226	2.699000	0.92147	0.591000	0.81541	CCG	SSUH2	-	NULL		0.527	SSUH2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	SSUH2	HGNC	protein_coding	OTTHUMT00000337900.1	G	NM_015931		8672598	-1	no_errors	ENST00000544814	ensembl	human	known	70_37	missense	SNP	0.907	A
SSX7	280658	genome.wustl.edu	37	X	52681983	52681983	+	Missense_Mutation	SNP	T	T	G			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chrX:52681983T>G	ENST00000298181.5	-	3	279	c.121A>C	c.(121-123)Aaa>Caa	p.K41Q		NM_173358.2	NP_775494.1	Q7RTT5	SSX7_HUMAN	synovial sarcoma, X breakpoint 7	41	KRAB-related. {ECO:0000255|PROSITE- ProRule:PRU00120}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|skin(1)	16	Ovarian(276;0.236)					TCCAAGGATTTCATCTTTTCC	0.378																																																	0													171.0	136.0	148.0					X																	52681983		2203	4299	6502	SO:0001583	missense	280658			BK000687	CCDS14343.1	Xp11.23	2011-02-10			ENSG00000187754	ENSG00000187754			19653	protein-coding gene	gene with protein product		300542				12216073	Standard	NM_173358		Approved		uc004dqx.1	Q7RTT5	OTTHUMG00000021572	ENST00000298181.5:c.121A>C	X.37:g.52681983T>G	ENSP00000298181:p.Lys41Gln	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_SSXRD_motif,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box-rel	p.K41Q	ENST00000298181.5	37	c.121	CCDS14343.1	X	.	.	.	.	.	.	.	.	.	.	N	8.524	0.869354	0.17322	.	.	ENSG00000187754	ENST00000298181	T	0.00816	5.66	0.56	0.56	0.17279	Krueppel-associated box (2);Krueppel-associated box-related (1);	3.155740	0.00837	N	0.001704	T	0.04003	0.0112	L	0.58925	1.835	0.09310	N	1	D	0.89917	1.0	D	0.91635	0.999	T	0.41627	-0.9498	9	0.28530	T	0.3	.	.	.	.	.	41	Q7RTT5	SSX7_HUMAN	Q	41	ENSP00000298181:K41Q	ENSP00000298181:K41Q	K	-	1	0	SSX7	52698708	0.000000	0.05858	0.003000	0.11579	0.013000	0.08279	-0.674000	0.05233	0.429000	0.26202	0.146000	0.16034	AAA	SSX7	-	superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box-rel		0.378	SSX7-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	SSX7	HGNC	protein_coding	OTTHUMT00000056671.1	T	NM_173358		52681983	-1	no_errors	ENST00000298181	ensembl	human	known	70_37	missense	SNP	0.003	G
ST3GAL5	8869	genome.wustl.edu	37	2	86090554	86090554	+	Missense_Mutation	SNP	G	G	A			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr2:86090554G>A	ENST00000377332.3	-	2	245	c.137C>T	c.(136-138)tCc>tTc	p.S46F	ST3GAL5_ENST00000393805.1_Missense_Mutation_p.S18F|ST3GAL5_ENST00000393808.3_Missense_Mutation_p.S23F|ST3GAL5_ENST00000484728.1_5'UTR|ST3GAL5_ENST00000525834.2_Missense_Mutation_p.S46F	NM_003896.3	NP_003887.3	Q9UNP4	SIAT9_HUMAN	ST3 beta-galactoside alpha-2,3-sialyltransferase 5	46					carbohydrate metabolic process (GO:0005975)|ganglioside biosynthetic process (GO:0001574)|glycosphingolipid biosynthetic process (GO:0006688)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)	Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	lactosylceramide alpha-2,3-sialyltransferase activity (GO:0047291)|neolactotetraosylceramide alpha-2,3-sialyltransferase activity (GO:0004513)|sialyltransferase activity (GO:0008373)			cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(6)|skin(2)|upper_aerodigestive_tract(1)	15						CCATTGCAGGGAAGGCCTCGA	0.507																																																	0													128.0	116.0	120.0					2																	86090554		2203	4300	6503	SO:0001583	missense	8869			AB018356	CCDS1986.2, CCDS42705.1	2p11.2	2013-03-01	2005-02-07	2005-02-07	ENSG00000115525	ENSG00000115525	2.4.99.9	"""Sialyltransferases"""	10872	protein-coding gene	gene with protein product		604402	"""sialyltransferase 9 (CMP-NeuAc:lactosylceramide alpha-2,3-sialyltransferase; GM3 synthase)"""	SIAT9		9822625	Standard	NM_003896		Approved	ST3GalV, SIATGM3S	uc002sqq.1	Q9UNP4	OTTHUMG00000130171	ENST00000377332.3:c.137C>T	2.37:g.86090554G>A	ENSP00000366549:p.Ser46Phe	Somatic		WXS	Illumina HiSeq	Phase_IV	B3KM82|D6W5L9|O94902|Q53QU1|Q6NZX4|Q6YFL1	Missense_Mutation	SNP	pfam_Glyco_trans_29,pirsf_Sialyl_trans	p.S46F	ENST00000377332.3	37	c.137	CCDS1986.2	2	.	.	.	.	.	.	.	.	.	.	G	15.69	2.909166	0.52439	.	.	ENSG00000115525	ENST00000393808;ENST00000393805;ENST00000377332;ENST00000455892;ENST00000525834	T;T;T;T;T	0.56444	1.2;1.22;1.09;0.69;0.46	5.53	3.7	0.42460	.	0.571224	0.16061	N	0.231472	T	0.54334	0.1852	N	0.24115	0.695	0.29416	N	0.860862	D;D;B;B	0.71674	0.998;0.998;0.119;0.189	D;D;B;B	0.65443	0.935;0.935;0.077;0.16	T	0.50659	-0.8802	10	0.72032	D	0.01	-8.7253	8.9058	0.35523	0.1812:0.0:0.8188:0.0	.	46;46;46;23	G3V199;B7Z9J0;Q9UNP4;Q9UNP4-3	.;.;SIAT9_HUMAN;.	F	23;18;46;18;46	ENSP00000377397:S23F;ENSP00000377394:S18F;ENSP00000366549:S46F;ENSP00000401375:S18F;ENSP00000433607:S46F	ENSP00000306247:S46F	S	-	2	0	ST3GAL5	85944065	0.999000	0.42202	0.938000	0.37757	0.967000	0.64934	1.430000	0.34914	1.457000	0.47850	0.650000	0.86243	TCC	ST3GAL5	-	NULL		0.507	ST3GAL5-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	ST3GAL5	HGNC	protein_coding	OTTHUMT00000252486.1	G	NM_003896		86090554	-1	no_errors	ENST00000377332	ensembl	human	known	70_37	missense	SNP	0.934	A
ST3GAL6	10402	genome.wustl.edu	37	3	98501744	98501744	+	Intron	SNP	C	C	T			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr3:98501744C>T	ENST00000483910.1	+	6	624				ST3GAL6_ENST00000265261.6_Intron|ST3GAL6_ENST00000394162.1_Intron|ST3GAL6_ENST00000462152.1_Intron	NM_001271146.1	NP_001258075.1	Q9Y274	SIA10_HUMAN	ST3 beta-galactoside alpha-2,3-sialyltransferase 6						carbohydrate metabolic process (GO:0005975)|cellular protein modification process (GO:0006464)|cellular response to interleukin-6 (GO:0071354)|glycolipid metabolic process (GO:0006664)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|oligosaccharide metabolic process (GO:0009311)|protein glycosylation (GO:0006486)|sialylation (GO:0097503)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)|integral component of membrane (GO:0016021)	beta-galactoside alpha-2,3-sialyltransferase activity (GO:0052798)			breast(2)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(7)|ovary(1)	19						CAACAACCCTCAGGATTCAGA	0.458																																																	0																																										SO:0001627	intron_variant	10402			AF119391	CCDS2933.1, CCDS59452.1, CCDS74968.1	3q12.2	2013-03-01	2005-02-07	2005-02-07	ENSG00000064225	ENSG00000064225		"""Sialyltransferases"""	18080	protein-coding gene	gene with protein product		607156	"""sialyltransferase 10 (alpha-2,3-sialyltransferase VI)"""	SIAT10		10206952	Standard	NM_006100		Approved	ST3GALVI	uc010hpd.4	Q9Y274	OTTHUMG00000159047	ENST00000483910.1:c.336-2045C>T	3.37:g.98501744C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B2RCH2|B3KMI1|D3DN39|F8W6U0	RNA	SNP	-	NULL	ENST00000483910.1	37	NULL	CCDS2933.1	3																																																																																			ST3GAL6	-	-		0.458	ST3GAL6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ST3GAL6	HGNC	protein_coding	OTTHUMT00000353013.2	C	NM_006100		98501744	+1	no_errors	ENST00000466482	ensembl	human	known	70_37	rna	SNP	0.861	T
STC1	6781	genome.wustl.edu	37	8	23702481	23702481	+	Silent	SNP	C	C	T			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr8:23702481C>T	ENST00000290271.2	-	4	829	c.546G>A	c.(544-546)ctG>ctA	p.L182L	STC1_ENST00000524323.1_Silent_p.L113L	NM_003155.2	NP_003146.1	P52823	STC1_HUMAN	stanniocalcin 1	182					bone development (GO:0060348)|cellular calcium ion homeostasis (GO:0006874)|cellular response to cAMP (GO:0071320)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to hypoxia (GO:0071456)|chondrocyte proliferation (GO:0035988)|decidualization (GO:0046697)|embryo implantation (GO:0007566)|endothelial cell morphogenesis (GO:0001886)|growth plate cartilage axis specification (GO:0003421)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of cell migration (GO:0030336)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of renal phosphate excretion (GO:1903403)|ossification (GO:0001503)|positive regulation of calcium ion import (GO:0090280)|regulation of anion transport (GO:0044070)|regulation of cardiac muscle cell contraction (GO:0086004)|response to vitamin D (GO:0033280)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|nucleus (GO:0005634)				breast(1)|cervix(1)|endometrium(3)|large_intestine(4)|lung(9)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	26		Prostate(55;0.055)|Breast(100;0.116)		Colorectal(74;0.0155)|COAD - Colon adenocarcinoma(73;0.0632)		TTTTCTCCATCAGGCTGTCTC	0.498																																																	0													181.0	161.0	168.0					8																	23702481		2203	4300	6503	SO:0001819	synonymous_variant	6781				CCDS6043.1	8p22-p12	2008-06-23			ENSG00000159167	ENSG00000159167			11373	protein-coding gene	gene with protein product		601185		STC		9480753	Standard	NM_003155		Approved		uc003xdw.1	P52823	OTTHUMG00000097853	ENST00000290271.2:c.546G>A	8.37:g.23702481C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B4DN22|Q71UE5	Silent	SNP	pfam_Stanniocalcin	p.L182	ENST00000290271.2	37	c.546	CCDS6043.1	8																																																																																			STC1	-	pfam_Stanniocalcin		0.498	STC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STC1	HGNC	protein_coding	OTTHUMT00000215143.1	C			23702481	-1	no_errors	ENST00000290271	ensembl	human	known	70_37	silent	SNP	1.000	T
STK11IP	114790	genome.wustl.edu	37	2	220479926	220479926	+	Missense_Mutation	SNP	G	G	A			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr2:220479926G>A	ENST00000456909.1	+	24	3070	c.2980G>A	c.(2980-2982)Gaa>Aaa	p.E994K	STK11IP_ENST00000295641.10_Missense_Mutation_p.E1005K			Q8N1F8	S11IP_HUMAN	serine/threonine kinase 11 interacting protein	1005					protein localization (GO:0008104)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal membrane (GO:0005765)	protein kinase binding (GO:0019901)			breast(2)|endometrium(5)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|urinary_tract(1)	23		Renal(207;0.0183)		Epithelial(149;2.69e-07)|all cancers(144;5.91e-05)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		AGCATCTGGCGAAGCCTCTGA	0.652																																																	0													14.0	17.0	16.0					2																	220479926		2162	4279	6441	SO:0001583	missense	114790			AF450267	CCDS46521.1	2q35	2008-06-03			ENSG00000144589	ENSG00000144589			19184	protein-coding gene	gene with protein product	"""LKB1 interacting protein"""	607172				11741830	Standard	NM_052902		Approved	LIP1, KIAA1898, LKB1IP, STK11IP1	uc002vml.3	Q8N1F8	OTTHUMG00000059239	ENST00000456909.1:c.2980G>A	2.37:g.220479926G>A	ENSP00000389383:p.Glu994Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q8NAW9|Q8WXE4|Q96CN3|Q96PY9	Missense_Mutation	SNP	NULL	p.E994K	ENST00000456909.1	37	c.2980		2	.	.	.	.	.	.	.	.	.	.	G	16.37	3.104095	0.56291	.	.	ENSG00000144589	ENST00000456909;ENST00000295641	T;T	0.06933	3.24;3.24	4.63	4.63	0.57726	.	0.193171	0.33253	N	0.005111	T	0.24431	0.0592	M	0.63428	1.95	0.30288	N	0.790662	D	0.76494	0.999	D	0.78314	0.991	T	0.01566	-1.1323	10	0.56958	D	0.05	-8.9574	12.8775	0.57998	0.0:0.0:1.0:0.0	.	1005	Q8N1F8	S11IP_HUMAN	K	994;1005	ENSP00000389383:E994K;ENSP00000295641:E1005K	ENSP00000295641:E1005K	E	+	1	0	STK11IP	220188170	0.241000	0.23857	0.932000	0.37286	0.012000	0.07955	2.622000	0.46427	2.410000	0.81850	0.561000	0.74099	GAA	STK11IP	-	NULL		0.652	STK11IP-001	NOVEL	basic|appris_principal	protein_coding	STK11IP	HGNC	protein_coding	OTTHUMT00000131432.1	G	NM_052902		220479926	+1	no_errors	ENST00000456909	ensembl	human	novel	70_37	missense	SNP	0.872	A
STK4	6789	genome.wustl.edu	37	20	43623740	43623740	+	Missense_Mutation	SNP	G	G	A			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr20:43623740G>A	ENST00000372806.3	+	6	630	c.535G>A	c.(535-537)Gcc>Acc	p.A179T	STK4_ENST00000396731.4_Missense_Mutation_p.A179T|STK4_ENST00000372801.1_Missense_Mutation_p.A179T|STK4_ENST00000499879.2_Missense_Mutation_p.A124T	NM_006282.2	NP_006273.1	Q13043	STK4_HUMAN	serine/threonine kinase 4	179	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|cell differentiation involved in embryonic placenta development (GO:0060706)|cell morphogenesis (GO:0000902)|central nervous system development (GO:0007417)|endocardium development (GO:0003157)|hepatocyte apoptotic process (GO:0097284)|hippo signaling (GO:0035329)|intracellular signal transduction (GO:0035556)|keratinocyte differentiation (GO:0030216)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of organ growth (GO:0046621)|neural tube formation (GO:0001841)|patterning of blood vessels (GO:0001569)|peptidyl-serine phosphorylation (GO:0018105)|positive regulation of apoptotic process (GO:0043065)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|primitive hemopoiesis (GO:0060215)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|magnesium ion binding (GO:0000287)|protein dimerization activity (GO:0046983)|protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activator activity (GO:0043539)|protein serine/threonine kinase activity (GO:0004674)|transcription factor binding (GO:0008134)			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|liver(2)|lung(5)|ovary(1)|prostate(1)|skin(2)	20		Myeloproliferative disorder(115;0.0122)				GGATACCATGGCCAAGCGGAA	0.413																																					GBM(187;1039 2137 11798 21916 33213)												0													136.0	132.0	133.0					20																	43623740		2203	4300	6503	SO:0001583	missense	6789				CCDS13341.1	20q11.2-q13.2	2014-09-17			ENSG00000101109	ENSG00000101109			11408	protein-coding gene	gene with protein product	"""mammalian sterile 20-like 1"", ""yeast Ste20-like"", ""kinase responsive to stress 2"""	604965				8816758, 9545236, 11517310	Standard	NM_006282		Approved	MST1, KRS2, YSK3	uc002xnb.3	Q13043	OTTHUMG00000033059	ENST00000372806.3:c.535G>A	20.37:g.43623740G>A	ENSP00000361892:p.Ala179Thr	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RCR8|Q15802|Q4G156|Q5H982|Q6PD60|Q9BR32|Q9NTZ4	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_SARAH_domain,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_SARAH,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.A179T	ENST00000372806.3	37	c.535	CCDS13341.1	20	.	.	.	.	.	.	.	.	.	.	G	33	5.245113	0.95272	.	.	ENSG00000101109	ENST00000372806;ENST00000396731;ENST00000372801;ENST00000499879	T;T;T;T	0.64991	-0.13;-0.13;-0.13;-0.13	5.9	5.9	0.94986	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	0.85682	D	0.000000	T	0.65688	0.2715	N	0.10707	0.03	0.80722	D	1	D;D;D;D	0.89917	1.0;0.977;0.982;0.982	D;P;P;D	0.91635	0.999;0.877;0.901;0.925	T	0.71520	-0.4568	10	0.51188	T	0.08	.	20.2822	0.98520	0.0:0.0:1.0:0.0	.	124;179;179;179	F5H5B4;Q13043-2;A0PJ51;Q13043	.;.;.;STK4_HUMAN	T	179;179;179;124	ENSP00000361892:A179T;ENSP00000379957:A179T;ENSP00000361887:A179T;ENSP00000443514:A124T	ENSP00000361887:A179T	A	+	1	0	STK4	43057154	1.000000	0.71417	1.000000	0.80357	0.910000	0.53928	9.338000	0.96553	2.806000	0.96561	0.655000	0.94253	GCC	STK4	-	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		0.413	STK4-003	KNOWN	basic|appris_principal|CCDS	protein_coding	STK4	HGNC	protein_coding	OTTHUMT00000080401.4	G	NM_006282		43623740	+1	no_errors	ENST00000372806	ensembl	human	known	70_37	missense	SNP	1.000	A
STOX2	56977	genome.wustl.edu	37	4	184932745	184932746	+	Intron	INS	-	-	A			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr4:184932745_184932746insA	ENST00000308497.4	+	3	4020				STOX2_ENST00000438269.1_Stop_Codon_Ins	NM_020225.1	NP_064610.1	Q9P2F5	STOX2_HUMAN	storkhead box 2						embryo development (GO:0009790)|maternal placenta development (GO:0001893)					breast(1)|endometrium(7)|lung(6)	14		all_lung(41;1.89e-12)|Lung NSC(41;3.48e-12)|Colorectal(36;0.00435)|Renal(120;0.0246)|Hepatocellular(41;0.0268)|all_hematologic(60;0.027)|Prostate(90;0.0283)		all cancers(43;2.85e-26)|Epithelial(43;2.27e-22)|OV - Ovarian serous cystadenocarcinoma(60;3.4e-10)|Colorectal(24;8.23e-06)|GBM - Glioblastoma multiforme(59;1.64e-05)|STAD - Stomach adenocarcinoma(60;3.6e-05)|COAD - Colon adenocarcinoma(29;4.37e-05)|LUSC - Lung squamous cell carcinoma(40;0.008)|READ - Rectum adenocarcinoma(43;0.227)		TTCAGGAATTGAAAAAAATGTT	0.381																																																	0																																										SO:0001627	intron_variant	56977			AB037813	CCDS47167.1	4q35.1	2014-09-11			ENSG00000173320	ENSG00000173320			25450	protein-coding gene	gene with protein product							Standard	XM_005263142		Approved	DKFZp762K222	uc003ivz.1	Q9P2F5	OTTHUMG00000160618	ENST00000308497.4:c.2585+169->A	4.37:g.184932752_184932752dupA		Somatic		WXS	Illumina HiSeq	Phase_IV	A6H8U4|Q9NPS8	Frame_Shift_Ins	INS	pfam_Storkhead-box_winged-helix	p.*865fs	ENST00000308497.4	37	c.2591_2592	CCDS47167.1	4																																																																																			STOX2	-	NULL		0.381	STOX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	STOX2	HGNC	protein_coding	OTTHUMT00000361433.3	-	NM_020225		184932746	+1	no_errors	ENST00000438269	ensembl	human	known	70_37	frame_shift_ins	INS	1.000:0.998	A
STX2	2054	genome.wustl.edu	37	12	131297555	131297555	+	Missense_Mutation	SNP	T	T	A			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr12:131297555T>A	ENST00000392373.2	-	4	321	c.227A>T	c.(226-228)gAt>gTt	p.D76V	RP11-989F5.1_ENST00000546264.1_lincRNA|snoU13_ENST00000459050.1_RNA|RP11-989F5.3_ENST00000542821.1_lincRNA|STX2_ENST00000261653.6_Missense_Mutation_p.D76V	NM_194356.2	NP_919337.1	P32856	STX2_HUMAN	syntaxin 2	76					acrosome reaction (GO:0007340)|cell differentiation (GO:0030154)|ectoderm development (GO:0007398)|intracellular protein transport (GO:0006886)|organ morphogenesis (GO:0009887)|regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)|signal transduction (GO:0007165)	basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cell-cell junction (GO:0005911)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane raft (GO:0045121)	calcium-dependent protein binding (GO:0048306)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(7)|prostate(1)	16	all_neural(191;0.0982)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;2.79e-06)|all cancers(50;5.27e-05)|Epithelial(86;5.29e-05)		TTTGTTCAGATCTTCAAGCTC	0.259																																																	0													75.0	76.0	76.0					12																	131297555		2202	4296	6498	SO:0001583	missense	2054			D14582	CCDS9269.1, CCDS9270.1	12q24	2008-02-05	2006-04-25	2006-04-25	ENSG00000111450	ENSG00000111450			3403	protein-coding gene	gene with protein product		132350	"""epimorphin"""	STX2B, STX2C, STX2A, EPIM		8938452, 15943887	Standard	NM_001980		Approved	EPM	uc001uio.4	P32856	OTTHUMG00000168365	ENST00000392373.2:c.227A>T	12.37:g.131297555T>A	ENSP00000376178:p.Asp76Val	Somatic		WXS	Illumina HiSeq	Phase_IV	Q86VW8	Missense_Mutation	SNP	pfam_Syntaxin_N,pfam_T_SNARE_dom,superfamily_t-SNARE,smart_Syntaxin_N,smart_T_SNARE_dom,pfscan_T_SNARE_dom	p.D76V	ENST00000392373.2	37	c.227	CCDS9270.1	12	.	.	.	.	.	.	.	.	.	.	T	14.62	2.590389	0.46214	.	.	ENSG00000111450	ENST00000261653;ENST00000392373	T;T	0.19532	2.14;2.14	4.26	4.26	0.50523	t-SNARE (1);Syntaxin, N-terminal (2);	0.315095	0.34178	N	0.004186	T	0.24624	0.0597	M	0.71036	2.16	0.46774	D	0.999193	P;B;B	0.34800	0.469;0.332;0.257	B;B;B	0.33121	0.117;0.075;0.158	T	0.06534	-1.0821	10	0.45353	T	0.12	-37.7758	12.655	0.56782	0.0:0.0:0.0:1.0	.	76;76;76	P32856-3;P32856-2;P32856	.;.;STX2_HUMAN	V	76	ENSP00000261653:D76V;ENSP00000376178:D76V	ENSP00000261653:D76V	D	-	2	0	STX2	129863508	0.999000	0.42202	1.000000	0.80357	0.998000	0.95712	3.588000	0.53964	1.916000	0.55485	0.533000	0.62120	GAT	STX2	-	pfam_Syntaxin_N,superfamily_t-SNARE,smart_Syntaxin_N		0.259	STX2-002	KNOWN	basic|CCDS	protein_coding	STX2	HGNC	protein_coding	OTTHUMT00000399455.2	T	NM_194356		131297555	-1	no_errors	ENST00000392373	ensembl	human	known	70_37	missense	SNP	1.000	A
SUSD4	55061	genome.wustl.edu	37	1	223536672	223536672	+	Silent	SNP	C	C	G			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr1:223536672C>G	ENST00000343846.3	-	1	729	c.96G>C	c.(94-96)gtG>gtC	p.V32V	SUSD4_ENST00000478605.1_5'UTR|SUSD4_ENST00000366877.3_Silent_p.V32V|SUSD4_ENST00000494793.2_Silent_p.V32V|SUSD4_ENST00000344029.6_Silent_p.V32V|SUSD4_ENST00000366878.4_Silent_p.V32V|SUSD4_ENST00000484758.2_Silent_p.V32V|SUSD4_ENST00000454695.2_5'UTR			Q5VX71	SUSD4_HUMAN	sushi domain containing 4	32						integral component of membrane (GO:0016021)				cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|liver(1)|lung(5)|skin(1)	17				GBM - Glioblastoma multiforme(131;0.0611)		ACCACAGGATCACGGCCAAGA	0.607																																																	0													36.0	35.0	35.0					1																	223536672		2203	4299	6502	SO:0001819	synonymous_variant	55061			AK096265	CCDS31034.1, CCDS41471.1	1q41	2008-05-14			ENSG00000143502	ENSG00000143502			25470	protein-coding gene	gene with protein product		615827				12477932	Standard	NM_017982		Approved	FLJ10052	uc001hny.4	Q5VX71	OTTHUMG00000037936	ENST00000343846.3:c.96G>C	1.37:g.223536672C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	D3DTB9|Q6UX62|Q9BSR0|Q9NWG0	Silent	SNP	pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	p.V32	ENST00000343846.3	37	c.96	CCDS41471.1	1																																																																																			SUSD4	-	NULL		0.607	SUSD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SUSD4	HGNC	protein_coding	OTTHUMT00000092592.2	C	NM_017982		223536672	-1	no_errors	ENST00000343846	ensembl	human	known	70_37	silent	SNP	1.000	G
SVEP1	79987	genome.wustl.edu	37	9	113217900	113217900	+	Missense_Mutation	SNP	A	A	C			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr9:113217900A>C	ENST00000401783.2	-	22	4093	c.3757T>G	c.(3757-3759)Ttc>Gtc	p.F1253V	SVEP1_ENST00000302728.8_Missense_Mutation_p.F1253V|SVEP1_ENST00000467821.1_5'UTR|SVEP1_ENST00000374469.1_Missense_Mutation_p.F1230V	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	1253	EGF-like 2; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				cell adhesion (GO:0007155)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|chromatin binding (GO:0003682)			NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						TCACAAATGAATTCCCCAACT	0.398																																																	0													75.0	72.0	73.0					9																	113217900		1890	4117	6007	SO:0001583	missense	79987			AK027870		9q31-q32	2008-02-05	2005-03-15	2005-03-17	ENSG00000165124	ENSG00000165124			15985	protein-coding gene	gene with protein product		611691	"""chromosome 9 open reading frame 13"""	C9orf13			Standard	NM_153366		Approved	bA427L11.3, POLYDOM, FLJ13529	uc010mtz.3	Q4LDE5	OTTHUMG00000020482	ENST00000401783.2:c.3757T>G	9.37:g.113217900A>C	ENSP00000384917:p.Phe1253Val	Somatic		WXS	Illumina HiSeq	Phase_IV	Q0P675|Q5D213|Q5T938|Q5VTE4|Q5VTE5|Q7Z387|Q7Z3G3|Q8NBT9|Q96JU7|Q9H284|Q9H8J9	Missense_Mutation	SNP	pfam_Sushi_SCR_CCP,pfam_EG-like_dom,pfam_Tyr-kin_ephrin_A/B_rcpt-like,pfam_Hyalin,pfam_VWF_A,pfam_Pentaxin,pfam_EGF_extracell,pfam_EGF-like_Ca-bd,superfamily_ConA-like_lec_gl_sf,superfamily_Complement_control_module,superfamily_Growth_fac_rcpt,smart_VWF_A,smart_Sushi_SCR_CCP,smart_EGF-like_Ca-bd,smart_EG-like_dom,smart_Pentaxin,pfscan_EG-like_dom,pfscan_Hyalin,pfscan_Sushi_SCR_CCP,pfscan_VWF_A,prints_Pentaxin	p.F1253V	ENST00000401783.2	37	c.3757	CCDS48004.1	9	.	.	.	.	.	.	.	.	.	.	A	23.1	4.374623	0.82573	.	.	ENSG00000165124	ENST00000401783;ENST00000374469;ENST00000302728	D;D;D	0.93307	-3.2;-3.2;-3.2	5.79	5.79	0.91817	EGF-like calcium-binding, conserved site (1);EGF (1);EGF-like calcium-binding (1);Epidermal growth factor-like, type 3 (1);	0.000000	0.85682	D	0.000000	D	0.97139	0.9065	M	0.89095	3.005	0.43971	D	0.996655	D;D	0.69078	0.997;0.996	D;D	0.81914	0.948;0.995	D	0.97885	1.0294	10	0.87932	D	0	.	16.1169	0.81309	1.0:0.0:0.0:0.0	.	1253;1253	E9PBN8;Q4LDE5	.;SVEP1_HUMAN	V	1253;1230;1253	ENSP00000384917:F1253V;ENSP00000363593:F1230V;ENSP00000304118:F1253V	ENSP00000304118:F1253V	F	-	1	0	SVEP1	112257721	1.000000	0.71417	0.825000	0.32803	0.583000	0.36354	8.930000	0.92872	2.205000	0.71048	0.482000	0.46254	TTC	SVEP1	-	pfam_EG-like_dom,pfam_EGF_extracell,smart_EGF-like_Ca-bd,smart_EG-like_dom,pfscan_EG-like_dom		0.398	SVEP1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	SVEP1	HGNC	protein_coding		A			113217900	-1	no_errors	ENST00000401783	ensembl	human	known	70_37	missense	SNP	0.997	C
SWT1	54823	genome.wustl.edu	37	1	185130004	185130004	+	Missense_Mutation	SNP	G	G	C			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr1:185130004G>C	ENST00000367500.4	+	2	196	c.31G>C	c.(31-33)Gag>Cag	p.E11Q	SWT1_ENST00000367501.3_Missense_Mutation_p.E11Q	NM_017673.6	NP_060143.4	Q5T5J6	SWT1_HUMAN	SWT1 RNA endoribonuclease homolog (S. cerevisiae)	11										breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(16)|ovary(1)|prostate(1)|urinary_tract(1)	41						TGGGAAAAAAGAGACATCTCA	0.318																																																	0													82.0	84.0	84.0					1																	185130004		2203	4300	6503	SO:0001583	missense	54823			AF288392	CCDS1367.1	1q25	2013-08-29	2011-01-24	2011-01-24	ENSG00000116668	ENSG00000116668			16785	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 26"""	C1orf26		11318611, 19127978, 23768067	Standard	NM_017673		Approved	FLJ20121, HsSwt1	uc001grg.4	Q5T5J6	OTTHUMG00000035390	ENST00000367500.4:c.31G>C	1.37:g.185130004G>C	ENSP00000356470:p.Glu11Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	Q8NEK9|Q9BZQ7|Q9NXQ0	Missense_Mutation	SNP	smart_PINc_nuc-bd	p.E11Q	ENST00000367500.4	37	c.31	CCDS1367.1	1	.	.	.	.	.	.	.	.	.	.	G	13.03	2.114200	0.37339	.	.	ENSG00000116668	ENST00000367501;ENST00000367500;ENST00000450350	T;T;T	0.49139	0.79;0.79;0.79	5.28	5.28	0.74379	.	0.141591	0.33023	N	0.005366	T	0.46405	0.1391	L	0.53249	1.67	0.31019	N	0.718356	D	0.54601	0.967	B	0.43623	0.425	T	0.58329	-0.7655	10	0.52906	T	0.07	.	14.2852	0.66243	0.0:0.0:1.0:0.0	.	11	Q5T5J6	SWT1_HUMAN	Q	11	ENSP00000356471:E11Q;ENSP00000356470:E11Q;ENSP00000401413:E11Q	ENSP00000356470:E11Q	E	+	1	0	SWT1	183396627	0.997000	0.39634	0.822000	0.32727	0.260000	0.26232	1.724000	0.38064	2.741000	0.93983	0.585000	0.79938	GAG	SWT1	-	NULL		0.318	SWT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SWT1	HGNC	protein_coding	OTTHUMT00000085790.1	G	NM_017673		185130004	+1	no_errors	ENST00000367500	ensembl	human	known	70_37	missense	SNP	0.789	C
SYNE1	23345	genome.wustl.edu	37	6	152614828	152614828	+	Silent	SNP	C	C	T			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr6:152614828C>T	ENST00000367255.5	-	95	18508	c.17907G>A	c.(17905-17907)caG>caA	p.Q5969Q	SYNE1_ENST00000356820.4_Silent_p.Q493Q|SYNE1_ENST00000448038.1_Silent_p.Q5898Q|SYNE1_ENST00000341594.5_Silent_p.Q5581Q|SYNE1_ENST00000265368.4_Silent_p.Q5969Q|SYNE1_ENST00000423061.1_Silent_p.Q5898Q	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	5969					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		GGAGGGAGTCCTGGTACTTCT	0.522										HNSCC(10;0.0054)																																							0													118.0	111.0	113.0					6																	152614828		2203	4300	6503	SO:0001819	synonymous_variant	23345			AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.17907G>A	6.37:g.152614828C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Silent	SNP	pfam_Spectrin_repeat,pfam_CH-domain,pfam_KASH,superfamily_CH-domain,superfamily_Calpain_domain_III,superfamily_ABC_transptrTM_dom_typ1,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH	p.Q5969	ENST00000367255.5	37	c.17907	CCDS5236.2	6																																																																																			SYNE1	-	superfamily_Calpain_domain_III,superfamily_ABC_transptrTM_dom_typ1,smart_Spectrin/alpha-actinin		0.522	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SYNE1	HGNC	protein_coding	OTTHUMT00000334755.2	C	NM_182961		152614828	-1	no_errors	ENST00000265368	ensembl	human	known	70_37	silent	SNP	0.998	T
SYNE4	163183	genome.wustl.edu	37	19	36497520	36497520	+	Silent	SNP	C	C	T			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr19:36497520C>T	ENST00000324444.3	-	5	783	c.672G>A	c.(670-672)tcG>tcA	p.S224S	ALKBH6_ENST00000495116.2_5'Flank|AC002116.8_ENST00000473572.2_RNA|SYNE4_ENST00000340477.5_Silent_p.S111S	NM_001039876.1	NP_001034965.1	Q8N205	SYNE4_HUMAN	spectrin repeat containing, nuclear envelope family member 4	224			S -> L (in dbSNP:rs34818970).		establishment of epithelial cell apical/basal polarity (GO:0045198)	integral component of nuclear outer membrane (GO:0031309)											CTGGCCAGTCCGAGTCTCCCT	0.657																																																	0													21.0	23.0	22.0					19																	36497520		1892	4110	6002	SO:0001819	synonymous_variant	163183			BC038360	CCDS42553.1	19q13.12	2014-01-28	2012-05-31	2012-05-31	ENSG00000181392	ENSG00000181392			26703	protein-coding gene	gene with protein product		615535	"""chromosome 19 open reading frame 46"", ""deafness, autosomal recessive 76"""	C19orf46, DFNB76		23348741	Standard	XM_005258597		Approved	FLJ36445, Nesprin-4, Nesp4	uc002ocq.1	Q8N205	OTTHUMG00000048135	ENST00000324444.3:c.672G>A	19.37:g.36497520C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A8MRS0|A8MYE3|Q7Z7L3	Silent	SNP	pfam_KASH,pfscan_KASH	p.S224	ENST00000324444.3	37	c.672	CCDS42553.1	19																																																																																			SYNE4	-	NULL		0.657	SYNE4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SYNE4	HGNC	protein_coding	OTTHUMT00000109525.3	C	NM_001039876		36497520	-1	no_errors	ENST00000324444	ensembl	human	known	70_37	silent	SNP	0.000	T
SYNRG	11276	genome.wustl.edu	37	17	35879070	35879070	+	Silent	SNP	A	A	G			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr17:35879070A>G	ENST00000339208.6	-	22	4058	c.3918T>C	c.(3916-3918)ccT>ccC	p.P1306P	SYNRG_ENST00000394378.2_Silent_p.P1251P|SYNRG_ENST00000346661.4_Silent_p.P1294P|SYNRG_ENST00000345615.4_Silent_p.P1216P|SYNRG_ENST00000591288.1_Silent_p.P1100P|SYNRG_ENST00000585472.1_Silent_p.P1227P|SYNRG_ENST00000502449.2_Silent_p.P1171P	NM_001163544.1|NM_001163545.1|NM_007247.4	NP_001157016.1|NP_001157017.1|NP_009178.3	Q9UMZ2	SYNRG_HUMAN	synergin, gamma	1306					endocytosis (GO:0006897)|intracellular protein transport (GO:0006886)	AP-1 adaptor complex (GO:0030121)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)	calcium ion binding (GO:0005509)			breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	36						GGACGAGGCCAGGAGGCTTTG	0.507																																																	0													196.0	189.0	192.0					17																	35879070		2203	4300	6503	SO:0001819	synonymous_variant	11276			AF169548	CCDS11321.1, CCDS11322.1, CCDS11322.2, CCDS54113.1, CCDS54114.1, CCDS59284.1, CCDS59285.1	17q12	2014-04-16	2009-07-20	2009-07-20	ENSG00000006114	ENSG00000275066			557	protein-coding gene	gene with protein product	"""gamma-synergin"", ""adaptor-related protein complex 1 gamma subunit-binding protein 1"""	607291	"""AP1 gamma subunit binding protein 1"""	AP1GBP1		10477754	Standard	XM_005256980		Approved	SYNG, MGC104959	uc010wdf.2	Q9UMZ2	OTTHUMG00000188473	ENST00000339208.6:c.3918T>C	17.37:g.35879070A>G		Somatic		WXS	Illumina HiSeq	Phase_IV	A8MWU4|B7ZKZ2|B7ZKZ3|Q17RI2|Q5BKU5|Q6ZT17	Silent	SNP	smart_EPS15_homology,pfscan_EPS15_homology	p.P1306	ENST00000339208.6	37	c.3918	CCDS11321.1	17																																																																																			SYNRG	-	NULL		0.507	SYNRG-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SYNRG	HGNC	protein_coding	OTTHUMT00000256811.2	A	NM_007247		35879070	-1	no_errors	ENST00000339208	ensembl	human	known	70_37	silent	SNP	0.966	G
SYT10	341359	genome.wustl.edu	37	12	33529812	33529812	+	Missense_Mutation	SNP	C	C	G			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr12:33529812C>G	ENST00000228567.3	-	7	1821	c.1525G>C	c.(1525-1527)Gat>Cat	p.D509H	SYT10_ENST00000535526.1_Missense_Mutation_p.D328H	NM_198992.3	NP_945343.1	Q6XYQ8	SYT10_HUMAN	synaptotagmin X	509					regulation of calcium ion-dependent exocytosis (GO:0017158)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|synaptic vesicle (GO:0008021)	metal ion binding (GO:0046872)|transporter activity (GO:0005215)			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(18)|ovary(1)|prostate(3)|skin(4)|urinary_tract(1)	42	Lung NSC(5;8.37e-07)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0334)					CCTTGACTATCAAAACTGGTC	0.413																																																	0													125.0	122.0	123.0					12																	33529812		2203	4300	6503	SO:0001583	missense	341359			AY198413	CCDS8732.1	12p11	2013-01-21			ENSG00000110975	ENSG00000110975		"""Synaptotagmins"""	19266	protein-coding gene	gene with protein product							Standard	NM_198992		Approved		uc001rll.1	Q6XYQ8	OTTHUMG00000169269	ENST00000228567.3:c.1525G>C	12.37:g.33529812C>G	ENSP00000228567:p.Asp509His	Somatic		WXS	Illumina HiSeq	Phase_IV	Q495U2	Missense_Mutation	SNP	pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting,prints_Synaptotagmin,prints_C2_dom	p.D509H	ENST00000228567.3	37	c.1525	CCDS8732.1	12	.	.	.	.	.	.	.	.	.	.	C	24.8	4.566145	0.86439	.	.	ENSG00000110975	ENST00000228567;ENST00000535526	T;T	0.52526	0.75;0.66	4.73	4.73	0.59995	.	0.000000	0.42682	U	0.000666	T	0.55816	0.1944	L	0.51422	1.61	0.80722	D	1	D	0.56746	0.977	P	0.52856	0.711	T	0.58730	-0.7585	10	0.54805	T	0.06	.	17.5852	0.87979	0.0:1.0:0.0:0.0	.	509	Q6XYQ8	SYT10_HUMAN	H	509;328	ENSP00000228567:D509H;ENSP00000438691:D328H	ENSP00000228567:D509H	D	-	1	0	SYT10	33421079	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.181000	0.77682	2.539000	0.85634	0.655000	0.94253	GAT	SYT10	-	NULL		0.413	SYT10-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	SYT10	HGNC	protein_coding	OTTHUMT00000403222.1	C	NM_198992		33529812	-1	no_errors	ENST00000228567	ensembl	human	known	70_37	missense	SNP	1.000	G
SYT16	83851	genome.wustl.edu	37	14	62550973	62550973	+	Silent	SNP	G	G	A			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr14:62550973G>A	ENST00000430451.2	+	5	1691	c.1494G>A	c.(1492-1494)acG>acA	p.T498T		NM_031914.2	NP_114120.2	Q17RD7	SYT16_HUMAN	synaptotagmin XVI	498					exocytosis (GO:0006887)					central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(12)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	35				OV - Ovarian serous cystadenocarcinoma(108;0.0438)|BRCA - Breast invasive adenocarcinoma(234;0.118)		CTTCATCCACGCAGTCGCTGT	0.552																																																	0													109.0	107.0	108.0					14																	62550973		2003	4170	6173	SO:0001819	synonymous_variant	83851			BC040924	CCDS45121.1	14q23.2	2014-07-02	2005-07-15	2005-07-15	ENSG00000139973	ENSG00000139973		"""Synaptotagmins"""	23142	protein-coding gene	gene with protein product	"""synaptotagmin XIV-related"", "" chr14 synaptotagmin"""	610950	"""synaptotagmin XIV-like"""	SYT14L		11543631	Standard	NM_031914		Approved	yt14r, CHR14SYT, Strep14	uc001xfu.1	Q17RD7	OTTHUMG00000171106	ENST00000430451.2:c.1494G>A	14.37:g.62550973G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	B4DZH2|B7ZL60|C9J8I3|Q707N2|Q7Z441|Q8IUU0|Q9BQR8	Silent	SNP	pfam_C2_Ca-dep,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_C2_Ca-dep,pfscan_C2_membr_targeting	p.T498	ENST00000430451.2	37	c.1494	CCDS45121.1	14																																																																																			SYT16	-	NULL		0.552	SYT16-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	SYT16	HGNC	protein_coding	OTTHUMT00000411700.1	G	NM_031914		62550973	+1	no_errors	ENST00000430451	ensembl	human	novel	70_37	silent	SNP	0.937	A
TAB3	257397	genome.wustl.edu	37	X	30872356	30872356	+	Missense_Mutation	SNP	G	G	A	rs141293756		TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chrX:30872356G>A	ENST00000378933.1	-	3	1603	c.1426C>T	c.(1426-1428)Cgc>Tgc	p.R476C	TAB3-AS2_ENST00000445240.1_RNA|TAB3_ENST00000378932.2_Missense_Mutation_p.R476C|TAB3_ENST00000378930.3_Missense_Mutation_p.R476C|TAB3_ENST00000288422.2_Missense_Mutation_p.R476C|TAB3_ENST00000378928.1_5'Flank	NM_152787.3	NP_690000.2	Q8N5C8	TAB3_HUMAN	TGF-beta activated kinase 1/MAP3K7 binding protein 3	476					activation of MAPK activity (GO:0000187)|Fc-epsilon receptor signaling pathway (GO:0038095)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|JNK cascade (GO:0007254)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome membrane (GO:0010008)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(8)|kidney(1)|large_intestine(6)|lung(6)|ovary(2)|pancreas(1)|skin(1)	27						GCTGCAGAGCGCTCTTCTTGG	0.443																																					Pancreas(164;1598 1985 29022 43301 49529)												0								G	CYS/ARG	1,3832		0,1,1630,571	87.0	82.0	84.0		1426	4.9	1.0	X	dbSNP_134	84	0,6728		0,0,2428,1872	no	missense	TAB3	NM_152787.3	180	0,1,4058,2443	AA,AG,GG,G		0.0,0.0261,0.0095	probably-damaging	476/713	30872356	1,10560	2202	4300	6502	SO:0001583	missense	257397			AY331591	CCDS14226.1	Xp21.2	2010-02-05	2010-02-05	2010-02-05	ENSG00000157625	ENSG00000157625			30681	protein-coding gene	gene with protein product	"""TAK1 binding protein 3"""	300480	"""mitogen-activated protein kinase kinase kinase 7 interacting protein 3"""	MAP3K7IP3		14633987, 14670075	Standard	XM_005274482		Approved		uc004dcj.3	Q8N5C8	OTTHUMG00000021329	ENST00000378933.1:c.1426C>T	X.37:g.30872356G>A	ENSP00000368215:p.Arg476Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NDD9|Q6VQR0	Missense_Mutation	SNP	pfam_CUE,pfam_Znf_RanBP2,superfamily_UBA-like,smart_CUE,smart_Znf_RanBP2,pfscan_CUE,pfscan_Znf_RanBP2	p.R476C	ENST00000378933.1	37	c.1426	CCDS14226.1	X	.	.	.	.	.	.	.	.	.	.	G	19.87	3.907797	0.72868	2.61E-4	0.0	ENSG00000157625	ENST00000378933;ENST00000378930;ENST00000288422;ENST00000378932	T;T;T;T	0.73363	-0.74;-0.74;-0.74;-0.72	4.94	4.94	0.65067	.	0.148925	0.64402	D	0.000008	T	0.69886	0.3161	N	0.22421	0.69	0.58432	D	0.999999	D;D	0.69078	0.971;0.997	P;P	0.48795	0.59;0.548	T	0.75348	-0.3349	10	0.62326	D	0.03	-2.3808	17.6096	0.88049	0.0:0.0:1.0:0.0	.	476;476	Q8N5C8-2;Q8N5C8	.;TAB3_HUMAN	C	476	ENSP00000368215:R476C;ENSP00000368212:R476C;ENSP00000288422:R476C;ENSP00000368214:R476C	ENSP00000288422:R476C	R	-	1	0	TAB3	30782277	1.000000	0.71417	0.998000	0.56505	0.996000	0.88848	9.147000	0.94646	2.173000	0.68751	0.523000	0.50628	CGC	TAB3	-	NULL		0.443	TAB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAB3	HGNC	protein_coding	OTTHUMT00000056173.1	G	NM_152787		30872356	-1	no_errors	ENST00000288422	ensembl	human	known	70_37	missense	SNP	1.000	A
TADA2B	93624	genome.wustl.edu	37	4	7056023	7056023	+	Missense_Mutation	SNP	C	C	A			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr4:7056023C>A	ENST00000310074.7	+	2	694	c.505C>A	c.(505-507)Ctg>Atg	p.L169M	TADA2B_ENST00000512388.1_Missense_Mutation_p.L94M|TADA2B_ENST00000515646.1_Missense_Mutation_p.L77M	NM_152293.2	NP_689506.2	Q86TJ2	TAD2B_HUMAN	transcriptional adaptor 2B	169					chromatin organization (GO:0006325)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	SAGA-type complex (GO:0070461)|STAGA complex (GO:0030914)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(3)|endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)	18						CTACATGCCGCTGCGGGATGA	0.622																																																	0													23.0	25.0	24.0					4																	7056023		2058	4176	6234	SO:0001583	missense	93624			AK026299	CCDS47007.1	4p16.1	2009-10-02			ENSG00000173011	ENSG00000173011			30781	protein-coding gene	gene with protein product		608790				12972612, 18936164	Standard	NM_152293		Approved	MGC21874	uc003gjw.4	Q86TJ2	OTTHUMG00000159983	ENST00000310074.7:c.505C>A	4.37:g.7056023C>A	ENSP00000308022:p.Leu169Met	Somatic		WXS	Illumina HiSeq	Phase_IV	A0AUJ8|A4QMR7|B3KSN0|B3KU86|Q6MZG9	Missense_Mutation	SNP	pfam_SANT/Myb,pfam_Znf_ZZ,superfamily_Homeodomain-like,smart_Znf_ZZ,smart_SANT/Myb,pirsf_Transcriptional_adaptor_2,pfscan_Znf_ZZ,pfscan_Myb-like_dom	p.L169M	ENST00000310074.7	37	c.505	CCDS47007.1	4	.	.	.	.	.	.	.	.	.	.	C	19.48	3.835641	0.71373	.	.	ENSG00000173011	ENST00000506692;ENST00000310074;ENST00000512388;ENST00000515646;ENST00000510704	T;T;T;T;T	0.47869	0.83;0.91;0.91;0.91;0.91	5.29	5.29	0.74685	.	0.000000	0.85682	D	0.000000	T	0.65112	0.2660	M	0.64997	1.995	0.80722	D	1	D;D	0.71674	0.998;0.994	D;P	0.64877	0.93;0.854	T	0.61662	-0.7017	10	0.33141	T	0.24	-29.4544	18.9307	0.92564	0.0:1.0:0.0:0.0	.	94;169	Q86TJ2-2;Q86TJ2	.;TAD2B_HUMAN	M	77;169;94;77;77	ENSP00000422398:L77M;ENSP00000308022:L169M;ENSP00000423947:L94M;ENSP00000423181:L77M;ENSP00000425731:L77M	ENSP00000308022:L169M	L	+	1	2	TADA2B	7106924	1.000000	0.71417	0.974000	0.42286	0.796000	0.44982	7.401000	0.79962	2.481000	0.83766	0.561000	0.74099	CTG	TADA2B	-	pirsf_Transcriptional_adaptor_2		0.622	TADA2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TADA2B	HGNC	protein_coding	OTTHUMT00000358687.2	C	NM_152293		7056023	+1	no_errors	ENST00000310074	ensembl	human	known	70_37	missense	SNP	1.000	A
TAF1	6872	genome.wustl.edu	37	X	70601676	70601676	+	Missense_Mutation	SNP	G	G	C			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chrX:70601676G>C	ENST00000373790.4	+	9	1492	c.1441G>C	c.(1441-1443)Gag>Cag	p.E481Q	TAF1_ENST00000276072.3_Missense_Mutation_p.E502Q|TAF1_ENST00000423759.1_Missense_Mutation_p.E502Q|TAF1_ENST00000449580.1_Missense_Mutation_p.E481Q	NM_004606.3|NM_138923.2	NP_004597.2|NP_620278.1	P21675	TAF1_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa	481					cellular response to DNA damage stimulus (GO:0006974)|DNA-templated transcription, initiation (GO:0006352)|gene expression (GO:0010467)|histone acetylation (GO:0016573)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription initiation from RNA polymerase II promoter (GO:0060261)|protein autophosphorylation (GO:0046777)|regulation of transcription involved in G2/M transition of mitotic cell cycle (GO:0000117)|RNA polymerase II transcriptional preinitiation complex assembly (GO:0051123)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	MLL1 complex (GO:0071339)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)	ATP binding (GO:0005524)|histone acetyltransferase activity (GO:0004402)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|protein serine/threonine kinase activity (GO:0004674)|sequence-specific DNA binding (GO:0043565)|TBP-class protein binding (GO:0017025)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)			breast(13)|central_nervous_system(6)|cervix(1)|endometrium(25)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(16)|lung(34)|ovary(9)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	124	Renal(35;0.156)	all_lung(315;0.000321)				TGGACGCTGGGAGGACAATAT	0.458																																																	0													148.0	118.0	128.0					X																	70601676		2203	4300	6503	SO:0001583	missense	6872				CCDS14412.1, CCDS35325.1, CCDS69783.1	Xq13.1	2011-07-01	2002-08-29	2001-12-07	ENSG00000147133	ENSG00000147133		"""Chromatin-modifying enzymes / K-acetyltransferases"""	11535	protein-coding gene	gene with protein product		313650	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, A, 250kD"", ""dystonia 3 (with Parkinsonism)"""	TAF2A, BA2R, CCG1, CCGS, DYT3		3556424, 12928496, 17952504	Standard	XM_005262295		Approved	NSCL2, TAFII250, KAT4, DYT3/TAF1	uc004dzt.4	P21675	OTTHUMG00000022723	ENST00000373790.4:c.1441G>C	X.37:g.70601676G>C	ENSP00000362895:p.Glu481Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	A5CVC8|A5CVC9|A5CVD0|A5CVD1|B1Q2X3|Q59FZ3|Q6IUZ1|Q70Q86|Q70Q87|Q70T00|Q70T01|Q70T02|Q70T03	Missense_Mutation	SNP	pirsf_TAF1_animal,pfam_TFIID_sub1_DUF3591,pfam_Bromodomain,pfam_TAF_II_230-bd,superfamily_Bromodomain,superfamily_TAF_II_230-bd,smart_Bromodomain,prints_Bromodomain,pfscan_Bromodomain	p.E481Q	ENST00000373790.4	37	c.1441	CCDS35325.1	X	.	.	.	.	.	.	.	.	.	.	.	28.2	4.899865	0.91962	.	.	ENSG00000147133	ENST00000373790;ENST00000449580;ENST00000423759;ENST00000276072	T;T;T;T	0.12147	2.72;2.8;2.77;2.71	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	T	0.41719	0.1171	M	0.79011	2.435	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	T	0.36915	-0.9728	10	0.72032	D	0.01	.	18.3612	0.90375	0.0:0.0:1.0:0.0	.	481;502	P21675;P21675-2	TAF1_HUMAN;.	Q	481;481;502;502	ENSP00000362895:E481Q;ENSP00000389000:E481Q;ENSP00000406549:E502Q;ENSP00000276072:E502Q	ENSP00000276072:E502Q	E	+	1	0	TAF1	70518401	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.420000	0.97426	2.275000	0.75901	0.594000	0.82650	GAG	TAF1	-	pirsf_TAF1_animal		0.458	TAF1-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	TAF1	HGNC	protein_coding	OTTHUMT00000058995.2	G	NM_004606		70601676	+1	no_errors	ENST00000449580	ensembl	human	known	70_37	missense	SNP	1.000	C
TAF1	6872	genome.wustl.edu	37	X	70601684	70601684	+	Missense_Mutation	SNP	T	T	A			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chrX:70601684T>A	ENST00000373790.4	+	9	1500	c.1449T>A	c.(1447-1449)aaT>aaA	p.N483K	TAF1_ENST00000276072.3_Missense_Mutation_p.N504K|TAF1_ENST00000423759.1_Missense_Mutation_p.N504K|TAF1_ENST00000449580.1_Missense_Mutation_p.N483K	NM_004606.3|NM_138923.2	NP_004597.2|NP_620278.1	P21675	TAF1_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa	483					cellular response to DNA damage stimulus (GO:0006974)|DNA-templated transcription, initiation (GO:0006352)|gene expression (GO:0010467)|histone acetylation (GO:0016573)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription initiation from RNA polymerase II promoter (GO:0060261)|protein autophosphorylation (GO:0046777)|regulation of transcription involved in G2/M transition of mitotic cell cycle (GO:0000117)|RNA polymerase II transcriptional preinitiation complex assembly (GO:0051123)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	MLL1 complex (GO:0071339)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)	ATP binding (GO:0005524)|histone acetyltransferase activity (GO:0004402)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|protein serine/threonine kinase activity (GO:0004674)|sequence-specific DNA binding (GO:0043565)|TBP-class protein binding (GO:0017025)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)			breast(13)|central_nervous_system(6)|cervix(1)|endometrium(25)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(16)|lung(34)|ovary(9)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	124	Renal(35;0.156)	all_lung(315;0.000321)				GGGAGGACAATATCATTTGGG	0.458																																																	0													144.0	115.0	125.0					X																	70601684		2203	4300	6503	SO:0001583	missense	6872				CCDS14412.1, CCDS35325.1, CCDS69783.1	Xq13.1	2011-07-01	2002-08-29	2001-12-07	ENSG00000147133	ENSG00000147133		"""Chromatin-modifying enzymes / K-acetyltransferases"""	11535	protein-coding gene	gene with protein product		313650	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, A, 250kD"", ""dystonia 3 (with Parkinsonism)"""	TAF2A, BA2R, CCG1, CCGS, DYT3		3556424, 12928496, 17952504	Standard	XM_005262295		Approved	NSCL2, TAFII250, KAT4, DYT3/TAF1	uc004dzt.4	P21675	OTTHUMG00000022723	ENST00000373790.4:c.1449T>A	X.37:g.70601684T>A	ENSP00000362895:p.Asn483Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	A5CVC8|A5CVC9|A5CVD0|A5CVD1|B1Q2X3|Q59FZ3|Q6IUZ1|Q70Q86|Q70Q87|Q70T00|Q70T01|Q70T02|Q70T03	Missense_Mutation	SNP	pirsf_TAF1_animal,pfam_TFIID_sub1_DUF3591,pfam_Bromodomain,pfam_TAF_II_230-bd,superfamily_Bromodomain,superfamily_TAF_II_230-bd,smart_Bromodomain,prints_Bromodomain,pfscan_Bromodomain	p.N483K	ENST00000373790.4	37	c.1449	CCDS35325.1	X	.	.	.	.	.	.	.	.	.	.	.	15.44	2.834767	0.50951	.	.	ENSG00000147133	ENST00000373790;ENST00000449580;ENST00000423759;ENST00000276072	T;T;T;T	0.10860	2.83;2.91;2.89;2.83	5.51	1.71	0.24356	.	0.000000	0.85682	D	0.000000	T	0.11836	0.0288	L	0.54323	1.7	0.53688	D	0.999977	B;B	0.28584	0.138;0.216	B;B	0.33846	0.119;0.171	T	0.07404	-1.0774	10	0.45353	T	0.12	.	8.5675	0.33550	0.0:0.4374:0.0:0.5626	.	483;504	P21675;P21675-2	TAF1_HUMAN;.	K	483;483;504;504	ENSP00000362895:N483K;ENSP00000389000:N483K;ENSP00000406549:N504K;ENSP00000276072:N504K	ENSP00000276072:N504K	N	+	3	2	TAF1	70518409	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	0.779000	0.26746	0.198000	0.20407	0.481000	0.45027	AAT	TAF1	-	pirsf_TAF1_animal		0.458	TAF1-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	TAF1	HGNC	protein_coding	OTTHUMT00000058995.2	T	NM_004606		70601684	+1	no_errors	ENST00000449580	ensembl	human	known	70_37	missense	SNP	1.000	A
TAF1	6872	genome.wustl.edu	37	X	70621404	70621404	+	Missense_Mutation	SNP	T	T	G			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chrX:70621404T>G	ENST00000373790.4	+	25	3861	c.3810T>G	c.(3808-3810)atT>atG	p.I1270M	TAF1_ENST00000276072.3_Missense_Mutation_p.I1291M|TAF1_ENST00000423759.1_Missense_Mutation_p.I1291M|TAF1_ENST00000449580.1_Missense_Mutation_p.I1270M	NM_004606.3|NM_138923.2	NP_004597.2|NP_620278.1	P21675	TAF1_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa	1270					cellular response to DNA damage stimulus (GO:0006974)|DNA-templated transcription, initiation (GO:0006352)|gene expression (GO:0010467)|histone acetylation (GO:0016573)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription initiation from RNA polymerase II promoter (GO:0060261)|protein autophosphorylation (GO:0046777)|regulation of transcription involved in G2/M transition of mitotic cell cycle (GO:0000117)|RNA polymerase II transcriptional preinitiation complex assembly (GO:0051123)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	MLL1 complex (GO:0071339)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)	ATP binding (GO:0005524)|histone acetyltransferase activity (GO:0004402)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|protein serine/threonine kinase activity (GO:0004674)|sequence-specific DNA binding (GO:0043565)|TBP-class protein binding (GO:0017025)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)			breast(13)|central_nervous_system(6)|cervix(1)|endometrium(25)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(16)|lung(34)|ovary(9)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	124	Renal(35;0.156)	all_lung(315;0.000321)				GTGGTGCCATTGGACACATGA	0.458																																																	0													87.0	73.0	78.0					X																	70621404		2203	4300	6503	SO:0001583	missense	6872				CCDS14412.1, CCDS35325.1, CCDS69783.1	Xq13.1	2011-07-01	2002-08-29	2001-12-07	ENSG00000147133	ENSG00000147133		"""Chromatin-modifying enzymes / K-acetyltransferases"""	11535	protein-coding gene	gene with protein product		313650	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, A, 250kD"", ""dystonia 3 (with Parkinsonism)"""	TAF2A, BA2R, CCG1, CCGS, DYT3		3556424, 12928496, 17952504	Standard	XM_005262295		Approved	NSCL2, TAFII250, KAT4, DYT3/TAF1	uc004dzt.4	P21675	OTTHUMG00000022723	ENST00000373790.4:c.3810T>G	X.37:g.70621404T>G	ENSP00000362895:p.Ile1270Met	Somatic		WXS	Illumina HiSeq	Phase_IV	A5CVC8|A5CVC9|A5CVD0|A5CVD1|B1Q2X3|Q59FZ3|Q6IUZ1|Q70Q86|Q70Q87|Q70T00|Q70T01|Q70T02|Q70T03	Missense_Mutation	SNP	pirsf_TAF1_animal,pfam_TFIID_sub1_DUF3591,pfam_Bromodomain,pfam_TAF_II_230-bd,superfamily_Bromodomain,superfamily_TAF_II_230-bd,smart_Bromodomain,prints_Bromodomain,pfscan_Bromodomain	p.I1270M	ENST00000373790.4	37	c.3810	CCDS35325.1	X	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	17.14|17.14	3.314006|3.314006	0.60414|0.60414	.|.	.|.	ENSG00000147133|ENSG00000147133	ENST00000373790;ENST00000449580;ENST00000423759;ENST00000276072|ENST00000483985	T;T;T;T|.	0.49139|.	0.79;0.79;0.79;0.79|.	5.53|5.53	1.62|1.62	0.23740|0.23740	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.50548|0.50548	0.1622|0.1622	L|L	0.36672|0.36672	1.1|1.1	0.50467|0.50467	D|D	0.999873|0.999873	D;D;D|.	0.64830|.	0.981;0.967;0.994|.	D;P;D|.	0.65140|.	0.923;0.839;0.932|.	T|T	0.31308|0.31308	-0.9948|-0.9948	10|5	0.72032|.	D|.	0.01|.	.|.	9.3801|9.3801	0.38309|0.38309	0.0:0.2868:0.0:0.7132|0.0:0.2868:0.0:0.7132	.|.	1270;1270;1291|.	P21675-4;P21675;P21675-2|.	.;TAF1_HUMAN;.|.	M|W	1270;1270;1291;1291|181	ENSP00000362895:I1270M;ENSP00000389000:I1270M;ENSP00000406549:I1291M;ENSP00000276072:I1291M|.	ENSP00000276072:I1291M|.	I|L	+|+	3|2	3|0	TAF1|TAF1	70538129|70538129	0.834000|0.834000	0.29399|0.29399	0.999000|0.999000	0.59377|0.59377	0.981000|0.981000	0.71138|0.71138	-0.103000|-0.103000	0.10940|0.10940	0.228000|0.228000	0.21019|0.21019	0.342000|0.342000	0.21767|0.21767	ATT|TTG	TAF1	-	pirsf_TAF1_animal		0.458	TAF1-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	TAF1	HGNC	protein_coding	OTTHUMT00000058995.2	T	NM_004606		70621404	+1	no_errors	ENST00000449580	ensembl	human	known	70_37	missense	SNP	0.999	G
TAF4	6874	genome.wustl.edu	37	20	60581658	60581658	+	Missense_Mutation	SNP	C	C	T			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr20:60581658C>T	ENST00000252996.4	-	7	2130	c.2131G>A	c.(2131-2133)Gcc>Acc	p.A711T		NM_003185.3	NP_003176.2	O00268	TAF4_HUMAN	TAF4 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 135kDa	711					DNA-templated transcription, initiation (GO:0006352)|gene expression (GO:0010467)|ovarian follicle development (GO:0001541)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	cytoplasm (GO:0005737)|MLL1 complex (GO:0071339)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)|transcription factor TFTC complex (GO:0033276)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	37	Breast(26;1e-08)		BRCA - Breast invasive adenocarcinoma(19;3.1e-07)			GTCACGGTGGCCGCCGTCTTC	0.716																																																	0													15.0	17.0	17.0					20																	60581658		2187	4265	6452	SO:0001583	missense	6874			Y11354	CCDS33500.1	20q13.33	2010-02-26	2002-08-29	2002-01-18	ENSG00000130699	ENSG00000130699			11537	protein-coding gene	gene with protein product		601796	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, C1, 130kD"""	TAF4A, TAF2C1, TAF2C		8942982, 9192867	Standard	NM_003185		Approved	TAFII130, TAFII135	uc002ybs.3	O00268	OTTHUMG00000032893	ENST00000252996.4:c.2131G>A	20.37:g.60581658C>T	ENSP00000252996:p.Ala711Thr	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NGD9|Q5TBP6|Q99721|Q9BR40|Q9BX42	Missense_Mutation	SNP	pfam_TAF4,pfam_TAFH_NHR1,superfamily_Histone-fold,smart_TAFH_NHR1,pfscan_TAFH_NHR1	p.A711T	ENST00000252996.4	37	c.2131	CCDS33500.1	20	.	.	.	.	.	.	.	.	.	.	C	17.39	3.377489	0.61735	.	.	ENSG00000130699	ENST00000252996;ENST00000436129	T;T	0.25912	1.79;1.77	5.46	5.46	0.80206	.	0.259540	0.37483	N	0.002068	T	0.21427	0.0516	L	0.44542	1.39	0.51767	D	0.999931	P	0.34864	0.473	B	0.24848	0.056	T	0.05338	-1.0891	10	0.13108	T	0.6	-18.0454	19.2974	0.94128	0.0:1.0:0.0:0.0	.	711	O00268	TAF4_HUMAN	T	711;575	ENSP00000252996:A711T;ENSP00000399091:A575T	ENSP00000252996:A711T	A	-	1	0	TAF4	60015053	0.996000	0.38824	0.973000	0.42090	0.992000	0.81027	3.445000	0.52921	2.550000	0.86006	0.563000	0.77884	GCC	TAF4	-	NULL		0.716	TAF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAF4	HGNC	protein_coding	OTTHUMT00000079968.2	C	NM_003185		60581658	-1	no_errors	ENST00000252996	ensembl	human	known	70_37	missense	SNP	0.998	T
TANC1	85461	genome.wustl.edu	37	2	160074021	160074021	+	Silent	SNP	C	C	T			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr2:160074021C>T	ENST00000263635.6	+	20	3495	c.3258C>T	c.(3256-3258)gcC>gcT	p.A1086A	TANC1_ENST00000454300.1_Silent_p.A980A	NM_001145909.1|NM_033394.2	NP_001139381.1|NP_203752.2	Q9C0D5	TANC1_HUMAN	tetratricopeptide repeat, ankyrin repeat and coiled-coil containing 1	1086					dendritic spine maintenance (GO:0097062)|myoblast fusion (GO:0007520)|visual learning (GO:0008542)	axon terminus (GO:0043679)|cell junction (GO:0030054)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)				breast(3)|central_nervous_system(4)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(25)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	77						TGACTGCCGCCGCAGGAAGAG	0.547																																																	0													107.0	116.0	113.0					2																	160074021		2043	4218	6261	SO:0001819	synonymous_variant	85461			AB051515	CCDS42766.1	2q24.2	2013-01-11			ENSG00000115183	ENSG00000115183		"""Ankyrin repeat domain containing"", ""Tetratricopeptide (TTC) repeat domain containing"""	29364	protein-coding gene	gene with protein product	"""rolling pebbles homolog B (Drosophila)"""	611397				15673434	Standard	NM_033394		Approved	KIAA1728, ROLSB	uc002uag.3	Q9C0D5	OTTHUMG00000153945	ENST00000263635.6:c.3258C>T	2.37:g.160074021C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	C9JD88|Q49AI8	Silent	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_TPR_repeat,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_TPR_repeat,pfscan_TPR-contain_dom,prints_Ankyrin_rpt	p.A1086	ENST00000263635.6	37	c.3258	CCDS42766.1	2																																																																																			TANC1	-	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt		0.547	TANC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TANC1	HGNC	protein_coding	OTTHUMT00000333135.1	C			160074021	+1	no_errors	ENST00000263635	ensembl	human	known	70_37	silent	SNP	0.056	T
TAS1R3	83756	genome.wustl.edu	37	1	1267287	1267287	+	Missense_Mutation	SNP	G	G	A			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr1:1267287G>A	ENST00000339381.5	+	2	493	c.461G>A	c.(460-462)gGc>gAc	p.G154D		NM_152228.1	NP_689414	Q7RTX0	TS1R3_HUMAN	taste receptor, type 1, member 3	154					detection of chemical stimulus involved in sensory perception of sweet taste (GO:0001582)|G-protein coupled receptor signaling pathway (GO:0007186)|sensory perception of sweet taste (GO:0050916)|sensory perception of umami taste (GO:0050917)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein heterodimerization activity (GO:0046982)|taste receptor activity (GO:0008527)			kidney(2)|lung(8)|upper_aerodigestive_tract(1)|urinary_tract(1)	12	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;3.01e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.88e-21)|Colorectal(212;0.000157)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00229)|BRCA - Breast invasive adenocarcinoma(365;0.00251)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.034)|Lung(427;0.146)		ATGGTCACCGGCAAGTTCTTC	0.672																																																	0													40.0	45.0	44.0					1																	1267287		2200	4295	6495	SO:0001583	missense	83756			AC026283	CCDS30556.1	1p36	2012-08-22			ENSG00000169962	ENSG00000169962		"""Taste receptors / Type 1"", ""GPCR / Unclassified : Taste receptors"""	15661	protein-coding gene	gene with protein product		605865				11319557	Standard	XM_006710939		Approved	T1R3	uc010nyk.2	Q7RTX0	OTTHUMG00000003071	ENST00000339381.5:c.461G>A	1.37:g.1267287G>A	ENSP00000344411:p.Gly154Asp	Somatic		WXS	Illumina HiSeq	Phase_IV	Q5TA49|Q8NGW9	Missense_Mutation	SNP	pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,pfscan_GPCR_3_C,prints_GPCR_3	p.G154D	ENST00000339381.5	37	c.461	CCDS30556.1	1	.	.	.	.	.	.	.	.	.	.	G	15.54	2.862379	0.51482	.	.	ENSG00000169962	ENST00000339381	D	0.83075	-1.68	4.57	4.57	0.56435	Extracellular ligand-binding receptor (1);	0.195536	0.43747	D	0.000523	D	0.90383	0.6990	M	0.80847	2.515	0.43947	D	0.996614	D	0.71674	0.998	D	0.70935	0.971	D	0.91742	0.5405	10	0.87932	D	0	.	13.5297	0.61615	0.0:0.2081:0.7919:0.0	.	154	Q7RTX0	TS1R3_HUMAN	D	154	ENSP00000344411:G154D	ENSP00000344411:G154D	G	+	2	0	TAS1R3	1257150	1.000000	0.71417	0.936000	0.37596	0.013000	0.08279	4.468000	0.60162	2.097000	0.63578	0.561000	0.74099	GGC	TAS1R3	-	pfam_ANF_lig-bd_rcpt,prints_GPCR_3		0.672	TAS1R3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAS1R3	HGNC	protein_coding	OTTHUMT00000008493.1	G			1267287	+1	no_errors	ENST00000339381	ensembl	human	known	70_37	missense	SNP	0.992	A
TBC1D9B	23061	genome.wustl.edu	37	5	179306763	179306763	+	Silent	SNP	C	C	T			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr5:179306763C>T	ENST00000356834.3	-	8	1318	c.1281G>A	c.(1279-1281)tcG>tcA	p.S427S	TBC1D9B_ENST00000355235.3_Silent_p.S427S	NM_198868.2	NP_942568.2	Q66K14	TBC9B_HUMAN	TBC1 domain family, member 9B (with GRAM domain)	427						integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|Rab GTPase activator activity (GO:0005097)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	28	all_cancers(89;0.000197)|all_epithelial(37;6.84e-05)|Renal(175;0.000159)|Lung NSC(126;0.00136)|all_lung(126;0.00243)	all_cancers(40;0.0236)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CGGGCTGCTCCGACCCCTCCT	0.637																																																	0													23.0	29.0	27.0					5																	179306763		2202	4298	6500	SO:0001819	synonymous_variant	23061			AB014576	CCDS4450.1, CCDS43408.1	5q35.3	2013-01-10			ENSG00000197226	ENSG00000197226		"""EF-hand domain containing"""	29097	protein-coding gene	gene with protein product						9734811	Standard	NM_198868		Approved	KIAA0676	uc003mlh.3	Q66K14	OTTHUMG00000130911	ENST00000356834.3:c.1281G>A	5.37:g.179306763C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	D3DWQ5|D3DWQ6|O75163|Q53EY0|Q6MZI2|Q96H49	Silent	SNP	pfam_Rab-GTPase-TBC_dom,pfam_GRAM,superfamily_Rab-GTPase-TBC_dom,smart_GRAM,smart_Rab-GTPase-TBC_dom,pfscan_EF_HAND_2,pfscan_Rab-GTPase-TBC_dom	p.S427	ENST00000356834.3	37	c.1281	CCDS43408.1	5																																																																																			TBC1D9B	-	NULL		0.637	TBC1D9B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TBC1D9B	HGNC	protein_coding	OTTHUMT00000253501.3	C	NM_015043		179306763	-1	no_errors	ENST00000356834	ensembl	human	known	70_37	silent	SNP	0.000	T
TBCEL	219899	genome.wustl.edu	37	11	120957533	120957533	+	Missense_Mutation	SNP	G	G	A			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr11:120957533G>A	ENST00000529397.1	+	8	1103	c.1003G>A	c.(1003-1005)Gaa>Aaa	p.E335K	TBCEL_ENST00000422003.2_Missense_Mutation_p.E335K	NM_001130047.1	NP_001123519.1	Q5QJ74	TBCEL_HUMAN	tubulin folding cofactor E-like	335	Ubiquitin-like. {ECO:0000255|PROSITE- ProRule:PRU00214}.					cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)			TECTA/TBCEL(2)	endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	14		Breast(109;0.00526)|Medulloblastoma(222;0.0523)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;5.89e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.121)		GCCTTTGGCAGAAGTGGACCT	0.433																																																	0													97.0	89.0	92.0					11																	120957533		2203	4299	6502	SO:0001583	missense	219899			BC020501	CCDS31692.1	11q23.3	2008-02-05	2006-11-21	2006-11-21		ENSG00000154114			28115	protein-coding gene	gene with protein product		610451	"""leucine rich repeat containing 35"", ""tubulin-specific chaperone e-like"""	LRRC35		15728251	Standard	NM_152715		Approved	MGC10233	uc001pxo.3	Q5QJ74		ENST00000529397.1:c.1003G>A	11.37:g.120957533G>A	ENSP00000437184:p.Glu335Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q0VAN6	Missense_Mutation	SNP	pfscan_Ubiquitin_supergroup	p.E335K	ENST00000529397.1	37	c.1003	CCDS31692.1	11	.	.	.	.	.	.	.	.	.	.	G	22.1	4.245494	0.80024	.	.	ENSG00000154114	ENST00000529397;ENST00000422003;ENST00000533134;ENST00000533169	T;T	0.31247	1.5;1.5	5.76	5.76	0.90799	Ubiquitin supergroup (1);	0.092531	0.64402	D	0.000001	T	0.32466	0.0830	L	0.50333	1.59	0.58432	D	0.999997	P	0.36048	0.534	B	0.39185	0.293	T	0.05835	-1.0861	10	0.07644	T	0.81	-20.0247	19.9694	0.97278	0.0:0.0:1.0:0.0	.	335	Q5QJ74	TBCEL_HUMAN	K	335;335;102;138	ENSP00000437184:E335K;ENSP00000403925:E335K	ENSP00000403925:E335K	E	+	1	0	TBCEL	120462743	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.352000	0.97076	2.719000	0.93026	0.655000	0.94253	GAA	TBCEL	-	pfscan_Ubiquitin_supergroup		0.433	TBCEL-005	PUTATIVE	alternative_5_UTR|basic|appris_principal|exp_conf|CCDS	protein_coding	TBCEL	HGNC	protein_coding	OTTHUMT00000387688.1	G	NM_152715		120957533	+1	no_errors	ENST00000422003	ensembl	human	known	70_37	missense	SNP	1.000	A
TBK1	29110	genome.wustl.edu	37	12	64858234	64858234	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr12:64858234C>T	ENST00000331710.5	+	4	688	c.349C>T	c.(349-351)Cga>Tga	p.R117*		NM_013254.3	NP_037386.1	Q9UHD2	TBK1_HUMAN	TANK-binding kinase 1	117	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				defense response to Gram-positive bacterium (GO:0050830)|defense response to virus (GO:0051607)|dendritic cell proliferation (GO:0044565)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of gene expression (GO:0010629)|negative regulation of type I interferon production (GO:0032480)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|response to virus (GO:0009615)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|type I interferon production (GO:0032606)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome membrane (GO:0010008)	ATP binding (GO:0005524)|nucleic acid binding (GO:0003676)|phosphoprotein binding (GO:0051219)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(2)|large_intestine(7)|lung(7)|ovary(1)|pancreas(1)	20				GBM - Glioblastoma multiforme(28;0.0386)		AATTGTTTTGCGAGATGTGGG	0.279																																																	0													119.0	118.0	118.0					12																	64858234		2203	4300	6503	SO:0001587	stop_gained	29110			AF191838	CCDS8968.1	12q14.2	2006-06-10			ENSG00000183735	ENSG00000183735			11584	protein-coding gene	gene with protein product		604834				10581243, 10783893	Standard	NM_013254		Approved	NAK	uc001ssc.2	Q9UHD2	OTTHUMG00000168796	ENST00000331710.5:c.349C>T	12.37:g.64858234C>T	ENSP00000329967:p.Arg117*	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K4S4|Q8IYV3|Q9NUJ5	Nonsense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.R117*	ENST00000331710.5	37	c.349	CCDS8968.1	12	.	.	.	.	.	.	.	.	.	.	C	37	6.108193	0.97291	.	.	ENSG00000183735	ENST00000331710	.	.	.	5.29	4.28	0.50868	.	0.129039	0.52532	D	0.000077	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-5.344	13.1048	0.59241	0.2376:0.7624:0.0:0.0	.	.	.	.	X	117	.	.	R	+	1	2	TBK1	63144501	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.143000	0.42187	2.660000	0.90430	0.650000	0.86243	CGA	TBK1	-	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		0.279	TBK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TBK1	HGNC	protein_coding	OTTHUMT00000401130.1	C	NM_013254		64858234	+1	no_errors	ENST00000331710	ensembl	human	known	70_37	nonsense	SNP	1.000	T
TBPL2	387332	genome.wustl.edu	37	14	55895676	55895676	+	Missense_Mutation	SNP	G	G	T			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr14:55895676G>T	ENST00000247219.5	-	5	875	c.805C>A	c.(805-807)Ctt>Att	p.L269I		NM_199047.2	NP_950248.1			TATA box binding protein like 2											endometrium(2)|kidney(1)|large_intestine(1)|lung(4)	8						CTTGCTGCAAGTCGAGACTGC	0.438																																																	0													88.0	90.0	89.0					14																	55895676		2203	4300	6503	SO:0001583	missense	387332			AY457923	CCDS9724.1	14q22.2	2004-06-03			ENSG00000182521	ENSG00000182521			19841	protein-coding gene	gene with protein product		608964				14634207	Standard	NM_199047		Approved	TRF3, TBP2	uc001xby.3	Q6SJ96	OTTHUMG00000140313	ENST00000247219.5:c.805C>A	14.37:g.55895676G>T	ENSP00000247219:p.Leu269Ile	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_TBP,prints_TBP	p.L269I	ENST00000247219.5	37	c.805	CCDS9724.1	14	.	.	.	.	.	.	.	.	.	.	G	17.00	3.277900	0.59758	.	.	ENSG00000182521	ENST00000247219	T	0.52526	0.66	4.91	4.91	0.64330	Transcription factor TFIID, C-terminal/DNA glycosylase, N-terminal (1);Beta2-adaptin/TATA-box binding, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.45994	0.1370	L	0.37800	1.135	0.58432	D	0.999999	B	0.33198	0.401	B	0.39258	0.295	T	0.50074	-0.8870	10	0.62326	D	0.03	-20.0179	17.2625	0.87073	0.0:0.0:1.0:0.0	.	269	Q6SJ96	TBPL2_HUMAN	I	269	ENSP00000247219:L269I	ENSP00000247219:L269I	L	-	1	0	TBPL2	54965429	1.000000	0.71417	0.986000	0.45419	0.994000	0.84299	5.281000	0.65609	2.542000	0.85734	0.563000	0.77884	CTT	TBPL2	-	pfam_TBP		0.438	TBPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TBPL2	HGNC	protein_coding	OTTHUMT00000276916.1	G	NM_199047		55895676	-1	no_errors	ENST00000247219	ensembl	human	known	70_37	missense	SNP	1.000	T
TCHHL1	126637	genome.wustl.edu	37	1	152059991	152059991	+	Frame_Shift_Del	DEL	T	T	-			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr1:152059991delT	ENST00000368806.1	-	3	231	c.167delA	c.(166-168)aatfs	p.N56fs		NM_001008536.1	NP_001008536.1	Q5QJ38	TCHL1_HUMAN	trichohyalin-like 1	56	EF-hand.						calcium ion binding (GO:0005509)			breast(4)|endometrium(1)|kidney(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(1)|skin(7)|stomach(1)	60	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.246)			AAGATTTGAATTTTTTTCCAC	0.368																																																	0													48.0	46.0	47.0					1																	152059991		2203	4300	6503	SO:0001589	frameshift_variant	126637				CCDS30857.1	1q21.3	2011-10-11	2004-10-05	2006-01-27	ENSG00000182898	ENSG00000182898		"""S100 calcium binding proteins"""	31796	protein-coding gene	gene with protein product			"""S100 calcium binding protein A17"""	S100A17, THHL1			Standard	NM_001008536		Approved		uc001ezo.1	Q5QJ38	OTTHUMG00000013058	ENST00000368806.1:c.167delA	1.37:g.152059991delT	ENSP00000357796:p.Asn56fs	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RPK8|Q5VTJ9	Frame_Shift_Del	DEL	pfam_S100_Ca-bd_sub	p.N56fs	ENST00000368806.1	37	c.167	CCDS30857.1	1																																																																																			TCHHL1	-	NULL		0.368	TCHHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TCHHL1	HGNC	protein_coding	OTTHUMT00000036638.2	T	XM_060104		152059991	-1	no_errors	ENST00000368806	ensembl	human	known	70_37	frame_shift_del	DEL	0.002	-
TCHP	84260	genome.wustl.edu	37	12	110348891	110348891	+	Missense_Mutation	SNP	G	G	T			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr12:110348891G>T	ENST00000312777.5	+	9	1117	c.903G>T	c.(901-903)caG>caT	p.Q301H	TCHP_ENST00000405876.4_Missense_Mutation_p.Q301H	NM_032300.4	NP_115676.1			trichoplein, keratin filament binding											NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)|skin(2)	22						GGATCCTGCAGGCCCTCCTCG	0.657																																																	0													12.0	13.0	13.0					12																	110348891		2194	4281	6475	SO:0001583	missense	84260			AK092736	CCDS9137.1	12q24.11	2011-08-25	2006-01-27			ENSG00000139437			28135	protein-coding gene	gene with protein product	"""mitostatin"""	612654				15731013, 20930847	Standard	NM_032300		Approved	MGC10854, TpMs	uc001tpn.3	Q9BT92		ENST00000312777.5:c.903G>T	12.37:g.110348891G>T	ENSP00000324404:p.Gln301His	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	NULL	p.Q301H	ENST00000312777.5	37	c.903	CCDS9137.1	12	.	.	.	.	.	.	.	.	.	.	G	13.97	2.396320	0.42512	.	.	ENSG00000139437	ENST00000405876;ENST00000312777	T;T	0.10573	2.86;2.86	5.27	4.38	0.52667	.	0.322771	0.30510	N	0.009466	T	0.22936	0.0554	M	0.63428	1.95	0.80722	D	1	D	0.64830	0.994	P	0.61201	0.885	T	0.00842	-1.1544	10	0.62326	D	0.03	-21.7476	7.013	0.24873	0.0881:0.0:0.7416:0.1703	.	301	Q9BT92	TCHP_HUMAN	H	301	ENSP00000384520:Q301H;ENSP00000324404:Q301H	ENSP00000324404:Q301H	Q	+	3	2	TCHP	108833274	1.000000	0.71417	1.000000	0.80357	0.205000	0.24178	2.499000	0.45372	1.223000	0.43536	0.561000	0.74099	CAG	TCHP	-	NULL		0.657	TCHP-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	TCHP	HGNC	protein_coding	OTTHUMT00000403289.1	G	NM_032300		110348891	+1	no_errors	ENST00000312777	ensembl	human	known	70_37	missense	SNP	1.000	T
TCTEX1D2	255758	genome.wustl.edu	37	3	196042995	196042995	+	Missense_Mutation	SNP	G	G	A			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr3:196042995G>A	ENST00000325318.5	-	2	356	c.221C>T	c.(220-222)tCa>tTa	p.S74L	TM4SF19-AS1_ENST00000420226.1_RNA|TM4SF19_ENST00000442633.1_3'UTR|TM4SF19-AS1_ENST00000452051.1_RNA|TM4SF19-AS1_ENST00000444939.1_RNA|RP11-447L10.1_ENST00000431391.1_Missense_Mutation_p.S74L	NM_152773.4	NP_689986.2	Q8WW35	TC1D2_HUMAN	Tctex1 domain containing 2	74										breast(1)|kidney(1)|large_intestine(3)|lung(1)|ovary(1)	7	all_cancers(143;1.19e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;3.94e-24)|all cancers(36;2.79e-22)|OV - Ovarian serous cystadenocarcinoma(49;8.53e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00314)		AATGTTTTCTGATAAATGTTT	0.393																																																	0													119.0	110.0	113.0					3																	196042995		2203	4300	6503	SO:0001583	missense	255758			BC021177	CCDS33929.1	3q29	2010-07-19			ENSG00000213123	ENSG00000213123			28482	protein-coding gene	gene with protein product						12477932	Standard	NM_152773		Approved	MGC33212	uc003fwi.3	Q8WW35	OTTHUMG00000155672	ENST00000325318.5:c.221C>T	3.37:g.196042995G>A	ENSP00000324323:p.Ser74Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NCN5	Missense_Mutation	SNP	pfam_Tctex	p.S74L	ENST00000325318.5	37	c.221	CCDS33929.1	3	.	.	.	.	.	.	.	.	.	.	G	23.7	4.443109	0.83993	.	.	ENSG00000213123	ENST00000325318;ENST00000545438	T	0.28666	1.6	5.56	4.69	0.59074	.	0.120685	0.33753	U	0.004588	T	0.51109	0.1655	M	0.87682	2.9	0.80722	D	1	P	0.47253	0.892	P	0.52031	0.688	T	0.59434	-0.7455	10	0.72032	D	0.01	0.0105	12.076	0.53644	0.0834:0.0:0.9166:0.0	.	74	Q8WW35	TC1D2_HUMAN	L	74	ENSP00000324323:S74L	ENSP00000324323:S74L	S	-	2	0	TCTEX1D2	197527392	1.000000	0.71417	0.908000	0.35775	0.969000	0.65631	6.379000	0.73154	1.338000	0.45544	0.561000	0.74099	TCA	TCTEX1D2	-	pfam_Tctex		0.393	TCTEX1D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TCTEX1D2	HGNC	protein_coding	OTTHUMT00000341166.1	G	NM_152773		196042995	-1	no_errors	ENST00000325318	ensembl	human	known	70_37	missense	SNP	1.000	A
TCTEX1D2	255758	genome.wustl.edu	37	3	196043091	196043091	+	Missense_Mutation	SNP	G	G	A			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr3:196043091G>A	ENST00000325318.5	-	2	260	c.125C>T	c.(124-126)tCt>tTt	p.S42F	TM4SF19-AS1_ENST00000420226.1_RNA|TM4SF19_ENST00000442633.1_3'UTR|TM4SF19-AS1_ENST00000452051.1_RNA|TM4SF19-AS1_ENST00000444939.1_RNA|RP11-447L10.1_ENST00000431391.1_Missense_Mutation_p.S42F	NM_152773.4	NP_689986.2	Q8WW35	TC1D2_HUMAN	Tctex1 domain containing 2	42										breast(1)|kidney(1)|large_intestine(3)|lung(1)|ovary(1)	7	all_cancers(143;1.19e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;3.94e-24)|all cancers(36;2.79e-22)|OV - Ovarian serous cystadenocarcinoma(49;8.53e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00314)		TTTAACCACAGAGGGCCTGAA	0.438																																																	0													86.0	78.0	80.0					3																	196043091		2203	4300	6503	SO:0001583	missense	255758			BC021177	CCDS33929.1	3q29	2010-07-19			ENSG00000213123	ENSG00000213123			28482	protein-coding gene	gene with protein product						12477932	Standard	NM_152773		Approved	MGC33212	uc003fwi.3	Q8WW35	OTTHUMG00000155672	ENST00000325318.5:c.125C>T	3.37:g.196043091G>A	ENSP00000324323:p.Ser42Phe	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NCN5	Missense_Mutation	SNP	pfam_Tctex	p.S42F	ENST00000325318.5	37	c.125	CCDS33929.1	3	.	.	.	.	.	.	.	.	.	.	G	13.36	2.213497	0.39102	.	.	ENSG00000213123	ENST00000325318;ENST00000545438	T	0.25579	1.79	5.14	5.14	0.70334	.	0.246912	0.25732	U	0.028673	T	0.50051	0.1593	M	0.77313	2.365	0.80722	D	1	D	0.54964	0.969	P	0.61477	0.889	T	0.52540	-0.8562	10	0.54805	T	0.06	-1.1718	16.126	0.81395	0.0:0.0:1.0:0.0	.	42	Q8WW35	TC1D2_HUMAN	F	42	ENSP00000324323:S42F	ENSP00000324323:S42F	S	-	2	0	TCTEX1D2	197527488	0.988000	0.35896	0.994000	0.49952	0.034000	0.12701	4.571000	0.60879	2.368000	0.80403	0.561000	0.74099	TCT	TCTEX1D2	-	NULL		0.438	TCTEX1D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TCTEX1D2	HGNC	protein_coding	OTTHUMT00000341166.1	G	NM_152773		196043091	-1	no_errors	ENST00000325318	ensembl	human	known	70_37	missense	SNP	0.987	A
TENM1	10178	genome.wustl.edu	37	X	123518301	123518301	+	Silent	SNP	G	G	A			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chrX:123518301G>A	ENST00000371130.3	-	29	6522	c.6459C>T	c.(6457-6459)taC>taT	p.Y2153Y	STAG2_ENST00000469481.1_Intron|TENM1_ENST00000422452.2_Silent_p.Y2160Y	NM_014253.3	NP_055068.2	Q9UKZ4	TEN1_HUMAN	teneurin transmembrane protein 1	2153					immune response (GO:0006955)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neuropeptide signaling pathway (GO:0007218)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|response to stress (GO:0006950)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|nuclear matrix (GO:0016363)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)										CATCAGCATCGTATTCATAGA	0.413																																																	0													183.0	158.0	167.0					X																	123518301		2203	4300	6503	SO:0001819	synonymous_variant	10178			AF100772	CCDS14609.1, CCDS55488.1	Xq25	2012-10-02	2012-10-02	2012-10-02	ENSG00000009694	ENSG00000009694			8117	protein-coding gene	gene with protein product		300588	"""tenascin M"", ""odz, odd Oz/ten-m homolog 1 (Drosophila)"""	ODZ3, TNM, ODZ1		10331952, 10341219	Standard	NM_001163278		Approved	TEN-M1	uc010nqy.3	Q9UKZ4	OTTHUMG00000022721	ENST00000371130.3:c.6459C>T	X.37:g.123518301G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	B2RTR5|Q5JZ17	Silent	SNP	pfam_Ten_N,pfam_EGF_extracell,superfamily_CarboxyPept-like_regulatory,smart_EG-like_dom,pfscan_EG-like_dom,tigrfam_YD	p.Y2160	ENST00000371130.3	37	c.6480	CCDS14609.1	X																																																																																			TENM1	-	tigrfam_YD		0.413	TENM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TENM1	HGNC	protein_coding	OTTHUMT00000058985.1	G	NM_014253		123518301	-1	no_errors	ENST00000422452	ensembl	human	known	70_37	silent	SNP	0.359	A
TEP1	7011	genome.wustl.edu	37	14	20845581	20845581	+	Silent	SNP	T	T	A			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr14:20845581T>A	ENST00000262715.5	-	41	5986	c.5946A>T	c.(5944-5946)gtA>gtT	p.V1982V	TEP1_ENST00000556935.1_Silent_p.V1874V|TEP1_ENST00000545983.1_Silent_p.V320V	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	telomerase-associated protein 1	1982					RNA-dependent DNA replication (GO:0006278)|telomere maintenance via recombination (GO:0000722)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|ribonucleoprotein complex (GO:0030529)|telomerase holoenzyme complex (GO:0005697)	ATP binding (GO:0005524)|RNA binding (GO:0003723)			NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		CACTCACCAATACCTTGGGGC	0.587																																																	0													65.0	57.0	60.0					14																	20845581		2203	4300	6503	SO:0001819	synonymous_variant	7011				CCDS9548.1	14q11.2	2013-01-10			ENSG00000129566	ENSG00000129566		"""WD repeat domain containing"""	11726	protein-coding gene	gene with protein product	"""TROVE domain family, member 1"""	601686				9403057	Standard	NM_007110		Approved	TP1, TLP1, VAULT2, p240, TROVE1	uc001vxe.3	Q99973	OTTHUMG00000029515	ENST00000262715.5:c.5946A>T	14.37:g.20845581T>A		Somatic		WXS	Illumina HiSeq	Phase_IV	A0AUV9	Silent	SNP	pfam_TROVE,pfam_TEP1_N,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_NACHT_NTPase,pfscan_TROVE,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.V1982	ENST00000262715.5	37	c.5946	CCDS9548.1	14																																																																																			TEP1	-	superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom		0.587	TEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TEP1	HGNC	protein_coding	OTTHUMT00000073563.2	T	NM_007110		20845581	-1	no_errors	ENST00000262715	ensembl	human	known	70_37	silent	SNP	0.004	A
TEP1	7011	genome.wustl.edu	37	14	20852820	20852820	+	Missense_Mutation	SNP	C	C	T			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr14:20852820C>T	ENST00000262715.5	-	22	3200	c.3160G>A	c.(3160-3162)Gca>Aca	p.A1054T	TEP1_ENST00000556935.1_Missense_Mutation_p.A946T|TEP1_ENST00000545983.1_5'Flank	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	telomerase-associated protein 1	1054					RNA-dependent DNA replication (GO:0006278)|telomere maintenance via recombination (GO:0000722)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|ribonucleoprotein complex (GO:0030529)|telomerase holoenzyme complex (GO:0005697)	ATP binding (GO:0005524)|RNA binding (GO:0003723)			NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		ATCCGACGTGCGGCCTCTTCA	0.532																																																	0													117.0	127.0	124.0					14																	20852820		2203	4300	6503	SO:0001583	missense	7011				CCDS9548.1	14q11.2	2013-01-10			ENSG00000129566	ENSG00000129566		"""WD repeat domain containing"""	11726	protein-coding gene	gene with protein product	"""TROVE domain family, member 1"""	601686				9403057	Standard	NM_007110		Approved	TP1, TLP1, VAULT2, p240, TROVE1	uc001vxe.3	Q99973	OTTHUMG00000029515	ENST00000262715.5:c.3160G>A	14.37:g.20852820C>T	ENSP00000262715:p.Ala1054Thr	Somatic		WXS	Illumina HiSeq	Phase_IV	A0AUV9	Missense_Mutation	SNP	pfam_TROVE,pfam_TEP1_N,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_NACHT_NTPase,pfscan_TROVE,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.A1054T	ENST00000262715.5	37	c.3160	CCDS9548.1	14	.	.	.	.	.	.	.	.	.	.	C	12.59	1.983429	0.35036	.	.	ENSG00000129566	ENST00000262715;ENST00000359243;ENST00000556935	T;T	0.20069	2.1;2.1	5.2	3.33	0.38152	.	0.105660	0.64402	N	0.000007	T	0.20129	0.0484	M	0.77616	2.38	0.45272	D	0.998277	B;B;B	0.31318	0.319;0.309;0.213	B;B;B	0.22386	0.039;0.034;0.018	T	0.03555	-1.1025	10	0.28530	T	0.3	-2.485	6.1297	0.20199	0.1533:0.6824:0.0:0.1643	.	946;404;1054	G3V5X7;G3V2A4;Q99973	.;.;TEP1_HUMAN	T	1054;1054;946	ENSP00000262715:A1054T;ENSP00000452574:A946T	ENSP00000262715:A1054T	A	-	1	0	TEP1	19922660	0.988000	0.35896	0.357000	0.25798	0.887000	0.51463	2.046000	0.41260	0.543000	0.28864	0.561000	0.74099	GCA	TEP1	-	NULL		0.532	TEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TEP1	HGNC	protein_coding	OTTHUMT00000073563.2	C	NM_007110		20852820	-1	no_errors	ENST00000262715	ensembl	human	known	70_37	missense	SNP	0.398	T
TEP1	7011	genome.wustl.edu	37	14	20859825	20859825	+	Missense_Mutation	SNP	C	C	T			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr14:20859825C>T	ENST00000262715.5	-	13	2070	c.2030G>A	c.(2029-2031)cGc>cAc	p.R677H	TEP1_ENST00000556935.1_Missense_Mutation_p.R569H	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	telomerase-associated protein 1	677					RNA-dependent DNA replication (GO:0006278)|telomere maintenance via recombination (GO:0000722)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|ribonucleoprotein complex (GO:0030529)|telomerase holoenzyme complex (GO:0005697)	ATP binding (GO:0005524)|RNA binding (GO:0003723)			NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		CAAGACAGTGCGGCCTGGCAG	0.527																																																	0													151.0	132.0	138.0					14																	20859825		2203	4300	6503	SO:0001583	missense	7011				CCDS9548.1	14q11.2	2013-01-10			ENSG00000129566	ENSG00000129566		"""WD repeat domain containing"""	11726	protein-coding gene	gene with protein product	"""TROVE domain family, member 1"""	601686				9403057	Standard	NM_007110		Approved	TP1, TLP1, VAULT2, p240, TROVE1	uc001vxe.3	Q99973	OTTHUMG00000029515	ENST00000262715.5:c.2030G>A	14.37:g.20859825C>T	ENSP00000262715:p.Arg677His	Somatic		WXS	Illumina HiSeq	Phase_IV	A0AUV9	Missense_Mutation	SNP	pfam_TROVE,pfam_TEP1_N,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_NACHT_NTPase,pfscan_TROVE,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.R677H	ENST00000262715.5	37	c.2030	CCDS9548.1	14	.	.	.	.	.	.	.	.	.	.	C	21.3	4.129797	0.77549	.	.	ENSG00000129566	ENST00000262715;ENST00000359243;ENST00000556935	T;T	0.52526	0.67;0.66	4.57	4.57	0.56435	.	0.182174	0.47093	D	0.000244	T	0.65344	0.2682	M	0.67953	2.075	0.80722	D	1	D;D;D	0.89917	0.999;1.0;0.999	D;D;P	0.85130	0.951;0.997;0.894	T	0.68040	-0.5514	10	0.72032	D	0.01	-15.8819	13.0483	0.58939	0.0:1.0:0.0:0.0	.	569;27;677	G3V5X7;G3V2A4;Q99973	.;.;TEP1_HUMAN	H	677;677;569	ENSP00000262715:R677H;ENSP00000452574:R569H	ENSP00000262715:R677H	R	-	2	0	TEP1	19929665	1.000000	0.71417	1.000000	0.80357	0.887000	0.51463	2.164000	0.42387	2.533000	0.85409	0.462000	0.41574	CGC	TEP1	-	NULL		0.527	TEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TEP1	HGNC	protein_coding	OTTHUMT00000073563.2	C	NM_007110		20859825	-1	no_errors	ENST00000262715	ensembl	human	known	70_37	missense	SNP	1.000	T
TET3	200424	genome.wustl.edu	37	2	74275303	74275303	+	Silent	SNP	C	C	T			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr2:74275303C>T	ENST00000409262.3	+	1	1854	c.1854C>T	c.(1852-1854)tcC>tcT	p.S618S		NM_144993.1	NP_659430.1	O43151	TET3_HUMAN	tet methylcytosine dioxygenase 3	618					DNA demethylation (GO:0080111)|DNA demethylation of male pronucleus (GO:0044727)|histone H3-K4 trimethylation (GO:0080182)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein O-linked glycosylation (GO:0006493)	cytoplasm (GO:0005737)|female pronucleus (GO:0001939)|male pronucleus (GO:0001940)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|methylcytosine dioxygenase activity (GO:0070579)			NS(1)|breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						CTACCCGTTCCCCCAAGCAAA	0.592																																																	0													33.0	40.0	38.0					2																	74275303		1927	4132	6059	SO:0001819	synonymous_variant	200424				CCDS46339.1, CCDS46339.2	2p13.1	2011-09-30	2011-09-30		ENSG00000187605	ENSG00000187605			28313	protein-coding gene	gene with protein product		613555	"""tet oncogene family member 3"""			9455477	Standard	XM_005264187		Approved	MGC22014, hCG_40738	uc031roi.1	O43151	OTTHUMG00000152823	ENST00000409262.3:c.1854C>T	2.37:g.74275303C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A6NEI3|Q86Z24|Q8TBM9	Silent	SNP	NULL	p.S618	ENST00000409262.3	37	c.1854	CCDS46339.1	2																																																																																			TET3	-	NULL		0.592	TET3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	TET3	HGNC	protein_coding	OTTHUMT00000328141.4	C			74275303	+1	no_errors	ENST00000409262	ensembl	human	known	70_37	silent	SNP	1.000	T
TEX30	93081	genome.wustl.edu	37	13	103420662	103420662	+	Splice_Site	SNP	C	C	G			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr13:103420662C>G	ENST00000376032.4	-	4	436		c.e4-1		TEX30_ENST00000487260.1_Splice_Site|TEX30_ENST00000376022.1_Splice_Site|TEX30_ENST00000376027.1_Splice_Site|TEX30_ENST00000376019.1_Splice_Site|TEX30_ENST00000376029.3_Splice_Site|TEX30_ENST00000376021.4_Splice_Site	NM_138779.3	NP_620134.3	Q5JUR7	TEX30_HUMAN	testis expressed 30											lung(1)|urinary_tract(1)	2						TCAGGTAATTCTAGAAAAATA	0.299																																																	0													52.0	61.0	58.0					13																	103420662		2202	4289	6491	SO:0001630	splice_region_variant	93081			AF070559	CCDS9503.2, CCDS66577.1, CCDS66578.1	13q33.1	2012-02-09	2012-02-09	2012-02-09	ENSG00000151287	ENSG00000151287			25188	protein-coding gene	gene with protein product			"""chromosome 13 open reading frame 27"""	C13orf27			Standard	XM_005254097		Approved		uc001vpo.3	Q5JUR7	OTTHUMG00000017306	ENST00000376032.4:c.247-1G>C	13.37:g.103420662C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	Q5JUR8|Q96KZ8	Splice_Site	SNP	-	e3-1	ENST00000376032.4	37	c.247-1	CCDS9503.2	13	.	.	.	.	.	.	.	.	.	.	C	11.88	1.771153	0.31320	.	.	ENSG00000151287	ENST00000376027;ENST00000376019;ENST00000376022;ENST00000376021;ENST00000376032;ENST00000376029	.	.	.	4.83	3.97	0.46021	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	10.441	0.44466	0.0:0.8428:0.0:0.1572	.	.	.	.	.	-1	.	.	.	-	.	.	C13orf27	102218663	1.000000	0.71417	0.998000	0.56505	0.577000	0.36160	5.341000	0.65964	2.359000	0.80004	0.557000	0.71058	.	TEX30	-	-		0.299	TEX30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TEX30	HGNC	protein_coding	OTTHUMT00000045691.4	C	NM_138779	Intron	103420662	-1	no_errors	ENST00000376032	ensembl	human	known	70_37	splice_site	SNP	0.998	G
TFE3	7030	genome.wustl.edu	37	X	48895555	48895555	+	Missense_Mutation	SNP	C	C	T			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chrX:48895555C>T	ENST00000315869.7	-	5	1124	c.865G>A	c.(865-867)Gga>Aga	p.G289R	TFE3_ENST00000487451.1_5'UTR	NM_006521.4	NP_006512.2	P19532	TFE3_HUMAN	transcription factor binding to IGHM enhancer 3	289					humoral immune response (GO:0006959)|positive regulation of cell adhesion (GO:0045785)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of osteoclast differentiation (GO:0045670)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)		NONO/TFE3(2)|PRCC/TFE3(25)|SFPQ/TFE3(6)|CLTC/TFE3(2)|ASPSCR1/TFE3(167)	central_nervous_system(1)	1						AGCTGCAGTCCTGTGGTGCCT	0.502			T	"""SFPQ, ASPSCR1, PRCC, NONO, CLTC"""	"""papillary renal, alveolar soft part sarcoma, renal"""																																			Dom	yes		X	Xp11.22	7030	transcription factor binding to IGHM enhancer 3		E	0													66.0	43.0	50.0					X																	48895555		2202	4299	6501	SO:0001583	missense	7030			X96717	CCDS14315.3	Xp11.22	2013-05-21			ENSG00000068323	ENSG00000068323		"""Basic helix-loop-helix proteins"""	11752	protein-coding gene	gene with protein product	transcription factor E family, member A	314310				1672758, 1685140	Standard	NM_006521		Approved	TFEA, bHLHe33	uc004dmb.3	P19532	OTTHUMG00000022690	ENST00000315869.7:c.865G>A	X.37:g.48895555C>T	ENSP00000314129:p.Gly289Arg	Somatic		WXS	Illumina HiSeq	Phase_IV	A8MZL6|Q5JU74|Q92757|Q92758|Q99964	Missense_Mutation	SNP	pfam_bHLH_ZIP_TF_MiT/TFE,pfam_HLH_dom,superfamily_HLH_dom,smart_HLH_dom,pfscan_HLH_dom	p.G289R	ENST00000315869.7	37	c.865	CCDS14315.3	X	.	.	.	.	.	.	.	.	.	.	c	21.9	4.209766	0.79240	.	.	ENSG00000068323	ENST00000315869	T	0.14640	2.49	5.89	5.89	0.94794	.	0.050565	0.85682	D	0.000000	T	0.15478	0.0373	L	0.35341	1.055	0.58432	D	0.999995	P	0.50943	0.94	P	0.47134	0.539	T	0.01468	-1.1347	10	0.36615	T	0.2	-18.792	13.5319	0.61627	0.0:0.8477:0.1523:0.0	.	289	P19532	TFE3_HUMAN	R	289	ENSP00000314129:G289R	ENSP00000314129:G289R	G	-	1	0	TFE3	48782499	0.109000	0.22037	0.521000	0.27850	0.931000	0.56810	3.973000	0.56845	2.488000	0.83962	0.509000	0.49947	GGA	TFE3	-	NULL		0.502	TFE3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TFE3	HGNC	protein_coding	OTTHUMT00000058872.2	C	NM_006521		48895555	-1	no_errors	ENST00000315869	ensembl	human	known	70_37	missense	SNP	0.991	T
TGFBR3L	100507588	genome.wustl.edu	37	19	7982967	7982967	+	Silent	SNP	G	G	A			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr19:7982967G>A	ENST00000565886.1	+	5	1032	c.909G>A	c.(907-909)gcG>gcA	p.A303A	SNAPC2_ENST00000221573.6_5'Flank|SNAPC2_ENST00000597584.1_5'Flank|TGFBR3L_ENST00000564348.1_3'UTR|CTD-3193O13.1_ENST00000564226.1_RNA	NM_001195259.1	NP_001182188.1	H3BV60	TGR3L_HUMAN	transforming growth factor, beta receptor III-like	303						integral component of membrane (GO:0016021)											GCCCGCCCGCGAGAGCCTCGC	0.711																																																	0																																										SO:0001819	synonymous_variant	100507588				CCDS58648.1	19p13.2	2014-02-12	2012-07-02		ENSG00000260001	ENSG00000260001			44152	protein-coding gene	gene with protein product							Standard	NM_001195259		Approved		uc021uoa.1	H3BV60	OTTHUMG00000175717	ENST00000565886.1:c.909G>A	19.37:g.7982967G>A		Somatic		WXS	Illumina HiSeq	Phase_IV		Silent	SNP	pfam_ZP_dom	p.A303	ENST00000565886.1	37	c.909	CCDS58648.1	19																																																																																			TGFBR3L	-	NULL		0.711	TGFBR3L-002	KNOWN	basic|appris_principal|CCDS	protein_coding	TGFBR3L	HGNC	protein_coding	OTTHUMT00000436180.1	G	NM_001195259		7982967	+1	no_errors	ENST00000565886	ensembl	human	putative	70_37	silent	SNP	0.000	A
TGIF2LX	90316	genome.wustl.edu	37	X	89177089	89177089	+	Missense_Mutation	SNP	A	A	G			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chrX:89177089A>G	ENST00000561129.2	+	1	135	c.5A>G	c.(4-6)gAg>gGg	p.E2G	TGIF2LX_ENST00000283891.5_Missense_Mutation_p.E2G			Q8IUE1	TF2LX_HUMAN	TGFB-induced factor homeobox 2-like, X-linked	2					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(29)|ovary(1)|skin(3)|urinary_tract(1)	40						TGGAATATGGAGGCCGCTGCG	0.532																																																	0													38.0	46.0	44.0					X																	89177089		2201	4300	6501	SO:0001583	missense	90316			AF497480	CCDS14459.1	Xq21.31	2014-05-14	2007-02-07		ENSG00000153779	ENSG00000153779		"""Homeoboxes / TALE class"""	18570	protein-coding gene	gene with protein product		300411	"""TGFB-induced factor 2-like, X-linked"""				Standard	NM_138960		Approved		uc004efe.3	Q8IUE1	OTTHUMG00000021954	ENST00000561129.2:c.5A>G	X.37:g.89177089A>G	ENSP00000453704:p.Glu2Gly	Somatic		WXS	Illumina HiSeq	Phase_IV	Q5JRM9|Q8TD48	Missense_Mutation	SNP	pfam_Homeodomain,pfam_Homeobox_KN_domain,superfamily_Homeodomain-like,smart_Homeodomain,pfscan_Homeodomain	p.E2G	ENST00000561129.2	37	c.5	CCDS14459.1	X	.	.	.	.	.	.	.	.	.	.	A	12.55	1.971045	0.34754	.	.	ENSG00000153779	ENST00000283891	T	0.66280	-0.2	2.42	1.19	0.21007	.	.	.	.	.	T	0.68476	0.3005	L	0.55481	1.735	0.09310	N	1	D	0.71674	0.998	D	0.70227	0.968	T	0.54410	-0.8298	8	.	.	.	.	4.9181	0.13856	0.6823:0.3177:0.0:0.0	.	2	Q8IUE1	TF2LX_HUMAN	G	2	ENSP00000355119:E2G	.	E	+	2	0	TGIF2LX	89063745	0.640000	0.27243	0.082000	0.20525	0.004000	0.04260	1.336000	0.33850	0.237000	0.21200	-0.531000	0.04308	GAG	TGIF2LX	-	NULL		0.532	TGIF2LX-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	TGIF2LX	HGNC	protein_coding	OTTHUMT00000417911.2	A	NM_138960		89177089	+1	no_errors	ENST00000283891	ensembl	human	known	70_37	missense	SNP	0.081	G
THADA	63892	genome.wustl.edu	37	2	43458382	43458382	+	Nonsense_Mutation	SNP	G	G	C			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr2:43458382G>C	ENST00000405006.4	-	38	5918	c.5567C>G	c.(5566-5568)tCa>tGa	p.S1856*	THADA_ENST00000415080.2_Nonsense_Mutation_p.S1537*|THADA_ENST00000330266.7_Intron|THADA_ENST00000405975.2_Nonsense_Mutation_p.S1856*|AC010883.5_ENST00000423354.1_RNA	NM_001083953.1|NM_001271643.1	NP_001077422.1|NP_001258572.1	Q6YHU6	THADA_HUMAN	thyroid adenoma associated	1856								p.S1856*(1)		breast(1)|endometrium(9)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	66		Acute lymphoblastic leukemia(82;0.00361)|all_hematologic(82;0.00837)				GCCGGACTTTGAGAGGAGACA	0.512																																																	1	Substitution - Nonsense(1)	urinary_tract(1)											37.0	39.0	38.0					2																	43458382		1930	4133	6063	SO:0001587	stop_gained	63892			AY149629	CCDS46268.1, CCDS62901.1, CCDS62902.1	2p21	2008-02-05			ENSG00000115970	ENSG00000115970			19217	protein-coding gene	gene with protein product		611800				12063398, 11214970	Standard	NM_022065		Approved	FLJ21877, KIAA1767, GITA	uc002rsx.4	Q6YHU6	OTTHUMG00000152398	ENST00000405006.4:c.5567C>G	2.37:g.43458382G>C	ENSP00000385995:p.Ser1856*	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K1V8|B7WNS6|Q3KR04|Q53RC6|Q53TB2|Q6YHU2|Q6ZU38|Q8IY32|Q8TAU8|Q96I88|Q9BZF7|Q9C096|Q9H6U0|Q9H6W7	Nonsense_Mutation	SNP	pfam_DUF2428_death-receptor-like,superfamily_ARM-type_fold	p.S1856*	ENST00000405006.4	37	c.5567	CCDS46268.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	22.4|22.4	4.286030|4.286030	0.80803|0.80803	.|.	.|.	ENSG00000115970|ENSG00000115970	ENST00000407351|ENST00000405975;ENST00000356975;ENST00000415080;ENST00000405006	.|.	.|.	.|.	4.64|4.64	2.73|2.73	0.32206|0.32206	.|.	.|0.768041	.|0.11907	.|N	.|0.518013	T|.	0.57330|.	0.2046|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.49062|.	-0.8978|.	4|.	.|0.27785	.|T	.|0.31	-26.4041|-26.4041	10.499|10.499	0.44794|0.44794	0.0:0.3201:0.5562:0.1237|0.0:0.3201:0.5562:0.1237	.|.	.|.	.|.	.|.	E|X	1096|1856;1783;1537;1856	.|.	.|ENSP00000349464:S1783X	Q|S	-|-	1|2	0|0	THADA|THADA	43311886|43311886	0.017000|0.017000	0.18338|0.18338	0.301000|0.301000	0.25044|0.25044	0.124000|0.124000	0.20399|0.20399	1.430000|1.430000	0.34914|0.34914	1.142000|1.142000	0.42291|0.42291	0.655000|0.655000	0.94253|0.94253	CAA|TCA	THADA	-	NULL		0.512	THADA-002	KNOWN	basic|appris_principal|CCDS	protein_coding	THADA	HGNC	protein_coding	OTTHUMT00000326070.3	G	NM_022065		43458382	-1	no_errors	ENST00000405006	ensembl	human	known	70_37	nonsense	SNP	0.002	C
THOP1	7064	genome.wustl.edu	37	19	2810715	2810715	+	Missense_Mutation	SNP	G	G	A			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr19:2810715G>A	ENST00000307741.6	+	11	1923	c.1720G>A	c.(1720-1722)Gag>Aag	p.E574K	THOP1_ENST00000395212.4_Missense_Mutation_p.E85K|THOP1_ENST00000586677.1_Missense_Mutation_p.E453K	NM_003249.3	NP_003240.1	P52888	THOP1_HUMAN	thimet oligopeptidase 1	574					intracellular signal transduction (GO:0035556)|peptide metabolic process (GO:0006518)	cytoplasm (GO:0005737)	metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)|peptide binding (GO:0042277)			NS(1)|central_nervous_system(1)|endometrium(1)|lung(8)|ovary(2)|skin(1)	14				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		AGACCCCGCCGAGGAGTATGC	0.682																																																	0													22.0	19.0	20.0					19																	2810715		2184	4287	6471	SO:0001583	missense	7064				CCDS12095.1	19p13.3	2008-02-05				ENSG00000172009	3.4.24.15		11793	protein-coding gene	gene with protein product		601117				9790774	Standard	NM_003249		Approved		uc002lwj.3	P52888		ENST00000307741.6:c.1720G>A	19.37:g.2810715G>A	ENSP00000304467:p.Glu574Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	B3KSE2|Q9UCB3	Missense_Mutation	SNP	pfam_Pept_M3A_M3B	p.E574K	ENST00000307741.6	37	c.1720	CCDS12095.1	19	.	.	.	.	.	.	.	.	.	.	G	7.469	0.646291	0.14451	.	.	ENSG00000172009	ENST00000307741;ENST00000395212	T;T	0.12465	3.05;2.68	3.97	1.42	0.22433	Neurolysin/Thimet oligopeptidase, domain 2 (1);	0.397332	0.26304	N	0.025143	T	0.08179	0.0204	N	0.16233	0.39	0.30863	N	0.733299	B;B;B	0.23128	0.001;0.08;0.001	B;B;B	0.24269	0.003;0.052;0.002	T	0.09773	-1.0659	10	0.59425	D	0.04	-18.5281	8.7569	0.34650	0.1026:0.254:0.6434:0.0	.	453;85;574	B4DU96;B3KSE2;P52888	.;.;THOP1_HUMAN	K	574;85	ENSP00000304467:E574K;ENSP00000378638:E85K	ENSP00000304467:E574K	E	+	1	0	THOP1	2761715	1.000000	0.71417	0.026000	0.17262	0.211000	0.24417	4.095000	0.57728	0.649000	0.30751	0.555000	0.69702	GAG	THOP1	-	pfam_Pept_M3A_M3B		0.682	THOP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	THOP1	HGNC	protein_coding	OTTHUMT00000451587.2	G			2810715	+1	no_errors	ENST00000307741	ensembl	human	known	70_37	missense	SNP	0.318	A
TIA1	7072	genome.wustl.edu	37	2	70454926	70454926	+	Silent	SNP	G	G	T			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr2:70454926G>T	ENST00000433529.2	-	6	549	c.339C>A	c.(337-339)ctC>ctA	p.L113L	TIA1_ENST00000416149.2_Silent_p.L113L|TIA1_ENST00000282574.4_Silent_p.L113L|TIA1_ENST00000415783.2_Silent_p.L102L|TIA1_ENST00000445587.1_Silent_p.L102L|C2orf42_ENST00000470096.1_Intron	NM_022173.2	NP_071505.2	P31483	TIA1_HUMAN	TIA1 cytotoxic granule-associated RNA binding protein	113	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				apoptotic process (GO:0006915)|negative regulation of cytokine biosynthetic process (GO:0042036)|negative regulation of translation (GO:0017148)|regulation of mRNA splicing, via spliceosome (GO:0048024)	cytoplasmic stress granule (GO:0010494)|nuclear stress granule (GO:0097165)	AU-rich element binding (GO:0017091)|nucleotide binding (GO:0000166)|poly(A) binding (GO:0008143)|poly(A) RNA binding (GO:0044822)			endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|skin(1)|urinary_tract(1)	17						TTTCTGGGCTGAGATCACCAA	0.308																																																	0													83.0	88.0	86.0					2																	70454926		2203	4294	6497	SO:0001819	synonymous_variant	7072				CCDS1900.1, CCDS1901.1	2p13	2013-02-12	2001-11-28		ENSG00000116001	ENSG00000116001		"""RNA binding motif (RRM) containing"""	11802	protein-coding gene	gene with protein product	"""T-cell-restricted intracellular antigen-1"", ""nucleolysin TIA-1 isoform p40"""	603518	"""TIA1 cytotoxic granule-associated RNA-binding protein"""			8176212, 12486009	Standard	NM_022173		Approved		uc002sgj.4	P31483	OTTHUMG00000129644	ENST00000433529.2:c.339C>A	2.37:g.70454926G>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q53SS9	Nonsense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.S153*	ENST00000433529.2	37	c.458	CCDS1901.1	2	.	.	.	.	.	.	.	.	.	.	G	27.8	4.860694	0.91433	.	.	ENSG00000116001	ENST00000361692	.	.	.	5.08	5.08	0.68730	.	.	.	.	.	T	0.63698	0.2533	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.61098	-0.7131	4	.	.	.	-6.6302	11.6611	0.51347	0.0:0.1785:0.8215:0.0	.	.	.	.	K	94	.	.	Q	-	1	0	TIA1	70308430	0.999000	0.42202	1.000000	0.80357	0.998000	0.95712	0.556000	0.23438	2.642000	0.89623	0.650000	0.86243	CAG	TIA1	-	NULL		0.308	TIA1-001	KNOWN	basic|CCDS	protein_coding	TIA1	HGNC	protein_coding	OTTHUMT00000251842.2	G	NM_022037		70454926	-1	no_errors	ENST00000477044	ensembl	human	known	70_37	nonsense	SNP	1.000	T
TIMM44	10469	genome.wustl.edu	37	19	7997609	7997609	+	Missense_Mutation	SNP	G	G	A			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr19:7997609G>A	ENST00000270538.3	-	9	1158	c.890C>T	c.(889-891)tCg>tTg	p.S297L	TIMM44_ENST00000598968.1_5'Flank	NM_006351.3	NP_006342.2	O43615	TIM44_HUMAN	translocase of inner mitochondrial membrane 44 homolog (yeast)	297					cellular protein metabolic process (GO:0044267)|protein targeting to mitochondrion (GO:0006626)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|P-P-bond-hydrolysis-driven protein transmembrane transporter activity (GO:0015450)			NS(1)|endometrium(3)|kidney(3)|large_intestine(2)|liver(2)|lung(2)|ovary(2)|skin(1)|urinary_tract(1)	17						GAGCACCTCCGACATCTCTGT	0.647																																																	0													55.0	58.0	57.0					19																	7997609		2203	4300	6503	SO:0001583	missense	10469			AF026030	CCDS12192.1	19p13.3-p13.2	2008-07-04				ENSG00000104980			17316	protein-coding gene	gene with protein product		605058				10848612, 10339406	Standard	NM_006351		Approved	TIM44	uc002miz.3	O43615		ENST00000270538.3:c.890C>T	19.37:g.7997609G>A	ENSP00000270538:p.Ser297Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K0R9|D6W664|Q8N193	Missense_Mutation	SNP	pfam_Tim44-related/Ribosome_L45,smart_Tim44-related/Ribosome_L45,pirsf_Tim44,tigrfam_Tim44	p.S297L	ENST00000270538.3	37	c.890	CCDS12192.1	19	.	.	.	.	.	.	.	.	.	.	G	33	5.260123	0.95368	.	.	ENSG00000104980	ENST00000270538	T	0.77489	-1.1	5.07	5.07	0.68467	.	0.000000	0.85682	D	0.000000	D	0.87916	0.6298	M	0.78049	2.395	0.80722	D	1	D	0.89917	1.0	D	0.78314	0.991	D	0.89338	0.3652	10	0.87932	D	0	-9.492	16.2918	0.82756	0.0:0.0:1.0:0.0	.	297	O43615	TIM44_HUMAN	L	297	ENSP00000270538:S297L	ENSP00000270538:S297L	S	-	2	0	TIMM44	7903609	1.000000	0.71417	0.969000	0.41365	0.963000	0.63663	7.277000	0.78572	2.529000	0.85273	0.561000	0.74099	TCG	TIMM44	-	pfam_Tim44-related/Ribosome_L45,smart_Tim44-related/Ribosome_L45,pirsf_Tim44,tigrfam_Tim44		0.647	TIMM44-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	TIMM44	HGNC	protein_coding	OTTHUMT00000461596.3	G			7997609	-1	no_errors	ENST00000270538	ensembl	human	known	70_37	missense	SNP	0.999	A
TMBIM4	51643	genome.wustl.edu	37	12	66539731	66539731	+	Silent	SNP	G	G	A			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr12:66539731G>A	ENST00000358230.3	-	5	474	c.354C>T	c.(352-354)ttC>ttT	p.F118F	TMBIM4_ENST00000286424.7_Silent_p.F165F|TMBIM4_ENST00000544599.1_5'UTR|TMBIM4_ENST00000539652.1_Silent_p.F118F|TMBIM4_ENST00000556010.1_Silent_p.F118F|TMBIM4_ENST00000542724.1_Silent_p.F87F|TMBIM4_ENST00000398033.4_Silent_p.F118F	NM_016056.2	NP_057140.2	Q9HC24	LFG4_HUMAN	transmembrane BAX inhibitor motif containing 4	118					apoptotic process (GO:0006915)|negative regulation of apoptotic process (GO:0043066)|regulation of calcium-mediated signaling (GO:0050848)	Golgi stack (GO:0005795)|integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(1)|large_intestine(4)|ovary(1)|prostate(2)	9				GBM - Glioblastoma multiforme(28;0.0745)		ATACATCATAGAAAGTAACTG	0.294																																																	0													43.0	42.0	42.0					12																	66539731		1798	4053	5851	SO:0001819	synonymous_variant	51643			AF113127	CCDS41805.1, CCDS61187.1, CCDS73493.1	12q14.3	2014-05-09			ENSG00000155957	ENSG00000155957			24257	protein-coding gene	gene with protein product						11042152, 10810093	Standard	NM_001282609		Approved	CGI-119, S1R, ZPRO, LFG4, GAAP	uc001stc.3	Q9HC24	OTTHUMG00000168973	ENST00000358230.3:c.354C>T	12.37:g.66539731G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q542Z6|Q9UHY5|Q9Y3C2	Silent	SNP	pfam_Bax_inhibitor_1-related	p.F118	ENST00000358230.3	37	c.354	CCDS41805.1	12																																																																																			TMBIM4	-	pfam_Bax_inhibitor_1-related		0.294	TMBIM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMBIM4	HGNC	protein_coding	OTTHUMT00000401832.2	G	NM_016056		66539731	-1	no_errors	ENST00000358230	ensembl	human	known	70_37	silent	SNP	1.000	A
TMC1	117531	genome.wustl.edu	37	9	75420362	75420362	+	Missense_Mutation	SNP	T	T	G			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr9:75420362T>G	ENST00000297784.5	+	18	2171	c.1631T>G	c.(1630-1632)tTt>tGt	p.F544C	TMC1_ENST00000396237.3_Missense_Mutation_p.F544C|TMC1_ENST00000340019.3_Missense_Mutation_p.F544C|TMC1_ENST00000486417.1_3'UTR	NM_138691.2	NP_619636.2	Q8TDI8	TMC1_HUMAN	transmembrane channel-like 1	544					auditory receptor cell development (GO:0060117)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|vestibular reflex (GO:0060005)	external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|stereocilium bundle tip (GO:0032426)	voltage-gated calcium channel activity (GO:0005245)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(21)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	36						ATTGGGGACTTTCTAAGGGCA	0.378																																					Pancreas(75;173 1345 14232 34245 43413)												0													271.0	262.0	265.0					9																	75420362		2203	4300	6503	SO:0001583	missense	117531			AF417578	CCDS6643.1	9q21	2014-01-28			ENSG00000165091	ENSG00000165091			16513	protein-coding gene	gene with protein product		606706	"""transmembrane, cochlear expressed, 1"""	DFNA36, DFNB7, DFNB11		11850618, 11850623	Standard	NM_138691		Approved		uc004aiz.1	Q8TDI8	OTTHUMG00000020014	ENST00000297784.5:c.1631T>G	9.37:g.75420362T>G	ENSP00000297784:p.Phe544Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	A8MVZ2|B1AM91	Missense_Mutation	SNP	pfam_TMC	p.F544C	ENST00000297784.5	37	c.1631	CCDS6643.1	9	.	.	.	.	.	.	.	.	.	.	T	19.62	3.861995	0.71949	.	.	ENSG00000165091	ENST00000297784;ENST00000340019;ENST00000396235;ENST00000537917;ENST00000538054;ENST00000542143;ENST00000396237	T;T;T	0.67345	-0.26;-0.26;-0.26	6.08	4.93	0.64822	.	0.000000	0.85682	D	0.000000	T	0.79358	0.4432	M	0.69358	2.11	0.53688	D	0.999973	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	T	0.80462	-0.1372	10	0.66056	D	0.02	-19.2848	12.6739	0.56882	0.1239:0.0:0.0:0.8761	.	511;511;544	A5D8Y1;A4FUA6;Q8TDI8	.;.;TMC1_HUMAN	C	544;544;511;511;511;538;544	ENSP00000297784:F544C;ENSP00000341433:F544C;ENSP00000379538:F544C	ENSP00000297784:F544C	F	+	2	0	TMC1	74610182	1.000000	0.71417	1.000000	0.80357	0.836000	0.47400	7.628000	0.83189	1.094000	0.41399	-0.468000	0.05107	TTT	TMC1	-	pfam_TMC		0.378	TMC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMC1	HGNC	protein_coding	OTTHUMT00000052655.1	T			75420362	+1	no_errors	ENST00000297784	ensembl	human	known	70_37	missense	SNP	1.000	G
TMCO3	55002	genome.wustl.edu	37	13	114201654	114201654	+	Missense_Mutation	SNP	C	C	T			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr13:114201654C>T	ENST00000434316.2	+	11	2089	c.1730C>T	c.(1729-1731)aCg>aTg	p.T577M	TMCO3_ENST00000375391.1_Intron	NM_017905.4	NP_060375.4	Q6UWJ1	TMCO3_HUMAN	transmembrane and coiled-coil domains 3	577						integral component of membrane (GO:0016021)	solute:proton antiporter activity (GO:0015299)			NS(1)|endometrium(4)|large_intestine(9)|liver(1)|lung(8)|prostate(1)|stomach(1)	25	Lung NSC(43;0.0161)|all_neural(89;0.0337)|Hepatocellular(20;0.0877)|Medulloblastoma(90;0.163)|Lung SC(71;0.218)	all_cancers(25;0.0145)|all_epithelial(44;0.00286)|all_lung(25;0.0273)|Breast(118;0.0411)|Lung NSC(25;0.0983)	all cancers(43;0.0317)			TACGAGCTCACGGTGCTGGTG	0.597																																																	0													256.0	169.0	198.0					13																	114201654		2203	4300	6503	SO:0001583	missense	55002			BC012564	CCDS9537.1	13q34	2008-02-05	2005-07-22	2005-07-22	ENSG00000150403	ENSG00000150403			20329	protein-coding gene	gene with protein product			"""chromosome 13 open reading frame 11"""	C13orf11			Standard	NM_017905		Approved	FLJ20623	uc001vtu.4	Q6UWJ1	OTTHUMG00000017389	ENST00000434316.2:c.1730C>T	13.37:g.114201654C>T	ENSP00000389399:p.Thr577Met	Somatic		WXS	Illumina HiSeq	Phase_IV	Q5JSB1|Q6NUN1|Q8NG29|Q8TCI6|Q96EA6|Q9NWT2	Missense_Mutation	SNP	pfam_Cation/H_exchanger	p.T577M	ENST00000434316.2	37	c.1730	CCDS9537.1	13	.	.	.	.	.	.	.	.	.	.	C	18.37	3.608247	0.66558	.	.	ENSG00000150403	ENST00000434316	T	0.15603	2.41	4.78	3.9	0.45041	Cation/H+ exchanger (1);	0.237208	0.41823	D	0.000811	T	0.35799	0.0944	M	0.71581	2.175	0.80722	D	1	D	0.76494	0.999	P	0.59761	0.863	T	0.11567	-1.0582	10	0.41790	T	0.15	-20.6585	14.5856	0.68322	0.0:0.8528:0.1472:0.0	.	577	Q6UWJ1	TMCO3_HUMAN	M	577	ENSP00000389399:T577M	ENSP00000389399:T577M	T	+	2	0	TMCO3	113249655	0.990000	0.36364	0.137000	0.22149	0.429000	0.31625	3.048000	0.49862	0.951000	0.37770	0.456000	0.33151	ACG	TMCO3	-	pfam_Cation/H_exchanger		0.597	TMCO3-007	KNOWN	basic|appris_principal|CCDS	protein_coding	TMCO3	HGNC	protein_coding	OTTHUMT00000045931.3	C	NM_017905		114201654	+1	no_errors	ENST00000434316	ensembl	human	known	70_37	missense	SNP	1.000	T
TMED1	11018	genome.wustl.edu	37	19	10945990	10945990	+	Nonsense_Mutation	SNP	C	C	A			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr19:10945990C>A	ENST00000214869.2	-	2	321	c.223G>T	c.(223-225)Gag>Tag	p.E75*	TMED1_ENST00000591695.1_Nonsense_Mutation_p.E75*|TMED1_ENST00000588289.1_5'UTR|C19orf38_ENST00000592854.1_5'Flank	NM_006858.2	NP_006849.1	Q13445	TMED1_HUMAN	transmembrane emp24 protein transport domain containing 1	75	GOLD. {ECO:0000255|PROSITE- ProRule:PRU00096}.				cell-cell signaling (GO:0007267)|protein transport (GO:0015031)|signal transduction (GO:0007165)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)			breast(1)|central_nervous_system(2)|lung(2)|ovary(3)|prostate(1)|skin(1)	10						TGAGGGCTCTCCAGCGTGAAG	0.637																																																	0													126.0	99.0	108.0					19																	10945990		2203	4300	6503	SO:0001587	stop_gained	11018			U41804	CCDS12249.1	19p13.2	2008-02-05	2005-08-26			ENSG00000099203			17291	protein-coding gene	gene with protein product		605395	"""transmembrane emp24 domain containing 1"""			11466339, 8621446	Standard	NM_006858		Approved	ST2L, MGC1270, IL1RL1LG, Il1rl1l	uc002mpy.3	Q13445		ENST00000214869.2:c.223G>T	19.37:g.10945990C>A	ENSP00000214869:p.Glu75*	Somatic		WXS	Illumina HiSeq	Phase_IV		Nonsense_Mutation	SNP	pfam_GOLD,superfamily_GOLD,pfscan_GOLD	p.E75*	ENST00000214869.2	37	c.223	CCDS12249.1	19	.	.	.	.	.	.	.	.	.	.	C	37	6.297009	0.97453	.	.	ENSG00000099203	ENST00000214869	.	.	.	5.5	4.47	0.54385	.	0.402566	0.27691	N	0.018260	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.06757	T	0.87	0.012	9.7771	0.40626	0.0:0.8393:0.0:0.1607	.	.	.	.	X	75	.	ENSP00000214869:E75X	E	-	1	0	TMED1	10806990	0.999000	0.42202	0.998000	0.56505	0.995000	0.86356	0.765000	0.26546	1.316000	0.45131	0.561000	0.74099	GAG	TMED1	-	pfam_GOLD,superfamily_GOLD,pfscan_GOLD		0.637	TMED1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMED1	HGNC	protein_coding	OTTHUMT00000452614.1	C	NM_006858		10945990	-1	no_errors	ENST00000214869	ensembl	human	known	70_37	nonsense	SNP	1.000	A
POR	5447	genome.wustl.edu	37	7	75616592	75616592	+	IGR	SNP	G	G	A			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr7:75616592G>A	ENST00000461988.1	+	0	2522				TMEM120A_ENST00000493111.2_RNA|TMEM120A_ENST00000338761.4_RNA	NM_000941.2	NP_000932.3	P16435	NCPR_HUMAN	P450 (cytochrome) oxidoreductase						carnitine metabolic process (GO:0009437)|cellular organofluorine metabolic process (GO:0090346)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to peptide hormone stimulus (GO:0071375)|demethylation (GO:0070988)|fatty acid oxidation (GO:0019395)|flavonoid metabolic process (GO:0009812)|internal peptidyl-lysine acetylation (GO:0018393)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of lipase activity (GO:0060192)|nitrate catabolic process (GO:0043602)|nitric oxide catabolic process (GO:0046210)|oxidation-reduction process (GO:0055114)|positive regulation of cholesterol biosynthetic process (GO:0045542)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of monooxygenase activity (GO:0032770)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of steroid hormone biosynthetic process (GO:0090031)|regulation of growth plate cartilage chondrocyte proliferation (GO:0003420)|response to drug (GO:0042493)|response to nutrient (GO:0007584)	endoplasmic reticulum (GO:0005783)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|mitochondrion (GO:0005739)	cytochrome-b5 reductase activity, acting on NAD(P)H (GO:0004128)|electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|FMN binding (GO:0010181)|hydrolase activity (GO:0016787)|iron ion binding (GO:0005506)|iron-cytochrome-c reductase activity (GO:0047726)|NADP binding (GO:0050661)|NADPH-hemoprotein reductase activity (GO:0003958)|nitric oxide dioxygenase activity (GO:0008941)			central_nervous_system(1)|endometrium(2)|kidney(2)|lung(3)|ovary(1)	9					Benzphetamine(DB00865)|Daunorubicin(DB00694)|Doxorubicin(DB00997)|Ethylmorphine(DB01466)|Flavin adenine dinucleotide(DB03147)|Lipoic Acid(DB00166)|Mitomycin(DB00305)|Nilutamide(DB00665)|Nitrofurantoin(DB00698)	AGGGAAAGCCGCACATAAGCA	0.597																																																	0													38.0	47.0	44.0					7																	75616592		2064	4224	6288	SO:0001628	intergenic_variant	83862			AF258341	CCDS5579.1	7q11.2	2006-12-05			ENSG00000127948	ENSG00000127948			9208	protein-coding gene	gene with protein product		124015				2516426	Standard	NM_000941		Approved	CYPOR, FLJ26468	uc003udy.3	P16435	OTTHUMG00000130413		7.37:g.75616592G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q16455|Q197M5|Q8N181|Q9H3M8|Q9UDT3	RNA	SNP	-	NULL	ENST00000461988.1	37	NULL	CCDS5579.1	7																																																																																			TMEM120A	-	-		0.597	POR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM120A	HGNC	protein_coding	OTTHUMT00000252796.7	G	NM_000941		75616592	-1	no_errors	ENST00000338761	ensembl	human	known	70_37	rna	SNP	0.992	A
TMEM131	23505	genome.wustl.edu	37	2	98449874	98449874	+	Nonsense_Mutation	SNP	A	A	C			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr2:98449874A>C	ENST00000186436.5	-	11	1256	c.1028T>G	c.(1027-1029)tTa>tGa	p.L343*	TMEM131_ENST00000425805.2_Nonsense_Mutation_p.L294*	NM_015348.1	NP_056163.1	Q92545	TM131_HUMAN	transmembrane protein 131	343						integral component of membrane (GO:0016021)				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(4)|prostate(1)|skin(1)|stomach(1)	57						ATGAAGGTTTAAAACTTTTGG	0.249																																																	0													22.0	22.0	22.0					2																	98449874		1766	4013	5779	SO:0001587	stop_gained	23505			AK025852	CCDS46368.1	2q11.2	2006-04-12			ENSG00000075568	ENSG00000075568			30366	protein-coding gene	gene with protein product		615659				9039502, 10996388	Standard	NM_015348		Approved	CC28, YR-23, RW1, KIAA0257, PRO1048	uc002syh.4	Q92545	OTTHUMG00000153061	ENST00000186436.5:c.1028T>G	2.37:g.98449874A>C	ENSP00000186436:p.Leu343*	Somatic		WXS	Illumina HiSeq	Phase_IV		Nonsense_Mutation	SNP	pfam_DUF3651_TMEM131	p.L343*	ENST00000186436.5	37	c.1028	CCDS46368.1	2	.	.	.	.	.	.	.	.	.	.	A	32	5.135072	0.94517	.	.	ENSG00000075568	ENST00000186436;ENST00000425805	.	.	.	5.85	5.85	0.93711	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-13.7102	16.2421	0.82418	1.0:0.0:0.0:0.0	.	.	.	.	X	343;294	.	ENSP00000186436:L343X	L	-	2	0	TMEM131	97816306	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	8.415000	0.90241	2.234000	0.73211	0.533000	0.62120	TTA	TMEM131	-	NULL		0.249	TMEM131-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM131	HGNC	protein_coding	OTTHUMT00000329285.2	A	XM_371542		98449874	-1	no_errors	ENST00000186436	ensembl	human	known	70_37	nonsense	SNP	1.000	C
TMEM132B	114795	genome.wustl.edu	37	12	126139090	126139090	+	Missense_Mutation	SNP	T	T	A			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr12:126139090T>A	ENST00000299308.3	+	9	3079	c.3071T>A	c.(3070-3072)gTc>gAc	p.V1024D	TMEM132B_ENST00000535886.1_Missense_Mutation_p.V536D	NM_052907.2	NP_443139.2	Q14DG7	T132B_HUMAN	transmembrane protein 132B	1024						integral component of membrane (GO:0016021)				NS(1)|breast(9)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(11)|liver(1)|lung(45)|ovary(5)|pancreas(1)|prostate(4)|skin(15)|upper_aerodigestive_tract(3)|urinary_tract(1)	107	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000423)|Epithelial(86;0.00394)|all cancers(50;0.0362)		AGGAAGAGAGTCAAGTTCACT	0.453																																																	0													64.0	62.0	63.0					12																	126139090		1886	4105	5991	SO:0001583	missense	114795			AB067493	CCDS41859.1, CCDS66501.1	12q24.31	2006-03-02							29397	protein-coding gene	gene with protein product						11572484	Standard	NM_001286219		Approved	KIAA1906, KIAA1786	uc001uhe.1	Q14DG7		ENST00000299308.3:c.3071T>A	12.37:g.126139090T>A	ENSP00000299308:p.Val1024Asp	Somatic		WXS	Illumina HiSeq	Phase_IV	A2RRG8|Q8NA73|Q96JN9|Q96PY1	Missense_Mutation	SNP	NULL	p.V1024D	ENST00000299308.3	37	c.3071	CCDS41859.1	12	.	.	.	.	.	.	.	.	.	.	T	22.5	4.299148	0.81025	.	.	ENSG00000139364	ENST00000299308;ENST00000535886	T;T	0.28895	2.16;1.59	5.81	5.81	0.92471	.	0.000000	0.56097	D	0.000021	T	0.58438	0.2122	M	0.78916	2.43	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.63225	-0.6685	10	0.87932	D	0	.	16.1691	0.81790	0.0:0.0:0.0:1.0	.	1024	Q14DG7	T132B_HUMAN	D	1024;536	ENSP00000299308:V1024D;ENSP00000440436:V536D	ENSP00000299308:V1024D	V	+	2	0	TMEM132B	124705043	1.000000	0.71417	0.999000	0.59377	0.984000	0.73092	7.809000	0.86057	2.213000	0.71641	0.533000	0.62120	GTC	TMEM132B	-	NULL		0.453	TMEM132B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TMEM132B	HGNC	protein_coding	OTTHUMT00000400043.1	T	NM_052907		126139090	+1	no_errors	ENST00000299308	ensembl	human	known	70_37	missense	SNP	1.000	A
TMEM132C	92293	genome.wustl.edu	37	12	129189681	129189681	+	Missense_Mutation	SNP	C	C	T			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr12:129189681C>T	ENST00000435159.2	+	9	2168	c.2168C>T	c.(2167-2169)aCg>aTg	p.T723M	TMEM132C_ENST00000315208.8_Missense_Mutation_p.T339M|TMEM132C_ENST00000537538.1_Missense_Mutation_p.T108M	NM_001136103.2	NP_001129575.2	Q8N3T6	T132C_HUMAN	transmembrane protein 132C	723						integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|lung(2)|prostate(2)|skin(1)	13						GGCTCTGTGACGCCCCTGGAC	0.617																																																	0													66.0	65.0	65.0					12																	129189681		692	1591	2283	SO:0001583	missense	92293			AK126715		12q24.32	2014-06-13				ENSG00000181234			25436	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 152"""						Standard	NM_001136103		Approved	DKFZp761O2018, PPP1R152	uc021rgn.1	Q8N3T6		ENST00000435159.2:c.2168C>T	12.37:g.129189681C>T	ENSP00000410852:p.Thr723Met	Somatic		WXS	Illumina HiSeq	Phase_IV	Q69YX8	Missense_Mutation	SNP	NULL	p.T723M	ENST00000435159.2	37	c.2168		12	.	.	.	.	.	.	.	.	.	.	C	15.33	2.800384	0.50315	.	.	ENSG00000181234	ENST00000435159;ENST00000315208;ENST00000537538	T;T;T	0.14266	2.52;2.52;2.52	4.84	4.84	0.62591	.	0.000000	0.64402	D	0.000013	T	0.20414	0.0491	M	0.64170	1.965	0.80722	D	1	D	0.54207	0.965	B	0.44108	0.441	T	0.02933	-1.1092	10	0.37606	T	0.19	.	17.9558	0.89068	0.0:1.0:0.0:0.0	.	723	Q8N3T6	T132C_HUMAN	M	723;339;108	ENSP00000410852:T723M;ENSP00000324458:T339M;ENSP00000438477:T108M	ENSP00000324458:T339M	T	+	2	0	TMEM132C	127755634	1.000000	0.71417	0.181000	0.23098	0.095000	0.18619	5.828000	0.69307	2.230000	0.72887	0.655000	0.94253	ACG	TMEM132C	-	NULL		0.617	TMEM132C-201	KNOWN	basic|appris_principal	protein_coding	TMEM132C	HGNC	protein_coding		C	XM_044062		129189681	+1	no_errors	ENST00000435159	ensembl	human	known	70_37	missense	SNP	1.000	T
TMEM145	284339	genome.wustl.edu	37	19	42818959	42818959	+	Missense_Mutation	SNP	G	G	A			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr19:42818959G>A	ENST00000301204.3	+	5	417	c.376G>A	c.(376-378)Gga>Aga	p.G126R	TMEM145_ENST00000598766.1_Missense_Mutation_p.G136R|TMEM145_ENST00000601020.1_3'UTR	NM_173633.2	NP_775904.2	Q8NBT3	TM145_HUMAN	transmembrane protein 145	126					G-protein coupled receptor signaling pathway (GO:0007186)|response to pheromone (GO:0019236)	integral component of membrane (GO:0016021)				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|prostate(4)|skin(1)|urinary_tract(1)	27		Prostate(69;0.00682)				ATCAGAGGAGGGAACCCGCTA	0.617																																																	0													72.0	72.0	72.0					19																	42818959		2203	4300	6503	SO:0001583	missense	284339			AK075286	CCDS12603.1	19q13.2	2008-02-05				ENSG00000167619			26912	protein-coding gene	gene with protein product							Standard	NM_173633		Approved	FLJ90805	uc002otk.1	Q8NBT3		ENST00000301204.3:c.376G>A	19.37:g.42818959G>A	ENSP00000301204:p.Gly126Arg	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_Rhodopsin-like_GPCR_TM_domain	p.G126R	ENST00000301204.3	37	c.376	CCDS12603.1	19	.	.	.	.	.	.	.	.	.	.	G	14.97	2.693573	0.48202	.	.	ENSG00000167619	ENST00000301204	T	0.41758	0.99	5.0	5.0	0.66597	.	0.135348	0.49305	D	0.000156	T	0.35189	0.0923	L	0.40543	1.245	0.54753	D	0.999981	P	0.44877	0.845	B	0.41813	0.367	T	0.08027	-1.0742	10	0.10902	T	0.67	-8.7533	16.1603	0.81700	0.0:0.0:1.0:0.0	.	126	Q8NBT3	TM145_HUMAN	R	126	ENSP00000301204:G126R	ENSP00000301204:G126R	G	+	1	0	TMEM145	47510799	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	3.504000	0.53347	2.488000	0.83962	0.557000	0.71058	GGA	TMEM145	-	NULL		0.617	TMEM145-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM145	HGNC	protein_coding	OTTHUMT00000463737.1	G	NM_173633		42818959	+1	no_errors	ENST00000301204	ensembl	human	known	70_37	missense	SNP	1.000	A
TMEM184A	202915	genome.wustl.edu	37	7	1588237	1588237	+	Silent	SNP	G	G	A			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr7:1588237G>A	ENST00000297477.5	-	7	1048	c.732C>T	c.(730-732)acC>acT	p.T244T	TMEM184A_ENST00000449955.1_5'Flank	NM_001097620.1	NP_001091089.1	Q6ZMB5	T184A_HUMAN	transmembrane protein 184A	244					germ-line sex determination (GO:0018992)|regulation of protein localization (GO:0032880)|regulation of secretion (GO:0051046)	early endosome membrane (GO:0031901)|integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(1)|lung(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	12		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;5.88e-15)		GCTCCCTGGTGGTGAAGTAGA	0.607																																																	0													128.0	158.0	148.0					7																	1588237		2199	4298	6497	SO:0001819	synonymous_variant	202915				CCDS43537.1	7p22.3	2008-05-02			ENSG00000164855	ENSG00000164855			28797	protein-coding gene	gene with protein product						12477932	Standard	NM_001097620		Approved	MGC9712	uc003skv.4	Q6ZMB5	OTTHUMG00000119025	ENST00000297477.5:c.732C>T	7.37:g.1588237G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q8TBQ6	Silent	SNP	pfam_Ost-alpha	p.T244	ENST00000297477.5	37	c.732	CCDS43537.1	7																																																																																			TMEM184A	-	pfam_Ost-alpha		0.607	TMEM184A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM184A	HGNC	protein_coding	OTTHUMT00000239229.4	G	NM_152689		1588237	-1	no_errors	ENST00000297477	ensembl	human	known	70_37	silent	SNP	1.000	A
TMEM187	8269	genome.wustl.edu	37	X	153248009	153248009	+	Missense_Mutation	SNP	G	G	A	rs149045617		TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chrX:153248009G>A	ENST00000369982.4	+	2	1243	c.496G>A	c.(496-498)Gca>Aca	p.A166T	MIR3202-1_ENST00000580198.1_RNA	NM_003492.2	NP_003483.1	Q14656	TM187_HUMAN	transmembrane protein 187	166						integral component of membrane (GO:0016021)|transport vesicle (GO:0030133)				breast(1)|large_intestine(1)|lung(1)|prostate(2)	5	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					CTTCGAGGTCGCACTGGGTGC	0.662													G|||	1	0.000264901	0.0	0.0	3775	,	,		13974	0.0		0.0	False		,,,				2504	0.001																0								G	THR/ALA	1,3834		0,1,0,1631,571	42.0	33.0	36.0		496	-0.3	0.0	X	dbSNP_134	36	1,6725		0,0,1,2427,1871	yes	missense	TMEM187	NM_003492.2	58	0,1,1,4058,2442	AA,AG,A,GG,G		0.0149,0.0261,0.0189	benign	166/262	153248009	2,10559	2203	4299	6502	SO:0001583	missense	8269			X92475	CCDS14739.1	Xq28	2007-03-14	2007-03-14	2007-03-14	ENSG00000177854	ENSG00000177854			13705	protein-coding gene	gene with protein product		300059	"""chromosome X open reading frame 12"""	CXorf12		8661027	Standard	NM_003492		Approved	ITBA1, DXS9878E	uc004fjq.2	Q14656	OTTHUMG00000024220	ENST00000369982.4:c.496G>A	X.37:g.153248009G>A	ENSP00000358999:p.Ala166Thr	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RC47|Q6IAV7	Missense_Mutation	SNP	NULL	p.A166T	ENST00000369982.4	37	c.496	CCDS14739.1	X	.	.	.	.	.	.	.	.	.	.	G	13.36	2.213590	0.39102	2.61E-4	1.49E-4	ENSG00000177854	ENST00000369982	T	0.31510	1.49	4.65	-0.277	0.12898	.	0.136586	0.27080	N	0.021031	T	0.23133	0.0559	L	0.49455	1.56	0.09310	N	1	B	0.29037	0.231	B	0.20955	0.032	T	0.12630	-1.0540	10	0.54805	T	0.06	.	9.3766	0.38286	0.4065:0.0:0.5935:0.0	.	166	Q14656	TM187_HUMAN	T	166	ENSP00000358999:A166T	ENSP00000358999:A166T	A	+	1	0	TMEM187	152901203	0.211000	0.23529	0.000000	0.03702	0.001000	0.01503	1.101000	0.31037	-0.237000	0.09739	-0.422000	0.05995	GCA	TMEM187	-	NULL		0.662	TMEM187-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM187	HGNC	protein_coding	OTTHUMT00000061093.1	G	NM_003492		153248009	+1	no_errors	ENST00000369982	ensembl	human	known	70_37	missense	SNP	0.007	A
TMEM229A	730130	genome.wustl.edu	37	7	123672195	123672195	+	Missense_Mutation	SNP	C	C	G			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr7:123672195C>G	ENST00000455783.1	-	1	1328	c.863G>C	c.(862-864)aGt>aCt	p.S288T	RP5-921G16.1_ENST00000484322.1_RNA	NM_001136002.1	NP_001129474.1	B2RXF0	T229A_HUMAN	transmembrane protein 229A	288						host cell nucleus (GO:0042025)|integral component of membrane (GO:0016021)	sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|kidney(3)	6						CACCACGAAACTGCAGCTGCC	0.567																																																	0													56.0	67.0	64.0					7																	123672195		692	1591	2283	SO:0001583	missense	730130			BC157828	CCDS47694.1	7q31.32	2009-09-22			ENSG00000234224	ENSG00000234224			37279	protein-coding gene	gene with protein product							Standard	NM_001136002		Approved		uc011kob.2	B2RXF0	OTTHUMG00000154762	ENST00000455783.1:c.863G>C	7.37:g.123672195C>G	ENSP00000395244:p.Ser288Thr	Somatic		WXS	Illumina HiSeq	Phase_IV	A4D0X6	Missense_Mutation	SNP	NULL	p.S288T	ENST00000455783.1	37	c.863	CCDS47694.1	7	.	.	.	.	.	.	.	.	.	.	C	26.4	4.738719	0.89573	.	.	ENSG00000234224	ENST00000455783	T	0.49720	0.77	5.54	5.54	0.83059	.	.	.	.	.	T	0.60340	0.2261	L	0.39397	1.21	0.43628	D	0.996015	D	0.89917	1.0	D	0.85130	0.997	T	0.60260	-0.7298	9	0.54805	T	0.06	-7.7308	14.9731	0.71249	0.0:1.0:0.0:0.0	.	288	B2RXF0	T229A_HUMAN	T	288	ENSP00000395244:S288T	ENSP00000395244:S288T	S	-	2	0	TMEM229A	123459431	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	2.687000	0.46976	2.591000	0.87537	0.650000	0.86243	AGT	TMEM229A	-	NULL		0.567	TMEM229A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM229A	HGNC	protein_coding	OTTHUMT00000336960.3	C	NM_001136002		123672195	-1	no_errors	ENST00000455783	ensembl	human	known	70_37	missense	SNP	1.000	G
TMEM57	55219	genome.wustl.edu	37	1	25783176	25783176	+	Missense_Mutation	SNP	G	G	T			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr1:25783176G>T	ENST00000374343.4	+	5	685	c.506G>T	c.(505-507)gGc>gTc	p.G169V	TMEM57_ENST00000399763.3_Intron|TMEM57_ENST00000470035.1_Intron|TMEM57_ENST00000399766.3_Intron	NM_018202.4	NP_060672.2	Q8N5G2	MACOI_HUMAN	transmembrane protein 57	169					brain development (GO:0007420)	axon (GO:0030424)|integral component of membrane (GO:0016021)|neuron projection terminus (GO:0044306)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|synapse (GO:0045202)				breast(3)|endometrium(2)|kidney(2)|large_intestine(8)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	27		Colorectal(325;0.000147)|Renal(390;0.00211)|Lung NSC(340;0.00715)|all_lung(284;0.00989)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0675)|all_neural(195;0.201)		UCEC - Uterine corpus endometrioid carcinoma (279;0.042)|OV - Ovarian serous cystadenocarcinoma(117;1.85e-26)|Colorectal(126;2.99e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|STAD - Stomach adenocarcinoma(196;0.000766)|BRCA - Breast invasive adenocarcinoma(304;0.000986)|GBM - Glioblastoma multiforme(114;0.0191)|READ - Rectum adenocarcinoma(331;0.0649)		TTGGGGTTTGGCTTCAAAAGT	0.398																																																	0													74.0	70.0	72.0					1																	25783176		2203	4300	6503	SO:0001583	missense	55219			AK001609	CCDS30638.1, CCDS60034.1	1p36.11	2008-02-05			ENSG00000204178	ENSG00000204178			25572	protein-coding gene	gene with protein product		610301				12459264, 15255972	Standard	XM_005245931		Approved	FLJ10747	uc001bkk.3	Q8N5G2	OTTHUMG00000003473	ENST00000374343.4:c.506G>T	1.37:g.25783176G>T	ENSP00000363463:p.Gly169Val	Somatic		WXS	Illumina HiSeq	Phase_IV	B1AK00|Q2TLX5|Q2TLX6|Q9NVG6	Missense_Mutation	SNP	pfam_Macoilin,superfamily_Prefoldin	p.G169V	ENST00000374343.4	37	c.506	CCDS30638.1	1	.	.	.	.	.	.	.	.	.	.	G	27.9	4.876239	0.91664	.	.	ENSG00000204178	ENST00000374343	.	.	.	5.92	5.92	0.95590	.	0.000000	0.85682	D	0.000000	D	0.83501	0.5268	M	0.82716	2.605	0.80722	D	1	D	0.63880	0.993	D	0.67900	0.954	D	0.84930	0.0859	9	0.87932	D	0	-12.5409	19.3123	0.94195	0.0:0.0:1.0:0.0	.	169	Q8N5G2	MACOI_HUMAN	V	169	.	ENSP00000363463:G169V	G	+	2	0	TMEM57	25655763	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.467000	0.97671	2.798000	0.96311	0.557000	0.71058	GGC	TMEM57	-	pfam_Macoilin		0.398	TMEM57-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMEM57	HGNC	protein_coding	OTTHUMT00000009659.2	G	NM_018202		25783176	+1	no_errors	ENST00000374343	ensembl	human	known	70_37	missense	SNP	1.000	T
TMEM80	283232	genome.wustl.edu	37	11	695769	695769	+	Missense_Mutation	SNP	G	G	A			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr11:695769G>A	ENST00000608174.1	+	1	154	c.17G>A	c.(16-18)cGa>cAa	p.R6Q	TMEM80_ENST00000397512.3_Missense_Mutation_p.R6Q|TMEM80_ENST00000397510.3_Missense_Mutation_p.R54Q|DEAF1_ENST00000382409.3_5'Flank|DEAF1_ENST00000338675.6_5'Flank	NM_001042463.1|NM_174940.2	NP_001035928.2|NP_777600.3	Q96HE8	TMM80_HUMAN	transmembrane protein 80	6						integral component of membrane (GO:0016021)				endometrium(1)|kidney(1)|large_intestine(1)|lung(2)	5		all_cancers(49;5.11e-06)|all_epithelial(84;0.00143)|Breast(177;0.00234)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;3.44e-27)|Epithelial(43;2.29e-26)|OV - Ovarian serous cystadenocarcinoma(40;1.19e-20)|BRCA - Breast invasive adenocarcinoma(625;4.23e-05)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GAAGGAGCGCGAGCGCGCGGG	0.766																																																	0													1.0	1.0	1.0					11																	695769		665	1854	2519	SO:0001583	missense	283232				CCDS41587.1, CCDS41587.2, CCDS73231.1	11p15.5	2005-10-18			ENSG00000177042	ENSG00000177042			27453	protein-coding gene	gene with protein product						12477932	Standard	NM_001042463		Approved	FLJ38216	uc010qwi.2	Q96HE8	OTTHUMG00000133307	ENST00000608174.1:c.17G>A	11.37:g.695769G>A	ENSP00000476563:p.Arg6Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	A8MQ01|A8MXY8|B7WNU5	Missense_Mutation	SNP	pfam_Uncharacterised_TM-17	p.R6Q	ENST00000608174.1	37	c.17	CCDS41587.1	11	.	.	.	.	.	.	.	.	.	.	G	8.938	0.965101	0.18583	.	.	ENSG00000177042	ENST00000397510;ENST00000397512	D;D	0.91740	-2.9;-1.76	1.31	0.276	0.15663	.	.	.	.	.	T	0.73071	0.3540	N	0.08118	0	0.18873	N	0.999983	P;P	0.44241	0.829;0.602	B;B	0.21360	0.034;0.015	T	0.67825	-0.5570	9	0.22109	T	0.4	.	5.1349	0.14930	0.0:0.3781:0.6219:0.0	.	6;6	Q96HE8-2;Q96HE8	.;TMM80_HUMAN	Q	6	ENSP00000380646:R6Q;ENSP00000380648:R6Q	ENSP00000380646:R6Q	R	+	2	0	TMEM80	685769	0.000000	0.05858	0.008000	0.14137	0.216000	0.24613	-0.063000	0.11655	0.086000	0.17137	0.462000	0.41574	CGA	TMEM80	-	NULL		0.766	TMEM80-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	TMEM80	HGNC	protein_coding	OTTHUMT00000257104.2	G	NM_174940		695769	+1	no_errors	ENST00000397510	ensembl	human	known	70_37	missense	SNP	0.009	A
TMOD1	7111	genome.wustl.edu	37	9	100315615	100315615	+	Silent	SNP	G	G	A			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr9:100315615G>A	ENST00000259365.4	+	4	543	c.330G>A	c.(328-330)gtG>gtA	p.V110V	TMOD1_ENST00000375175.1_5'Flank|TMOD1_ENST00000395211.2_Silent_p.V110V	NM_003275.3	NP_003266.1	P28289	TMOD1_HUMAN	tropomodulin 1	110	Tropomyosin-binding. {ECO:0000255}.				adult locomotory behavior (GO:0008344)|muscle filament sliding (GO:0030049)|myofibril assembly (GO:0030239)	cortical cytoskeleton (GO:0030863)|cytosol (GO:0005829)|membrane (GO:0016020)|myofibril (GO:0030016)				breast(1)|central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(2)|urinary_tract(1)	11		Acute lymphoblastic leukemia(62;0.154)		STAD - Stomach adenocarcinoma(157;0.105)		TGGAAAGTGTGACGCTGGAAC	0.542																																																	0													123.0	109.0	114.0					9																	100315615		2203	4300	6503	SO:0001819	synonymous_variant	7111				CCDS6726.1	9q22	2008-07-21		2003-03-21	ENSG00000136842	ENSG00000136842			11871	protein-coding gene	gene with protein product		190930		D9S57E, TMOD		1370827, 8661028	Standard	NM_003275		Approved	ETMOD	uc004axl.2	P28289	OTTHUMG00000020325	ENST00000259365.4:c.330G>A	9.37:g.100315615G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	B2RB77|Q5T7W3|Q9BUF1	Silent	SNP	pfam_Tropomodulin	p.V110	ENST00000259365.4	37	c.330	CCDS6726.1	9																																																																																			TMOD1	-	pfam_Tropomodulin		0.542	TMOD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMOD1	HGNC	protein_coding	OTTHUMT00000053320.2	G	NM_003275		100315615	+1	no_errors	ENST00000259365	ensembl	human	known	70_37	silent	SNP	0.999	A
TMTC1	83857	genome.wustl.edu	37	12	29659559	29659559	+	IGR	SNP	C	C	G			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr12:29659559C>G	ENST00000539277.1	-	0	2758				TMTC1_ENST00000552618.1_3'UTR|TMTC1_ENST00000256062.5_3'UTR|TMTC1_ENST00000551659.1_3'UTR|TMTC1_ENST00000319685.8_5'UTR	NM_001193451.1	NP_001180380.1	Q8IUR5	TMTC1_HUMAN	transmembrane and tetratricopeptide repeat containing 1							integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)				breast(1)|endometrium(4)|kidney(3)|large_intestine(17)|lung(45)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	75	Lung NSC(12;7.61e-10)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.032)					CTCCTTCCCTCTCAGACCTTC	0.418																																																	0																																										SO:0001628	intergenic_variant	83857				CCDS8718.1, CCDS53772.1	12p11.22	2014-06-09	2006-01-06			ENSG00000133687		"""Tetratricopeptide (TTC) repeat domain containing"""	24099	protein-coding gene	gene with protein product		615855				24764305	Standard	NM_001193451		Approved	ARG99, OLF, FLJ31400, FLJ41625	uc021qwi.1	Q8IUR5	OTTHUMG00000169324		12.37:g.29659559C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	D0EP37|F5H8B5|Q6PIU4|Q6ZSM5|Q96N52|Q9BXM2	RNA	SNP	-	NULL	ENST00000539277.1	37	NULL	CCDS53772.1	12																																																																																			TMTC1	-	-		0.418	TMTC1-002	PUTATIVE	basic|CCDS	protein_coding	TMTC1	HGNC	protein_coding	OTTHUMT00000403509.1	C	NM_031920		29659559	-1	no_errors	ENST00000319685	ensembl	human	known	70_37	rna	SNP	0.000	G
TMPRSS12	283471	genome.wustl.edu	37	12	51279034	51279034	+	Missense_Mutation	SNP	G	G	A	rs374684282	byFrequency	TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr12:51279034G>A	ENST00000398458.3	+	4	690	c.658G>A	c.(658-660)Gct>Act	p.A220T	TMPRSS12_ENST00000551456.1_Missense_Mutation_p.A220T	NM_182559.2	NP_872365	Q86WS5	TMPSC_HUMAN	transmembrane (C-terminal) protease, serine 12	220	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					integral component of membrane (GO:0016021)	serine-type endopeptidase activity (GO:0004252)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(7)|ovary(1)|skin(1)|urinary_tract(1)	18						AACAGGTAACGCTACAAATAT	0.323													G|||	3	0.000599042	0.0015	0.0	5008	,	,		18411	0.0		0.001	False		,,,				2504	0.0																0								G	THR/ALA	2,3634		0,2,1816	99.0	94.0	96.0		658	-6.0	0.0	12		96	0,8170		0,0,4085	no	missense	TMPRSS12	NM_182559.2	58	0,2,5901	AA,AG,GG		0.0,0.055,0.0169	benign	220/349	51279034	2,11804	1818	4085	5903	SO:0001583	missense	283471			BC048112	CCDS44881.1	12q13.12	2014-08-12	2010-04-21		ENSG00000186452	ENSG00000186452		"""Serine peptidases / Transmembrane"""	28779	protein-coding gene	gene with protein product			"""transmembrane protease, serine 12"""				Standard	NM_182559		Approved	MGC57341, CT151	uc001rwx.4	Q86WS5	OTTHUMG00000169483	ENST00000398458.3:c.658G>A	12.37:g.51279034G>A	ENSP00000381476:p.Ala220Thr	Somatic		WXS	Illumina HiSeq	Phase_IV	B9ZVX2	Missense_Mutation	SNP	pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A	p.A220T	ENST00000398458.3	37	c.658	CCDS44881.1	12	.	.	.	.	.	.	.	.	.	.	G	7.337	0.620084	0.14193	5.5E-4	0.0	ENSG00000186452	ENST00000551456;ENST00000398458	D;T	0.88509	-2.39;0.29	5.2	-5.98	0.02220	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	2.677230	0.01143	N	0.006254	T	0.64724	0.2624	N	0.02169	-0.655	0.09310	N	1	B;B	0.28900	0.227;0.011	B;B	0.22601	0.04;0.004	T	0.65100	-0.6250	10	0.13108	T	0.6	0.7805	1.5064	0.02487	0.2852:0.112:0.3774:0.2254	.	220;220	F8WBX2;Q86WS5	.;TMPSC_HUMAN	T	220	ENSP00000447259:A220T;ENSP00000381476:A220T	ENSP00000381476:A220T	A	+	1	0	TMPRSS12	49565301	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.992000	0.03724	-0.640000	0.05495	-1.113000	0.02065	GCT	TMPRSS12	-	pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6		0.323	TMPRSS12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMPRSS12	HGNC	protein_coding	OTTHUMT00000404289.1	G	NM_182559		51279034	+1	no_errors	ENST00000398458	ensembl	human	known	70_37	missense	SNP	0.000	A
TMTC3	160418	genome.wustl.edu	37	12	88586525	88586525	+	Frame_Shift_Del	DEL	A	A	-	rs201531208		TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr12:88586525delA	ENST00000266712.6	+	13	2071	c.1851delA	c.(1849-1851)ctafs	p.L617fs		NM_181783.3	NP_861448.2	Q6ZXV5	TMTC3_HUMAN	transmembrane and tetratricopeptide repeat containing 3	617					bud outgrowth involved in lung branching (GO:0060447)|lung alveolus development (GO:0048286)|muscle fiber development (GO:0048747)|post-embryonic development (GO:0009791)|regulation of gene expression (GO:0010468)	integral component of membrane (GO:0016021)				NS(1)|breast(2)|endometrium(1)|kidney(4)|large_intestine(5)|liver(1)|lung(12)|prostate(4)|skin(1)	31						ATGAAGCCCTAAAAAACTTTA	0.333																																																	0													84.0	89.0	87.0					12																	88586525		2203	4299	6502	SO:0001589	frameshift_variant	160418				CCDS9032.1	12q21.32	2014-09-04			ENSG00000139324	ENSG00000139324		"""Tetratricopeptide (TTC) repeat domain containing"""	26899	protein-coding gene	gene with protein product							Standard	NM_181783		Approved	FLJ90492, SMILE	uc001tau.3	Q6ZXV5	OTTHUMG00000169887	ENST00000266712.6:c.1851delA	12.37:g.88586525delA	ENSP00000266712:p.Leu617fs	Somatic		WXS	Illumina HiSeq	Phase_IV	Q5CZ86|Q5H9T6|Q68DQ6|Q68DX0|Q7Z332|Q8NC50	Frame_Shift_Del	DEL	pfam_TPR_2,pfam_TPR-1,pfam_DUF1736,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.N619fs	ENST00000266712.6	37	c.1851	CCDS9032.1	12																																																																																			TMTC3	-	pfam_TPR_2,pfam_TPR-1,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom		0.333	TMTC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMTC3	HGNC	protein_coding	OTTHUMT00000406421.1	A	NM_181783		88586525	+1	no_errors	ENST00000266712	ensembl	human	known	70_37	frame_shift_del	DEL	0.393	-
TNFAIP8L2	79626	genome.wustl.edu	37	1	151131683	151131683	+	Missense_Mutation	SNP	G	G	C			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr1:151131683G>C	ENST00000368910.3	+	2	636	c.510G>C	c.(508-510)aaG>aaC	p.K170N		NM_024575.4	NP_078851.2	Q6P589	TP8L2_HUMAN	tumor necrosis factor, alpha-induced protein 8-like 2	170					innate immune response (GO:0045087)|negative regulation of inflammatory response (GO:0050728)|negative regulation of T cell activation (GO:0050868)	cytoplasm (GO:0005737)		p.K170N(1)		lung(1)|skin(2)	3	Lung SC(34;0.00471)|Ovarian(49;0.0147)|all_hematologic(923;0.0597)|Hepatocellular(266;0.0997)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.0486)|LUSC - Lung squamous cell carcinoma(543;0.211)			ACCTTGGCAAGATCTGTGACG	0.542																																																	1	Substitution - Missense(1)	lung(1)											39.0	38.0	38.0					1																	151131683		2203	4300	6503	SO:0001583	missense	79626			BC063014	CCDS985.1	1q21.2	2008-02-05			ENSG00000163154	ENSG00000163154			26277	protein-coding gene	gene with protein product		612112					Standard	NM_024575		Approved	FLJ23467	uc001ewx.2	Q6P589	OTTHUMG00000012259	ENST00000368910.3:c.510G>C	1.37:g.151131683G>C	ENSP00000357906:p.Lys170Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	Q6I9Y0|Q9H2H7|Q9H5G2	Missense_Mutation	SNP	pfam_DUF758	p.K170N	ENST00000368910.3	37	c.510	CCDS985.1	1	.	.	.	.	.	.	.	.	.	.	G	18.59	3.657469	0.67586	.	.	ENSG00000163154	ENST00000368910	T	0.38722	1.12	5.36	5.36	0.76844	.	0.101452	0.64402	D	0.000005	T	0.39332	0.1074	L	0.43598	1.365	0.80722	D	1	D	0.56035	0.974	P	0.61592	0.891	T	0.06643	-1.0815	10	0.25751	T	0.34	-16.6556	11.4253	0.50007	0.0827:0.0:0.9173:0.0	.	170	Q6P589	TP8L2_HUMAN	N	170	ENSP00000357906:K170N	ENSP00000357906:K170N	K	+	3	2	TNFAIP8L2	149398307	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.639000	0.37176	2.782000	0.95742	0.655000	0.94253	AAG	TNFAIP8L2	-	pfam_DUF758		0.542	TNFAIP8L2-001	KNOWN	mRNA_start_NF|basic|appris_principal|CCDS	protein_coding	TNFAIP8L2	HGNC	protein_coding	OTTHUMT00000034069.2	G	NM_024575		151131683	+1	no_errors	ENST00000368910	ensembl	human	known	70_37	missense	SNP	1.000	C
TNFRSF13B	23495	genome.wustl.edu	37	17	16843020	16843020	+	Silent	SNP	C	C	T			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr17:16843020C>T	ENST00000261652.2	-	5	735	c.723G>A	c.(721-723)acG>acA	p.T241T	TNFRSF13B_ENST00000583789.1_Silent_p.T195T|TNFRSF13B_ENST00000579315.1_Intron|TNFRSF13B_ENST00000437538.2_Silent_p.T195T|TNFRSF13B_ENST00000581616.2_5'Flank	NM_012452.2	NP_036584.1	O14836	TR13B_HUMAN	tumor necrosis factor receptor superfamily, member 13B	241					B cell homeostasis (GO:0001782)|cell surface receptor signaling pathway (GO:0007166)|hematopoietic progenitor cell differentiation (GO:0002244)|negative regulation of B cell proliferation (GO:0030889)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)	receptor activity (GO:0004872)			endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(7)|skin(1)	16						CGCTCTCCTGCGTGGGCGCCC	0.667									IgA Deficiency, Selective																																								0													33.0	32.0	32.0					17																	16843020		2203	4300	6503	SO:0001819	synonymous_variant	23495	Familial Cancer Database	IGAD1, IGAD2	AF023614	CCDS11181.1	17p11.2	2014-09-17			ENSG00000240505	ENSG00000240505		"""Tumor necrosis factor receptor superfamily"", ""CD molecules"""	18153	protein-coding gene	gene with protein product		604907				9311921	Standard	NM_012452		Approved	TACI, CD267	uc002gqs.1	O14836	OTTHUMG00000059262	ENST00000261652.2:c.723G>A	17.37:g.16843020C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B2R8B0|B7Z6V8|Q32LX4|Q7Z6F5	Silent	SNP	pfam_TACI_Cys-rich-dom,prints_TNFR_13B	p.T241	ENST00000261652.2	37	c.723	CCDS11181.1	17																																																																																			TNFRSF13B	-	NULL		0.667	TNFRSF13B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TNFRSF13B	HGNC	protein_coding	OTTHUMT00000131474.2	C			16843020	-1	no_errors	ENST00000261652	ensembl	human	known	70_37	silent	SNP	0.998	T
TNFRSF13B	23495	genome.wustl.edu	37	17	16852098	16852098	+	Silent	SNP	C	C	T	rs371292644		TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr17:16852098C>T	ENST00000261652.2	-	3	411	c.399G>A	c.(397-399)tcG>tcA	p.S133S	TNFRSF13B_ENST00000583789.1_Silent_p.S87S|TNFRSF13B_ENST00000579315.1_Silent_p.S133S|TNFRSF13B_ENST00000437538.2_Silent_p.S87S|TNFRSF13B_ENST00000581616.2_5'UTR	NM_012452.2	NP_036584.1	O14836	TR13B_HUMAN	tumor necrosis factor receptor superfamily, member 13B	133					B cell homeostasis (GO:0001782)|cell surface receptor signaling pathway (GO:0007166)|hematopoietic progenitor cell differentiation (GO:0002244)|negative regulation of B cell proliferation (GO:0030889)	external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)	receptor activity (GO:0004872)			endometrium(1)|kidney(2)|large_intestine(4)|liver(1)|lung(7)|skin(1)	16						GGTACCTTCCCGAGTTGTCTG	0.537									IgA Deficiency, Selective																																								0								C		1,4405	2.1+/-5.4	0,1,2202	202.0	174.0	184.0		399	-7.0	0.0	17		184	0,8600		0,0,4300	no	coding-synonymous	TNFRSF13B	NM_012452.2		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		133/294	16852098	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	23495	Familial Cancer Database	IGAD1, IGAD2	AF023614	CCDS11181.1	17p11.2	2014-09-17			ENSG00000240505	ENSG00000240505		"""Tumor necrosis factor receptor superfamily"", ""CD molecules"""	18153	protein-coding gene	gene with protein product		604907				9311921	Standard	NM_012452		Approved	TACI, CD267	uc002gqs.1	O14836	OTTHUMG00000059262	ENST00000261652.2:c.399G>A	17.37:g.16852098C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B2R8B0|B7Z6V8|Q32LX4|Q7Z6F5	Silent	SNP	pfam_TACI_Cys-rich-dom,prints_TNFR_13B	p.S133	ENST00000261652.2	37	c.399	CCDS11181.1	17																																																																																			TNFRSF13B	-	NULL		0.537	TNFRSF13B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TNFRSF13B	HGNC	protein_coding	OTTHUMT00000131474.2	C			16852098	-1	no_errors	ENST00000261652	ensembl	human	known	70_37	silent	SNP	0.000	T
TNFSF13B	10673	genome.wustl.edu	37	13	108955643	108955643	+	Missense_Mutation	SNP	G	G	A			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr13:108955643G>A	ENST00000375887.4	+	4	702	c.524G>A	c.(523-525)gGa>gAa	p.G175E	TNFSF13B_ENST00000430559.1_Missense_Mutation_p.G156E|RNA5SP39_ENST00000411245.1_RNA|TNFSF13B_ENST00000479435.1_3'UTR|TNFSF13B_ENST00000542136.1_Intron	NM_006573.4	NP_006564.1	Q9Y275	TN13B_HUMAN	tumor necrosis factor (ligand) superfamily, member 13b	175					B cell costimulation (GO:0031296)|B cell homeostasis (GO:0001782)|cell proliferation (GO:0008283)|immune response (GO:0006955)|immunoglobulin secretion (GO:0048305)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cell proliferation (GO:0008284)|positive regulation of germinal center formation (GO:0002636)|positive regulation of T cell proliferation (GO:0042102)|signal transduction (GO:0007165)|T cell costimulation (GO:0031295)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)			large_intestine(1)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	10	all_lung(23;0.000396)|all_neural(89;0.00256)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00902)|Lung SC(71;0.104)		all cancers(43;0.184)|BRCA - Breast invasive adenocarcinoma(86;0.19)		Belimumab(DB08879)	TTTAAAAGGGGAAGTGCCCTA	0.353																																																	0													56.0	59.0	58.0					13																	108955643		2202	4300	6502	SO:0001583	missense	10673			AF136293	CCDS9509.1, CCDS45067.1	13q32-q34	2008-05-14			ENSG00000102524	ENSG00000102524		"""Tumor necrosis factor (ligand) superfamily"", ""CD molecules"""	11929	protein-coding gene	gene with protein product		603969		TNFSF20		10331498, 10359578	Standard	NM_006573		Approved	BAFF, THANK, BLYS, TALL-1, TALL1, CD257	uc001vqr.3	Q9Y275	OTTHUMG00000017329	ENST00000375887.4:c.524G>A	13.37:g.108955643G>A	ENSP00000365048:p.Gly175Glu	Somatic		WXS	Illumina HiSeq	Phase_IV	E0ADT7|Q6FHD6|Q7Z5J2	Missense_Mutation	SNP	pfam_TNF,superfamily_Tumour_necrosis_fac-like,pfscan_TNF	p.G175E	ENST00000375887.4	37	c.524	CCDS9509.1	13	.	.	.	.	.	.	.	.	.	.	G	16.87	3.241435	0.58995	.	.	ENSG00000102524	ENST00000430559;ENST00000375887	D;D	0.95724	-3.79;-3.79	5.95	5.95	0.96441	Tumour necrosis factor (3);Tumour necrosis factor-like (2);	0.000000	0.85682	D	0.000000	D	0.95194	0.8442	M	0.78637	2.42	0.80722	D	1	P;P	0.42337	0.776;0.665	B;B	0.38428	0.235;0.273	D	0.95128	0.8252	10	0.54805	T	0.06	-22.8088	19.3906	0.94581	0.0:0.0:1.0:0.0	.	156;175	Q9Y275-2;Q9Y275	.;TN13B_HUMAN	E	156;175	ENSP00000389540:G156E;ENSP00000365048:G175E	ENSP00000365048:G175E	G	+	2	0	TNFSF13B	107753644	1.000000	0.71417	0.989000	0.46669	0.976000	0.68499	7.591000	0.82666	2.827000	0.97445	0.650000	0.86243	GGA	TNFSF13B	-	pfam_TNF,superfamily_Tumour_necrosis_fac-like,pfscan_TNF		0.353	TNFSF13B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TNFSF13B	HGNC	protein_coding	OTTHUMT00000045739.3	G			108955643	+1	no_errors	ENST00000375887	ensembl	human	known	70_37	missense	SNP	1.000	A
TNFSF13B	10673	genome.wustl.edu	37	13	108955665	108955665	+	Silent	SNP	G	G	A			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr13:108955665G>A	ENST00000375887.4	+	4	724	c.546G>A	c.(544-546)gaG>gaA	p.E182E	TNFSF13B_ENST00000430559.1_Silent_p.E163E|RNA5SP39_ENST00000411245.1_RNA|TNFSF13B_ENST00000479435.1_3'UTR|TNFSF13B_ENST00000542136.1_Intron	NM_006573.4	NP_006564.1	Q9Y275	TN13B_HUMAN	tumor necrosis factor (ligand) superfamily, member 13b	182					B cell costimulation (GO:0031296)|B cell homeostasis (GO:0001782)|cell proliferation (GO:0008283)|immune response (GO:0006955)|immunoglobulin secretion (GO:0048305)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cell proliferation (GO:0008284)|positive regulation of germinal center formation (GO:0002636)|positive regulation of T cell proliferation (GO:0042102)|signal transduction (GO:0007165)|T cell costimulation (GO:0031295)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)			large_intestine(1)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	10	all_lung(23;0.000396)|all_neural(89;0.00256)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00902)|Lung SC(71;0.104)		all cancers(43;0.184)|BRCA - Breast invasive adenocarcinoma(86;0.19)		Belimumab(DB08879)	AAGAAAAAGAGAATAAAATAT	0.358																																																	0													55.0	59.0	58.0					13																	108955665		2203	4299	6502	SO:0001819	synonymous_variant	10673			AF136293	CCDS9509.1, CCDS45067.1	13q32-q34	2008-05-14			ENSG00000102524	ENSG00000102524		"""Tumor necrosis factor (ligand) superfamily"", ""CD molecules"""	11929	protein-coding gene	gene with protein product		603969		TNFSF20		10331498, 10359578	Standard	NM_006573		Approved	BAFF, THANK, BLYS, TALL-1, TALL1, CD257	uc001vqr.3	Q9Y275	OTTHUMG00000017329	ENST00000375887.4:c.546G>A	13.37:g.108955665G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	E0ADT7|Q6FHD6|Q7Z5J2	Silent	SNP	pfam_TNF,superfamily_Tumour_necrosis_fac-like,pfscan_TNF	p.E182	ENST00000375887.4	37	c.546	CCDS9509.1	13																																																																																			TNFSF13B	-	pfam_TNF,superfamily_Tumour_necrosis_fac-like,pfscan_TNF		0.358	TNFSF13B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TNFSF13B	HGNC	protein_coding	OTTHUMT00000045739.3	G			108955665	+1	no_errors	ENST00000375887	ensembl	human	known	70_37	silent	SNP	0.998	A
TNRC6A	27327	genome.wustl.edu	37	16	24835021	24835021	+	Missense_Mutation	SNP	C	C	A			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr16:24835021C>A	ENST00000395799.3	+	25	5911	c.5782C>A	c.(5782-5784)Ctg>Atg	p.L1928M	TNRC6A_ENST00000432286.2_Missense_Mutation_p.L406M|TNRC6A_ENST00000315183.7_Missense_Mutation_p.L1879M	NM_014494.2	NP_055309.2	Q8NDV7	TNR6A_HUMAN	trinucleotide repeat containing 6A	1928	Sufficient for interaction with AGO2.				cellular response to starvation (GO:0009267)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|innate immune response (GO:0045087)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)	cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|micro-ribonucleoprotein complex (GO:0035068)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(13)|kidney(5)|large_intestine(13)|liver(1)|lung(20)|ovary(3)|skin(2)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64				GBM - Glioblastoma multiforme(48;0.0394)		TTCCACAAGCCTGTGGGGTCC	0.577																																																	0													72.0	79.0	77.0					16																	24835021		2197	4300	6497	SO:0001583	missense	27327			U80739	CCDS10624.2	16p11.2	2009-09-22	2004-12-17	2004-12-17	ENSG00000090905	ENSG00000090905		"""Trinucleotide (CAG) repeat containing"""	11969	protein-coding gene	gene with protein product		610739	"""trinucleotide repeat containing 6"""	TNRC6		9225980	Standard	NM_014494		Approved	CAGH26, KIAA1460, GW182	uc002dmm.3	Q8NDV7	OTTHUMG00000096999	ENST00000395799.3:c.5782C>A	16.37:g.24835021C>A	ENSP00000379144:p.Leu1928Met	Somatic		WXS	Illumina HiSeq	Phase_IV	C9JAR8|O15408|Q658L5|Q6NVB5|Q8NEZ0|Q8TBT8|Q8TCR0|Q9NV59|Q9P268	Missense_Mutation	SNP	pfam_Argonaute_hook_dom,superfamily_UBA-like	p.L1928M	ENST00000395799.3	37	c.5782	CCDS10624.2	16	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	c|c	14.42|14.42	2.530064|2.530064	0.45073|0.45073	.|.	.|.	ENSG00000090905|ENSG00000090905	ENST00000315183;ENST00000395799;ENST00000432286|ENST00000450465	T;T|.	0.48522|.	0.92;0.81|.	5.64|5.64	3.69|3.69	0.42338|0.42338	.|.	0.000000|.	0.64402|.	D|.	0.000003|.	T|T	0.71013|0.71013	0.3290|0.3290	M|M	0.76838|0.76838	2.35|2.35	0.53688|0.53688	D|D	0.999975|0.999975	D;D|.	0.76494|.	0.999;0.999|.	D;D|.	0.87578|.	0.998;0.997|.	T|T	0.69320|0.69320	-0.5176|-0.5176	10|5	0.54805|.	T|.	0.06|.	-3.3725|-3.3725	9.8692|9.8692	0.41164|0.41164	0.0:0.7904:0.0:0.2096|0.0:0.7904:0.0:0.2096	.|.	1879;1928|.	Q8NDV7-6;Q8NDV7|.	.;TNR6A_HUMAN|.	M|H	1879;1928;406|818	ENSP00000326900:L1879M;ENSP00000379144:L1928M|.	ENSP00000326900:L1879M|.	L|P	+|+	1|2	2|0	TNRC6A|TNRC6A	24742522|24742522	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	3.093000|3.093000	0.50217|0.50217	0.733000|0.733000	0.32492|0.32492	0.651000|0.651000	0.88453|0.88453	CTG|CCT	TNRC6A	-	NULL		0.577	TNRC6A-001	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	TNRC6A	HGNC	protein_coding	OTTHUMT00000214081.1	C	NM_020847		24835021	+1	no_errors	ENST00000395799	ensembl	human	known	70_37	missense	SNP	1.000	A
TOMM34	10953	genome.wustl.edu	37	20	43572097	43572097	+	Silent	SNP	G	G	C			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr20:43572097G>C	ENST00000372813.3	-	6	974	c.822C>G	c.(820-822)ctC>ctG	p.L274L	PABPC1L_ENST00000372819.1_Intron|PABPC1L_ENST00000490798.1_Intron	NM_006809.4	NP_006800.2	Q15785	TOM34_HUMAN	translocase of outer mitochondrial membrane 34	274					protein targeting to mitochondrion (GO:0006626)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|nucleus (GO:0005634)	heat shock protein binding (GO:0031072)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)	11		Myeloproliferative disorder(115;0.0122)				TTTTTACCTTGAGTGCTTTGT	0.473																																																	0													162.0	147.0	152.0					20																	43572097		2203	4300	6503	SO:0001819	synonymous_variant	10953			U58970	CCDS13340.1	20q12-q13.1	2013-01-10			ENSG00000025772	ENSG00000025772		"""Tetratricopeptide (TTC) repeat domain containing"""	15746	protein-coding gene	gene with protein product	"""outer mitochondrial membrane translocase (34kD)"""					9324309	Standard	NM_006809		Approved	TOM34, HTOM34P	uc002xmy.3	Q15785	OTTHUMG00000032552	ENST00000372813.3:c.822C>G	20.37:g.43572097G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	Q53GH9|Q6IBN7|Q9NTZ3	Silent	SNP	pfam_TPR-1,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.L274	ENST00000372813.3	37	c.822	CCDS13340.1	20																																																																																			TOMM34	-	smart_TPR_repeat,pfscan_TPR-contain_dom		0.473	TOMM34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TOMM34	HGNC	protein_coding	OTTHUMT00000079390.3	G	NM_006809		43572097	-1	no_errors	ENST00000372813	ensembl	human	known	70_37	silent	SNP	1.000	C
TOMM70A	9868	genome.wustl.edu	37	3	100105139	100105139	+	Missense_Mutation	SNP	T	T	A			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr3:100105139T>A	ENST00000284320.5	-	3	996	c.548A>T	c.(547-549)aAt>aTt	p.N183I		NM_014820.4	NP_055635.3	O94826	TOM70_HUMAN	translocase of outer mitochondrial membrane 70 homolog A (S. cerevisiae)	183					cellular protein metabolic process (GO:0044267)|protein targeting to mitochondrion (GO:0006626)|protein transmembrane transport (GO:0071806)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial outer membrane translocase complex (GO:0005742)|mitochondrion (GO:0005739)	protein transmembrane transporter activity (GO:0008320)			endometrium(11)|large_intestine(5)|lung(10)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	32						ATATTTGGGATTAAGTTCAAC	0.343																																																	0													162.0	155.0	158.0					3																	100105139		2202	4300	6502	SO:0001583	missense	9868			AB018262	CCDS33807.1	3q12.2	2013-01-10	2006-04-04		ENSG00000154174	ENSG00000154174		"""Tetratricopeptide (TTC) repeat domain containing"""	11985	protein-coding gene	gene with protein product		606081	"""translocase of outer mitochondrial membrane 70 (yeast) homolog A"", ""translocase of outer mitochondrial membrane 70 homolog A (yeast)"""			10582581	Standard	NM_014820		Approved	KIAA0719	uc003dtw.3	O94826	OTTHUMG00000159065	ENST00000284320.5:c.548A>T	3.37:g.100105139T>A	ENSP00000284320:p.Asn183Ile	Somatic		WXS	Illumina HiSeq	Phase_IV	D3DN48	Missense_Mutation	SNP	pfam_TPR-1,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.N183I	ENST00000284320.5	37	c.548	CCDS33807.1	3	.	.	.	.	.	.	.	.	.	.	T	28.3	4.904490	0.92035	.	.	ENSG00000154174	ENST00000284320;ENST00000544924	T	0.60672	0.17	6.07	6.07	0.98685	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.000000	0.85682	D	0.000000	D	0.84817	0.5556	H	0.97291	3.975	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	D	0.90045	0.4145	10	0.72032	D	0.01	-24.9348	16.6407	0.85098	0.0:0.0:0.0:1.0	.	183	O94826	TOM70_HUMAN	I	183;76	ENSP00000284320:N183I	ENSP00000284320:N183I	N	-	2	0	TOMM70A	101587829	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.482000	0.81143	2.326000	0.78906	0.533000	0.62120	AAT	TOMM70A	-	pfam_TPR-1,smart_TPR_repeat,pfscan_TPR-contain_dom		0.343	TOMM70A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TOMM70A	HGNC	protein_coding	OTTHUMT00000353141.2	T			100105139	-1	no_errors	ENST00000284320	ensembl	human	known	70_37	missense	SNP	1.000	A
TOMM70A	9868	genome.wustl.edu	37	3	100105146	100105146	+	Missense_Mutation	SNP	C	C	G			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr3:100105146C>G	ENST00000284320.5	-	3	989	c.541G>C	c.(541-543)Gaa>Caa	p.E181Q		NM_014820.4	NP_055635.3	O94826	TOM70_HUMAN	translocase of outer mitochondrial membrane 70 homolog A (S. cerevisiae)	181					cellular protein metabolic process (GO:0044267)|protein targeting to mitochondrion (GO:0006626)|protein transmembrane transport (GO:0071806)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial outer membrane translocase complex (GO:0005742)|mitochondrion (GO:0005739)	protein transmembrane transporter activity (GO:0008320)			endometrium(11)|large_intestine(5)|lung(10)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)	32						GGATTAAGTTCAACAGCTTTT	0.338																																																	0													162.0	154.0	157.0					3																	100105146		2202	4300	6502	SO:0001583	missense	9868			AB018262	CCDS33807.1	3q12.2	2013-01-10	2006-04-04		ENSG00000154174	ENSG00000154174		"""Tetratricopeptide (TTC) repeat domain containing"""	11985	protein-coding gene	gene with protein product		606081	"""translocase of outer mitochondrial membrane 70 (yeast) homolog A"", ""translocase of outer mitochondrial membrane 70 homolog A (yeast)"""			10582581	Standard	NM_014820		Approved	KIAA0719	uc003dtw.3	O94826	OTTHUMG00000159065	ENST00000284320.5:c.541G>C	3.37:g.100105146C>G	ENSP00000284320:p.Glu181Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	D3DN48	Missense_Mutation	SNP	pfam_TPR-1,pfam_TPR_2,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.E181Q	ENST00000284320.5	37	c.541	CCDS33807.1	3	.	.	.	.	.	.	.	.	.	.	C	20.6	4.023834	0.75390	.	.	ENSG00000154174	ENST00000284320;ENST00000544924	T	0.60171	0.21	6.07	6.07	0.98685	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.042031	0.85682	D	0.000000	T	0.62011	0.2393	M	0.62154	1.92	0.80722	D	1	P	0.38617	0.64	B	0.40602	0.334	T	0.58572	-0.7613	10	0.36615	T	0.2	-17.8614	20.6593	0.99626	0.0:1.0:0.0:0.0	.	181	O94826	TOM70_HUMAN	Q	181;74	ENSP00000284320:E181Q	ENSP00000284320:E181Q	E	-	1	0	TOMM70A	101587836	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.277000	0.78572	2.885000	0.99019	0.655000	0.94253	GAA	TOMM70A	-	pfam_TPR-1,smart_TPR_repeat,pfscan_TPR-contain_dom		0.338	TOMM70A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TOMM70A	HGNC	protein_coding	OTTHUMT00000353141.2	C			100105146	-1	no_errors	ENST00000284320	ensembl	human	known	70_37	missense	SNP	1.000	G
TONSL	4796	genome.wustl.edu	37	8	145659401	145659401	+	Missense_Mutation	SNP	C	C	T			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr8:145659401C>T	ENST00000409379.3	-	21	3376	c.3347G>A	c.(3346-3348)cGc>cAc	p.R1116H	AC084125.4_ENST00000544423.1_RNA	NM_013432.4	NP_038460.4	Q96HA7	TONSL_HUMAN	tonsoku-like, DNA repair protein	1116					cytoplasmic sequestering of transcription factor (GO:0042994)|double-strand break repair via homologous recombination (GO:0000724)|regulation of RNA biosynthetic process (GO:2001141)|replication fork processing (GO:0031297)	cytoplasm (GO:0005737)|nuclear replication fork (GO:0043596)|nucleus (GO:0005634)	histone binding (GO:0042393)|transcription corepressor activity (GO:0003714)			biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|lung(14)|ovary(3)|prostate(1)|skin(1)	26						GGCAAGCTGGCGCAGGCCTTC	0.652																																																	0													23.0	26.0	25.0					8																	145659401		2200	4300	6500	SO:0001583	missense	4796				CCDS34968.2	8q24.3	2013-01-10	2010-12-02	2010-11-30	ENSG00000160949	ENSG00000160949		"""Ankyrin repeat domain containing"""	7801	protein-coding gene	gene with protein product		604546	"""nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor-like 2"""	NFKBIL2		7738005, 11246458	Standard	NM_013432		Approved	IKBR	uc011llg.2	Q96HA7	OTTHUMG00000153122	ENST00000409379.3:c.3347G>A	8.37:g.145659401C>T	ENSP00000386239:p.Arg1116His	Somatic		WXS	Illumina HiSeq	Phase_IV	B5MDP0|C9JKB1|C9JNV8|Q13006|Q9UGJ2	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_TPR_repeat,smart_Ankyrin_rpt,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_TPR-contain_dom,prints_Ankyrin_rpt	p.R1116H	ENST00000409379.3	37	c.3347	CCDS34968.2	8	.	.	.	.	.	.	.	.	.	.	C	9.923	1.212735	0.22289	.	.	ENSG00000160949	ENST00000409379;ENST00000422691	T	0.53857	0.6	5.35	0.813	0.18749	.	0.352353	0.29631	N	0.011606	T	0.30759	0.0775	N	0.16478	0.41	0.30372	N	0.782807	B	0.15473	0.013	B	0.12156	0.007	T	0.14364	-1.0475	10	0.46703	T	0.11	-12.6451	6.3413	0.21324	0.0:0.4559:0.0:0.5441	.	1116	Q96HA7	TONSL_HUMAN	H	1116;1115	ENSP00000386239:R1116H	ENSP00000386239:R1116H	R	-	2	0	TONSL	145630209	0.003000	0.15002	0.121000	0.21740	0.563000	0.35712	0.667000	0.25112	0.216000	0.20781	0.462000	0.41574	CGC	TONSL	-	smart_Leu-rich_rpt_RNase_inh_sub-typ		0.652	TONSL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TONSL	HGNC	protein_coding	OTTHUMT00000329668.2	C	NM_013432		145659401	-1	no_errors	ENST00000409379	ensembl	human	known	70_37	missense	SNP	0.491	T
TONSL	4796	genome.wustl.edu	37	8	145661528	145661528	+	Missense_Mutation	SNP	G	G	A			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr8:145661528G>A	ENST00000409379.3	-	17	2317	c.2288C>T	c.(2287-2289)tCg>tTg	p.S763L	AC084125.4_ENST00000544423.1_RNA|AC084125.4_ENST00000442850.1_RNA	NM_013432.4	NP_038460.4	Q96HA7	TONSL_HUMAN	tonsoku-like, DNA repair protein	763					cytoplasmic sequestering of transcription factor (GO:0042994)|double-strand break repair via homologous recombination (GO:0000724)|regulation of RNA biosynthetic process (GO:2001141)|replication fork processing (GO:0031297)	cytoplasm (GO:0005737)|nuclear replication fork (GO:0043596)|nucleus (GO:0005634)	histone binding (GO:0042393)|transcription corepressor activity (GO:0003714)			biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|lung(14)|ovary(3)|prostate(1)|skin(1)	26						TGCTGTGGCCGAGCACCGAGG	0.711																																																	0													7.0	9.0	8.0					8																	145661528		2153	4239	6392	SO:0001583	missense	4796				CCDS34968.2	8q24.3	2013-01-10	2010-12-02	2010-11-30	ENSG00000160949	ENSG00000160949		"""Ankyrin repeat domain containing"""	7801	protein-coding gene	gene with protein product		604546	"""nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor-like 2"""	NFKBIL2		7738005, 11246458	Standard	NM_013432		Approved	IKBR	uc011llg.2	Q96HA7	OTTHUMG00000153122	ENST00000409379.3:c.2288C>T	8.37:g.145661528G>A	ENSP00000386239:p.Ser763Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	B5MDP0|C9JKB1|C9JNV8|Q13006|Q9UGJ2	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_TPR_repeat,smart_Ankyrin_rpt,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_TPR-contain_dom,prints_Ankyrin_rpt	p.S763L	ENST00000409379.3	37	c.2288	CCDS34968.2	8	.	.	.	.	.	.	.	.	.	.	G	3.573	-0.087194	0.07097	.	.	ENSG00000160949	ENST00000409379;ENST00000422691	T	0.43688	0.94	3.71	-2.51	0.06365	.	0.947489	0.08755	N	0.898505	T	0.26159	0.0638	L	0.36672	1.1	0.09310	N	1	B	0.06786	0.001	B	0.01281	0.0	T	0.21415	-1.0246	10	0.25751	T	0.34	-4.5159	3.645	0.08181	0.3244:0.0:0.3824:0.2932	.	763	Q96HA7	TONSL_HUMAN	L	763;762	ENSP00000386239:S763L	ENSP00000386239:S763L	S	-	2	0	TONSL	145632336	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.394000	0.07296	-0.784000	0.04528	-2.754000	0.00123	TCG	TONSL	-	NULL		0.711	TONSL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TONSL	HGNC	protein_coding	OTTHUMT00000329668.2	G	NM_013432		145661528	-1	no_errors	ENST00000409379	ensembl	human	known	70_37	missense	SNP	0.000	A
TOP3A	7156	genome.wustl.edu	37	17	18194243	18194243	+	Silent	SNP	G	G	A			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr17:18194243G>A	ENST00000321105.5	-	12	1594	c.1380C>T	c.(1378-1380)atC>atT	p.I460I	TOP3A_ENST00000540524.1_5'UTR|TOP3A_ENST00000542570.1_Silent_p.I365I	NM_004618.3	NP_004609.1	Q13472	TOP3A_HUMAN	topoisomerase (DNA) III alpha	460					DNA topological change (GO:0006265)|meiotic nuclear division (GO:0007126)	chromosome (GO:0005694)|nucleus (GO:0005634)|PML body (GO:0016605)	DNA binding (GO:0003677)|DNA topoisomerase type I activity (GO:0003917)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(15)|ovary(1)|skin(6)|stomach(2)|urinary_tract(1)	36						GTTCCTGAGCGATGTCGATCT	0.512																																																	0													131.0	123.0	126.0					17																	18194243		2203	4300	6503	SO:0001819	synonymous_variant	7156			U43431	CCDS11194.1	17p12-p11.2	2014-02-18			ENSG00000177302	ENSG00000177302			11992	protein-coding gene	gene with protein product	"""zinc finger, GRF-type containing 7"""	601243		TOP3		9450867	Standard	NM_004618		Approved	ZGRF7	uc002gsx.1	Q13472	OTTHUMG00000059391	ENST00000321105.5:c.1380C>T	17.37:g.18194243G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	A8KA61|B4DK80|D3DXC7|Q13473	Silent	SNP	pfam_Topo_IA_cen,pfam_Znf_GRF,pfam_Toprim_domain,pfam_Topo_IA_Znf,superfamily_Topo_IA_core_domain,superfamily_Znf_CCHC,smart_Toprim_domain,smart_Topo_IA_2,smart_Topo_IA_DNA-bd,prints_Topo_IA	p.I460	ENST00000321105.5	37	c.1380	CCDS11194.1	17																																																																																			TOP3A	-	pfam_Topo_IA_cen,superfamily_Topo_IA_core_domain,smart_Topo_IA_DNA-bd		0.512	TOP3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TOP3A	HGNC	protein_coding	OTTHUMT00000132052.2	G			18194243	-1	no_errors	ENST00000321105	ensembl	human	known	70_37	silent	SNP	0.820	A
TPD52L3	89882	genome.wustl.edu	37	9	6328621	6328621	+	Missense_Mutation	SNP	C	C	G			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr9:6328621C>G	ENST00000344545.5	+	1	273	c.26C>G	c.(25-27)tCt>tGt	p.S9C	TPD52L3_ENST00000381428.1_Missense_Mutation_p.S9C|TPD52L3_ENST00000314556.3_Missense_Mutation_p.S9C	NM_033516.5	NP_277051	Q96J77	TPD55_HUMAN	tumor protein D52-like 3	9										large_intestine(1)|lung(9)|skin(1)	11		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.0198)|Lung(218;0.1)		ACAGAGACCTCTGTGGGCACA	0.483																																																	0													89.0	92.0	91.0					9																	6328621		2203	4300	6503	SO:0001583	missense	89882			AY032877	CCDS34984.1, CCDS34985.1, CCDS34986.1	9p24.1	2008-02-05			ENSG00000170777	ENSG00000170777			23382	protein-coding gene	gene with protein product							Standard	NM_033516		Approved	NYD-SP25	uc003zjw.3	Q96J77	OTTHUMG00000019518	ENST00000344545.5:c.26C>G	9.37:g.6328621C>G	ENSP00000341677:p.Ser9Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q5TCR3|Q5TCR4|Q5TCR5|Q8N4P5|Q8WWF7|Q96M09	Missense_Mutation	SNP	pfam_TPD52	p.S9C	ENST00000344545.5	37	c.26	CCDS34986.1	9	.	.	.	.	.	.	.	.	.	.	C	18.47	3.629989	0.67015	.	.	ENSG00000170777	ENST00000344545;ENST00000381428;ENST00000314556	T;T;T	0.24723	1.84;1.84;1.84	4.74	1.82	0.25136	.	0.327597	0.29093	N	0.013174	T	0.39145	0.1067	M	0.68317	2.08	0.09310	N	1	D;D;D	0.76494	0.995;0.999;0.998	P;D;P	0.65323	0.874;0.934;0.891	T	0.12656	-1.0539	10	0.54805	T	0.06	-0.5434	4.9644	0.14083	0.0:0.6356:0.1735:0.1909	.	9;9;9	Q96J77-2;Q96J77;Q96J77-3	.;TPD55_HUMAN;.	C	9	ENSP00000341677:S9C;ENSP00000370836:S9C;ENSP00000318665:S9C	ENSP00000318665:S9C	S	+	2	0	TPD52L3	6318621	0.000000	0.05858	0.004000	0.12327	0.842000	0.47809	0.143000	0.16115	0.298000	0.22638	0.511000	0.50034	TCT	TPD52L3	-	pfam_TPD52		0.483	TPD52L3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TPD52L3	HGNC	protein_coding	OTTHUMT00000051658.1	C	NM_033516		6328621	+1	no_errors	ENST00000344545	ensembl	human	known	70_37	missense	SNP	0.001	G
TPT1-AS1	100190939	genome.wustl.edu	37	13	45963874	45963874	+	RNA	SNP	A	A	C	rs533483571|rs200606044	byFrequency	TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr13:45963874A>C	ENST00000517509.1	+	0	993				TPT1-AS1_ENST00000519454.1_RNA|TPT1-AS1_ENST00000520585.1_RNA|TPT1-AS1_ENST00000522673.1_RNA	NR_024458.1				TPT1 antisense RNA 1																		TAATAGAAAAACAAACAAAGA	0.323																																																	0																																												100190939			AF318337		13q14.13	2012-10-12	2012-08-15		ENSG00000170919	ENSG00000170919		"""Long non-coding RNAs"""	43686	non-coding RNA	RNA, long non-coding			"""TPT1 antisense RNA 1 (non-protein coding)"""				Standard	NR_024458		Approved		uc021rjh.1		OTTHUMG00000016851		13.37:g.45963874A>C		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000517509.1	37	NULL		13																																																																																			TPT1-AS1	-	-		0.323	TPT1-AS1-003	KNOWN	basic	antisense	TPT1-AS1	HGNC	antisense	OTTHUMT00000374919.1	A	NR_024458		45963874	+1	no_errors	ENST00000405697	ensembl	human	known	70_37	rna	SNP	0.913	C
TPTE	7179	genome.wustl.edu	37	21	10996072	10996072	+	5'UTR	SNP	G	G	A			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr21:10996072G>A	ENST00000415664.2	-	0	1413							P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology						peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	ion channel activity (GO:0005216)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		AATCTTTTCTGATCACAGATC	0.383																																																	0																																										SO:0001623	5_prime_UTR_variant	7179			AF007118	CCDS74771.1, CCDS74772.1, CCDS74773.1	21p11	2011-06-09			ENSG00000166157	ENSG00000274391		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	12023	protein-coding gene	gene with protein product	"""PTEN-related tyrosine phosphatase"", ""cancer/testis antigen 44"""	604336				10830953, 14659893	Standard	NM_001290224		Approved	PTEN2, CT44	uc002yip.1	P56180	OTTHUMG00000074127	ENST00000415664.2:c.-1923C>T	21.37:g.10996072G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	B2RAP7|C9J6D6|C9JKK8|Q6XPS4|Q6XPS5|Q71JA8|Q8NCS8	RNA	SNP	-	NULL	ENST00000415664.2	37	NULL		21																																																																																			TPTE	-	-		0.383	TPTE-006	KNOWN	basic	processed_transcript	TPTE	HGNC	protein_coding	OTTHUMT00000340030.1	G			10996072	-1	no_errors	ENST00000415664	ensembl	human	known	70_37	rna	SNP	0.933	A
TRAPPC12	51112	genome.wustl.edu	37	2	3391601	3391601	+	Silent	SNP	C	C	T			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr2:3391601C>T	ENST00000324266.5	+	2	402	c.207C>T	c.(205-207)agC>agT	p.S69S	TRAPPC12_ENST00000382110.2_Silent_p.S69S	NM_016030.5	NP_057114.5	Q8WVT3	TPC12_HUMAN	trafficking protein particle complex 12	69					vesicle-mediated transport (GO:0016192)												TGATGGAGAGCGTCCTCATCT	0.642																																																	0													56.0	48.0	50.0					2																	3391601		2203	4300	6503	SO:0001819	synonymous_variant	51112			BC017475	CCDS1652.1	2p25.3	2013-01-10	2011-12-12	2011-12-12	ENSG00000171853	ENSG00000171853		"""Trafficking protein particle complex"", ""Tetratricopeptide (TTC) repeat domain containing"""	24284	protein-coding gene	gene with protein product		614139	"""tetratricopeptide repeat domain 15"""	TTC15		10810093, 21525244, 20562859	Standard	NM_016030		Approved	CGI-87, TTC-15	uc002qxm.1	Q8WVT3	OTTHUMG00000090328	ENST00000324266.5:c.207C>T	2.37:g.3391601C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B3KV01|D6W4Y2|Q8WVW1|Q9Y395	Silent	SNP	smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.S69	ENST00000324266.5	37	c.207	CCDS1652.1	2																																																																																			TRAPPC12	-	NULL		0.642	TRAPPC12-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	TRAPPC12	HGNC	protein_coding	OTTHUMT00000206693.2	C	NM_016030		3391601	+1	no_errors	ENST00000324266	ensembl	human	known	70_37	silent	SNP	0.965	T
TRAPPC2P1	10597	genome.wustl.edu	37	19	57876218	57876218	+	Missense_Mutation	SNP	A	A	G			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr19:57876218A>G	ENST00000596755.1	+	1	1284	c.17A>G	c.(16-18)tAc>tGc	p.Y6C	ZNF547_ENST00000282282.3_Intron|TRAPPC2P1_ENST00000543226.1_Missense_Mutation_p.Y6C|AC003002.4_ENST00000597658.1_Intron			P0DI82	TPC2B_HUMAN	trafficking protein particle complex 2 pseudogene 1	6					ER to Golgi vesicle-mediated transport (GO:0006888)|transcription, DNA-templated (GO:0006351)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)				kidney(1)|lung(2)	3						GGAAGCTTCTACTTTGTAATT	0.498																																																	0																																										SO:0001583	missense	10597					19q13.43	2009-03-02	2009-03-02	2009-03-02		ENSG00000256060			10710	pseudogene	pseudogene			"""spondyloepiphyseal dysplasia, late, pseudogene"""	SEDLP			Standard	NR_002166		Approved	SEDLP1		P0DI82		ENST00000596755.1:c.17A>G	19.37:g.57876218A>G	ENSP00000469888:p.Tyr6Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NEG0|O14582|Q9HD16	Missense_Mutation	SNP	pfam_Sedlin,pfam_Sybindin,superfamily_Longin-like_dom	p.Y6C	ENST00000596755.1	37	c.17		19	.	.	.	.	.	.	.	.	.	.	A	9.510	1.105596	0.20632	.	.	ENSG00000256060	ENST00000543226	D	0.82984	-1.67	2.84	0.596	0.17496	.	0.000000	0.85682	D	0.000000	T	0.77857	0.4193	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.66372	-0.5940	7	0.27785	T	0.31	.	5.9111	0.19029	0.7431:0.0:0.2569:0.0	.	.	.	.	C	6	ENSP00000442778:Y6C	ENSP00000442778:Y6C	Y	+	2	0	AC003002.1	62568030	1.000000	0.71417	0.674000	0.29902	0.866000	0.49608	3.833000	0.55790	-0.056000	0.13221	0.397000	0.26171	TAC	TRAPPC2P1	-	superfamily_Longin-like_dom		0.498	TRAPPC2P1-003	PUTATIVE	basic|appris_principal	protein_coding	TRAPPC2P1	HGNC	protein_coding	OTTHUMT00000465929.1	A			57876218	+1	no_errors	ENST00000543226	ensembl	human	putative	70_37	missense	SNP	1.000	G
TRAPPC9	83696	genome.wustl.edu	37	8	141415695	141415695	+	Missense_Mutation	SNP	G	G	A			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr8:141415695G>A	ENST00000438773.2	-	6	1122	c.989C>T	c.(988-990)gCg>gTg	p.A330V	TRAPPC9_ENST00000389327.3_Missense_Mutation_p.A321V|TRAPPC9_ENST00000389328.4_Missense_Mutation_p.A428V	NM_001160372.1	NP_001153844.1	Q96Q05	TPPC9_HUMAN	trafficking protein particle complex 9	330					cell differentiation (GO:0030154)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)		p.A428V(1)		breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	47						ATAGGAAATCGCCTCTTTATA	0.408																																																	1	Substitution - Missense(1)	lung(1)											149.0	127.0	135.0					8																	141415695		2203	4300	6503	SO:0001583	missense	83696			BC006206	CCDS34946.1, CCDS55278.1	8q24.3	2010-10-22			ENSG00000167632	ENSG00000167632		"""Trafficking protein particle complex"""	30832	protein-coding gene	gene with protein product	"""TRAPP 120 kDa subunit"", ""tularik gene 1"""	611966				11572484	Standard	NM_031466		Approved	IKBKBBP, NIBP, KIAA1882, T1, TRS120, MRT13	uc003yvh.2	Q96Q05	OTTHUMG00000164187	ENST00000438773.2:c.989C>T	8.37:g.141415695G>A	ENSP00000405060:p.Ala330Val	Somatic		WXS	Illumina HiSeq	Phase_IV	Q4VTT3|Q658K7|Q6P149|Q6ZQT3|Q7L5C4|Q86Y21|Q96SL2|Q9BQA2	Missense_Mutation	SNP	pfam_TRAPP_II_complex_Trs120	p.A428V	ENST00000438773.2	37	c.1283	CCDS55278.1	8	.	.	.	.	.	.	.	.	.	.	G	33	5.246175	0.95272	.	.	ENSG00000167632	ENST00000389328;ENST00000389327;ENST00000438773	.	.	.	5.7	5.7	0.88788	.	0.000000	0.85682	D	0.000000	T	0.79907	0.4527	M	0.75615	2.305	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;0.999	T	0.79914	-0.1602	9	0.52906	T	0.07	.	18.612	0.91288	0.0:0.0:1.0:0.0	.	330;321;428	Q96Q05;Q96Q05-3;Q96Q05-2	TPPC9_HUMAN;.;.	V	428;321;330	.	ENSP00000373978:A321V	A	-	2	0	TRAPPC9	141484877	1.000000	0.71417	0.996000	0.52242	0.939000	0.58152	8.664000	0.91139	2.692000	0.91855	0.655000	0.94253	GCG	TRAPPC9	-	NULL		0.408	TRAPPC9-002	PUTATIVE	basic|CCDS	protein_coding	TRAPPC9	HGNC	protein_coding	OTTHUMT00000377749.1	G	NM_031466		141415695	-1	no_errors	ENST00000389328	ensembl	human	known	70_37	missense	SNP	1.000	A
TREML2	79865	genome.wustl.edu	37	6	41168713	41168714	+	In_Frame_Ins	INS	-	-	CAG			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr6:41168713_41168714insCAG	ENST00000483722.1	-	1	218_219	c.33_34insCTG	c.(31-36)ctgtgg>ctgCTGtgg	p.11_12insL		NM_024807.2	NP_079083.2	Q5T2D2	TRML2_HUMAN	triggering receptor expressed on myeloid cells-like 2	11					T cell activation (GO:0042110)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			breast(1)|central_nervous_system(1)|large_intestine(1)|lung(13)|ovary(1)|prostate(1)	18	Ovarian(28;0.0418)|Colorectal(47;0.196)					CCCTGTGGCCACAGCAGCAGCA	0.624																																																	0																																										SO:0001652	inframe_insertion	79865			AK023755	CCDS4853.1, CCDS4853.2	6p21.1	2013-01-11	2004-04-14	2004-04-16	ENSG00000112195	ENSG00000112195		"""Immunoglobulin superfamily / V-set domain containing"""	21092	protein-coding gene	gene with protein product	"""TREM-like transcript 2"""	609715	"""chromosome 6 open reading frame 76"""	C6orf76		12645956	Standard	NM_024807		Approved	FLJ13693, TLT2, dJ238O23.1	uc010jxm.1	Q5T2D2	OTTHUMG00000016349	ENST00000483722.1:c.31_33dupCTG	6.37:g.41168720_41168722dupCAG	ENSP00000418767:p.Leu11_Leu11dup	Somatic		WXS	Illumina HiSeq	Phase_IV	Q08AP8|Q08AP9|Q8IWY0|Q9H8E9	In_Frame_Ins	INS	pfam_Ig_V-set,pfscan_Ig-like	p.11in_frame_insL	ENST00000483722.1	37	c.34_33	CCDS4853.2	6																																																																																			TREML2	-	NULL		0.624	TREML2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TREML2	HGNC	protein_coding	OTTHUMT00000043756.3	-	NM_024807		41168714	-1	no_errors	ENST00000483722	ensembl	human	known	70_37	in_frame_ins	INS	1.000:0.997	CAG
TRIM24	8805	genome.wustl.edu	37	7	138252327	138252327	+	Missense_Mutation	SNP	G	G	C			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr7:138252327G>C	ENST00000343526.4	+	10	1847	c.1632G>C	c.(1630-1632)caG>caC	p.Q544H	TRIM24_ENST00000497516.1_3'UTR|TRIM24_ENST00000415680.2_Missense_Mutation_p.Q510H			O15164	TIF1A_HUMAN	tripartite motif containing 24	544					calcium ion homeostasis (GO:0055074)|cellular response to estrogen stimulus (GO:0071391)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autophosphorylation (GO:0046777)|protein catabolic process (GO:0030163)|protein ubiquitination (GO:0016567)|regulation of apoptotic process (GO:0042981)|regulation of protein stability (GO:0031647)|regulation of signal transduction by p53 class mediator (GO:1901796)|regulation of vitamin D receptor signaling pathway (GO:0070562)|response to peptide hormone (GO:0043434)|transcription from RNA polymerase II promoter (GO:0006366)	cytosol (GO:0005829)|nuclear euchromatin (GO:0005719)|nucleus (GO:0005634)|perichromatin fibrils (GO:0005726)	chromatin binding (GO:0003682)|estrogen response element binding (GO:0034056)|ligase activity (GO:0016874)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|protein kinase activity (GO:0004672)|receptor binding (GO:0005102)|sequence-specific DNA binding (GO:0043565)|transcription coactivator activity (GO:0003713)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(5)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(12)|ovary(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	40						CACCAAACCAGAACATACCAC	0.438																																					Pancreas(179;936 2074 16128 47811 50326)|Colon(136;168 1735 9344 12243 52014)												0													126.0	113.0	117.0					7																	138252327		2203	4300	6503	SO:0001583	missense	8805			AF009353	CCDS5847.1, CCDS47720.1	7q32-q34	2013-01-28	2011-01-25	2005-06-02	ENSG00000122779	ENSG00000122779		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"", ""Zinc fingers, PHD-type"""	11812	protein-coding gene	gene with protein product		603406	"""transcriptional intermediary factor 1"", ""tripartite motif-containing 24"""	TIF1		9115274, 9191165	Standard	NM_003852		Approved	hTIF1, Tif1a, RNF82, TIF1A	uc003vuc.3	O15164	OTTHUMG00000155820	ENST00000343526.4:c.1632G>C	7.37:g.138252327G>C	ENSP00000340507:p.Gln544His	Somatic		WXS	Illumina HiSeq	Phase_IV	A4D1R7|A4D1R8|O95854	Missense_Mutation	SNP	pfam_Bromodomain,pfam_Znf_B-box,pfam_Znf_PHD-finger,superfamily_Bromodomain,superfamily_Znf_FYVE_PHD,smart_Znf_RING,smart_Znf_B-box,smart_Bbox_C,smart_Znf_PHD,smart_Bromodomain,pfscan_Znf_B-box,pfscan_Znf_PHD-finger,pfscan_Znf_RING,pfscan_Bromodomain,prints_Bromodomain	p.Q544H	ENST00000343526.4	37	c.1632	CCDS5847.1	7	.	.	.	.	.	.	.	.	.	.	G	22.5	4.292885	0.80914	.	.	ENSG00000122779	ENST00000343526;ENST00000536822;ENST00000415680;ENST00000378381	T;T	0.77877	-1.1;-1.13	5.66	5.66	0.87406	.	0.313020	0.35124	N	0.003432	D	0.85729	0.5764	L	0.51422	1.61	0.52099	D	0.999941	D;D	0.71674	0.996;0.998	D;D	0.80764	0.986;0.994	D	0.84930	0.0859	10	0.48119	T	0.1	-2.784	19.3403	0.94337	0.0:0.0:1.0:0.0	.	544;510	O15164;O15164-2	TIF1A_HUMAN;.	H	544;455;510;468	ENSP00000340507:Q544H;ENSP00000390829:Q510H	ENSP00000340507:Q544H	Q	+	3	2	TRIM24	137902867	1.000000	0.71417	0.987000	0.45799	0.975000	0.68041	4.665000	0.61547	2.672000	0.90937	0.591000	0.81541	CAG	TRIM24	-	NULL		0.438	TRIM24-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TRIM24	HGNC	protein_coding	OTTHUMT00000341814.1	G	NM_015905		138252327	+1	no_errors	ENST00000343526	ensembl	human	known	70_37	missense	SNP	1.000	C
TRIM35	23087	genome.wustl.edu	37	8	27145235	27145235	+	Silent	SNP	C	C	T			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr8:27145235C>T	ENST00000305364.4	-	6	1397	c.1314G>A	c.(1312-1314)gaG>gaA	p.E438E	TRIM35_ENST00000521253.1_3'UTR	NM_171982.3	NP_741983.2	Q9UPQ4	TRI35_HUMAN	tripartite motif containing 35	438	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				apoptotic process (GO:0006915)|innate immune response (GO:0045087)|negative regulation of cell proliferation (GO:0008285)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of viral release from host cell (GO:1902187)|positive regulation of apoptotic process (GO:0043065)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	zinc ion binding (GO:0008270)			breast(1)|endometrium(6)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(1)	14		Ovarian(32;2.61e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0213)|Epithelial(17;9.34e-10)|Colorectal(74;0.141)		AGAAAGACAGCTCGCCCTCCT	0.682																																																	0													52.0	48.0	49.0					8																	27145235		2202	4297	6499	SO:0001819	synonymous_variant	23087			AB029021	CCDS6056.2	8p21.2	2013-01-09	2011-01-25		ENSG00000104228	ENSG00000104228		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	16285	protein-coding gene	gene with protein product			"""tripartite motif-containing 35"""			11331580, 14662771, 12692137	Standard	XM_005273451		Approved	KIAA1098, MAIR, HLS5	uc003xfl.1	Q9UPQ4	OTTHUMG00000102047	ENST00000305364.4:c.1314G>A	8.37:g.27145235C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q86XQ0|Q8WVA4	Silent	SNP	pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin	p.E438	ENST00000305364.4	37	c.1314	CCDS6056.2	8																																																																																			TRIM35	-	pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,prints_Butyrophylin		0.682	TRIM35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM35	HGNC	protein_coding	OTTHUMT00000219848.2	C	NM_171982		27145235	-1	no_errors	ENST00000305364	ensembl	human	known	70_37	silent	SNP	1.000	T
TRIM6	117854	genome.wustl.edu	37	11	5624476	5624476	+	5'UTR	SNP	G	G	A			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr11:5624476G>A	ENST00000278302.5	+	0	74				AC015691.13_ENST00000394793.2_RNA|TRIM6_ENST00000380107.1_5'UTR|TRIM6_ENST00000506134.1_Intron|TRIM6_ENST00000445329.1_Intron|TRIM6_ENST00000380097.3_Splice_Site_p.R6R|TRIM6-TRIM34_ENST00000354852.5_Splice_Site_p.R6R|TRIM6_ENST00000515022.1_Intron|HBG2_ENST00000380259.2_Intron|TRIM6_ENST00000507320.1_Intron	NM_001198645.1|NM_058166.4	NP_001185574.1|NP_477514.1	Q9C030	TRIM6_HUMAN	tripartite motif containing 6						protein trimerization (GO:0070206)	cytoplasm (GO:0005737)	zinc ion binding (GO:0008270)			breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(5)|prostate(2)|stomach(1)	22		Lung NSC(207;2.23e-07)|all_lung(207;1.81e-06)|Medulloblastoma(188;0.00225)|Breast(177;0.0101)|all_neural(188;0.0212)		Epithelial(150;1.12e-45)|BRCA - Breast invasive adenocarcinoma(625;0.00101)|LUSC - Lung squamous cell carcinoma(625;0.192)		ATCTACCTAGGATTCTACAGG	0.473																																																	0													67.0	60.0	63.0					11																	5624476		2201	4297	6498	SO:0001623	5_prime_UTR_variant	445372			AF220030	CCDS31389.1, CCDS31390.1, CCDS55738.1	11p15	2013-01-09	2011-01-25		ENSG00000121236	ENSG00000121236		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	16277	protein-coding gene	gene with protein product		607564	"""tripartite motif-containing 6"""			11331580	Standard	NM_058166		Approved	RNF89		Q9C030	OTTHUMG00000150029	ENST00000278302.5:c.-67G>A	11.37:g.5624476G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	A8K2A7|B4DDQ5|Q86WZ8|Q9HCR1	Silent	SNP	pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_Znf_B-box,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin	p.R6	ENST00000278302.5	37	c.18	CCDS31390.1	11																																																																																			TRIM6-TRIM34	-	NULL		0.473	TRIM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM6-TRIM34	HGNC	protein_coding	OTTHUMT00000143376.2	G	NM_001003818		5624476	+1	no_errors	ENST00000354852	ensembl	human	known	70_37	silent	SNP	0.000	A
TRIML1	339976	genome.wustl.edu	37	4	189060882	189060882	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr4:189060882G>A	ENST00000332517.3	+	1	310	c.170G>A	c.(169-171)tGg>tAg	p.W57*	RP11-366H4.3_ENST00000501322.2_RNA	NM_178556.3	NP_848651.2	Q8N9V2	TRIML_HUMAN	tripartite motif family-like 1	57					multicellular organismal development (GO:0007275)|protein ubiquitination (GO:0016567)		ligase activity (GO:0016874)|zinc ion binding (GO:0008270)	p.W57*(1)		NS(3)|breast(2)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(30)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	60		all_cancers(14;1.33e-43)|all_epithelial(14;7.86e-31)|all_lung(41;4.3e-13)|Lung NSC(41;9.69e-13)|Melanoma(20;7.86e-05)|Breast(6;0.000148)|Hepatocellular(41;0.0218)|Renal(120;0.0376)|Prostate(90;0.0513)|all_hematologic(60;0.062)		OV - Ovarian serous cystadenocarcinoma(60;1.52e-11)|BRCA - Breast invasive adenocarcinoma(30;4.19e-06)|GBM - Glioblastoma multiforme(59;0.000232)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.156)		CCTGAGTGCTGGAGGACCTTG	0.602																																					Melanoma(31;213 1036 16579 23968 32372)												1	Substitution - Nonsense(1)	skin(1)											120.0	122.0	121.0					4																	189060882		2203	4300	6503	SO:0001587	stop_gained	339976			AK093499	CCDS3851.1	4q35.2	2013-01-09			ENSG00000184108	ENSG00000184108		"""RING-type (C3HC4) zinc fingers"""	26698	protein-coding gene	gene with protein product						12477932	Standard	NM_178556		Approved	FLJ36180, RNF209	uc003izm.1	Q8N9V2	OTTHUMG00000160237	ENST00000332517.3:c.170G>A	4.37:g.189060882G>A	ENSP00000327738:p.Trp57*	Somatic		WXS	Illumina HiSeq	Phase_IV	Q96BE5	Nonsense_Mutation	SNP	pfam_SPRY_rcpt,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl_sf,smart_Znf_RING,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_RING,prints_Butyrophylin	p.W57*	ENST00000332517.3	37	c.170	CCDS3851.1	4	.	.	.	.	.	.	.	.	.	.	G	20.9	4.073192	0.76415	.	.	ENSG00000184108	ENST00000332517	.	.	.	5.59	4.74	0.60224	.	0.000000	0.48286	D	0.000186	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.45353	T	0.12	-16.8565	13.1649	0.59565	0.0823:0.0:0.9177:0.0	.	.	.	.	X	57	.	ENSP00000327738:W57X	W	+	2	0	TRIML1	189297876	0.996000	0.38824	1.000000	0.80357	0.065000	0.16274	2.065000	0.41442	2.804000	0.96469	0.655000	0.94253	TGG	TRIML1	-	NULL		0.602	TRIML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIML1	HGNC	protein_coding	OTTHUMT00000359813.1	G	NM_178556		189060882	+1	no_errors	ENST00000332517	ensembl	human	known	70_37	nonsense	SNP	1.000	A
TRIO	7204	genome.wustl.edu	37	5	14291265	14291265	+	Missense_Mutation	SNP	G	G	C			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr5:14291265G>C	ENST00000344204.4	+	5	1005	c.981G>C	c.(979-981)caG>caC	p.Q327H	TRIO_ENST00000509967.2_Missense_Mutation_p.Q278H|TRIO_ENST00000537187.1_Missense_Mutation_p.Q327H	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN	trio Rho guanine nucleotide exchange factor	327					apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	cytosol (GO:0005829)	ATP binding (GO:0005524)|guanyl-nucleotide exchange factor activity (GO:0005085)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118	Lung NSC(4;0.000742)					ATCTGCACCAGATGTGGCATG	0.567																																																	0													53.0	51.0	52.0					5																	14291265		2203	4300	6503	SO:0001583	missense	7204			AF091395	CCDS3883.1	5p14-p15.1	2013-01-11	2012-07-12		ENSG00000038382	ENSG00000038382		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"""	12303	protein-coding gene	gene with protein product		601893	"""triple functional domain (PTPRF interacting)"""			8643598	Standard	NM_007118		Approved	ARHGEF23	uc003jff.3	O75962	OTTHUMG00000131057	ENST00000344204.4:c.981G>C	5.37:g.14291265G>C	ENSP00000339299:p.Gln327His	Somatic		WXS	Illumina HiSeq	Phase_IV	D3DTD1|Q13458|Q59EQ7|Q6PJC9|Q6ZN05|Q8IWK8	Missense_Mutation	SNP	pfam_DH-domain,pfam_Prot_kinase_cat_dom,pfam_Spectrin_repeat,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ig_I-set,pfam_SH3_domain,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_SH3_domain,superfamily_CRAL-TRIO_dom,superfamily_Capsid/spike_ssDNA_virus,smart_CRAL-TRIO_dom,smart_Spectrin/alpha-actinin,smart_DH-domain,smart_Pleckstrin_homology,smart_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_CRAL-TRIO_dom,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,pfscan_DH-domain	p.Q327H	ENST00000344204.4	37	c.981	CCDS3883.1	5	.	.	.	.	.	.	.	.	.	.	G	18.41	3.617710	0.66787	.	.	ENSG00000038382	ENST00000344204;ENST00000537187;ENST00000509967;ENST00000513206	T;T;T	0.67698	-0.28;-0.28;-0.28	5.04	5.04	0.67666	.	0.000000	0.85682	D	0.000000	D	0.82453	0.5040	M	0.79475	2.455	0.80722	D	1	D;D	0.76494	0.999;0.99	D;D	0.91635	0.999;0.979	D	0.83760	0.0214	10	0.51188	T	0.08	.	18.3833	0.90457	0.0:0.0:1.0:0.0	.	278;327	F5H228;O75962	.;TRIO_HUMAN	H	327;327;278;14	ENSP00000339299:Q327H;ENSP00000446348:Q327H;ENSP00000445592:Q278H	ENSP00000339299:Q327H	Q	+	3	2	TRIO	14344265	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.984000	0.88150	2.355000	0.79922	0.462000	0.41574	CAG	TRIO	-	smart_Spectrin/alpha-actinin		0.567	TRIO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIO	HGNC	protein_coding	OTTHUMT00000253711.2	G	NM_007118		14291265	+1	no_errors	ENST00000344204	ensembl	human	known	70_37	missense	SNP	1.000	C
TRIO	7204	genome.wustl.edu	37	5	14316834	14316834	+	Silent	SNP	C	C	T			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr5:14316834C>T	ENST00000344204.4	+	9	1737	c.1713C>T	c.(1711-1713)ttC>ttT	p.F571F	TRIO_ENST00000509967.2_Silent_p.F522F|TRIO_ENST00000537187.1_Silent_p.F571F	NM_007118.2	NP_009049.2	O75962	TRIO_HUMAN	trio Rho guanine nucleotide exchange factor	571					apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	cytosol (GO:0005829)	ATP binding (GO:0005524)|guanyl-nucleotide exchange factor activity (GO:0005085)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(2)|breast(6)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(21)|lung(34)|ovary(4)|prostate(2)|skin(11)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	118	Lung NSC(4;0.000742)					TGTGTGTTTTCCAGCAGGACG	0.527																																																	0													37.0	37.0	37.0					5																	14316834		2203	4300	6503	SO:0001819	synonymous_variant	7204			AF091395	CCDS3883.1	5p14-p15.1	2013-01-11	2012-07-12		ENSG00000038382	ENSG00000038382		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"""	12303	protein-coding gene	gene with protein product		601893	"""triple functional domain (PTPRF interacting)"""			8643598	Standard	NM_007118		Approved	ARHGEF23	uc003jff.3	O75962	OTTHUMG00000131057	ENST00000344204.4:c.1713C>T	5.37:g.14316834C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	D3DTD1|Q13458|Q59EQ7|Q6PJC9|Q6ZN05|Q8IWK8	Silent	SNP	pfam_DH-domain,pfam_Prot_kinase_cat_dom,pfam_Spectrin_repeat,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ig_I-set,pfam_SH3_domain,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_SH3_domain,superfamily_CRAL-TRIO_dom,superfamily_Capsid/spike_ssDNA_virus,smart_CRAL-TRIO_dom,smart_Spectrin/alpha-actinin,smart_DH-domain,smart_Pleckstrin_homology,smart_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_CRAL-TRIO_dom,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,pfscan_DH-domain	p.F571	ENST00000344204.4	37	c.1713	CCDS3883.1	5																																																																																			TRIO	-	pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin		0.527	TRIO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIO	HGNC	protein_coding	OTTHUMT00000253711.2	C	NM_007118		14316834	+1	no_errors	ENST00000344204	ensembl	human	known	70_37	silent	SNP	1.000	T
TRIP12	9320	genome.wustl.edu	37	2	230672494	230672494	+	Missense_Mutation	SNP	G	G	A	rs373429636		TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr2:230672494G>A	ENST00000283943.5	-	16	2460	c.2282C>T	c.(2281-2283)gCg>gTg	p.A761V	TRIP12_ENST00000389045.3_Missense_Mutation_p.A464V|TRIP12_ENST00000389044.4_Missense_Mutation_p.A809V|TRIP12_ENST00000543084.1_Intron	NM_001284214.1|NM_004238.1	NP_001271143.1|NP_004229.1	Q14669	TRIPC_HUMAN	thyroid hormone receptor interactor 12	761	WWE. {ECO:0000255|PROSITE- ProRule:PRU00248}.				cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|embryo development (GO:0009790)|negative regulation of double-strand break repair (GO:2000780)|negative regulation of histone H2A K63-linked ubiquitination (GO:1901315)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligase activity (GO:0016874)|thyroid hormone receptor binding (GO:0046966)|ubiquitin-protein transferase activity (GO:0004842)			breast(2)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(19)|lung(32)|ovary(5)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116)		CTGCCATATCGCACCATCTGT	0.433																																																	0								G	VAL/ALA	1,4405	2.1+/-5.4	0,1,2202	169.0	135.0	147.0		2282	5.2	1.0	2		147	1,8599	1.2+/-3.3	0,1,4299	no	missense	TRIP12	NM_004238.1	64	0,2,6501	AA,AG,GG		0.0116,0.0227,0.0154	probably-damaging	761/1993	230672494	2,13004	2203	4300	6503	SO:0001583	missense	9320			L40383	CCDS33391.1, CCDS63145.1, CCDS63146.1	2q36.3	2008-05-27			ENSG00000153827	ENSG00000153827			12306	protein-coding gene	gene with protein product		604506				7776974	Standard	XM_005246961		Approved	KIAA0045	uc002vpw.1	Q14669	OTTHUMG00000153623	ENST00000283943.5:c.2282C>T	2.37:g.230672494G>A	ENSP00000283943:p.Ala761Val	Somatic		WXS	Illumina HiSeq	Phase_IV	D4HL82|Q14CA3|Q14CF1|Q15644|Q53R87|Q53TE7	Missense_Mutation	SNP	pfam_HECT,superfamily_HECT,superfamily_ARM-type_fold,smart_HECT,pfscan_HECT,pfscan_WWE-dom	p.A761V	ENST00000283943.5	37	c.2282	CCDS33391.1	2	.	.	.	.	.	.	.	.	.	.	G	15.56	2.870042	0.51588	2.27E-4	1.16E-4	ENSG00000153827	ENST00000283943;ENST00000389045;ENST00000389044	T;T;T	0.38560	1.75;1.13;1.75	5.23	5.23	0.72850	WWE domain (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.45418	0.1341	N	0.17474	0.49	0.80722	D	1	D;D;D;D	0.76494	0.999;0.999;0.998;0.998	D;D;P;P	0.64877	0.93;0.929;0.868;0.768	T	0.21075	-1.0256	10	0.10111	T	0.7	.	19.1761	0.93603	0.0:0.0:1.0:0.0	.	767;464;809;761	D4HL82;Q14CF1;Q14CA3;Q14669	.;.;.;TRIPC_HUMAN	V	761;464;809	ENSP00000283943:A761V;ENSP00000373697:A464V;ENSP00000373696:A809V	ENSP00000283943:A761V	A	-	2	0	TRIP12	230380738	1.000000	0.71417	0.993000	0.49108	0.921000	0.55340	9.650000	0.98490	2.602000	0.87976	0.467000	0.42956	GCG	TRIP12	-	superfamily_ARM-type_fold,pfscan_WWE-dom		0.433	TRIP12-001	KNOWN	basic|CCDS	protein_coding	TRIP12	HGNC	protein_coding	OTTHUMT00000331861.3	G	NM_004238		230672494	-1	no_errors	ENST00000283943	ensembl	human	known	70_37	missense	SNP	1.000	A
ART5	116969	genome.wustl.edu	37	11	3658459	3658459	+	IGR	SNP	C	C	T			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr11:3658459C>T	ENST00000397068.3	-	0	1504				TRPC2_ENST00000526541.1_RNA	NM_053017.3	NP_443750.2	Q96L15	NAR5_HUMAN	ADP-ribosyltransferase 5						protein ADP-ribosylation (GO:0006471)	extracellular region (GO:0005576)|membrane (GO:0016020)	NAD(P)+-protein-arginine ADP-ribosyltransferase activity (GO:0003956)|NAD+ ADP-ribosyltransferase activity (GO:0003950)|NAD+ nucleosidase activity (GO:0003953)			breast(1)|central_nervous_system(1)|large_intestine(2)|lung(6)|ovary(1)	11		Medulloblastoma(188;0.0025)|Breast(177;0.00328)|all_neural(188;0.0227)		BRCA - Breast invasive adenocarcinoma(625;0.0336)|LUSC - Lung squamous cell carcinoma(625;0.19)		AGCCGGTGTGCGGTGAACTCT	0.597																																																	0																																										SO:0001628	intergenic_variant	7221			Y16835	CCDS7743.1, CCDS73242.1	11p15.4	2008-02-05			ENSG00000167311	ENSG00000167311			24049	protein-coding gene	gene with protein product		610625				11587854, 10448534	Standard	NM_001079536		Approved		uc001lyb.1	Q96L15	OTTHUMG00000011842		11.37:g.3658459C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	C9IYG7|Q6UX84|Q86W02	RNA	SNP	-	NULL	ENST00000397068.3	37	NULL	CCDS7743.1	11																																																																																			TRPC2	-	-		0.597	ART5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRPC2	HGNC	protein_coding	OTTHUMT00000032760.2	C	NM_053017		3658459	+1	no_errors	ENST00000526541	ensembl	human	known	70_37	rna	SNP	0.834	T
TRPC7	57113	genome.wustl.edu	37	5	135561831	135561831	+	Missense_Mutation	SNP	A	A	C			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr5:135561831A>C	ENST00000513104.1	-	9	2435	c.2153T>G	c.(2152-2154)tTt>tGt	p.F718C	TRPC7_ENST00000426057.2_Missense_Mutation_p.F602C|TRPC7_ENST00000355180.3_Missense_Mutation_p.F657C	NM_020389.2	NP_065122.1	Q9HCX4	TRPC7_HUMAN	transient receptor potential cation channel, subfamily C, member 7	718					axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|manganese ion transport (GO:0006828)|platelet activation (GO:0030168)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)			NS(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(3)	46			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			GAGATAATAAAATGATTTAGG	0.403																																																	0													64.0	59.0	61.0					5																	135561831		1863	4085	5948	SO:0001583	missense	57113			AJ272034	CCDS47267.1, CCDS47267.2, CCDS54905.1, CCDS54906.1	5q31.2	2011-12-14			ENSG00000069018	ENSG00000069018		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	20754	protein-coding gene	gene with protein product						11805119, 16382100	Standard	NM_020389		Approved		uc003lbn.2	Q9HCX4	OTTHUMG00000162035	ENST00000513104.1:c.2153T>G	5.37:g.135561831A>C	ENSP00000426070:p.Phe718Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	A1A4Z4|F5H5U9|Q70T26|Q8IWP7	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_TRP_dom,pfam_PKD1_2_channel,superfamily_Ankyrin_rpt-contain_dom,superfamily_ARM-type_fold,smart_Ankyrin_rpt,prints_TRPC7_channel,prints_TRPC_channel,tigrfam_TRP_channel	p.F718C	ENST00000513104.1	37	c.2153	CCDS47267.2	5	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	20.6|20.6	4.016059|4.016059	0.75161|0.75161	.|.	.|.	ENSG00000069018|ENSG00000069018	ENST00000355180;ENST00000426057;ENST00000513104;ENST00000265193|ENST00000352189;ENST00000378459;ENST00000502753	D;D;D|.	0.82711|.	-1.64;-1.64;-1.64|.	4.99|4.99	4.99|4.99	0.66335|0.66335	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.71837|0.71837	0.3387|0.3387	M|M	0.66939|0.66939	2.045|2.045	0.48236|0.48236	D|D	0.999612|0.999612	P;P;B;P|.	0.50156|.	0.932;0.914;0.209;0.63|.	P;P;B;B|.	0.51193|.	0.662;0.525;0.325;0.438|.	T|T	0.71906|0.71906	-0.4451|-0.4451	10|5	0.87932|.	D|.	0|.	-11.0587|-11.0587	14.8563|14.8563	0.70341|0.70341	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	602;657;663;718|.	Q8IWP7;F5H5U9;Q70T25;Q9HCX4|.	.;.;.;TRPC7_HUMAN|.	C|M	657;602;718;718|601;656;662	ENSP00000347312:F657C;ENSP00000441628:F602C;ENSP00000426070:F718C|.	ENSP00000265193:F718C|.	F|I	-|-	2|3	0|3	TRPC7|TRPC7	135589730|135589730	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	6.047000|6.047000	0.71038|0.71038	2.094000|2.094000	0.63399|0.63399	0.482000|0.482000	0.46254|0.46254	TTT|ATT	TRPC7	-	tigrfam_TRP_channel		0.403	TRPC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRPC7	HGNC	protein_coding	OTTHUMT00000366975.1	A	NM_020389		135561831	-1	no_errors	ENST00000513104	ensembl	human	known	70_37	missense	SNP	1.000	C
TRPM8	79054	genome.wustl.edu	37	2	234835193	234835193	+	Missense_Mutation	SNP	G	G	A			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr2:234835193G>A	ENST00000324695.4	+	2	51	c.11G>A	c.(10-12)cGg>cAg	p.R4Q	TRPM8_ENST00000433712.2_5'UTR	NM_024080.4	NP_076985.4	Q7Z2W7	TRPM8_HUMAN	transient receptor potential cation channel, subfamily M, member 8	4					calcium ion transmembrane transport (GO:0070588)|cellular calcium ion homeostasis (GO:0006874)|detection of temperature stimulus (GO:0016048)|ion transmembrane transport (GO:0034220)|protein homotetramerization (GO:0051289)|protein homotrimerization (GO:0070207)|response to cold (GO:0009409)|thermoception (GO:0050955)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)			breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(2)|lung(27)|prostate(2)|skin(7)|stomach(2)	66		Breast(86;0.00205)|Renal(207;0.00694)|all_lung(227;0.0129)|Lung NSC(271;0.0408)|all_hematologic(139;0.0753)|Acute lymphoblastic leukemia(138;0.224)		Epithelial(121;1.19e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000139)|Lung(119;0.00758)|LUSC - Lung squamous cell carcinoma(224;0.0108)	Menthol(DB00825)	ATGTCCTTTCGGGCAGCCAGG	0.527																																																	0													124.0	115.0	118.0					2																	234835193		2203	4300	6503	SO:0001583	missense	79054			AC005538	CCDS33407.1	2q37	2011-12-14			ENSG00000144481	ENSG00000144481		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	17961	protein-coding gene	gene with protein product		606678				16382100	Standard	NM_024080		Approved		uc002vvh.3	Q7Z2W7	OTTHUMG00000059129	ENST00000324695.4:c.11G>A	2.37:g.234835193G>A	ENSP00000323926:p.Arg4Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	A0AVG2|Q3YFM7|Q6QNH9|Q8TAC3|Q8TDX8|Q9BVK1	Missense_Mutation	SNP	pfam_Ion_trans_dom	p.R4Q	ENST00000324695.4	37	c.11	CCDS33407.1	2	.	.	.	.	.	.	.	.	.	.	G	2.328	-0.354133	0.05173	.	.	ENSG00000144481	ENST00000324695	T	0.58797	0.31	4.6	1.93	0.25924	.	1.343220	0.04737	N	0.422239	T	0.34221	0.0890	N	0.08118	0	0.21984	N	0.999432	B	0.02656	0.0	B	0.01281	0.0	T	0.21759	-1.0236	10	0.17369	T	0.5	-11.798	4.6758	0.12712	0.6574:0.0:0.3426:0.0	.	4	Q7Z2W7	TRPM8_HUMAN	Q	4	ENSP00000323926:R4Q	ENSP00000323926:R4Q	R	+	2	0	TRPM8	234499932	0.929000	0.31497	0.286000	0.24833	0.012000	0.07955	1.326000	0.33735	0.738000	0.32606	-0.367000	0.07326	CGG	TRPM8	-	NULL		0.527	TRPM8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRPM8	HGNC	protein_coding	OTTHUMT00000131005.4	G	NM_024080		234835193	+1	no_errors	ENST00000324695	ensembl	human	known	70_37	missense	SNP	0.268	A
TRPM8	79054	genome.wustl.edu	37	2	234891780	234891780	+	Missense_Mutation	SNP	G	G	C			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr2:234891780G>C	ENST00000324695.4	+	20	2713	c.2673G>C	c.(2671-2673)caG>caC	p.Q891H	TRPM8_ENST00000433712.2_Missense_Mutation_p.Q469H	NM_024080.4	NP_076985.4	Q7Z2W7	TRPM8_HUMAN	transient receptor potential cation channel, subfamily M, member 8	891					calcium ion transmembrane transport (GO:0070588)|cellular calcium ion homeostasis (GO:0006874)|detection of temperature stimulus (GO:0016048)|ion transmembrane transport (GO:0034220)|protein homotetramerization (GO:0051289)|protein homotrimerization (GO:0070207)|response to cold (GO:0009409)|thermoception (GO:0050955)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)			breast(5)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(2)|lung(27)|prostate(2)|skin(7)|stomach(2)	66		Breast(86;0.00205)|Renal(207;0.00694)|all_lung(227;0.0129)|Lung NSC(271;0.0408)|all_hematologic(139;0.0753)|Acute lymphoblastic leukemia(138;0.224)		Epithelial(121;1.19e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000139)|Lung(119;0.00758)|LUSC - Lung squamous cell carcinoma(224;0.0108)	Menthol(DB00825)	TCCTTAGGCAGAATGAGCAGC	0.577																																																	0													206.0	179.0	188.0					2																	234891780		2203	4300	6503	SO:0001583	missense	79054			AC005538	CCDS33407.1	2q37	2011-12-14			ENSG00000144481	ENSG00000144481		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	17961	protein-coding gene	gene with protein product		606678				16382100	Standard	NM_024080		Approved		uc002vvh.3	Q7Z2W7	OTTHUMG00000059129	ENST00000324695.4:c.2673G>C	2.37:g.234891780G>C	ENSP00000323926:p.Gln891His	Somatic		WXS	Illumina HiSeq	Phase_IV	A0AVG2|Q3YFM7|Q6QNH9|Q8TAC3|Q8TDX8|Q9BVK1	Missense_Mutation	SNP	pfam_Ion_trans_dom	p.Q891H	ENST00000324695.4	37	c.2673	CCDS33407.1	2	.	.	.	.	.	.	.	.	.	.	G	13.72	2.321308	0.41096	.	.	ENSG00000144481	ENST00000324695;ENST00000433712;ENST00000456930	T;T;T	0.68765	-0.35;-0.35;-0.35	5.8	-5.93	0.02254	Ion transport (1);	0.196815	0.36101	N	0.002789	T	0.34308	0.0893	N	0.08118	0	0.23515	N	0.997517	B;B	0.14438	0.01;0.001	B;B	0.20577	0.03;0.002	T	0.08889	-1.0700	10	0.35671	T	0.21	-19.5708	4.7738	0.13169	0.545:0.0937:0.2667:0.0946	.	469;891	A0AVG2;Q7Z2W7	.;TRPM8_HUMAN	H	891;469;152	ENSP00000323926:Q891H;ENSP00000404423:Q469H;ENSP00000414198:Q152H	ENSP00000323926:Q891H	Q	+	3	2	TRPM8	234556519	0.900000	0.30661	0.257000	0.24404	0.985000	0.73830	0.035000	0.13797	-1.230000	0.02561	-0.312000	0.09012	CAG	TRPM8	-	pfam_Ion_trans_dom		0.577	TRPM8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRPM8	HGNC	protein_coding	OTTHUMT00000131005.4	G	NM_024080		234891780	+1	no_errors	ENST00000324695	ensembl	human	known	70_37	missense	SNP	0.958	C
TRPV6	55503	genome.wustl.edu	37	7	142573658	142573658	+	Splice_Site	SNP	C	C	T			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr7:142573658C>T	ENST00000359396.3	-	7	1008		c.e7-1		RP11-114L10.2_ENST00000438839.1_RNA	NM_018646.3	NP_061116	Q9H1D0	TRPV6_HUMAN	transient receptor potential cation channel, subfamily V, member 6						calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|regulation of calcium ion-dependent exocytosis (GO:0017158)|transmembrane transport (GO:0055085)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|calmodulin binding (GO:0005516)			breast(1)|endometrium(1)|kidney(2)|large_intestine(11)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	42	Melanoma(164;0.059)					GCTGAAACATCTAAGGGAAAG	0.542																																																	0													151.0	119.0	130.0					7																	142573658		2203	4300	6503	SO:0001630	splice_region_variant	55503			AJ277909	CCDS5874.1	7q34	2013-01-10	2002-01-29	2002-02-01	ENSG00000165125	ENSG00000165125		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	14006	protein-coding gene	gene with protein product		606680	"""epithelial calcium channel 2"""	ECAC2		11097838, 11549322, 16382100, 16717058	Standard	NM_018646		Approved	CaT1	uc003wbx.2	Q9H1D0	OTTHUMG00000157158	ENST00000359396.3:c.763-1G>A	7.37:g.142573658C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A4D2I8|Q8TDL3|Q8WXR8|Q96LC5|Q9H1D1|Q9H296	Splice_Site	SNP	-	e7-1	ENST00000359396.3	37	c.763-1	CCDS5874.1	7	.	.	.	.	.	.	.	.	.	.	C	13.24	2.178582	0.38511	.	.	ENSG00000165125	ENST00000359396;ENST00000311470	.	.	.	4.96	4.08	0.47627	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.3555	0.55174	0.0:0.9187:0.0:0.0813	.	.	.	.	.	-1	.	.	.	-	.	.	TRPV6	142283780	1.000000	0.71417	0.990000	0.47175	0.568000	0.35870	5.727000	0.68523	1.112000	0.41740	-0.136000	0.14681	.	TRPV6	-	-		0.542	TRPV6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRPV6	HGNC	protein_coding	OTTHUMT00000347662.1	C	NM_014274	Intron	142573658	-1	no_errors	ENST00000359396	ensembl	human	known	70_37	splice_site	SNP	1.000	T
TSC22D3	1831	genome.wustl.edu	37	X	106959164	106959164	+	Missense_Mutation	SNP	C	C	T			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chrX:106959164C>T	ENST00000372397.2	-	2	462	c.139G>A	c.(139-141)Gtg>Atg	p.V47M	TSC22D3_ENST00000315660.4_Missense_Mutation_p.V113M|TSC22D3_ENST00000372390.4_De_novo_Start_InFrame|TSC22D3_ENST00000372382.4_Missense_Mutation_p.V23M|TSC22D3_ENST00000372384.2_Missense_Mutation_p.V113M|TSC22D3_ENST00000372383.4_Missense_Mutation_p.V113M|TSC22D3_ENST00000514426.1_Missense_Mutation_p.V45M|TSC22D3_ENST00000506081.1_Missense_Mutation_p.V113M	NM_004089.3	NP_004080.2	Q99576	T22D3_HUMAN	TSC22 domain family, member 3	47	AP1-binding. {ECO:0000250}.				body fluid secretion (GO:0007589)|ion transmembrane transport (GO:0034220)|negative regulation of activation-induced cell death of T cells (GO:0070236)|negative regulation of skeletal muscle tissue development (GO:0048642)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription, DNA-templated (GO:0006355)|response to osmotic stress (GO:0006970)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)|nucleus (GO:0005634)	sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|large_intestine(2)|lung(3)	6						ATGGCCACCACGCTGGCTCCG	0.532																																																	0													169.0	104.0	126.0					X																	106959164		2203	4300	6503	SO:0001583	missense	1831			Z50781	CCDS14530.1, CCDS14531.1, CCDS35365.1	Xq22.3	2008-02-15	2005-03-01	2005-03-03	ENSG00000157514	ENSG00000157514			3051	protein-coding gene	gene with protein product	"""glucocorticoid-induced leucine zipper"""	300506	"""delta sleep inducing peptide, immunoreactor"""	DSIPI		8982256	Standard	XM_005262098		Approved	DIP, GILZ, TSC-22R, hDIP	uc004enh.3	Q99576	OTTHUMG00000022168	ENST00000372397.2:c.139G>A	X.37:g.106959164C>T	ENSP00000361474:p.Val47Met	Somatic		WXS	Illumina HiSeq	Phase_IV	Q5H9S3|Q5JRI9|Q6FIH6|Q8NAI1|Q8WVB9|Q9UBN5|Q9UG13	Missense_Mutation	SNP	pfam_TSC-22_Dip_Bun	p.V113M	ENST00000372397.2	37	c.337	CCDS14531.1	X	.	.	.	.	.	.	.	.	.	.	C	17.73	3.460673	0.63513	.	.	ENSG00000157514	ENST00000372397;ENST00000315660;ENST00000372383;ENST00000372384;ENST00000394928;ENST00000372382;ENST00000506081;ENST00000514426;ENST00000503515;ENST00000514897;ENST00000480691;ENST00000510887;ENST00000502650	.	.	.	4.62	4.62	0.57501	.	0.063700	0.64402	D	0.000009	T	0.73606	0.3608	L	0.55990	1.75	0.80722	D	1	D;D	0.76494	0.993;0.999	P;D	0.68192	0.698;0.956	T	0.76621	-0.2892	9	0.72032	D	0.01	.	14.5028	0.67734	0.0:1.0:0.0:0.0	.	113;47	Q99576-3;Q99576	.;T22D3_HUMAN	M	47;113;113;113;92;23;113;45;47;113;113;113;113	.	ENSP00000314655:V113M	V	-	1	0	TSC22D3	106845820	1.000000	0.71417	0.999000	0.59377	0.122000	0.20287	5.646000	0.67916	2.221000	0.72209	0.600000	0.82982	GTG	TSC22D3	-	NULL		0.532	TSC22D3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TSC22D3	HGNC	protein_coding	OTTHUMT00000057843.2	C	NM_198057		106959164	-1	no_errors	ENST00000315660	ensembl	human	known	70_37	missense	SNP	1.000	T
TSGA13	114960	genome.wustl.edu	37	7	130365827	130365827	+	Missense_Mutation	SNP	A	A	C			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr7:130365827A>C	ENST00000456951.1	-	5	982	c.131T>G	c.(130-132)tTt>tGt	p.F44C	TSGA13_ENST00000356588.3_Missense_Mutation_p.F44C			Q96PP4	TSG13_HUMAN	testis specific, 13	44										endometrium(1)|kidney(3)|large_intestine(3)|lung(6)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	18	Melanoma(18;0.0435)					CTCTAGAACAAATTTTGATTG	0.418																																																	0													141.0	129.0	133.0					7																	130365827		2203	4300	6503	SO:0001583	missense	114960			AK093329	CCDS5824.1	7q32	2008-02-04			ENSG00000213265	ENSG00000213265			12369	protein-coding gene	gene with protein product							Standard	NM_052933		Approved		uc003vqi.3	Q96PP4	OTTHUMG00000154999	ENST00000456951.1:c.131T>G	7.37:g.130365827A>C	ENSP00000406047:p.Phe44Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	B3KSC9	Missense_Mutation	SNP	NULL	p.F44C	ENST00000456951.1	37	c.131	CCDS5824.1	7	.	.	.	.	.	.	.	.	.	.	A	10.02	1.235939	0.22626	.	.	ENSG00000213265	ENST00000456951;ENST00000418126;ENST00000356588;ENST00000443954;ENST00000438346	.	.	.	5.04	5.04	0.67666	.	0.000000	0.44902	D	0.000407	T	0.60483	0.2272	L	0.34521	1.04	0.36385	D	0.862148	D	0.89917	1.0	D	0.91635	0.999	T	0.69266	-0.5190	9	0.72032	D	0.01	-12.0601	11.104	0.48193	1.0:0.0:0.0:0.0	.	44	Q96PP4	TSG13_HUMAN	C	44	.	ENSP00000348996:F44C	F	-	2	0	TSGA13	130016367	1.000000	0.71417	0.970000	0.41538	0.035000	0.12851	4.003000	0.57061	2.113000	0.64589	0.455000	0.32223	TTT	TSGA13	-	NULL		0.418	TSGA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TSGA13	HGNC	protein_coding	OTTHUMT00000337997.1	A	NM_052933		130365827	-1	no_errors	ENST00000356588	ensembl	human	known	70_37	missense	SNP	0.998	C
TSPAN1	10103	genome.wustl.edu	37	1	46650192	46650192	+	Intron	DEL	G	G	-	rs563543415	byFrequency	TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr1:46650192delG	ENST00000372003.1	+	5	728				TSPAN1_ENST00000498443.1_Intron	NM_005727.3	NP_005718.2	O60635	TSN1_HUMAN	tetraspanin 1						cell migration (GO:0016477)|cell proliferation (GO:0008283)|positive regulation of endocytosis (GO:0045807)|protein stabilization (GO:0050821)|thiamine transmembrane transport (GO:0071934)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	thiamine uptake transmembrane transporter activity (GO:0015403)			kidney(1)|large_intestine(1)|lung(5)|ovary(1)	8	Acute lymphoblastic leukemia(166;0.155)	Medulloblastoma(700;0.00498)|all_neural(321;0.0212)				TCACTTTTCCGGGGGGGGGAT	0.587																																																	0																																										SO:0001627	intron_variant	10103			BC013404	CCDS530.1	1p33	2013-02-14			ENSG00000117472	ENSG00000117472		"""Tetraspanins"""	20657	protein-coding gene	gene with protein product		613170				9714763, 10719184	Standard	NM_005727		Approved	TSPAN-1, NET-1	uc001cpd.3	O60635	OTTHUMG00000007602	ENST00000372003.1:c.265-74G>-	1.37:g.46650192delG		Somatic		WXS	Illumina HiSeq	Phase_IV	D3DQ14|O60745|Q5VST0	RNA	DEL	-	NULL	ENST00000372003.1	37	NULL	CCDS530.1	1																																																																																			TSPAN1	-	-		0.587	TSPAN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TSPAN1	HGNC	protein_coding	OTTHUMT00000020135.1	G	NM_005727		46650192	+1	no_errors	ENST00000482143	ensembl	human	known	70_37	rna	DEL	0.000	-
TSPYL5	85453	genome.wustl.edu	37	8	98289174	98289174	+	Missense_Mutation	SNP	C	C	T			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr8:98289174C>T	ENST00000322128.3	-	1	1002	c.899G>A	c.(898-900)cGc>cAc	p.R300H		NM_033512.2	NP_277047.2	Q86VY4	TSYL5_HUMAN	TSPY-like 5	300					cellular response to gamma radiation (GO:0071480)|nucleosome assembly (GO:0006334)|positive regulation of cell proliferation (GO:0008284)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein ubiquitination (GO:0031398)|regulation of growth (GO:0040008)	nucleus (GO:0005634)				cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(6)|lung(3)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	20	Breast(36;2.56e-06)					ATACGGGTTGCGATCGAAGTA	0.488																																																	0													83.0	82.0	82.0					8																	98289174		2203	4300	6503	SO:0001583	missense	85453			AB051537	CCDS34927.1	8q22.1	2011-05-24			ENSG00000180543	ENSG00000180543			29367	protein-coding gene	gene with protein product		614721				11214970	Standard	NM_033512		Approved	KIAA1750	uc003yhy.3	Q86VY4	OTTHUMG00000164857	ENST00000322128.3:c.899G>A	8.37:g.98289174C>T	ENSP00000322802:p.Arg300His	Somatic		WXS	Illumina HiSeq	Phase_IV	B3KRF0|Q9C0B3	Missense_Mutation	SNP	pfam_NAP_family	p.R300H	ENST00000322128.3	37	c.899	CCDS34927.1	8	.	.	.	.	.	.	.	.	.	.	C	16.00	2.997316	0.54147	.	.	ENSG00000180543	ENST00000322128	T	0.29397	1.57	4.4	2.54	0.30619	.	0.684094	0.12112	N	0.498428	T	0.46425	0.1392	L	0.54323	1.7	0.36563	D	0.872542	D	0.67145	0.996	D	0.63488	0.915	T	0.51616	-0.8683	10	0.56958	D	0.05	-1.0506	10.8296	0.46652	0.0:0.6279:0.372:0.0	.	300	Q86VY4	TSYL5_HUMAN	H	300	ENSP00000322802:R300H	ENSP00000322802:R300H	R	-	2	0	TSPYL5	98358350	0.001000	0.12720	0.637000	0.29366	0.705000	0.40729	-0.205000	0.09411	0.755000	0.32990	0.563000	0.77884	CGC	TSPYL5	-	pfam_NAP_family		0.488	TSPYL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TSPYL5	HGNC	protein_coding	OTTHUMT00000380611.1	C	NM_033512		98289174	-1	no_errors	ENST00000322128	ensembl	human	known	70_37	missense	SNP	0.764	T
TTBK1	84630	genome.wustl.edu	37	6	43230635	43230635	+	Silent	SNP	C	C	T			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr6:43230635C>T	ENST00000259750.4	+	13	1616	c.1533C>T	c.(1531-1533)cgC>cgT	p.R511R	TTBK1_ENST00000304139.5_Silent_p.R460R	NM_032538.1	NP_115927.1	Q5TCY1	TTBK1_HUMAN	tau tubulin kinase 1	511					substantia nigra development (GO:0021762)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(10)|liver(1)|lung(21)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	53			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0125)|OV - Ovarian serous cystadenocarcinoma(102;0.0399)			CCAGTGGCCGCATGGACGTGT	0.657																																																	0													56.0	45.0	49.0					6																	43230635		2203	4300	6503	SO:0001819	synonymous_variant	84630			AB058758	CCDS34455.1	6p21.1	2008-02-05			ENSG00000146216	ENSG00000146216			19140	protein-coding gene	gene with protein product						11347906	Standard	XM_006715229		Approved	KIAA1855	uc003ouq.1	Q5TCY1	OTTHUMG00000014725	ENST00000259750.4:c.1533C>T	6.37:g.43230635C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A2A2U5|Q2L6C6|Q6ZNH0|Q8N444|Q96JH2	Silent	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.R511	ENST00000259750.4	37	c.1533	CCDS34455.1	6																																																																																			TTBK1	-	NULL		0.657	TTBK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TTBK1	HGNC	protein_coding	OTTHUMT00000040584.3	C			43230635	+1	no_errors	ENST00000259750	ensembl	human	known	70_37	silent	SNP	1.000	T
TTC19	54902	genome.wustl.edu	37	17	15903112	15903112	+	5'UTR	DEL	G	G	-			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr17:15903112delG	ENST00000261647.5	+	0	419				ZSWIM7_ENST00000399277.1_5'Flank|ZSWIM7_ENST00000472495.1_5'Flank|ZSWIM7_ENST00000486655.1_5'Flank|TTC19_ENST00000486880.2_Frame_Shift_Del_p.G106fs|ZSWIM7_ENST00000399280.2_5'Flank	NM_001271420.1|NM_017775.3	NP_001258349.1|NP_060245.3	Q6DKK2	TTC19_HUMAN	tetratricopeptide repeat domain 19						cytokinesis (GO:0000910)|mitochondrial respiratory chain complex III assembly (GO:0034551)	centrosome (GO:0005813)|midbody (GO:0030496)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)				central_nervous_system(1)|lung(2)|skin(1)|stomach(1)	5				UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)		GCGCGTGGTCGGGGGCCAGGA	0.741																																																	0													3.0	4.0	4.0					17																	15903112		1804	3653	5457	SO:0001623	5_prime_UTR_variant	54902			AK094819	CCDS11174.1, CCDS11174.2	17p11.2	2013-01-11			ENSG00000011295	ENSG00000011295		"""Tetratricopeptide (TTC) repeat domain containing"""	26006	protein-coding gene	gene with protein product		613814					Standard	NM_017775		Approved	FLJ20343, MGC19520	uc002gph.3	Q6DKK2	OTTHUMG00000059306	ENST00000261647.5:c.-51G>-	17.37:g.15903112delG		Somatic		WXS	Illumina HiSeq	Phase_IV	A8MZ52|B3KP62|B4DN65|Q2M248|Q7L3U8|Q9H6G3|Q9NXB2	Frame_Shift_Del	DEL	smart_TPR_repeat,pfscan_TPR-contain_dom	p.G106fs	ENST00000261647.5	37	c.313	CCDS11174.2	17																																																																																			TTC19	-	NULL		0.741	TTC19-001	NOVEL	upstream_ATG|basic|appris_candidate|CCDS	protein_coding	TTC19	HGNC	protein_coding	OTTHUMT00000131725.6	G	NM_017775		15903112	+1	no_errors	ENST00000261647	ensembl	human	novel	70_37	frame_shift_del	DEL	0.876	-
TTC21B	79809	genome.wustl.edu	37	2	166799846	166799846	+	Silent	SNP	G	G	A			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr2:166799846G>A	ENST00000243344.7	-	5	572	c.435C>T	c.(433-435)caC>caT	p.H145H	AC010127.5_ENST00000440322.1_RNA|AC010127.5_ENST00000443032.1_RNA	NM_024753.4	NP_079029.3	Q7Z4L5	TT21B_HUMAN	tetratricopeptide repeat domain 21B	145					forebrain dorsal/ventral pattern formation (GO:0021798)|intraciliary retrograde transport (GO:0035721)|intraciliary transport involved in cilium morphogenesis (GO:0035735)|protein localization to cilium (GO:0061512)|regulation of smoothened signaling pathway (GO:0008589)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|smoothened signaling pathway (GO:0007224)|ventricular system development (GO:0021591)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|intraciliary transport particle A (GO:0030991)|nuclear chromatin (GO:0000790)				breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(9)|lung(28)|ovary(2)|pancreas(2)|skin(2)|urinary_tract(1)	58						CTTTCAAAACGTGTCCCTGTA	0.313																																																	0													71.0	64.0	67.0					2																	166799846		2203	4300	6503	SO:0001819	synonymous_variant	79809			AB082523	CCDS33315.1	2q24.3	2014-09-04			ENSG00000123607	ENSG00000123607		"""Tetratricopeptide (TTC) repeat domain containing"", ""Intraflagellar transport homologs"""	25660	protein-coding gene	gene with protein product		612014				12056414, 21258341	Standard	NM_024753		Approved	FLJ11457, JBTS11, NPHP12, IFT139, THM1	uc002udk.3	Q7Z4L5	OTTHUMG00000154083	ENST00000243344.7:c.435C>T	2.37:g.166799846G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	A8MUZ3|Q3LIE4|Q53T84|Q6P4A1|Q6PIF5|Q8NCN3|Q96MA4|Q9HAK8	Silent	SNP	smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.H145	ENST00000243344.7	37	c.435	CCDS33315.1	2																																																																																			TTC21B	-	NULL		0.313	TTC21B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TTC21B	HGNC	protein_coding	OTTHUMT00000333770.1	G	NM_024753		166799846	-1	no_errors	ENST00000243344	ensembl	human	known	70_37	silent	SNP	0.000	A
TTC30A	92104	genome.wustl.edu	37	2	178482897	178482897	+	Missense_Mutation	SNP	G	G	C			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr2:178482897G>C	ENST00000355689.5	-	1	797	c.533C>G	c.(532-534)tCt>tGt	p.S178C	AC073834.3_ENST00000357045.4_RNA	NM_152275.3	NP_689488.3	Q86WT1	TT30A_HUMAN	tetratricopeptide repeat domain 30A	178					cilium assembly (GO:0042384)|intraciliary transport (GO:0042073)	cilium (GO:0005929)|intraciliary transport particle B (GO:0030992)				autonomic_ganglia(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	30			OV - Ovarian serous cystadenocarcinoma(117;0.000423)|Epithelial(96;0.00373)|all cancers(119;0.0169)			CAGTGTGGCAGAAAACTTGGA	0.537																																																	0													103.0	106.0	105.0					2																	178482897		2203	4300	6503	SO:0001583	missense	92104			AK024008	CCDS2276.1	2q31.2	2013-01-11			ENSG00000197557	ENSG00000197557		"""Tetratricopeptide (TTC) repeat domain containing"""	25853	protein-coding gene	gene with protein product						12477932	Standard	NM_152275		Approved	FLJ13946	uc002ulo.3	Q86WT1	OTTHUMG00000132528	ENST00000355689.5:c.533C>G	2.37:g.178482897G>C	ENSP00000347915:p.Ser178Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K8N0|Q8IVP2	Missense_Mutation	SNP	smart_TPR_repeat,pfscan_TPR-contain_dom	p.S178C	ENST00000355689.5	37	c.533	CCDS2276.1	2	.	.	.	.	.	.	.	.	.	.	G	4.606	0.112683	0.08831	.	.	ENSG00000197557	ENST00000355689	T	0.61040	0.14	5.51	-1.75	0.08031	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.975741	0.08424	N	0.947950	T	0.52597	0.1744	L	0.34521	1.04	0.09310	N	1	B	0.29301	0.241	B	0.43478	0.421	T	0.57780	-0.7752	10	0.37606	T	0.19	.	8.6122	0.33808	0.2684:0.1186:0.613:0.0	.	178	Q86WT1	TT30A_HUMAN	C	178	ENSP00000347915:S178C	ENSP00000347915:S178C	S	-	2	0	TTC30A	178191143	0.004000	0.15560	0.390000	0.26220	0.261000	0.26267	0.114000	0.15520	-0.142000	0.11354	-0.371000	0.07208	TCT	TTC30A	-	smart_TPR_repeat,pfscan_TPR-contain_dom		0.537	TTC30A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TTC30A	HGNC	protein_coding	OTTHUMT00000255728.2	G	NM_152275		178482897	-1	no_errors	ENST00000355689	ensembl	human	known	70_37	missense	SNP	0.030	C
CFAP46	54777	genome.wustl.edu	37	10	134754547	134754547	+	Silent	SNP	G	G	A			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr10:134754547G>A	ENST00000368586.5	-	4	424	c.324C>T	c.(322-324)tgC>tgT	p.C108C	TTC40_ENST00000368582.2_Silent_p.C108C|RP13-137A17.4_ENST00000443633.1_lincRNA|TTC40_ENST00000368585.3_Silent_p.C108C	NM_001200049.2	NP_001186978.2														breast(1)|endometrium(5)|lung(19)|urinary_tract(3)	28						ACTCAGTCACGCAATTTTCAA	0.483											OREG0020643	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													154.0	143.0	147.0					10																	134754547		2203	4300	6503	SO:0001819	synonymous_variant	54777																														ENST00000368586.5:c.324C>T	10.37:g.134754547G>A		Somatic	1613	WXS	Illumina HiSeq	Phase_IV		Silent	SNP	NULL	p.C108	ENST00000368586.5	37	c.324	CCDS58101.1	10																																																																																			TTC40	-	NULL		0.483	TTC40-001	PUTATIVE	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	TTC40	HGNC	protein_coding	OTTHUMT00000051095.3	G			134754547	-1	no_errors	ENST00000368582	ensembl	human	known	70_37	silent	SNP	0.016	A
TTLL5	23093	genome.wustl.edu	37	14	76219283	76219283	+	Missense_Mutation	SNP	G	G	A			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr14:76219283G>A	ENST00000298832.9	+	18	1740	c.1535G>A	c.(1534-1536)cGc>cAc	p.R512H	TTLL5_ENST00000557636.1_Missense_Mutation_p.R526H|TTLL5_ENST00000555422.1_3'UTR|TTLL5_ENST00000554510.1_Missense_Mutation_p.R8H|TTLL5_ENST00000556893.1_Missense_Mutation_p.R50H	NM_015072.4	NP_055887.3	Q6EMB2	TTLL5_HUMAN	tubulin tyrosine ligase-like family, member 5	512					fertilization (GO:0009566)|protein polyglutamylation (GO:0018095)|sperm axoneme assembly (GO:0007288)|sperm motility (GO:0030317)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cilium (GO:0005929)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)			NS(2)|breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(3)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(2)	50				BRCA - Breast invasive adenocarcinoma(234;0.029)		CTGGCAACACGCCTCTTCCAG	0.373																																																	0													111.0	109.0	110.0					14																	76219283		2203	4300	6503	SO:0001583	missense	23093			AF107885	CCDS32124.1	14q24.3	2014-09-09	2005-07-29	2005-07-29	ENSG00000119685	ENSG00000119685		"""Tubulin tyrosine ligase-like family"""	19963	protein-coding gene	gene with protein product		612268	"""KIAA0998"""	KIAA0998		15890843	Standard	NM_015072		Approved		uc001xrx.3	Q6EMB2	OTTHUMG00000171611	ENST00000298832.9:c.1535G>A	14.37:g.76219283G>A	ENSP00000298832:p.Arg512His	Somatic		WXS	Illumina HiSeq	Phase_IV	B9EGH8|B9EGH9|Q9BUB0|Q9H0G4|Q9H7W2|Q9P1V5|Q9UPZ4	Missense_Mutation	SNP	pfam_Tub_tyr_ligase	p.R512H	ENST00000298832.9	37	c.1535	CCDS32124.1	14	.	.	.	.	.	.	.	.	.	.	G	20.7	4.035589	0.75617	.	.	ENSG00000119685	ENST00000418433;ENST00000557636;ENST00000298832;ENST00000393826;ENST00000556893;ENST00000554510	T;T;T;T	0.37235	3.69;3.74;1.42;1.21	5.9	5.9	0.94986	.	1.999930	0.02981	N	0.145645	T	0.37404	0.1002	L	0.39020	1.185	0.38952	D	0.958362	B;P;B	0.49559	0.111;0.925;0.132	B;B;B	0.38327	0.05;0.271;0.018	T	0.47315	-0.9127	10	0.34782	T	0.22	.	18.0857	0.89456	0.0:0.0:1.0:0.0	.	526;50;512	G3V2J9;Q6EMB2-2;Q6EMB2	.;.;TTLL5_HUMAN	H	199;526;512;50;50;8	ENSP00000450713:R526H;ENSP00000298832:R512H;ENSP00000452524:R50H;ENSP00000451946:R8H	ENSP00000298832:R512H	R	+	2	0	TTLL5	75289036	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.209000	0.51122	2.794000	0.96219	0.644000	0.83932	CGC	TTLL5	-	NULL		0.373	TTLL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TTLL5	HGNC	protein_coding	OTTHUMT00000414453.1	G	NM_015072		76219283	+1	no_errors	ENST00000298832	ensembl	human	known	70_37	missense	SNP	0.999	A
TTN	7273	genome.wustl.edu	37	2	179460337	179460337	+	Silent	SNP	G	G	A			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr2:179460337G>A	ENST00000591111.1	-	245	53045	c.52821C>T	c.(52819-52821)ctC>ctT	p.L17607L	TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000342175.6_Silent_p.L10375L|TTN-AS1_ENST00000589234.1_RNA|TTN_ENST00000589042.1_Silent_p.L19248L|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000359218.5_Silent_p.L10308L|TTN_ENST00000342992.6_Silent_p.L16680L|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000460472.2_Silent_p.L10183L|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000590932.1_RNA			Q8WZ42	TITIN_HUMAN	titin	17607	Fibronectin type-III 27. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTCCTTGAATGAGACCCTGGA	0.443																																																	0													57.0	53.0	54.0					2																	179460337		1871	4120	5991	SO:0001819	synonymous_variant	7273			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.52821C>T	2.37:g.179460337G>A		Somatic		WXS	Illumina HiSeq	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	Silent	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.L16680	ENST00000591111.1	37	c.50040		2																																																																																			TTN	-	pfam_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_Fibronectin_type3,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.443	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	G	NM_133378		179460337	-1	no_errors	ENST00000342992	ensembl	human	known	70_37	silent	SNP	0.996	A
TTN	7273	genome.wustl.edu	37	2	179471944	179471944	+	Missense_Mutation	SNP	T	T	G			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr2:179471944T>G	ENST00000591111.1	-	228	48686	c.48462A>C	c.(48460-48462)gaA>gaC	p.E16154D	TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.E8922D|TTN-AS1_ENST00000589234.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.E17795D|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E8855D|TTN_ENST00000342992.6_Missense_Mutation_p.E15227D|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.E8730D|TTN-AS1_ENST00000419746.1_RNA			Q8WZ42	TITIN_HUMAN	titin	16154	Fibronectin type-III 17. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AGCCTGTTATTTCACTTCCTC	0.398																																																	0													179.0	168.0	171.0					2																	179471944		1872	4115	5987	SO:0001583	missense	7273			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.48462A>C	2.37:g.179471944T>G	ENSP00000465570:p.Glu16154Asp	Somatic		WXS	Illumina HiSeq	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.E15227D	ENST00000591111.1	37	c.45681		2	.	.	.	.	.	.	.	.	.	.	T	9.111	1.006564	0.19199	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.58210	0.35;0.35;0.35;0.35	5.99	-5.22	0.02806	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.24353	0.0590	N	0.05554	-0.025	0.19575	N	0.999966	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.06405	0.002;0.002;0.002;0.002	T	0.14337	-1.0476	9	0.87932	D	0	.	2.2015	0.03924	0.3394:0.1067:0.3486:0.2053	.	8730;8855;8922;16154	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	D	15227;8730;8922;8855;8730	ENSP00000343764:E15227D;ENSP00000434586:E8730D;ENSP00000340554:E8922D;ENSP00000352154:E8855D	ENSP00000340554:E8922D	E	-	3	2	TTN	179180189	0.172000	0.23043	0.849000	0.33467	0.978000	0.69477	-0.408000	0.07169	-1.185000	0.02716	-0.313000	0.08912	GAA	TTN	-	pfam_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_Fibronectin_type3,superfamily_RNaseH-like_dom,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.398	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	T	NM_133378		179471944	-1	no_errors	ENST00000342992	ensembl	human	known	70_37	missense	SNP	0.149	G
TTN	7273	genome.wustl.edu	37	2	179666938	179666938	+	Missense_Mutation	SNP	G	G	C			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr2:179666938G>C	ENST00000591111.1	-	3	446	c.222C>G	c.(220-222)aaC>aaG	p.N74K	TTN_ENST00000342175.6_Missense_Mutation_p.N74K|TTN_ENST00000589042.1_Missense_Mutation_p.N74K|TTN_ENST00000359218.5_Missense_Mutation_p.N74K|TTN_ENST00000342992.6_Missense_Mutation_p.N74K|TTN_ENST00000460472.2_Missense_Mutation_p.N74K|TTN_ENST00000360870.5_Missense_Mutation_p.N74K			Q8WZ42	TITIN_HUMAN	titin	32686	Ig-like 1.				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)			ATCGTCCACTGTTGGCTTTAG	0.562																																																	0													163.0	146.0	152.0					2																	179666938		2203	4300	6503	SO:0001583	missense	7273			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.222C>G	2.37:g.179666938G>C	ENSP00000465570:p.Asn74Lys	Somatic		WXS	Illumina HiSeq	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.N74K	ENST00000591111.1	37	c.222		2	.	.	.	.	.	.	.	.	.	.	G	14.63	2.594211	0.46214	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127;ENST00000360870	T;T;T;T;T	0.68025	-0.3;-0.3;-0.3;-0.3;-0.3	5.74	4.87	0.63330	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.69895	0.3162	L	0.28556	0.865	0.35983	D	0.836137	D;P;P;P;D	0.71674	0.963;0.934;0.934;0.934;0.998	P;P;P;P;P	0.59357	0.615;0.579;0.579;0.579;0.856	T	0.78909	-0.2018	9	0.87932	D	0	.	14.9718	0.71241	0.0685:0.0:0.9315:0.0	.	74;74;74;74;74	D3DPF9;E7EQE6;E7ET18;Q8WZ42;Q8WZ42-6	.;.;.;TITIN_HUMAN;.	K	74	ENSP00000343764:N74K;ENSP00000434586:N74K;ENSP00000340554:N74K;ENSP00000352154:N74K;ENSP00000354117:N74K	ENSP00000340554:N74K	N	-	3	2	TTN	179375183	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.650000	0.67944	1.433000	0.47394	-0.137000	0.14449	AAC	TTN	-	pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like		0.562	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	G	NM_133378		179666938	-1	no_errors	ENST00000342992	ensembl	human	known	70_37	missense	SNP	1.000	C
TUBB4A	10382	genome.wustl.edu	37	19	6501390	6501390	+	Missense_Mutation	SNP	C	C	T			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr19:6501390C>T	ENST00000264071.2	-	3	556	c.185G>A	c.(184-186)aGa>aAa	p.R62K	TUBB4A_ENST00000598006.1_Missense_Mutation_p.E48K|TUBB4A_ENST00000601152.1_Missense_Mutation_p.E37K|TUBB4A_ENST00000540257.1_Missense_Mutation_p.R62K|TUBB4A_ENST00000596926.1_Missense_Mutation_p.R62K			P04350	TBB4A_HUMAN	tubulin, beta 4A class IVa	62					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based process (GO:0007017)|mitotic cell cycle (GO:0000278)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cilium (GO:0005929)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|internode region of axon (GO:0033269)|microtubule (GO:0005874)|myelin sheath (GO:0043209)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)										CAGCACCGCTCTGGGGACATA	0.607																																																	0													46.0	45.0	45.0					19																	6501390		2203	4300	6503	SO:0001583	missense	10382			AK075307	CCDS12168.1	19p13.3	2014-02-05	2011-10-11	2011-10-10	ENSG00000104833	ENSG00000104833		"""Tubulins"""	20774	protein-coding gene	gene with protein product	"""class IVa beta-tubulin"""	602662	"""tubulin, beta 4"", ""tubulin, beta 4 class IVa"", ""dystonia 4, torsion (autosomal dominant)"""	TUBB4, DYT4		6865944, 6462917, 23595291	Standard	NM_001289123		Approved	beta-5	uc002mfg.1	P04350		ENST00000264071.2:c.185G>A	19.37:g.6501390C>T	ENSP00000264071:p.Arg62Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	B3KQP4|Q969E5	Missense_Mutation	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_Alpha_tubulin,prints_Gamma_tubulin,prints_Delta_tubulin	p.R62K	ENST00000264071.2	37	c.185	CCDS12168.1	19	.	.	.	.	.	.	.	.	.	.	C	18.24	3.579696	0.65992	.	.	ENSG00000104833	ENST00000264071;ENST00000540257;ENST00000412858	T;T	0.80824	-1.42;-1.42	3.83	3.83	0.44106	.	0.000000	0.64402	D	0.000008	D	0.93835	0.8028	H	0.99286	4.5	0.44042	D	0.996773	D	0.67145	0.996	D	0.77004	0.989	D	0.96243	0.9177	10	0.87932	D	0	.	14.4849	0.67609	0.0:1.0:0.0:0.0	.	62	P04350	TBB4A_HUMAN	K	62	ENSP00000264071:R62K;ENSP00000443590:R62K	ENSP00000264071:R62K	R	-	2	0	TUBB4	6452390	0.984000	0.35163	0.950000	0.38849	0.709000	0.40893	7.607000	0.82883	1.694000	0.51137	0.313000	0.20887	AGA	TUBB4A	-	pfam_Tubulin_FtsZ_GTPase,pfam_Misato_II_myosin-like,superfamily_Tubulin_FtsZ_GTPase,smart_Tubulin_FtsZ_GTPase,prints_Tubulin		0.607	TUBB4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TUBB4A	HGNC	protein_coding	OTTHUMT00000457841.1	C	NM_006087		6501390	-1	no_errors	ENST00000264071	ensembl	human	known	70_37	missense	SNP	1.000	T
TTYH1	57348	genome.wustl.edu	37	19	54932529	54932529	+	Silent	SNP	C	C	T			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr19:54932529C>T	ENST00000376530.3	+	3	487	c.384C>T	c.(382-384)caC>caT	p.H128H	TTYH1_ENST00000376531.3_Silent_p.H128H|TTYH1_ENST00000301194.4_Silent_p.H128H|TTYH1_ENST00000391739.3_Silent_p.H177H	NM_001201461.1|NM_020659.3	NP_001188390.1|NP_065710.1	Q9H313	TTYH1_HUMAN	tweety family member 1	128					cell-substrate adhesion (GO:0031589)|chloride transport (GO:0006821)|filopodium assembly (GO:0046847)|ion transmembrane transport (GO:0034220)|iron ion transmembrane transport (GO:0034755)|iron ion transport (GO:0006826)|mitotic nuclear division (GO:0007067)|regulation of anion transport (GO:0044070)|single organismal cell-cell adhesion (GO:0016337)|transmembrane transport (GO:0055085)	chloride channel complex (GO:0034707)|filopodium membrane (GO:0031527)|filopodium tip (GO:0032433)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|smooth endoplasmic reticulum membrane (GO:0030868)	calcium ion binding (GO:0005509)|iron ion transmembrane transporter activity (GO:0005381)|volume-sensitive chloride channel activity (GO:0072320)			endometrium(1)|kidney(1)|large_intestine(5)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.0767)		CGCTGCTGCACGCCAACCACA	0.622																																																	0													124.0	101.0	109.0					19																	54932529		2203	4300	6503	SO:0001819	synonymous_variant	57348			AF177909	CCDS12893.1, CCDS33106.1, CCDS56102.1	19q13.4	2013-09-02	2013-09-02		ENSG00000167614	ENSG00000167614			13476	protein-coding gene	gene with protein product		605784	"""tweety (Drosophila) homolog 1"", ""tweety homolog 1 (Drosophila)"""			10950931	Standard	NM_020659		Approved		uc002qfr.3	Q9H313	OTTHUMG00000065544	ENST00000376530.3:c.384C>T	19.37:g.54932529C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B0VJY3|B0VJY4|B0VJY5|B2VAL9|Q5U682|Q68A17|Q6L750|Q6ZTE5|Q8WUU2	Silent	SNP	pfam_Tweety	p.H128	ENST00000376530.3	37	c.384	CCDS12893.1	19																																																																																			TTYH1	-	pfam_Tweety		0.622	TTYH1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	TTYH1	HGNC	protein_coding	OTTHUMT00000140498.1	C			54932529	+1	no_errors	ENST00000376531	ensembl	human	known	70_37	silent	SNP	0.717	T
TUBG1	7283	genome.wustl.edu	37	17	40766958	40766958	+	Missense_Mutation	SNP	G	G	C			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr17:40766958G>C	ENST00000251413.3	+	11	1317	c.1255G>C	c.(1255-1257)Gat>Cat	p.D419H		NM_001070.4	NP_001061.2	P23258	TBG1_HUMAN	tubulin, gamma 1	419					cytoplasmic microtubule organization (GO:0031122)|G2/M transition of mitotic cell cycle (GO:0000086)|meiotic spindle organization (GO:0000212)|microtubule cytoskeleton organization (GO:0000226)|microtubule nucleation (GO:0007020)|mitotic cell cycle (GO:0000278)	apical part of cell (GO:0045177)|cell leading edge (GO:0031252)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|gamma-tubulin complex (GO:0000930)|nonmotile primary cilium (GO:0031513)|pericentriolar material (GO:0000242)|polar microtubule (GO:0005827)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|prostate(1)	12		Breast(137;0.00116)		BRCA - Breast invasive adenocarcinoma(366;0.129)	Vinblastine(DB00570)	GGACAACTTTGATGAGATGGA	0.562																																					Colon(20;114 698 11420 22864)												0													133.0	131.0	132.0					17																	40766958		2203	4300	6503	SO:0001583	missense	7283			BC000619	CCDS11433.1	17q21.31	2010-03-15	2000-01-20		ENSG00000131462	ENSG00000131462		"""Tubulins"""	12417	protein-coding gene	gene with protein product		191135	"""tubulin, gamma polypeptide"""	TUBG		1904010	Standard	NM_001070		Approved	TUBGCP1	uc002ian.3	P23258		ENST00000251413.3:c.1255G>C	17.37:g.40766958G>C	ENSP00000251413:p.Asp419His	Somatic		WXS	Illumina HiSeq	Phase_IV	Q53X79|Q9BW59	Missense_Mutation	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_Gamma_tubulin,prints_Tubulin,prints_Epsilon_tubulin,prints_Delta_tubulin,prints_Beta_tubulin,prints_Alpha_tubulin	p.D419H	ENST00000251413.3	37	c.1255	CCDS11433.1	17	.	.	.	.	.	.	.	.	.	.	G	15.66	2.899624	0.52227	.	.	ENSG00000131462	ENST00000251413	D	0.84873	-1.91	5.02	3.98	0.46160	Tubulin, C-terminal (1);Tubulin/FtsZ, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.87337	0.6152	M	0.89785	3.06	0.58432	D	0.999999	P	0.36330	0.548	B	0.34824	0.19	D	0.90115	0.4195	10	0.66056	D	0.02	-12.6072	14.8514	0.70300	0.0:0.1441:0.8559:0.0	.	419	P23258	TBG1_HUMAN	H	419	ENSP00000251413:D419H	ENSP00000251413:D419H	D	+	1	0	TUBG1	38020484	1.000000	0.71417	0.988000	0.46212	0.984000	0.73092	6.531000	0.73820	2.339000	0.79563	0.563000	0.77884	GAT	TUBG1	-	superfamily_Tub_FtsZ_C		0.562	TUBG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TUBG1	HGNC	protein_coding	OTTHUMT00000450548.1	G	NM_001070		40766958	+1	no_errors	ENST00000251413	ensembl	human	known	70_37	missense	SNP	1.000	C
TULP2	7288	genome.wustl.edu	37	19	49392834	49392834	+	Nonsense_Mutation	SNP	G	G	T			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr19:49392834G>T	ENST00000221399.3	-	7	713	c.569C>A	c.(568-570)tCa>tAa	p.S190*		NM_003323.2	NP_003314.2	O00295	TULP2_HUMAN	tubby like protein 2	190					visual perception (GO:0007601)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)	protein complex binding (GO:0032403)			NS(1)|breast(2)|central_nervous_system(2)|kidney(1)|large_intestine(6)|lung(7)|ovary(1)|skin(2)	22		all_epithelial(76;5.29e-07)|all_lung(116;1.7e-06)|Lung NSC(112;3.55e-06)|all_neural(266;0.0189)|Ovarian(192;0.0261)		OV - Ovarian serous cystadenocarcinoma(262;0.000259)|all cancers(93;0.000435)|Epithelial(262;0.0221)|GBM - Glioblastoma multiforme(486;0.0234)		CATATTGGGTGACTTGTGTGC	0.468																																																	0													202.0	161.0	175.0					19																	49392834		2203	4300	6503	SO:0001587	stop_gained	7288			U82469	CCDS12739.1	19q13.1	2009-08-06			ENSG00000104804	ENSG00000104804			12424	protein-coding gene	gene with protein product	"""cancer/testis antigen 65"""	602309				9096357	Standard	NM_003323		Approved	TUBL2, CT65	uc002pkz.2	O00295	OTTHUMG00000164406	ENST00000221399.3:c.569C>A	19.37:g.49392834G>T	ENSP00000221399:p.Ser190*	Somatic		WXS	Illumina HiSeq	Phase_IV	Q8TC50	Nonsense_Mutation	SNP	pfam_Tubby_C,superfamily_Tubby_C-like,prints_Tubby_C,prints_Tubby_N	p.S190*	ENST00000221399.3	37	c.569	CCDS12739.1	19	.	.	.	.	.	.	.	.	.	.	G	6.068	0.380935	0.11466	.	.	ENSG00000104804	ENST00000221399;ENST00000518572;ENST00000522945;ENST00000520977	.	.	.	3.28	-6.55	0.01854	.	8.198860	0.00166	N	0.000006	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.09084	T	0.74	4.1471	1.3063	0.02089	0.3385:0.098:0.1419:0.4217	.	.	.	.	X	190;144;187;171	.	ENSP00000221399:S190X	S	-	2	0	TULP2	54084646	0.000000	0.05858	0.000000	0.03702	0.014000	0.08584	-3.829000	0.00356	-3.295000	0.00194	-0.745000	0.03516	TCA	TULP2	-	NULL		0.468	TULP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TULP2	HGNC	protein_coding	OTTHUMT00000378633.1	G	NM_003323		49392834	-1	no_errors	ENST00000221399	ensembl	human	known	70_37	nonsense	SNP	0.000	T
TXLNB	167838	genome.wustl.edu	37	6	139609794	139609794	+	Silent	SNP	G	G	T			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr6:139609794G>T	ENST00000358430.3	-	2	475	c.243C>A	c.(241-243)ggC>ggA	p.G81G	RP11-445F6.2_ENST00000441249.1_RNA|RP11-445F6.2_ENST00000440518.1_RNA	NM_153235.3	NP_694967.3	Q8N3L3	TXLNB_HUMAN	taxilin beta	81						cytoplasm (GO:0005737)				breast(2)|cervix(2)|endometrium(3)|kidney(2)|large_intestine(5)|lung(14)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	37				OV - Ovarian serous cystadenocarcinoma(155;0.000185)|GBM - Glioblastoma multiforme(68;0.000235)		CCCTGGCAGAGCCCTCTTTCC	0.537																																																	0													112.0	109.0	110.0					6																	139609794		2203	4300	6503	SO:0001819	synonymous_variant	167838				CCDS34545.1	6q23.3	2008-02-05	2005-07-29	2005-07-29	ENSG00000164440	ENSG00000164440			21617	protein-coding gene	gene with protein product		611438	"""chromosome 6 open reading frame 198"""	C6orf198		15184072	Standard	NM_153235		Approved	DKFZp451A175, MDP77, dJ522B19.2	uc021zfy.1	Q8N3L3	OTTHUMG00000015688	ENST00000358430.3:c.243C>A	6.37:g.139609794G>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q5VTF3|Q76L25|Q86T52|Q8N3S2	Silent	SNP	pfam_Taxilin_fam	p.G81	ENST00000358430.3	37	c.243	CCDS34545.1	6																																																																																			TXLNB	-	NULL		0.537	TXLNB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TXLNB	HGNC	protein_coding	OTTHUMT00000042458.1	G	NM_153235		139609794	-1	no_errors	ENST00000358430	ensembl	human	known	70_37	silent	SNP	0.000	T
TULP4	56995	genome.wustl.edu	37	6	158923775	158923775	+	Missense_Mutation	SNP	C	C	T			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr6:158923775C>T	ENST00000367097.3	+	13	4437	c.3080C>T	c.(3079-3081)cCa>cTa	p.P1027L	TULP4_ENST00000367094.2_Intron	NM_020245.4	NP_064630.2	Q9NRJ4	TULP4_HUMAN	tubby like protein 4	1027					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)|regulation of transcription, DNA-templated (GO:0006355)|response to nutrient (GO:0007584)	cytoplasm (GO:0005737)	sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(7)|kidney(2)|large_intestine(15)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Breast(66;0.000781)|Ovarian(120;0.0308)|Lung SC(201;0.164)|Prostate(117;0.171)		OV - Ovarian serous cystadenocarcinoma(65;1.64e-18)|BRCA - Breast invasive adenocarcinoma(81;2.67e-05)		ACACAGCTCCCAGCGCGGCCC	0.736																																																	0													8.0	10.0	10.0					6																	158923775		2172	4247	6419	SO:0001583	missense	56995				CCDS34561.1, CCDS34562.1	6q25-q26	2013-01-10			ENSG00000130338	ENSG00000130338		"""WD repeat domain containing"""	15530	protein-coding gene	gene with protein product						11595174	Standard	NM_020245		Approved	TUSP, KIAA1397	uc003qrf.3	Q9NRJ4	OTTHUMG00000015910	ENST00000367097.3:c.3080C>T	6.37:g.158923775C>T	ENSP00000356064:p.Pro1027Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	Q5T3M2|Q5T3M3|Q9HD22|Q9P2F0	Missense_Mutation	SNP	pfam_Tubby_C,pfam_SOCS_C,pfam_WD40_repeat,superfamily_Tubby_C-like,superfamily_WD40_repeat_dom,superfamily_Tumour_necrosis_fac-like,smart_WD40_repeat,smart_SOCS_C,pfscan_SOCS_C,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.P1027L	ENST00000367097.3	37	c.3080	CCDS34561.1	6	.	.	.	.	.	.	.	.	.	.	c	8.382	0.837677	0.16891	.	.	ENSG00000130338	ENST00000367097	T	0.60171	0.21	3.95	2.99	0.34606	.	0.262160	0.38837	N	0.001544	T	0.27900	0.0687	L	0.29908	0.895	0.80722	D	1	B	0.17667	0.023	B	0.14023	0.01	T	0.30416	-0.9979	10	0.52906	T	0.07	-13.8929	9.4733	0.38856	0.432:0.568:0.0:0.0	.	1027	Q9NRJ4	TULP4_HUMAN	L	1027	ENSP00000356064:P1027L	ENSP00000356064:P1027L	P	+	2	0	TULP4	158843763	1.000000	0.71417	0.032000	0.17829	0.207000	0.24258	5.055000	0.64282	2.190000	0.69967	0.556000	0.70494	CCA	TULP4	-	NULL		0.736	TULP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TULP4	HGNC	protein_coding	OTTHUMT00000042869.1	C	NM_020245		158923775	+1	no_errors	ENST00000367097	ensembl	human	known	70_37	missense	SNP	0.222	T
TXNDC8	255220	genome.wustl.edu	37	9	113065834	113065834	+	Missense_Mutation	SNP	T	T	G			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr9:113065834T>G	ENST00000374511.3	-	6	399	c.351A>C	c.(349-351)aaA>aaC	p.K117N				Q6A555	TXND8_HUMAN	thioredoxin domain containing 8 (spermatozoa)	117					acrosome assembly (GO:0001675)|cell redox homeostasis (GO:0045454)|glycerol ether metabolic process (GO:0006662)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	acrosomal vesicle (GO:0001669)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|sperm flagellum (GO:0036126)				endometrium(1)|large_intestine(1)|lung(1)|prostate(1)	4						CTTCCAATTTTTTAGCATCGG	0.368																																																	0																																										SO:0001583	missense	255220			BC035743	CCDS35104.1, CCDS69639.1, CCDS75872.1	9q31.3	2007-08-16	2007-08-16	2007-08-16	ENSG00000204193	ENSG00000204193			31454	protein-coding gene	gene with protein product	"""sperm-specific thioredoxin 3"""						Standard	XM_005251879		Approved	bA427L11.2, TRX6, SPTRX-3	uc004bes.3	Q6A555	OTTHUMG00000020481	ENST00000374511.3:c.351A>C	9.37:g.113065834T>G	ENSP00000363635:p.Lys117Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	A1L4I2|A6NDK7|Q5T934	Missense_Mutation	SNP	pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold	p.K117N	ENST00000374511.3	37	c.351		9	.	.	.	.	.	.	.	.	.	.	T	2.081	-0.410768	0.04799	.	.	ENSG00000204193	ENST00000374511	T	0.20738	2.05	4.84	1.11	0.20524	.	0.777662	0.11780	N	0.530279	T	0.16599	0.0399	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.27123	-1.0083	7	0.38643	T	0.18	0.002	4.0209	0.09665	0.0:0.1894:0.1803:0.6303	.	.	.	.	N	117	ENSP00000363635:K117N	ENSP00000363635:K117N	K	-	3	2	TXNDC8	112105655	0.000000	0.05858	0.002000	0.10522	0.015000	0.08874	-0.360000	0.07622	0.080000	0.16959	0.528000	0.53228	AAA	TXNDC8	-	NULL		0.368	TXNDC8-201	KNOWN	basic|appris_candidate_longest	protein_coding	TXNDC8	HGNC	protein_coding		T	NM_001003936		113065834	-1	no_errors	ENST00000374511	ensembl	human	known	70_37	missense	SNP	0.009	G
TXNL1	9352	genome.wustl.edu	37	18	54305579	54305579	+	Missense_Mutation	SNP	C	C	T			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr18:54305579C>T	ENST00000217515.6	-	1	297	c.93G>A	c.(91-93)atG>atA	p.M31I	TXNL1_ENST00000540155.1_5'UTR|TXNL1_ENST00000590954.1_Missense_Mutation_p.M31I	NM_004786.2	NP_004777.1	O43396	TXNL1_HUMAN	thioredoxin-like 1	31	Thioredoxin.				cell redox homeostasis (GO:0045454)|glycerol ether metabolic process (GO:0006662)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|proteasome complex (GO:0000502)	disulfide oxidoreductase activity (GO:0015036)|protein disulfide oxidoreductase activity (GO:0015035)			endometrium(1)|large_intestine(1)|lung(1)|urinary_tract(1)	4				READ - Rectum adenocarcinoma(59;0.193)|Colorectal(16;0.211)		CTCACCCTCTCATGGTGAACT	0.632																																																	0													38.0	32.0	34.0					18																	54305579		2203	4300	6503	SO:0001583	missense	9352			AF003938	CCDS11961.1	18q21.31	2011-01-17	2004-05-06	2004-05-07	ENSG00000091164	ENSG00000091164			12436	protein-coding gene	gene with protein product	"""thioredoxin-like, 32kD"""	603049	"""thioredoxin-like, 32kDa"""	TXNL		9473519, 9668102	Standard	NM_004786		Approved	Txl, TRP32	uc002lgg.3	O43396	OTTHUMG00000132722	ENST00000217515.6:c.93G>A	18.37:g.54305579C>T	ENSP00000217515:p.Met31Ile	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_PITH_dom,pfam_Thioredoxin_domain,superfamily_Galactose-bd-like,superfamily_Thioredoxin-like_fold	p.M31I	ENST00000217515.6	37	c.93	CCDS11961.1	18	.	.	.	.	.	.	.	.	.	.	C	19.50	3.839366	0.71488	.	.	ENSG00000091164	ENST00000217515	T	0.03212	4.01	5.3	5.3	0.74995	Thioredoxin domain (1);Thioredoxin, conserved site (1);Thioredoxin-like fold (2);	0.074346	0.85682	D	0.000000	T	0.04634	0.0126	L	0.34521	1.04	0.80722	D	1	B;B	0.15141	0.005;0.012	B;B	0.15870	0.014;0.003	T	0.36672	-0.9738	10	0.87932	D	0	.	14.4516	0.67389	0.0:1.0:0.0:0.0	.	31;31	B2R960;O43396	.;TXNL1_HUMAN	I	31	ENSP00000217515:M31I	ENSP00000217515:M31I	M	-	3	0	TXNL1	52456577	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	3.984000	0.56923	2.481000	0.83766	0.462000	0.41574	ATG	TXNL1	-	pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold		0.632	TXNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TXNL1	HGNC	protein_coding	OTTHUMT00000256064.2	C			54305579	-1	no_errors	ENST00000217515	ensembl	human	known	70_37	missense	SNP	1.000	T
TYK2	7297	genome.wustl.edu	37	19	10469949	10469949	+	Missense_Mutation	SNP	C	C	T			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr19:10469949C>T	ENST00000525621.1	-	15	2558	c.2077G>A	c.(2077-2079)Gga>Aga	p.G693R	TYK2_ENST00000264818.6_Missense_Mutation_p.G693R|TYK2_ENST00000529370.1_Missense_Mutation_p.G693R|TYK2_ENST00000524462.1_Missense_Mutation_p.G508R	NM_003331.4	NP_003322.3	P29597	TYK2_HUMAN	tyrosine kinase 2	693	Protein kinase 1. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cytokine-mediated signaling pathway (GO:0019221)|intracellular signal transduction (GO:0035556)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein phosphorylation (GO:0006468)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|growth hormone receptor binding (GO:0005131)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)			breast(1)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(11)|kidney(6)|large_intestine(3)|lung(19)|ovary(4)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	64			OV - Ovarian serous cystadenocarcinoma(20;1.77e-09)|Epithelial(33;3.92e-06)|all cancers(31;8.95e-06)			TCCAGGGGTCCGTGCTCCACG	0.627																																																	0													46.0	38.0	41.0					19																	10469949		2203	4299	6502	SO:0001583	missense	7297				CCDS12236.1	19p13.2	2014-09-17			ENSG00000105397	ENSG00000105397	2.7.10.1		12440	protein-coding gene	gene with protein product		176941				2156206	Standard	NM_003331		Approved	JTK1	uc002moc.4	P29597	OTTHUMG00000166373	ENST00000525621.1:c.2077G>A	19.37:g.10469949C>T	ENSP00000431885:p.Gly693Arg	Somatic		WXS	Illumina HiSeq	Phase_IV	Q6QB10|Q96CH0	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_FERM_central,smart_Band_41_domain,smart_SH2,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_non-rcpt_Jak/Tyk2,pfscan_FERM_domain,pfscan_Prot_kinase_cat_dom,prints_Tyr_kinase_non-rcpt_Jak/Tyk2,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_Tyr_kinase_non-rcpt_TYK2_N	p.G693R	ENST00000525621.1	37	c.2077	CCDS12236.1	19	.	.	.	.	.	.	.	.	.	.	C	17.61	3.433536	0.62955	.	.	ENSG00000105397	ENST00000524462;ENST00000525621;ENST00000264818;ENST00000543792;ENST00000529370	D;D;D;D	0.89939	-2.59;-2.59;-2.59;-2.59	5.0	5.0	0.66597	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.52532	D	0.000069	D	0.94971	0.8373	M	0.86740	2.835	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.991;0.998	D	0.95541	0.8612	10	0.87932	D	0	-30.8858	15.8252	0.78698	0.0:1.0:0.0:0.0	.	693;693	E9PPF2;P29597	.;TYK2_HUMAN	R	508;693;693;440;693	ENSP00000433203:G508R;ENSP00000431885:G693R;ENSP00000264818:G693R;ENSP00000432728:G693R	ENSP00000264818:G693R	G	-	1	0	TYK2	10330949	1.000000	0.71417	0.618000	0.29105	0.114000	0.19823	7.249000	0.78278	2.609000	0.88269	0.655000	0.94253	GGA	TYK2	-	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Tyr_kinase_non-rcpt_Jak/Tyk2,pfscan_Prot_kinase_cat_dom		0.627	TYK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TYK2	HGNC	protein_coding	OTTHUMT00000389443.1	C			10469949	-1	no_errors	ENST00000264818	ensembl	human	known	70_37	missense	SNP	0.991	T
UBE2D1	7321	genome.wustl.edu	37	10	60127703	60127703	+	Missense_Mutation	SNP	C	C	G			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr10:60127703C>G	ENST00000373910.4	+	6	552	c.325C>G	c.(325-327)Cta>Gta	p.L109V		NM_001204880.1|NM_003338.4	NP_001191809.1|NP_003329.1	P51668	UB2D1_HUMAN	ubiquitin-conjugating enzyme E2D 1	109					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|BMP signaling pathway (GO:0030509)|cellular response to hypoxia (GO:0071456)|gene expression (GO:0010467)|innate immune response (GO:0045087)|mitotic cell cycle (GO:0000278)|mitotic spindle assembly checkpoint (GO:0007094)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K48-linked ubiquitination (GO:0070936)|protein polyubiquitination (GO:0000209)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|protein complex (GO:0043234)|ubiquitin ligase complex (GO:0000151)	acid-amino acid ligase activity (GO:0016881)|ATP binding (GO:0005524)|ubiquitin-protein transferase activity (GO:0004842)			central_nervous_system(1)|kidney(3)|large_intestine(1)|lung(2)|prostate(1)|skin(2)	10						CATATGTTCTCTACTTTGTGA	0.294																																																	0													214.0	190.0	198.0					10																	60127703		2203	4299	6502	SO:0001583	missense	7321			BC015997	CCDS7252.1, CCDS73139.1	10q21.1	2011-05-19	2011-05-19		ENSG00000072401	ENSG00000072401		"""Ubiquitin-conjugating enzymes E2"""	12474	protein-coding gene	gene with protein product		602961	"""stimulator of Fe transport"", ""ubiquitin-conjugating enzyme E2D 1 (UBC4/5 homolog, yeast)"""	SFT		10072594, 8530467	Standard	NM_003338		Approved	UbcH5A, UBCH5, UBC4/5, E2(17)KB1	uc001jke.2	P51668	OTTHUMG00000018269	ENST00000373910.4:c.325C>G	10.37:g.60127703C>G	ENSP00000363019:p.Leu109Val	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NLF6|A8K786	Missense_Mutation	SNP	pfam_UBQ-conjugat_E2,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2	p.L109V	ENST00000373910.4	37	c.325	CCDS7252.1	10	.	.	.	.	.	.	.	.	.	.	C	17.19	3.325332	0.60743	.	.	ENSG00000072401	ENST00000373910	T	0.58940	0.3	5.72	4.82	0.62117	Ubiquitin-conjugating enzyme, E2 (2);Ubiquitin-conjugating enzyme/RWD-like (2);	0.000000	0.85682	D	0.000000	T	0.74496	0.3724	H	0.96111	3.77	0.54753	D	0.999988	P	0.51933	0.949	P	0.50049	0.629	T	0.80679	-0.1275	10	0.87932	D	0	.	8.9712	0.35908	0.0:0.8325:0.0:0.1675	.	109	P51668	UB2D1_HUMAN	V	109	ENSP00000363019:L109V	ENSP00000363019:L109V	L	+	1	2	UBE2D1	59797709	0.996000	0.38824	1.000000	0.80357	0.998000	0.95712	2.384000	0.44362	1.419000	0.47118	0.561000	0.74099	CTA	UBE2D1	-	pfam_UBQ-conjugat_E2,superfamily_UBQ-conjugating_enzyme/RWD,pfscan_UBQ-conjugat_E2		0.294	UBE2D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UBE2D1	HGNC	protein_coding	OTTHUMT00000048143.2	C	NM_003338		60127703	+1	no_errors	ENST00000373910	ensembl	human	known	70_37	missense	SNP	0.994	G
UBQLN1	29979	genome.wustl.edu	37	9	86297962	86297962	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr9:86297962G>A	ENST00000376395.4	-	3	875	c.352C>T	c.(352-354)Cag>Tag	p.Q118*	UBQLN1_ENST00000257468.7_Nonsense_Mutation_p.Q118*	NM_013438.4|NM_053067.2	NP_038466.2|NP_444295.1	Q9UMX0	UBQL1_HUMAN	ubiquilin 1	118					cellular response to hypoxia (GO:0071456)|regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902175)|regulation of protein ubiquitination (GO:0031396)|response to endoplasmic reticulum stress (GO:0034976)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|proteasome complex (GO:0000502)|protein complex (GO:0043234)	kinase binding (GO:0019900)			breast(4)|endometrium(2)|kidney(4)|large_intestine(6)|lung(10)|prostate(1)	27						TTTGTTTGCTGAGCTGAATGA	0.403																																					Melanoma(186;1284 2073 12755 14558 18426)												0													160.0	146.0	151.0					9																	86297962		2203	4300	6503	SO:0001587	stop_gained	29979			AF176069	CCDS6663.1, CCDS6664.1	9q22	2013-02-12			ENSG00000135018	ENSG00000135018		"""Ubiquilin family"""	12508	protein-coding gene	gene with protein product		605046				9303440, 10807547	Standard	NM_013438		Approved	DSK2, PLIC-1, XDRP1, DA41	uc004amv.3	Q9UMX0	OTTHUMG00000020104	ENST00000376395.4:c.352C>T	9.37:g.86297962G>A	ENSP00000365576:p.Gln118*	Somatic		WXS	Illumina HiSeq	Phase_IV	Q5T6J5|Q5T6J9|Q8IXS9|Q8N2Q3|Q9H0T8|Q9H3R4|Q9HAZ5	Nonsense_Mutation	SNP	pfam_Ubiquitin,pfam_SUMO,pfam_UBA/transl_elong_EF1B_N,superfamily_UBA-like,superfamily_ARM-type_fold,superfamily_XPC-bd,smart_Ubiquitin,smart_STI1_HS-bd,smart_UBA/transl_elong_EF1B_N_euk,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Ubiquitin_supergroup	p.Q118*	ENST00000376395.4	37	c.352	CCDS6663.1	9	.	.	.	.	.	.	.	.	.	.	G	41	8.839694	0.98974	.	.	ENSG00000135018	ENST00000376395;ENST00000257468	.	.	.	5.11	5.11	0.69529	.	0.073791	0.56097	D	0.000026	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.13108	T	0.6	.	12.2945	0.54838	0.0779:0.0:0.9221:0.0	.	.	.	.	X	118	.	ENSP00000257468:Q118X	Q	-	1	0	UBQLN1	85487782	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.738000	0.62073	2.529000	0.85273	0.655000	0.94253	CAG	UBQLN1	-	NULL		0.403	UBQLN1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	UBQLN1	HGNC	protein_coding	OTTHUMT00000052834.1	G	NM_013438		86297962	-1	no_errors	ENST00000376395	ensembl	human	known	70_37	nonsense	SNP	1.000	A
UCMA	221044	genome.wustl.edu	37	10	13275542	13275542	+	Silent	SNP	G	G	C			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr10:13275542G>C	ENST00000378681.3	-	3	288	c.216C>G	c.(214-216)gtC>gtG	p.V72V	UCMA_ENST00000463405.2_Silent_p.V50V	NM_145314.1	NP_660357.2	Q8WVF2	UCMA_HUMAN	upper zone of growth plate and cartilage matrix associated	72					negative regulation of osteoblast differentiation (GO:0045668)	aggresome (GO:0016235)|extracellular space (GO:0005615)|perinuclear region of cytoplasm (GO:0048471)|proteinaceous extracellular matrix (GO:0005578)				breast(2)|endometrium(1)|large_intestine(2)|lung(3)|upper_aerodigestive_tract(1)	9						CCTTACCATTGACCTCATCTC	0.582																																																	0													76.0	78.0	77.0					10																	13275542		2203	4300	6503	SO:0001819	synonymous_variant	221044			BC018068	CCDS31147.1	10p13	2009-03-25	2009-03-25	2009-03-25	ENSG00000165623	ENSG00000165623			25205	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 49"""	C10orf49		12477932	Standard	NM_145314		Approved		uc001imd.3	Q8WVF2	OTTHUMG00000017692	ENST00000378681.3:c.216C>G	10.37:g.13275542G>C		Somatic		WXS	Illumina HiSeq	Phase_IV		Silent	SNP	NULL	p.V72	ENST00000378681.3	37	c.216	CCDS31147.1	10																																																																																			UCMA	-	NULL		0.582	UCMA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UCMA	HGNC	protein_coding	OTTHUMT00000046843.2	G	NM_145314		13275542	-1	no_errors	ENST00000378681	ensembl	human	known	70_37	silent	SNP	0.927	C
UHRF2	115426	genome.wustl.edu	37	9	6497316	6497316	+	Missense_Mutation	SNP	A	A	G			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr9:6497316A>G	ENST00000276893.5	+	11	1891	c.1723A>G	c.(1723-1725)Aaa>Gaa	p.K575E	UHRF2_ENST00000485617.2_3'UTR	NM_152896.2	NP_690856.1	Q96PU4	UHRF2_HUMAN	ubiquitin-like with PHD and ring finger domains 2, E3 ubiquitin protein ligase	575	Methyl-CpG binding and interaction with HDAC1.|YDG. {ECO:0000255|PROSITE- ProRule:PRU00358}.				cell cycle (GO:0007049)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|positive regulation of cell cycle arrest (GO:0071158)|protein autoubiquitination (GO:0051865)|protein ubiquitination (GO:0016567)|regulation of cell cycle (GO:0051726)|ubiquitin-dependent protein catabolic process (GO:0006511)	nuclear heterochromatin (GO:0005720)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone binding (GO:0042393)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			cervix(2)|endometrium(2)|kidney(3)|large_intestine(4)|lung(5)|ovary(1)	17		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.0392)|Lung(218;0.129)		GAAGATCAGCAAATATGCTCC	0.443																																																	0													132.0	122.0	125.0					9																	6497316		2203	4300	6503	SO:0001583	missense	115426			AF274049	CCDS6469.1	9p24.1	2013-01-28	2012-02-23		ENSG00000147854	ENSG00000147854		"""RING-type (C3HC4) zinc fingers"", ""Zinc fingers, PHD-type"""	12557	protein-coding gene	gene with protein product	"""Np95-like ring finger protein"""	615211	"""ubiquitin-like with PHD and ring finger domains 2"""			12176013	Standard	NM_152896		Approved	RNF107, NIRF, URF2, MGC33463	uc003zjy.3	Q96PU4	OTTHUMG00000019521	ENST00000276893.5:c.1723A>G	9.37:g.6497316A>G	ENSP00000276893:p.Lys575Glu	Somatic		WXS	Illumina HiSeq	Phase_IV	Q5VYR1|Q5VYR3|Q659C8|Q8TAG7	Missense_Mutation	SNP	pfam_SRA_YDG,pfam_DUF3590,pfam_Ubiquitin,pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Ubiquitin,smart_Znf_PHD,smart_Znf_RING,smart_SRA_YDG,pfscan_SRA_YDG,pfscan_Znf_PHD-finger,pfscan_Znf_RING,pfscan_Ubiquitin_supergroup	p.K575E	ENST00000276893.5	37	c.1723	CCDS6469.1	9	.	.	.	.	.	.	.	.	.	.	A	19.20	3.781664	0.70222	.	.	ENSG00000147854	ENST00000276893	D	0.85861	-2.04	5.32	5.32	0.75619	SRA-YDG (4);	0.000000	0.85682	D	0.000000	D	0.85080	0.5615	L	0.35288	1.05	0.80722	D	1	P	0.39376	0.67	P	0.50352	0.638	D	0.84484	0.0607	10	0.38643	T	0.18	-15.8288	15.2829	0.73801	1.0:0.0:0.0:0.0	.	575	Q96PU4	UHRF2_HUMAN	E	575	ENSP00000276893:K575E	ENSP00000276893:K575E	K	+	1	0	UHRF2	6487316	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.251000	0.95483	2.024000	0.59613	0.528000	0.53228	AAA	UHRF2	-	pfam_SRA_YDG,smart_SRA_YDG,pfscan_SRA_YDG		0.443	UHRF2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	UHRF2	HGNC	protein_coding	OTTHUMT00000051665.3	A	NM_152306		6497316	+1	no_errors	ENST00000276893	ensembl	human	known	70_37	missense	SNP	1.000	G
UNC5CL	222643	genome.wustl.edu	37	6	41000851	41000851	+	Missense_Mutation	SNP	G	G	A			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr6:41000851G>A	ENST00000373164.1	-	3	781	c.721C>T	c.(721-723)Cgc>Tgc	p.R241C	UNC5CL_ENST00000470102.1_5'Flank|UNC5CL_ENST00000244565.3_Missense_Mutation_p.R241C			Q8IV45	UN5CL_HUMAN	unc-5 homolog C (C. elegans)-like	241	Interaction with RELA and NFKB1.				positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of JNK cascade (GO:0046330)|proteolysis (GO:0006508)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	peptidase activity (GO:0008233)			endometrium(1)|kidney(3)|large_intestine(3)|lung(3)|ovary(2)|upper_aerodigestive_tract(1)	13	Ovarian(28;0.0418)|Colorectal(47;0.196)					CGGGCTTCGCGCCCCACAGGT	0.602																																																	0													37.0	33.0	34.0					6																	41000851		2201	4300	6501	SO:0001583	missense	222643			BC035284	CCDS4847.1	6p21.1	2013-10-15			ENSG00000124602	ENSG00000124602			21203	protein-coding gene	gene with protein product	"""ZU5 and death domain containing"""					14769797	Standard	NM_173561		Approved	MGC34763, ZUD	uc003opi.3	Q8IV45	OTTHUMG00000014665	ENST00000373164.1:c.721C>T	6.37:g.41000851G>A	ENSP00000362258:p.Arg241Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q5TGU1	Missense_Mutation	SNP	pfam_ZU5,pfam_Death,superfamily_DEATH-like,smart_ZU5,smart_Death,pfscan_Death,pfscan_ZU5	p.R241C	ENST00000373164.1	37	c.721	CCDS4847.1	6	.	.	.	.	.	.	.	.	.	.	G	5.323	0.244951	0.10077	.	.	ENSG00000124602	ENST00000244565;ENST00000373164	T;T	0.16073	2.37;2.37	5.49	4.43	0.53597	.	1.611030	0.03789	N	0.262499	T	0.06005	0.0156	N	0.24115	0.695	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.17561	-1.0365	10	0.56958	D	0.05	-4.7319	10.0753	0.42358	0.1058:0.0:0.8942:0.0	.	241	Q8IV45	UN5CL_HUMAN	C	241	ENSP00000244565:R241C;ENSP00000362258:R241C	ENSP00000244565:R241C	R	-	1	0	UNC5CL	41108829	0.001000	0.12720	0.691000	0.30163	0.028000	0.11728	1.019000	0.30014	2.568000	0.86640	0.655000	0.94253	CGC	UNC5CL	-	NULL		0.602	UNC5CL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UNC5CL	HGNC	protein_coding	OTTHUMT00000040491.1	G	NM_173561		41000851	-1	no_errors	ENST00000244565	ensembl	human	known	70_37	missense	SNP	0.028	A
UNC5CL	222643	genome.wustl.edu	37	6	41002620	41002620	+	Nonsense_Mutation	SNP	G	G	C			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr6:41002620G>C	ENST00000373164.1	-	1	254	c.194C>G	c.(193-195)tCa>tGa	p.S65*	UNC5CL_ENST00000470102.1_5'Flank|UNC5CL_ENST00000244565.3_Nonsense_Mutation_p.S65*			Q8IV45	UN5CL_HUMAN	unc-5 homolog C (C. elegans)-like	65					positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of JNK cascade (GO:0046330)|proteolysis (GO:0006508)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	peptidase activity (GO:0008233)			endometrium(1)|kidney(3)|large_intestine(3)|lung(3)|ovary(2)|upper_aerodigestive_tract(1)	13	Ovarian(28;0.0418)|Colorectal(47;0.196)					GTGCTGCCTTGAGACCTCATT	0.587																																																	0													163.0	143.0	149.0					6																	41002620		2203	4300	6503	SO:0001587	stop_gained	222643			BC035284	CCDS4847.1	6p21.1	2013-10-15			ENSG00000124602	ENSG00000124602			21203	protein-coding gene	gene with protein product	"""ZU5 and death domain containing"""					14769797	Standard	NM_173561		Approved	MGC34763, ZUD	uc003opi.3	Q8IV45	OTTHUMG00000014665	ENST00000373164.1:c.194C>G	6.37:g.41002620G>C	ENSP00000362258:p.Ser65*	Somatic		WXS	Illumina HiSeq	Phase_IV	Q5TGU1	Nonsense_Mutation	SNP	pfam_ZU5,pfam_Death,superfamily_DEATH-like,smart_ZU5,smart_Death,pfscan_Death,pfscan_ZU5	p.S65*	ENST00000373164.1	37	c.194	CCDS4847.1	6	.	.	.	.	.	.	.	.	.	.	G	12.30	1.895493	0.33442	.	.	ENSG00000124602	ENST00000244565;ENST00000373164	.	.	.	4.66	3.76	0.43208	.	0.557699	0.16358	N	0.217889	.	.	.	.	.	.	0.19945	N	0.999944	.	.	.	.	.	.	.	.	.	.	0.20046	T	0.44	-0.3324	10.4811	0.44693	0.0:0.1969:0.8031:0.0	.	.	.	.	X	65	.	ENSP00000244565:S65X	S	-	2	0	UNC5CL	41110598	0.058000	0.20735	0.002000	0.10522	0.036000	0.12997	3.052000	0.49893	1.150000	0.42419	0.563000	0.77884	TCA	UNC5CL	-	NULL		0.587	UNC5CL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UNC5CL	HGNC	protein_coding	OTTHUMT00000040491.1	G	NM_173561		41002620	-1	no_errors	ENST00000244565	ensembl	human	known	70_37	nonsense	SNP	0.003	C
UNC79	57578	genome.wustl.edu	37	14	94004472	94004472	+	Silent	SNP	G	G	A	rs79294654		TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr14:94004472G>A	ENST00000393151.2	+	12	1260	c.1260G>A	c.(1258-1260)gcG>gcA	p.A420A	UNC79_ENST00000256339.4_Silent_p.A243A|UNC79_ENST00000553484.1_Silent_p.A420A|UNC79_ENST00000555664.1_Silent_p.A420A			Q9P2D8	UNC79_HUMAN	unc-79 homolog (C. elegans)	420					behavioral response to ethanol (GO:0048149)|ion transmembrane transport (GO:0034220)|multicellular organism growth (GO:0035264)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(3)|cervix(2)|endometrium(10)|kidney(7)|large_intestine(18)|liver(1)|lung(64)|ovary(1)|prostate(5)|skin(3)|urinary_tract(4)	118						GGGCCGCTGCGGAGACTCACC	0.597																																																	0								G		0,4406		0,0,2203	53.0	51.0	51.0		729	-7.5	0.0	14	dbSNP_131	51	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	UNC79	NM_020818.3		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		243/2459	94004472	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	57578			AB037830	CCDS9911.2	14q32.13	2011-08-18	2011-08-18	2011-08-18	ENSG00000133958	ENSG00000133958			19966	protein-coding gene	gene with protein product			"""KIAA1409"""	KIAA1409		20714347, 21040849	Standard	NM_020818		Approved		uc001ybs.1	Q9P2D8	OTTHUMG00000029783	ENST00000393151.2:c.1260G>A	14.37:g.94004472G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	B5MDL6|Q6ZUT7	Silent	SNP	superfamily_ARM-type_fold	p.A420	ENST00000393151.2	37	c.1260		14																																																																																			UNC79	-	NULL		0.597	UNC79-006	KNOWN	basic	protein_coding	UNC79	HGNC	protein_coding	OTTHUMT00000412766.1	G	XM_028395		94004472	+1	no_errors	ENST00000553484	ensembl	human	known	70_37	silent	SNP	0.073	A
UNC93A	54346	genome.wustl.edu	37	6	167719471	167719471	+	Silent	SNP	C	C	T			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr6:167719471C>T	ENST00000230256.3	+	6	1084	c.909C>T	c.(907-909)gaC>gaT	p.D303D	UNC93A_ENST00000366829.2_Silent_p.D261D	NM_018974.3	NP_061847.2	Q86WB7	UN93A_HUMAN	unc-93 homolog A (C. elegans)	303						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.D303E(1)		breast(2)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(7)|lung(20)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	40		Breast(66;7.62e-05)|Ovarian(120;0.105)		OV - Ovarian serous cystadenocarcinoma(33;2.22e-20)|BRCA - Breast invasive adenocarcinoma(81;6.17e-07)|GBM - Glioblastoma multiforme(31;0.00492)		CGGCCACTGACGCGCTGTGCT	0.607																																																	1	Substitution - Missense(1)	lung(1)											254.0	201.0	219.0					6																	167719471		2203	4300	6503	SO:0001819	synonymous_variant	54346			AJ508812	CCDS5300.1, CCDS47515.1	6q27	2014-05-16	2001-11-28		ENSG00000112494	ENSG00000112494			12570	protein-coding gene	gene with protein product		607995	"""unc93 (C.elegans) homolog A"""			12381271	Standard	NM_001143947		Approved	dJ366N23.2, dJ366N23.1	uc003qvq.3	Q86WB7	OTTHUMG00000016021	ENST00000230256.3:c.909C>T	6.37:g.167719471C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B3KRP5|Q4QQJ4|Q5JZD6	Silent	SNP	pfam_Ion_channel_UNC-93,superfamily_MFS_dom_general_subst_transpt	p.D303	ENST00000230256.3	37	c.909	CCDS5300.1	6																																																																																			UNC93A	-	superfamily_MFS_dom_general_subst_transpt		0.607	UNC93A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UNC93A	HGNC	protein_coding	OTTHUMT00000043125.2	C	NM_018974		167719471	+1	no_errors	ENST00000230256	ensembl	human	known	70_37	silent	SNP	0.003	T
UPF2	26019	genome.wustl.edu	37	10	12056181	12056181	+	Missense_Mutation	SNP	C	C	T			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr10:12056181C>T	ENST00000356352.2	-	3	1621	c.1148G>A	c.(1147-1149)cGc>cAc	p.R383H	UPF2_ENST00000357604.5_Missense_Mutation_p.R383H|UPF2_ENST00000397053.2_Missense_Mutation_p.R383H			Q9HAU5	RENT2_HUMAN	UPF2 regulator of nonsense transcripts homolog (yeast)	383	MIF4G 1.				gene expression (GO:0010467)|liver development (GO:0001889)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|organ regeneration (GO:0031100)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|exon-exon junction complex (GO:0035145)|nucleus (GO:0005634)	RNA binding (GO:0003723)			breast(3)|central_nervous_system(3)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(14)|lung(17)|ovary(2)|skin(3)|urinary_tract(2)	56		Renal(717;0.228)				ATGTAGAATGCGCCTATAAAC	0.338																																																	0													76.0	71.0	73.0					10																	12056181		2202	4300	6502	SO:0001583	missense	26019			AB037829	CCDS7086.1	10p14-p13	2011-06-21			ENSG00000151461	ENSG00000151461			17854	protein-coding gene	gene with protein product	"""smg-3 homolog, nonsense mediated mRNA decay factor (C. elegans)"""	605529				11073994, 11113196	Standard	NM_080599		Approved	RENT2, DKFZP434D222, KIAA1408, smg-3	uc001ilb.3	Q9HAU5	OTTHUMG00000017678	ENST00000356352.2:c.1148G>A	10.37:g.12056181C>T	ENSP00000348708:p.Arg383His	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NLJ5|D3DRS0|Q14BM1|Q5W0J4|Q8N8U1|Q9H1J2|Q9NWL1|Q9P2D9|Q9Y4M9	Missense_Mutation	SNP	pfam_MIF4G-like_typ-3,pfam_Up-fram_suppressor-2,superfamily_ARM-type_fold,smart_MIF4G-like_typ-3	p.R383H	ENST00000356352.2	37	c.1148	CCDS7086.1	10	.	.	.	.	.	.	.	.	.	.	C	23.7	4.442027	0.83993	.	.	ENSG00000151461	ENST00000356352;ENST00000357604;ENST00000379172;ENST00000397053;ENST00000313977	T;T;T	0.47869	0.83;0.83;0.83	5.6	5.6	0.85130	MIF4G-like, type 3 (1);	0.058207	0.64402	D	0.000001	T	0.42921	0.1224	L	0.46819	1.47	0.80722	D	1	B;P	0.38729	0.36;0.644	B;B	0.30572	0.073;0.117	T	0.45833	-0.9234	10	0.56958	D	0.05	.	19.6194	0.95649	0.0:1.0:0.0:0.0	.	353;383	Q9HAU5-2;Q9HAU5	.;RENT2_HUMAN	H	383;383;353;383;353	ENSP00000348708:R383H;ENSP00000350221:R383H;ENSP00000380244:R383H	ENSP00000313617:R353H	R	-	2	0	UPF2	12096187	1.000000	0.71417	1.000000	0.80357	0.930000	0.56654	7.818000	0.86416	2.628000	0.89032	0.446000	0.29264	CGC	UPF2	-	pfam_MIF4G-like_typ-3		0.338	UPF2-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	UPF2	HGNC	protein_coding	OTTHUMT00000046783.1	C			12056181	-1	no_errors	ENST00000356352	ensembl	human	known	70_37	missense	SNP	1.000	T
URB1	9875	genome.wustl.edu	37	21	33692922	33692922	+	Missense_Mutation	SNP	G	G	A			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr21:33692922G>A	ENST00000382751.3	-	35	5628	c.5513C>T	c.(5512-5514)gCt>gTt	p.A1838V		NM_014825.2	NP_055640.2	O60287	NPA1P_HUMAN	URB1 ribosome biogenesis 1 homolog (S. cerevisiae)	1838						nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)			NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(9)|kidney(3)|skin(1)|stomach(1)	19						AACCTGGGCAGCATTCTGTAG	0.378																																																	0													79.0	69.0	72.0					21																	33692922		692	1591	2283	SO:0001583	missense	9875			AB011111	CCDS46645.1	21q22.11	2006-11-28	2006-11-28	2006-11-28	ENSG00000142207	ENSG00000142207			17344	protein-coding gene	gene with protein product	nucleolar preribosomal-associated protein 1	608865	"""chromosome 21 open reading frame 108"""	C21orf108		9628581	Standard	NM_014825		Approved	KIAA0539, NPA1	uc002ypn.2	O60287	OTTHUMG00000064919	ENST00000382751.3:c.5513C>T	21.37:g.33692922G>A	ENSP00000372199:p.Ala1838Val	Somatic		WXS	Illumina HiSeq	Phase_IV	D3DSE5|Q96NX1|Q9NYQ1	Missense_Mutation	SNP	pfam_Npa1_N,superfamily_ARM-type_fold	p.A1838V	ENST00000382751.3	37	c.5513	CCDS46645.1	21	.	.	.	.	.	.	.	.	.	.	G	14.41	2.527877	0.44969	.	.	ENSG00000142207	ENST00000382751	T	0.32023	1.47	4.73	2.88	0.33553	.	0.253323	0.46442	N	0.000295	T	0.22044	0.0531	L	0.39566	1.225	0.41438	D	0.987909	B	0.15930	0.015	B	0.17433	0.018	T	0.06250	-1.0837	10	0.13470	T	0.59	-2.0128	10.1511	0.42794	0.157:0.0:0.843:0.0	.	1838	O60287	NPA1P_HUMAN	V	1838	ENSP00000372199:A1838V	ENSP00000372199:A1838V	A	-	2	0	URB1	32614793	1.000000	0.71417	0.008000	0.14137	0.979000	0.70002	5.418000	0.66429	0.504000	0.28082	0.561000	0.74099	GCT	URB1	-	superfamily_ARM-type_fold		0.378	URB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	URB1	HGNC	protein_coding	OTTHUMT00000139400.2	G			33692922	-1	no_errors	ENST00000382751	ensembl	human	known	70_37	missense	SNP	0.882	A
URI1	8725	genome.wustl.edu	37	19	30505884	30505884	+	Missense_Mutation	SNP	C	C	A			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr19:30505884C>A	ENST00000542441.2	+	11	1813	c.1516C>A	c.(1516-1518)Cca>Aca	p.P506T	URI1_ENST00000360605.4_Intron|URI1_ENST00000392271.1_Missense_Mutation_p.P430T|URI1_ENST00000312051.6_Missense_Mutation_p.P466T			O94763	RMP_HUMAN	URI1, prefoldin-like chaperone	506					cellular response to growth factor stimulus (GO:0071363)|cellular response to steroid hormone stimulus (GO:0071383)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|negative regulation of phosphatase activity (GO:0010923)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|protein folding (GO:0006457)|regulation of cell growth (GO:0001558)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to virus (GO:0009615)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|DNA-directed RNA polymerase II, core complex (GO:0005665)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|prefoldin complex (GO:0016272)	chromatin binding (GO:0003682)|protein phosphatase inhibitor activity (GO:0004864)|RNA polymerase II transcription corepressor activity (GO:0001106)										ACCCACTATTCCAGAACGAAA	0.433																																																	0													126.0	128.0	128.0					19																	30505884		2203	4300	6503	SO:0001583	missense	8725			AF091095	CCDS12420.1, CCDS58658.1	19q12	2012-04-17	2011-11-21	2011-11-21	ENSG00000105176	ENSG00000105176		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	13236	protein-coding gene	gene with protein product	"""unconventional prefoldin RPB5 interactor"", ""RPB5-mediating protein"", ""protein phosphatase 1, regulatory subunit 19"""	603494	"""chromosome 19 open reading frame 2"""	C19orf2		9878255, 9819440	Standard	NM_003796		Approved	RMP, NNX3, FLJ10575, URI, PPP1R19	uc002nsr.3	O94763		ENST00000542441.2:c.1516C>A	19.37:g.30505884C>A	ENSP00000442436:p.Pro506Thr	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K805|H7BY42|Q8TC23|Q9UNU3	Missense_Mutation	SNP	pfam_Prefoldin_subunit,superfamily_Prefoldin	p.P506T	ENST00000542441.2	37	c.1516	CCDS12420.1	19	.	.	.	.	.	.	.	.	.	.	C	14.85	2.657056	0.47467	.	.	ENSG00000105176	ENST00000392271;ENST00000542441;ENST00000312051	T	0.49432	0.78	6.07	6.07	0.98685	.	0.164449	0.56097	D	0.000033	T	0.58323	0.2114	L	0.55481	1.735	0.43835	D	0.996415	D;D	0.61697	0.984;0.99	P;P	0.55345	0.774;0.674	T	0.44329	-0.9335	10	0.14656	T	0.56	-15.4634	20.6439	0.99570	0.0:1.0:0.0:0.0	.	466;506	F8W9T0;O94763	.;RMP_HUMAN	T	430;506;466	ENSP00000442436:P506T	ENSP00000312530:P466T	P	+	1	0	C19orf2	35197724	1.000000	0.71417	1.000000	0.80357	0.360000	0.29518	5.349000	0.66010	2.890000	0.99128	0.650000	0.86243	CCA	URI1	-	NULL		0.433	URI1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	URI1	HGNC	protein_coding	OTTHUMT00000439756.1	C	NM_134447		30505884	+1	no_errors	ENST00000542441	ensembl	human	known	70_37	missense	SNP	0.998	A
USH1G	124590	genome.wustl.edu	37	17	72915595	72915595	+	Silent	SNP	G	G	T			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr17:72915595G>T	ENST00000319642.1	-	2	1518	c.1336C>A	c.(1336-1338)Cgg>Agg	p.R446R		NM_001282489.1|NM_173477.2	NP_001269418.1|NP_775748.2	Q495M9	USH1G_HUMAN	Usher syndrome 1G (autosomal recessive)	446	Poly-Arg.|SAM.				equilibrioception (GO:0050957)|inner ear morphogenesis (GO:0042472)|inner ear receptor cell differentiation (GO:0060113)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	spectrin binding (GO:0030507)		HN1/USH1G(2)	endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|prostate(1)|skin(3)	14	all_lung(278;0.172)|Lung NSC(278;0.207)					GCCTGCCGCCGCCTCCTCACG	0.677																																																	0													17.0	21.0	20.0					17																	72915595		2164	4252	6416	SO:0001819	synonymous_variant	124590			AK091243	CCDS32725.1	17q25.1	2013-01-10			ENSG00000182040	ENSG00000182040		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	16356	protein-coding gene	gene with protein product		607696				12588794	Standard	NM_001282489		Approved	Sans, FLJ33924, ANKS4A	uc002jme.1	Q495M9	OTTHUMG00000178864	ENST00000319642.1:c.1336C>A	17.37:g.72915595G>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q8N251	Silent	SNP	pfam_Ankyrin_rpt,pfam_SAM_type1,superfamily_Ankyrin_rpt-contain_dom,superfamily_SAM/pointed,smart_Ankyrin_rpt,smart_SAM,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.R446	ENST00000319642.1	37	c.1336	CCDS32725.1	17																																																																																			USH1G	-	superfamily_SAM/pointed,smart_SAM		0.677	USH1G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	USH1G	HGNC	protein_coding	OTTHUMT00000443676.1	G	NM_173477		72915595	-1	no_errors	ENST00000319642	ensembl	human	known	70_37	silent	SNP	0.970	T
USH2A	7399	genome.wustl.edu	37	1	215847796	215847796	+	Missense_Mutation	SNP	A	A	G			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr1:215847796A>G	ENST00000307340.3	-	63	13843	c.13457T>C	c.(13456-13458)gTa>gCa	p.V4486A	USH2A_ENST00000366943.2_Missense_Mutation_p.V4486A	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	4486	Fibronectin type-III 30. {ECO:0000255|PROSITE-ProRule:PRU00316}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		GCCTGTATATACAATGGTTCC	0.453										HNSCC(13;0.011)																																							0													161.0	160.0	160.0					1																	215847796		2203	4300	6503	SO:0001583	missense	7399			AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"""Fibronectin type III domain containing"""	12601	protein-coding gene	gene with protein product	"""usherin"""	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.13457T>C	1.37:g.215847796A>G	ENSP00000305941:p.Val4486Ala	Somatic		WXS	Illumina HiSeq	Phase_IV	Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_EGF_laminin,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_LamG-like,smart_Laminin_N,smart_EGF_laminin,smart_Fibronectin_type3,smart_Laminin_G,pfscan_EGF_laminin,pfscan_Fibronectin_type3,pfscan_Laminin_G,pfscan_Laminin_N	p.V4486A	ENST00000307340.3	37	c.13457	CCDS31025.1	1	.	.	.	.	.	.	.	.	.	.	A	14.45	2.540500	0.45176	.	.	ENSG00000042781	ENST00000307340;ENST00000366943	T;T	0.56941	0.43;0.43	4.41	4.41	0.53225	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.206537	0.23844	U	0.044012	T	0.65312	0.2679	M	0.85945	2.785	0.19575	N	0.999963	P	0.50819	0.939	P	0.51453	0.67	T	0.61192	-0.7112	10	0.25751	T	0.34	.	13.9406	0.64052	1.0:0.0:0.0:0.0	.	4486	O75445	USH2A_HUMAN	A	4486	ENSP00000305941:V4486A;ENSP00000355910:V4486A	ENSP00000305941:V4486A	V	-	2	0	USH2A	213914419	0.975000	0.34042	0.009000	0.14445	0.154000	0.21943	7.107000	0.77047	1.754000	0.51921	0.383000	0.25322	GTA	USH2A	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.453	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	USH2A	HGNC	protein_coding	OTTHUMT00000128138.1	A	NM_007123		215847796	-1	no_errors	ENST00000366943	ensembl	human	known	70_37	missense	SNP	0.196	G
USH2A	7399	genome.wustl.edu	37	1	215987235	215987235	+	Silent	SNP	G	G	A			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr1:215987235G>A	ENST00000307340.3	-	49	9968	c.9582C>T	c.(9580-9582)aaC>aaT	p.N3194N	USH2A_ENST00000366943.2_Silent_p.N3194N	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	3194	Fibronectin type-III 18. {ECO:0000255|PROSITE-ProRule:PRU00316}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		AGAGCACTCCGTTACAACAAA	0.358										HNSCC(13;0.011)																																							0													80.0	75.0	76.0					1																	215987235		2203	4300	6503	SO:0001819	synonymous_variant	7399			AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"""Fibronectin type III domain containing"""	12601	protein-coding gene	gene with protein product	"""usherin"""	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.9582C>T	1.37:g.215987235G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q5VVM9|Q6S362|Q9NS27	Silent	SNP	pfam_Fibronectin_type3,pfam_EGF_laminin,pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,superfamily_Fibronectin_type3,smart_LamG-like,smart_Laminin_N,smart_EGF_laminin,smart_Fibronectin_type3,smart_Laminin_G,pfscan_EGF_laminin,pfscan_Fibronectin_type3,pfscan_Laminin_G,pfscan_Laminin_N	p.N3194	ENST00000307340.3	37	c.9582	CCDS31025.1	1																																																																																			USH2A	-	superfamily_Fibronectin_type3,smart_Fibronectin_type3		0.358	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	USH2A	HGNC	protein_coding	OTTHUMT00000128138.1	G	NM_007123		215987235	-1	no_errors	ENST00000366943	ensembl	human	known	70_37	silent	SNP	0.415	A
USP30	84749	genome.wustl.edu	37	12	109505432	109505432	+	Splice_Site	SNP	G	G	A			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr12:109505432G>A	ENST00000257548.5	+	4	573	c.480G>A	c.(478-480)caG>caA	p.Q160Q	USP30_ENST00000392784.2_Splice_Site_p.Q129Q	NM_032663.3	NP_116052.2	Q70CQ3	UBP30_HUMAN	ubiquitin specific peptidase 30	160	USP.				mitochondrial fusion (GO:0008053)|mitochondrion degradation (GO:0000422)|protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)	integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	cysteine-type endopeptidase activity (GO:0004197)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)			endometrium(7)|kidney(1)|large_intestine(1)|liver(2)|lung(11)|prostate(1)|skin(3)|stomach(2)	28						TTGAAGAACAGGTGAGTACAA	0.443																																																	0													155.0	141.0	146.0					12																	109505432		2203	4300	6503	SO:0001630	splice_region_variant	84749			BC022094	CCDS9123.2	12q23.3	2006-01-20	2005-08-08		ENSG00000135093	ENSG00000135093		"""Ubiquitin-specific peptidases"""	20065	protein-coding gene	gene with protein product		612492	"""ubiquitin specific protease 30"""			12838346	Standard	XM_005253962		Approved	MGC10702, FLJ40511	uc010sxi.2	Q70CQ3	OTTHUMG00000133613	ENST00000257548.5:c.480+1G>A	12.37:g.109505432G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q8WTU7|Q96JX4|Q9BSS3	Silent	SNP	pfam_Peptidase_C19,pfscan_Peptidase_C19	p.Q160	ENST00000257548.5	37	c.480	CCDS9123.2	12																																																																																			USP30	-	pfam_Peptidase_C19,pfscan_Peptidase_C19		0.443	USP30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	USP30	HGNC	protein_coding	OTTHUMT00000257733.2	G	NM_032663	Silent	109505432	+1	no_errors	ENST00000257548	ensembl	human	known	70_37	silent	SNP	1.000	A
USP9X	8239	genome.wustl.edu	37	X	40999952	40999952	+	Missense_Mutation	SNP	G	G	A			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chrX:40999952G>A	ENST00000324545.8	+	7	1331	c.698G>A	c.(697-699)gGg>gAg	p.G233E	USP9X_ENST00000378308.2_Missense_Mutation_p.G233E	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	Q93008	USP9X_HUMAN	ubiquitin specific peptidase 9, X-linked	233					axon extension (GO:0048675)|BMP signaling pathway (GO:0030509)|cerebellar cortex structural organization (GO:0021698)|chromosome segregation (GO:0007059)|female gamete generation (GO:0007292)|gene expression (GO:0010467)|hippocampus development (GO:0021766)|in utero embryonic development (GO:0001701)|mitotic nuclear division (GO:0007067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|post-embryonic development (GO:0009791)|protein deubiquitination (GO:0016579)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent protein catabolic process (GO:0006511)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|growth cone (GO:0030426)|membrane (GO:0016020)	co-SMAD binding (GO:0070410)|cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)|ubiquitin thiolesterase activity (GO:0004221)			NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						ACTTTAAATGGGTTCCAGATT	0.318																																					Ovarian(172;1807 2695 35459 49286)												0													111.0	99.0	103.0					X																	40999952		2202	4298	6500	SO:0001583	missense	8239			X98296	CCDS43930.1, CCDS55403.1	Xp11.4	2010-08-03	2006-02-14		ENSG00000124486	ENSG00000124486		"""Ubiquitin-specific peptidases"""	12632	protein-coding gene	gene with protein product		300072	"""ubiquitin specific protease 9, X chromosome (fat facets-like Drosophila)"", ""ubiquitin specific protease 9, X-linked (fat facets-like, Drosophila)"", ""ubiquitin specific peptidase 9, X-linked (fat facets-like, Drosophila)"""			8922996	Standard	NM_001039590		Approved	DFFRX, FAF	uc004dfb.3	Q93008	OTTHUMG00000021367	ENST00000324545.8:c.698G>A	X.37:g.40999952G>A	ENSP00000316357:p.Gly233Glu	Somatic		WXS	Illumina HiSeq	Phase_IV	O75550|Q8WWT3|Q8WX12	Missense_Mutation	SNP	pfam_Peptidase_C19,superfamily_ARM-type_fold,pfscan_Peptidase_C19	p.G233E	ENST00000324545.8	37	c.698	CCDS43930.1	X	.	.	.	.	.	.	.	.	.	.	G	26.0	4.690451	0.88735	.	.	ENSG00000124486	ENST00000378308;ENST00000324545	T;T	0.21361	2.01;2.01	6.06	6.06	0.98353	.	0.000000	0.85682	D	0.000000	T	0.52565	0.1742	M	0.81341	2.54	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.55173	-0.8182	10	0.87932	D	0	.	19.5004	0.95091	0.0:0.0:1.0:0.0	.	233;233	Q93008-1;Q93008	.;USP9X_HUMAN	E	233	ENSP00000367558:G233E;ENSP00000316357:G233E	ENSP00000316357:G233E	G	+	2	0	USP9X	40884896	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.476000	0.97823	2.560000	0.86352	0.594000	0.82650	GGG	USP9X	-	NULL		0.318	USP9X-003	KNOWN	basic|CCDS	protein_coding	USP9X	HGNC	protein_coding	OTTHUMT00000056250.4	G	NM_004652		40999952	+1	no_errors	ENST00000324545	ensembl	human	known	70_37	missense	SNP	1.000	A
USP9X	8239	genome.wustl.edu	37	X	41089034	41089035	+	Frame_Shift_Ins	INS	-	-	A			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chrX:41089034_41089035insA	ENST00000324545.8	+	43	8066_8067	c.7433_7434insA	c.(7432-7437)gtaaaafs	p.VK2478fs	USP9X_ENST00000378308.2_Splice_Site	NM_001039590.2|NM_001039591.2	NP_001034679.2|NP_001034680.2	Q93008	USP9X_HUMAN	ubiquitin specific peptidase 9, X-linked	2478					axon extension (GO:0048675)|BMP signaling pathway (GO:0030509)|cerebellar cortex structural organization (GO:0021698)|chromosome segregation (GO:0007059)|female gamete generation (GO:0007292)|gene expression (GO:0010467)|hippocampus development (GO:0021766)|in utero embryonic development (GO:0001701)|mitotic nuclear division (GO:0007067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|post-embryonic development (GO:0009791)|protein deubiquitination (GO:0016579)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent protein catabolic process (GO:0006511)	apical part of cell (GO:0045177)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|growth cone (GO:0030426)|membrane (GO:0016020)	co-SMAD binding (GO:0070410)|cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)|ubiquitin thiolesterase activity (GO:0004221)	p.?(2)		NS(3)|breast(6)|central_nervous_system(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(16)|lung(29)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87						CCAGAGGAGGTAAAAAAAGCCA	0.371														1	0.000264901	0.0	0.0014	3775	,	,		12931	0.0		0.0	False		,,,				2504	0.0				Ovarian(172;1807 2695 35459 49286)												2	Unknown(2)	large_intestine(2)																																								SO:0001589	frameshift_variant	8239			X98296	CCDS43930.1, CCDS55403.1	Xp11.4	2010-08-03	2006-02-14		ENSG00000124486	ENSG00000124486		"""Ubiquitin-specific peptidases"""	12632	protein-coding gene	gene with protein product		300072	"""ubiquitin specific protease 9, X chromosome (fat facets-like Drosophila)"", ""ubiquitin specific protease 9, X-linked (fat facets-like, Drosophila)"", ""ubiquitin specific peptidase 9, X-linked (fat facets-like, Drosophila)"""			8922996	Standard	NM_001039590		Approved	DFFRX, FAF	uc004dfb.3	Q93008	OTTHUMG00000021367	ENST00000324545.8:c.7440dupA	X.37:g.41089041_41089041dupA	ENSP00000316357:p.Val2478fs	Somatic		WXS	Illumina HiSeq	Phase_IV	O75550|Q8WWT3|Q8WX12	Frame_Shift_Ins	INS	pfam_Peptidase_C19,superfamily_ARM-type_fold,pfscan_Peptidase_C19	p.A2481fs	ENST00000324545.8	37	c.7433_7434	CCDS43930.1	X																																																																																			USP9X	-	NULL		0.371	USP9X-003	KNOWN	basic|CCDS	protein_coding	USP9X	HGNC	protein_coding	OTTHUMT00000056250.4	-	NM_004652		41089035	+1	no_errors	ENST00000324545	ensembl	human	known	70_37	frame_shift_ins	INS	1.000:1.000	A
UTP14A	10813	genome.wustl.edu	37	X	129042055	129042055	+	Missense_Mutation	SNP	G	G	C	rs201734952		TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chrX:129042055G>C	ENST00000394422.3	+	3	150	c.122G>C	c.(121-123)aGa>aCa	p.R41T	UTP14A_ENST00000371051.5_Missense_Mutation_p.E9Q|RP4-537K23.4_ENST00000432062.1_RNA|UTP14A_ENST00000425117.2_Missense_Mutation_p.R41T	NM_006649.3	NP_006640.2	Q9BVJ6	UT14A_HUMAN	UTP14, U3 small nucleolar ribonucleoprotein, homolog A (yeast)	41					rRNA processing (GO:0006364)	nucleus (GO:0005634)|small-subunit processome (GO:0032040)	poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|liver(2)|lung(16)|ovary(3)|urinary_tract(1)	32						GATGGAGAGAGAAAGCATCAA	0.423																																																	0													111.0	97.0	102.0					X																	129042055		2203	4300	6503	SO:0001583	missense	10813			AF039694	CCDS14615.1, CCDS55489.1	Xq26.1	2009-01-15	2004-06-01	2004-06-01	ENSG00000156697	ENSG00000156697			10665	protein-coding gene	gene with protein product		300508	"""serologically defined colon cancer antigen 16"""	SDCCAG16		9610721, 16354793	Standard	NM_006649		Approved	NY-CO-16	uc004euz.3	Q9BVJ6	OTTHUMG00000022378	ENST00000394422.3:c.122G>C	X.37:g.129042055G>C	ENSP00000377944:p.Arg41Thr	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K7A3|A8MVQ1|B4DQ08|E9PEL7|Q5JYF1	Missense_Mutation	SNP	pfam_SSU_processome_Utp14	p.R41T	ENST00000394422.3	37	c.122	CCDS14615.1	X	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.18|18.18	3.566524|3.566524	0.65651|0.65651	.|.	.|.	ENSG00000156697|ENSG00000156697	ENST00000371051|ENST00000425117;ENST00000394422	T|T;T	0.19532|0.17528	2.14|2.27;2.27	5.0|5.0	5.0|5.0	0.66597|0.66597	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.42017|0.42017	0.1184|0.1184	M|M	0.84846|0.84846	2.72|2.72	0.80722|0.80722	D|D	1|1	P|D;D	0.51537|0.71674	0.946|0.998;0.997	P|D;D	0.49421|0.67231	0.61|0.95;0.925	T|T	0.42649|0.42649	-0.9439|-0.9439	9|10	0.20046|0.16420	T|T	0.44|0.52	-8.7759|-8.7759	14.7345|14.7345	0.69406|0.69406	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	9|41;41	F8WD00|E9PEL7;Q9BVJ6	.|.;UT14A_HUMAN	Q|T	9|41	ENSP00000360090:E9Q|ENSP00000388669:R41T;ENSP00000377944:R41T	ENSP00000360090:E9Q|ENSP00000377944:R41T	E|R	+|+	1|2	0|0	UTP14A|UTP14A	128869736|128869736	1.000000|1.000000	0.71417|0.71417	0.997000|0.997000	0.53966|0.53966	0.824000|0.824000	0.46624|0.46624	4.283000|4.283000	0.58977|0.58977	2.060000|2.060000	0.61445|0.61445	0.422000|0.422000	0.28245|0.28245	GAA|AGA	UTP14A	-	pfam_SSU_processome_Utp14		0.423	UTP14A-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	UTP14A	HGNC	protein_coding	OTTHUMT00000058221.1	G	NM_006649		129042055	+1	no_errors	ENST00000394422	ensembl	human	known	70_37	missense	SNP	1.000	C
UTS2B	257313	genome.wustl.edu	37	3	190995868	190995868	+	Silent	SNP	G	G	A			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr3:190995868G>A	ENST00000340524.5	-	6	981	c.195C>T	c.(193-195)ttC>ttT	p.F65F	UTS2B_ENST00000427544.2_Silent_p.F65F	NM_198152.3	NP_937795.2	Q765I0	UTS2B_HUMAN	urotensin 2B	65					regulation of blood pressure (GO:0008217)|regulation of vasodilation (GO:0042312)	extracellular region (GO:0005576)											CACCAGTGTTGAAAGGTCTTT	0.254																																																	0													53.0	55.0	54.0					3																	190995868		2202	4292	6494	SO:0001819	synonymous_variant	257313			AB116021	CCDS3300.1	3q28	2013-02-28	2013-02-28	2013-02-28	ENSG00000188958	ENSG00000188958		"""Endogenous ligands"""	30894	protein-coding gene	gene with protein product	"""prepro-URP"""		"""urotensin 2 domain containing"""	UTS2D		14550283	Standard	NM_198152		Approved	URP, U2B	uc003fsu.3	Q765I0	OTTHUMG00000156192	ENST00000340524.5:c.195C>T	3.37:g.190995868G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	B3KQY8|D3DNW1|Q2M1Z2	Silent	SNP	NULL	p.F65	ENST00000340524.5	37	c.195	CCDS3300.1	3																																																																																			UTS2D	-	NULL		0.254	UTS2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UTS2D	HGNC	protein_coding	OTTHUMT00000343353.1	G	NM_198152		190995868	-1	no_errors	ENST00000446788	ensembl	human	known	70_37	silent	SNP	0.000	A
UXT	8409	genome.wustl.edu	37	X	47511528	47511528	+	Silent	SNP	G	G	A			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chrX:47511528G>A	ENST00000333119.3	-	6	427	c.372C>T	c.(370-372)ctC>ctT	p.L124L	ELK1_ENST00000343894.4_5'Flank|UXT_ENST00000460840.1_5'UTR|ELK1_ENST00000592066.1_5'Flank|ELK1_ENST00000247161.3_5'Flank|ELK1_ENST00000468956.1_5'Flank|ELK1_ENST00000376983.3_5'Flank|UXT_ENST00000335890.2_Silent_p.L136L	NM_004182.3	NP_004173.1	Q9UBK9	UXT_HUMAN	ubiquitously-expressed, prefoldin-like chaperone	124					centrosome organization (GO:0051297)|microtubule cytoskeleton organization (GO:0000226)|mitochondrion transport along microtubule (GO:0047497)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|protein folding (GO:0006457)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|microtubule organizing center (GO:0005815)|nucleus (GO:0005634)|prefoldin complex (GO:0016272)	beta-tubulin binding (GO:0048487)|chromatin binding (GO:0003682)|microtubule binding (GO:0008017)|RNA polymerase II transcription corepressor activity (GO:0001106)			central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(1)	6						AGTCCTTGGTGAGGCTGTTGC	0.463																																																	0													107.0	89.0	95.0					X																	47511528		2203	4300	6503	SO:0001819	synonymous_variant	8409			AF092737	CCDS14284.1, CCDS14285.1	Xp11.23-p11.22	2011-11-21	2011-11-21		ENSG00000126756	ENSG00000126756			12641	protein-coding gene	gene with protein product	"""androgen receptor trapped clone 27"", ""SKP2-associated alpha PFD 1"""	300234	"""ubiquitously-expressed transcript"""			10087202, 16221885	Standard	NM_004182		Approved	ART-27, STAP1	uc004dim.3	Q9UBK9	OTTHUMG00000021453	ENST00000333119.3:c.372C>T	X.37:g.47511528G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	B2R561|Q5JZG3|Q9Y6E5	Silent	SNP	pfam_Prefoldin_subunit,superfamily_Prefoldin,prints_PFD_UXT	p.L136	ENST00000333119.3	37	c.408	CCDS14285.1	X																																																																																			UXT	-	pfam_Prefoldin_subunit,superfamily_Prefoldin		0.463	UXT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UXT	HGNC	protein_coding	OTTHUMT00000056440.1	G	NM_153477		47511528	-1	no_errors	ENST00000335890	ensembl	human	known	70_37	silent	SNP	1.000	A
VCAN	1462	genome.wustl.edu	37	5	82849201	82849201	+	Missense_Mutation	SNP	A	A	G			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr5:82849201A>G	ENST00000265077.3	+	11	10077	c.9512A>G	c.(9511-9513)tAt>tGt	p.Y3171C	VCAN-AS1_ENST00000512090.1_RNA|VCAN_ENST00000512590.2_Missense_Mutation_p.Y1369C|VCAN_ENST00000502527.2_Missense_Mutation_p.Y430C|VCAN-AS1_ENST00000513899.1_RNA|VCAN_ENST00000342785.4_Missense_Mutation_p.Y1417C|VCAN_ENST00000343200.5_Missense_Mutation_p.Y2184C|VCAN_ENST00000513016.1_3'UTR	NM_004385.4	NP_004376.2	P13611	CSPG2_HUMAN	versican	3171					carbohydrate metabolic process (GO:0005975)|cell adhesion (GO:0007155)|cell recognition (GO:0008037)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix organization (GO:0030198)|glial cell migration (GO:0008347)|glycosaminoglycan metabolic process (GO:0030203)|heart development (GO:0007507)|multicellular organismal development (GO:0007275)|osteoblast differentiation (GO:0001649)|small molecule metabolic process (GO:0044281)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|intracellular membrane-bounded organelle (GO:0043231)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|glycosaminoglycan binding (GO:0005539)|hyaluronic acid binding (GO:0005540)			NS(2)|biliary_tract(1)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(52)|lung(64)|ovary(8)|pancreas(3)|prostate(13)|skin(14)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	190		Lung NSC(167;0.0216)|all_lung(232;0.0251)|Ovarian(174;0.142)		OV - Ovarian serous cystadenocarcinoma(54;2.47e-41)|Epithelial(54;2.51e-34)|all cancers(79;5.19e-29)	Hyaluronan(DB08818)	ACATGTGACTATGGCTGGCAC	0.502																																																	0													118.0	104.0	109.0					5																	82849201		2203	4300	6503	SO:0001583	missense	1462			X15998	CCDS4060.1, CCDS47242.1, CCDS54875.1, CCDS54876.1	5q14.2-q14.3	2013-05-07	2007-02-15	2007-02-15	ENSG00000038427	ENSG00000038427		"""Immunoglobulin superfamily / V-set domain containing"", ""Proteoglycans / Extracellular Matrix : Hyalectans"""	2464	protein-coding gene	gene with protein product	"""versican proteoglycan"""	118661	"""chondroitin sulfate proteoglycan 2"""	CSPG2		1478664, 21063030	Standard	NM_004385		Approved	PG-M	uc003kii.3	P13611	OTTHUMG00000131321	ENST00000265077.3:c.9512A>G	5.37:g.82849201A>G	ENSP00000265077:p.Tyr3171Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	P20754|Q13010|Q13189|Q15123|Q9UCL9|Q9UNW5	Missense_Mutation	SNP	pfam_Link,pfam_C-type_lectin,pfam_Ig_V-set,pfam_EG-like_dom,pfam_Sushi_SCR_CCP,superfamily_C-type_lectin_fold,superfamily_Complement_control_module,smart_Ig_sub,smart_Link,smart_EG-like_dom,smart_EGF-like_Ca-bd,smart_C-type_lectin,smart_Sushi_SCR_CCP,pfscan_EG-like_dom,pfscan_C-type_lectin,pfscan_Link,pfscan_Sushi_SCR_CCP,pfscan_Ig-like,prints_Link	p.Y3171C	ENST00000265077.3	37	c.9512	CCDS4060.1	5	.	.	.	.	.	.	.	.	.	.	A	18.60	3.658055	0.67586	.	.	ENSG00000038427	ENST00000265077;ENST00000343200;ENST00000342785;ENST00000512590;ENST00000502527	T;T;T;T;T	0.17213	2.29;2.29;2.29;2.29;2.29	6.06	6.06	0.98353	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (1);	0.000000	0.56097	D	0.000030	T	0.29716	0.0742	N	0.25245	0.725	0.42035	D	0.99104	D;D;D;D	0.89917	1.0;0.999;0.981;1.0	D;D;D;D	0.91635	0.996;0.947;0.99;0.999	T	0.04440	-1.0951	10	0.44086	T	0.13	.	16.6093	0.84858	1.0:0.0:0.0:0.0	.	1417;430;2184;3171	P13611-3;P13611-4;P13611-2;P13611	.;.;.;CSPG2_HUMAN	C	3171;2184;1417;1369;430	ENSP00000265077:Y3171C;ENSP00000340062:Y2184C;ENSP00000342768:Y1417C;ENSP00000425959:Y1369C;ENSP00000421362:Y430C	ENSP00000265077:Y3171C	Y	+	2	0	VCAN	82884957	1.000000	0.71417	0.952000	0.39060	0.842000	0.47809	4.789000	0.62446	2.324000	0.78689	0.533000	0.62120	TAT	VCAN	-	superfamily_C-type_lectin_fold,smart_C-type_lectin		0.502	VCAN-001	KNOWN	basic|CCDS	protein_coding	VCAN	HGNC	protein_coding	OTTHUMT00000254092.3	A	NM_004385		82849201	+1	no_errors	ENST00000265077	ensembl	human	known	70_37	missense	SNP	0.986	G
VCL	7414	genome.wustl.edu	37	10	75834509	75834510	+	Frame_Shift_Ins	INS	-	-	T			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr10:75834509_75834510insT	ENST00000211998.4	+	6	725_726	c.631_632insT	c.(631-633)attfs	p.I211fs	VCL_ENST00000372755.3_Frame_Shift_Ins_p.I211fs|VCL_ENST00000478896.2_Intron|VCL_ENST00000417648.2_Intron	NM_014000.2	NP_054706.1	P18206	VINC_HUMAN	vinculin	211	N-terminal globular head.				adherens junction assembly (GO:0034333)|apical junction assembly (GO:0043297)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-matrix adhesion (GO:0007160)|cellular component movement (GO:0006928)|epithelial cell-cell adhesion (GO:0090136)|lamellipodium assembly (GO:0030032)|morphogenesis of an epithelium (GO:0002009)|muscle contraction (GO:0006936)|negative regulation of cell migration (GO:0030336)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|protein localization to cell surface (GO:0034394)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cell-substrate junction (GO:0030055)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|vesicle (GO:0031982)	actin binding (GO:0003779)|alpha-catenin binding (GO:0045294)|beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|dystroglycan binding (GO:0002162)|structural molecule activity (GO:0005198)		VCL/ALK(4)	breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)	20	Prostate(51;0.0112)					AGCTATGAAGATTTTTGTAACA	0.272																																																	0																																										SO:0001589	frameshift_variant	7414			M33308	CCDS7340.1, CCDS7341.1	10q22.1-q23	2014-09-17			ENSG00000035403	ENSG00000035403			12665	protein-coding gene	gene with protein product	"""metavinculin"""	193065				1339348	Standard	NM_014000		Approved		uc001jwd.3	P18206	OTTHUMG00000018498	ENST00000211998.4:c.636dupT	10.37:g.75834514_75834514dupT	ENSP00000211998:p.Ile211fs	Somatic		WXS	Illumina HiSeq	Phase_IV	Q16450|Q5SWX2|Q7Z3B8|Q8IXU7	Frame_Shift_Ins	INS	pfam_Vinculin/catenin,superfamily_Vinculin/catenin,prints_Vinculin	p.V213fs	ENST00000211998.4	37	c.631_632	CCDS7341.1	10																																																																																			VCL	-	pfam_Vinculin/catenin,superfamily_Vinculin/catenin		0.272	VCL-201	KNOWN	basic|appris_principal|CCDS	protein_coding	VCL	HGNC	protein_coding		-	NM_003373, NM_014000		75834510	+1	no_errors	ENST00000211998	ensembl	human	known	70_37	frame_shift_ins	INS	1.000:1.000	T
VMP1	81671	genome.wustl.edu	37	17	57917481	57917481	+	3'UTR	SNP	T	T	C			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr17:57917481T>C	ENST00000262291.4	+	0	1740				VMP1_ENST00000545362.1_3'UTR|VMP1_ENST00000537567.1_3'UTR|VMP1_ENST00000588617.1_3'UTR|MIR21_ENST00000362134.1_RNA|VMP1_ENST00000539763.1_3'UTR	NM_030938.3	NP_112200.2	Q96GC9	VMP1_HUMAN	vacuole membrane protein 1						autophagy (GO:0006914)|cell junction assembly (GO:0034329)|embryo implantation (GO:0007566)|regulation of autophagy (GO:0010506)|single organismal cell-cell adhesion (GO:0016337)	autophagic vacuole membrane (GO:0000421)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|pre-autophagosomal structure (GO:0000407)				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(4)|skin(2)	16						CAATCCACCTTGTGTTTTCTT	0.408																																																	0																																										SO:0001624	3_prime_UTR_variant	81671				CCDS11619.1	17q23.1	2014-05-20	2011-03-02	2011-03-02	ENSG00000062716	ENSG00000062716			29559	protein-coding gene	gene with protein product	"""ectopic P-granules autophagy protein 3 homolog (C. elegans)"", ""transport and golgi organization 5 homolog (Drosophila)"""	611753	"""transmembrane protein 49"""	TMEM49		11230166, 11785947	Standard	NM_030938		Approved	EPG3, TANGO5	uc002ixu.4	Q96GC9	OTTHUMG00000179882	ENST00000262291.4:c.*209T>C	17.37:g.57917481T>C		Somatic		WXS	Illumina HiSeq	Phase_IV	B4DVV9|Q9H0P4|Q9P089	RNA	SNP	-	NULL	ENST00000262291.4	37	NULL	CCDS11619.1	17																																																																																			VMP1	-	-		0.408	VMP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VMP1	HGNC	protein_coding	OTTHUMT00000448793.1	T	NM_030938		57917481	+1	no_errors	ENST00000588617	ensembl	human	known	70_37	rna	SNP	0.009	C
VPRBP	9730	genome.wustl.edu	37	3	51452260	51452260	+	Missense_Mutation	SNP	G	G	C			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr3:51452260G>C	ENST00000335891.5	-	11	2317	c.2308C>G	c.(2308-2310)Ctt>Gtt	p.L770V				Q9Y4B6	VPRBP_HUMAN	Vpr (HIV-1) binding protein	1219					B cell differentiation (GO:0030183)|cell competition in a multicellular organism (GO:0035212)|histone H2A-T120 phosphorylation (GO:1990245)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|protein ubiquitination (GO:0016567)|transcription, DNA-templated (GO:0006351)|V(D)J recombination (GO:0033151)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|histone kinase activity (H2A-T120 specific) (GO:1990244)			breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	41				BRCA - Breast invasive adenocarcinoma(193;0.000272)|Kidney(197;0.000729)|KIRC - Kidney renal clear cell carcinoma(197;0.000875)		TTGTTGGCAAGATCTGGGTTA	0.443																																																	0													108.0	99.0	102.0					3																	51452260		1915	4121	6036	SO:0001583	missense	9730			AB018343	CCDS74943.1, CCDS74944.1	3p21.2	2011-06-17			ENSG00000145041	ENSG00000145041		"""DDB1 and CUL4 associated factors"""	30911	protein-coding gene	gene with protein product	"""DDB1 and CUL4 associated factor 1"""					8195203, 11223251	Standard	NM_014703		Approved	KIAA0800, MGC102804, DCAF1	uc003dbe.2	Q9Y4B6	OTTHUMG00000156895	ENST00000335891.5:c.2308C>G	3.37:g.51452260G>C	ENSP00000338857:p.Leu770Val	Somatic		WXS	Illumina HiSeq	Phase_IV	Q2YD74|Q8TBD9|Q9HCA1|Q9UG37	Missense_Mutation	SNP	superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_LisH_dimerisation,pfscan_LisH_dimerisation	p.L770V	ENST00000335891.5	37	c.2308		3	.	.	.	.	.	.	.	.	.	.	G	22.3	4.277192	0.80580	.	.	ENSG00000145041	ENST00000423656;ENST00000335891	T;T	0.56941	0.43;0.43	6.07	6.07	0.98685	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.68924	0.3054	M	0.63843	1.955	0.80722	D	1	D	0.56035	0.974	D	0.70487	0.969	T	0.66464	-0.5917	10	0.45353	T	0.12	-15.5469	14.7534	0.69546	0.0685:0.0:0.9315:0.0	.	1219	Q9Y4B6	VPRBP_HUMAN	V	790;770	ENSP00000393183:L790V;ENSP00000338857:L770V	ENSP00000338857:L770V	L	-	1	0	VPRBP	51427300	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.585000	0.82584	2.890000	0.99128	0.650000	0.86243	CTT	VPRBP	-	superfamily_WD40_repeat_dom,superfamily_ARM-type_fold		0.443	VPRBP-201	KNOWN	basic|appris_principal	protein_coding	VPRBP	HGNC	protein_coding		G	NM_014703		51452260	-1	no_errors	ENST00000335891	ensembl	human	known	70_37	missense	SNP	1.000	C
VPS13B	157680	genome.wustl.edu	37	8	100796656	100796656	+	Silent	SNP	G	G	A	rs145460276		TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr8:100796656G>A	ENST00000358544.2	+	43	8079	c.7968G>A	c.(7966-7968)gcG>gcA	p.A2656A	VPS13B_ENST00000395996.1_3'UTR|VPS13B_ENST00000357162.2_Silent_p.A2631A	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	2656					protein transport (GO:0015031)					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			TTCTGCTGGCGAGTCTCCACA	0.473																																					Colon(161;2205 2542 7338 31318)												0								G	,	0,4406		0,0,2203	115.0	111.0	112.0		7968,7893	-5.1	1.0	8	dbSNP_134	112	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	VPS13B	NM_017890.3,NM_152564.3	,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,	2656/4023,2631/3998	100796656	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	157680			AJ608772	CCDS6280.1, CCDS6281.1, CCDS6283.1, CCDS47903.1	8q22-q23	2014-09-17	2006-12-19	2005-04-08	ENSG00000132549	ENSG00000132549			2183	protein-coding gene	gene with protein product		607817	"""Cohen syndrome 1"""	CHS1, COH1		7920642, 15498460	Standard	NM_181661		Approved		uc003yiv.4	Q7Z7G8	OTTHUMG00000140383	ENST00000358544.2:c.7968G>A	8.37:g.100796656G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	C9JD30|Q709C6|Q709C7|Q7Z7G4|Q7Z7G5|Q7Z7G6|Q7Z7G7|Q8NB77|Q9NWV1|Q9Y4E7	Silent	SNP	pfam_Autophagy-rel_C	p.A2656	ENST00000358544.2	37	c.7968	CCDS6280.1	8																																																																																			VPS13B	-	NULL		0.473	VPS13B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	VPS13B	HGNC	protein_coding	OTTHUMT00000277138.1	G	NM_184042		100796656	+1	no_errors	ENST00000358544	ensembl	human	known	70_37	silent	SNP	0.942	A
VPS54	51542	genome.wustl.edu	37	2	64211004	64211004	+	Missense_Mutation	SNP	G	G	T			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr2:64211004G>T	ENST00000272322.4	-	2	284	c.130C>A	c.(130-132)Ccc>Acc	p.P44T	VPS54_ENST00000409558.4_Missense_Mutation_p.P44T			Q9P1Q0	VPS54_HUMAN	vacuolar protein sorting 54 homolog (S. cerevisiae)	44					growth (GO:0040007)|homeostasis of number of cells within a tissue (GO:0048873)|musculoskeletal movement (GO:0050881)|neurofilament cytoskeleton organization (GO:0060052)|protein transport (GO:0015031)|retrograde transport, endosome to Golgi (GO:0042147)	GARP complex (GO:0000938)				endometrium(3)|kidney(4)|large_intestine(8)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	27						TTACCTGTGGGTTCCTTGGGA	0.373																																																	0													109.0	113.0	112.0					2																	64211004		2203	4300	6503	SO:0001583	missense	51542			AF102177	CCDS33208.1, CCDS46302.1	2p15-p14	2014-06-13	2006-12-19		ENSG00000143952	ENSG00000143952			18652	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 164"""	614633	"""vacuolar protein sorting 54 (yeast)"""			12039048	Standard	NM_016516		Approved	HCC8, PPP1R164	uc002scq.3	Q9P1Q0	OTTHUMG00000152627	ENST00000272322.4:c.130C>A	2.37:g.64211004G>T	ENSP00000272322:p.Pro44Thr	Somatic		WXS	Illumina HiSeq	Phase_IV	Q5VIR5|Q86YF7|Q8N6G3|Q9NPV0|Q9NT07|Q9NUJ0	Missense_Mutation	SNP	pfam_Vps54,pfam_Vacuolar_sorting-assoc_54	p.P44T	ENST00000272322.4	37	c.130	CCDS33208.1	2	.	.	.	.	.	.	.	.	.	.	G	25.3	4.623219	0.87460	.	.	ENSG00000143952	ENST00000272322;ENST00000409558;ENST00000483277;ENST00000394400	T;T	0.43688	0.94;1.19	5.86	5.86	0.93980	.	0.000000	0.85682	D	0.000000	T	0.51432	0.1674	N	0.14661	0.345	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.997;0.998	T	0.57213	-0.7850	10	0.62326	D	0.03	.	20.1823	0.98208	0.0:0.0:1.0:0.0	.	44;44	Q9P1Q0;Q9P1Q0-4	VPS54_HUMAN;.	T	44	ENSP00000272322:P44T;ENSP00000386980:P44T	ENSP00000272322:P44T	P	-	1	0	VPS54	64064508	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	8.399000	0.90197	2.771000	0.95319	0.650000	0.86243	CCC	VPS54	-	NULL		0.373	VPS54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VPS54	HGNC	protein_coding	OTTHUMT00000327062.2	G	NM_016516		64211004	-1	no_errors	ENST00000272322	ensembl	human	known	70_37	missense	SNP	1.000	T
VSTM1	284415	genome.wustl.edu	37	19	54544289	54544289	+	Missense_Mutation	SNP	C	C	T			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr19:54544289C>T	ENST00000338372.2	-	9	812	c.637G>A	c.(637-639)Gcc>Acc	p.A213T	VSTM1_ENST00000425006.2_3'UTR|VSTM1_ENST00000376626.1_Missense_Mutation_p.A182T|VSTM1_ENST00000366170.2_Missense_Mutation_p.A125T	NM_198481.3	NP_940883.2	Q6UX27	VSTM1_HUMAN	V-set and transmembrane domain containing 1	213					immune system process (GO:0002376)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)				breast(1)|large_intestine(3)|lung(11)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18	all_cancers(19;0.0128)|all_epithelial(19;0.00564)|all_lung(19;0.031)|Lung NSC(19;0.0358)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(134;0.165)		TCAGACAGGGCGCTGGTGCTT	0.517																																																	0													54.0	50.0	51.0					19																	54544289		2203	4300	6503	SO:0001583	missense	284415			AY358542	CCDS12872.1, CCDS74441.1, CCDS74442.1	19q13.42	2013-01-11			ENSG00000189068	ENSG00000189068		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	29455	protein-coding gene	gene with protein product						12975309	Standard	NM_198481		Approved	UNQ3033	uc002qcw.4	Q6UX27	OTTHUMG00000064906	ENST00000338372.2:c.637G>A	19.37:g.54544289C>T	ENSP00000343366:p.Ala213Thr	Somatic		WXS	Illumina HiSeq	Phase_IV	B6A8C6|D2DJS3|D2DJS4|Q496B6|Q496B7	Missense_Mutation	SNP	smart_Ig_sub,pfscan_Ig-like	p.A213T	ENST00000338372.2	37	c.637	CCDS12872.1	19	.	.	.	.	.	.	.	.	.	.	C	5.160	0.215136	0.09810	.	.	ENSG00000189068	ENST00000419106;ENST00000338372;ENST00000376626;ENST00000366170	T;T;T;T	0.53640	1.95;6.86;5.64;0.61	2.67	0.505	0.16953	.	.	.	.	.	T	0.18882	0.0453	N	0.17082	0.46	0.09310	N	1	P;P	0.42871	0.572;0.792	B;B	0.22880	0.042;0.023	T	0.11991	-1.0565	9	0.20046	T	0.44	.	4.9295	0.13910	0.0:0.7045:0.0:0.2955	.	182;213	D2DJS4;Q6UX27	.;VSTM1_HUMAN	T	103;213;182;125	ENSP00000409412:A103T;ENSP00000343366:A213T;ENSP00000365813:A182T;ENSP00000444153:A125T	ENSP00000343366:A213T	A	-	1	0	VSTM1	59236101	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.595000	0.05727	0.222000	0.20900	0.585000	0.79938	GCC	VSTM1	-	NULL		0.517	VSTM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VSTM1	HGNC	protein_coding	OTTHUMT00000139358.3	C	NM_198481		54544289	-1	no_errors	ENST00000338372	ensembl	human	known	70_37	missense	SNP	0.000	T
VWA5B1	127731	genome.wustl.edu	37	1	20669102	20669102	+	Splice_Site	SNP	G	G	T			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr1:20669102G>T	ENST00000375079.2	+	15	2507	c.2311G>T	c.(2311-2313)Gag>Tag	p.E771*	VWA5B1_ENST00000289815.8_Splice_Site_p.E771*|VWA5B1_ENST00000375083.4_Splice_Site_p.E771*|VWA5B1_ENST00000525343.1_3'UTR	NM_001039500.2	NP_001034589.2	Q5TIE3	VW5B1_HUMAN	von Willebrand factor A domain containing 5B1	771						extracellular region (GO:0005576)				central_nervous_system(1)|endometrium(3)|kidney(1)|prostate(1)|skin(1)	7						TGGAGATCTGGGTAAGTGACC	0.632																																																	0													28.0	31.0	30.0					1																	20669102		692	1591	2283	SO:0001630	splice_region_variant	127731			AK125833, AK057346		1p36.12	2014-02-12			ENSG00000158816	ENSG00000158816			26538	protein-coding gene	gene with protein product							Standard	NM_001039500		Approved	FLJ32784	uc009vps.2	Q5TIE3	OTTHUMG00000002835	ENST00000375079.2:c.2311+1G>T	1.37:g.20669102G>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A4IF35|A4IF36|Q3ZCM4|Q6ZUB4|Q96M71	Nonsense_Mutation	SNP	pfam_VWF_A,smart_VWF_A,pfscan_VWF_A	p.E771*	ENST00000375079.2	37	c.2311		1	.	.	.	.	.	.	.	.	.	.	g	39	7.318923	0.98210	.	.	ENSG00000158816	ENST00000375089;ENST00000289815;ENST00000375083;ENST00000375079	.	.	.	4.15	3.21	0.36854	.	1.495090	0.04804	U	0.434090	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.15952	T	0.53	-1.823	10.5165	0.44892	0.0:0.1982:0.8018:0.0	.	.	.	.	X	771	.	ENSP00000289815:E771X	E	+	1	0	VWA5B1	20541689	0.957000	0.32711	0.630000	0.29268	0.040000	0.13550	1.576000	0.36504	1.048000	0.40298	0.165000	0.16767	GAG	VWA5B1	-	NULL		0.632	VWA5B1-001	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	VWA5B1	HGNC	protein_coding	OTTHUMT00000007945.4	G	XM_001722222	Nonsense_Mutation	20669102	+1	no_errors	ENST00000375089	ensembl	human	known	70_37	nonsense	SNP	0.863	T
WASF1	8936	genome.wustl.edu	37	6	110423187	110423187	+	Nonsense_Mutation	SNP	G	G	A			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr6:110423187G>A	ENST00000392589.1	-	10	1962	c.1126C>T	c.(1126-1128)Cag>Tag	p.Q376*	WASF1_ENST00000392588.1_Nonsense_Mutation_p.Q376*|WASF1_ENST00000359451.2_Nonsense_Mutation_p.Q376*|WASF1_ENST00000392586.1_Nonsense_Mutation_p.Q376*|WASF1_ENST00000392587.2_Nonsense_Mutation_p.Q376*	NM_003931.2	NP_003922.1	Q92558	WASF1_HUMAN	WAS protein family, member 1	376					actin filament polymerization (GO:0030041)|cellular component movement (GO:0006928)|lamellipodium morphogenesis (GO:0072673)|positive regulation of Arp2/3 complex-mediated actin nucleation (GO:2000601)|protein complex assembly (GO:0006461)|Rac protein signal transduction (GO:0016601)	actin cytoskeleton (GO:0015629)|cell junction (GO:0030054)|cytoskeleton (GO:0005856)|lamellipodium (GO:0030027)|mitochondrial outer membrane (GO:0005741)|SCAR complex (GO:0031209)|synapse (GO:0045202)	protein complex binding (GO:0032403)			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	16		all_cancers(87;1.18e-05)|Acute lymphoblastic leukemia(125;2.66e-08)|all_hematologic(75;1.13e-06)|all_epithelial(87;0.00159)|Colorectal(196;0.0488)		OV - Ovarian serous cystadenocarcinoma(136;0.0364)|Epithelial(106;0.051)|all cancers(137;0.0687)		GGGGCAATCTGAAGAGGAGCT	0.572																																																	0													89.0	93.0	92.0					6																	110423187		2203	4300	6503	SO:0001587	stop_gained	8936			D87459	CCDS5080.1	6q21	2010-08-20			ENSG00000112290	ENSG00000112290		"""A-kinase anchor proteins"""	12732	protein-coding gene	gene with protein product		605035				9843499, 9889097	Standard	XM_005267204		Approved	WAVE1, SCAR1, KIAA0269, WAVE	uc003pty.1	Q92558	OTTHUMG00000015357	ENST00000392589.1:c.1126C>T	6.37:g.110423187G>A	ENSP00000376368:p.Gln376*	Somatic		WXS	Illumina HiSeq	Phase_IV	E1P5F2|Q5SZK7	Nonsense_Mutation	SNP	pfam_WH2_dom,smart_WH2_dom,pfscan_WH2_dom	p.Q376*	ENST00000392589.1	37	c.1126	CCDS5080.1	6	.	.	.	.	.	.	.	.	.	.	G	39	7.459409	0.98296	.	.	ENSG00000112290	ENST00000392586;ENST00000392587;ENST00000392589;ENST00000392588;ENST00000359451	.	.	.	5.55	4.69	0.59074	.	0.113052	0.64402	D	0.000007	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06099	T	0.92	.	14.4078	0.67093	0.0711:0.0:0.9289:0.0	.	.	.	.	X	376	.	ENSP00000352425:Q376X	Q	-	1	0	WASF1	110529880	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.141000	0.94612	1.352000	0.45808	0.650000	0.86243	CAG	WASF1	-	NULL		0.572	WASF1-203	KNOWN	basic|appris_principal|CCDS	protein_coding	WASF1	HGNC	protein_coding	OTTHUMT00000041784.3	G	NM_003931		110423187	-1	no_errors	ENST00000359451	ensembl	human	known	70_37	nonsense	SNP	1.000	A
WASH6P	653440	genome.wustl.edu	37	X	155252379	155252379	+	RNA	SNP	C	C	T			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chrX:155252379C>T	ENST00000461007.1	+	0	1387				AJ271736.10_ENST00000285718.7_RNA			Q9NQA3	WASH6_HUMAN	WAS protein family homolog 6 pseudogene						Arp2/3 complex-mediated actin nucleation (GO:0034314)|endosomal transport (GO:0016197)|retrograde transport, endosome to Golgi (GO:0042147)	early endosome (GO:0005769)|membrane (GO:0016020)|recycling endosome (GO:0055037)|WASH complex (GO:0071203)	alpha-tubulin binding (GO:0043014)										AGAAGTATGTCTTCCTGGACC	0.577																																																	0																																												653440			AI042587		Xq28 and Yq12	2014-08-28	2008-01-16	2008-01-16	ENSG00000182484	ENSG00000182484		"""Pseudoautosomal regions / PAR2"", ""WAS protein homologs"""	31685	pseudogene	pseudogene			"""family with sequence similarity 39, member A"", ""chromosomes X and Y open reading frame 1"""	FAM39A, CXYorf1		10655549, 12566406, 18159949	Standard	NG_008380		Approved			Q9NQA3	OTTHUMG00000022677		X.37:g.155252379C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A6NGF1|Q8N305	Silent	SNP	pfam_WASH_WASD	p.V200	ENST00000461007.1	37	c.600		X																																																																																			WASH6P	-	NULL		0.577	WASH6P-016	KNOWN	basic	processed_transcript	WASH6P	HGNC	pseudogene	OTTHUMT00000058840.1	C	NG_008380		155252379	+1	no_errors	ENST00000359512	ensembl	human	known	70_37	silent	SNP	1.000	T
WASL	8976	genome.wustl.edu	37	7	123332484	123332485	+	Frame_Shift_Ins	INS	-	-	T			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr7:123332484_123332485insT	ENST00000223023.4	-	9	1595_1596	c.1263_1264insA	c.(1261-1266)aaagtgfs	p.V422fs		NM_003941.2	NP_003932.3	O00401	WASL_HUMAN	Wiskott-Aldrich syndrome-like	422	WH2 1. {ECO:0000255|PROSITE- ProRule:PRU00406}.				actin polymerization or depolymerization (GO:0008154)|axon guidance (GO:0007411)|cellular component movement (GO:0006928)|cellular protein complex localization (GO:0034629)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|membrane budding (GO:0006900)|mitotic nuclear division (GO:0007067)|nitric oxide metabolic process (GO:0046209)|positive regulation of clathrin-mediated endocytosis (GO:2000370)|positive regulation of filopodium assembly (GO:0051491)|protein complex assembly (GO:0006461)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of protein localization (GO:0032880)|regulation of transcription, DNA-templated (GO:0006355)|response to bacterium (GO:0009617)|small molecule metabolic process (GO:0044281)|spindle localization (GO:0051653)|transcription, DNA-templated (GO:0006351)|vesicle organization (GO:0016050)|vesicle transport along actin filament (GO:0030050)	actin cap (GO:0030478)|actin cytoskeleton (GO:0015629)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	small GTPase regulator activity (GO:0005083)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						TTCTGCTCCACTTTTTTTAGCT	0.47																																																	0																																										SO:0001589	frameshift_variant	8976			D88460	CCDS34743.1	7q31.3	2008-02-01			ENSG00000106299	ENSG00000106299			12735	protein-coding gene	gene with protein product		605056				9422512, 9322739	Standard	NM_003941		Approved	N-WASP, NWASP	uc003vkz.3	O00401	OTTHUMG00000157346	ENST00000223023.4:c.1264dupA	7.37:g.123332491_123332491dupT	ENSP00000223023:p.Val422fs	Somatic		WXS	Illumina HiSeq	Phase_IV	A1JUI9|Q7Z746	Frame_Shift_Ins	INS	pfam_EVH1,pfam_PAK_box_Rho-bd,pfam_WH2_dom,superfamily_WASP_C,smart_EVH1,smart_PAK_box_Rho-bd,smart_WH2_dom,pfscan_PAK_box_Rho-bd,pfscan_EVH1,pfscan_WH2_dom	p.V421fs	ENST00000223023.4	37	c.1264_1263	CCDS34743.1	7																																																																																			WASL	-	pfam_WH2_dom,superfamily_WASP_C,smart_WH2_dom,pfscan_WH2_dom		0.470	WASL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WASL	HGNC	protein_coding	OTTHUMT00000348522.1	-	NM_003941		123332485	-1	no_errors	ENST00000223023	ensembl	human	known	70_37	frame_shift_ins	INS	1.000:1.000	T
WDFY2	115825	genome.wustl.edu	37	13	52158943	52158943	+	Silent	SNP	C	C	T			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr13:52158943C>T	ENST00000298125.5	+	1	300	c.120C>T	c.(118-120)atC>atT	p.I40I	RNY1P6_ENST00000384193.1_RNA	NM_052950.3	NP_443182.1	Q96P53	WDFY2_HUMAN	WD repeat and FYVE domain containing 2	40							metal ion binding (GO:0046872)			breast(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(4)|skin(2)|upper_aerodigestive_tract(1)	16		Breast(56;0.000208)|Lung NSC(96;0.000517)|Prostate(109;0.0041)|Hepatocellular(98;0.0652)|Myeloproliferative disorder(33;0.164)|all_neural(104;0.191)		GBM - Glioblastoma multiforme(99;9e-08)		AGGGCGTCATCAGCGTCTCCG	0.672											OREG0022422	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													95.0	89.0	91.0					13																	52158943		2203	4300	6503	SO:0001819	synonymous_variant	115825			AF411978	CCDS9429.1	13q14.12	2013-01-09	2003-03-13		ENSG00000139668	ENSG00000139668		"""Zinc fingers, FYVE domain containing"", ""WD repeat domain containing"""	20482	protein-coding gene	gene with protein product		610418	"""WD40 and FYVE domain containing 2"""				Standard	NM_052950		Approved	ZFYVE22	uc001vfp.3	Q96P53	OTTHUMG00000017407	ENST00000298125.5:c.120C>T	13.37:g.52158943C>T		Somatic	982	WXS	Illumina HiSeq	Phase_IV	B1AL86|Q96CS1	Silent	SNP	pfam_WD40_repeat,pfam_Znf_FYVE,superfamily_WD40_repeat_dom,superfamily_Znf_FYVE_PHD,smart_WD40_repeat,smart_Znf_FYVE,pfscan_Znf_FYVE-rel,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.I40	ENST00000298125.5	37	c.120	CCDS9429.1	13																																																																																			WDFY2	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep		0.672	WDFY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDFY2	HGNC	protein_coding	OTTHUMT00000045985.3	C	NM_052950		52158943	+1	no_errors	ENST00000298125	ensembl	human	known	70_37	silent	SNP	1.000	T
WDFY3	23001	genome.wustl.edu	37	4	85710969	85710969	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr4:85710969C>T	ENST00000295888.4	-	22	3986	c.3579G>A	c.(3577-3579)tgG>tgA	p.W1193*	WDFY3_ENST00000322366.6_Nonsense_Mutation_p.W1193*	NM_014991.4	NP_055806.2	Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	1193					aggrephagy (GO:0035973)|positive regulation of macroautophagy (GO:0016239)	autophagic vacuole (GO:0005776)|cytoplasm (GO:0005737)|extrinsic component of membrane (GO:0019898)|inclusion body (GO:0016234)|nuclear envelope (GO:0005635)|PML body (GO:0016605)	1-phosphatidylinositol binding (GO:0005545)|beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity (GO:0003831)|metal ion binding (GO:0046872)			breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		CCAAATGATGCCACTGTCCCT	0.398																																																	0													138.0	130.0	133.0					4																	85710969		2203	4300	6503	SO:0001587	stop_gained	23001			AB023210	CCDS3609.1	4q21.3	2013-01-09			ENSG00000163625	ENSG00000163625		"""Zinc fingers, FYVE domain containing"", ""WD repeat domain containing"""	20751	protein-coding gene	gene with protein product						10231032	Standard	NM_014991		Approved	KIAA0993, ALFY, ZFYVE25	uc003hpd.3	Q8IZQ1	OTTHUMG00000130424	ENST00000295888.4:c.3579G>A	4.37:g.85710969C>T	ENSP00000295888:p.Trp1193*	Somatic		WXS	Illumina HiSeq	Phase_IV	Q4W5K5|Q6P0Q5|Q8N1T2|Q8NAV6|Q96BS7|Q96D33|Q96N85|Q9Y2J7	Nonsense_Mutation	SNP	pfam_BEACH_dom,pfam_Znf_FYVE,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_Znf_FYVE_PHD,superfamily_ConA-like_lec_gl_sf,superfamily_Cyclin-like,superfamily_ARM-type_fold,smart_WD40_repeat,smart_Znf_FYVE,pfscan_BEACH_dom,pfscan_Znf_FYVE-rel,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.W1193*	ENST00000295888.4	37	c.3579	CCDS3609.1	4	.	.	.	.	.	.	.	.	.	.	C	46	12.279166	0.99653	.	.	ENSG00000163625	ENST00000322366;ENST00000295888	.	.	.	4.57	4.57	0.56435	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	17.7404	0.88405	0.0:1.0:0.0:0.0	.	.	.	.	X	1193	.	ENSP00000295888:W1193X	W	-	3	0	WDFY3	85929993	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.772000	0.85439	2.223000	0.72356	0.561000	0.74099	TGG	WDFY3	-	superfamily_ConA-like_lec_gl_sf		0.398	WDFY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDFY3	HGNC	protein_coding	OTTHUMT00000252811.2	C	NM_014991		85710969	-1	no_errors	ENST00000295888	ensembl	human	known	70_37	nonsense	SNP	1.000	T
WDFY4	57705	genome.wustl.edu	37	10	50174698	50174698	+	Missense_Mutation	SNP	C	C	T			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr10:50174698C>T	ENST00000325239.5	+	54	8591	c.8564C>T	c.(8563-8565)cCc>cTc	p.P2855L	WDFY4_ENST00000413659.2_3'UTR|WDFY4_ENST00000465910.1_3'UTR	NM_020945.1	NP_065996.1	Q6ZS81	WDFY4_HUMAN	WDFY family member 4	2855						integral component of membrane (GO:0016021)				NS(2)|breast(5)|central_nervous_system(4)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|lung(3)|pancreas(2)|prostate(5)|skin(6)|stomach(1)	48						TCGCTGAGGCCCTCCCAGGTC	0.612																																																	0													50.0	52.0	52.0					10																	50174698		692	1591	2283	SO:0001583	missense	57705			AK074085	CCDS44385.1	10q11.23	2013-01-10			ENSG00000128815	ENSG00000128815		"""WD repeat domain containing"""	29323	protein-coding gene	gene with protein product		613316	"""chromosome 10 open reading frame 64"""	C10orf64		10997877	Standard	NM_020945		Approved	KIAA1607, Em:AC060234.3, FLJ45748	uc001jha.4	Q6ZS81	OTTHUMG00000018180	ENST00000325239.5:c.8564C>T	10.37:g.50174698C>T	ENSP00000320563:p.Pro2855Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	B9ZVP2|Q86WZ4|Q8N4A3|Q8TEN7|Q96BE1|Q9H7H8|Q9HCG5	Missense_Mutation	SNP	pfam_BEACH_dom,pfam_WD40_repeat,superfamily_BEACH_dom,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,smart_WD40_repeat,pfscan_BEACH_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.P2855L	ENST00000325239.5	37	c.8564	CCDS44385.1	10	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.37|16.37	3.103500|3.103500	0.56291|0.56291	.|.	.|.	ENSG00000128815|ENSG00000128815	ENST00000426033;ENST00000325239;ENST00000544136|ENST00000265453	T|T	0.36157|0.34072	1.27|1.38	5.64|5.64	5.64|5.64	0.86602|0.86602	.|.	0.215910|0.215910	0.40469|0.40469	N|N	0.001095|0.001095	T|T	0.42200|0.42200	0.1192|0.1192	L|L	0.51422|0.51422	1.61|1.61	0.80722|0.80722	D|D	1|1	B;B|.	0.20368|.	0.021;0.044|.	B;B|.	0.17098|.	0.011;0.017|.	T|T	0.16100|0.16100	-1.0414|-1.0414	9|7	.|.	.|.	.|.	.|.	10.019|10.019	0.42031|0.42031	0.0:0.9044:0.0:0.0956|0.0:0.9044:0.0:0.0956	.|.	318;2855|.	B4DWY9;Q6ZS81|.	.;WDFY4_HUMAN|.	L|S	2855;2855;318|942	ENSP00000320563:P2855L|ENSP00000265453:P942S	.|.	P|P	+|+	2|1	0|0	WDFY4|WDFY4	49844704|49844704	0.989000|0.989000	0.36119|0.36119	0.993000|0.993000	0.49108|0.49108	0.814000|0.814000	0.46013|0.46013	4.304000|4.304000	0.59104|0.59104	2.644000|2.644000	0.89710|0.89710	0.650000|0.650000	0.86243|0.86243	CCC|CCT	WDFY4	-	NULL		0.612	WDFY4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	WDFY4	HGNC	protein_coding		C	XM_033379		50174698	+1	no_errors	ENST00000325239	ensembl	human	known	70_37	missense	SNP	1.000	T
WDR27	253769	genome.wustl.edu	37	6	170065626	170065626	+	Missense_Mutation	SNP	C	C	T			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr6:170065626C>T	ENST00000448612.1	-	7	848	c.739G>A	c.(739-741)Gat>Aat	p.D247N	WDR27_ENST00000333572.6_Missense_Mutation_p.D247N|WDR27_ENST00000423258.1_Missense_Mutation_p.D120N|WDR27_ENST00000420344.2_Silent_p.L161L|WDR27_ENST00000546525.1_5'UTR	NM_182552.4	NP_872358.4	A2RRH5	WDR27_HUMAN	WD repeat domain 27	217						nucleus (GO:0005634)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(5)|pancreas(1)|skin(1)	12		Breast(66;1.53e-05)|Ovarian(120;0.216)		OV - Ovarian serous cystadenocarcinoma(33;6.48e-20)|BRCA - Breast invasive adenocarcinoma(81;3.56e-07)|GBM - Glioblastoma multiforme(31;0.00168)		CTTTCTGCATCAATGAATAAA	0.478																																																	0													76.0	77.0	77.0					6																	170065626		1952	4145	6097	SO:0001583	missense	253769			AK131435	CCDS47520.1, CCDS47520.2, CCDS56459.1	6q27	2013-01-09	2003-06-18		ENSG00000184465	ENSG00000184465		"""WD repeat domain containing"""	21248	protein-coding gene	gene with protein product							Standard	NM_182552		Approved	MGC43690	uc003qwx.3	A2RRH5	OTTHUMG00000016061	ENST00000448612.1:c.739G>A	6.37:g.170065626C>T	ENSP00000416289:p.Asp247Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	A5PLM8|C9JGV0|Q5T066	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.D247N	ENST00000448612.1	37	c.739	CCDS47520.2	6	.	.	.	.	.	.	.	.	.	.	C	11.18	1.562744	0.27915	.	.	ENSG00000184465	ENST00000448612;ENST00000333572;ENST00000423258	T;T;D	0.95756	1.02;0.98;-3.8	5.18	-0.114	0.13564	.	0.471757	0.21260	N	0.077491	T	0.79930	0.4531	N	0.25426	0.745	0.23210	N	0.998119	B;B;B	0.32653	0.06;0.222;0.379	B;B;B	0.30105	0.031;0.046;0.111	T	0.73786	-0.3873	10	0.22109	T	0.4	-5.1536	8.1356	0.31052	0.0:0.4125:0.4344:0.1531	.	247;120;247	F2Z2U5;A2RRH5-2;C9JGV0	.;.;.	N	247;247;120	ENSP00000416289:D247N;ENSP00000330265:D247N;ENSP00000397869:D120N	ENSP00000330265:D247N	D	-	1	0	WDR27	169807551	0.004000	0.15560	0.000000	0.03702	0.017000	0.09413	0.021000	0.13489	-0.382000	0.07870	0.555000	0.69702	GAT	WDR27	-	superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom		0.478	WDR27-010	KNOWN	basic|CCDS	protein_coding	WDR27	HGNC	protein_coding	OTTHUMT00000407334.1	C	NM_182552		170065626	-1	no_errors	ENST00000448612	ensembl	human	known	70_37	missense	SNP	0.006	T
WDR3	10885	genome.wustl.edu	37	1	118491107	118491107	+	Missense_Mutation	SNP	C	C	T			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr1:118491107C>T	ENST00000349139.5	+	13	1549	c.1502C>T	c.(1501-1503)tCc>tTc	p.S501F		NM_006784.2	NP_006775.1	Q9UNX4	WDR3_HUMAN	WD repeat domain 3	501						nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(9)|liver(2)|lung(22)|prostate(2)|upper_aerodigestive_tract(1)	49	Esophageal squamous(2;0.162)	all_cancers(81;2.72e-05)|Acute lymphoblastic leukemia(138;1e-08)|all_epithelial(167;4.4e-07)|all_lung(203;1.7e-06)|Lung NSC(69;1.98e-05)|Prostate(1639;0.00955)|Breast(1374;0.244)		OV - Ovarian serous cystadenocarcinoma(397;1.39e-08)|Epithelial(280;1.82e-07)|all cancers(265;2.04e-05)|Lung(183;0.0525)|BRCA - Breast invasive adenocarcinoma(282;0.0695)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.185)		GCTTTGTGGTCCATGTCCCTC	0.468																																																	0													114.0	107.0	109.0					1																	118491107		2203	4300	6503	SO:0001583	missense	10885			AF083217	CCDS898.1	1p12	2013-01-09			ENSG00000065183	ENSG00000065183		"""WD repeat domain containing"""	12755	protein-coding gene	gene with protein product		604737				10395803	Standard	NM_006784		Approved	FLJ12796, UTP12, DIP2	uc010oxe.1	Q9UNX4	OTTHUMG00000012197	ENST00000349139.5:c.1502C>T	1.37:g.118491107C>T	ENSP00000308179:p.Ser501Phe	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_WD40_repeat,pfam_SSU_processome_Utp12,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.S501F	ENST00000349139.5	37	c.1502	CCDS898.1	1	.	.	.	.	.	.	.	.	.	.	C	29.1	4.976423	0.92982	.	.	ENSG00000065183	ENST00000349139	T	0.65916	-0.18	5.57	5.57	0.84162	WD40/YVTN repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.094992	0.85682	D	0.000000	T	0.80964	0.4725	M	0.88105	2.93	0.80722	D	1	D	0.76494	0.999	D	0.72075	0.976	D	0.84135	0.0414	10	0.87932	D	0	-12.2613	19.5546	0.95338	0.0:1.0:0.0:0.0	.	501	Q9UNX4	WDR3_HUMAN	F	501	ENSP00000308179:S501F	ENSP00000308179:S501F	S	+	2	0	WDR3	118292630	1.000000	0.71417	1.000000	0.80357	0.905000	0.53344	7.752000	0.85141	2.622000	0.88805	0.655000	0.94253	TCC	WDR3	-	pfam_WD40_repeat,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom		0.468	WDR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR3	HGNC	protein_coding	OTTHUMT00000033720.2	C	NM_006784		118491107	+1	no_errors	ENST00000349139	ensembl	human	known	70_37	missense	SNP	1.000	T
WDR33	55339	genome.wustl.edu	37	2	128479457	128479457	+	Missense_Mutation	SNP	C	C	G			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr2:128479457C>G	ENST00000322313.4	-	15	1782	c.1624G>C	c.(1624-1626)Gag>Cag	p.E542Q		NM_018383.4	NP_060853.3	Q9C0J8	WDR33_HUMAN	WD repeat domain 33	542					mRNA processing (GO:0006397)|postreplication repair (GO:0006301)|spermatogenesis (GO:0007283)	collagen trimer (GO:0005581)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			NS(1)|breast(3)|endometrium(2)|kidney(2)|large_intestine(9)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	39	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0695)		ATTTCTTGCTCAATTTCTGCT	0.393																																																	0													257.0	230.0	239.0					2																	128479457		2203	4300	6503	SO:0001583	missense	55339				CCDS2150.1, CCDS42746.1, CCDS46407.1	2q21.1	2013-01-09			ENSG00000136709	ENSG00000136709		"""WD repeat domain containing"""	25651	protein-coding gene	gene with protein product						11162572	Standard	NM_001006622		Approved	FLJ11294, WDC146, NET14	uc002tpg.2	Q9C0J8	OTTHUMG00000131534	ENST00000322313.4:c.1624G>C	2.37:g.128479457C>G	ENSP00000325377:p.Glu542Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	Q05DP8|Q53FG9|Q587J1|Q69YF7|Q6NUQ0|Q9NUL1	Missense_Mutation	SNP	pfam_WD40_repeat,pfam_Collagen,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.E542Q	ENST00000322313.4	37	c.1624	CCDS2150.1	2	.	.	.	.	.	.	.	.	.	.	C	20.9	4.073327	0.76415	.	.	ENSG00000136709	ENST00000322313	T	0.17370	2.28	5.71	5.71	0.89125	.	0.000000	0.85682	D	0.000000	T	0.33323	0.0859	L	0.34521	1.04	0.80722	D	1	D	0.63880	0.993	D	0.72982	0.979	T	0.00964	-1.1498	10	0.37606	T	0.19	-15.5112	19.8636	0.96797	0.0:1.0:0.0:0.0	.	542	Q9C0J8	WDR33_HUMAN	Q	542	ENSP00000325377:E542Q	ENSP00000325377:E542Q	E	-	1	0	WDR33	128195927	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.001000	0.76297	2.694000	0.91930	0.655000	0.94253	GAG	WDR33	-	NULL		0.393	WDR33-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR33	HGNC	protein_coding	OTTHUMT00000331141.2	C	NM_018383		128479457	-1	no_errors	ENST00000322313	ensembl	human	known	70_37	missense	SNP	1.000	G
WDR38	401551	genome.wustl.edu	37	9	127619875	127619875	+	Missense_Mutation	SNP	G	G	A	rs368166491		TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr9:127619875G>A	ENST00000373574.1	+	9	967	c.911G>A	c.(910-912)cGc>cAc	p.R304H		NM_001045476.1|NM_001276374.1	NP_001038941.1|NP_001263303.1	Q5JTN6	WDR38_HUMAN	WD repeat domain 38	304					hematopoietic progenitor cell differentiation (GO:0002244)					breast(1)|large_intestine(1)|lung(4)|prostate(1)|skin(1)	8						CAAATATCCCGCACGTCCAAA	0.577																																																	0								G	HIS/ARG	0,4204		0,0,2102	66.0	75.0	72.0		911	0.5	0.0	9		72	2,8430		0,2,4214	no	missense	WDR38	NM_001045476.1	29	0,2,6316	AA,AG,GG		0.0237,0.0,0.0158	possibly-damaging	304/315	127619875	2,12634	2102	4216	6318	SO:0001583	missense	401551				CCDS43876.1, CCDS75898.1, CCDS75899.1	9q33.3	2013-01-09			ENSG00000136918	ENSG00000136918		"""WD repeat domain containing"""	23745	protein-coding gene	gene with protein product							Standard	NM_001276375		Approved		uc011lzo.3	Q5JTN6	OTTHUMG00000020664	ENST00000373574.1:c.911G>A	9.37:g.127619875G>A	ENSP00000362677:p.Arg304His	Somatic		WXS	Illumina HiSeq	Phase_IV	A0PK24	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.R304H	ENST00000373574.1	37	c.911	CCDS43876.1	9	.	.	.	.	.	.	.	.	.	.	G	8.723	0.914839	0.17907	0.0	2.37E-4	ENSG00000136918	ENST00000373574	T	0.54479	0.57	4.45	0.485	0.16830	WD40/YVTN repeat-like-containing domain (1);WD40-repeat-containing domain (1);	1.789640	0.03135	N	0.165779	T	0.46034	0.1372	L	0.49571	1.57	0.09310	N	1	B;B;B;B	0.06786	0.001;0.0;0.001;0.001	B;B;B;B	0.01281	0.0;0.0;0.0;0.0	T	0.17319	-1.0373	10	0.39692	T	0.17	.	4.4523	0.11626	0.2822:0.1629:0.5549:0.0	.	304;305;294;304	B9EK65;B7ZW23;B7ZW24;Q5JTN6	.;.;.;WDR38_HUMAN	H	304	ENSP00000362677:R304H	ENSP00000362677:R304H	R	+	2	0	WDR38	126659696	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.499000	0.22546	0.002000	0.14630	-0.812000	0.03155	CGC	WDR38	-	pfscan_WD40_repeat_dom		0.577	WDR38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR38	HGNC	protein_coding	OTTHUMT00000054048.1	G	NM_001045476		127619875	+1	no_errors	ENST00000373574	ensembl	human	known	70_37	missense	SNP	0.000	A
WDR64	128025	genome.wustl.edu	37	1	241846798	241846798	+	Missense_Mutation	SNP	T	T	G			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr1:241846798T>G	ENST00000366552.2	+	6	811	c.604T>G	c.(604-606)Ttt>Gtt	p.F202V	WDR64_ENST00000461971.1_3'UTR|WDR64_ENST00000437684.2_Missense_Mutation_p.F202V	NM_144625.4	NP_653226.4	B1ANS9	WDR64_HUMAN	WD repeat domain 64	202										breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(17)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44	Ovarian(103;0.103)	all_cancers(173;0.0121)	OV - Ovarian serous cystadenocarcinoma(106;0.0116)			GGAAAATTATTTTGTCATAAA	0.393																																																	0													21.0	20.0	20.0					1																	241846798		692	1591	2283	SO:0001583	missense	128025			AK057540		1q43	2013-01-09			ENSG00000162843	ENSG00000162843		"""WD repeat domain containing"""	26570	protein-coding gene	gene with protein product							Standard	NM_144625		Approved	FLJ32978	uc001hzg.2	B1ANS9	OTTHUMG00000039705	ENST00000366552.2:c.604T>G	1.37:g.241846798T>G	ENSP00000355510:p.Phe202Val	Somatic		WXS	Illumina HiSeq	Phase_IV	B1ANT0|Q7Z573|Q96LY9	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.F202V	ENST00000366552.2	37	c.604		1	.	.	.	.	.	.	.	.	.	.	T	12.66	2.003169	0.35320	.	.	ENSG00000162843	ENST00000366552;ENST00000437684	T;T	0.38722	1.59;1.12	5.38	5.38	0.77491	.	0.216179	0.32655	N	0.005806	T	0.50205	0.1602	L	0.50333	1.59	0.37005	D	0.895452	.	.	.	.	.	.	T	0.56360	-0.7992	8	0.42905	T	0.14	-13.233	13.9145	0.63887	0.0:0.0:0.0:1.0	.	.	.	.	V	202	ENSP00000355510:F202V;ENSP00000402446:F202V	ENSP00000355510:F202V	F	+	1	0	WDR64	239913421	1.000000	0.71417	0.525000	0.27900	0.109000	0.19521	4.935000	0.63498	2.163000	0.67991	0.402000	0.26972	TTT	WDR64	-	superfamily_WD40_repeat_dom		0.393	WDR64-201	KNOWN	basic|appris_principal	protein_coding	WDR64	HGNC	protein_coding		T	NM_144625		241846798	+1	no_errors	ENST00000366552	ensembl	human	known	70_37	missense	SNP	0.960	G
WDR66	144406	genome.wustl.edu	37	12	122437841	122437841	+	Missense_Mutation	SNP	G	G	A			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr12:122437841G>A	ENST00000288912.4	+	20	4080	c.3226G>A	c.(3226-3228)Gtt>Att	p.V1076I		NM_144668.5	NP_653269.3	Q8TBY9	WDR66_HUMAN	WD repeat domain 66	1076							calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(13)|ovary(2)|prostate(2)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	all_neural(191;0.0496)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000155)|Epithelial(86;0.000634)|BRCA - Breast invasive adenocarcinoma(302;0.248)		GAGACTGCTCGTTACTAAAGG	0.507																																					Esophageal Squamous(85;849 1794 49757 52143)												0													85.0	80.0	82.0					12																	122437841		1903	4130	6033	SO:0001583	missense	144406			AL833930	CCDS41853.1, CCDS53840.1	12q24.31	2014-07-31			ENSG00000158023	ENSG00000158023		"""WD repeat domain containing"""	28506	protein-coding gene	gene with protein product						17967944	Standard	NM_001178003		Approved	MGC33630, CaM-IP4	uc009zxk.3	Q8TBY9	OTTHUMG00000168948	ENST00000288912.4:c.3226G>A	12.37:g.122437841G>A	ENSP00000288912:p.Val1076Ile	Somatic		WXS	Illumina HiSeq	Phase_IV	C9J1W2|Q8IYA3|Q8N898|Q8NDE7	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom	p.V1076I	ENST00000288912.4	37	c.3226	CCDS41853.1	12	.	.	.	.	.	.	.	.	.	.	G	8.026	0.760778	0.15914	.	.	ENSG00000158023	ENST00000288912	T	0.79554	-1.28	5.31	1.38	0.22167	.	0.416724	0.23162	N	0.051226	T	0.57373	0.2049	N	0.08118	0	0.09310	N	0.999999	B	0.17268	0.021	B	0.04013	0.001	T	0.44298	-0.9337	10	0.36615	T	0.2	.	5.7473	0.18128	0.1293:0.529:0.2686:0.0731	.	1076	Q8TBY9	WDR66_HUMAN	I	1076	ENSP00000288912:V1076I	ENSP00000288912:V1076I	V	+	1	0	WDR66	120922224	0.004000	0.15560	0.000000	0.03702	0.650000	0.38633	1.436000	0.34980	-0.012000	0.14223	-0.165000	0.13383	GTT	WDR66	-	NULL		0.507	WDR66-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR66	HGNC	protein_coding	OTTHUMT00000401700.1	G	NM_144668		122437841	+1	no_errors	ENST00000288912	ensembl	human	known	70_37	missense	SNP	0.032	A
WDR83OS	51398	genome.wustl.edu	37	19	12780007	12780007	+	Missense_Mutation	SNP	C	C	T			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr19:12780007C>T	ENST00000596731.1	-	2	2043	c.91G>A	c.(91-93)Gac>Aac	p.D31N	WDR83_ENST00000242796.4_5'Flank|WDR83_ENST00000418543.3_Intron|WDR83OS_ENST00000222190.5_Missense_Mutation_p.D31N|MAN2B1_ENST00000456935.2_5'Flank|MAN2B1_ENST00000221363.4_5'Flank|CTD-2192J16.24_ENST00000597961.1_Missense_Mutation_p.D29N|WDR83OS_ENST00000600694.1_5'Flank	NM_016145.3	NP_057229.1	Q9Y284	ASTER_HUMAN	WD repeat domain 83 opposite strand	31						integral component of membrane (GO:0016021)											GGCGTCGGGTCGTCCAAGGCC	0.627																																																	0													65.0	63.0	63.0					19																	12780007		2203	4300	6503	SO:0001583	missense	51398			AF151898	CCDS12274.1	19p13.2	2011-11-24	2011-11-24	2011-11-24	ENSG00000105583	ENSG00000105583			30203	protein-coding gene	gene with protein product			"""chromosome 19 open reading frame 56"""	C19orf56		10810093	Standard	NM_016145		Approved	PTD008	uc002mud.2	Q9Y284		ENST00000596731.1:c.91G>A	19.37:g.12780007C>T	ENSP00000468969:p.Asp31Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	B2R4T8|Q9BVI3	Missense_Mutation	SNP	pfam_UPF0139	p.D31N	ENST00000596731.1	37	c.91	CCDS12274.1	19	.	.	.	.	.	.	.	.	.	.	C	36	5.607740	0.96626	.	.	ENSG00000105583	ENST00000222190	T	0.62639	0.01	5.86	4.82	0.62117	.	0.000000	0.85682	D	0.000000	T	0.70448	0.3225	M	0.85859	2.78	0.80722	D	1	P	0.45569	0.861	P	0.45037	0.467	T	0.76870	-0.2799	10	0.72032	D	0.01	-16.5267	14.1155	0.65151	0.0:0.9267:0.0:0.0733	.	31	Q9Y284	CS056_HUMAN	N	31	ENSP00000222190:D31N	ENSP00000222190:D31N	D	-	1	0	C19orf56	12641007	1.000000	0.71417	0.998000	0.56505	0.998000	0.95712	7.158000	0.77470	1.484000	0.48361	0.655000	0.94253	GAC	WDR83OS	-	pfam_UPF0139		0.627	WDR83OS-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	WDR83OS	HGNC	protein_coding	OTTHUMT00000462702.1	C	NM_016145		12780007	-1	no_errors	ENST00000596731	ensembl	human	known	70_37	missense	SNP	1.000	T
WDR87	83889	genome.wustl.edu	37	19	38383943	38383943	+	Silent	SNP	G	G	A			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr19:38383943G>A	ENST00000303868.5	-	4	2507	c.2283C>T	c.(2281-2283)ctC>ctT	p.L761L	WDR87_ENST00000447313.2_Silent_p.L800L	NM_031951.3	NP_114157.3	Q6ZQQ6	WDR87_HUMAN	WD repeat domain 87	761										NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(2)|prostate(1)|skin(3)|stomach(1)	36						GATAGGGGTTGAGTCCATCCC	0.483																																																	0													109.0	94.0	98.0					19																	38383943		692	1591	2283	SO:0001819	synonymous_variant	83889			AK128826	CCDS46063.1, CCDS74356.1	19q13.13	2013-01-09			ENSG00000171804	ENSG00000171804		"""WD repeat domain containing"""	29934	protein-coding gene	gene with protein product							Standard	XM_005259304		Approved	NYD-SP11	uc010efu.2	Q6ZQQ6	OTTHUMG00000048187	ENST00000303868.5:c.2283C>T	19.37:g.38383943G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q9BWV9	Silent	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,superfamily_ARM-type_fold,superfamily_Quinolinate_PRibosylTrfase_C,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.L800	ENST00000303868.5	37	c.2400	CCDS46063.1	19																																																																																			WDR87	-	NULL		0.483	WDR87-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	WDR87	HGNC	protein_coding	OTTHUMT00000314628.2	G	XM_940478		38383943	-1	no_errors	ENST00000447313	ensembl	human	known	70_37	silent	SNP	0.941	A
WDR90	197335	genome.wustl.edu	37	16	712707	712707	+	Silent	SNP	C	C	T			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr16:712707C>T	ENST00000293879.4	+	34	4174	c.4174C>T	c.(4174-4176)Ctg>Ttg	p.L1392L	WDR90_ENST00000549091.1_Silent_p.L1394L|WDR90_ENST00000315764.4_5'Flank|WDR90_ENST00000547944.1_5'Flank			Q96KV7	WDR90_HUMAN	WD repeat domain 90	1392										endometrium(4)|kidney(3)|large_intestine(2)|lung(22)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	37		Hepatocellular(780;0.0218)				CGAGCTGGTGCTGGACGGGGC	0.632																																																	0													68.0	72.0	70.0					16																	712707		2137	4245	6382	SO:0001819	synonymous_variant	197335			AB067511	CCDS42092.1	16p13.3	2013-01-09			ENSG00000161996	ENSG00000161996		"""WD repeat domain containing"""	26960	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 17"", ""chromosome 16 open reading frame 15"", ""chromosome 16 open reading frame 16"", ""chromosome 16 open reading frame 19"", ""chromosome 16 open reading frame 18"""	C16orf17, C16orf15, C16orf16, C16orf19, C16orf18		11572484, 11157797	Standard	XM_005255160		Approved	FLJ36483, KIAA1924	uc002cii.1	Q96KV7	OTTHUMG00000048040	ENST00000293879.4:c.4174C>T	16.37:g.712707C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q0VA87|Q0VA88|Q6P048|Q6ZMS1|Q6ZTH1|Q8N202|Q8N221|Q8NBB8|Q96PW4|Q96S18	Silent	SNP	pfam_WD40_repeat,pfam_DUF667,pfam_Nucleoporin_Nup160,superfamily_Quinonprotein_ADH-like,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.L1394	ENST00000293879.4	37	c.4180	CCDS42092.1	16																																																																																			WDR90	-	superfamily_Quinonprotein_ADH-like,pfscan_WD40_repeat_dom		0.632	WDR90-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	WDR90	HGNC	protein_coding	OTTHUMT00000404335.1	C	NM_145294		712707	+1	no_errors	ENST00000549091	ensembl	human	novel	70_37	silent	SNP	0.994	T
WDTC1	23038	genome.wustl.edu	37	1	27621108	27621108	+	Frame_Shift_Del	DEL	G	G	-	rs145339479		TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr1:27621108delG	ENST00000319394.3	+	9	1396	c.861delG	c.(859-861)atgfs	p.M287fs	WDTC1_ENST00000361771.3_Frame_Shift_Del_p.M287fs	NM_001276252.1|NM_015023.3	NP_001263181.1|NP_055838.2	Q8N5D0	WDTC1_HUMAN	WD and tetratricopeptide repeats 1	287					cellular chemical homeostasis (GO:0055082)|cellular response to insulin stimulus (GO:0032869)|glucose metabolic process (GO:0006006)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|negative regulation of fatty acid biosynthetic process (GO:0045717)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|protein ubiquitination (GO:0016567)|regulation of cell size (GO:0008361)	cytosol (GO:0005829)|nucleus (GO:0005634)	enzyme inhibitor activity (GO:0004857)			central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(5)|ovary(1)|skin(1)	21		all_cancers(24;3.12e-19)|all_epithelial(13;4.18e-18)|Colorectal(325;0.000147)|all_lung(284;0.000366)|Lung NSC(340;0.000548)|Renal(390;0.00211)|Breast(348;0.00257)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.0707)|all_neural(195;0.0966)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0443)|OV - Ovarian serous cystadenocarcinoma(117;1.09e-27)|Colorectal(126;8.83e-09)|COAD - Colon adenocarcinoma(152;1.02e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000544)|KIRC - Kidney renal clear cell carcinoma(1967;0.00201)|STAD - Stomach adenocarcinoma(196;0.00321)|READ - Rectum adenocarcinoma(331;0.0476)		TAGTCAACATGGGGGGGGAAC	0.537																																																	0													75.0	64.0	68.0					1																	27621108		2203	4300	6503	SO:0001589	frameshift_variant	23038			AK023778	CCDS296.1, CCDS60044.1	1p35.3	2013-01-11			ENSG00000142784	ENSG00000142784		"""DDB1 and CUL4 associated factors"", ""WD repeat domain containing"", ""Tetratricopeptide (TTC) repeat domain containing"""	29175	protein-coding gene	gene with protein product	"""adipose homolog (Drosophila)"", ""DDB1 and CUL4 associated factor 9"""					12717455, 19238144	Standard	NM_015023		Approved	KIAA1037, ADP, DCAF9	uc009vst.3	Q8N5D0	OTTHUMG00000004273	ENST00000319394.3:c.861delG	1.37:g.27621108delG	ENSP00000317971:p.Met287fs	Somatic		WXS	Illumina HiSeq	Phase_IV	D3DPL5|Q5SSC5|Q9NV87|Q9UPW4	Frame_Shift_Del	DEL	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,smart_TPR_repeat,pfscan_TPR-contain_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.E290fs	ENST00000319394.3	37	c.861		1																																																																																			WDTC1	-	superfamily_WD40_repeat_dom		0.537	WDTC1-201	KNOWN	basic|appris_candidate_longest	protein_coding	WDTC1	HGNC	protein_coding		G	NM_015023		27621108	+1	no_errors	ENST00000319394	ensembl	human	known	70_37	frame_shift_del	DEL	1.000	-
WIZ	58525	genome.wustl.edu	37	19	15539200	15539200	+	Intron	SNP	G	G	C			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr19:15539200G>C	ENST00000389282.4	-	6	3314				WIZ_ENST00000599686.3_Intron|WIZ_ENST00000263381.7_Intron|WIZ_ENST00000599910.2_Missense_Mutation_p.P258A|WIZ_ENST00000545156.1_Missense_Mutation_p.P255A			O95785	WIZ_HUMAN	widely interspaced zinc finger motifs						positive regulation of nuclear cell cycle DNA replication (GO:0010571)|protein heterotrimerization (GO:0070208)|protein stabilization (GO:0050821)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(9)|ovary(1)|skin(1)|stomach(1)|urinary_tract(1)	24						TTGGCGTCCGGATCGCTGACG	0.706																																																	0																																										SO:0001627	intron_variant	58525			AK091183	CCDS42516.1	19p13.12	2012-10-05	2007-01-18		ENSG00000011451	ENSG00000011451		"""Zinc fingers, C2H2-type"""	30917	protein-coding gene	gene with protein product			"""WIZ zinc finger"""			9795207, 12226707	Standard	NM_021241		Approved	ZNF803	uc002nbb.4	O95785		ENST00000389282.4:c.3101-856C>G	19.37:g.15539200G>C		Somatic		WXS	Illumina HiSeq	Phase_IV	B3KVH1|B7ZM82|M0QY21|Q4G0E0|Q6P6B0|Q6ZN24|Q7LDY6|Q7LDZ1|Q96IG5|Q96SQ6|Q9BUR8|Q9NPT1	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.P255A	ENST00000389282.4	37	c.763		19	.	.	.	.	.	.	.	.	.	.	G	4.736	0.136774	0.09032	.	.	ENSG00000011451	ENST00000545156	.	.	.	5.11	4.08	0.47627	.	.	.	.	.	T	0.15825	0.0381	.	.	.	0.23795	N	0.996825	.	.	.	.	.	.	T	0.07102	-1.0790	5	0.02654	T	1	.	11.9495	0.52946	0.0856:0.0:0.9144:0.0	.	.	.	.	A	255	.	ENSP00000445824:P255A	P	-	1	0	WIZ	15400200	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	1.011000	0.29911	2.375000	0.81037	0.563000	0.77884	CCG	WIZ	-	NULL		0.706	WIZ-201	KNOWN	basic|appris_principal	protein_coding	WIZ	HGNC	protein_coding		G	NM_021241		15539200	-1	no_errors	ENST00000545156	ensembl	human	known	70_37	missense	SNP	1.000	C
WRNIP1	56897	genome.wustl.edu	37	6	2770393	2770393	+	Missense_Mutation	SNP	C	C	G			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr6:2770393C>G	ENST00000380773.4	+	3	1263	c.1054C>G	c.(1054-1056)Ctg>Gtg	p.L352V	WRNIP1_ENST00000380769.4_Missense_Mutation_p.L132V|WRNIP1_ENST00000380771.4_Intron|WRNIP1_ENST00000380764.1_5'UTR	NM_020135.2	NP_064520.2			Werner helicase interacting protein 1											breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(2)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	14	Ovarian(93;0.0412)	all_hematologic(90;0.0895)				GACGATCACTCTGATTGGGGC	0.488																																																	0													152.0	126.0	135.0					6																	2770393		2203	4300	6503	SO:0001583	missense	56897			AB056152	CCDS4475.1, CCDS4476.1	6p25.2	2010-04-21			ENSG00000124535	ENSG00000124535		"""ATPases / AAA-type"""	20876	protein-coding gene	gene with protein product		608196				11301316	Standard	NM_020135		Approved	WHIP, FLJ22526, bA420G6.2	uc003mtz.3	Q96S55	OTTHUMG00000014126	ENST00000380773.4:c.1054C>G	6.37:g.2770393C>G	ENSP00000370150:p.Leu352Val	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_MgsA_C,pfam_ATPase_AAA_core,pfam_DNA_helicase_Holl-junc_RuvB_N,pfam_ATPase_dyneun-rel_AAA,pfam_DUF815,pfam_IstB_ATP-bd,pfam_ATPase_AAA-2,smart_Znf_Rad18_put,smart_AAA+_ATPase	p.L352V	ENST00000380773.4	37	c.1054	CCDS4475.1	6	.	.	.	.	.	.	.	.	.	.	C	26.0	4.694300	0.88735	.	.	ENSG00000124535	ENST00000380773;ENST00000380769	T;T	0.38240	1.15;1.15	6.06	5.19	0.71726	ATPase, AAA-type, core (1);ATPase, AAA+ type, core (1);	0.064912	0.64402	D	0.000005	T	0.37183	0.0994	L	0.33668	1.02	0.80722	D	1	P	0.51351	0.944	D	0.64144	0.922	T	0.38134	-0.9675	10	0.87932	D	0	-18.1104	14.5665	0.68179	0.0:0.9304:0.0:0.0696	.	352	Q96S55	WRIP1_HUMAN	V	352;132	ENSP00000370150:L352V;ENSP00000370146:L132V	ENSP00000370146:L132V	L	+	1	2	WRNIP1	2715392	0.995000	0.38212	0.969000	0.41365	0.992000	0.81027	3.224000	0.51238	1.577000	0.49804	0.650000	0.86243	CTG	WRNIP1	-	pfam_ATPase_AAA_core,pfam_ATPase_dyneun-rel_AAA,smart_AAA+_ATPase		0.488	WRNIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WRNIP1	HGNC	protein_coding	OTTHUMT00000039641.1	C	NM_130395		2770393	+1	no_errors	ENST00000380773	ensembl	human	known	70_37	missense	SNP	1.000	G
XAB2	56949	genome.wustl.edu	37	19	7685819	7685819	+	Silent	SNP	C	C	T			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr19:7685819C>T	ENST00000358368.4	-	14	1921	c.1884G>A	c.(1882-1884)caG>caA	p.Q628Q	XAB2_ENST00000534844.1_Silent_p.Q625Q	NM_020196.2	NP_064581.2	Q9HCS7	SYF1_HUMAN	XPA binding protein 2	628					blastocyst development (GO:0001824)|DNA repair (GO:0006281)|mRNA splicing, via spliceosome (GO:0000398)|nucleotide-excision repair (GO:0006289)|transcription, DNA-templated (GO:0006351)|transcription-coupled nucleotide-excision repair (GO:0006283)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				breast(1)|central_nervous_system(2)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(2)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	26						ACATGTCATACTGCTGGGCGG	0.637								Direct reversal of damage;Nucleotide excision repair (NER)																																									0													20.0	20.0	20.0					19																	7685819		2199	4298	6497	SO:0001819	synonymous_variant	56949			AB026111	CCDS32892.1	19p13.3	2013-08-21				ENSG00000076924			14089	protein-coding gene	gene with protein product	"""SYF1 homolog, RNA splicing factor (S. cerevisiae)"", ""SYF1 pre-mRNA-splicing factor"""	610850				10944529	Standard	NM_020196		Approved	HCNP, HCRN, SYF1, NTC90	uc002mgx.3	Q9HCS7		ENST00000358368.4:c.1884G>A	19.37:g.7685819C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q8TET6|Q96HB0|Q96IW0|Q9NRG6|Q9ULP3	Silent	SNP	smart_HAT,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.Q628	ENST00000358368.4	37	c.1884	CCDS32892.1	19																																																																																			XAB2	-	smart_HAT		0.637	XAB2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	XAB2	HGNC	protein_coding	OTTHUMT00000461021.1	C	NM_020196		7685819	-1	no_errors	ENST00000358368	ensembl	human	known	70_37	silent	SNP	1.000	T
XAGE3	170626	genome.wustl.edu	37	X	52893804	52893804	+	Splice_Site	SNP	C	C	A			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chrX:52893804C>A	ENST00000346279.3	-	4	383	c.313G>T	c.(313-315)Ggt>Tgt	p.G105C	XAGE3_ENST00000375491.3_Splice_Site_p.G105C	NM_133179.2	NP_573440.1	Q8WTP9	XAGE3_HUMAN	X antigen family, member 3	105										kidney(1)|large_intestine(1)|lung(2)	4						GATAGCATACCTCCTTCTGGC	0.373																																																	0													93.0	83.0	87.0					X																	52893804		2203	4300	6503	SO:0001630	splice_region_variant	170626			BG354572	CCDS14347.1	Xp11.22	2010-09-27	2004-06-07	2005-01-27	ENSG00000171402	ENSG00000171402			14618	protein-coding gene	gene with protein product	"""cancer/testis antigen family 12, member 3a"", ""cancer/testis antigen family 12, member 3b"""	300740	"""placenta-specific 6; G antigen, family D, 4"""	PLAC6, GAGED4			Standard	NM_133179		Approved	XAGE-3, pp9012, CT12.3a, CT12.3b	uc004dre.3	Q8WTP9	OTTHUMG00000021587	ENST00000346279.3:c.313+1G>T	X.37:g.52893804C>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q5JS82|Q8WYS9	Missense_Mutation	SNP	pfam_GAGE	p.G105C	ENST00000346279.3	37	c.313	CCDS14347.1	X	.	.	.	.	.	.	.	.	.	.	c	8.562	0.878074	0.17395	.	.	ENSG00000171402	ENST00000375491;ENST00000346279	T;T	0.16743	2.32;2.32	1.09	0.188	0.15114	.	.	.	.	.	T	0.36690	0.0976	M	0.86097	2.795	0.09310	N	1	D	0.76494	0.999	D	0.67900	0.954	T	0.15435	-1.0437	8	.	.	.	.	3.3167	0.07035	0.0:0.6927:0.0:0.3073	.	105	Q8WTP9	GAGD4_HUMAN	C	105	ENSP00000364640:G105C;ENSP00000303061:G105C	.	G	-	1	0	XAGE3	52910529	0.910000	0.30920	0.006000	0.13384	0.027000	0.11550	1.222000	0.32515	-0.010000	0.14271	-0.444000	0.05651	GGT	XAGE3	-	pfam_GAGE		0.373	XAGE3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	XAGE3	HGNC	protein_coding	OTTHUMT00000056686.1	C	NM_133179	Missense_Mutation	52893804	-1	no_errors	ENST00000346279	ensembl	human	known	70_37	missense	SNP	0.006	A
TSIX	9383	genome.wustl.edu	37	X	73041425	73041425	+	lincRNA	SNP	T	T	G			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chrX:73041425T>G	ENST00000604411.1	+	0	29386				XIST_ENST00000429829.1_lincRNA	NR_003255.2				TSIX transcript, XIST antisense RNA																		CTGAACAATTTAAACCTGGAG	0.388																																																	0													31.0	30.0	30.0					X																	73041425		876	1990	2866			7503					Xq13.2	2012-10-19	2012-08-15			ENSG00000270641		"""Long non-coding RNAs"", ""-"""	12377	non-coding RNA	RNA, long non-coding	"""XIST antisense RNA (non-protein coding)"", ""long intergenic non-protein coding RNA 13"""	300181	"""X (inactive)-specific transcript, antisense"", ""TSIX transcript, XIST antisense RNA (non-protein coding)"""			10192391	Standard	NR_003255		Approved	NCRNA00013, XIST-AS1, LINC00013	uc004ebn.2				X.37:g.73041425T>G		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000604411.1	37	NULL		X																																																																																			XIST	-	-		0.388	TSIX-001	KNOWN	basic	lincRNA	XIST	HGNC	lincRNA	OTTHUMT00000469120.1	T	NR_003255		73041425	-1	no_errors	ENST00000429829	ensembl	human	known	70_37	rna	SNP	0.001	G
TSIX	9383	genome.wustl.edu	37	X	73045990	73045990	+	lincRNA	SNP	C	C	G			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chrX:73045990C>G	ENST00000604411.1	+	0	33951				XIST_ENST00000429829.1_lincRNA	NR_003255.2				TSIX transcript, XIST antisense RNA																		AGGTGCTTCTCAGAAGTCTGG	0.463																																																	0													103.0	97.0	99.0					X																	73045990		876	1991	2867			7503					Xq13.2	2012-10-19	2012-08-15			ENSG00000270641		"""Long non-coding RNAs"", ""-"""	12377	non-coding RNA	RNA, long non-coding	"""XIST antisense RNA (non-protein coding)"", ""long intergenic non-protein coding RNA 13"""	300181	"""X (inactive)-specific transcript, antisense"", ""TSIX transcript, XIST antisense RNA (non-protein coding)"""			10192391	Standard	NR_003255		Approved	NCRNA00013, XIST-AS1, LINC00013	uc004ebn.2				X.37:g.73045990C>G		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000604411.1	37	NULL		X																																																																																			XIST	-	-		0.463	TSIX-001	KNOWN	basic	lincRNA	XIST	HGNC	lincRNA	OTTHUMT00000469120.1	C	NR_003255		73045990	-1	no_errors	ENST00000416330	ensembl	human	known	70_37	rna	SNP	0.577	G
XIST	7503	genome.wustl.edu	37	X	73066381	73066381	+	lincRNA	SNP	G	G	A			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chrX:73066381G>A	ENST00000429829.1	-	0	6207					NR_001564.2				X inactive specific transcript (non-protein coding)																		CACATGGAATGAGCAGTGTGC	0.448																																																	0													212.0	181.0	191.0					X																	73066381		876	1991	2867			7503			M97168		Xq13.2	2013-12-18	2013-02-07		ENSG00000229807	ENSG00000229807		"""Long non-coding RNAs"", ""-"""	12810	non-coding RNA	RNA, long non-coding	"""long intergenic non-protein coding RNA 1"""	314670	"""X (inactive)-specific transcript"", ""X (inactive)-specific transcript (non-protein coding)"""	DXS399E		1985261, 2034279	Standard	NR_001564		Approved	NCRNA00001, DXS1089, swd66, LINC00001	uc004ebm.2		OTTHUMG00000021839		X.37:g.73066381G>A		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000429829.1	37	NULL		X																																																																																			XIST	-	-		0.448	XIST-001	KNOWN	basic	lincRNA	XIST	HGNC	lincRNA	OTTHUMT00000057239.1	G	NR_001564		73066381	-1	no_errors	ENST00000429829	ensembl	human	known	70_37	rna	SNP	0.001	A
XPOT	11260	genome.wustl.edu	37	12	64813963	64813963	+	Silent	SNP	G	G	A			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr12:64813963G>A	ENST00000332707.5	+	7	1132	c.603G>A	c.(601-603)gtG>gtA	p.V201V		NM_007235.4	NP_009166.2	O43592	XPOT_HUMAN	exportin, tRNA	201	Necessary for interaction with Ran, nuclear localization and nuclear import.				intracellular protein transport (GO:0006886)|tRNA export from nucleus (GO:0006409)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	tRNA binding (GO:0000049)			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(7)|lung(12)|ovary(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	45				GBM - Glioblastoma multiforme(28;0.0404)		ATTCTGAAGTGACGTGTCAGT	0.353																																																	0													118.0	122.0	121.0					12																	64813963		2203	4300	6503	SO:0001819	synonymous_variant	11260			AF039022	CCDS31852.1	12q14.1	2012-10-17	2012-10-17		ENSG00000184575	ENSG00000184575		"""Exportins"""	12826	protein-coding gene	gene with protein product		603180	"""exportin, tRNA (nuclear export receptor for tRNAs)"""			9660920, 9512417	Standard	NM_007235		Approved	XPO3	uc001ssb.3	O43592	OTTHUMG00000168794	ENST00000332707.5:c.603G>A	12.37:g.64813963G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	A6NLH1|O43784|Q8WUG2|Q9BVS7	Silent	SNP	pfam_Exportin-1/Importin-b-like,pfam_Importin-beta_N,superfamily_ARM-type_fold,smart_Importin-beta_N	p.V201	ENST00000332707.5	37	c.603	CCDS31852.1	12																																																																																			XPOT	-	pfam_Exportin-1/Importin-b-like,superfamily_ARM-type_fold		0.353	XPOT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	XPOT	HGNC	protein_coding	OTTHUMT00000401122.1	G	NM_007235		64813963	+1	no_errors	ENST00000332707	ensembl	human	known	70_37	silent	SNP	1.000	A
YTHDF3	253943	genome.wustl.edu	37	8	64122560	64122560	+	3'UTR	SNP	G	G	A			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr8:64122560G>A	ENST00000517371.1	+	0	679				YTHDF3_ENST00000542911.2_3'UTR|YTHDF3_ENST00000539294.1_3'UTR|YTHDF3_ENST00000521674.1_3'UTR			Q7Z739	YTHD3_HUMAN	YTH domain family, member 3								N6-methyladenosine-containing RNA binding (GO:1990247)|poly(A) RNA binding (GO:0044822)					Breast(64;0.0716)	all_cancers(86;0.169)|Lung NSC(129;0.0324)|all_lung(136;0.0593)|all_epithelial(80;0.146)	BRCA - Breast invasive adenocarcinoma(89;0.161)			AAGACTGAATGAATGCAAGGA	0.358																																																	0																																										SO:0001624	3_prime_UTR_variant	253943			BC052970	CCDS75747.1, CCDS75748.1, CCDS75749.1	8q12.3	2013-06-07	2004-11-16		ENSG00000185728	ENSG00000185728			26465	protein-coding gene	gene with protein product			"""YTH domain family 3"""			12477932	Standard	NM_152758		Approved	FLJ31657	uc003xuz.4	Q7Z739	OTTHUMG00000164369	ENST00000517371.1:c.*296G>A	8.37:g.64122560G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	B3KXL4|Q63Z37|Q659A3	RNA	SNP	-	NULL	ENST00000517371.1	37	NULL		8																																																																																			YTHDF3	-	-		0.358	YTHDF3-010	PUTATIVE	basic	protein_coding	YTHDF3	HGNC	protein_coding	OTTHUMT00000378466.4	G	NM_152758		64122560	+1	no_errors	ENST00000339066	ensembl	human	known	70_37	rna	SNP	1.000	A
ZBTB43	23099	genome.wustl.edu	37	9	129595499	129595499	+	Silent	SNP	C	C	T			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr9:129595499C>T	ENST00000373464.4	+	3	975	c.711C>T	c.(709-711)atC>atT	p.I237I	ZBTB43_ENST00000373457.1_Silent_p.I237I|ZBTB43_ENST00000449886.1_Silent_p.I237I	NM_014007.3	NP_054726.1	O43298	ZBT43_HUMAN	zinc finger and BTB domain containing 43	237					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(3)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14						AGCCCAGCATCATGGCTCACA	0.627																																																	0													46.0	42.0	43.0					9																	129595499		2203	4300	6503	SO:0001819	synonymous_variant	23099			AF049907	CCDS6867.1	9q33.3	2013-01-09	2006-04-12	2006-04-12	ENSG00000169155	ENSG00000169155		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	17908	protein-coding gene	gene with protein product			"""zinc finger protein 297B"""	ZNF297B			Standard	NM_014007		Approved	KIAA0414, ZNF-X, FLJ22470, ZBTB22B	uc010mxf.3	O43298	OTTHUMG00000020693	ENST00000373464.4:c.711C>T	9.37:g.129595499C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q5JU96	Silent	SNP	pfam_BTB_POZ,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,smart_Znf_C2H2-like,pfscan_BTB/POZ-like,pfscan_Znf_C2H2	p.I237	ENST00000373464.4	37	c.711	CCDS6867.1	9																																																																																			ZBTB43	-	NULL		0.627	ZBTB43-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ZBTB43	HGNC	protein_coding	OTTHUMT00000054124.1	C	NM_001135776		129595499	+1	no_errors	ENST00000373457	ensembl	human	known	70_37	silent	SNP	0.999	T
ZC3H10	84872	genome.wustl.edu	37	12	56515629	56515629	+	Missense_Mutation	SNP	G	G	A			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr12:56515629G>A	ENST00000257940.2	+	3	1559	c.1283G>A	c.(1282-1284)cGc>cAc	p.R428H	RP11-603J24.6_ENST00000550840.1_RNA|RP11-603J24.5_ENST00000550947.1_RNA|RP11-603J24.5_ENST00000549438.1_RNA	NM_032786.1	NP_116175.1	Q96K80	ZC3HA_HUMAN	zinc finger CCCH-type containing 10	428							metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(4)|large_intestine(1)|lung(2)|prostate(2)|skin(1)	11			OV - Ovarian serous cystadenocarcinoma(18;0.12)			CAGAGCATGCGCATCACGGCC	0.612																																																	0													75.0	58.0	64.0					12																	56515629		2203	4300	6503	SO:0001583	missense	84872			BC018708	CCDS8903.1	12q13.2	2012-07-05	2005-06-02	2005-06-02		ENSG00000135482		"""Zinc fingers, CCCH-type domain containing"""	25893	protein-coding gene	gene with protein product			"""zinc finger CCCH-type domain containing 10"""	ZC3HDC10		12477932	Standard	NM_032786		Approved	FLJ14451	uc001sjp.1	Q96K80		ENST00000257940.2:c.1283G>A	12.37:g.56515629G>A	ENSP00000257940:p.Arg428His	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_Znf_CCCH,smart_Znf_CCCH	p.R428H	ENST00000257940.2	37	c.1283	CCDS8903.1	12	.	.	.	.	.	.	.	.	.	.	G	20.2	3.955149	0.73902	.	.	ENSG00000135482	ENST00000257940	.	.	.	5.73	5.73	0.89815	.	0.000000	0.85682	D	0.000000	T	0.43853	0.1266	N	0.19112	0.55	0.80722	D	1	B	0.33238	0.403	B	0.19391	0.025	T	0.47623	-0.9103	9	0.87932	D	0	-0.2796	19.059	0.93080	0.0:0.0:1.0:0.0	.	428	Q96K80	ZC3HA_HUMAN	H	428	.	ENSP00000257940:R428H	R	+	2	0	ZC3H10	54801896	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.523000	0.81856	2.882000	0.98803	0.655000	0.94253	CGC	ZC3H10	-	NULL		0.612	ZC3H10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZC3H10	HGNC	protein_coding	OTTHUMT00000407826.1	G	NM_032786		56515629	+1	no_errors	ENST00000257940	ensembl	human	known	70_37	missense	SNP	1.000	A
ZC4H2	55906	genome.wustl.edu	37	X	64136735	64136735	+	3'UTR	SNP	A	A	C			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chrX:64136735A>C	ENST00000374839.3	-	0	1709				ZC4H2_ENST00000447788.2_3'UTR|ZC4H2_ENST00000488608.1_5'UTR|ZC4H2_ENST00000337990.2_3'UTR|ZC4H2_ENST00000545618.1_3'UTR	NM_018684.3	NP_061154.1	Q9NQZ6	ZC4H2_HUMAN	zinc finger, C4H2 domain containing						nervous system development (GO:0007399)|neuromuscular junction development (GO:0007528)|spinal cord motor neuron differentiation (GO:0021522)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)	metal ion binding (GO:0046872)			endometrium(2)|large_intestine(4)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						TTCATGTGTAAAGTGATTGGC	0.468																																																	0																																										SO:0001624	3_prime_UTR_variant	55906			AF270491	CCDS14380.1, CCDS55431.1, CCDS55432.1	Xq11.1	2013-07-23	2008-10-01	2008-10-01	ENSG00000126970	ENSG00000126970		"""Zinc fingers"""	24931	protein-coding gene	gene with protein product		300897	"""KIAA1166"", ""Wieacker-Wolff syndrome"""	KIAA1166, WWS		10574461, 12097419, 23623388	Standard	NM_018684		Approved	HCA127	uc004dvu.3	Q9NQZ6	OTTHUMG00000021712	ENST00000374839.3:c.*928T>G	X.37:g.64136735A>C		Somatic		WXS	Illumina HiSeq	Phase_IV	B2RDC2|B3KVZ5|B4DED0|E7EM74|G3V1L3|Q53H73|Q5JTF9|Q9H9C3|Q9H9H7|Q9ULQ4	RNA	SNP	-	NULL	ENST00000374839.3	37	NULL	CCDS14380.1	X																																																																																			ZC4H2	-	-		0.468	ZC4H2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZC4H2	HGNC	protein_coding	OTTHUMT00000056958.1	A	NM_018684		64136735	-1	no_errors	ENST00000488608	ensembl	human	known	70_37	rna	SNP	0.000	C
ZC4H2	55906	genome.wustl.edu	37	X	64141715	64141715	+	Silent	SNP	G	G	A			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chrX:64141715G>A	ENST00000374839.3	-	2	313	c.207C>T	c.(205-207)atC>atT	p.I69I	ZC4H2_ENST00000447788.2_Silent_p.I69I|ZC4H2_ENST00000488608.1_5'UTR|ZC4H2_ENST00000337990.2_Silent_p.I46I|ZC4H2_ENST00000545618.1_Silent_p.I64I	NM_018684.3	NP_061154.1	Q9NQZ6	ZC4H2_HUMAN	zinc finger, C4H2 domain containing	69					nervous system development (GO:0007399)|neuromuscular junction development (GO:0007528)|spinal cord motor neuron differentiation (GO:0021522)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)	metal ion binding (GO:0046872)			endometrium(2)|large_intestine(4)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						TGTCAGCGTGGATCAGTCGGA	0.512																																																	0													172.0	102.0	125.0					X																	64141715		2203	4300	6503	SO:0001819	synonymous_variant	55906			AF270491	CCDS14380.1, CCDS55431.1, CCDS55432.1	Xq11.1	2013-07-23	2008-10-01	2008-10-01	ENSG00000126970	ENSG00000126970		"""Zinc fingers"""	24931	protein-coding gene	gene with protein product		300897	"""KIAA1166"", ""Wieacker-Wolff syndrome"""	KIAA1166, WWS		10574461, 12097419, 23623388	Standard	NM_018684		Approved	HCA127	uc004dvu.3	Q9NQZ6	OTTHUMG00000021712	ENST00000374839.3:c.207C>T	X.37:g.64141715G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	B2RDC2|B3KVZ5|B4DED0|E7EM74|G3V1L3|Q53H73|Q5JTF9|Q9H9C3|Q9H9H7|Q9ULQ4	Silent	SNP	pfam_Znf-C4H2	p.I69	ENST00000374839.3	37	c.207	CCDS14380.1	X																																																																																			ZC4H2	-	pfam_Znf-C4H2		0.512	ZC4H2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZC4H2	HGNC	protein_coding	OTTHUMT00000056958.1	G	NM_018684		64141715	-1	no_errors	ENST00000374839	ensembl	human	known	70_37	silent	SNP	1.000	A
ZFHX3	463	genome.wustl.edu	37	16	72821213	72821213	+	Silent	SNP	C	C	G			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr16:72821213C>G	ENST00000268489.5	-	10	11634	c.10962G>C	c.(10960-10962)tcG>tcC	p.S3654S	AC004943.1_ENST00000584072.1_RNA|ZFHX3_ENST00000397992.5_Silent_p.S2740S|RP5-991G20.1_ENST00000563328.2_RNA|RP5-991G20.4_ENST00000569195.1_RNA	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	3654					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|muscle organ development (GO:0007517)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of myoblast differentiation (GO:0045663)|regulation of neuron differentiation (GO:0045664)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	enzyme binding (GO:0019899)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				CTGTTGGCATCGAGGGCTGAA	0.602																																																	0													88.0	87.0	87.0					16																	72821213		2198	4300	6498	SO:0001819	synonymous_variant	463			D10250	CCDS10908.1, CCDS54035.1	16q22.3	2012-03-09	2007-08-09	2007-08-09	ENSG00000140836	ENSG00000140836		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	777	protein-coding gene	gene with protein product		104155	"""AT-binding transcription factor 1"""	ATBF1		1719379, 7592926	Standard	NM_006885		Approved	ZNF927	uc002fck.3	Q15911	OTTHUMG00000137599	ENST00000268489.5:c.10962G>C	16.37:g.72821213C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	D3DWS8|O15101|Q13719	Silent	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Znf_C2H2-like,smart_Znf_U1,smart_Homeodomain,pfscan_Homeodomain,pfscan_Znf_C2H2	p.S3654	ENST00000268489.5	37	c.10962	CCDS10908.1	16																																																																																			ZFHX3	-	NULL		0.602	ZFHX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFHX3	HGNC	protein_coding	OTTHUMT00000269008.1	C	NM_006885		72821213	-1	no_errors	ENST00000268489	ensembl	human	known	70_37	silent	SNP	1.000	G
ZFHX3	463	genome.wustl.edu	37	16	72828826	72828826	+	Silent	SNP	G	G	A			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr16:72828826G>A	ENST00000268489.5	-	9	8427	c.7755C>T	c.(7753-7755)gcC>gcT	p.A2585A	ZFHX3_ENST00000397992.5_Silent_p.A1671A	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	2585					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|muscle organ development (GO:0007517)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of myoblast differentiation (GO:0045663)|regulation of neuron differentiation (GO:0045664)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	enzyme binding (GO:0019899)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				GCAGCTGGCTGGCCAGGAGTG	0.542																																																	0													80.0	82.0	81.0					16																	72828826		2198	4300	6498	SO:0001819	synonymous_variant	463			D10250	CCDS10908.1, CCDS54035.1	16q22.3	2012-03-09	2007-08-09	2007-08-09	ENSG00000140836	ENSG00000140836		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	777	protein-coding gene	gene with protein product		104155	"""AT-binding transcription factor 1"""	ATBF1		1719379, 7592926	Standard	NM_006885		Approved	ZNF927	uc002fck.3	Q15911	OTTHUMG00000137599	ENST00000268489.5:c.7755C>T	16.37:g.72828826G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	D3DWS8|O15101|Q13719	Silent	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Znf_C2H2-like,smart_Znf_U1,smart_Homeodomain,pfscan_Homeodomain,pfscan_Znf_C2H2	p.A2585	ENST00000268489.5	37	c.7755	CCDS10908.1	16																																																																																			ZFHX3	-	NULL		0.542	ZFHX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFHX3	HGNC	protein_coding	OTTHUMT00000269008.1	G	NM_006885		72828826	-1	no_errors	ENST00000268489	ensembl	human	known	70_37	silent	SNP	0.446	A
ZFP14	57677	genome.wustl.edu	37	19	36851367	36851367	+	Missense_Mutation	SNP	C	C	T			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr19:36851367C>T	ENST00000270001.7	-	4	320	c.205G>A	c.(205-207)Gtg>Atg	p.V69M	ZFP14_ENST00000589280.1_Missense_Mutation_p.V70M	NM_020917.2	NP_065968.1	Q9HCL3	ZFP14_HUMAN	ZFP14 zinc finger protein	69	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	26	Esophageal squamous(110;0.162)					CCTTCCCTCACAACCATCCCA	0.438																																																	0													212.0	164.0	180.0					19																	36851367		2203	4300	6503	SO:0001583	missense	57677			AB046779	CCDS33002.1	19q13.13	2013-01-08	2012-11-27			ENSG00000142065		"""Zinc fingers, C2H2-type"", ""-"""	29312	protein-coding gene	gene with protein product			"""zinc finger protein 14 homolog (mouse)"""			10997877	Standard	NM_020917		Approved	KIAA1559, ZNF531	uc010eex.2	Q9HCL3		ENST00000270001.7:c.205G>A	19.37:g.36851367C>T	ENSP00000270001:p.Val69Met	Somatic		WXS	Illumina HiSeq	Phase_IV	A7MD23	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.V69M	ENST00000270001.7	37	c.205	CCDS33002.1	19	.	.	.	.	.	.	.	.	.	.	C	9.390	1.075164	0.20227	.	.	ENSG00000142065	ENST00000270001;ENST00000392172	T	0.06608	3.28	3.62	2.59	0.31030	Krueppel-associated box (1);	0.828034	0.09847	N	0.748056	T	0.06188	0.0160	L	0.37800	1.135	0.24006	N	0.996192	B;B	0.21309	0.054;0.015	B;B	0.17433	0.018;0.012	T	0.32428	-0.9907	10	0.48119	T	0.1	.	7.0834	0.25244	0.0:0.8761:0.0:0.1239	.	69;69	A8KAN8;Q9HCL3	.;ZFP14_HUMAN	M	69	ENSP00000270001:V69M	ENSP00000270001:V69M	V	-	1	0	ZFP14	41543207	0.000000	0.05858	0.955000	0.39395	0.558000	0.35554	-0.648000	0.05391	1.115000	0.41800	0.650000	0.86243	GTG	ZFP14	-	pfscan_Krueppel-associated_box		0.438	ZFP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFP14	HGNC	protein_coding	OTTHUMT00000452528.1	C	NM_020917		36851367	-1	no_errors	ENST00000270001	ensembl	human	known	70_37	missense	SNP	0.965	T
ZFPL1	7542	genome.wustl.edu	37	11	64855570	64855570	+	Missense_Mutation	SNP	G	G	A			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr11:64855570G>A	ENST00000294258.3	+	8	1069	c.917G>A	c.(916-918)cGc>cAc	p.R306H	AP003068.6_ENST00000525544.2_5'Flank	NM_006782.3	NP_006773.2	O95159	ZFPL1_HUMAN	zinc finger protein-like 1	306					regulation of transcription, DNA-templated (GO:0006355)|vesicle-mediated transport (GO:0016192)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)|skin(1)	11						CCTCACATCCGCGTGGGCCCC	0.657																																																	0													66.0	67.0	67.0					11																	64855570		2201	4297	6498	SO:0001583	missense	7542				CCDS8092.1	11q13	2013-01-08			ENSG00000162300	ENSG00000162300			12868	protein-coding gene	gene with protein product	"""zinc-finger protein in MEN1 region"""					9653652	Standard	NM_006782		Approved	D11S750, MCG4	uc001ocq.1	O95159	OTTHUMG00000165597	ENST00000294258.3:c.917G>A	11.37:g.64855570G>A	ENSP00000294258:p.Arg306His	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K7E9|O14616|Q9UID0	Missense_Mutation	SNP	NULL	p.R306H	ENST00000294258.3	37	c.917	CCDS8092.1	11	.	.	.	.	.	.	.	.	.	.	G	14.73	2.623679	0.46840	.	.	ENSG00000162300	ENST00000294258	T	0.53206	0.63	4.94	4.94	0.65067	.	0.176835	0.48286	D	0.000192	T	0.30696	0.0773	L	0.28054	0.825	0.80722	D	1	B	0.32128	0.357	B	0.26693	0.072	T	0.11690	-1.0577	10	0.38643	T	0.18	-10.5648	9.1213	0.36788	0.0975:0.0:0.9025:0.0	.	306	O95159	ZFPL1_HUMAN	H	306	ENSP00000294258:R306H	ENSP00000294258:R306H	R	+	2	0	ZFPL1	64612146	1.000000	0.71417	1.000000	0.80357	0.900000	0.52787	6.103000	0.71492	2.563000	0.86464	0.655000	0.94253	CGC	ZFPL1	-	NULL		0.657	ZFPL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFPL1	HGNC	protein_coding	OTTHUMT00000385196.1	G	NM_006782		64855570	+1	no_errors	ENST00000294258	ensembl	human	known	70_37	missense	SNP	1.000	A
ZFR2	23217	genome.wustl.edu	37	19	3823381	3823381	+	Missense_Mutation	SNP	C	C	A			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr19:3823381C>A	ENST00000262961.4	-	8	1244	c.1234G>T	c.(1234-1236)Gca>Tca	p.A412S		NM_015174.1	NP_055989.1	Q9UPR6	ZFR2_HUMAN	zinc finger RNA binding protein 2	412							nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(5)|pancreas(1)|prostate(1)|skin(1)	16				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00514)|STAD - Stomach adenocarcinoma(1328;0.19)		CTGCAGCCTGCTGCCTGTGGC	0.617																																																	0													37.0	40.0	39.0					19																	3823381		1861	4103	5964	SO:0001583	missense	23217			AB029009	CCDS45921.1, CCDS45922.1	19p13.3	2012-10-05	2008-03-25	2008-03-25	ENSG00000105278	ENSG00000105278			29189	protein-coding gene	gene with protein product			"""KIAA1086"""	KIAA1086		10470851	Standard	NM_015174		Approved		uc002lyw.2	Q9UPR6	OTTHUMG00000180918	ENST00000262961.4:c.1234G>T	19.37:g.3823381C>A	ENSP00000262961:p.Ala412Ser	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_DZF,smart_Znf_U1,smart_Znf_C2H2-like,smart_DZF	p.A412S	ENST00000262961.4	37	c.1234	CCDS45921.1	19	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	12.17|12.17	1.857965|1.857965	0.32791|0.32791	.|.	.|.	ENSG00000105278|ENSG00000105278	ENST00000262961|ENST00000438164	T|T	0.07216|0.14516	3.21|2.5	3.4|3.4	1.13|1.13	0.20643|0.20643	.|.	0.885835|.	0.09407|.	U|.	0.806316|.	T|T	0.14098|0.14098	0.0341|0.0341	L|L	0.41710|0.41710	1.295|1.295	0.09310|0.09310	N|N	1|1	B|.	0.29590|.	0.25|.	B|.	0.29942|.	0.109|.	T|T	0.25467|0.25467	-1.0131|-1.0131	10|7	0.34782|0.87932	T|D	0.22|0	2.0E-4|2.0E-4	5.8517|5.8517	0.18696|0.18696	0.0:0.7406:0.0:0.2594|0.0:0.7406:0.0:0.2594	.|.	412|.	Q9UPR6|.	ZFR2_HUMAN|.	S|H	412|352	ENSP00000262961:A412S|ENSP00000388974:Q352H	ENSP00000262961:A412S|ENSP00000388974:Q352H	A|Q	-|-	1|3	0|2	ZFR2|ZFR2	3774381|3774381	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.002000|0.002000	0.02628|0.02628	0.133000|0.133000	0.15912|0.15912	0.157000|0.157000	0.19338|0.19338	0.561000|0.561000	0.74099|0.74099	GCA|CAG	ZFR2	-	NULL		0.617	ZFR2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFR2	HGNC	protein_coding	OTTHUMT00000453648.2	C	NM_015174		3823381	-1	no_errors	ENST00000262961	ensembl	human	known	70_37	missense	SNP	0.000	A
ZFR2	23217	genome.wustl.edu	37	19	3825390	3825390	+	Missense_Mutation	SNP	C	C	T			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr19:3825390C>T	ENST00000262961.4	-	7	1061	c.1051G>A	c.(1051-1053)Gcc>Acc	p.A351T		NM_015174.1	NP_055989.1	Q9UPR6	ZFR2_HUMAN	zinc finger RNA binding protein 2	351							nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			central_nervous_system(1)|kidney(3)|large_intestine(4)|lung(5)|pancreas(1)|prostate(1)|skin(1)	16				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00514)|STAD - Stomach adenocarcinoma(1328;0.19)		CCCAGTTTGGCGTGCAGCTTG	0.682																																																	0													12.0	16.0	15.0					19																	3825390		1965	4140	6105	SO:0001583	missense	23217			AB029009	CCDS45921.1, CCDS45922.1	19p13.3	2012-10-05	2008-03-25	2008-03-25	ENSG00000105278	ENSG00000105278			29189	protein-coding gene	gene with protein product			"""KIAA1086"""	KIAA1086		10470851	Standard	NM_015174		Approved		uc002lyw.2	Q9UPR6	OTTHUMG00000180918	ENST00000262961.4:c.1051G>A	19.37:g.3825390C>T	ENSP00000262961:p.Ala351Thr	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_DZF,smart_Znf_U1,smart_Znf_C2H2-like,smart_DZF	p.A351T	ENST00000262961.4	37	c.1051	CCDS45921.1	19	.	.	.	.	.	.	.	.	.	.	C	0.003	-2.542724	0.00142	.	.	ENSG00000105278	ENST00000262961	T	0.04603	3.59	2.83	-2.19	0.07015	.	0.165132	0.38548	N	0.001652	T	0.00666	0.0022	N	0.00032	-2.585	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.49634	-0.8919	10	0.02654	T	1	-16.1448	8.2017	0.31428	0.0:0.3276:0.0:0.6724	.	351	Q9UPR6	ZFR2_HUMAN	T	351	ENSP00000262961:A351T	ENSP00000262961:A351T	A	-	1	0	ZFR2	3776390	1.000000	0.71417	0.089000	0.20774	0.012000	0.07955	1.976000	0.40579	-0.832000	0.04251	-2.871000	0.00099	GCC	ZFR2	-	NULL		0.682	ZFR2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFR2	HGNC	protein_coding	OTTHUMT00000453648.2	C	NM_015174		3825390	-1	no_errors	ENST00000262961	ensembl	human	known	70_37	missense	SNP	1.000	T
ZHX3	23051	genome.wustl.edu	37	20	39832662	39832662	+	Missense_Mutation	SNP	C	C	A			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr20:39832662C>A	ENST00000309060.3	-	4	1310	c.895G>T	c.(895-897)Gtg>Ttg	p.V299L	ZHX3_ENST00000540170.1_Missense_Mutation_p.V299L|ZHX3_ENST00000559234.1_Missense_Mutation_p.V299L|ZHX3_ENST00000432768.2_Missense_Mutation_p.V299L|ZHX3_ENST00000557816.1_Intron|ZHX3_ENST00000560361.1_Missense_Mutation_p.V299L|ZHX3_ENST00000558993.1_Intron|ZHX3_ENST00000544979.2_Missense_Mutation_p.V299L			Q9H4I2	ZHX3_HUMAN	zinc fingers and homeoboxes 3	299	Required for homodimerization and interaction with NFYA.				cell differentiation (GO:0030154)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of osteoblast differentiation (GO:0045669)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			endometrium(2)|kidney(5)|large_intestine(8)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	31		Myeloproliferative disorder(115;0.00425)				GGGATCATCACTTTGGGAAGG	0.577																																																	0													93.0	83.0	86.0					20																	39832662		2203	4300	6503	SO:0001583	missense	23051			AB007855	CCDS13315.1	20q12	2012-03-09	2004-01-29	2004-01-30	ENSG00000174306	ENSG00000174306		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	15935	protein-coding gene	gene with protein product		609598	"""triple homeobox 1"""	TIX1		9455477	Standard	XM_005260343		Approved	KIAA0395	uc002xjs.1	Q9H4I2	OTTHUMG00000032481	ENST00000309060.3:c.895G>T	20.37:g.39832662C>A	ENSP00000312222:p.Val299Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	E1P5W5|F5H820|O43145|Q6NUJ7	Missense_Mutation	SNP	pfam_Homeodomain,superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeodomain,pfscan_Homeodomain	p.V299L	ENST00000309060.3	37	c.895	CCDS13315.1	20	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	23.3|23.3	4.402683|4.402683	0.83230|0.83230	.|.	.|.	ENSG00000174306|ENSG00000174306	ENST00000421422|ENST00000309060;ENST00000373263;ENST00000540170;ENST00000544979;ENST00000373262;ENST00000432768	.|T;T;T;T;T	.|0.38722	.|1.12;2.48;2.48;2.25;1.12	6.07|6.07	6.07|6.07	0.98685|0.98685	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.63271|0.63271	0.2497|0.2497	L|L	0.60455|0.60455	1.87|1.87	0.58432|0.58432	D|D	0.999999|0.999999	.|D;D;D	.|0.76494	.|0.999;0.995;0.965	.|D;D;P	.|0.71414	.|0.973;0.955;0.79	T|T	0.57522|0.57522	-0.7797|-0.7797	5|10	.|0.45353	.|T	.|0.12	-23.3503|-23.3503	20.6439|20.6439	0.99570|0.99570	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|299;299;299	.|A8K8Q0;Q9H4I2;F5H820	.|.;ZHX3_HUMAN;.	I|L	7|299;299;299;299;77;299	.|ENSP00000312222:V299L;ENSP00000362360:V299L;ENSP00000442290:V299L;ENSP00000443783:V299L;ENSP00000415498:V299L	.|ENSP00000312222:V299L	S|V	-|-	2|1	0|0	ZHX3|ZHX3	39266076|39266076	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.986000|0.986000	0.74619|0.74619	7.487000|7.487000	0.81328|0.81328	2.884000|2.884000	0.98904|0.98904	0.655000|0.655000	0.94253|0.94253	AGT|GTG	ZHX3	-	NULL		0.577	ZHX3-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	ZHX3	HGNC	protein_coding	OTTHUMT00000079262.3	C	NM_015035		39832662	-1	no_errors	ENST00000373263	ensembl	human	known	70_37	missense	SNP	1.000	A
ZKSCAN2	342357	genome.wustl.edu	37	16	25255116	25255116	+	Missense_Mutation	SNP	C	C	G			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr16:25255116C>G	ENST00000328086.7	-	6	2774	c.1971G>C	c.(1969-1971)caG>caC	p.Q657H		NM_001012981.4	NP_001012999.3	Q63HK3	ZKSC2_HUMAN	zinc finger with KRAB and SCAN domains 2	657					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(15)|ovary(3)|prostate(1)|stomach(2)|upper_aerodigestive_tract(1)	36				GBM - Glioblastoma multiforme(48;0.0378)		CATTTGGGCTCTGCAGTAGAC	0.448																																																	0													121.0	123.0	122.0					16																	25255116		2197	4300	6497	SO:0001583	missense	342357			AK026852	CCDS32410.1	16p12.1	2013-01-09	2007-02-20	2007-02-20		ENSG00000155592		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	25677	protein-coding gene	gene with protein product			"""zinc finger protein 694"""	ZNF694			Standard	NM_001012981		Approved	FLJ23199, ZSCAN34	uc002dod.4	Q63HK3		ENST00000328086.7:c.1971G>C	16.37:g.25255116C>G	ENSP00000331626:p.Gln657His	Somatic		WXS	Illumina HiSeq	Phase_IV	A1L3B4|Q6ZN77	Missense_Mutation	SNP	pfam_Tscrpt_reg_SCAN,pfam_Znf_C2H2,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN	p.Q657H	ENST00000328086.7	37	c.1971	CCDS32410.1	16	.	.	.	.	.	.	.	.	.	.	C	12.81	2.050598	0.36181	.	.	ENSG00000155592	ENST00000328086;ENST00000536768	T	0.08193	3.12	5.32	0.201	0.15186	.	0.285984	0.25869	N	0.027764	T	0.09512	0.0234	L	0.56769	1.78	0.32246	N	0.572125	P;P	0.48407	0.799;0.91	P;P	0.45946	0.498;0.498	T	0.14727	-1.0462	10	0.51188	T	0.08	-7.9733	4.1478	0.10224	0.0:0.3167:0.179:0.5043	.	453;657	B4DYF0;Q63HK3	.;ZKSC2_HUMAN	H	657	ENSP00000331626:Q657H	ENSP00000331626:Q657H	Q	-	3	2	ZKSCAN2	25162617	0.405000	0.25336	0.996000	0.52242	0.743000	0.42351	0.205000	0.17356	0.042000	0.15717	0.467000	0.42956	CAG	ZKSCAN2	-	NULL		0.448	ZKSCAN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZKSCAN2	HGNC	protein_coding	OTTHUMT00000435739.1	C	NM_001012981		25255116	-1	no_errors	ENST00000328086	ensembl	human	known	70_37	missense	SNP	0.992	G
ZKSCAN5	23660	genome.wustl.edu	37	7	99123897	99123897	+	Missense_Mutation	SNP	C	C	T			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr7:99123897C>T	ENST00000394170.2	+	6	1485	c.1234C>T	c.(1234-1236)Cgg>Tgg	p.R412W	ZKSCAN5_ENST00000326775.5_Missense_Mutation_p.R412W|ZKSCAN5_ENST00000451158.1_Missense_Mutation_p.R412W	NM_014569.3	NP_055384.1	Q9Y2L8	ZKSC5_HUMAN	zinc finger with KRAB and SCAN domains 5	412					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(3)|endometrium(1)|kidney(1)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	21	all_cancers(62;2.54e-08)|all_epithelial(64;2.55e-09)|Lung NSC(181;0.0053)|all_lung(186;0.00895)|Esophageal squamous(72;0.0166)					AAAGGCTTTCCGGGTGAGTTC	0.577																																																	0													142.0	140.0	141.0					7																	99123897		2203	4300	6503	SO:0001583	missense	23660			AF170025	CCDS5667.1	7q22	2013-01-09	2007-02-20	2007-02-20	ENSG00000196652	ENSG00000196652		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	12867	protein-coding gene	gene with protein product		611272	"""zinc finger protein homologous to Zfp95 in mouse"", ""zinc finger protein 95 homolog (mouse)"""	ZFP95		10585779	Standard	NM_014569		Approved	ZNF914, ZSCAN37	uc003uqv.3	Q9Y2L8	OTTHUMG00000156749	ENST00000394170.2:c.1234C>T	7.37:g.99123897C>T	ENSP00000377725:p.Arg412Trp	Somatic		WXS	Illumina HiSeq	Phase_IV	A4D280|D6W5S9	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,pfam_Krueppel-associated_box,superfamily_Retrov_capsid_C,superfamily_Krueppel-associated_box,smart_Tscrpt_reg_SCAN,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Tscrpt_reg_SCAN	p.R412W	ENST00000394170.2	37	c.1234	CCDS5667.1	7	.	.	.	.	.	.	.	.	.	.	C	19.15	3.771008	0.69992	.	.	ENSG00000196652	ENST00000537357;ENST00000326775;ENST00000451158;ENST00000394170	T;T;T	0.07567	3.18;3.18;3.18	4.63	4.63	0.57726	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.261790	0.27567	N	0.018793	T	0.23532	0.0569	M	0.70787	2.145	0.31638	N	0.648206	D;D	0.89917	1.0;1.0	D;D	0.76071	0.987;0.987	T	0.04825	-1.0924	10	0.42905	T	0.14	.	8.877	0.35352	0.0:0.8995:0.0:0.1005	.	412;412	Q8N718;Q9Y2L8	.;ZKSC5_HUMAN	W	412	ENSP00000322872:R412W;ENSP00000392104:R412W;ENSP00000377725:R412W	ENSP00000322872:R412W	R	+	1	2	ZKSCAN5	98961833	0.000000	0.05858	0.987000	0.45799	0.997000	0.91878	0.286000	0.18902	2.581000	0.87130	0.655000	0.94253	CGG	ZKSCAN5	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.577	ZKSCAN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZKSCAN5	HGNC	protein_coding	OTTHUMT00000345597.1	C	NM_014569		99123897	+1	no_errors	ENST00000326775	ensembl	human	known	70_37	missense	SNP	0.937	T
ZMAT1	84460	genome.wustl.edu	37	X	101138741	101138741	+	Missense_Mutation	SNP	T	T	C			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chrX:101138741T>C	ENST00000372782.3	-	7	1705	c.1658A>G	c.(1657-1659)gAg>gGg	p.E553G	ZMAT1_ENST00000458570.1_Missense_Mutation_p.E382G|ZMAT1_ENST00000540921.1_Missense_Mutation_p.E553G|ZMAT1_ENST00000494068.1_5'UTR	NM_001011657.3	NP_001011657	Q5H9K5	ZMAT1_HUMAN	zinc finger, matrin-type 1	553						nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			endometrium(3)|kidney(2)|large_intestine(6)|lung(6)|ovary(1)|prostate(1)|skin(1)|urinary_tract(2)	22						CTGCTCTTTCTCTGGCCTTTC	0.403																																																	0													228.0	185.0	200.0					X																	101138741		2203	4300	6503	SO:0001583	missense	84460			Z69304	CCDS35348.1	Xq21	2012-10-05	2010-09-15		ENSG00000166432	ENSG00000166432		"""Zinc fingers, matrin-type"""	29377	protein-coding gene	gene with protein product							Standard	NM_001011657		Approved	KIAA1789	uc011mrl.2	Q5H9K5	OTTHUMG00000022044	ENST00000372782.3:c.1658A>G	X.37:g.101138741T>C	ENSP00000361868:p.Glu553Gly	Somatic		WXS	Illumina HiSeq	Phase_IV	Q8NDS3|Q96JN6	Missense_Mutation	SNP	superfamily_Asn/Gln_tRNA_amidoTrfrase-rel,smart_Znf_U1,smart_Znf_C2H2-like	p.E553G	ENST00000372782.3	37	c.1658	CCDS35348.1	X	.	.	.	.	.	.	.	.	.	.	T	11.74	1.728381	0.30593	.	.	ENSG00000166432	ENST00000372782;ENST00000540921;ENST00000458570	T;T;T	0.26067	2.34;2.34;1.76	4.37	4.37	0.52481	.	0.390573	0.25355	N	0.031263	T	0.20780	0.0500	L	0.43152	1.355	0.29270	N	0.870769	D	0.53151	0.958	B	0.42692	0.395	T	0.22661	-1.0210	10	0.72032	D	0.01	-13.0141	5.6273	0.17490	0.0:0.1188:0.0:0.8812	.	553	Q5H9K5	ZMAT1_HUMAN	G	553;553;382	ENSP00000361868:E553G;ENSP00000437529:E553G;ENSP00000413044:E382G	ENSP00000361868:E553G	E	-	2	0	ZMAT1	101025397	1.000000	0.71417	0.987000	0.45799	0.568000	0.35870	3.937000	0.56575	1.913000	0.55393	0.486000	0.48141	GAG	ZMAT1	-	NULL		0.403	ZMAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZMAT1	HGNC	protein_coding	OTTHUMT00000057598.1	T			101138741	-1	no_errors	ENST00000372782	ensembl	human	known	70_37	missense	SNP	0.999	C
ZMYM2	7750	genome.wustl.edu	37	13	20641000	20641000	+	Missense_Mutation	SNP	A	A	G			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr13:20641000A>G	ENST00000382874.2	+	21	3332	c.3142A>G	c.(3142-3144)Aga>Gga	p.R1048G	ZMYM2_ENST00000494061.2_3'UTR|ZMYM2_ENST00000382871.2_Missense_Mutation_p.R1048G|ZMYM2_ENST00000382869.3_Missense_Mutation_p.R1048G	NM_001190964.1	NP_001177893.1	Q9UBW7	ZMYM2_HUMAN	zinc finger, MYM-type 2	1048					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|PML body (GO:0016605)	ubiquitin conjugating enzyme binding (GO:0031624)|zinc ion binding (GO:0008270)			large_intestine(3)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	10		all_cancers(29;8.65e-21)|all_epithelial(30;1.04e-18)|all_lung(29;6.75e-18)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;0.000148)|Epithelial(112;0.000249)|OV - Ovarian serous cystadenocarcinoma(117;0.00816)|Lung(94;0.0173)|LUSC - Lung squamous cell carcinoma(192;0.0856)		GGGAGCCAAGAGAAAGGCTGT	0.338																																																	0													83.0	76.0	78.0					13																	20641000		1836	4081	5917	SO:0001583	missense	7750			AF012126	CCDS45016.1	13q11-q12	2013-01-08	2006-07-13	2006-07-13	ENSG00000121741	ENSG00000121741		"""Zinc fingers, MYM type"""	12989	protein-coding gene	gene with protein product		602221	"""zinc finger protein 198"""	ZNF198		9499416, 9425908	Standard	XM_005266517		Approved	RAMP, FIM, MYM	uc001ums.3	Q9UBW7	OTTHUMG00000016507	ENST00000382874.2:c.3142A>G	13.37:g.20641000A>G	ENSP00000372327:p.Arg1048Gly	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NDG0|A6NI02|O43212|O43434|O60898|Q5W0Q4|Q5W0T3|Q63HP0|Q8NE39|Q9H0V5|Q9H538|Q9UEU2	Missense_Mutation	SNP	pfam_Znf_MYM,pfam_DUF3504,smart_TRASH	p.R1048G	ENST00000382874.2	37	c.3142	CCDS45016.1	13	.	.	.	.	.	.	.	.	.	.	A	17.09	3.300473	0.60195	.	.	ENSG00000121741	ENST00000382869;ENST00000456228;ENST00000382874;ENST00000382871;ENST00000382870	T	0.20332	2.08	5.06	5.06	0.68205	.	0.214319	0.50627	D	0.000107	T	0.29524	0.0736	L	0.43923	1.385	0.80722	D	1	D	0.55172	0.97	P	0.54346	0.749	T	0.02560	-1.1141	10	0.72032	D	0.01	-21.7861	10.9093	0.47099	0.8428:0.1571:0.0:0.0	.	1048	Q9UBW7	ZMYM2_HUMAN	G	1048;1048;1046;1046;426	ENSP00000372322:R1048G	ENSP00000372322:R1048G	R	+	1	2	ZMYM2	19539000	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	5.282000	0.65615	1.909000	0.55274	0.374000	0.22700	AGA	ZMYM2	-	NULL		0.338	ZMYM2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	ZMYM2	HGNC	protein_coding	OTTHUMT00000044051.2	A	NM_003453		20641000	+1	no_errors	ENST00000382869	ensembl	human	known	70_37	missense	SNP	1.000	G
ZNF101	94039	genome.wustl.edu	37	19	19790233	19790233	+	Silent	SNP	A	A	G			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr19:19790233A>G	ENST00000592502.1	+	4	545	c.435A>G	c.(433-435)caA>caG	p.Q145Q	ZNF101_ENST00000415784.2_Silent_p.Q25Q|ZNF101_ENST00000444249.2_3'UTR			Q8IZC7	ZN101_HUMAN	zinc finger protein 101	145					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(1)|kidney(1)|large_intestine(6)|lung(4)|ovary(2)|prostate(1)	17						AACAGAAACAACATGGGAAAG	0.517																																																	0													94.0	87.0	90.0					19																	19790233		2203	4300	6503	SO:0001819	synonymous_variant	94039			AK097169	CCDS32971.1	19p13.11	2013-01-08	2004-02-10		ENSG00000181896	ENSG00000181896		"""Zinc fingers, C2H2-type"", ""-"""	12881	protein-coding gene	gene with protein product		603983	"""zinc finger protein 101 (Y2)"""			11441184	Standard	XM_005260165		Approved	HZF12, DKFZp570I0164	uc002nni.2	Q8IZC7	OTTHUMG00000167736	ENST00000592502.1:c.435A>G	19.37:g.19790233A>G		Somatic		WXS	Illumina HiSeq	Phase_IV	C9JU83|Q0VDG9	Silent	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.Q145	ENST00000592502.1	37	c.435	CCDS32971.1	19																																																																																			ZNF101	-	NULL		0.517	ZNF101-004	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF101	HGNC	protein_coding	OTTHUMT00000460559.1	A	NM_033204		19790233	+1	no_errors	ENST00000318110	ensembl	human	known	70_37	silent	SNP	0.024	G
ZNF157	7712	genome.wustl.edu	37	X	47272495	47272495	+	Missense_Mutation	SNP	G	G	T			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chrX:47272495G>T	ENST00000377073.3	+	4	1109	c.1023G>T	c.(1021-1023)atG>atT	p.M341I		NM_003446.3	NP_003437.2	P51786	ZN157_HUMAN	zinc finger protein 157	341					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|endometrium(2)|large_intestine(2)|lung(5)|upper_aerodigestive_tract(1)	11						TCTTCCGAATGAAGATGACTC	0.413																																																	0													41.0	38.0	39.0					X																	47272495		2203	4299	6502	SO:0001583	missense	7712			U28687	CCDS14278.1	Xp11.2	2013-01-08	2006-08-22		ENSG00000147117	ENSG00000147117		"""Zinc fingers, C2H2-type"", ""-"""	12942	protein-coding gene	gene with protein product		300024	"""zinc finger protein 157 (HZF22)"""			8586441	Standard	NM_003446		Approved	HZF22	uc004dhr.1	P51786	OTTHUMG00000021443	ENST00000377073.3:c.1023G>T	X.37:g.47272495G>T	ENSP00000366273:p.Met341Ile	Somatic		WXS	Illumina HiSeq	Phase_IV	Q96LE9	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.M341I	ENST00000377073.3	37	c.1023	CCDS14278.1	X	.	.	.	.	.	.	.	.	.	.	G	5.607	0.296755	0.10622	.	.	ENSG00000147117	ENST00000377073	T	0.06933	3.24	3.26	2.28	0.28536	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.03520	0.0101	N	0.04203	-0.255	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.42396	-0.9454	9	0.34782	T	0.22	.	4.174	0.10343	0.1436:0.3444:0.512:0.0	.	341	P51786	ZN157_HUMAN	I	341	ENSP00000366273:M341I	ENSP00000366273:M341I	M	+	3	0	ZNF157	47157439	0.000000	0.05858	0.006000	0.13384	0.998000	0.95712	-0.680000	0.05197	0.607000	0.29982	0.600000	0.82982	ATG	ZNF157	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.413	ZNF157-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF157	HGNC	protein_coding	OTTHUMT00000056415.1	G	NM_003446		47272495	+1	no_errors	ENST00000377073	ensembl	human	known	70_37	missense	SNP	0.003	T
ZNF211	10520	genome.wustl.edu	37	19	58152932	58152932	+	Missense_Mutation	SNP	C	C	T			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr19:58152932C>T	ENST00000347302.3	+	3	1257	c.1078C>T	c.(1078-1080)Cgc>Tgc	p.R360C	ZNF211_ENST00000391703.3_Missense_Mutation_p.R299C|ZNF211_ENST00000299871.5_Missense_Mutation_p.R425C|ZNF211_ENST00000420680.1_Missense_Mutation_p.R364C|ZNF211_ENST00000541801.1_Missense_Mutation_p.R351C|ZNF211_ENST00000544273.1_Missense_Mutation_p.R372C|ZNF211_ENST00000240731.4_Missense_Mutation_p.R373C|ZNF211_ENST00000254182.7_Missense_Mutation_p.R351C	NM_198855.2	NP_942152.1	Q13398	ZN211_HUMAN	zinc finger protein 211	360					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		CATGCAGCATCGCAGAGTTCA	0.463																																																	0													76.0	77.0	77.0					19																	58152932		2203	4300	6503	SO:0001583	missense	10520			U38904	CCDS12956.1, CCDS12957.1, CCDS58686.1, CCDS58687.1, CCDS58688.1, CCDS74468.1	19q13.4	2013-01-08			ENSG00000121417	ENSG00000121417		"""Zinc fingers, C2H2-type"", ""-"""	13003	protein-coding gene	gene with protein product		601856				7633419, 9096115	Standard	NM_006385		Approved	ZNF-25, CH2H2-25	uc031rng.1	Q13398	OTTHUMG00000168012	ENST00000347302.3:c.1078C>T	19.37:g.58152932C>T	ENSP00000339562:p.Arg360Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	B4DH10|B4DLC9|B4E3C9|B9ZVS7|B9ZVW1|F8WDV2|Q05BQ7|Q2TAL7|Q59EG4|Q59G36|Q5EBL6	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.R373C	ENST00000347302.3	37	c.1117	CCDS12957.1	19	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	c|c	12.97|12.97	2.096389|2.096389	0.36952|0.36952	.|.	.|.	ENSG00000121417|ENSG00000121417	ENST00000420680;ENST00000347302;ENST00000254182;ENST00000391703;ENST00000541801;ENST00000299871;ENST00000544273;ENST00000240731|ENST00000407202	T;T;T;T;T;T;T;T|.	0.37915|.	1.17;1.17;3.17;3.17;3.17;1.17;1.17;1.17|.	3.57|3.57	0.7|0.7	0.18099|0.18099	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);|.	.|.	.|.	.|.	.|.	T|T	0.53706|0.53706	0.1813|0.1813	M|M	0.70842|0.70842	2.15|2.15	0.09310|0.09310	N|N	1|1	D;D;D;D;D;D|.	0.76494|.	0.987;0.968;0.997;0.999;0.974;0.974|.	B;B;P;P;P;P|.	0.61592|.	0.431;0.311;0.736;0.891;0.567;0.567|.	T|T	0.48581|0.48581	-0.9023|-0.9023	9|5	0.87932|.	D|.	0|.	.|.	10.8155|10.8155	0.46573|0.46573	0.5339:0.4661:0.0:0.0|0.5339:0.4661:0.0:0.0	.|.	364;372;425;351;360;373|.	Q13398-4;Q13398-3;F8WDV2;Q13398-2;Q13398;B9ZVW1|.	.;.;.;.;ZN211_HUMAN;.|.	C|L	364;360;351;299;351;425;372;373|363	ENSP00000399193:R364C;ENSP00000339562:R360C;ENSP00000254182:R351C;ENSP00000375584:R299C;ENSP00000442601:R351C;ENSP00000299871:R425C;ENSP00000441386:R372C;ENSP00000240731:R373C|.	ENSP00000240731:R373C|.	R|S	+|+	1|2	0|0	ZNF211|ZNF211	62844744|62844744	0.000000|0.000000	0.05858|0.05858	0.001000|0.001000	0.08648|0.08648	0.762000|0.762000	0.43233|0.43233	-0.521000|-0.521000	0.06245|0.06245	0.263000|0.263000	0.21812|0.21812	0.585000|0.585000	0.79938|0.79938	CGC|TCG	ZNF211	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.463	ZNF211-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ZNF211	HGNC	protein_coding	OTTHUMT00000397502.1	C			58152932	+1	no_errors	ENST00000240731	ensembl	human	known	70_37	missense	SNP	0.033	T
ZNF219	51222	genome.wustl.edu	37	14	21559617	21559617	+	Missense_Mutation	SNP	G	G	C			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr14:21559617G>C	ENST00000360947.3	-	4	1928	c.1517C>G	c.(1516-1518)tCt>tGt	p.S506C	ZNF219_ENST00000556101.1_5'Flank|RP11-998D10.7_ENST00000554733.2_lincRNA|ZNF219_ENST00000421093.2_Missense_Mutation_p.S506C|ZNF219_ENST00000451119.2_Missense_Mutation_p.S506C	NM_016423.2	NP_057507.2	Q9P2Y4	ZN219_HUMAN	zinc finger protein 219	506					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of neurotransmitter levels (GO:0001505)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histamine receptor activity (GO:0004969)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.S506C(1)		breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(1)|ovary(1)|prostate(2)	8	all_cancers(95;0.00185)		OV - Ovarian serous cystadenocarcinoma(11;9.86e-11)|Epithelial(56;1.27e-08)|all cancers(55;6.06e-08)	GBM - Glioblastoma multiforme(265;0.0191)		TGAGCGGAAAGATTTTCCGCA	0.612																																																	1	Substitution - Missense(1)	cervix(1)											78.0	86.0	83.0					14																	21559617		2203	4300	6503	SO:0001583	missense	51222			AB015427	CCDS9568.1	14q11	2013-01-08			ENSG00000165804	ENSG00000165804		"""Zinc fingers, C2H2-type"""	13011	protein-coding gene	gene with protein product		605036				10819330	Standard	NM_016423		Approved		uc001vzs.2	Q9P2Y4	OTTHUMG00000029647	ENST00000360947.3:c.1517C>G	14.37:g.21559617G>C	ENSP00000354206:p.Ser506Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	D3DS16|Q53Y57|Q8IYC1|Q9BW28	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2,prints_Histamine_H3_recept	p.S506C	ENST00000360947.3	37	c.1517	CCDS9568.1	14	.	.	.	.	.	.	.	.	.	.	G	25.2	4.614015	0.87359	.	.	ENSG00000165804	ENST00000360947;ENST00000451119;ENST00000421093	T;T;T	0.08282	3.11;3.11;3.11	5.65	5.65	0.86999	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.122041	0.56097	D	0.000025	T	0.10252	0.0251	L	0.31752	0.955	0.40642	D	0.981955	B	0.29646	0.253	B	0.34385	0.181	T	0.12167	-1.0558	10	0.72032	D	0.01	-21.3319	17.2214	0.86958	0.0:0.0:1.0:0.0	.	506	Q9P2Y4	ZN219_HUMAN	C	506	ENSP00000354206:S506C;ENSP00000388558:S506C;ENSP00000392401:S506C	ENSP00000354206:S506C	S	-	2	0	ZNF219	20629457	1.000000	0.71417	0.998000	0.56505	0.968000	0.65278	7.589000	0.82641	2.649000	0.89929	0.555000	0.69702	TCT	ZNF219	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.612	ZNF219-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF219	HGNC	protein_coding	OTTHUMT00000073931.2	G			21559617	-1	no_errors	ENST00000360947	ensembl	human	known	70_37	missense	SNP	1.000	C
ZNF260	339324	genome.wustl.edu	37	19	37005778	37005778	+	Silent	SNP	T	T	A			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr19:37005778T>A	ENST00000523638.1	-	3	1484	c.363A>T	c.(361-363)ccA>ccT	p.P121P	ZNF260_ENST00000592282.1_Silent_p.P121P|ZNF260_ENST00000588993.1_Silent_p.P121P|ZNF260_ENST00000593142.1_Silent_p.P121P	NM_001166036.1|NM_001166037.1|NM_001166038.1	NP_001159508.1|NP_001159509.1|NP_001159510.1	Q3ZCT1	ZN260_HUMAN	zinc finger protein 260	121					multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(8)	15	Esophageal squamous(110;0.162)					TGATGATGGTTGGCATCTGAA	0.413																																																	0													150.0	146.0	148.0					19																	37005778		2203	4300	6503	SO:0001819	synonymous_variant	339324			AK122854	CCDS33003.1	19q13.12	2013-01-08				ENSG00000254004		"""Zinc fingers, C2H2-type"""	13499	protein-coding gene	gene with protein product		613749					Standard	NM_001166036		Approved	ozrf1, Zfp260	uc002oed.2	Q3ZCT1		ENST00000523638.1:c.363A>T	19.37:g.37005778T>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q0VF43	Silent	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.P121	ENST00000523638.1	37	c.363	CCDS33003.1	19																																																																																			ZNF260	-	smart_Znf_C2H2-like		0.413	ZNF260-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF260	HGNC	protein_coding	OTTHUMT00000109564.2	T	NM_001012756		37005778	-1	no_errors	ENST00000523638	ensembl	human	known	70_37	silent	SNP	0.027	A
ZNF233	353355	genome.wustl.edu	37	19	44777426	44777426	+	Missense_Mutation	SNP	A	A	C			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr19:44777426A>C	ENST00000391958.2	+	5	740	c.613A>C	c.(613-615)Aat>Cat	p.N205H	ZNF233_ENST00000592581.1_3'UTR|ZNF233_ENST00000334152.1_Intron|ZNF235_ENST00000589799.1_Intron	NM_181756.2	NP_861421.2	A6NK53	ZN233_HUMAN	zinc finger protein 233	205					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(4)|skin(3)|urinary_tract(1)	20		Prostate(69;0.0435)|all_neural(266;0.226)				TGATGTAAAAAATAAGCTCTG	0.378																																																	0													62.0	60.0	61.0					19																	44777426		2203	4300	6503	SO:0001583	missense	353355			AY166792	CCDS33047.1	19q13.31	2013-01-08				ENSG00000159915		"""Zinc fingers, C2H2-type"", ""-"""	30946	protein-coding gene	gene with protein product						12743021	Standard	NM_001207005		Approved	FLJ38032	uc021uvi.1	A6NK53		ENST00000391958.2:c.613A>C	19.37:g.44777426A>C	ENSP00000375820:p.Asn205His	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RN78|B2RN79|Q86WL8	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.N205H	ENST00000391958.2	37	c.613	CCDS33047.1	19	.	.	.	.	.	.	.	.	.	.	A	17.23	3.337148	0.60963	.	.	ENSG00000159915	ENST00000391958;ENST00000280305	T	0.05447	3.44	3.51	1.32	0.21799	.	.	.	.	.	T	0.08537	0.0212	L	0.58101	1.795	0.09310	N	0.999997	P	0.46277	0.875	P	0.44732	0.459	T	0.24476	-1.0159	9	0.66056	D	0.02	-0.1237	4.1234	0.10116	0.7138:0.0:0.1068:0.1793	.	205	A6NK53	ZN233_HUMAN	H	205;126	ENSP00000375820:N205H	ENSP00000280305:N126H	N	+	1	0	ZNF233	49469266	0.000000	0.05858	0.004000	0.12327	0.868000	0.49771	-0.226000	0.09139	0.079000	0.16929	0.421000	0.28195	AAT	ZNF233	-	NULL		0.378	ZNF233-001	KNOWN	basic|CCDS	protein_coding	ZNF233	HGNC	protein_coding	OTTHUMT00000460737.1	A	NM_181756		44777426	+1	no_errors	ENST00000391958	ensembl	human	known	70_37	missense	SNP	0.019	C
ZNF300	91975	genome.wustl.edu	37	5	150275565	150275565	+	Silent	SNP	G	G	A	rs558818519		TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr5:150275565G>A	ENST00000274599.5	-	6	1656	c.1236C>T	c.(1234-1236)acC>acT	p.T412T	ZNF300_ENST00000418587.2_Silent_p.T376T|ZNF300_ENST00000446148.2_Silent_p.T428T|ZNF300_ENST00000427179.1_3'UTR|ZNF300_ENST00000394226.2_Silent_p.T412T	NM_052860.2	NP_443092.1	Q96RE9	ZN300_HUMAN	zinc finger protein 300	412					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(4)|kidney(3)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(2)	27		Medulloblastoma(196;0.109)|all_hematologic(541;0.131)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			TCCCACATTCGGTACACTCAT	0.453													g|||	1	0.000199681	0.0	0.0	5008	,	,		20183	0.0		0.0	False		,,,				2504	0.001																0													57.0	54.0	55.0					5																	150275565		2203	4299	6502	SO:0001819	synonymous_variant	91975			AF395541	CCDS4311.2, CCDS54939.1, CCDS54940.1	5q33.1	2013-01-08			ENSG00000145908	ENSG00000145908		"""Zinc fingers, C2H2-type"", ""-"""	13091	protein-coding gene	gene with protein product		612429				14746915	Standard	NM_052860		Approved		uc021yfx.1	Q96RE9	OTTHUMG00000130076	ENST00000274599.5:c.1236C>T	5.37:g.150275565G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	A8MY91|B3KU35|B4DU78|F5GWS1|Q06DQ3|Q17RP3|Q5H9N5	Silent	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.T428	ENST00000274599.5	37	c.1284	CCDS4311.2	5																																																																																			ZNF300	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.453	ZNF300-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	ZNF300	HGNC	protein_coding		G	NM_052860		150275565	-1	no_errors	ENST00000446148	ensembl	human	known	70_37	silent	SNP	0.496	A
ZNF302	55900	genome.wustl.edu	37	19	35175900	35175900	+	Nonsense_Mutation	SNP	A	A	T			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr19:35175900A>T	ENST00000446502.2	+	6	1298	c.1090A>T	c.(1090-1092)Aag>Tag	p.K364*	ZNF302_ENST00000457781.2_Nonsense_Mutation_p.K320*|ZNF302_ENST00000505365.2_3'UTR|ZNF302_ENST00000505242.1_Nonsense_Mutation_p.K320*|ZNF302_ENST00000423823.2_Nonsense_Mutation_p.K320*			Q9NR11	ZN302_HUMAN	zinc finger protein 302	399					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			kidney(1)|large_intestine(2)|lung(2)|skin(1)	6	all_lung(56;6.16e-07)|Lung NSC(56;9.71e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0849)			TATATGTGGAAAGGCCTTCAT	0.408																																																	0													60.0	61.0	61.0					19																	35175900		2203	4300	6503	SO:0001587	stop_gained	55900			AF155656	CCDS46042.1, CCDS74330.1, CCDS74331.1, CCDS74332.1, CCDS74333.1	19q13.2	2013-01-08			ENSG00000089335	ENSG00000089335		"""Zinc fingers, C2H2-type"", ""-"""	13848	protein-coding gene	gene with protein product							Standard	NM_018675		Approved	ZNF327, ZNF135L, ZNF140L	uc002nvq.1	Q9NR11	OTTHUMG00000163329	ENST00000446502.2:c.1090A>T	19.37:g.35175900A>T	ENSP00000396379:p.Lys364*	Somatic		WXS	Illumina HiSeq	Phase_IV	Q658J3|Q9BZD8|Q9P0J4	Nonsense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.K320*	ENST00000446502.2	37	c.958		19	.	.	.	.	.	.	.	.	.	.	A	23.4	4.411677	0.83340	.	.	ENSG00000089335	ENST00000457781;ENST00000505242;ENST00000423823;ENST00000446502	.	.	.	0.967	0.967	0.19674	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	6.111	0.20100	1.0:0.0:0.0:0.0	.	.	.	.	X	320;320;320;364	.	ENSP00000405219:K320X	K	+	1	0	ZNF302	39867740	1.000000	0.71417	0.965000	0.40720	0.565000	0.35776	5.804000	0.69135	0.686000	0.31488	0.383000	0.25322	AAG	ZNF302	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.408	ZNF302-004	NOVEL	basic|exp_conf	protein_coding	ZNF302	HGNC	protein_coding	OTTHUMT00000372731.1	A			35175900	+1	no_errors	ENST00000423823	ensembl	human	known	70_37	nonsense	SNP	0.993	T
ZNF33A	7581	genome.wustl.edu	37	10	38344302	38344302	+	Missense_Mutation	SNP	C	C	T	rs144855227		TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr10:38344302C>T	ENST00000458705.2	+	5	1405	c.1247C>T	c.(1246-1248)gCg>gTg	p.A416V	ZNF33A_ENST00000432900.2_Missense_Mutation_p.A423V|ZNF33A_ENST00000469037.2_Intron|ZNF33A_ENST00000307441.9_Missense_Mutation_p.A416V|ZNF33A_ENST00000374618.3_Missense_Mutation_p.A417V			Q06730	ZN33A_HUMAN	zinc finger protein 33A	416					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			cervix(2)|endometrium(2)|large_intestine(8)|liver(2)|lung(27)|ovary(2)|prostate(1)|skin(2)	46						CAATGTAATGCGTGTGGGAAA	0.423													C|||	1	0.000199681	0.0	0.0	5008	,	,		20060	0.0		0.0	False		,,,				2504	0.001																0								C	VAL/ALA,VAL/ALA	1,4405	2.1+/-5.4	0,1,2202	100.0	103.0	102.0		1250,1247	-1.3	0.6	10	dbSNP_134	102	1,8599	1.2+/-3.3	0,1,4299	yes	missense,missense	ZNF33A	NM_006954.1,NM_006974.2	64,64	0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154	probably-damaging,probably-damaging	417/812,416/811	38344302	2,13004	2203	4300	6503	SO:0001583	missense	7581			D31763	CCDS31182.1, CCDS60514.1, CCDS73088.1, CCDS73089.1	10p11.2	2013-01-08	2005-03-18		ENSG00000189180	ENSG00000189180		"""Zinc fingers, C2H2-type"", ""-"""	13096	protein-coding gene	gene with protein product	"""zinc finger and ZAK associated protein with KRAB domain"""	194521	"""zinc finger protein 33a (KOX 31)"", ""zinc finger protein 11A"""	ZNF33, ZNF11A		2014798, 8464732	Standard	NM_006974		Approved	KOX5, KOX31, KIAA0065, FLJ23404, ZZAPK	uc031pui.1	Q06730	OTTHUMG00000017983	ENST00000458705.2:c.1247C>T	10.37:g.38344302C>T	ENSP00000387713:p.Ala416Val	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K9X9|B4E0M8|F6TH33|F8WAJ5|P17013|Q5VZ86	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.A423V	ENST00000458705.2	37	c.1268	CCDS31182.1	10	.	.	.	.	.	.	.	.	.	.	C	3.800	-0.041902	0.07452	2.27E-4	1.16E-4	ENSG00000189180	ENST00000374618;ENST00000432900;ENST00000458705;ENST00000307441	T;T;T;T	0.17054	2.3;2.3;2.3;2.3	2.34	-1.34	0.09143	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.461581	0.16141	N	0.227708	T	0.03095	0.0091	N	0.00368	-1.59	0.09310	N	1	B;B;B	0.19331	0.035;0.027;0.012	B;B;B	0.15870	0.012;0.014;0.004	T	0.37079	-0.9721	10	0.59425	D	0.04	.	2.3451	0.04270	0.3538:0.3295:0.0:0.3167	.	423;416;417	F6TH33;Q06730;F8WAJ5	.;ZN33A_HUMAN;.	V	417;423;416;416	ENSP00000363747:A417V;ENSP00000402467:A423V;ENSP00000387713:A416V;ENSP00000304268:A416V	ENSP00000304268:A416V	A	+	2	0	ZNF33A	38384308	0.000000	0.05858	0.635000	0.29338	0.239000	0.25481	-0.746000	0.04829	-0.073000	0.12842	-0.459000	0.05422	GCG	ZNF33A	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.423	ZNF33A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	ZNF33A	HGNC	protein_coding	OTTHUMT00000047614.1	C	NM_006974		38344302	+1	no_errors	ENST00000432900	ensembl	human	known	70_37	missense	SNP	0.112	T
ZNF343	79175	genome.wustl.edu	37	20	2464233	2464233	+	Silent	SNP	C	C	T			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr20:2464233C>T	ENST00000278772.4	-	6	1861	c.1374G>A	c.(1372-1374)acG>acA	p.T458T	RP4-734P14.4_ENST00000461548.1_Intron	NM_001282495.1|NM_001282496.1|NM_024325.4	NP_001269424.1|NP_001269425.1|NP_077301.4	Q6P1L6	ZN343_HUMAN	zinc finger protein 343	458					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(11)|skin(4)|upper_aerodigestive_tract(1)	25						CTCCAGAGTGCGTCCGCTCGT	0.532																																																	0													113.0	89.0	97.0					20																	2464233		2203	4300	6503	SO:0001819	synonymous_variant	79175			AK096911	CCDS13028.1, CCDS74692.1, CCDS74693.1, CCDS74694.1	20p13	2013-01-08			ENSG00000088876	ENSG00000088876		"""Zinc fingers, C2H2-type"", ""-"""	16017	protein-coding gene	gene with protein product							Standard	NM_001282498		Approved	MGC10715	uc002wge.1	Q6P1L6	OTTHUMG00000031701	ENST00000278772.4:c.1374G>A	20.37:g.2464233C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q5JXU8|Q5JXU9|Q8N8F2|Q96EX8|Q96NA5|Q9BQB0	Silent	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.T458	ENST00000278772.4	37	c.1374	CCDS13028.1	20																																																																																			ZNF343	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.532	ZNF343-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF343	HGNC	protein_coding	OTTHUMT00000077617.1	C	NM_024325		2464233	-1	no_errors	ENST00000278772	ensembl	human	known	70_37	silent	SNP	0.335	T
ZNF358	140467	genome.wustl.edu	37	19	7584411	7584411	+	Missense_Mutation	SNP	G	G	A			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr19:7584411G>A	ENST00000597229.1	+	2	453	c.283G>A	c.(283-285)Gat>Aat	p.D95N	CTD-2207O23.12_ENST00000599312.1_3'UTR|CTD-2207O23.11_ENST00000602083.1_RNA|ZNF358_ENST00000394341.2_Missense_Mutation_p.D95N	NM_018083.4	NP_060553.4	Q9NW07	ZN358_HUMAN	zinc finger protein 358	95					embryonic forelimb morphogenesis (GO:0035115)|neural tube development (GO:0021915)|regulation of transcription, DNA-templated (GO:0006355)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|lung(1)|skin(2)	8						TTTCGACCTCGATCCAGATGT	0.612																																																	0													101.0	87.0	92.0					19																	7584411		2203	4300	6503	SO:0001583	missense	140467			AK001252	CCDS32890.2	19p13.2	2013-01-08			ENSG00000198816	ENSG00000198816		"""Zinc fingers, C2H2-type"""	16838	protein-coding gene	gene with protein product							Standard	NM_018083		Approved	FLJ10390, ZFEND	uc002mgn.2	Q9NW07		ENST00000597229.1:c.283G>A	19.37:g.7584411G>A	ENSP00000472305:p.Asp95Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	Q9BTM7	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.D95N	ENST00000597229.1	37	c.283	CCDS32890.2	19	.	.	.	.	.	.	.	.	.	.	G	14.91	2.676411	0.47886	.	.	ENSG00000198816	ENST00000361576;ENST00000394341	T	0.06687	3.27	3.94	3.94	0.45596	.	.	.	.	.	T	0.07052	0.0179	N	0.24115	0.695	0.09310	N	1	D	0.59357	0.985	P	0.44772	0.46	T	0.17868	-1.0355	9	0.08179	T	0.78	-8.5029	14.3287	0.66537	0.0:0.0:1.0:0.0	.	95	Q9NW07	ZN358_HUMAN	N	95	ENSP00000377873:D95N	ENSP00000354703:D95N	D	+	1	0	ZNF358	7490411	0.153000	0.22777	0.270000	0.24601	0.261000	0.26267	1.929000	0.40114	2.150000	0.67090	0.555000	0.69702	GAT	ZNF358	-	NULL		0.612	ZNF358-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF358	HGNC	protein_coding	OTTHUMT00000316747.1	G			7584411	+1	no_errors	ENST00000394341	ensembl	human	known	70_37	missense	SNP	0.022	A
ZNF425	155054	genome.wustl.edu	37	7	148802620	148802620	+	Missense_Mutation	SNP	G	G	T			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr7:148802620G>T	ENST00000378061.2	-	4	475	c.343C>A	c.(343-345)Cgt>Agt	p.R115S		NM_001001661.2	NP_001001661.1	Q6IV72	ZN425_HUMAN	zinc finger protein 425	115					negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(6)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	50	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00463)			CCATTTAAACGGCAATCCTCT	0.438																																																	0													97.0	91.0	93.0					7																	148802620		2203	4300	6503	SO:0001583	missense	155054			AK056498	CCDS34773.1	7q36.1	2013-01-08			ENSG00000204947	ENSG00000204947		"""Zinc fingers, C2H2-type"", ""-"""	20690	protein-coding gene	gene with protein product							Standard	NM_001001661		Approved		uc003wfj.3	Q6IV72	OTTHUMG00000158971	ENST00000378061.2:c.343C>A	7.37:g.148802620G>T	ENSP00000367300:p.Arg115Ser	Somatic		WXS	Illumina HiSeq	Phase_IV	B3KPM1|Q08AG3	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box,pfscan_Krueppel-associated_box-rel	p.R115S	ENST00000378061.2	37	c.343	CCDS34773.1	7	.	.	.	.	.	.	.	.	.	.	G	9.579	1.123077	0.20959	.	.	ENSG00000204947	ENST00000378061;ENST00000483014	T;T	0.06687	3.27;5.03	2.75	2.75	0.32379	.	.	.	.	.	T	0.04137	0.0115	N	0.08118	0	0.09310	N	1	B	0.11235	0.004	B	0.08055	0.003	T	0.39840	-0.9594	9	0.09338	T	0.73	.	10.9216	0.47167	0.0:0.0:1.0:0.0	.	115	Q6IV72	ZN425_HUMAN	S	115;137	ENSP00000367300:R115S;ENSP00000420379:R137S	ENSP00000367300:R115S	R	-	1	0	ZNF425	148433553	0.076000	0.21285	0.016000	0.15963	0.011000	0.07611	1.228000	0.32588	1.364000	0.46038	0.655000	0.94253	CGT	ZNF425	-	NULL		0.438	ZNF425-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF425	HGNC	protein_coding	OTTHUMT00000352726.1	G	XM_088140		148802620	-1	no_errors	ENST00000378061	ensembl	human	known	70_37	missense	SNP	0.013	T
ZNF441	126068	genome.wustl.edu	37	19	11891821	11891821	+	Silent	SNP	T	T	C			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr19:11891821T>C	ENST00000357901.4	+	4	1284	c.1182T>C	c.(1180-1182)tgT>tgC	p.C394C	ZNF441_ENST00000454339.2_Silent_p.C327C	NM_152355.2	NP_689568.2	Q8N8Z8	ZN441_HUMAN	zinc finger protein 441	394					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						CCTATAAATGTGAATGTGGGA	0.388																																																	0													59.0	61.0	60.0					19																	11891821		2203	4300	6503	SO:0001819	synonymous_variant	126068			AK095956	CCDS12266.2	19p13.13	2013-01-08			ENSG00000197044	ENSG00000197044		"""Zinc fingers, C2H2-type"", ""-"""	20875	protein-coding gene	gene with protein product							Standard	NM_152355		Approved	FLJ38637	uc010dyj.3	Q8N8Z8	OTTHUMG00000154449	ENST00000357901.4:c.1182T>C	19.37:g.11891821T>C		Somatic		WXS	Illumina HiSeq	Phase_IV		Silent	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.C394	ENST00000357901.4	37	c.1182	CCDS12266.2	19																																																																																			ZNF441	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.388	ZNF441-003	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF441	HGNC	protein_coding	OTTHUMT00000335273.3	T	NM_152355		11891821	+1	no_errors	ENST00000357901	ensembl	human	known	70_37	silent	SNP	0.138	C
ZNF433	163059	genome.wustl.edu	37	19	12127369	12127369	+	Missense_Mutation	SNP	C	C	T			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr19:12127369C>T	ENST00000344980.6	-	4	483	c.313G>A	c.(313-315)Gaa>Aaa	p.E105K	CTD-2006C1.2_ENST00000406892.2_RNA|CTD-2006C1.2_ENST00000495324.1_RNA|ZNF433_ENST00000419886.2_Missense_Mutation_p.E70K|CTD-2006C1.2_ENST00000476474.1_RNA	NM_001080411.1	NP_001073880.1	Q8N7K0	ZN433_HUMAN	zinc finger protein 433	105					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(1)|prostate(1)|skin(1)	14						ACACTGCTTTCGCATGATTTT	0.413																																																	0													93.0	94.0	94.0					19																	12127369		2172	4286	6458	SO:0001583	missense	163059			AK098300	CCDS45983.1	19p13.13	2013-01-08			ENSG00000197647	ENSG00000197647		"""Zinc fingers, C2H2-type"", ""-"""	20811	protein-coding gene	gene with protein product							Standard	NM_001080411		Approved	FLJ40981	uc002msy.1	Q8N7K0	OTTHUMG00000156427	ENST00000344980.6:c.313G>A	19.37:g.12127369C>T	ENSP00000339767:p.Glu105Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q86VX3	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.E105K	ENST00000344980.6	37	c.313	CCDS45983.1	19	.	.	.	.	.	.	.	.	.	.	C	7.439	0.640305	0.14386	.	.	ENSG00000197647	ENST00000419886;ENST00000344980;ENST00000550507;ENST00000455504;ENST00000552904;ENST00000478765	T;T;T;T;T;T	0.14144	3.29;3.44;2.53;2.53;2.53;5.07	1.2	-1.3	0.09259	.	.	.	.	.	T	0.13713	0.0332	L	0.47716	1.5	0.09310	N	1	D	0.65815	0.995	P	0.49799	0.622	T	0.25467	-1.0131	9	0.18710	T	0.47	.	6.0079	0.19557	0.0:0.6621:0.0:0.3379	.	105	Q8N7K0	ZN433_HUMAN	K	70;105;102;116;70;116	ENSP00000393416:E70K;ENSP00000339767:E105K;ENSP00000448099:E102K;ENSP00000414857:E116K;ENSP00000448233:E70K;ENSP00000447951:E116K	ENSP00000339767:E105K	E	-	1	0	ZNF433	11988369	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.407000	0.07178	-0.419000	0.07439	-1.225000	0.01585	GAA	ZNF433	-	NULL		0.413	ZNF433-005	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF433	HGNC	protein_coding	OTTHUMT00000403716.1	C	NM_152602		12127369	-1	no_errors	ENST00000344980	ensembl	human	known	70_37	missense	SNP	0.000	T
ZNF462	58499	genome.wustl.edu	37	9	109701337	109701337	+	Missense_Mutation	SNP	C	C	T			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr9:109701337C>T	ENST00000277225.5	+	7	6665	c.6376C>T	c.(6376-6378)Cac>Tac	p.H2126Y	ZNF462_ENST00000441147.2_Missense_Mutation_p.H1032Y|ZNF462_ENST00000457913.1_Missense_Mutation_p.H2186Y|ZNF462_ENST00000542028.1_Missense_Mutation_p.H83Y			Q96JM2	ZN462_HUMAN	zinc finger protein 462	2126					chromatin organization (GO:0006325)|negative regulation of DNA binding (GO:0043392)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						CTCACACTCCCACCACTCCTC	0.552																																																	0													179.0	171.0	174.0					9																	109701337		2203	4300	6503	SO:0001583	missense	58499			AB058706	CCDS35096.1	9q31.3	2008-02-05			ENSG00000148143	ENSG00000148143		"""Zinc fingers, C2H2-type"""	21684	protein-coding gene	gene with protein product							Standard	NM_021224		Approved	DKFZP762N2316, KIAA1803, Zfp462	uc004bcz.3	Q96JM2	OTTHUMG00000020438	ENST00000277225.5:c.6376C>T	9.37:g.109701337C>T	ENSP00000277225:p.His2126Tyr	Somatic		WXS	Illumina HiSeq	Phase_IV	Q5T0T4|Q8N408	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.H2186Y	ENST00000277225.5	37	c.6556	CCDS35096.1	9	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.23|16.23	3.064410|3.064410	0.55432|0.55432	.|.	.|.	ENSG00000148143|ENSG00000148143	ENST00000277225;ENST00000457913;ENST00000374686;ENST00000441147;ENST00000542028|ENST00000427098	T;T;T;T;T|.	0.15487|.	3.43;3.88;3.99;3.99;2.42|.	5.71|5.71	5.71|5.71	0.89125|0.89125	.|.	0.186947|.	0.48286|.	D|.	0.000196|.	T|T	0.52273|0.52273	0.1724|0.1724	N|N	0.14661|0.14661	0.345|0.345	0.47659|0.47659	D|D	0.999487|0.999487	D;D;D|.	0.59357|.	0.974;0.985;0.963|.	P;P;P|.	0.49999|.	0.628;0.622;0.527|.	T|T	0.45977|0.45977	-0.9224|-0.9224	10|5	0.02654|.	T|.	1|.	.|.	19.8603|19.8603	0.96781|0.96781	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	2186;27;2126|.	Q96JM2-3;Q5T0T2;Q96JM2|.	.;.;ZN462_HUMAN|.	Y|L	2126;2186;1069;1032;83|27	ENSP00000277225:H2126Y;ENSP00000414570:H2186Y;ENSP00000363818:H1069Y;ENSP00000397306:H1032Y;ENSP00000439771:H83Y|.	ENSP00000277225:H2126Y|.	H|P	+|+	1|2	0|0	ZNF462|ZNF462	108741158|108741158	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.762000|0.762000	0.43233|0.43233	3.648000|3.648000	0.54410|0.54410	2.681000|2.681000	0.91329|0.91329	0.655000|0.655000	0.94253|0.94253	CAC|CCA	ZNF462	-	NULL		0.552	ZNF462-001	KNOWN	basic|CCDS	protein_coding	ZNF462	HGNC	protein_coding	OTTHUMT00000053532.2	C	NM_021224		109701337	+1	no_errors	ENST00000457913	ensembl	human	known	70_37	missense	SNP	1.000	T
ZNF521	25925	genome.wustl.edu	37	18	22806010	22806010	+	Silent	SNP	T	T	A			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr18:22806010T>A	ENST00000361524.3	-	4	2020	c.1872A>T	c.(1870-1872)ggA>ggT	p.G624G	ZNF521_ENST00000579111.1_5'Flank|ZNF521_ENST00000538137.2_Silent_p.G624G|ZNF521_ENST00000584787.1_Silent_p.G404G	NM_015461.2	NP_056276.1	Q96K83	ZN521_HUMAN	zinc finger protein 521	624					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|protein domain specific binding (GO:0019904)			NS(1)|breast(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(21)|lung(97)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	149	all_cancers(21;0.0025)|all_epithelial(16;3.62e-05)|Ovarian(20;0.0991)					CAGGTGCACCTCCTACTGCCT	0.473			T	PAX5	ALL																																			Dom	yes		18	18q11.2	25925	zinc finger protein 521		L	0													120.0	111.0	114.0					18																	22806010		2203	4300	6503	SO:0001819	synonymous_variant	25925			AK027354	CCDS32806.1	18q11.2	2013-01-08				ENSG00000198795		"""Zinc fingers, C2H2-type"""	24605	protein-coding gene	gene with protein product	"""early hematopoietic zinc finger"""	610974				11984006, 14630787	Standard	NM_015461		Approved	EHZF, Evi3	uc002kvk.2	Q96K83		ENST00000361524.3:c.1872A>T	18.37:g.22806010T>A		Somatic		WXS	Illumina HiSeq	Phase_IV	A3QVP7|B0YJB7|Q8IXI0|Q8TES6|Q9C065|Q9HAL5|Q9UFK4	Silent	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.G624	ENST00000361524.3	37	c.1872	CCDS32806.1	18																																																																																			ZNF521	-	NULL		0.473	ZNF521-001	KNOWN	overlapping_uORF|basic|appris_principal|CCDS	protein_coding	ZNF521	HGNC	protein_coding	OTTHUMT00000446781.2	T	NM_015461		22806010	-1	no_errors	ENST00000361524	ensembl	human	known	70_37	silent	SNP	0.598	A
ZNF530	348327	genome.wustl.edu	37	19	58117823	58117823	+	Silent	SNP	C	C	T			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr19:58117823C>T	ENST00000332854.6	+	3	1150	c.930C>T	c.(928-930)ctC>ctT	p.L310L	ZNF530_ENST00000597864.1_Intron	NM_020880.3	NP_065931.3	Q6P9A1	ZN530_HUMAN	zinc finger protein 530	310					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(6)|skin(1)	20		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0443)|Breast(46;0.0848)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		TATCTGTCCTCATTCAACATC	0.463																																																	0													112.0	94.0	100.0					19																	58117823		2203	4300	6503	SO:0001819	synonymous_variant	348327			AK096831	CCDS12955.1	19q13.43	2013-01-08				ENSG00000183647		"""Zinc fingers, C2H2-type"", ""-"""	29297	protein-coding gene	gene with protein product						10819331	Standard	NM_020880		Approved	KIAA1508	uc002qpk.2	Q6P9A1		ENST00000332854.6:c.930C>T	19.37:g.58117823C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	O43340|Q9P220	Silent	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.L310	ENST00000332854.6	37	c.930	CCDS12955.1	19																																																																																			ZNF530	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.463	ZNF530-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF530	HGNC	protein_coding	OTTHUMT00000466797.1	C	NM_020880		58117823	+1	no_errors	ENST00000332854	ensembl	human	known	70_37	silent	SNP	0.000	T
ZNF569	148266	genome.wustl.edu	37	19	37958831	37958831	+	5'Flank	SNP	G	G	C			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr19:37958831G>C	ENST00000316950.6	-	0	0				ZNF570_ENST00000586475.1_Intron|ZNF569_ENST00000592490.1_5'Flank|ZNF570_ENST00000388801.3_5'Flank|ZNF569_ENST00000591073.1_Intron|ZNF570_ENST00000330173.1_5'Flank|ZNF569_ENST00000392149.2_5'Flank	NM_152484.2	NP_689697.2	Q5MCW4	ZN569_HUMAN	zinc finger protein 569						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(5)|endometrium(4)|large_intestine(16)|lung(11)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	40			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TCTCGATTGTGAGTGTGACAG	0.453																																																	0																																										SO:0001631	upstream_gene_variant	148268			AL833408	CCDS12503.1	19q13.12	2013-09-20			ENSG00000196437	ENSG00000196437		"""Zinc fingers, C2H2-type"", ""-"""	24737	protein-coding gene	gene with protein product		613904				12477932	Standard	NM_152484		Approved	FLJ32053, ZAP1	uc002ogi.3	Q5MCW4	OTTHUMG00000048172		19.37:g.37958831G>C	Exception_encountered	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K1S2|Q15925|Q17RR6|Q96MQ2	Silent	SNP	NULL	p.V13	ENST00000316950.6	37	c.39	CCDS12503.1	19																																																																																			ZNF570	-	NULL		0.453	ZNF569-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF570	HGNC	protein_coding	OTTHUMT00000109594.2	G	NM_152484		37958831	+1	no_errors	ENST00000587363	ensembl	human	known	70_37	silent	SNP	0.007	C
ZNF570	148268	genome.wustl.edu	37	19	37961248	37961248	+	5'UTR	SNP	G	G	A			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr19:37961248G>A	ENST00000330173.1	+	0	521				ZNF570_ENST00000586475.1_Missense_Mutation_p.E54K|ZNF570_ENST00000388801.3_Intron|ZNF569_ENST00000591073.1_5'Flank|ZNF569_ENST00000316950.6_5'Flank	NM_144694.1	NP_653295.1	Q96NI8	ZN570_HUMAN	zinc finger protein 570						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|kidney(3)|large_intestine(6)|lung(12)|ovary(1)|prostate(1)|skin(1)	27			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			GAGCCAGGAGGAAGAAAGAAT	0.448																																																	0													169.0	161.0	164.0					19																	37961248		2203	4300	6503	SO:0001623	5_prime_UTR_variant	148268			AK055353	CCDS12504.1, CCDS74355.1	19q13.12	2013-09-20			ENSG00000171827	ENSG00000171827		"""Zinc fingers, C2H2-type"", ""-"""	26416	protein-coding gene	gene with protein product							Standard	XM_005258567		Approved	FLJ30791	uc002ogk.1	Q96NI8	OTTHUMG00000048176	ENST00000330173.1:c.-9G>A	19.37:g.37961248G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	A1L472|B4DMP1	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.E54K	ENST00000330173.1	37	c.160	CCDS12504.1	19																																																																																			ZNF570	-	NULL		0.448	ZNF570-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF570	HGNC	protein_coding	OTTHUMT00000109600.1	G	NM_144694		37961248	+1	no_errors	ENST00000586475	ensembl	human	putative	70_37	missense	SNP	0.020	A
AC006116.24	0	genome.wustl.edu	37	19	56889033	56889033	+	RNA	SNP	G	G	A			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr19:56889033G>A	ENST00000591836.1	-	0	0				ZNF542_ENST00000490123.1_RNA																							GTCCTTCAGCGCCCATTCTTC	0.433																																																	0																																												147947																															19.37:g.56889033G>A		Somatic		WXS	Illumina HiSeq	Phase_IV		RNA	SNP	-	NULL	ENST00000591836.1	37	NULL		19																																																																																			ZNF542	-	-		0.433	AC006116.24-001	KNOWN	basic	sense_intronic	ZNF542	HGNC	sense_intronic	OTTHUMT00000459747.1	G			56889033	+1	no_errors	ENST00000467807	ensembl	human	known	70_37	rna	SNP	0.000	A
ZNF530	348327	genome.wustl.edu	37	19	58117826	58117826	+	Silent	SNP	T	T	A			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr19:58117826T>A	ENST00000332854.6	+	3	1153	c.933T>A	c.(931-933)atT>atA	p.I311I	ZNF530_ENST00000597864.1_Intron	NM_020880.3	NP_065931.3	Q6P9A1	ZN530_HUMAN	zinc finger protein 530	311					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(6)|skin(1)	20		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0443)|Breast(46;0.0848)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0257)		CTGTCCTCATTCAACATCAAC	0.468																																																	0													113.0	95.0	101.0					19																	58117826		2203	4300	6503	SO:0001819	synonymous_variant	348327			AK096831	CCDS12955.1	19q13.43	2013-01-08				ENSG00000183647		"""Zinc fingers, C2H2-type"", ""-"""	29297	protein-coding gene	gene with protein product						10819331	Standard	NM_020880		Approved	KIAA1508	uc002qpk.2	Q6P9A1		ENST00000332854.6:c.933T>A	19.37:g.58117826T>A		Somatic		WXS	Illumina HiSeq	Phase_IV	O43340|Q9P220	Silent	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.I311	ENST00000332854.6	37	c.933	CCDS12955.1	19																																																																																			ZNF530	-	smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.468	ZNF530-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF530	HGNC	protein_coding	OTTHUMT00000466797.1	T	NM_020880		58117826	+1	no_errors	ENST00000332854	ensembl	human	known	70_37	silent	SNP	0.001	A
ZNF684	127396	genome.wustl.edu	37	1	41012967	41012967	+	Silent	SNP	G	G	A			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr1:41012967G>A	ENST00000372699.3	+	5	1223	c.972G>A	c.(970-972)gaG>gaA	p.E324E	ZNF684_ENST00000493756.1_3'UTR	NM_152373.3	NP_689586.3	Q5T5D7	ZN684_HUMAN	zinc finger protein 684	324					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(2)|kidney(2)|lung(3)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	13	Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	OV - Ovarian serous cystadenocarcinoma(33;5.42e-18)			ATACAGGAGAGAAACCTTACA	0.418																																																	0													102.0	107.0	105.0					1																	41012967		2203	4300	6503	SO:0001819	synonymous_variant	127396				CCDS454.1	1p34.2	2013-01-08			ENSG00000117010	ENSG00000117010		"""Zinc fingers, C2H2-type"", ""-"""	28418	protein-coding gene	gene with protein product	"""hypothetical protein MGC27466"""					12477932	Standard	NM_152373		Approved	MGC27466	uc001cft.2	Q5T5D7	OTTHUMG00000007359	ENST00000372699.3:c.972G>A	1.37:g.41012967G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q2NKY4	Silent	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.E324	ENST00000372699.3	37	c.972	CCDS454.1	1																																																																																			ZNF684	-	pfscan_Znf_C2H2		0.418	ZNF684-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF684	HGNC	protein_coding	OTTHUMT00000019260.3	G	NM_152373		41012967	+1	no_errors	ENST00000372699	ensembl	human	known	70_37	silent	SNP	1.000	A
ZNF697	90874	genome.wustl.edu	37	1	120166704	120166704	+	Missense_Mutation	SNP	G	G	A			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr1:120166704G>A	ENST00000421812.2	-	3	381	c.262C>T	c.(262-264)Cgt>Tgt	p.R88C		NM_001080470.1	NP_001073939.1	Q5TEC3	ZN697_HUMAN	zinc finger protein 697	88					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			ovary(2)	2	all_neural(166;0.219)	all_lung(203;3.66e-05)|Lung NSC(69;0.000202)|all_epithelial(167;0.0266)		Lung(183;0.011)|LUSC - Lung squamous cell carcinoma(189;0.0577)		TCTTCCCCACGGACAGAAACG	0.547																																																	0													55.0	61.0	59.0					1																	120166704		2073	4211	6284	SO:0001583	missense	90874			AK027019, BC033126	CCDS44202.1	1p12	2013-01-08			ENSG00000143067	ENSG00000143067		"""Zinc fingers, C2H2-type"""	32034	protein-coding gene	gene with protein product							Standard	NM_001080470		Approved	MGC45731	uc001ehy.1	Q5TEC3	OTTHUMG00000012962	ENST00000421812.2:c.262C>T	1.37:g.120166704G>A	ENSP00000396857:p.Arg88Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q96IT2	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.R88C	ENST00000421812.2	37	c.262	CCDS44202.1	1	.	.	.	.	.	.	.	.	.	.	G	4.505	0.093694	0.08632	.	.	ENSG00000143067	ENST00000421812	T	0.12774	2.65	4.62	3.63	0.41609	.	.	.	.	.	T	0.03348	0.0097	L	0.27053	0.805	0.09310	N	1	D	0.53885	0.963	B	0.33799	0.17	T	0.30621	-0.9972	9	0.49607	T	0.09	.	12.164	0.54119	0.0:0.1741:0.8259:0.0	.	88	Q5TEC3	ZN697_HUMAN	C	88	ENSP00000396857:R88C	ENSP00000396857:R88C	R	-	1	0	ZNF697	119968227	.	.	0.008000	0.14137	0.005000	0.04900	.	.	2.302000	0.77476	0.462000	0.41574	CGT	ZNF697	-	NULL		0.547	ZNF697-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF697	HGNC	protein_coding	OTTHUMT00000036349.3	G	XM_371286		120166704	-1	no_errors	ENST00000421812	ensembl	human	known	70_37	missense	SNP	0.002	A
ZNF761	388561	genome.wustl.edu	37	19	53958029	53958029	+	RNA	SNP	G	G	A			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr19:53958029G>A	ENST00000454407.1	+	0	721							Q86XN6	ZN761_HUMAN	zinc finger protein 761						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	30				GBM - Glioblastoma multiforme(134;0.00786)		CTACCAGGATGTTGATAAAGA	0.388																																																	0													80.0	79.0	80.0					19																	53958029		2203	4300	6503			388561			AB107355		19q13.42	2007-10-05	2006-08-11	2006-08-11	ENSG00000160336	ENSG00000160336		"""Zinc fingers, C2H2-type"""	23179	protein-coding gene	gene with protein product							Standard	NM_001008401		Approved	KIAA2033, FLJ16231, FLJ35333	uc010eqp.3	Q86XN6	OTTHUMG00000156999		19.37:g.53958029G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q6ZNB9	RNA	SNP	-	NULL	ENST00000454407.1	37	NULL		19																																																																																			ZNF761	-	-		0.388	ZNF761-203	KNOWN	basic	processed_transcript	ZNF761	HGNC	processed_transcript		G	NM_001008401		53958029	+1	no_errors	ENST00000334095	ensembl	human	known	70_37	rna	SNP	0.011	A
ZNF773	374928	genome.wustl.edu	37	19	58018541	58018541	+	Missense_Mutation	SNP	G	G	C			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr19:58018541G>C	ENST00000282292.4	+	4	1218	c.1078G>C	c.(1078-1080)Gag>Cag	p.E360Q	ZNF773_ENST00000593916.1_Intron|ZNF773_ENST00000599847.1_Intron|ZNF773_ENST00000598770.1_Missense_Mutation_p.E359Q	NM_198542.1	NP_940944.1	Q6PK81	ZN773_HUMAN	zinc finger protein 773	360					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	22		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0254)		AAGGCCTTATGAGTGCAGTGA	0.413																																																	0													108.0	111.0	110.0					19																	58018541		2203	4300	6503	SO:0001583	missense	374928			BC005167	CCDS33134.1	19q13.43	2013-01-08	2006-12-15	2006-12-15		ENSG00000152439		"""Zinc fingers, C2H2-type"", ""-"""	30487	protein-coding gene	gene with protein product			"""zinc finger protein 419B"""	ZNF419B		12477932	Standard	NM_198542		Approved	MGC4728	uc002qox.3	Q6PK81		ENST00000282292.4:c.1078G>C	19.37:g.58018541G>C	ENSP00000282292:p.Glu360Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	Q96DL8	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.E360Q	ENST00000282292.4	37	c.1078	CCDS33134.1	19	.	.	.	.	.	.	.	.	.	.	G	6.122	0.390698	0.11581	.	.	ENSG00000152439	ENST00000282292	T	0.20200	2.09	1.24	0.156	0.14910	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.14313	0.0346	N	0.04355	-0.22	0.09310	N	1	P;B	0.52316	0.952;0.338	P;B	0.56127	0.792;0.158	T	0.10800	-1.0614	9	0.62326	D	0.03	.	2.615	0.04901	0.376:0.2647:0.3593:0.0	.	359;360	Q6PK81-2;Q6PK81	.;ZN773_HUMAN	Q	360	ENSP00000282292:E360Q	ENSP00000282292:E360Q	E	+	1	0	ZNF773	62710353	0.000000	0.05858	0.017000	0.16124	0.701000	0.40568	-0.949000	0.03893	0.094000	0.17404	0.305000	0.20034	GAG	ZNF773	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.413	ZNF773-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZNF773	HGNC	protein_coding	OTTHUMT00000466475.1	G	NM_198542		58018541	+1	no_errors	ENST00000282292	ensembl	human	known	70_37	missense	SNP	0.004	C
ZNF775	285971	genome.wustl.edu	37	7	150094608	150094608	+	Missense_Mutation	SNP	C	C	T			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr7:150094608C>T	ENST00000329630.5	+	3	1146	c.1039C>T	c.(1039-1041)Cgc>Tgc	p.R347C		NM_173680.3	NP_775951.2	Q96BV0	ZN775_HUMAN	zinc finger protein 775	347					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|liver(1)|lung(7)|skin(1)	11	Ovarian(565;0.183)|Melanoma(164;0.226)		OV - Ovarian serous cystadenocarcinoma(82;0.0173)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CCGCGGCTTCCGCCAGAAGCA	0.741																																																	0													4.0	6.0	5.0					7																	150094608		1893	3832	5725	SO:0001583	missense	285971			BC038111	CCDS43678.1	7q36.1	2013-01-08			ENSG00000196456	ENSG00000196456		"""Zinc fingers, C2H2-type"""	28501	protein-coding gene	gene with protein product						12477932	Standard	NM_173680		Approved	MGC33584	uc003whf.1	Q96BV0	OTTHUMG00000158324	ENST00000329630.5:c.1039C>T	7.37:g.150094608C>T	ENSP00000330838:p.Arg347Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q8IY24	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.R347C	ENST00000329630.5	37	c.1039	CCDS43678.1	7	.	.	.	.	.	.	.	.	.	.	C	14.93	2.682713	0.47991	.	.	ENSG00000196456	ENST00000329630	T	0.18502	2.21	3.78	2.85	0.33270	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.29028	0.0721	L	0.46614	1.455	0.37592	D	0.920211	D	0.89917	1.0	D	0.73380	0.98	T	0.06303	-1.0834	8	.	.	.	.	8.0762	0.30718	0.2418:0.7582:0.0:0.0	.	347	Q96BV0	ZN775_HUMAN	C	347	ENSP00000330838:R347C	.	R	+	1	0	ZNF775	149725541	0.000000	0.05858	1.000000	0.80357	0.832000	0.47134	-0.436000	0.06922	0.729000	0.32403	0.313000	0.20887	CGC	ZNF775	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.741	ZNF775-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF775	HGNC	protein_coding	OTTHUMT00000350679.1	C	NM_173680		150094608	+1	no_errors	ENST00000329630	ensembl	human	known	70_37	missense	SNP	0.958	T
ZNF793	390927	genome.wustl.edu	37	19	38024380	38024380	+	Intron	SNP	C	C	G			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr19:38024380C>G	ENST00000587143.1	+	5	473				ZNF793_ENST00000588578.1_Intron|ZNF793_ENST00000589319.1_Intron|ZNF793_ENST00000445217.1_Intron|ZNF793_ENST00000542455.1_Intron|ZNF793_ENST00000587986.1_Missense_Mutation_p.L105V			Q6ZN11	ZN793_HUMAN	zinc finger protein 793						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			kidney(2)|lung(1)	3			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			GCATTCTTCTCTTAAAAGCCT	0.493																																					Melanoma(44;400 1431 1499 19093)												0																																										SO:0001627	intron_variant	390927			AK131417	CCDS46062.1	19q13.12	2013-01-08				ENSG00000188227		"""Zinc fingers, C2H2-type"", ""-"""	33115	protein-coding gene	gene with protein product							Standard	NM_001013659		Approved		uc010efm.3	Q6ZN11		ENST00000587143.1:c.238+75C>G	19.37:g.38024380C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	E9PGN4|Q7Z3Q9	Missense_Mutation	SNP	pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box	p.L105V	ENST00000587143.1	37	c.313	CCDS46062.1	19																																																																																			ZNF793	-	NULL		0.493	ZNF793-006	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF793	HGNC	protein_coding	OTTHUMT00000458621.1	C	NM_001013659		38024380	+1	no_errors	ENST00000587986	ensembl	human	putative	70_37	missense	SNP	0.000	G
ZNF808	388558	genome.wustl.edu	37	19	53058742	53058742	+	Missense_Mutation	SNP	G	G	A			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr19:53058742G>A	ENST00000359798.4	+	5	2753	c.2573G>A	c.(2572-2574)cGc>cAc	p.R858H		NM_001039886.3	NP_001034975.2	Q8N4W9	ZN808_HUMAN	zinc finger protein 808	858					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(8)|kidney(3)|lung(12)|urinary_tract(1)	24				OV - Ovarian serous cystadenocarcinoma(262;0.00501)|GBM - Glioblastoma multiforme(134;0.0213)		GTTTTCAGTCGCAAATCACAC	0.378																																																	0													86.0	90.0	88.0					19																	53058742		2203	4300	6503	SO:0001583	missense	388558			CR749856	CCDS46167.1	19q13.41	2013-01-08			ENSG00000198482	ENSG00000198482		"""Zinc fingers, C2H2-type"", ""-"""	33230	protein-coding gene	gene with protein product							Standard	NM_001039886		Approved		uc010epq.1	Q8N4W9	OTTHUMG00000158230	ENST00000359798.4:c.2573G>A	19.37:g.53058742G>A	ENSP00000352846:p.Arg858His	Somatic		WXS	Illumina HiSeq	Phase_IV	Q68CN7	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.R858H	ENST00000359798.4	37	c.2573	CCDS46167.1	19	.	.	.	.	.	.	.	.	.	.	.	1.329	-0.597365	0.03771	.	.	ENSG00000198482	ENST00000359798	T	0.07327	3.2	1.51	-1.74	0.08056	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.03915	0.0110	L	0.28192	0.835	0.09310	N	1	B	0.28400	0.21	B	0.13407	0.009	T	0.45071	-0.9286	9	0.15066	T	0.55	.	2.9619	0.05895	0.6174:0.0:0.1693:0.2133	.	858	Q8N4W9	ZN808_HUMAN	H	858	ENSP00000352846:R858H	ENSP00000352846:R858H	R	+	2	0	ZNF808	57750554	0.000000	0.05858	0.000000	0.03702	0.048000	0.14542	-5.190000	0.00143	-0.108000	0.12066	0.205000	0.17691	CGC	ZNF808	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.378	ZNF808-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF808	HGNC	protein_coding	OTTHUMT00000350447.3	G	NM_001039886		53058742	+1	no_errors	ENST00000359798	ensembl	human	known	70_37	missense	SNP	0.000	A
ZNRF4	148066	genome.wustl.edu	37	19	5456111	5456111	+	Silent	SNP	G	G	A			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr19:5456111G>A	ENST00000222033.4	+	1	686	c.609G>A	c.(607-609)ttG>ttA	p.L203L		NM_181710.3	NP_859061.3	Q8WWF5	ZNRF4_HUMAN	zinc and ring finger 4	203	PA.					cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			NS(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16				UCEC - Uterine corpus endometrioid carcinoma (162;0.0002)		ACGAGGACTTGAGGGGCCAGA	0.667																																																	0													76.0	76.0	76.0					19																	5456111		2164	4262	6426	SO:0001819	synonymous_variant	148066			AK098722	CCDS42475.1	19p13.3	2013-01-09				ENSG00000105428		"""RING-type (C3HC4) zinc fingers"""	17726	protein-coding gene	gene with protein product		612063					Standard	NM_181710		Approved	spzn, Ssrzf1, RNF204	uc002mca.4	Q8WWF5		ENST00000222033.4:c.609G>A	19.37:g.5456111G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	A8K886|O75866	Silent	SNP	pfam_Protease-assoc_domain,pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING	p.L203	ENST00000222033.4	37	c.609	CCDS42475.1	19																																																																																			ZNRF4	-	pfam_Protease-assoc_domain		0.667	ZNRF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNRF4	HGNC	protein_coding	OTTHUMT00000450924.1	G	NM_181710		5456111	+1	no_errors	ENST00000222033	ensembl	human	known	70_37	silent	SNP	0.001	A
ZNRF4	148066	genome.wustl.edu	37	19	5456482	5456482	+	Missense_Mutation	SNP	G	G	A			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr19:5456482G>A	ENST00000222033.4	+	1	1057	c.980G>A	c.(979-981)tGc>tAc	p.C327Y		NM_181710.3	NP_859061.3	Q8WWF5	ZNRF4_HUMAN	zinc and ring finger 4	327						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			NS(1)|kidney(2)|large_intestine(5)|lung(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16				UCEC - Uterine corpus endometrioid carcinoma (162;0.0002)		ATCCTGCCCTGCTCCCACACC	0.622																																																	0													112.0	129.0	124.0					19																	5456482		2126	4223	6349	SO:0001583	missense	148066			AK098722	CCDS42475.1	19p13.3	2013-01-09				ENSG00000105428		"""RING-type (C3HC4) zinc fingers"""	17726	protein-coding gene	gene with protein product		612063					Standard	NM_181710		Approved	spzn, Ssrzf1, RNF204	uc002mca.4	Q8WWF5		ENST00000222033.4:c.980G>A	19.37:g.5456482G>A	ENSP00000222033:p.Cys327Tyr	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K886|O75866	Missense_Mutation	SNP	pfam_Protease-assoc_domain,pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING	p.C327Y	ENST00000222033.4	37	c.980	CCDS42475.1	19	.	.	.	.	.	.	.	.	.	.	G	16.12	3.033516	0.54896	.	.	ENSG00000105428	ENST00000222033	D	0.99741	-6.6	4.64	4.64	0.57946	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);Zinc finger, C3HC4 RING-type (1);	0.142496	0.51477	U	0.000086	D	0.99813	0.9918	H	0.96889	3.9	0.58432	D	0.999998	D	0.89917	1.0	D	0.97110	1.0	D	0.96772	0.9569	10	0.87932	D	0	-21.5244	14.2141	0.65781	0.0:0.0:1.0:0.0	.	327	Q8WWF5	ZNRF4_HUMAN	Y	327	ENSP00000222033:C327Y	ENSP00000222033:C327Y	C	+	2	0	ZNRF4	5407482	1.000000	0.71417	0.987000	0.45799	0.342000	0.28953	5.247000	0.65416	2.120000	0.65058	0.561000	0.74099	TGC	ZNRF4	-	pfam_Znf_C3HC4_RING-type,smart_Znf_RING,pfscan_Znf_RING		0.622	ZNRF4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNRF4	HGNC	protein_coding	OTTHUMT00000450924.1	G	NM_181710		5456482	+1	no_errors	ENST00000222033	ensembl	human	known	70_37	missense	SNP	0.993	A
ZNF841	284371	genome.wustl.edu	37	19	52568470	52568470	+	Missense_Mutation	SNP	G	G	A			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr19:52568470G>A	ENST00000426391.2	-	5	2868	c.2317C>T	c.(2317-2319)Cgc>Tgc	p.R773C	ZNF841_ENST00000359973.2_Missense_Mutation_p.R465C|ZNF841_ENST00000594295.1_Missense_Mutation_p.R889C|ZNF841_ENST00000389534.4_Missense_Mutation_p.R889C|CTC-471J1.2_ENST00000569091.1_RNA|ZNF432_ENST00000598446.1_Intron			Q6ZN19	ZN841_HUMAN	zinc finger protein 841	773					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(4)|kidney(3)|lung(3)	11						AGGCCTGAGCGACTAATGTAA	0.428																																																	0													251.0	205.0	219.0					19																	52568470		692	1591	2283	SO:0001583	missense	284371			AK131409	CCDS46161.1	19q13.41	2013-01-08			ENSG00000197608	ENSG00000197608		"""Zinc fingers, C2H2-type"", ""-"""	27611	protein-coding gene	gene with protein product							Standard	NM_001136499		Approved	LOC284371	uc010ydh.1	Q6ZN19		ENST00000426391.2:c.2317C>T	19.37:g.52568470G>A	ENSP00000415453:p.Arg773Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	B9EG58|Q6ZN82|Q6ZP71|Q8N9U7	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.R889C	ENST00000426391.2	37	c.2665		19	.	.	.	.	.	.	.	.	.	.	G	10.66	1.413383	0.25465	.	.	ENSG00000197608	ENST00000389534;ENST00000426391;ENST00000359973	T;T;T	0.61510	0.1;0.1;0.1	1.69	-3.37	0.04898	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.27454	0.0674	N	0.08118	0	0.09310	N	1	B;D;B	0.76494	0.026;0.999;0.015	B;B;B	0.41646	0.002;0.362;0.001	T	0.19877	-1.0292	9	0.42905	T	0.14	.	1.0109	0.01497	0.1445:0.1973:0.3144:0.3438	.	889;465;773	Q6ZN19-3;Q6ZN19-2;Q6ZN19	.;.;ZN841_HUMAN	C	889;773;465	ENSP00000374185:R889C;ENSP00000415453:R773C;ENSP00000353060:R465C	ENSP00000353060:R465C	R	-	1	0	ZNF841	57260282	0.000000	0.05858	0.000000	0.03702	0.884000	0.51177	-3.777000	0.00369	-2.030000	0.00929	0.313000	0.20887	CGC	ZNF841	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.428	ZNF841-001	PUTATIVE	basic	protein_coding	ZNF841	HGNC	protein_coding	OTTHUMT00000462435.1	G	XM_209155		52568470	-1	no_errors	ENST00000389534	ensembl	human	known	70_37	missense	SNP	0.000	A
ZNF841	284371	genome.wustl.edu	37	19	52569670	52569670	+	Missense_Mutation	SNP	C	C	T			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr19:52569670C>T	ENST00000426391.2	-	5	1668	c.1117G>A	c.(1117-1119)Gaa>Aaa	p.E373K	ZNF841_ENST00000359973.2_Intron|ZNF841_ENST00000594295.1_Missense_Mutation_p.E489K|ZNF841_ENST00000389534.4_Missense_Mutation_p.E489K|CTC-471J1.2_ENST00000569091.1_RNA|ZNF432_ENST00000598446.1_Intron			Q6ZN19	ZN841_HUMAN	zinc finger protein 841	373					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(4)|kidney(3)|lung(3)	11						TTGCCACATTCATTACATTTG	0.418																																																	0													43.0	38.0	40.0					19																	52569670		692	1591	2283	SO:0001583	missense	284371			AK131409	CCDS46161.1	19q13.41	2013-01-08			ENSG00000197608	ENSG00000197608		"""Zinc fingers, C2H2-type"", ""-"""	27611	protein-coding gene	gene with protein product							Standard	NM_001136499		Approved	LOC284371	uc010ydh.1	Q6ZN19		ENST00000426391.2:c.1117G>A	19.37:g.52569670C>T	ENSP00000415453:p.Glu373Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	B9EG58|Q6ZN82|Q6ZP71|Q8N9U7	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.E489K	ENST00000426391.2	37	c.1465		19	.	.	.	.	.	.	.	.	.	.	C	11.33	1.607588	0.28623	.	.	ENSG00000197608	ENST00000389534;ENST00000426391	T;T	0.07327	3.2;3.2	2.41	-4.81	0.03180	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.05777	0.0151	N	0.17764	0.52	0.09310	N	1	B;P	0.41393	0.001;0.748	B;B	0.43809	0.005;0.432	T	0.25984	-1.0116	9	0.56958	D	0.05	.	5.7091	0.17925	0.418:0.4762:0.0:0.1058	.	489;373	Q6ZN19-3;Q6ZN19	.;ZN841_HUMAN	K	489;373	ENSP00000374185:E489K;ENSP00000415453:E373K	ENSP00000374185:E489K	E	-	1	0	ZNF841	57261482	0.000000	0.05858	0.000000	0.03702	0.096000	0.18686	-0.319000	0.08039	-1.067000	0.03160	0.313000	0.20887	GAA	ZNF841	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.418	ZNF841-001	PUTATIVE	basic	protein_coding	ZNF841	HGNC	protein_coding	OTTHUMT00000462435.1	C	XM_209155		52569670	-1	no_errors	ENST00000389534	ensembl	human	known	70_37	missense	SNP	0.000	T
ZNF865	100507290	genome.wustl.edu	37	19	56125542	56125542	+	Silent	SNP	G	G	A			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr19:56125542G>A	ENST00000568956.1	+	2	912	c.558G>A	c.(556-558)ccG>ccA	p.P186P		NM_001195605.1	NP_001182534.1	P0CJ78	ZN865_HUMAN	zinc finger protein 865	186	Pro-rich.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)										CCCCAGGGCCGCTTCCTGCCC	0.741																																																	0																																										SO:0001819	synonymous_variant	100507290				CCDS58681.1	19q13.42	2013-01-08			ENSG00000261221	ENSG00000261221		"""Zinc fingers, C2H2-type"""	38705	protein-coding gene	gene with protein product							Standard	NM_001195605		Approved		uc021vca.1	P0CJ78	OTTHUMG00000177108	ENST00000568956.1:c.558G>A	19.37:g.56125542G>A		Somatic		WXS	Illumina HiSeq	Phase_IV		Silent	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.P186	ENST00000568956.1	37	c.558	CCDS58681.1	19																																																																																			ZNF865	-	NULL		0.741	ZNF865-001	NOVEL	basic|appris_principal|CCDS	protein_coding	ZNF865	HGNC	protein_coding	OTTHUMT00000435399.1	G	NM_001195605		56125542	+1	no_errors	ENST00000568956	ensembl	human	novel	70_37	silent	SNP	0.000	A
ZNF865	100507290	genome.wustl.edu	37	19	56127433	56127433	+	Nonsense_Mutation	SNP	C	C	T			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr19:56127433C>T	ENST00000568956.1	+	2	2803	c.2449C>T	c.(2449-2451)Cga>Tga	p.R817*		NM_001195605.1	NP_001182534.1	P0CJ78	ZN865_HUMAN	zinc finger protein 865	817					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)										GCACCTGGTGCGACGGACCCT	0.677																																																	0																																										SO:0001587	stop_gained	100507290				CCDS58681.1	19q13.42	2013-01-08			ENSG00000261221	ENSG00000261221		"""Zinc fingers, C2H2-type"""	38705	protein-coding gene	gene with protein product							Standard	NM_001195605		Approved		uc021vca.1	P0CJ78	OTTHUMG00000177108	ENST00000568956.1:c.2449C>T	19.37:g.56127433C>T	ENSP00000457715:p.Arg817*	Somatic		WXS	Illumina HiSeq	Phase_IV		Nonsense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.R817*	ENST00000568956.1	37	c.2449	CCDS58681.1	19																																																																																			ZNF865	-	pfscan_Znf_C2H2		0.677	ZNF865-001	NOVEL	basic|appris_principal|CCDS	protein_coding	ZNF865	HGNC	protein_coding	OTTHUMT00000435399.1	C	NM_001195605		56127433	+1	no_errors	ENST00000568956	ensembl	human	novel	70_37	nonsense	SNP	0.894	T
ZNF814	730051	genome.wustl.edu	37	19	58385022	58385022	+	Missense_Mutation	SNP	C	C	T			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr19:58385022C>T	ENST00000435989.2	-	3	1970	c.1736G>A	c.(1735-1737)gGa>gAa	p.G579E	ZNF814_ENST00000597342.1_Intron|ZNF814_ENST00000597832.1_Intron|ZNF814_ENST00000595295.1_Intron|ZNF814_ENST00000600634.1_Intron|ZNF814_ENST00000596604.1_Intron	NM_001144989.1	NP_001138461.1	B7Z6K7	ZN814_HUMAN	zinc finger protein 814	579					regulation of transcription, DNA-templated (GO:0006355)	intracellular (GO:0005622)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|central_nervous_system(2)|endometrium(3)|kidney(9)|lung(2)|prostate(4)|skin(1)|urinary_tract(3)	25						CCCACATTCTCCACACCCATA	0.453																																																	0													97.0	78.0	83.0					19																	58385022		692	1591	2283	SO:0001583	missense	730051				CCDS46212.1	19q13.43	2013-01-08			ENSG00000204514	ENSG00000204514		"""Zinc fingers, C2H2-type"", ""-"""	33258	protein-coding gene	gene with protein product							Standard	NM_001144989		Approved		uc002qqo.2	B7Z6K7		ENST00000435989.2:c.1736G>A	19.37:g.58385022C>T	ENSP00000410545:p.Gly579Glu	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NF35	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.G579E	ENST00000435989.2	37	c.1736	CCDS46212.1	19	.	.	.	.	.	.	.	.	.	.	.	10.07	1.249127	0.22880	.	.	ENSG00000204514	ENST00000435989	T	0.07021	3.23	1.66	0.584	0.17422	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.03053	0.0090	N	0.04787	-0.16	0.09310	N	1	B	0.15473	0.013	B	0.13407	0.009	T	0.47169	-0.9138	9	0.16896	T	0.51	.	2.2818	0.04116	0.0:0.3604:0.3113:0.3283	.	579	B7Z6K7	ZN814_HUMAN	E	579	ENSP00000410545:G579E	ENSP00000410545:G579E	G	-	2	0	ZNF814	63076834	0.000000	0.05858	0.470000	0.27216	0.314000	0.28054	-5.610000	0.00110	0.942000	0.37525	0.298000	0.19748	GGA	ZNF814	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2		0.453	ZNF814-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF814	HGNC	protein_coding	OTTHUMT00000466976.1	C	XM_001725708		58385022	-1	no_errors	ENST00000435989	ensembl	human	known	70_37	missense	SNP	0.017	T
ZP2	7783	genome.wustl.edu	37	16	21218297	21218297	+	Missense_Mutation	SNP	C	C	G			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr16:21218297C>G	ENST00000574002.1	-	6	827	c.345G>C	c.(343-345)caG>caC	p.Q115H	ZP2_ENST00000574091.1_Missense_Mutation_p.Q115H|AF001550.7_ENST00000572747.1_RNA|ZP2_ENST00000219593.4_Missense_Mutation_p.Q115H			Q05996	ZP2_HUMAN	zona pellucida glycoprotein 2 (sperm receptor)	115					binding of sperm to zona pellucida (GO:0007339)|intracellular protein transport (GO:0006886)|multicellular organism reproduction (GO:0032504)|prevention of polyspermy (GO:0060468)|signal transduction (GO:0007165)|single fertilization (GO:0007338)	endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|multivesicular body (GO:0005771)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)|secretory granule (GO:0030141)	acrosin binding (GO:0032190)|coreceptor activity (GO:0015026)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(16)|ovary(1)|prostate(1)|stomach(1)	41				GBM - Glioblastoma multiforme(48;0.0573)		TGATGGTCATCTGGTGTCCAC	0.493																																																	0													201.0	161.0	174.0					16																	21218297		2199	4300	6499	SO:0001583	missense	7783			M90366	CCDS10596.1, CCDS73843.1	16p12	2014-07-04			ENSG00000103310	ENSG00000103310		"""Zona pellucida glycoproteins"""	13188	protein-coding gene	gene with protein product		182888				8385033	Standard	XM_005255562		Approved	ZPA	uc002dii.2	Q05996	OTTHUMG00000090681	ENST00000574002.1:c.345G>C	16.37:g.21218297C>G	ENSP00000460971:p.Gln115His	Somatic		WXS	Illumina HiSeq	Phase_IV	B2R7J2|Q4VAN9|Q4VAP0|Q4VAP1	Missense_Mutation	SNP	pfam_ZP_dom,smart_ZP_dom,pfscan_ZP_dom,prints_ZP_dom	p.Q115H	ENST00000574002.1	37	c.345	CCDS10596.1	16	.	.	.	.	.	.	.	.	.	.	C	14.34	2.504939	0.44558	.	.	ENSG00000103310	ENST00000219593	T	0.30714	1.52	4.21	3.25	0.37280	.	0.665350	0.14669	N	0.305471	T	0.50463	0.1617	M	0.77103	2.36	0.28830	N	0.897178	D;D;D	0.89917	1.0;0.994;0.994	D;P;P	0.69479	0.964;0.838;0.838	T	0.40979	-0.9534	10	0.62326	D	0.03	-2.5042	7.2211	0.25988	0.0:0.8811:0.0:0.1189	.	115;115;115	B4DEV1;Q4VAP1;Q05996	.;.;ZP2_HUMAN	H	115	ENSP00000219593:Q115H	ENSP00000219593:Q115H	Q	-	3	2	ZP2	21125798	0.967000	0.33354	0.997000	0.53966	0.388000	0.30384	0.671000	0.25172	2.337000	0.79520	0.591000	0.81541	CAG	ZP2	-	NULL		0.493	ZP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ZP2	HGNC	protein_coding	OTTHUMT00000207365.2	C			21218297	-1	no_errors	ENST00000219593	ensembl	human	known	70_37	missense	SNP	0.970	G
ZSCAN1	284312	genome.wustl.edu	37	19	58565041	58565041	+	Silent	SNP	G	G	A	rs149807475	byFrequency	TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr19:58565041G>A	ENST00000282326.1	+	6	1096	c.849G>A	c.(847-849)ccG>ccA	p.P283P		NM_182572.3	NP_872378.3	Q8NBB4	ZSCA1_HUMAN	zinc finger and SCAN domain containing 1	283					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|transcription coactivator activity (GO:0003713)			NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	48		Colorectal(82;5.46e-05)|all_neural(62;0.0182)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0152)		CGGTAGTGCCGCGTGGGCCCC	0.632													G|||	3	0.000599042	0.0	0.0	5008	,	,		15905	0.0		0.0	False		,,,				2504	0.0031																0													63.0	62.0	62.0					19																	58565041		2203	4300	6503	SO:0001819	synonymous_variant	284312			AK091098	CCDS12969.1	19q13.43	2013-06-13	2004-04-21		ENSG00000152467	ENSG00000152467		"""-"", ""Zinc fingers, C2H2-type"""	23712	protein-coding gene	gene with protein product			"""zinc finger with SCAN domain 1"""			12477932	Standard	NM_182572		Approved	FLJ33779, ZNF915	uc002qrc.1	Q8NBB4	OTTHUMG00000183381	ENST00000282326.1:c.849G>A	19.37:g.58565041G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q3B798|Q6WLH8|Q86WS8	Silent	SNP	pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN	p.P283	ENST00000282326.1	37	c.849	CCDS12969.1	19																																																																																			ZSCAN1	-	NULL		0.632	ZSCAN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZSCAN1	HGNC	protein_coding	OTTHUMT00000466427.1	G	NM_182572		58565041	+1	no_errors	ENST00000282326	ensembl	human	known	70_37	silent	SNP	0.001	A
ZSCAN22	342945	genome.wustl.edu	37	19	58846467	58846467	+	Missense_Mutation	SNP	C	C	T	rs375568613		TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr19:58846467C>T	ENST00000329665.4	+	2	446	c.299C>T	c.(298-300)gCg>gTg	p.A100V		NM_181846.2	NP_862829.1	P10073	ZSC22_HUMAN	zinc finger and SCAN domain containing 22	100	SCAN box. {ECO:0000255|PROSITE- ProRule:PRU00187}.				transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|pancreas(1)|prostate(2)	16		all_cancers(17;3.11e-12)|all_epithelial(17;9.43e-09)|Colorectal(82;0.000256)|Lung NSC(17;0.000607)|all_lung(17;0.0024)|all_neural(62;0.0412)|Ovarian(87;0.156)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0289)		TTCCTGGGTGCGCTGCCCCCA	0.652																																																	0								C	VAL/ALA	0,4406		0,0,2203	33.0	35.0	34.0		299	-1.6	0.0	19		34	1,8599		0,1,4299	no	missense	ZSCAN22	NM_181846.2	64	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	100/492	58846467	1,13005	2203	4300	6503	SO:0001583	missense	342945			M20675	CCDS12975.1	19q13.43	2013-01-08	2006-09-20	2006-09-20				"""-"", ""Zinc fingers, C2H2-type"""	4929	protein-coding gene	gene with protein product	"""oncogene HKR2"""	165260	"""zinc finger protein 50"", ""GLI-Kruppel family member HKR2"""	ZNF50, HKR2		2850480, 1505991	Standard	NM_181846		Approved		uc002qsc.2	P10073		ENST00000329665.4:c.299C>T	19.37:g.58846467C>T	ENSP00000332433:p.Ala100Val	Somatic		WXS	Illumina HiSeq	Phase_IV	Q15922|Q7Z3L8	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Tscrpt_reg_SCAN	p.A100V	ENST00000329665.4	37	c.299	CCDS12975.1	19	.	.	.	.	.	.	.	.	.	.	C	8.236	0.805715	0.16467	0.0	1.16E-4	ENSG00000182318	ENST00000329665	T	0.03801	3.8	4.34	-1.61	0.08399	Retrovirus capsid, C-terminal (1);Transcription regulator SCAN (3);	.	.	.	.	T	0.02494	0.0076	N	0.04880	-0.145	0.09310	N	1	B	0.10296	0.003	B	0.06405	0.002	T	0.44019	-0.9355	9	0.52906	T	0.07	.	7.5446	0.27759	0.0:0.4065:0.0:0.5935	.	100	P10073	ZSC22_HUMAN	V	100	ENSP00000332433:A100V	ENSP00000332433:A100V	A	+	2	0	ZSCAN22	63538279	0.000000	0.05858	0.000000	0.03702	0.430000	0.31655	-2.088000	0.01359	-0.066000	0.12998	-0.137000	0.14449	GCG	ZSCAN22	-	pfam_Tscrpt_reg_SCAN,superfamily_Retrov_capsid_C,smart_Tscrpt_reg_SCAN,pfscan_Tscrpt_reg_SCAN		0.652	ZSCAN22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZSCAN22	HGNC	protein_coding	OTTHUMT00000466765.1	C	NM_181846		58846467	+1	no_errors	ENST00000329665	ensembl	human	known	70_37	missense	SNP	0.000	T
ZSWIM6	57688	genome.wustl.edu	37	5	60839822	60839822	+	Missense_Mutation	SNP	G	G	A	rs372466113		TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr5:60839822G>A	ENST00000252744.5	+	14	3326	c.3326G>A	c.(3325-3327)cGc>cAc	p.R1109H		NM_020928.1	NP_065979.1	Q9HCJ5	ZSWM6_HUMAN	zinc finger, SWIM-type containing 6	1109					neuron projection morphogenesis (GO:0048812)|regulation of neuron migration (GO:2001222)		zinc ion binding (GO:0008270)			breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)	8						GACATTTTGCGCAGATGCACT	0.512													g|||	1	0.000199681	0.0	0.0	5008	,	,		18052	0.0		0.001	False		,,,				2504	0.0																0									HIS/ARG	0,1384		0,0,692	129.0	107.0	114.0		3326	4.8	1.0	5		114	1,3181		0,1,1590	no	missense	ZSWIM6	NM_020928.1	29	0,1,2282	AA,AG,GG		0.0314,0.0,0.0219	possibly-damaging	1109/1216	60839822	1,4565	692	1591	2283	SO:0001583	missense	57688			BC039438	CCDS47215.1	5q12.1	2011-03-17			ENSG00000130449	ENSG00000130449		"""Zinc fingers, SWIM-type"""	29316	protein-coding gene	gene with protein product		615951				10997877, 16427614	Standard	NM_020928		Approved	KIAA1577	uc003jsr.3	Q9HCJ5	OTTHUMG00000162388	ENST00000252744.5:c.3326G>A	5.37:g.60839822G>A	ENSP00000252744:p.Arg1109His	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfscan_Znf_SWIM,prints_Antifreeze_1	p.R1109H	ENST00000252744.5	37	c.3326	CCDS47215.1	5	.	.	.	.	.	.	.	.	.	.	g	23.1	4.371355	0.82573	0.0	3.14E-4	ENSG00000130449	ENST00000252744	T	0.49720	0.77	4.82	4.82	0.62117	.	0.000000	0.85682	D	0.000000	T	0.51753	0.1693	L	0.61387	1.9	0.80722	D	1	P	0.50066	0.931	P	0.45406	0.479	T	0.52771	-0.8531	10	0.33940	T	0.23	-8.4367	18.1496	0.89671	0.0:0.0:1.0:0.0	.	1109	Q9HCJ5	ZSWM6_HUMAN	H	1109	ENSP00000252744:R1109H	ENSP00000252744:R1109H	R	+	2	0	ZSWIM6	60875579	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.215000	0.95146	2.533000	0.85409	0.550000	0.68814	CGC	ZSWIM6	-	NULL		0.512	ZSWIM6-001	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	ZSWIM6	HGNC	protein_coding	OTTHUMT00000368710.1	G	NM_020928		60839822	+1	no_errors	ENST00000252744	ensembl	human	known	70_37	missense	SNP	1.000	A
ZYX	7791	genome.wustl.edu	37	7	143079495	143079495	+	Silent	SNP	G	G	A	rs533497418|rs386718789	byFrequency	TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr7:143079495G>A	ENST00000322764.5	+	3	708	c.363G>A	c.(361-363)ccG>ccA	p.P121P	ZYX_ENST00000477373.1_Intron|ZYX_ENST00000449423.2_Silent_p.P65P|AC093673.5_ENST00000429630.1_RNA|ZYX_ENST00000392910.2_5'UTR	NM_001010972.1|NM_003461.4	NP_001010972.1|NP_003452.1	Q15942	ZYX_HUMAN	zyxin	121	Pro-rich.				cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|cell-matrix adhesion (GO:0007160)|integrin-mediated signaling pathway (GO:0007229)|regulation of inflammatory response (GO:0050727)|signal transduction (GO:0007165)|stress fiber assembly (GO:0043149)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|stress fiber (GO:0001725)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(1)|endometrium(5)|kidney(1)|large_intestine(1)|lung(8)|pancreas(1)	17	Melanoma(164;0.205)					CGCCTCCTCCGGAGGAGGAGG	0.697																																																	0													11.0	13.0	13.0					7																	143079495		2166	4237	6403	SO:0001819	synonymous_variant	7791			X95735	CCDS5883.1	7q32	2010-02-26			ENSG00000159840	ENSG00000159840			13200	protein-coding gene	gene with protein product		602002				8917469, 8940160	Standard	XM_005250052		Approved		uc003wcx.3	Q15942	OTTHUMG00000023822	ENST00000322764.5:c.363G>A	7.37:g.143079495G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	A4D2G6|Q6I9S4	Silent	SNP	pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM	p.P121	ENST00000322764.5	37	c.363	CCDS5883.1	7																																																																																			ZYX	-	NULL		0.697	ZYX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZYX	HGNC	protein_coding	OTTHUMT00000156296.2	G	NM_003461		143079495	+1	no_errors	ENST00000322764	ensembl	human	known	70_37	silent	SNP	0.040	A
ZZEF1	23140	genome.wustl.edu	37	17	3919733	3919733	+	Silent	SNP	G	G	T			TCGA-EA-A3HU-01A-11D-A20U-09	TCGA-EA-A3HU-10B-01D-A20U-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1f619d66-ddb0-4b45-91df-6d10a705f8bc	4d54f9a2-ccf4-4379-ae9e-00d1e01b80dd	g.chr17:3919733G>T	ENST00000381638.2	-	49	8153	c.8029C>A	c.(8029-8031)Cga>Aga	p.R2677R		NM_015113.3	NP_055928.3	O43149	ZZEF1_HUMAN	zinc finger, ZZ-type with EF-hand domain 1	2677							calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(17)|lung(19)|ovary(3)|pancreas(1)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(3)	84						ATGTCCTCTCGGCAGCCCTGG	0.562																																																	0													94.0	73.0	80.0					17																	3919733		2203	4300	6503	SO:0001819	synonymous_variant	23140			BC035319	CCDS11043.1	17p13.3	2013-01-10	2004-11-03		ENSG00000074755	ENSG00000074755		"""Zinc fingers, ZZ-type"", ""EF-hand domain containing"""	29027	protein-coding gene	gene with protein product			"""zinc finger, ZZ-type with EF hand domain 1"""			9455477	Standard	XM_005256560		Approved	KIAA0399, ZZZ4, FLJ10821	uc002fxe.3	O43149	OTTHUMG00000090741	ENST00000381638.2:c.8029C>A	17.37:g.3919733G>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A7MBM5|Q6NXG0|Q6ZRA1|Q6ZSF4|Q9NVB9	Silent	SNP	pfam_Znf_ZZ,pfam_APC_su10/DOC_dom,superfamily_Galactose-bd-like,superfamily_CUB,smart_EF_hand_Ca-bd,smart_Znf_ZZ,pfscan_EF_HAND_2,pfscan_Znf_ZZ	p.R2677	ENST00000381638.2	37	c.8029	CCDS11043.1	17																																																																																			ZZEF1	-	NULL		0.562	ZZEF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZZEF1	HGNC	protein_coding	OTTHUMT00000207480.1	G	NM_015113		3919733	-1	no_errors	ENST00000381638	ensembl	human	known	70_37	silent	SNP	1.000	T
