#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_ORegAnno_bin	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_ensembl_gene_id	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_name	i_gene_name_source	i_gene_type	i_havana_transcript	i_header	i_normal_VAF	i_normal_ref_reads	i_normal_var_reads	i_reference	i_refseq_mrna_id	i_secondary_variant_classification	i_stop	i_strand	i_tier	i_title	i_transcript_error	i_transcript_name	i_transcript_source	i_transcript_species	i_transcript_status	i_transcript_version	i_trv_type	i_tumor_VAF	i_tumor_ref_reads	i_tumor_var_reads	i_type	i_ucsc_cons	i_variant
PRKRIR	5612	genome.wustl.edu	37	11	76092935	76092935	+	5'Flank	SNP	T	T	A			TCGA-R6-A6L4-01A-11D-A31U-09	TCGA-R6-A6L4-10A-01D-A31U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	73e30098-463c-4d83-b6f7-dcc43fad6592	3fc2bd45-8cf9-420d-b900-a0fee703731d	g.chr11:76092935T>A	ENST00000260045.3	-	0	0				RP11-111M22.2_ENST00000529331.1_Silent_p.S21S|RP11-111M22.2_ENST00000321844.4_Silent_p.S21S|RP11-111M22.2_ENST00000531207.1_Intron|RP11-111M22.2_ENST00000530460.1_Silent_p.S21S	NM_004705.2	NP_004696.2	O43422	P52K_HUMAN	protein-kinase, interferon-inducible double stranded RNA dependent inhibitor, repressor of (P58 repressor)						negative regulation of cell proliferation (GO:0008285)|response to stress (GO:0006950)|signal transduction (GO:0007165)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			cervix(1)|endometrium(3)|large_intestine(4)|lung(12)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	25						TGAACAAGTCTGCAAGTGAGA	0.423																																																	0																																										SO:0001631	upstream_gene_variant	0			AF007393	CCDS8243.1	11q13.5	2013-01-25			ENSG00000137492	ENSG00000137492		"""THAP (C2CH-type zinc finger) domain containing"""	9440	protein-coding gene	gene with protein product	"""THAP domain containing 12"""	607374				9447982	Standard	NM_004705		Approved	P52rIPK, DAP4, THAP12	uc001oxh.1	O43422	OTTHUMG00000165280		11.37:g.76092935T>A	Exception_encountered		A8K728|Q17RY9|Q8WTW1|Q9Y3Z4	Silent	SNP	superfamily_Homeodomain-like	p.S21	ENST00000260045.3	37	c.63	CCDS8243.1	11																																																																																			RP11-111M22.2	-	NULL	ENSG00000179240		0.423	PRKRIR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	101928749	Clone_based_vega_gene	protein_coding	OTTHUMT00000383188.1		0.00	88	0	T	NM_004705		76092935	+1			no_errors	ENST00000529331	ensembl	human	putative	74_37	silent	35.19	35	19	SNP	1.000	A
ABCA6	23460	genome.wustl.edu	37	17	67125841	67125841	+	Missense_Mutation	SNP	G	G	T	rs531506351		TCGA-R6-A6L4-01A-11D-A31U-09	TCGA-R6-A6L4-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	73e30098-463c-4d83-b6f7-dcc43fad6592	3fc2bd45-8cf9-420d-b900-a0fee703731d	g.chr17:67125841G>T	ENST00000284425.2	-	7	1017	c.843C>A	c.(841-843)ttC>ttA	p.F281L		NM_080284.2	NP_525023.2	Q8N139	ABCA6_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 6	281					transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(6)|endometrium(5)|kidney(17)|large_intestine(18)|lung(20)|ovary(3)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	82	Breast(10;5.65e-12)					TAATTGTAACGAATATGGAAA	0.284																																																	0													72.0	77.0	75.0					17																	67125841		2203	4296	6499	SO:0001583	missense	0			U66680	CCDS11683.1	17q21	2012-03-14			ENSG00000154262	ENSG00000154262		"""ATP binding cassette transporters / subfamily A"""	36	protein-coding gene	gene with protein product		612504				8894702	Standard	NM_080284		Approved	EST155051	uc002jhw.1	Q8N139		ENST00000284425.2:c.843C>A	17.37:g.67125841G>T	ENSP00000284425:p.Phe281Leu		Q6NSH9|Q8N856|Q8WWZ6	Missense_Mutation	SNP	pfam_ABC_transporter-like,superfamily_P-loop_NTPase,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.F281L	ENST00000284425.2	37	c.843	CCDS11683.1	17	.	.	.	.	.	.	.	.	.	.	G	0.008	-1.931571	0.00488	.	.	ENSG00000154262	ENST00000284425	D	0.85171	-1.95	5.6	1.67	0.24075	.	1.358490	0.04814	N	0.435661	T	0.68348	0.2991	N	0.16708	0.43	0.24037	N	0.9961	B	0.09022	0.002	B	0.12156	0.007	T	0.58142	-0.7688	10	0.02654	T	1	.	1.7756	0.03021	0.1264:0.2474:0.4083:0.2179	.	281	Q8N139	ABCA6_HUMAN	L	281	ENSP00000284425:F281L	ENSP00000284425:F281L	F	-	3	2	ABCA6	64637436	0.959000	0.32827	0.284000	0.24805	0.015000	0.08874	0.210000	0.17455	0.637000	0.30526	0.650000	0.86243	TTC	ABCA6	-	NULL	ENSG00000154262		0.284	ABCA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCA6	HGNC	protein_coding	OTTHUMT00000450463.1		0.00	44	0	G	NM_080284		67125841	-1			no_errors	ENST00000284425	ensembl	human	known	74_37	missense	36.36	14	8	SNP	0.114	T
ABHD17C	58489	genome.wustl.edu	37	15	81041946	81041946	+	Missense_Mutation	SNP	C	C	A			TCGA-R6-A6L4-01A-11D-A31U-09	TCGA-R6-A6L4-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	73e30098-463c-4d83-b6f7-dcc43fad6592	3fc2bd45-8cf9-420d-b900-a0fee703731d	g.chr15:81041946C>A	ENST00000258884.4	+	2	810	c.683C>A	c.(682-684)gCg>gAg	p.A228E	ABHD17C_ENST00000559506.1_3'UTR|ABHD17C_ENST00000558464.1_Intron|ABHD17C_ENST00000560609.1_5'UTR	NM_021214.1	NP_067037.1	Q6PCB6	AB17C_HUMAN	abhydrolase domain containing 17C	228							hydrolase activity (GO:0016787)										GAATGCGCAGCGGTAATTCTC	0.507																																																	0													162.0	161.0	161.0					15																	81041946		2026	4169	6195	SO:0001583	missense	0				CCDS45323.1	15q25.1	2013-03-15	2013-03-15	2013-03-15	ENSG00000136379	ENSG00000136379		"""Abhydrolase domain containing"""	26925	protein-coding gene	gene with protein product			"""family with sequence similarity 108, member C1"""	FAM108C1			Standard	NM_021214		Approved		uc002bfu.3	Q6PCB6		ENST00000258884.4:c.683C>A	15.37:g.81041946C>A	ENSP00000258884:p.Ala228Glu		Q1RMD6|Q9NPM1	Missense_Mutation	SNP	pfam_Peptidase_S9,pfam_Dienelactn_hydro	p.A228E	ENST00000258884.4	37	c.683	CCDS45323.1	15	.	.	.	.	.	.	.	.	.	.	C	15.19	2.761046	0.49468	.	.	ENSG00000136379	ENST00000258884	T	0.56444	0.46	4.19	3.25	0.37280	.	0.000000	0.64402	D	0.000001	T	0.79305	0.4423	H	0.95437	3.67	0.80722	D	1	D	0.71674	0.998	D	0.73708	0.981	D	0.86047	0.1523	10	0.87932	D	0	.	14.418	0.67163	0.0:0.8518:0.1482:0.0	.	228	Q6PCB6	F108C_HUMAN	E	228	ENSP00000258884:A228E	ENSP00000258884:A228E	A	+	2	0	FAM108C1	78829001	0.999000	0.42202	0.172000	0.22920	0.047000	0.14425	4.359000	0.59449	1.076000	0.40961	0.655000	0.94253	GCG	ABHD17C	-	pfam_Peptidase_S9,pfam_Dienelactn_hydro	ENSG00000136379		0.507	ABHD17C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABHD17C	HGNC	protein_coding	OTTHUMT00000417652.1		0.00	108	0	C	NM_021214		81041946	+1			no_errors	ENST00000258884	ensembl	human	known	74_37	missense	48.98	25	24	SNP	0.997	A
ACPP	55	genome.wustl.edu	37	3	132071589	132071589	+	Missense_Mutation	SNP	A	A	G			TCGA-R6-A6L4-01A-11D-A31U-09	TCGA-R6-A6L4-10A-01D-A31U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	73e30098-463c-4d83-b6f7-dcc43fad6592	3fc2bd45-8cf9-420d-b900-a0fee703731d	g.chr3:132071589A>G	ENST00000336375.5	+	9	980	c.890A>G	c.(889-891)cAg>cGg	p.Q297R	ACPP_ENST00000351273.7_Missense_Mutation_p.Q297R|ACPP_ENST00000475741.1_Missense_Mutation_p.Q264R	NM_001099.4	NP_001090.2	P15309	PPAP_HUMAN	acid phosphatase, prostate	297					adenosine metabolic process (GO:0046085)|dephosphorylation (GO:0016311)|nucleotide metabolic process (GO:0009117)|positive regulation of adenosine receptor signaling pathway (GO:0060168)|purine nucleobase metabolic process (GO:0006144)|regulation of sensory perception of pain (GO:0051930)|thiamine metabolic process (GO:0006772)	apical part of cell (GO:0045177)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|Golgi cisterna (GO:0031985)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|lysosomal membrane (GO:0005765)|multivesicular body (GO:0005771)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)|vesicle membrane (GO:0012506)	5'-nucleotidase activity (GO:0008253)|acid phosphatase activity (GO:0003993)|choline binding (GO:0033265)|identical protein binding (GO:0042802)|lysophosphatidic acid phosphatase activity (GO:0052642)|phosphatase activity (GO:0016791)|thiamine phosphate phosphatase activity (GO:0042131)			NS(1)|breast(1)|endometrium(2)|large_intestine(5)|lung(13)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	27						AGTGGCCTACAGATGGCGCTA	0.433																																																	0													154.0	139.0	144.0					3																	132071589		2203	4300	6503	SO:0001583	missense	0				CCDS3073.1, CCDS46916.1	3q22.1	2012-05-16			ENSG00000014257	ENSG00000014257	3.1.3.2		125	protein-coding gene	gene with protein product		171790					Standard	NM_001099		Approved	ACP3, ACP-3	uc003eop.4	P15309	OTTHUMG00000159650	ENST00000336375.5:c.890A>G	3.37:g.132071589A>G	ENSP00000337471:p.Gln297Arg		D3DNC6|Q5FBY0|Q96KY0|Q96QK9|Q96QM0	Missense_Mutation	SNP	pfam_His_Pase_superF_clade-2	p.Q297R	ENST00000336375.5	37	c.890	CCDS3073.1	3	.	.	.	.	.	.	.	.	.	.	A	17.68	3.448515	0.63178	.	.	ENSG00000014257	ENST00000336375;ENST00000475741;ENST00000351273	T;T;T	0.28895	1.59;1.59;1.59	5.79	5.79	0.91817	.	0.000000	0.64402	D	0.000003	T	0.54919	0.1888	M	0.72118	2.19	0.46113	D	0.998872	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;0.999	T	0.57510	-0.7799	10	0.62326	D	0.03	.	14.1506	0.65381	1.0:0.0:0.0:0.0	.	297;297;264	P15309;P15309-2;Q5FBY0	PPAP_HUMAN;.;.	R	297;264;297	ENSP00000337471:Q297R;ENSP00000417744:Q264R;ENSP00000323036:Q297R	ENSP00000337471:Q297R	Q	+	2	0	ACPP	133554279	1.000000	0.71417	1.000000	0.80357	0.212000	0.24457	5.574000	0.67424	2.227000	0.72691	0.456000	0.33151	CAG	ACPP	-	pfam_His_Pase_superF_clade-2	ENSG00000014257		0.433	ACPP-001	KNOWN	basic|CCDS	protein_coding	ACPP	HGNC	protein_coding	OTTHUMT00000356699.2		0.00	55	0	A	NM_001099		132071589	+1			no_errors	ENST00000351273	ensembl	human	known	74_37	missense	53.85	12	14	SNP	1.000	G
AGAP1	116987	genome.wustl.edu	37	2	236706458	236706458	+	Silent	SNP	C	C	T			TCGA-R6-A6L4-01A-11D-A31U-09	TCGA-R6-A6L4-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	73e30098-463c-4d83-b6f7-dcc43fad6592	3fc2bd45-8cf9-420d-b900-a0fee703731d	g.chr2:236706458C>T	ENST00000304032.8	+	7	1309	c.729C>T	c.(727-729)tgC>tgT	p.C243C	AGAP1_ENST00000336665.5_Silent_p.C243C|AGAP1_ENST00000409538.1_Silent_p.C508C|AGAP1_ENST00000428334.2_Silent_p.C82C|AGAP1_ENST00000409457.1_Silent_p.C243C	NM_001037131.2	NP_001032208.1	Q9UPQ3	AGAP1_HUMAN	ArfGAP with GTPase domain, ankyrin repeat and PH domain 1	243	Small GTPase-like.				protein transport (GO:0015031)|regulation of ARF GTPase activity (GO:0032312)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	ARF GTPase activator activity (GO:0008060)|GTP binding (GO:0005525)|phospholipid binding (GO:0005543)|zinc ion binding (GO:0008270)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(12)|lung(11)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						TAGGACCCTGCAAGTCGCTAC	0.512																																																	0													175.0	176.0	176.0					2																	236706458		2203	4300	6503	SO:0001819	synonymous_variant	0			AF413078	CCDS2514.1, CCDS33408.1, CCDS58756.1	2q37	2013-01-10	2008-09-22	2008-09-22	ENSG00000157985	ENSG00000157985		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	16922	protein-coding gene	gene with protein product		608651	"""centaurin, gamma 2"""	CENTG2			Standard	NM_001037131		Approved	KIAA1099, GGAP1	uc002vvs.3	Q9UPQ3	OTTHUMG00000133293	ENST00000304032.8:c.729C>T	2.37:g.236706458C>T			B2RTX7|Q541S5|Q6P9D7|Q9NV93	Silent	SNP	pfam_ArfGAP,pfam_MIRO-like,pfam_Small_GTPase,pfam_Ankyrin_rpt,pfam_Pleckstrin_homology,superfamily_P-loop_NTPase,superfamily_Ankyrin_rpt-contain_dom,smart_Small_GTPase_Ras,smart_Small_GTPase_Rab_type,smart_Pleckstrin_homology,smart_ArfGAP,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Pleckstrin_homology,pfscan_ArfGAP,prints_ArfGAP,prints_Small_GTPase	p.C243	ENST00000304032.8	37	c.729	CCDS33408.1	2																																																																																			AGAP1	-	NULL	ENSG00000157985		0.512	AGAP1-001	KNOWN	basic|CCDS	protein_coding	AGAP1	HGNC	protein_coding	OTTHUMT00000257076.2		0.00	60	0	C	NM_014914		236706458	+1			no_errors	ENST00000304032	ensembl	human	known	74_37	silent	7.84	47	4	SNP	1.000	T
AHNAK	79026	genome.wustl.edu	37	11	62295472	62295472	+	Silent	SNP	C	C	T			TCGA-R6-A6L4-01A-11D-A31U-09	TCGA-R6-A6L4-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	73e30098-463c-4d83-b6f7-dcc43fad6592	3fc2bd45-8cf9-420d-b900-a0fee703731d	g.chr11:62295472C>T	ENST00000378024.4	-	5	6691	c.6417G>A	c.(6415-6417)ttG>ttA	p.L2139L	AHNAK_ENST00000257247.7_Intron|AHNAK_ENST00000530124.1_Intron	NM_001620.1	NP_001611.1	Q09666	AHNK_HUMAN	AHNAK nucleoprotein	2139					protein oligomerization (GO:0051259)|regulation of RNA splicing (GO:0043484)|regulation of voltage-gated calcium channel activity (GO:1901385)	actin cytoskeleton (GO:0015629)|cell-cell contact zone (GO:0044291)|costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|vesicle (GO:0031982)	poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)|structural molecule activity conferring elasticity (GO:0097493)			NS(3)|autonomic_ganglia(1)|breast(10)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(33)|large_intestine(40)|liver(1)|lung(108)|ovary(13)|pancreas(4)|prostate(5)|skin(16)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	268		Melanoma(852;0.155)				CCAATTTTGGCAAAGACACAT	0.502																																																	0													182.0	194.0	190.0					11																	62295472		2202	4299	6501	SO:0001819	synonymous_variant	0			M80899	CCDS31584.1, CCDS44625.1	11q12-q13	2008-02-05	2007-03-30		ENSG00000124942	ENSG00000124942			347	protein-coding gene	gene with protein product	"""desmoyokin"""	103390	"""AHNAK nucleoprotein (desmoyokin)"""			7987395, 12153988	Standard	NM_024060		Approved	MGC5395	uc001ntl.3	Q09666	OTTHUMG00000167558	ENST00000378024.4:c.6417G>A	11.37:g.62295472C>T			A1A586	Silent	SNP	superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.L2139	ENST00000378024.4	37	c.6417	CCDS31584.1	11																																																																																			AHNAK	-	NULL	ENSG00000124942		0.502	AHNAK-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	AHNAK	HGNC	protein_coding	OTTHUMT00000395572.1		0.00	126	0	C	NM_024060		62295472	-1			no_errors	ENST00000378024	ensembl	human	known	74_37	silent	6.35	59	4	SNP	0.001	T
AJAP1	55966	genome.wustl.edu	37	1	4832549	4832549	+	Missense_Mutation	SNP	C	C	T	rs149958982	byFrequency	TCGA-R6-A6L4-01A-11D-A31U-09	TCGA-R6-A6L4-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	73e30098-463c-4d83-b6f7-dcc43fad6592	3fc2bd45-8cf9-420d-b900-a0fee703731d	g.chr1:4832549C>T	ENST00000378191.4	+	4	1508	c.1127C>T	c.(1126-1128)aCg>aTg	p.T376M	AJAP1_ENST00000378190.3_Missense_Mutation_p.T376M	NM_018836.3	NP_061324.1	Q9UKB5	AJAP1_HUMAN	adherens junctions associated protein 1	376	Targeting signals.				cell adhesion (GO:0007155)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|urinary_tract(1)	24	all_cancers(77;0.071)|Ovarian(185;0.0721)	all_cancers(23;1.77e-36)|all_epithelial(116;1.26e-21)|all_lung(118;3.51e-08)|Lung NSC(185;3.47e-06)|all_neural(13;8.84e-06)|all_hematologic(16;7.61e-05)|Breast(487;0.000507)|Renal(390;0.0007)|Colorectal(325;0.00117)|Hepatocellular(190;0.0071)|Glioma(11;0.0155)|Myeloproliferative disorder(586;0.0258)|Ovarian(437;0.0409)|Lung SC(97;0.133)|Medulloblastoma(700;0.215)		Epithelial(90;3.89e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.97e-19)|GBM - Glioblastoma multiforme(42;3.71e-19)|Colorectal(212;4.57e-06)|COAD - Colon adenocarcinoma(227;0.00019)|Kidney(185;0.000969)|BRCA - Breast invasive adenocarcinoma(365;0.00122)|STAD - Stomach adenocarcinoma(132;0.00578)|KIRC - Kidney renal clear cell carcinoma(229;0.0126)|READ - Rectum adenocarcinoma(331;0.0689)		CTGCACTCGACGACGGGGGAG	0.582													C|||	3	0.000599042	0.0008	0.0029	5008	,	,		17821	0.0		0.0	False		,,,				2504	0.0																0								C	MET/THR,MET/THR	13,4393	20.2+/-43.8	0,13,2190	54.0	51.0	52.0		1127,1127	5.1	0.1	1	dbSNP_134	52	2,8598	2.2+/-6.3	0,2,4298	yes	missense,missense	AJAP1	NM_001042478.1,NM_018836.3	81,81	0,15,6488	TT,TC,CC		0.0233,0.2951,0.1153	probably-damaging,probably-damaging	376/412,376/412	4832549	15,12991	2203	4300	6503	SO:0001583	missense	0			AF175409	CCDS54.1	1p36.32	2008-02-05	2008-01-08		ENSG00000196581	ENSG00000196581			30801	protein-coding gene	gene with protein product	"""transmembrane protein SHREW1"""	610972				14595118	Standard	NM_001042478		Approved	SHREW1, SHREW-1, MOT8	uc001aln.3	Q9UKB5	OTTHUMG00000000645	ENST00000378191.4:c.1127C>T	1.37:g.4832549C>T	ENSP00000367433:p.Thr376Met		Q9Y229	Missense_Mutation	SNP	NULL	p.T376M	ENST00000378191.4	37	c.1127	CCDS54.1	1	2	9.157509157509158E-4	1	0.0020325203252032522	1	0.0027624309392265192	0	0.0	0	0.0	C	15.86	2.957209	0.53293	0.002951	2.33E-4	ENSG00000196581	ENST00000378190;ENST00000378191	T;T	0.56275	0.47;0.47	5.12	5.12	0.69794	.	0.393883	0.29198	N	0.012856	T	0.49338	0.1551	N	0.08118	0	0.30467	N	0.773702	D	0.64830	0.994	P	0.62014	0.897	T	0.55939	-0.8061	10	0.87932	D	0	.	12.255	0.54619	0.1701:0.8299:0.0:0.0	.	376	Q9UKB5	AJAP1_HUMAN	M	376	ENSP00000367432:T376M;ENSP00000367433:T376M	ENSP00000367432:T376M	T	+	2	0	AJAP1	4732409	0.999000	0.42202	0.121000	0.21740	0.661000	0.39034	5.799000	0.69101	2.380000	0.81148	0.561000	0.74099	ACG	AJAP1	-	NULL	ENSG00000196581		0.582	AJAP1-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	AJAP1	HGNC	protein_coding	OTTHUMT00000001542.3		0.00	30	0	C	NM_018836		4832549	+1			no_errors	ENST00000378190	ensembl	human	known	74_37	missense	10.26	35	4	SNP	0.876	T
ALG14	199857	genome.wustl.edu	37	1	95538354	95538354	+	Missense_Mutation	SNP	C	C	T	rs566569103		TCGA-R6-A6L4-01A-11D-A31U-09	TCGA-R6-A6L4-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	73e30098-463c-4d83-b6f7-dcc43fad6592	3fc2bd45-8cf9-420d-b900-a0fee703731d	g.chr1:95538354C>T	ENST00000370205.5	-	1	147	c.101G>A	c.(100-102)cGg>cAg	p.R34Q	ALG14_ENST00000495856.1_5'UTR	NM_144988.3	NP_659425.1	Q96F25	ALG14_HUMAN	ALG14, UDP-N-acetylglucosaminyltransferase subunit	34					cellular protein metabolic process (GO:0044267)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)				endometrium(2)|large_intestine(1)|lung(2)|pancreas(1)	6		all_lung(203;0.0232)|Lung NSC(277;0.0739)		all cancers(265;0.0615)|Epithelial(280;0.139)		GAGAGACTCCCGGGGCGTAAC	0.572																																																	0													127.0	115.0	119.0					1																	95538354		2203	4300	6503	SO:0001583	missense	0				CCDS752.1	1p21.3	2013-02-21	2013-02-21		ENSG00000172339	ENSG00000172339			28287	protein-coding gene	gene with protein product		612866	"""asparagine-linked glycosylation 14 homolog (yeast)"", ""asparagine-linked glycosylation 14 homolog (S. cerevisiae)"""			15615718	Standard	NM_144988		Approved	MGC19780	uc001dra.2	Q96F25	OTTHUMG00000010781	ENST00000370205.5:c.101G>A	1.37:g.95538354C>T	ENSP00000359224:p.Arg34Gln		A8K030	Missense_Mutation	SNP	pfam_Oligosacch_biosynth_Alg14	p.R34Q	ENST00000370205.5	37	c.101	CCDS752.1	1	.	.	.	.	.	.	.	.	.	.	C	15.94	2.980201	0.53827	.	.	ENSG00000172339	ENST00000370205	T	0.45668	0.89	4.99	3.03	0.35002	.	0.132033	0.48286	D	0.000197	T	0.07728	0.0194	N	0.08118	0	0.09310	N	1	P	0.52577	0.954	B	0.40285	0.325	T	0.16041	-1.0416	10	0.13470	T	0.59	-16.913	8.3316	0.32189	0.0:0.7485:0.161:0.0905	.	34	Q96F25	ALG14_HUMAN	Q	34	ENSP00000359224:R34Q	ENSP00000359224:R34Q	R	-	2	0	ALG14	95310942	0.072000	0.21174	0.296000	0.24974	0.263000	0.26337	1.720000	0.38022	2.591000	0.87537	0.591000	0.81541	CGG	ALG14	-	NULL	ENSG00000172339		0.572	ALG14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ALG14	HGNC	protein_coding	OTTHUMT00000029699.2		0.00	106	0	C	NM_144988		95538354	-1			no_errors	ENST00000370205	ensembl	human	known	74_37	missense	36.54	33	19	SNP	0.005	T
ANK3	288	genome.wustl.edu	37	10	61831657	61831657	+	Missense_Mutation	SNP	C	C	A			TCGA-R6-A6L4-01A-11D-A31U-09	TCGA-R6-A6L4-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	73e30098-463c-4d83-b6f7-dcc43fad6592	3fc2bd45-8cf9-420d-b900-a0fee703731d	g.chr10:61831657C>A	ENST00000280772.2	-	37	9173	c.8982G>T	c.(8980-8982)ttG>ttT	p.L2994F	ANK3_ENST00000503366.1_Intron|ANK3_ENST00000355288.2_Intron|ANK3_ENST00000373827.2_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	2994					axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization (GO:0045184)|Golgi to plasma membrane protein transport (GO:0043001)|maintenance of protein location in plasma membrane (GO:0072660)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|neuromuscular junction development (GO:0007528)|neuronal action potential (GO:0019228)|plasma membrane organization (GO:0007009)|positive regulation of cell communication by electrical coupling (GO:0010650)|positive regulation of gene expression (GO:0010628)|positive regulation of homotypic cell-cell adhesion (GO:0034112)|positive regulation of membrane depolarization during cardiac muscle cell action potential (GO:1900827)|positive regulation of membrane potential (GO:0045838)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)|protein localization to plasma membrane (GO:0072659)|protein targeting to plasma membrane (GO:0072661)|regulation of potassium ion transport (GO:0043266)|signal transduction (GO:0007165)	axon initial segment (GO:0043194)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|costamere (GO:0043034)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|lysosome (GO:0005764)|neuromuscular junction (GO:0031594)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|T-tubule (GO:0030315)|Z disc (GO:0030018)	cadherin binding (GO:0045296)|cytoskeletal protein binding (GO:0008092)|ion channel binding (GO:0044325)|protein binding, bridging (GO:0030674)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						TTGACTGGGACAATTTTTGTG	0.383																																																	0													65.0	61.0	62.0					10																	61831657		2203	4300	6503	SO:0001583	missense	0			U13616	CCDS7258.1, CCDS7259.1, CCDS55711.1, CCDS55712.1	10q21	2013-01-10			ENSG00000151150	ENSG00000151150		"""Ankyrin repeat domain containing"""	494	protein-coding gene	gene with protein product	"""ankyrin-3, node of Ranvier"", ""ankyrin-G"""	600465				7665168	Standard	NM_020987		Approved		uc001jky.3	Q12955	OTTHUMG00000018288	ENST00000280772.2:c.8982G>T	10.37:g.61831657C>A	ENSP00000280772:p.Leu2994Phe		B1AQT2|B4DIL1|E9PE32|Q13484|Q5CZH9|Q5VXD5|Q7Z3G4|Q9H0P5	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_ZU5,pfam_Death_domain,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like_dom,smart_Ankyrin_rpt,smart_ZU5,smart_Death_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death_domain,pfscan_ZU5,prints_Ankyrin_rpt	p.L2994F	ENST00000280772.2	37	c.8982	CCDS7258.1	10	.	.	.	.	.	.	.	.	.	.	C	0.066	-1.212964	0.01555	.	.	ENSG00000151150	ENST00000280772	T	0.64085	-0.08	5.44	1.59	0.23543	.	2.069380	0.02814	N	0.124662	T	0.41627	0.1167	N	0.08118	0	0.09310	N	0.999999	B	0.02656	0.0	B	0.01281	0.0	T	0.28138	-1.0053	10	0.38643	T	0.18	.	4.3243	0.11032	0.1547:0.3452:0.0:0.5001	.	2994	Q12955	ANK3_HUMAN	F	2994	ENSP00000280772:L2994F	ENSP00000280772:L2994F	L	-	3	2	ANK3	61501663	0.000000	0.05858	0.007000	0.13788	0.034000	0.12701	-0.169000	0.09911	0.475000	0.27415	0.462000	0.41574	TTG	ANK3	-	NULL	ENSG00000151150		0.383	ANK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ANK3	HGNC	protein_coding	OTTHUMT00000048201.4		0.00	32	0	C	NM_020987		61831657	-1			no_errors	ENST00000280772	ensembl	human	known	74_37	missense	60.00	6	9	SNP	0.040	A
ANLN	54443	genome.wustl.edu	37	7	36460273	36460273	+	Missense_Mutation	SNP	C	C	T	rs375850531		TCGA-R6-A6L4-01A-11D-A31U-09	TCGA-R6-A6L4-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	73e30098-463c-4d83-b6f7-dcc43fad6592	3fc2bd45-8cf9-420d-b900-a0fee703731d	g.chr7:36460273C>T	ENST00000265748.2	+	12	2304	c.2083C>T	c.(2083-2085)Cgg>Tgg	p.R695W	ANLN_ENST00000396068.2_Missense_Mutation_p.R658W	NM_018685.2	NP_061155.2	Q9NQW6	ANLN_HUMAN	anillin, actin binding protein	695					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						GGTGATTGTTCGGAAGGAAGA	0.338																																																	0								C	TRP/ARG	0,4406		0,0,2203	149.0	142.0	144.0		2083	5.8	1.0	7		144	1,8599	1.2+/-3.3	0,1,4299	no	missense	ANLN	NM_018685.2	101	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	695/1125	36460273	1,13005	2203	4300	6503	SO:0001583	missense	0			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.2083C>T	7.37:g.36460273C>T	ENSP00000265748:p.Arg695Trp		Q5CZ78|Q6NSK5|Q9H8Y4|Q9NVN9|Q9NVP0	Missense_Mutation	SNP	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.R695W	ENST00000265748.2	37	c.2083	CCDS5447.1	7	.	.	.	.	.	.	.	.	.	.	C	24.5	4.542967	0.86022	0.0	1.16E-4	ENSG00000011426	ENST00000265748;ENST00000396068	T;T	0.19938	2.11;2.25	5.84	5.84	0.93424	.	0.000000	0.85682	D	0.000000	T	0.48804	0.1520	M	0.68593	2.085	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.999;0.999;0.999	T	0.41645	-0.9497	10	0.87932	D	0	-13.7119	20.1379	0.98040	0.0:1.0:0.0:0.0	.	572;657;658;695	B4DSL6;A8K5D9;Q9NQW6-2;Q9NQW6	.;.;.;ANLN_HUMAN	W	695;658	ENSP00000265748:R695W;ENSP00000379380:R658W	ENSP00000265748:R695W	R	+	1	2	ANLN	36426798	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.864000	0.69575	2.779000	0.95612	0.655000	0.94253	CGG	ANLN	-	NULL	ENSG00000011426		0.338	ANLN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANLN	HGNC	protein_coding	OTTHUMT00000218582.3		0.00	44	0	C	NM_018685		36460273	+1			no_errors	ENST00000265748	ensembl	human	known	74_37	missense	42.11	33	24	SNP	1.000	T
AP3B2	8120	genome.wustl.edu	37	15	83331462	83331462	+	Silent	SNP	T	T	C			TCGA-R6-A6L4-01A-11D-A31U-09	TCGA-R6-A6L4-10A-01D-A31U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	73e30098-463c-4d83-b6f7-dcc43fad6592	3fc2bd45-8cf9-420d-b900-a0fee703731d	g.chr15:83331462T>C	ENST00000261722.3	-	22	2967	c.2760A>G	c.(2758-2760)caA>caG	p.Q920Q	AP3B2_ENST00000535359.1_Silent_p.Q939Q|RP11-752G15.3_ENST00000560650.1_RNA|AP3B2_ENST00000535348.1_Silent_p.Q888Q	NM_004644.3	NP_004635.2	Q13367	AP3B2_HUMAN	adaptor-related protein complex 3, beta 2 subunit	920					anterograde axon cargo transport (GO:0008089)|anterograde synaptic vesicle transport (GO:0048490)|intracellular protein transport (GO:0006886)|post-Golgi vesicle-mediated transport (GO:0006892)	AP-3 adaptor complex (GO:0030123)|COPI-coated vesicle (GO:0030137)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	transporter activity (GO:0005215)			breast(4)|endometrium(1)|kidney(1)|large_intestine(4)|lung(21)|ovary(4)|pancreas(1)|prostate(3)|urinary_tract(2)	41			BRCA - Breast invasive adenocarcinoma(143;0.229)			CGGGAAATTCTTGGATGCTGA	0.562																																																	0													35.0	37.0	36.0					15																	83331462		1943	4145	6088	SO:0001819	synonymous_variant	0			U37673	CCDS45331.1, CCDS61736.1, CCDS61737.1	15q	2008-07-07			ENSG00000103723	ENSG00000103723			567	protein-coding gene	gene with protein product		602166				7671305, 1851215	Standard	NM_004644		Approved	NAPTB	uc010uoh.2	Q13367	OTTHUMG00000168009	ENST00000261722.3:c.2760A>G	15.37:g.83331462T>C			A4Z4T7|B7ZKR7|B7ZKS0|O14808|Q52LY8	Silent	SNP	pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,superfamily_Coatomer/clathrin_app_Ig-like,pirsf_AP3_beta	p.Q920	ENST00000261722.3	37	c.2760	CCDS45331.1	15																																																																																			AP3B2	-	superfamily_Coatomer/clathrin_app_Ig-like,pirsf_AP3_beta	ENSG00000103723		0.562	AP3B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AP3B2	HGNC	protein_coding	OTTHUMT00000397463.1		0.00	65	0	T			83331462	-1			no_errors	ENST00000261722	ensembl	human	known	74_37	silent	30.77	18	8	SNP	0.991	C
APOB	338	genome.wustl.edu	37	2	21252655	21252655	+	Silent	SNP	G	G	T			TCGA-R6-A6L4-01A-11D-A31U-09	TCGA-R6-A6L4-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	73e30098-463c-4d83-b6f7-dcc43fad6592	3fc2bd45-8cf9-420d-b900-a0fee703731d	g.chr2:21252655G>T	ENST00000233242.1	-	12	1600	c.1473C>A	c.(1471-1473)gtC>gtA	p.V491V	APOB_ENST00000399256.4_Silent_p.V491V	NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	491	Vitellogenin. {ECO:0000255|PROSITE- ProRule:PRU00557}.				artery morphogenesis (GO:0048844)|blood coagulation (GO:0007596)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to tumor necrosis factor (GO:0071356)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle remodeling (GO:0034374)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol biosynthetic process (GO:0045540)|response to carbohydrate (GO:0009743)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to virus (GO:0009615)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|triglyceride catabolic process (GO:0019433)|triglyceride mobilization (GO:0006642)|very-low-density lipoprotein particle assembly (GO:0034379)	actin cytoskeleton (GO:0015629)|chylomicron (GO:0042627)|chylomicron remnant (GO:0034360)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome lumen (GO:0031904)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate-density lipoprotein particle (GO:0034363)|intracellular membrane-bounded organelle (GO:0043231)|low-density lipoprotein particle (GO:0034362)|mature chylomicron (GO:0034359)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|lipase binding (GO:0035473)|low-density lipoprotein particle receptor binding (GO:0050750)|phospholipid binding (GO:0005543)			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TATTTCCAATGACCTGCATTG	0.418																																																	0													144.0	139.0	140.0					2																	21252655		2203	4300	6503	SO:0001819	synonymous_variant	0			M14162	CCDS1703.1	2p24-p23	2013-05-29	2013-05-29		ENSG00000084674	ENSG00000084674		"""Apolipoproteins"""	603	protein-coding gene	gene with protein product		107730	"""apolipoprotein B (including Ag(x) antigen)"""				Standard	NM_000384		Approved		uc002red.3	P04114	OTTHUMG00000090785	ENST00000233242.1:c.1473C>A	2.37:g.21252655G>T			O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Silent	SNP	pfam_Lipid_transpt_N,pfam_Vitellinogen_open_b-sht,pfam_ApoB100_C,pfam_Lipid_transpt_open_b-sht,superfamily_Lipid_transp_b-sht_shell,superfamily_Vitellinogen_superhlx,superfamily_ARM-type_fold,smart_Lipid_transpt_N,pfscan_Lipid_transpt_N	p.V491	ENST00000233242.1	37	c.1473	CCDS1703.1	2																																																																																			APOB	-	pfam_Lipid_transpt_N,superfamily_Vitellinogen_superhlx,smart_Lipid_transpt_N,pfscan_Lipid_transpt_N	ENSG00000084674		0.418	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	APOB	HGNC	protein_coding	OTTHUMT00000207571.1		0.00	65	0	G			21252655	-1			no_errors	ENST00000233242	ensembl	human	known	74_37	silent	23.81	32	10	SNP	1.000	T
ASTN2	23245	genome.wustl.edu	37	9	119567995	119567995	+	Missense_Mutation	SNP	T	T	C			TCGA-R6-A6L4-01A-11D-A31U-09	TCGA-R6-A6L4-10A-01D-A31U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	73e30098-463c-4d83-b6f7-dcc43fad6592	3fc2bd45-8cf9-420d-b900-a0fee703731d	g.chr9:119567995T>C	ENST00000313400.4	-	13	2412	c.2312A>G	c.(2311-2313)gAt>gGt	p.D771G	ASTN2_ENST00000373996.3_Missense_Mutation_p.D767G|ASTN2_ENST00000361209.2_Missense_Mutation_p.D720G|ASTN2_ENST00000361477.3_5'UTR			O75129	ASTN2_HUMAN	astrotactin 2	771					negative regulation of protein localization to cell surface (GO:2000009)	cell pole (GO:0060187)|endosome (GO:0005768)|integral component of membrane (GO:0016021)				breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(21)|lung(45)|ovary(4)|pancreas(2)|prostate(2)|skin(9)|stomach(1)|urinary_tract(1)	102						AAAGAGGGTATCATTGAATTT	0.483																																																	0													229.0	212.0	218.0					9																	119567995		2203	4300	6503	SO:0001583	missense	0			AF116574	CCDS6814.1, CCDS6815.1, CCDS48009.1, CCDS48009.2, CCDS55334.1	9q33	2008-02-05			ENSG00000148219	ENSG00000148219			17021	protein-coding gene	gene with protein product		612856				9734811	Standard	NM_014010		Approved	KIAA0634	uc004bjt.2	O75129	OTTHUMG00000021013	ENST00000313400.4:c.2312A>G	9.37:g.119567995T>C	ENSP00000314038:p.Asp771Gly		A2A2T7|A2A2T9|Q52LQ2|Q5JVX8|Q5JVX9|Q5JVY1|Q5VXG8|Q5VZX6|Q8N6P8|Q8WV47|Q96FL4|Q9UHW6	Missense_Mutation	SNP	pfam_MACPF,superfamily_Fibronectin_type3,smart_MACPF	p.D771G	ENST00000313400.4	37	c.2312		9	.	.	.	.	.	.	.	.	.	.	T	17.11	3.305891	0.60305	.	.	ENSG00000148219	ENST00000313400;ENST00000373996;ENST00000373986;ENST00000361209	T;T;T;T	0.13538	2.76;2.75;2.58;2.78	5.49	5.49	0.81192	.	0.107759	0.64402	D	0.000011	T	0.18002	0.0432	N	0.19112	0.55	0.52099	D	0.99994	D;P;P	0.60575	0.988;0.908;0.93	P;B;P	0.56216	0.794;0.265;0.774	T	0.05599	-1.0875	9	.	.	.	-20.5972	15.5999	0.76616	0.0:0.0:0.0:1.0	.	720;771;767	O75129-2;O75129;O75129-3	.;ASTN2_HUMAN;.	G	771;767;494;720	ENSP00000314038:D771G;ENSP00000363108:D767G;ENSP00000363098:D494G;ENSP00000354504:D720G	.	D	-	2	0	ASTN2	118607816	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.359000	0.79477	2.074000	0.62210	0.533000	0.62120	GAT	ASTN2	-	NULL	ENSG00000148219		0.483	ASTN2-201	KNOWN	basic	protein_coding	ASTN2	HGNC	protein_coding			0.00	101	0	T	NM_014010		119567995	-1			no_errors	ENST00000313400	ensembl	human	known	74_37	missense	19.61	41	10	SNP	1.000	C
ASXL1	171023	genome.wustl.edu	37	20	31024338	31024338	+	Missense_Mutation	SNP	T	T	C			TCGA-R6-A6L4-01A-11D-A31U-09	TCGA-R6-A6L4-10A-01D-A31U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	73e30098-463c-4d83-b6f7-dcc43fad6592	3fc2bd45-8cf9-420d-b900-a0fee703731d	g.chr20:31024338T>C	ENST00000375687.4	+	13	4247	c.3823T>C	c.(3823-3825)Tca>Cca	p.S1275P	ASXL1_ENST00000306058.5_Missense_Mutation_p.S1270P	NM_015338.5	NP_056153	Q8IXJ9	ASXL1_HUMAN	additional sex combs like transcriptional regulator 1	1275					bone development (GO:0060348)|monoubiquitinated histone H2A deubiquitination (GO:0035522)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035359)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of retinoic acid receptor signaling pathway (GO:0048386)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to retinoic acid (GO:0032526)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nuclear chromatin (GO:0000790)|PR-DUB complex (GO:0035517)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|peroxisome proliferator activated receptor binding (GO:0042975)|retinoic acid receptor binding (GO:0042974)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(655)|kidney(5)|large_intestine(18)|liver(1)|lung(27)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	722						ACCTCGTTTCTCATCTCCAAA	0.502			"""F, N, Mis"""		"""MDS, CMML"""																																			Rec	yes		20	20q11.1	171023	additional sex combs like 1		L	0													100.0	91.0	94.0					20																	31024338		2203	4300	6503	SO:0001583	missense	0			AJ438952	CCDS13201.1	20q11	2014-09-17	2014-06-17		ENSG00000171456	ENSG00000171456			18318	protein-coding gene	gene with protein product		612990	"""additional sex combs like 1 (Drosophila)"""			12657473	Standard	NM_015338		Approved	KIAA0978	uc002wxs.3	Q8IXJ9	OTTHUMG00000032218	ENST00000375687.4:c.3823T>C	20.37:g.31024338T>C	ENSP00000364839:p.Ser1275Pro		B2RP59|Q5JWS9|Q8IYY7|Q9H466|Q9NQF8|Q9UFJ0|Q9UFP8|Q9Y2I4	Missense_Mutation	SNP	NULL	p.S1275P	ENST00000375687.4	37	c.3823	CCDS13201.1	20	.	.	.	.	.	.	.	.	.	.	T	15.00	2.702948	0.48412	.	.	ENSG00000171456	ENST00000358956;ENST00000375687;ENST00000421155;ENST00000412498;ENST00000306058	T;T	0.16324	2.36;2.35	4.56	3.46	0.39613	.	0.532693	0.20083	N	0.099606	T	0.12347	0.0300	L	0.34521	1.04	0.30594	N	0.761185	B;B	0.18461	0.011;0.028	B;B	0.14023	0.007;0.01	T	0.07654	-1.0761	10	0.35671	T	0.21	-1.6163	8.564	0.33527	0.0:0.0887:0.0:0.9113	.	1270;1275	A6NIZ6;Q8IXJ9	.;ASXL1_HUMAN	P	1275;1275;1275;1196;1270	ENSP00000364839:S1275P;ENSP00000305119:S1270P	ENSP00000305119:S1270P	S	+	1	0	ASXL1	30487999	1.000000	0.71417	0.991000	0.47740	0.995000	0.86356	3.982000	0.56909	1.084000	0.41184	0.459000	0.35465	TCA	ASXL1	-	NULL	ENSG00000171456		0.502	ASXL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ASXL1	HGNC	protein_coding	OTTHUMT00000078624.2		0.00	33	0	T	NM_015338		31024338	+1			no_errors	ENST00000375687	ensembl	human	known	74_37	missense	25.00	21	7	SNP	1.000	C
ATP8B4	79895	genome.wustl.edu	37	15	50264787	50264787	+	Missense_Mutation	SNP	C	C	T			TCGA-R6-A6L4-01A-11D-A31U-09	TCGA-R6-A6L4-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	73e30098-463c-4d83-b6f7-dcc43fad6592	3fc2bd45-8cf9-420d-b900-a0fee703731d	g.chr15:50264787C>T	ENST00000284509.6	-	13	1376	c.1235G>A	c.(1234-1236)aGa>aAa	p.R412K	ATP8B4_ENST00000559829.1_Missense_Mutation_p.R412K	NM_024837.2	NP_079113.2	Q8TF62	AT8B4_HUMAN	ATPase, class I, type 8B, member 4	412						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.R412I(1)		breast(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1)	73		all_lung(180;0.00183)		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)		ACCATAGATTCTCCCATTAAT	0.348																																																	1	Substitution - Missense(1)	large_intestine(1)											82.0	71.0	75.0					15																	50264787		2196	4295	6491	SO:0001583	missense	0			AB075819	CCDS32238.1	15q21.2	2010-04-20	2007-09-19		ENSG00000104043	ENSG00000104043		"""ATPases / P-type"""	13536	protein-coding gene	gene with protein product		609123	"""ATPase, Class I, type 8B, member 4"""			11015572	Standard	NM_024837		Approved	ATPIM, KIAA1939	uc001zxu.3	Q8TF62		ENST00000284509.6:c.1235G>A	15.37:g.50264787C>T	ENSP00000284509:p.Arg412Lys		Q9H727	Missense_Mutation	SNP	pfam_ATPase_P-typ_transduc_dom_A,superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,prints_Cation_transp_P_typ_ATPase,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase	p.R412K	ENST00000284509.6	37	c.1235	CCDS32238.1	15	.	.	.	.	.	.	.	.	.	.	C	2.265	-0.368350	0.05069	.	.	ENSG00000104043	ENST00000284509	T	0.63417	-0.04	5.08	-0.109	0.13584	ATPase, cation-transporting, domain N (1);HAD-like domain (1);ATPase, P-type, cytoplasmic domain N (1);	0.726076	0.13544	N	0.379999	T	0.33440	0.0863	N	0.04043	-0.29	0.09310	N	1	B	0.02656	0.0	B	0.09377	0.004	T	0.19811	-1.0294	10	0.18276	T	0.48	.	8.7319	0.34505	0.0:0.4908:0.0:0.5092	.	412	Q8TF62	AT8B4_HUMAN	K	412	ENSP00000284509:R412K	ENSP00000284509:R412K	R	-	2	0	ATP8B4	48052079	0.000000	0.05858	0.980000	0.43619	0.969000	0.65631	-0.552000	0.06020	-0.043000	0.13513	0.650000	0.86243	AGA	ATP8B4	-	superfamily_HAD-like_dom,superfamily_ATPase_P-typ_cyto_domN,tigrfam_ATPase_P-typ_Plipid-transp,tigrfam_Cation_transp_P_typ_ATPase	ENSG00000104043		0.348	ATP8B4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP8B4	HGNC	protein_coding	OTTHUMT00000418100.1		0.00	68	0	C	NM_024837		50264787	-1			no_errors	ENST00000284509	ensembl	human	known	74_37	missense	31.03	20	9	SNP	0.112	T
AXDND1	126859	genome.wustl.edu	37	1	179504087	179504087	+	Silent	SNP	T	T	C			TCGA-R6-A6L4-01A-11D-A31U-09	TCGA-R6-A6L4-10A-01D-A31U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	73e30098-463c-4d83-b6f7-dcc43fad6592	3fc2bd45-8cf9-420d-b900-a0fee703731d	g.chr1:179504087T>C	ENST00000367618.3	+	25	3408	c.3021T>C	c.(3019-3021)tcT>tcC	p.S1007S		NM_144696.4	NP_653297.3	Q5T1B0	AXDN1_HUMAN	axonemal dynein light chain domain containing 1	1007										NS(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(27)|ovary(1)|pancreas(1)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(2)	59						CCTCAAAATCTCCAAAGAAAG	0.318																																																	0													59.0	61.0	61.0					1																	179504087		2056	4235	6291	SO:0001819	synonymous_variant	0			BX647935	CCDS30948.1	1q25.2	2011-02-18	2011-02-18	2011-02-18	ENSG00000162779	ENSG00000162779			26564	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 125"""	C1orf125		14702039	Standard	NM_144696		Approved	FLJ32940	uc001gmo.3	Q5T1B0	OTTHUMG00000035266	ENST00000367618.3:c.3021T>C	1.37:g.179504087T>C			Q6AWB2|Q96LJ3|Q96M01	Silent	SNP	pfam_Axonemal_dynein_light_chain	p.S1007	ENST00000367618.3	37	c.3021	CCDS30948.1	1																																																																																			AXDND1	-	NULL	ENSG00000162779		0.318	AXDND1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	AXDND1	HGNC	protein_coding	OTTHUMT00000085312.1		0.00	52	0	T	NM_144696		179504087	+1			no_errors	ENST00000367618	ensembl	human	known	74_37	silent	44.44	15	12	SNP	0.000	C
B3GALT2	8707	genome.wustl.edu	37	1	193149573	193149573	+	Missense_Mutation	SNP	A	A	T			TCGA-R6-A6L4-01A-11D-A31U-09	TCGA-R6-A6L4-10A-01D-A31U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	73e30098-463c-4d83-b6f7-dcc43fad6592	3fc2bd45-8cf9-420d-b900-a0fee703731d	g.chr1:193149573A>T	ENST00000367434.4	-	2	1875	c.1120T>A	c.(1120-1122)Tgt>Agt	p.C374S	CDC73_ENST00000367435.3_Intron	NM_003783.3	NP_003774.1	O43825	B3GT2_HUMAN	UDP-Gal:betaGlcNAc beta 1,3-galactosyltransferase, polypeptide 2	374					oligosaccharide biosynthetic process (GO:0009312)|protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	UDP-galactose:beta-N-acetylglucosamine beta-1,3-galactosyltransferase activity (GO:0008499)			breast(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(4)|ovary(2)	16						CTGTATTTACAGCTCGAATAA	0.418																																																	0													111.0	111.0	111.0					1																	193149573		2203	4300	6503	SO:0001583	missense	0			Y15060	CCDS1383.1	1q31	2013-02-19			ENSG00000162630	ENSG00000162630		"""Beta 3-glycosyltransferases"""	917	protein-coding gene	gene with protein product		603018				9582303, 9417100	Standard	NM_003783		Approved	beta3Gal-T2	uc001gtc.4	O43825	OTTHUMG00000035687	ENST00000367434.4:c.1120T>A	1.37:g.193149573A>T	ENSP00000356404:p.Cys374Ser		B2RAB1|Q9BZQ9	Missense_Mutation	SNP	pfam_Glyco_trans_31	p.C374S	ENST00000367434.4	37	c.1120	CCDS1383.1	1	.	.	.	.	.	.	.	.	.	.	A	20.2	3.944009	0.73672	.	.	ENSG00000162630	ENST00000367434	T	0.55234	0.53	5.28	5.28	0.74379	.	0.000000	0.85682	D	0.000000	T	0.73094	0.3543	M	0.78049	2.395	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.77236	-0.2662	10	0.72032	D	0.01	.	15.22	0.73303	1.0:0.0:0.0:0.0	.	374	O43825	B3GT2_HUMAN	S	374	ENSP00000356404:C374S	ENSP00000356404:C374S	C	-	1	0	B3GALT2	191416196	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.339000	0.96797	1.991000	0.58162	0.454000	0.30748	TGT	B3GALT2	-	NULL	ENSG00000162630		0.418	B3GALT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	B3GALT2	HGNC	protein_coding	OTTHUMT00000086759.1		0.00	44	0	A	NM_003783		193149573	-1			no_errors	ENST00000367434	ensembl	human	known	74_37	missense	6.90	27	2	SNP	1.000	T
BCHE	590	genome.wustl.edu	37	3	165547693	165547693	+	Nonsense_Mutation	SNP	C	C	A	rs534912670		TCGA-R6-A6L4-01A-11D-A31U-09	TCGA-R6-A6L4-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	73e30098-463c-4d83-b6f7-dcc43fad6592	3fc2bd45-8cf9-420d-b900-a0fee703731d	g.chr3:165547693C>A	ENST00000264381.3	-	2	1295	c.1129G>T	c.(1129-1131)Gaa>Taa	p.E377*	BCHE_ENST00000540653.1_Intron	NM_000055.2	NP_000046.1	P06276	CHLE_HUMAN	butyrylcholinesterase	377					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)	TCCTGAAATTCTTTTCTAGTT	0.373																																																	0													28.0	31.0	30.0					3																	165547693		2201	4290	6491	SO:0001587	stop_gained	0			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.1129G>T	3.37:g.165547693C>A	ENSP00000264381:p.Glu377*		A8K7P8	Nonsense_Mutation	SNP	pfam_CarbesteraseB,pfam_AChE_tetra,pfam_AB_hydrolase_3,prints_Cholinesterase	p.E377*	ENST00000264381.3	37	c.1129	CCDS3198.1	3	.	.	.	.	.	.	.	.	.	.	C	27.7	4.856797	0.91433	.	.	ENSG00000114200	ENST00000264381	.	.	.	5.55	3.7	0.42460	.	0.222920	0.45606	D	0.000343	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	.	16.1573	0.81676	0.0:0.4083:0.5917:0.0	.	.	.	.	X	377	.	ENSP00000264381:E377X	E	-	1	0	BCHE	167030387	0.070000	0.21116	0.594000	0.28785	0.472000	0.32918	0.539000	0.23175	0.641000	0.30601	0.655000	0.94253	GAA	BCHE	-	pfam_CarbesteraseB	ENSG00000114200		0.373	BCHE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BCHE	HGNC	protein_coding	OTTHUMT00000350254.1		0.00	60	0	C			165547693	-1			no_errors	ENST00000264381	ensembl	human	known	74_37	nonsense	29.41	24	10	SNP	0.588	A
BCHE	590	genome.wustl.edu	37	3	165548550	165548550	+	Missense_Mutation	SNP	T	T	G			TCGA-R6-A6L4-01A-11D-A31U-09	TCGA-R6-A6L4-10A-01D-A31U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	73e30098-463c-4d83-b6f7-dcc43fad6592	3fc2bd45-8cf9-420d-b900-a0fee703731d	g.chr3:165548550T>G	ENST00000264381.3	-	2	438	c.272A>C	c.(271-273)aAt>aCt	p.N91T	BCHE_ENST00000540653.1_Intron	NM_000055.2	NP_000046.1	P06276	CHLE_HUMAN	butyrylcholinesterase	91					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)	ACAGCAAGAATTTGCATATTT	0.418																																																	0													101.0	104.0	103.0					3																	165548550		2203	4300	6503	SO:0001583	missense	0			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.272A>C	3.37:g.165548550T>G	ENSP00000264381:p.Asn91Thr		A8K7P8	Missense_Mutation	SNP	pfam_CarbesteraseB,pfam_AChE_tetra,pfam_AB_hydrolase_3,prints_Cholinesterase	p.N91T	ENST00000264381.3	37	c.272	CCDS3198.1	3	.	.	.	.	.	.	.	.	.	.	T	11.64	1.698251	0.30142	.	.	ENSG00000114200	ENST00000264381	T	0.68025	-0.3	5.67	4.49	0.54785	Carboxylesterase, type B (1);	0.044485	0.85682	D	0.000000	T	0.71013	0.3290	M	0.69523	2.12	0.80722	D	1	P	0.42908	0.793	P	0.47075	0.536	T	0.73173	-0.4066	10	0.87932	D	0	.	11.3815	0.49761	0.1357:0.0:0.0:0.8643	.	91	P06276	CHLE_HUMAN	T	91	ENSP00000264381:N91T	ENSP00000264381:N91T	N	-	2	0	BCHE	167031244	1.000000	0.71417	1.000000	0.80357	0.434000	0.31775	3.900000	0.56295	0.950000	0.37743	-0.336000	0.08194	AAT	BCHE	-	pfam_CarbesteraseB	ENSG00000114200		0.418	BCHE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BCHE	HGNC	protein_coding	OTTHUMT00000350254.1		0.00	73	0	T			165548550	-1			no_errors	ENST00000264381	ensembl	human	known	74_37	missense	35.90	25	14	SNP	1.000	G
BDP1	55814	genome.wustl.edu	37	5	70818198	70818198	+	Missense_Mutation	SNP	G	G	A			TCGA-R6-A6L4-01A-11D-A31U-09	TCGA-R6-A6L4-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	73e30098-463c-4d83-b6f7-dcc43fad6592	3fc2bd45-8cf9-420d-b900-a0fee703731d	g.chr5:70818198G>A	ENST00000358731.4	+	23	5337	c.5074G>A	c.(5074-5076)Gca>Aca	p.A1692T	BDP1_ENST00000380675.2_5'UTR	NM_018429.2	NP_060899.2	A6H8Y1	BDP1_HUMAN	B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB	1692					gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase III promoter (GO:0006383)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)		TTTGGGAAGAGCACACAGTAA	0.393																																																	0													151.0	151.0	151.0					5																	70818198		1858	4097	5955	SO:0001583	missense	0			AF298151	CCDS43328.1	5q12-q13	2008-02-05	2001-11-29	2001-11-30	ENSG00000145734	ENSG00000145734			13652	protein-coding gene	gene with protein product		607012	"""TATA box binding protein (TBP)-associated factor, RNA polymerase III, GTF3B subunit 1"""	TFNR, TAF3B1		11214970, 11040218	Standard	NM_018429		Approved	TFIIIB150, TFC5, TFIIIB90, KIAA1689, HSA238520, KIAA1241	uc003kbp.1	A6H8Y1	OTTHUMG00000162506	ENST00000358731.4:c.5074G>A	5.37:g.70818198G>A	ENSP00000351575:p.Ala1692Thr		Q68DS6|Q68DY5|Q6MZL9|Q6PIM7|Q86W98|Q96LR8|Q9C0H4|Q9H197|Q9H1A1|Q9HAW1|Q9HAW2|Q9HCY0|Q9ULH9	Missense_Mutation	SNP	superfamily_Homeodomain-like,smart_SANT/Myb	p.A1692T	ENST00000358731.4	37	c.5074	CCDS43328.1	5	.	.	.	.	.	.	.	.	.	.	G	19.83	3.899929	0.72754	.	.	ENSG00000145734	ENST00000358731;ENST00000451951	T	0.21543	2.0	5.21	4.34	0.51931	.	0.122511	0.37178	N	0.002209	T	0.35941	0.0949	L	0.59436	1.845	0.80722	D	1	P;D	0.69078	0.94;0.997	P;D	0.66196	0.534;0.942	T	0.10800	-1.0614	10	0.66056	D	0.02	.	6.9023	0.24288	0.0898:0.0:0.7383:0.1719	.	1692;1692	A6H8Y1;A6H8Y1-2	BDP1_HUMAN;.	T	1692;1272	ENSP00000351575:A1692T	ENSP00000351575:A1692T	A	+	1	0	BDP1	70853954	0.293000	0.24371	0.987000	0.45799	0.783000	0.44284	1.235000	0.32671	1.184000	0.42957	0.555000	0.69702	GCA	BDP1	-	NULL	ENSG00000145734		0.393	BDP1-016	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	BDP1	HGNC	protein_coding	OTTHUMT00000374681.2		0.00	40	0	G	NM_018429		70818198	+1			no_errors	ENST00000358731	ensembl	human	known	74_37	missense	17.65	14	3	SNP	0.903	A
CACNA1S	779	genome.wustl.edu	37	1	201035042	201035042	+	Missense_Mutation	SNP	C	C	T			TCGA-R6-A6L4-01A-11D-A31U-09	TCGA-R6-A6L4-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	73e30098-463c-4d83-b6f7-dcc43fad6592	3fc2bd45-8cf9-420d-b900-a0fee703731d	g.chr1:201035042C>T	ENST00000362061.3	-	22	3003	c.2777G>A	c.(2776-2778)aGc>aAc	p.S926N	CACNA1S_ENST00000367338.3_Missense_Mutation_p.S926N	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type, alpha 1S subunit	926					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)	CCCGATGGTGCTGATGGCCAC	0.607																																																	0													93.0	72.0	79.0					1																	201035042		2203	4300	6503	SO:0001583	missense	0			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.2777G>A	1.37:g.201035042C>T	ENSP00000355192:p.Ser926Asn		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.S926N	ENST00000362061.3	37	c.2777	CCDS1407.1	1	.	.	.	.	.	.	.	.	.	.	C	15.26	2.781150	0.49891	.	.	ENSG00000081248	ENST00000362061;ENST00000367338	D;D	0.97480	-4.4;-4.4	4.41	3.49	0.39957	Ion transport (1);	0.245012	0.37669	N	0.001988	D	0.93851	0.8033	L	0.35793	1.09	0.21627	N	0.999617	B	0.15141	0.012	B	0.28305	0.088	D	0.88508	0.3087	10	0.87932	D	0	.	7.9323	0.29909	0.0:0.7478:0.0:0.2522	.	926	Q13698	CAC1S_HUMAN	N	926	ENSP00000355192:S926N;ENSP00000356307:S926N	ENSP00000355192:S926N	S	-	2	0	CACNA1S	199301665	0.258000	0.24033	1.000000	0.80357	0.996000	0.88848	1.548000	0.36201	0.966000	0.38159	0.561000	0.74099	AGC	CACNA1S	-	pfam_Ion_trans_dom	ENSG00000081248		0.607	CACNA1S-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CACNA1S	HGNC	protein_coding	OTTHUMT00000087049.1		0.00	23	0	C	NM_000069		201035042	-1			no_errors	ENST00000362061	ensembl	human	known	74_37	missense	26.32	14	5	SNP	1.000	T
CAPN15	6650	genome.wustl.edu	37	16	598175	598175	+	Frame_Shift_Del	DEL	G	G	-	rs559682366		TCGA-R6-A6L4-01A-11D-A31U-09	TCGA-R6-A6L4-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	73e30098-463c-4d83-b6f7-dcc43fad6592	3fc2bd45-8cf9-420d-b900-a0fee703731d	g.chr16:598175delG	ENST00000219611.2	+	4	1700	c.1337delG	c.(1336-1338)cggfs	p.R446fs	LA16c-366D1.3_ENST00000565879.1_RNA	NM_005632.2	NP_005623.1	O75808	CAN15_HUMAN	calpain 15	446					proteolysis (GO:0006508)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)	calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|cysteine-type peptidase activity (GO:0008234)|peptidase activity (GO:0008233)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)										GCCCAGCGGCGGGGGGCCGCG	0.731																																																	0										28,3412		13,2,1705	4.0	5.0	5.0			2.2	1.0	16		4	53,6747		21,11,3368	no	frameshift	SOLH	NM_005632.2		34,13,5073	A1A1,A1R,RR		0.7794,0.814,0.791			598175	81,10159	2006	3911	5917	SO:0001589	frameshift_variant	0			U85647	CCDS10410.1	16p13.3	2013-06-27	2013-06-27	2013-06-27	ENSG00000103326	ENSG00000103326			11182	protein-coding gene	gene with protein product		603267	"""small optic lobes (Drosophila) homolog"", ""small optic lobes homolog (Drosophila)"""	SOLH		9722942	Standard	NM_005632		Approved		uc002chi.3	O75808	OTTHUMG00000119059	ENST00000219611.2:c.1337delG	16.37:g.598175delG	ENSP00000219611:p.Arg446fs		B1B1M4|Q2KHS2|Q8WTY9|Q9BUW0	Frame_Shift_Del	DEL	pfam_Peptidase_C2_calpain_cat,pfam_Znf_RanBP2,smart_Znf_RanBP2,smart_Peptidase_C2_calpain_cat,pfscan_Znf_RanBP2,pfscan_Peptidase_C2_calpain_cat,prints_Calpain_cysteine_protease	p.A448fs	ENST00000219611.2	37	c.1337	CCDS10410.1	16																																																																																			CAPN15	-	NULL	ENSG00000103326		0.731	CAPN15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CAPN15	HGNC	protein_coding	OTTHUMT00000239271.1		0.00	8	0	G	NM_005632		598175	+1			no_errors	ENST00000219611	ensembl	human	known	74_37	frame_shift_del	33.33	4	2	DEL	0.996	0
CARF	79800	genome.wustl.edu	37	2	203818736	203818736	+	Missense_Mutation	SNP	G	G	A			TCGA-R6-A6L4-01A-11D-A31U-09	TCGA-R6-A6L4-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	73e30098-463c-4d83-b6f7-dcc43fad6592	3fc2bd45-8cf9-420d-b900-a0fee703731d	g.chr2:203818736G>A	ENST00000402905.3	+	6	757	c.436G>A	c.(436-438)Gaa>Aaa	p.E146K	CARF_ENST00000545253.1_Missense_Mutation_p.E58K|WDR12_ENST00000477723.1_Intron|CARF_ENST00000545262.1_Missense_Mutation_p.E70K|CARF_ENST00000456821.2_Missense_Mutation_p.E134K|CARF_ENST00000428585.1_Missense_Mutation_p.E70K|CARF_ENST00000434998.1_Missense_Mutation_p.E44K|CARF_ENST00000438828.2_Missense_Mutation_p.E146K|CARF_ENST00000471271.1_3'UTR|CARF_ENST00000414439.1_Missense_Mutation_p.E44K|CARF_ENST00000320443.8_Missense_Mutation_p.E146K|CARF_ENST00000444724.1_Missense_Mutation_p.E146K	NM_001104586.1|NM_001282910.1|NM_001282911.1|NM_001282912.1	NP_001098056.1|NP_001269839.1|NP_001269840.1|NP_001269841.1	Q8N187	CARTF_HUMAN	calcium responsive transcription factor	146					cellular response to calcium ion (GO:0071277)|cellular response to potassium ion (GO:0035865)|positive regulation of transcription from RNA polymerase II promoter in response to calcium ion (GO:0061400)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|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 transcription factor activity (GO:0003700)										AGATGTCCCTGAAGAGAAACC	0.333																																																	0													110.0	103.0	105.0					2																	203818736		1839	4092	5931	SO:0001583	missense	0			AB053309	CCDS42801.1, CCDS63091.1	2q33.3	2013-06-12	2013-06-12	2013-06-12	ENSG00000138380	ENSG00000138380			14435	protein-coding gene	gene with protein product	"""calcium-response factor"""	607586	"""amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 8"""	ALS2CR8		11586298, 11832226	Standard	XM_005246858		Approved	FLJ21579, CaRF, NYD-SP24	uc002uzo.2	Q8N187	OTTHUMG00000154528	ENST00000402905.3:c.436G>A	2.37:g.203818736G>A	ENSP00000384006:p.Glu146Lys		B4E1W7|G3V1K7|Q8ND29|Q8WXC0|Q96J78|Q96Q38|Q96Q39|Q9H712	Missense_Mutation	SNP	NULL	p.E146K	ENST00000402905.3	37	c.436	CCDS42801.1	2	.	.	.	.	.	.	.	.	.	.	G	16.32	3.089376	0.55968	.	.	ENSG00000138380	ENST00000402905;ENST00000444724;ENST00000414439;ENST00000428585;ENST00000545253;ENST00000545262;ENST00000447539;ENST00000456821;ENST00000434998;ENST00000320443;ENST00000438828	.	.	.	5.07	3.27	0.37495	.	0.237397	0.35013	N	0.003503	T	0.47377	0.1442	L	0.41236	1.265	0.36745	D	0.88241	B;B;B;B;B	0.19935	0.018;0.008;0.04;0.008;0.022	B;B;B;B;B	0.22601	0.019;0.02;0.04;0.014;0.018	T	0.49428	-0.8941	9	0.54805	T	0.06	-7.2289	10.199	0.43071	0.1591:0.0:0.8409:0.0	.	58;70;146;146;146	B4DIA7;G3V1K7;B4DRP6;Q8N187;F6SXV3	.;.;.;AL2S8_HUMAN;.	K	146;146;44;70;58;70;70;134;44;146;146	.	ENSP00000316224:E146K	E	+	1	0	ALS2CR8	203526981	0.998000	0.40836	1.000000	0.80357	0.899000	0.52679	3.028000	0.49705	0.523000	0.28482	0.655000	0.94253	GAA	CARF	-	NULL	ENSG00000138380		0.333	CARF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CARF	HGNC	protein_coding	OTTHUMT00000335768.5		0.00	64	0	G	NM_001104586		203818736	+1			no_errors	ENST00000320443	ensembl	human	known	74_37	missense	20.00	36	9	SNP	1.000	A
CASC3	22794	genome.wustl.edu	37	17	38318023	38318023	+	Silent	SNP	C	C	T			TCGA-R6-A6L4-01A-11D-A31U-09	TCGA-R6-A6L4-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	73e30098-463c-4d83-b6f7-dcc43fad6592	3fc2bd45-8cf9-420d-b900-a0fee703731d	g.chr17:38318023C>T	ENST00000264645.7	+	4	541	c.315C>T	c.(313-315)taC>taT	p.Y105Y		NM_007359.4	NP_031385.2	O15234	CASC3_HUMAN	cancer susceptibility candidate 3	105					gene expression (GO:0010467)|intracellular mRNA localization (GO:0008298)|mRNA metabolic process (GO:0016071)|mRNA processing (GO:0006397)|mRNA transport (GO:0051028)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of translation (GO:0006417)|response to stress (GO:0006950)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)	cytosol (GO:0005829)|exon-exon junction complex (GO:0035145)|ribonucleoprotein complex (GO:0030529)	enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)|ubiquitin protein ligase binding (GO:0031625)			endometrium(4)|kidney(2)|large_intestine(3)|lung(4)|ovary(1)|urinary_tract(2)	16						AAGGTGAATACAGTGAAGAGG	0.433																																																	0													84.0	86.0	85.0					17																	38318023		2203	4300	6503	SO:0001819	synonymous_variant	0			X80199	CCDS11362.1	17q21.1	2012-09-20			ENSG00000108349	ENSG00000108349			17040	protein-coding gene	gene with protein product		606504				7490069, 18332872	Standard	NM_007359		Approved	MLN51, BTZ	uc002hue.3	O15234	OTTHUMG00000133323	ENST00000264645.7:c.315C>T	17.37:g.38318023C>T			A8K8R0	Silent	SNP	pfam_Btz_dom	p.Y105	ENST00000264645.7	37	c.315	CCDS11362.1	17																																																																																			CASC3	-	NULL	ENSG00000108349		0.433	CASC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CASC3	HGNC	protein_coding	OTTHUMT00000257127.3		0.00	39	0	C	NM_007359		38318023	+1			no_errors	ENST00000264645	ensembl	human	known	74_37	silent	14.29	24	4	SNP	0.999	T
CCDC57	284001	genome.wustl.edu	37	17	80156227	80156227	+	Missense_Mutation	SNP	A	A	G			TCGA-R6-A6L4-01A-11D-A31U-09	TCGA-R6-A6L4-10A-01D-A31U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	73e30098-463c-4d83-b6f7-dcc43fad6592	3fc2bd45-8cf9-420d-b900-a0fee703731d	g.chr17:80156227A>G	ENST00000389641.4	-	3	515	c.479T>C	c.(478-480)cTt>cCt	p.L160P	CCDC57_ENST00000392347.1_Missense_Mutation_p.L160P|CCDC57_ENST00000392343.3_Missense_Mutation_p.L160P			Q2TAC2	CCD57_HUMAN	coiled-coil domain containing 57	160										endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(1)	16	Breast(20;0.00285)|all_neural(118;0.0878)|all_lung(278;0.0949)|Lung NSC(278;0.128)|Ovarian(332;0.227)		BRCA - Breast invasive adenocarcinoma(99;0.0232)|OV - Ovarian serous cystadenocarcinoma(97;0.0253)			GAGCTCCTCAAGTTTTCTCTC	0.488																																																	0													97.0	95.0	95.0					17																	80156227		1854	4101	5955	SO:0001583	missense	0			BC040264		17q25.3	2006-03-08			ENSG00000176155	ENSG00000176155			27564	protein-coding gene	gene with protein product						12477932	Standard	XM_006722279		Approved	FLJ00130, FLJ23754	uc002kdx.1	Q2TAC2	OTTHUMG00000140396	ENST00000389641.4:c.479T>C	17.37:g.80156227A>G	ENSP00000374292:p.Leu160Pro		A6NP51|A8MQC7|Q8IWG2|Q8TER3	Missense_Mutation	SNP	NULL	p.L160P	ENST00000389641.4	37	c.479		17	.	.	.	.	.	.	.	.	.	.	A	14.51	2.557458	0.45590	.	.	ENSG00000176155	ENST00000389641;ENST00000392347;ENST00000392343	T;T;T	0.32272	2.64;2.64;1.46	5.28	5.28	0.74379	.	0.197109	0.32785	N	0.005654	T	0.52041	0.1710	M	0.61703	1.905	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.988	T	0.54417	-0.8297	10	0.66056	D	0.02	-14.8187	13.1426	0.59442	1.0:0.0:0.0:0.0	.	160;160	Q2TAC2-2;Q2TAC2	.;CCD57_HUMAN	P	160	ENSP00000374292:L160P;ENSP00000376158:L160P;ENSP00000376154:L160P	ENSP00000374292:L160P	L	-	2	0	CCDC57	77749516	0.992000	0.36948	0.136000	0.22124	0.229000	0.25112	6.644000	0.74338	1.993000	0.58246	0.533000	0.62120	CTT	CCDC57	-	NULL	ENSG00000176155		0.488	CCDC57-001	KNOWN	basic|appris_candidate_longest	protein_coding	CCDC57	HGNC	protein_coding	OTTHUMT00000277182.3		0.00	33	0	A	NM_198082		80156227	-1			no_errors	ENST00000389641	ensembl	human	known	74_37	missense	33.33	18	9	SNP	0.595	G
CCDC88A	55704	genome.wustl.edu	37	2	55562102	55562102	+	Missense_Mutation	SNP	G	G	A			TCGA-R6-A6L4-01A-11D-A31U-09	TCGA-R6-A6L4-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	73e30098-463c-4d83-b6f7-dcc43fad6592	3fc2bd45-8cf9-420d-b900-a0fee703731d	g.chr2:55562102G>A	ENST00000436346.1	-	15	2696	c.1855C>T	c.(1855-1857)Cat>Tat	p.H619Y	AC012358.8_ENST00000608103.1_RNA|CCDC88A_ENST00000263630.8_Missense_Mutation_p.H619Y|CCDC88A_ENST00000413716.2_Missense_Mutation_p.H619Y|AC012358.8_ENST00000599352.1_RNA|CCDC88A_ENST00000336838.6_Missense_Mutation_p.H619Y|AC012358.8_ENST00000599475.1_RNA|AC012358.8_ENST00000600219.1_RNA|AC012358.8_ENST00000594078.1_RNA	NM_001135597.1|NM_001254943.1	NP_001129069.1|NP_001241872.1	Q3V6T2	GRDN_HUMAN	coiled-coil domain containing 88A	619					activation of protein kinase B activity (GO:0032148)|cell migration (GO:0016477)|DNA replication (GO:0006260)|lamellipodium assembly (GO:0030032)|membrane organization (GO:0061024)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell proliferation (GO:0042127)|regulation of DNA replication (GO:0006275)|regulation of neuron projection development (GO:0010975)|regulation of protein phosphorylation (GO:0001932)|TOR signaling (GO:0031929)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|membrane (GO:0016020)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|microtubule binding (GO:0008017)|phosphatidylinositol binding (GO:0035091)|protein homodimerization activity (GO:0042803)|protein kinase B binding (GO:0043422)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(22)|lung(23)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|urinary_tract(1)	69						TCTTTATAATGTTCCAATTCT	0.244																																																	0													28.0	26.0	27.0					2																	55562102		2199	4294	6493	SO:0001583	missense	0			AB033038, AF112218	CCDS33203.1, CCDS46288.1, CCDS58710.1	2p16.3	2013-03-13	2007-05-31	2007-05-31	ENSG00000115355	ENSG00000115355			25523	protein-coding gene	gene with protein product	"""Galpha-interacting vesicle-associated protein"", ""Akt-phosphorylation enhancer"", ""girdin"", ""girders of actin filaments"""	609736	"""KIAA1212"""	KIAA1212		15749703, 15753085	Standard	NM_001135597		Approved	FLJ10392, APE, GIV, HkRP1, GRDN	uc002ryv.2	Q3V6T2	OTTHUMG00000151915	ENST00000436346.1:c.1855C>T	2.37:g.55562102G>A	ENSP00000410608:p.His619Tyr		A1IGE7|B7ZM78|C9JG83|Q53SF1|Q581G3|Q5HYD0|Q7Z339|Q7Z3C5	Missense_Mutation	SNP	pfam_Hook-related_fam,superfamily_Prefoldin,superfamily_t-SNARE	p.H619Y	ENST00000436346.1	37	c.1855		2	.	.	.	.	.	.	.	.	.	.	G	12.68	2.011158	0.35511	.	.	ENSG00000115355	ENST00000336838;ENST00000263630;ENST00000436346;ENST00000413716	T;T;T;T	0.30448	1.53;1.53;1.53;1.53	5.18	5.18	0.71444	.	0.134142	0.33272	U	0.005082	T	0.31702	0.0805	L	0.40543	1.245	0.80722	D	1	B;B;B	0.26744	0.158;0.087;0.108	B;B;B	0.29663	0.105;0.045;0.061	T	0.13255	-1.0516	10	0.72032	D	0.01	-8.7542	18.6882	0.91573	0.0:0.0:1.0:0.0	.	619;619;619	B7ZM78;Q3V6T2-2;Q3V6T2-3	.;.;.	Y	619	ENSP00000338728:H619Y;ENSP00000263630:H619Y;ENSP00000410608:H619Y;ENSP00000404431:H619Y	ENSP00000263630:H619Y	H	-	1	0	CCDC88A	55415606	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	2.570000	0.45981	2.400000	0.81607	0.561000	0.74099	CAT	CCDC88A	-	NULL	ENSG00000115355		0.244	CCDC88A-203	KNOWN	basic	protein_coding	CCDC88A	HGNC	protein_coding			0.00	65	0	G	NM_017571		55562102	-1			no_errors	ENST00000436346	ensembl	human	known	74_37	missense	27.27	47	18	SNP	1.000	A
CD109	135228	genome.wustl.edu	37	6	74502432	74502432	+	Missense_Mutation	SNP	T	T	G			TCGA-R6-A6L4-01A-11D-A31U-09	TCGA-R6-A6L4-10A-01D-A31U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	73e30098-463c-4d83-b6f7-dcc43fad6592	3fc2bd45-8cf9-420d-b900-a0fee703731d	g.chr6:74502432T>G	ENST00000287097.5	+	23	2897	c.2785T>G	c.(2785-2787)Ttt>Gtt	p.F929V	CD109_ENST00000474094.1_3'UTR|CD109_ENST00000422508.2_Missense_Mutation_p.F852V|CD109_ENST00000437994.2_Missense_Mutation_p.F929V			Q6YHK3	CD109_HUMAN	CD109 molecule	929					negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|negative regulation of wound healing (GO:0061045)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	serine-type endopeptidase inhibitor activity (GO:0004867)|transforming growth factor beta binding (GO:0050431)			NS(2)|biliary_tract(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						CATGATAAATTTTGCTCCAAA	0.368																																																	0													116.0	111.0	113.0					6																	74502432		2203	4300	6503	SO:0001583	missense	0			AF410459	CCDS4982.1, CCDS55038.1, CCDS55039.1	6q14.1	2008-02-05	2006-03-28		ENSG00000156535	ENSG00000156535		"""CD molecules"""	21685	protein-coding gene	gene with protein product		608859	"""CD109 antigen (Gov platelet alloantigens)"""			11861284, 11861285	Standard	XM_005248659		Approved	FLJ38569, DKFZp762L1111, CPAMD7	uc003php.3	Q6YHK3	OTTHUMG00000015040	ENST00000287097.5:c.2785T>G	6.37:g.74502432T>G	ENSP00000287097:p.Phe929Val		A5YKK4|B2R948|B3KW25|Q0P6K7|Q5SYA8|Q5XUM7|Q5XUM9|Q6MZI7|Q8N3A7|Q8N915|Q8TDJ2|Q8TDJ3	Missense_Mutation	SNP	pfam_A2M_comp,pfam_A2M_N_2,pfam_Macroglobln_a2,pfam_A-macroglobulin_rcpt-bd,pfam_A2M_N,pfam_MacrogloblnA2_thiol-ester-bond,superfamily_Terpenoid_cyclase/PrenylTrfase,superfamily_A-macroglobulin_rcpt-bd	p.F929V	ENST00000287097.5	37	c.2785	CCDS4982.1	6	.	.	.	.	.	.	.	.	.	.	T	26.5	4.742413	0.89573	.	.	ENSG00000156535	ENST00000437994;ENST00000422508;ENST00000287097	T;T;T	0.55760	0.5;0.5;0.5	5.87	5.87	0.94306	Terpenoid cylases/protein prenyltransferase alpha-alpha toroid (1);Alpha-2-macroglobulin, thiol-ester bond-forming (1);	0.109388	0.64402	D	0.000004	T	0.70762	0.3261	M	0.83774	2.66	0.58432	D	0.999996	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.87578	0.997;0.98;0.998	T	0.76035	-0.3106	10	0.87932	D	0	.	16.5764	0.84681	0.0:0.0:0.0:1.0	.	852;929;929	Q6YHK3-2;Q6YHK3-4;Q6YHK3	.;.;CD109_HUMAN	V	929;852;929	ENSP00000388062:F929V;ENSP00000404475:F852V;ENSP00000287097:F929V	ENSP00000287097:F929V	F	+	1	0	CD109	74559153	1.000000	0.71417	0.940000	0.37924	0.880000	0.50808	7.885000	0.87282	2.371000	0.80710	0.533000	0.62120	TTT	CD109	-	pfam_MacrogloblnA2_thiol-ester-bond,superfamily_Terpenoid_cyclase/PrenylTrfase	ENSG00000156535		0.368	CD109-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CD109	HGNC	protein_coding	OTTHUMT00000041230.3		0.00	62	0	T	NM_133493		74502432	+1			no_errors	ENST00000287097	ensembl	human	known	74_37	missense	42.86	16	12	SNP	1.000	G
MMP23B	8510	genome.wustl.edu	37	1	1572272	1572272	+	IGR	SNP	A	A	G			TCGA-R6-A6L4-01A-11D-A31U-09	TCGA-R6-A6L4-10A-01D-A31U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	73e30098-463c-4d83-b6f7-dcc43fad6592	3fc2bd45-8cf9-420d-b900-a0fee703731d	g.chr1:1572272A>G	ENST00000356026.5	+	0	1326				CDK11B_ENST00000341832.6_Missense_Mutation_p.L552P|CDK11B_ENST00000340677.5_Missense_Mutation_p.L586P|CDK11B_ENST00000407249.3_Missense_Mutation_p.L599P|CDK11B_ENST00000317673.7_Missense_Mutation_p.L597P			O75900	MMP23_HUMAN	matrix metallopeptidase 23B						proteolysis (GO:0006508)|reproduction (GO:0000003)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			large_intestine(1)	1	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)|Lung SC(97;0.128)		Epithelial(90;5.26e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.54e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|STAD - Stomach adenocarcinoma(132;0.00644)|BRCA - Breast invasive adenocarcinoma(365;0.00786)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)	Marimastat(DB00786)	GGCACCAAGCAGCAGCTCTGG	0.677																																																	0													32.0	42.0	39.0					1																	1572272		2093	4200	6293	SO:0001628	intergenic_variant	0				CCDS30559.1	1p36.3	2013-01-11	2005-08-08		ENSG00000189409	ENSG00000189409		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	7171	protein-coding gene	gene with protein product	"""matrix metalloproteinase 22"", ""femalysin"", ""matrix metalloproteinase in the female reproductive tract"""	603321	"""matrix metalloproteinase 23B"""	MMP22		9740677, 9750192	Standard	XM_005244810		Approved	MIFR, MIFR-1	uc001agp.3	O75900	OTTHUMG00000074713		1.37:g.1572272A>G			A2AGN0|A2AGN1|O75894|O75895|Q5QPQ8|Q76P96|Q7LDM6|Q7LDM7|Q9UBR9|Q9UJK8	Missense_Mutation	SNP	pfam_Prot_kinase_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_dom	p.L599P	ENST00000356026.5	37	c.1796	CCDS30559.1	1																																																																																			CDK11B	-	pfam_Prot_kinase_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_dom	ENSG00000248333		0.677	MMP23B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDK11B	HGNC	protein_coding	OTTHUMT00000158492.2		0.00	93	0	A	NM_006983		1572272	-1			no_errors	ENST00000407249	ensembl	human	known	74_37	missense	6.35	59	4	SNP	1.000	G
CDK14	5218	genome.wustl.edu	37	7	90747400	90747400	+	Missense_Mutation	SNP	C	C	A			TCGA-R6-A6L4-01A-11D-A31U-09	TCGA-R6-A6L4-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	73e30098-463c-4d83-b6f7-dcc43fad6592	3fc2bd45-8cf9-420d-b900-a0fee703731d	g.chr7:90747400C>A	ENST00000380050.3	+	14	1446	c.1315C>A	c.(1315-1317)Cca>Aca	p.P439T	CDK14_ENST00000265741.3_Missense_Mutation_p.P421T|CDK14_ENST00000406263.1_Missense_Mutation_p.P393T|CDK14_ENST00000436577.2_Missense_Mutation_p.P310T			O94921	CDK14_HUMAN	cyclin-dependent kinase 14	439					cell division (GO:0051301)|G2/M transition of mitotic cell cycle (GO:0000086)|regulation of canonical Wnt signaling pathway (GO:0060828)|regulation of cell cycle (GO:0051726)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|cytoplasmic cyclin-dependent protein kinase holoenzyme complex (GO:0000308)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cyclin binding (GO:0030332)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)			breast(2)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(1)|lung(12)|ovary(1)|skin(4)	32						TTTTACTGTCCCAAATGTGAG	0.338																																					GBM(83;1228 1256 8311 16577 31299)												0													77.0	81.0	79.0					7																	90747400		2203	4300	6503	SO:0001583	missense	0				CCDS5619.1, CCDS75626.1, CCDS75627.1, CCDS75628.1	7q21-q22	2011-11-08	2009-12-16	2009-12-16	ENSG00000058091	ENSG00000058091		"""Cyclin-dependent kinases"""	8883	protein-coding gene	gene with protein product		610679	"""PFTAIRE protein kinase 1"""	PFTK1		9202329, 11313143, 19884882	Standard	XM_005250436		Approved	PFTAIRE1	uc003ukz.1	O94921	OTTHUMG00000023649	ENST00000380050.3:c.1315C>A	7.37:g.90747400C>A	ENSP00000369390:p.Pro439Thr		A4D1E6|A6NK51|A8WFP6|B4DHG5|B4DNM2|Q75N06|Q75N22|Q8N764|Q9H3D7|Q9UDR0	Missense_Mutation	SNP	pfam_Prot_kinase_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_dom	p.P439T	ENST00000380050.3	37	c.1315		7	.	.	.	.	.	.	.	.	.	.	C	19.31	3.802365	0.70682	.	.	ENSG00000058091	ENST00000380050;ENST00000265741;ENST00000406263;ENST00000436577	T;T;T;T	0.70986	-0.43;-0.43;-0.42;-0.53	5.78	4.9	0.64082	Protein kinase-like domain (1);	0.062472	0.64402	D	0.000005	T	0.71517	0.3349	L	0.43923	1.385	0.53688	D	0.999971	B;D;B	0.56287	0.084;0.975;0.084	B;P;B	0.50570	0.039;0.644;0.063	T	0.74951	-0.3489	10	0.62326	D	0.03	-3.966	15.1128	0.72372	0.0:0.9321:0.0:0.0679	.	310;421;439	E7EUK8;O94921-2;O94921	.;.;CDK14_HUMAN	T	439;421;393;310	ENSP00000369390:P439T;ENSP00000265741:P421T;ENSP00000385034:P393T;ENSP00000398936:P310T	ENSP00000265741:P421T	P	+	1	0	CDK14	90585336	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.203000	0.51075	1.594000	0.50039	0.655000	0.94253	CCA	CDK14	-	superfamily_Kinase-like_dom	ENSG00000058091		0.338	CDK14-001	KNOWN	basic|appris_principal	protein_coding	CDK14	HGNC	protein_coding	OTTHUMT00000059970.5		0.00	64	0	C	NM_012395		90747400	+1			no_errors	ENST00000380050	ensembl	human	known	74_37	missense	47.22	19	17	SNP	1.000	A
CHD3	1107	genome.wustl.edu	37	17	7797888	7797888	+	Missense_Mutation	SNP	G	G	T			TCGA-R6-A6L4-01A-11D-A31U-09	TCGA-R6-A6L4-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	73e30098-463c-4d83-b6f7-dcc43fad6592	3fc2bd45-8cf9-420d-b900-a0fee703731d	g.chr17:7797888G>T	ENST00000330494.7	+	8	1381	c.1231G>T	c.(1231-1233)Gac>Tac	p.D411Y	CHD3_ENST00000358181.4_Missense_Mutation_p.D411Y|CHD3_ENST00000380358.4_Missense_Mutation_p.D470Y	NM_001005273.2	NP_001005273.1	Q12873	CHD3_HUMAN	chromodomain helicase DNA binding protein 3	411					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)				TCCTGAGCTTGACCGGGCTCC	0.572																																																	0													142.0	109.0	120.0					17																	7797888		2203	4300	6503	SO:0001583	missense	0			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.1231G>T	17.37:g.7797888G>T	ENSP00000332628:p.Asp411Tyr		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_P-loop_NTPase,superfamily_Chromodomain-like,superfamily_Znf_FYVE_PHD,superfamily_HMG_box_dom,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.D411Y	ENST00000330494.7	37	c.1231	CCDS32554.1	17	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.77|16.77	3.215628|3.215628	0.58452|0.58452	.|.	.|.	ENSG00000170004|ENSG00000170004	ENST00000380358;ENST00000358181;ENST00000330494|ENST00000452447	D;D;D|.	0.94138|.	-3.36;-3.36;-3.36|.	4.81|4.81	4.81|4.81	0.61882|0.61882	Zinc finger, PHD-finger (2);Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, PHD-type, conserved site (1);Zinc finger, RING-type (1);Zinc finger, PHD-type (1);Zinc finger, FYVE/PHD-type (1);|.	0.000000|.	0.47455|.	D|.	0.000227|.	T|.	0.73946|.	0.3652|.	M|M	0.66939|0.66939	2.045|2.045	0.80722|0.80722	D|D	1|1	D;D;D|.	0.65815|.	0.983;0.986;0.995|.	P;P;D|.	0.63283|.	0.804;0.876;0.913|.	T|.	0.73304|.	-0.4025|.	10|.	0.87932|.	D|.	0|.	-28.0882|-28.0882	18.0617|18.0617	0.89379|0.89379	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	411;411;470|.	Q12873-2;Q12873;E9PG89|.	.;CHD3_HUMAN;.|.	Y|L	470;411;411|281	ENSP00000369716:D470Y;ENSP00000350907:D411Y;ENSP00000332628:D411Y|.	ENSP00000332628:D411Y|.	D|X	+|+	1|2	0|2	CHD3|CHD3	7738613|7738613	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	9.537000|9.537000	0.98070|0.98070	2.499000|2.499000	0.84300|0.84300	0.557000|0.557000	0.71058|0.71058	GAC|TGA	CHD3	-	pfam_Znf_PHD-finger,superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_PHD-finger	ENSG00000170004		0.572	CHD3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CHD3	HGNC	protein_coding	OTTHUMT00000318050.1		0.00	32	0	G	NM_001005273		7797888	+1			no_errors	ENST00000330494	ensembl	human	known	74_37	missense	16.00	21	4	SNP	1.000	T
CHST9	83539	genome.wustl.edu	37	18	24496546	24496546	+	Missense_Mutation	SNP	A	A	C			TCGA-R6-A6L4-01A-11D-A31U-09	TCGA-R6-A6L4-10A-01D-A31U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	73e30098-463c-4d83-b6f7-dcc43fad6592	3fc2bd45-8cf9-420d-b900-a0fee703731d	g.chr18:24496546A>C	ENST00000284224.8	-	6	1286	c.1009T>G	c.(1009-1011)Ttg>Gtg	p.L337V	CHST9_ENST00000581714.1_Missense_Mutation_p.L337V|CHST9_ENST00000580774.1_3'UTR|AQP4-AS1_ENST00000579964.1_RNA|AQP4-AS1_ENST00000568797.1_RNA|AQP4-AS1_ENST00000578701.1_RNA|AQP4-AS1_ENST00000582605.1_RNA	NM_031422.5	NP_113610.2	Q7L1S5	CHST9_HUMAN	carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 9	337					carbohydrate biosynthetic process (GO:0016051)|carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|hormone biosynthetic process (GO:0042446)|proteoglycan biosynthetic process (GO:0030166)|small molecule metabolic process (GO:0044281)|sulfur compound metabolic process (GO:0006790)	extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	N-acetylgalactosamine 4-O-sulfotransferase activity (GO:0001537)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|lung(7)|ovary(2)|pancreas(1)|skin(3)	28	all_lung(6;0.0145)|Ovarian(20;0.124)					GAATCCAGCAAGTAGTGGATA	0.398																																																	0													134.0	128.0	130.0					18																	24496546		1900	4114	6014	SO:0001583	missense	0			AF239821	CCDS42422.1, CCDS58618.1	18q11.2	2011-04-28			ENSG00000154080	ENSG00000154080		"""Sulfotransferases, membrane-bound"""	19898	protein-coding gene	gene with protein product		610191				11139592, 11445554	Standard	NM_031422		Approved	GALNAC4ST-2, GALNAC-4-ST2	uc002kwe.4	Q7L1S5		ENST00000284224.8:c.1009T>G	18.37:g.24496546A>C	ENSP00000284224:p.Leu337Val		Q6UX69|Q9BXH3|Q9BXH4|Q9BZW9	Missense_Mutation	SNP	pfam_Sulfotransferase	p.L337V	ENST00000284224.8	37	c.1009	CCDS42422.1	18	.	.	.	.	.	.	.	.	.	.	A	12.84	2.057731	0.36277	.	.	ENSG00000154080	ENST00000284224	T	0.73789	-0.78	6.17	1.23	0.21249	.	0.000000	0.53938	D	0.000045	T	0.78960	0.4366	L	0.52364	1.645	0.80722	D	1	P	0.47191	0.891	P	0.61874	0.895	T	0.77590	-0.2531	10	0.87932	D	0	-12.8716	10.4137	0.44309	0.6693:0.0:0.3307:0.0	.	337	Q7L1S5	CHST9_HUMAN	V	337	ENSP00000284224:L337V	ENSP00000284224:L337V	L	-	1	2	CHST9	22750544	0.987000	0.35691	0.999000	0.59377	0.801000	0.45260	0.361000	0.20267	0.194000	0.20326	-0.408000	0.06270	TTG	CHST9	-	pfam_Sulfotransferase	ENSG00000154080		0.398	CHST9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHST9	HGNC	protein_coding	OTTHUMT00000446549.1		0.00	29	0	A	NM_031422		24496546	-1			no_errors	ENST00000284224	ensembl	human	known	74_37	missense	33.33	12	6	SNP	0.996	C
CLCA2	9635	genome.wustl.edu	37	1	86919122	86919122	+	Silent	SNP	C	C	T			TCGA-R6-A6L4-01A-11D-A31U-09	TCGA-R6-A6L4-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	73e30098-463c-4d83-b6f7-dcc43fad6592	3fc2bd45-8cf9-420d-b900-a0fee703731d	g.chr1:86919122C>T	ENST00000370565.4	+	13	2388	c.2226C>T	c.(2224-2226)agC>agT	p.S742S	CLCA2_ENST00000498802.1_3'UTR	NM_006536.5	NP_006527.1	Q9UQC9	CLCA2_HUMAN	chloride channel accessory 2	742					cell adhesion (GO:0007155)|transport (GO:0006810)	cell junction (GO:0030054)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	chloride channel activity (GO:0005254)|ligand-gated ion channel activity (GO:0015276)			NS(2)|breast(1)|endometrium(1)|kidney(3)|large_intestine(9)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)	42		Lung NSC(277;0.238)		all cancers(265;0.0233)|Epithelial(280;0.0452)		GGGGCTTTAGCCGAGTCAGCT	0.463																																					Melanoma(157;1000 1898 5363 5664 48018)|Ovarian(88;135 1366 2838 28875 34642)												0													75.0	78.0	77.0					1																	86919122		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS708.1	1p22.3	2012-02-26	2009-01-29		ENSG00000137975	ENSG00000137975			2016	protein-coding gene	gene with protein product		604003	"""chloride channel, calcium activated, family member 2"", ""chloride channel regulator 2"""				Standard	NM_006536		Approved	CLCRG2	uc001dlr.4	Q9UQC9	OTTHUMG00000010256	ENST00000370565.4:c.2226C>T	1.37:g.86919122C>T			A8K2T3|Q9Y6N2	Silent	SNP	pfam_Cl_channel_Ca,pfam_DUF1973,pfam_VWF_A,smart_VWF_A,pfscan_VWF_A,tigrfam_CaCC_prot	p.S742	ENST00000370565.4	37	c.2226	CCDS708.1	1																																																																																			CLCA2	-	tigrfam_CaCC_prot	ENSG00000137975		0.463	CLCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLCA2	HGNC	protein_coding	OTTHUMT00000028284.1		0.00	67	0	C	NM_006536		86919122	+1			no_errors	ENST00000370565	ensembl	human	known	74_37	silent	7.69	48	4	SNP	0.973	T
CLEC17A	388512	genome.wustl.edu	37	19	14694191	14694191	+	Missense_Mutation	SNP	G	G	T			TCGA-R6-A6L4-01A-11D-A31U-09	TCGA-R6-A6L4-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	73e30098-463c-4d83-b6f7-dcc43fad6592	3fc2bd45-8cf9-420d-b900-a0fee703731d	g.chr19:14694191G>T	ENST00000417570.1	+	2	104	c.66G>T	c.(64-66)gaG>gaT	p.E22D	CLEC17A_ENST00000397439.2_Missense_Mutation_p.E22D|CLEC17A_ENST00000547437.1_Missense_Mutation_p.E22D|RN7SL337P_ENST00000462468.2_RNA	NM_001204118.1	NP_001191047.1	Q6ZS10	CL17A_HUMAN	C-type lectin domain family 17, member A	22	Poly-Glu.					cell surface (GO:0009986)|integral component of membrane (GO:0016021)	fucose binding (GO:0042806)|mannose binding (GO:0005537)|metal ion binding (GO:0046872)	p.E22D(1)									AGGAGGAGGAGGATGATGACT	0.562																																																	1	Substitution - Missense(1)	endometrium(1)											31.0	28.0	29.0					19																	14694191		1855	4057	5912	SO:0001583	missense	0			AK127809	CCDS46002.1, CCDS46002.2, CCDS56087.1	19p13.12	2009-06-26			ENSG00000187912	ENSG00000187912		"""C-type lectin domain containing"""	34520	protein-coding gene	gene with protein product	"""prolectin"""					19419970	Standard	NM_207390		Approved	FLJ45910	uc010dzn.2	Q6ZS10		ENST00000417570.1:c.66G>T	19.37:g.14694191G>T	ENSP00000393719:p.Glu22Asp		A8MX68|B2RTX0|B7ZMM4	Missense_Mutation	SNP	pfam_C-type_lectin,superfamily_C-type_lectin_fold,smart_C-type_lectin,pfscan_C-type_lectin,prints_AntifreezeII	p.E22D	ENST00000417570.1	37	c.66	CCDS56087.1	19	.	.	.	.	.	.	.	.	.	.	G	2.622	-0.288366	0.05605	.	.	ENSG00000187912	ENST00000547437;ENST00000397439;ENST00000417570	T;T;T	0.19394	2.15;2.5;4.0	3.24	-6.48	0.01896	.	.	.	.	.	T	0.09905	0.0243	L	0.31664	0.95	0.09310	N	1	B;B;B;B	0.12630	0.001;0.006;0.004;0.006	B;B;B;B	0.14578	0.003;0.011;0.002;0.005	T	0.17776	-1.0358	9	0.19147	T	0.46	.	1.7991	0.03068	0.166:0.3031:0.1262:0.4047	.	22;22;22;22	Q6ZS10-2;Q6ZS10-3;Q6ZS10;F8W1T8	.;.;CL17A_HUMAN;.	D	22	ENSP00000450065:E22D;ENSP00000380581:E22D;ENSP00000393719:E22D	ENSP00000341620:E22D	E	+	3	2	CLEC17A	14555191	0.009000	0.17119	0.000000	0.03702	0.002000	0.02628	-1.637000	0.02015	-3.697000	0.00119	-2.070000	0.00385	GAG	CLEC17A	-	NULL	ENSG00000187912		0.562	CLEC17A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CLEC17A	HGNC	protein_coding	OTTHUMT00000403400.1		0.00	91	0	G	NM_207390		14694191	+1			no_errors	ENST00000417570	ensembl	human	known	74_37	missense	5.36	53	3	SNP	0.000	T
CNGB3	54714	genome.wustl.edu	37	8	87616392	87616392	+	Missense_Mutation	SNP	T	T	G			TCGA-R6-A6L4-01A-11D-A31U-09	TCGA-R6-A6L4-10A-01D-A31U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	73e30098-463c-4d83-b6f7-dcc43fad6592	3fc2bd45-8cf9-420d-b900-a0fee703731d	g.chr8:87616392T>G	ENST00000320005.5	-	15	1757	c.1710A>C	c.(1708-1710)caA>caC	p.Q570H		NM_019098.4	NP_061971.3	Q9NQW8	CNGB3_HUMAN	cyclic nucleotide gated channel beta 3	570					cation transport (GO:0006812)|phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|signal transduction (GO:0007165)|transport (GO:0006810)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|photoreceptor outer segment (GO:0001750)|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)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(15)|lung(44)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	80						CTCCAAGAACTTGGACTTCTC	0.353																																																	0													77.0	74.0	75.0					8																	87616392		2203	4300	6503	SO:0001583	missense	0			AF228520	CCDS6244.1	8q21.3	2013-01-23	2003-06-25		ENSG00000170289	ENSG00000170289		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	2153	protein-coding gene	gene with protein product		605080	"""achromatopsia (rod monochromacy) 3"", ""achromatopsia (rod monochromacy) 1"""	ACHM3, ACHM1, RMCH		10888875, 10958649, 16382102	Standard	NM_019098		Approved		uc003ydx.3	Q9NQW8	OTTHUMG00000163738	ENST00000320005.5:c.1710A>C	8.37:g.87616392T>G	ENSP00000316605:p.Gln570His		C9JA51|Q9NRE9	Missense_Mutation	SNP	pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom	p.Q570H	ENST00000320005.5	37	c.1710	CCDS6244.1	8	.	.	.	.	.	.	.	.	.	.	T	17.25	3.343057	0.61073	.	.	ENSG00000170289	ENST00000320005	D	0.92699	-3.09	5.97	2.24	0.28232	Cyclic nucleotide-binding-like (1);RmlC-like jelly roll fold (1);Cyclic nucleotide-binding domain (3);	0.000000	0.85682	D	0.000000	D	0.95217	0.8449	M	0.85197	2.74	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.993;0.996	D	0.93154	0.6552	10	0.72032	D	0.01	.	7.2538	0.26164	0.0:0.1282:0.1226:0.7492	.	570;570	Q9NQW8-2;Q9NQW8	.;CNGB3_HUMAN	H	570	ENSP00000316605:Q570H	ENSP00000316605:Q570H	Q	-	3	2	CNGB3	87685508	1.000000	0.71417	0.997000	0.53966	0.626000	0.37791	2.044000	0.41241	0.141000	0.18875	-0.274000	0.10170	CAA	CNGB3	-	pfam_cNMP-bd_dom,superfamily_cNMP-bd-like,smart_cNMP-bd_dom,pfscan_cNMP-bd_dom	ENSG00000170289		0.353	CNGB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CNGB3	HGNC	protein_coding	OTTHUMT00000375107.1		0.00	59	0	T	NM_019098		87616392	-1			no_errors	ENST00000320005	ensembl	human	known	74_37	missense	38.10	13	8	SNP	1.000	G
CPNE5	57699	genome.wustl.edu	37	6	36790834	36790834	+	Splice_Site	SNP	G	G	A			TCGA-R6-A6L4-01A-11D-A31U-09	TCGA-R6-A6L4-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	73e30098-463c-4d83-b6f7-dcc43fad6592	3fc2bd45-8cf9-420d-b900-a0fee703731d	g.chr6:36790834G>A	ENST00000244751.2	-	2	760	c.136C>T	c.(136-138)Ctg>Ttg	p.L46L		NM_020939.1	NP_065990.1	Q9HCH3	CPNE5_HUMAN	copine V	46	C2 1. {ECO:0000255|PROSITE- ProRule:PRU00041}.					extracellular vesicular exosome (GO:0070062)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(4)|liver(1)|lung(9)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25						CAGGACTTACGTGGGTCGGAC	0.532																																																	0													149.0	133.0	139.0					6																	36790834		2203	4300	6503	SO:0001630	splice_region_variant	0			H09181	CCDS4825.1	6p21.2	2010-05-28			ENSG00000124772	ENSG00000124772			2318	protein-coding gene	gene with protein product		604209				9430674	Standard	NM_020939		Approved	CPN5, COPN5, KIAA1599	uc003omr.1	Q9HCH3	OTTHUMG00000014602	ENST00000244751.2:c.136+1C>T	6.37:g.36790834G>A			Q7Z6C8	Silent	SNP	pfam_Copine,pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,smart_VWF_A,pfscan_C2_dom,pfscan_VWF_A	p.L46	ENST00000244751.2	37	c.136	CCDS4825.1	6																																																																																			CPNE5	-	pfam_C2_dom,superfamily_C2_dom,smart_C2_dom,pfscan_C2_dom	ENSG00000124772		0.532	CPNE5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CPNE5	HGNC	protein_coding	OTTHUMT00000040351.1		0.00	72	0	G	NM_020939	Silent	36790834	-1			no_errors	ENST00000244751	ensembl	human	known	74_37	silent	33.93	37	19	SNP	0.988	A
CREB5	9586	genome.wustl.edu	37	7	28610022	28610022	+	Missense_Mutation	SNP	G	G	T			TCGA-R6-A6L4-01A-11D-A31U-09	TCGA-R6-A6L4-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	73e30098-463c-4d83-b6f7-dcc43fad6592	3fc2bd45-8cf9-420d-b900-a0fee703731d	g.chr7:28610022G>T	ENST00000357727.2	+	5	721	c.331G>T	c.(331-333)Ggg>Tgg	p.G111W	CREB5_ENST00000396299.2_Missense_Mutation_p.G78W|CREB5_ENST00000409603.1_Missense_Mutation_p.G78W|CREB5_ENST00000396300.2_Missense_Mutation_p.G104W	NM_182898.2	NP_878901.2	Q02930	CREB5_HUMAN	cAMP responsive element binding protein 5	111					adipose tissue development (GO:0060612)|fat cell differentiation (GO:0045444)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	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)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(7)|liver(1)|lung(13)|prostate(1)|skin(3)	32						GGCCATGACGGGGCCCGGAAC	0.537																																																	0													91.0	86.0	87.0					7																	28610022		2203	4300	6503	SO:0001583	missense	0			L05515	CCDS5417.1, CCDS5418.1, CCDS43562.1, CCDS43563.1	7p15	2013-01-10			ENSG00000146592	ENSG00000146592		"""basic leucine zipper proteins"""	16844	protein-coding gene	gene with protein product	"""cAMP response element binding protein CRE-Bpa"""					8378084, 8440710	Standard	XM_005249906		Approved	H_GS165L15.1, CRE-BPA	uc003szr.3	Q02930	OTTHUMG00000097081	ENST00000357727.2:c.331G>T	7.37:g.28610022G>T	ENSP00000350359:p.Gly111Trp		A8KA51|B4DU13|B5BUH3|C9JK47|Q05886|Q06246|Q75N02|Q86UJ9	Missense_Mutation	SNP	pfam_bZIP,smart_bZIP,pirsf_TF_cAMP-dep,pfscan_Znf_C2H2,pfscan_bZIP	p.G111W	ENST00000357727.2	37	c.331	CCDS5417.1	7	.	.	.	.	.	.	.	.	.	.	G	16.20	3.057014	0.55325	.	.	ENSG00000146592	ENST00000396299;ENST00000424599;ENST00000357727;ENST00000396300;ENST00000409603	T;T;T;T	0.65364	-0.11;-0.15;-0.14;-0.11	5.46	5.46	0.80206	.	0.000000	0.85682	D	0.000000	T	0.61413	0.2345	L	0.40543	1.245	0.80722	D	1	P	0.40376	0.715	B	0.43575	0.424	T	0.60260	-0.7298	10	0.39692	T	0.17	-9.2755	19.3132	0.94199	0.0:0.0:1.0:0.0	.	111	Q02930	CREB5_HUMAN	W	78;104;111;104;78	ENSP00000379593:G78W;ENSP00000350359:G111W;ENSP00000379594:G104W;ENSP00000387197:G78W	ENSP00000350359:G111W	G	+	1	0	CREB5	28576547	1.000000	0.71417	0.990000	0.47175	0.884000	0.51177	9.110000	0.94302	2.587000	0.87381	0.655000	0.94253	GGG	CREB5	-	pirsf_TF_cAMP-dep	ENSG00000146592		0.537	CREB5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CREB5	HGNC	protein_coding	OTTHUMT00000214204.4		0.00	36	0	G	NM_004904		28610022	+1			no_errors	ENST00000357727	ensembl	human	known	74_37	missense	8.89	41	4	SNP	0.999	T
CSDE1	7812	genome.wustl.edu	37	1	115275390	115275390	+	Silent	SNP	T	T	C			TCGA-R6-A6L4-01A-11D-A31U-09	TCGA-R6-A6L4-10A-01D-A31U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	73e30098-463c-4d83-b6f7-dcc43fad6592	3fc2bd45-8cf9-420d-b900-a0fee703731d	g.chr1:115275390T>C	ENST00000358528.4	-	10	1311	c.885A>G	c.(883-885)aaA>aaG	p.K295K	CSDE1_ENST00000534699.1_Silent_p.K295K|CSDE1_ENST00000438362.2_Silent_p.K341K|CSDE1_ENST00000530886.1_Silent_p.K165K|CSDE1_ENST00000339438.6_Silent_p.K264K|CSDE1_ENST00000369530.1_Silent_p.K310K|CSDE1_ENST00000261443.5_Silent_p.K264K	NM_001007553.2	NP_001007554.1	O75534	CSDE1_HUMAN	cold shock domain containing E1, RNA-binding	295					male gonad development (GO:0008584)|nuclear-transcribed mRNA catabolic process, no-go decay (GO:0070966)|regulation of transcription, DNA-templated (GO:0006355)	CRD-mediated mRNA stability complex (GO:0070937)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(4)|endometrium(11)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	51	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;2.21e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		AGGGAAGTTCTTTAGGGATCA	0.423																																																	0													148.0	146.0	147.0					1																	115275390		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS30811.1, CCDS30812.1, CCDS44197.1, CCDS55626.1	1p13.2	2011-11-02			ENSG00000009307	ENSG00000009307			29905	protein-coding gene	gene with protein product	"""upstream of NRAS"""	191510				2204029, 10048485	Standard	NM_007158		Approved	D1S155E, UNR	uc001efi.3	O75534	OTTHUMG00000012060	ENST00000358528.4:c.885A>G	1.37:g.115275390T>C			A8K281|E9PGZ0|G5E9Q2|O94961|Q5TF04|Q5TF05|Q68DF1|Q68DI9|Q9Y2S4	Silent	SNP	pfam_CSP_DNA-bd,superfamily_NA-bd_OB-fold,smart_Cold_shock_prot	p.K310	ENST00000358528.4	37	c.930	CCDS30812.1	1																																																																																			CSDE1	-	NULL	ENSG00000009307		0.423	CSDE1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	CSDE1	HGNC	protein_coding	OTTHUMT00000033397.1		0.00	45	0	T	NM_007158		115275390	-1			no_errors	ENST00000369530	ensembl	human	known	74_37	silent	25.00	30	10	SNP	1.000	C
CYP2E1	1571	genome.wustl.edu	37	10	135342131	135342131	+	Silent	SNP	G	G	A			TCGA-R6-A6L4-01A-11D-A31U-09	TCGA-R6-A6L4-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	73e30098-463c-4d83-b6f7-dcc43fad6592	3fc2bd45-8cf9-420d-b900-a0fee703731d	g.chr10:135342131G>A	ENST00000463117.2	+	4	596	c.324G>A	c.(322-324)gcG>gcA	p.A108A	SPRN_ENST00000541506.1_Intron|CYP2E1_ENST00000252945.3_Silent_p.A108A|AL161645.2_ENST00000599428.1_Intron|CYP2E1_ENST00000480558.1_3'UTR			P05181	CP2E1_HUMAN	cytochrome P450, family 2, subfamily E, polypeptide 1	108					drug metabolic process (GO:0017144)|heterocycle metabolic process (GO:0046483)|monoterpenoid metabolic process (GO:0016098)|oxidation-reduction process (GO:0055114)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to organonitrogen compound (GO:0010243)|response to ozone (GO:0010193)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|triglyceride metabolic process (GO:0006641)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|intrinsic component of endoplasmic reticulum membrane (GO:0031227)|mitochondrion (GO:0005739)	enzyme binding (GO:0019899)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity (GO:0016491)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen (GO:0016709)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen (GO:0016712)|oxygen binding (GO:0019825)			NS(1)|central_nervous_system(3)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(7)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		all_cancers(35;1.14e-09)|all_epithelial(44;5.79e-08)|Lung NSC(174;0.00263)|all_lung(145;0.0039)|all_neural(114;0.0299)|Melanoma(40;0.123)|Colorectal(31;0.172)|Glioma(114;0.203)		OV - Ovarian serous cystadenocarcinoma(35;1.12e-06)|all cancers(32;1.43e-06)|Epithelial(32;1.71e-06)	Acetaminophen(DB00316)|Aldesleukin(DB00041)|Almotriptan(DB00918)|Alosetron(DB00969)|Aminophylline(DB01223)|Amitriptyline(DB00321)|Antipyrine(DB01435)|Azelastine(DB00972)|Benzyl alcohol(DB06770)|Bifonazole(DB04794)|Bromazepam(DB01558)|Brompheniramine(DB00835)|Bupropion(DB01156)|Caffeine(DB00201)|Carbinoxamine(DB00748)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Chlorzoxazone(DB00356)|Cimetidine(DB00501)|Citalopram(DB00215)|Clevidipine(DB04920)|Clofibrate(DB00636)|Clomifene(DB00882)|Clonazepam(DB01068)|Clotrimazole(DB00257)|Clozapine(DB00363)|Colchicine(DB01394)|Dacarbazine(DB00851)|Dalfampridine(DB06637)|Dapsone(DB00250)|Desipramine(DB01151)|Dexamethasone(DB01234)|Dexfenfluramine(DB01191)|Dexmedetomidine(DB00633)|Dextromethorphan(DB00514)|Diazepam(DB00829)|Diclofenac(DB00586)|Diethylstilbestrol(DB00255)|Disulfiram(DB00822)|Econazole(DB01127)|Enflurane(DB00228)|Enfuvirtide(DB00109)|Estrone(DB00655)|Ethanol(DB00898)|Ethanolamine Oleate(DB06689)|Ethosuximide(DB00593)|Etoposide(DB00773)|Etoricoxib(DB01628)|Felbamate(DB00949)|Fingolimod(DB08868)|Flunitrazepam(DB01544)|Fluphenazine(DB00623)|Flurazepam(DB00690)|Fluvoxamine(DB00176)|Folic Acid(DB00158)|Fomepizole(DB01213)|Glucosamine(DB01296)|Halothane(DB01159)|Hexobarbital(DB01355)|Iloperidone(DB04946)|Imipramine(DB00458)|Isoflurane(DB00753)|Isoniazid(DB00951)|Isosorbide Dinitrate(DB00883)|Itraconazole(DB01167)|Menadione(DB00170)|Meprobamate(DB00371)|Methazolamide(DB00703)|Methimazole(DB00763)|Methotrimeprazine(DB01403)|Methoxyflurane(DB01028)|Metyrapone(DB01011)|Mexiletine(DB00379)|Miconazole(DB01110)|Midazolam(DB00683)|Mitoxantrone(DB01204)|Nicardipine(DB00622)|Nicotine(DB00184)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nitrazepam(DB01595)|Nortriptyline(DB00540)|Ondansetron(DB00904)|Orphenadrine(DB01173)|Oxaliplatin(DB00526)|Paramethadione(DB00617)|Phenelzine(DB00780)|Phenobarbital(DB01174)|Pilocarpine(DB01085)|Pimozide(DB01100)|Proguanil(DB01131)|Propofol(DB00818)|Quinidine(DB00908)|Quinine(DB00468)|Rifampicin(DB01045)|Ritonavir(DB00503)|Rufinamide(DB06201)|S-Adenosylmethionine(DB00118)|Selegiline(DB01037)|Sevoflurane(DB01236)|Sildenafil(DB00203)|Streptozocin(DB00428)|Sulfadiazine(DB00359)|Sulfanilamide(DB00259)|Tamoxifen(DB00675)|Thalidomide(DB01041)|Theobromine(DB01412)|Theophylline(DB00277)|Thiopental(DB00599)|Thioridazine(DB00679)|Ticlopidine(DB00208)|Tioconazole(DB01007)|Trabectedin(DB05109)|Tranylcypromine(DB00752)|Trimethadione(DB00347)|Ursodeoxycholic acid(DB01586)|Zafirlukast(DB00549)|Zopiclone(DB01198)	CGTTCCATGCGCACAGGGACA	0.662									Naso-/Oropharyngeal/Laryngeal Cancer, Familial Clustering of																																								0													68.0	55.0	59.0					10																	135342131		2203	4300	6503	SO:0001819	synonymous_variant	0	Familial Cancer Database	incl.: Familial Head and Neck Cancer	J02843	CCDS7686.1	10q26.3	2013-05-03	2003-01-14	2002-09-13	ENSG00000130649	ENSG00000130649		"""Cytochrome P450s"""	2631	protein-coding gene	gene with protein product		124040	"""cytochrome P450, subfamily IIE (ethanol-inducible), polypeptide 1"""	CYP2E			Standard	NM_000773		Approved		uc001lnj.1	P05181	OTTHUMG00000019322	ENST00000463117.2:c.324G>A	10.37:g.135342131G>A			Q5VZD5|Q6NWT9|Q9UK47	Silent	SNP	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-I_CYP2E-like,prints_Cyt_P450,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450_B	p.A108	ENST00000463117.2	37	c.324	CCDS7686.1	10																																																																																			CYP2E1	-	pfam_Cyt_P450,superfamily_Cyt_P450	ENSG00000130649		0.662	CYP2E1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP2E1	HGNC	protein_coding	OTTHUMT00000051161.2		0.00	29	0	G	NM_000773		135342131	+1			no_errors	ENST00000252945	ensembl	human	known	74_37	silent	21.43	11	3	SNP	0.000	A
DNAH9	1770	genome.wustl.edu	37	17	11659897	11659897	+	Missense_Mutation	SNP	G	G	A			TCGA-R6-A6L4-01A-11D-A31U-09	TCGA-R6-A6L4-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	73e30098-463c-4d83-b6f7-dcc43fad6592	3fc2bd45-8cf9-420d-b900-a0fee703731d	g.chr17:11659897G>A	ENST00000262442.4	+	34	6819	c.6751G>A	c.(6751-6753)Gcc>Acc	p.A2251T	DNAH9_ENST00000454412.2_Missense_Mutation_p.A2251T	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	2251	AAA 2. {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)		GCTGACATTGGCCAGCAATGA	0.547																																																	0													132.0	127.0	129.0					17																	11659897		2203	4300	6503	SO:0001583	missense	0			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.6751G>A	17.37:g.11659897G>A	ENSP00000262442:p.Ala2251Thr		A2VCQ8|O15064|O95494|Q9NQ28	Missense_Mutation	SNP	pfam_Dynein_heavy_dom,pfam_Dynein_heavy_dom-1,pfam_Dynein_heavy_dom-2,pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase	p.A2251T	ENST00000262442.4	37	c.6751	CCDS11160.1	17	.	.	.	.	.	.	.	.	.	.	G	29.2	4.983077	0.93044	.	.	ENSG00000007174	ENST00000262442;ENST00000454412;ENST00000413703	T;T	0.55234	0.53;0.53	5.89	4.91	0.64330	ATPase, AAA+ type, core (1);ATPase, dynein-related, AAA domain (1);	0.062486	0.64402	D	0.000005	T	0.72053	0.3413	M	0.76727	2.345	0.80722	D	1	D	0.60575	0.988	D	0.68192	0.956	T	0.76751	-0.2844	10	0.87932	D	0	.	16.455	0.84009	0.0:0.0:0.8676:0.1324	.	2251	Q9NYC9	DYH9_HUMAN	T	2251;2251;833	ENSP00000262442:A2251T;ENSP00000414874:A2251T	ENSP00000262442:A2251T	A	+	1	0	DNAH9	11600622	1.000000	0.71417	0.997000	0.53966	0.844000	0.47949	8.011000	0.88624	1.483000	0.48342	0.585000	0.79938	GCC	DNAH9	-	pfam_ATPase_dyneun-rel_AAA,superfamily_P-loop_NTPase,smart_AAA+_ATPase	ENSG00000007174		0.547	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DNAH9	HGNC	protein_coding	OTTHUMT00000252756.2		0.00	47	0	G	NM_001372		11659897	+1			no_errors	ENST00000262442	ensembl	human	known	74_37	missense	19.05	17	4	SNP	1.000	A
DNM1P47	100216544	genome.wustl.edu	37	15	102299973	102299973	+	RNA	SNP	T	T	C	rs368838103		TCGA-R6-A6L4-01A-11D-A31U-09	TCGA-R6-A6L4-10A-01D-A31U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	73e30098-463c-4d83-b6f7-dcc43fad6592	3fc2bd45-8cf9-420d-b900-a0fee703731d	g.chr15:102299973T>C	ENST00000561463.1	+	0	8019									DNM1 pseudogene 47																		GTCCAACCTGTACTCGCGTGG	0.592																																																	0																																												0			AJ576276		15q26.3	2013-04-25			ENSG00000259660	ENSG00000259660			35200	pseudogene	pseudogene				DNM1DN14@			Standard	NG_009149		Approved	DNM1DN14-3			OTTHUMG00000172265		15.37:g.102299973T>C				RNA	SNP	-	NULL	ENST00000561463.1	37	NULL		15																																																																																			DNM1P47	-	-	ENSG00000259660		0.592	DNM1P47-001	KNOWN	basic	processed_transcript	DNM1P47	HGNC	pseudogene	OTTHUMT00000417589.1		0.00	68	0	T	NG_009149		102299973	+1			no_errors	ENST00000561463	ensembl	human	known	74_37	rna	18.52	44	10	SNP	1.000	C
DOCK2	1794	genome.wustl.edu	37	5	169108760	169108760	+	Silent	SNP	T	T	C			TCGA-R6-A6L4-01A-11D-A31U-09	TCGA-R6-A6L4-10A-01D-A31U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	73e30098-463c-4d83-b6f7-dcc43fad6592	3fc2bd45-8cf9-420d-b900-a0fee703731d	g.chr5:169108760T>C	ENST00000256935.8	+	7	563	c.483T>C	c.(481-483)ctT>ctC	p.L161L		NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	161					actin cytoskeleton organization (GO:0030036)|alpha-beta T cell proliferation (GO:0046633)|chemotaxis (GO:0006935)|establishment of T cell polarity (GO:0001768)|immunological synapse formation (GO:0001771)|macropinocytosis (GO:0044351)|membrane raft polarization (GO:0001766)|myeloid dendritic cell activation involved in immune response (GO:0002277)|negative thymic T cell selection (GO:0045060)|positive regulation of phagocytosis (GO:0050766)|positive thymic T cell selection (GO:0045059)|regulation of defense response to virus by virus (GO:0050690)|small GTPase mediated signal transduction (GO:0007264)|viral process (GO:0016032)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rac GTPase activator activity (GO:0030675)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|T cell receptor binding (GO:0042608)			NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			TCCTTGAGCTTGATTTGATTG	0.408																																																	0													150.0	143.0	146.0					5																	169108760		2203	4300	6503	SO:0001819	synonymous_variant	0			BC016996	CCDS4371.1	5q35.1	2008-02-05			ENSG00000134516	ENSG00000134516			2988	protein-coding gene	gene with protein product		603122	"""dedicator of cyto-kinesis 2"""				Standard	NM_004946		Approved	KIAA0209	uc003maf.3	Q92608	OTTHUMG00000130437	ENST00000256935.8:c.483T>C	5.37:g.169108760T>C			Q2M3I0|Q96AK7	Silent	SNP	pfam_DOCK_C,pfam_SH3_2,superfamily_SH3_domain,superfamily_Cyt_c-like_dom,superfamily_ARM-type_fold,superfamily_Ferritin-like_SF,smart_SH3_domain,pfscan_SH3_domain	p.L161	ENST00000256935.8	37	c.483	CCDS4371.1	5																																																																																			DOCK2	-	NULL	ENSG00000134516		0.408	DOCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DOCK2	HGNC	protein_coding	OTTHUMT00000252828.2		0.00	70	0	T	NM_004946		169108760	+1			no_errors	ENST00000256935	ensembl	human	known	74_37	silent	7.55	49	4	SNP	0.029	C
DUSP10	11221	genome.wustl.edu	37	1	221912696	221912696	+	Missense_Mutation	SNP	T	T	G			TCGA-R6-A6L4-01A-11D-A31U-09	TCGA-R6-A6L4-10A-01D-A31U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	73e30098-463c-4d83-b6f7-dcc43fad6592	3fc2bd45-8cf9-420d-b900-a0fee703731d	g.chr1:221912696T>G	ENST00000366899.3	-	2	629	c.391A>C	c.(391-393)Agt>Cgt	p.S131R	DUSP10_ENST00000544095.1_5'Flank|DUSP10_ENST00000468085.1_5'Flank|DUSP10_ENST00000323825.3_Intron	NM_007207.4	NP_009138.1	Q9Y6W6	DUS10_HUMAN	dual specificity phosphatase 10	131					inactivation of MAPK activity (GO:0000188)|JNK cascade (GO:0007254)|negative regulation of JNK cascade (GO:0046329)|negative regulation of JUN kinase activity (GO:0043508)|negative regulation of respiratory burst involved in inflammatory response (GO:0060266)|oligodendrocyte differentiation (GO:0048709)|protein dephosphorylation (GO:0006470)|regulation of adaptive immune response (GO:0002819)|response to lipopolysaccharide (GO:0032496)|response to stress (GO:0006950)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	MAP kinase phosphatase activity (GO:0033549)|MAP kinase tyrosine/serine/threonine phosphatase activity (GO:0017017)|phosphatase activity (GO:0016791)|phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			NS(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				GBM - Glioblastoma multiforme(131;0.0103)		CCCACCCCACTTGATGGACTT	0.527																																																	0													80.0	72.0	75.0					1																	221912696		2203	4300	6503	SO:0001583	missense	0			AB026436	CCDS1528.1	1q41	2011-06-09			ENSG00000143507	ENSG00000143507		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : MAP kinase phosphatases"""	3065	protein-coding gene	gene with protein product		608867				10391943, 10597297	Standard	NM_007207		Approved	MKP-5, MKP5	uc001hmy.2	Q9Y6W6	OTTHUMG00000037269	ENST00000366899.3:c.391A>C	1.37:g.221912696T>G	ENSP00000355866:p.Ser131Arg		D3DTB4|Q6GSI4|Q9H9Z5	Missense_Mutation	SNP	pfam_Dual-sp_phosphatase_cat-dom,pfam_Rhodanese-like_dom,superfamily_Rhodanese-like_dom,superfamily_Blood-coag_inhib_Disintegrin,smart_Rhodanese-like_dom,smart_Dual-sp_phosphatase_subgr_cat,pfscan_Rhodanese-like_dom,pfscan_Tyr/Dual-sp_Pase,pfscan_Dual-sp_phosphatase_subgr_cat,prints_MKP,prints_Atypical_DUSP	p.S131R	ENST00000366899.3	37	c.391	CCDS1528.1	1	.	.	.	.	.	.	.	.	.	.	T	12.01	1.809901	0.31961	.	.	ENSG00000143507	ENST00000366899;ENST00000418487	T	0.02446	4.29	5.76	2.8	0.32819	.	0.209077	0.43579	D	0.000548	T	0.01905	0.0060	N	0.14661	0.345	0.54753	D	0.999989	B	0.11235	0.004	B	0.15484	0.013	T	0.53933	-0.8368	10	0.41790	T	0.15	.	5.8296	0.18572	0.1346:0.6535:0.0:0.2118	.	131	Q9Y6W6	DUS10_HUMAN	R	131;76	ENSP00000355866:S131R	ENSP00000355866:S131R	S	-	1	0	DUSP10	219979319	0.010000	0.17322	0.971000	0.41717	0.974000	0.67602	0.893000	0.28336	0.765000	0.33221	-0.202000	0.12741	AGT	DUSP10	-	NULL	ENSG00000143507		0.527	DUSP10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DUSP10	HGNC	protein_coding	OTTHUMT00000090716.1		0.00	57	0	T	NM_007207		221912696	-1			no_errors	ENST00000366899	ensembl	human	known	74_37	missense	30.36	39	17	SNP	0.688	G
ECT2L	345930	genome.wustl.edu	37	6	139170551	139170551	+	Missense_Mutation	SNP	G	G	C			TCGA-R6-A6L4-01A-11D-A31U-09	TCGA-R6-A6L4-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	73e30098-463c-4d83-b6f7-dcc43fad6592	3fc2bd45-8cf9-420d-b900-a0fee703731d	g.chr6:139170551G>C	ENST00000423192.1	+	8	1210	c.1049G>C	c.(1048-1050)aGa>aCa	p.R350T	ECT2L_ENST00000495970.1_3'UTR|ECT2L_ENST00000541398.1_Missense_Mutation_p.R281T|ECT2L_ENST00000367682.2_Missense_Mutation_p.R350T			Q008S8	ECT2L_HUMAN	epithelial cell transforming 2 like	350							Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(7)|lung(12)|skin(1)|upper_aerodigestive_tract(1)	30						GGAGACAGCAGAGAAATCAAT	0.488			"""N, Splice, Mis"""		ETP ALL																																			Rec	yes		6	6q24.1	345930	epithelial cell transforming sequence 2 oncogene-like		L	0													86.0	82.0	84.0					6																	139170551		1926	4143	6069	SO:0001583	missense	0				CCDS43508.1	6q24.1	2014-03-11	2014-03-11		ENSG00000203734	ENSG00000203734		"""Rho guanine nucleotide exchange factors"", ""F-boxes /  ""other"""""	21118	protein-coding gene	gene with protein product	"""lung specific F-box and DH domain containing protein"", ""F-box protein 49"""		"""chromosome 6 open reading frame 91"", ""epithelial cell transforming sequence 2 oncogene-like"""	C6orf91			Standard	NM_001077706		Approved	ARHGEF32, FBXO49, LFDH	uc021zfx.1	Q008S8	OTTHUMG00000015679	ENST00000423192.1:c.1049G>C	6.37:g.139170551G>C	ENSP00000387388:p.Arg350Thr		B2RUV6|Q5JWK2|Q5JWK3|Q5JWK4	Missense_Mutation	SNP	pfam_DH-domain,pfam_F-box_dom,superfamily_DH-domain,superfamily_F-box_dom,smart_DH-domain,pfscan_DH-domain	p.R350T	ENST00000423192.1	37	c.1049	CCDS43508.1	6	.	.	.	.	.	.	.	.	.	.	G	15.17	2.753207	0.49362	.	.	ENSG00000203734	ENST00000423192;ENST00000367682;ENST00000541398	T;T;T	0.75589	0.16;0.16;-0.95	5.53	5.53	0.82687	.	0.265700	0.23487	U	0.047651	T	0.81093	0.4751	M	0.68317	2.08	0.33898	D	0.638146	D;D	0.76494	0.999;0.999	D;D	0.75484	0.986;0.986	T	0.79366	-0.1833	10	0.35671	T	0.21	-4.3043	16.7427	0.85464	0.0:0.0:1.0:0.0	.	281;350	F5H7S9;Q008S8	.;ECT2L_HUMAN	T	350;350;281	ENSP00000387388:R350T;ENSP00000356655:R350T;ENSP00000442307:R281T	ENSP00000356655:R350T	R	+	2	0	ECT2L	139212244	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	2.809000	0.47971	2.758000	0.94735	0.591000	0.81541	AGA	ECT2L	-	NULL	ENSG00000203734		0.488	ECT2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ECT2L	HGNC	protein_coding	OTTHUMT00000042441.3		0.00	50	0	G	NM_001077706		139170551	+1			no_errors	ENST00000367682	ensembl	human	known	74_37	missense	45.95	19	17	SNP	1.000	C
EDNRA	1909	genome.wustl.edu	37	4	148453698	148453698	+	Missense_Mutation	SNP	G	G	T			TCGA-R6-A6L4-01A-11D-A31U-09	TCGA-R6-A6L4-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	73e30098-463c-4d83-b6f7-dcc43fad6592	3fc2bd45-8cf9-420d-b900-a0fee703731d	g.chr4:148453698G>T	ENST00000324300.5	+	4	1104	c.589G>T	c.(589-591)Ggg>Tgg	p.G197W	EDNRA_ENST00000511804.1_5'UTR|EDNRA_ENST00000503721.1_3'UTR|EDNRA_ENST00000506066.1_Intron|EDNRA_ENST00000358556.4_Intron|EDNRA_ENST00000339690.5_Missense_Mutation_p.W154L	NM_001957.3	NP_001948.1	P25101	EDNRA_HUMAN	endothelin receptor type A	197					activation of adenylate cyclase activity (GO:0007190)|activation of phospholipase C activity (GO:0007202)|aging (GO:0007568)|artery smooth muscle contraction (GO:0014824)|cell proliferation (GO:0008283)|cellular response to mechanical stimulus (GO:0071260)|endothelin receptor signaling pathway (GO:0086100)|enteric nervous system development (GO:0048484)|fibroblast proliferation (GO:0048144)|G-protein coupled receptor signaling pathway (GO:0007186)|glomerular filtration (GO:0003094)|glucose transport (GO:0015758)|head development (GO:0060322)|heart development (GO:0007507)|histamine secretion (GO:0001821)|in utero embryonic development (GO:0001701)|maternal process involved in parturition (GO:0060137)|metabolic process (GO:0008152)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cAMP biosynthetic process (GO:0030818)|neural crest cell development (GO:0014032)|patterning of blood vessels (GO:0001569)|penile erection (GO:0043084)|positive regulation of cell proliferation (GO:0008284)|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)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of inflammatory response (GO:0050729)|positive regulation of kidney development (GO:0090184)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of odontogenesis (GO:0042482)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of blood pressure (GO:0008217)|regulation of epithelial cell proliferation (GO:0050678)|respiratory gaseous exchange (GO:0007585)|response to hypoxia (GO:0001666)|response to lipopolysaccharide (GO:0032496)|response to morphine (GO:0043278)|Rho protein signal transduction (GO:0007266)|sensory perception of pain (GO:0019233)|signal transduction (GO:0007165)|smooth muscle cell proliferation (GO:0048659)|smooth muscle contraction (GO:0006939)|vasoconstriction (GO:0042310)	integral component of plasma membrane (GO:0005887)|nuclear membrane (GO:0031965)|plasma membrane (GO:0005886)|T-tubule (GO:0030315)	endothelin receptor activity (GO:0004962)|phosphatidylinositol phospholipase C activity (GO:0004435)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(3)|ovary(1)	17	all_hematologic(180;0.151)			GBM - Glioblastoma multiforme(119;0.154)	Acetylsalicylic acid(DB00945)|Bosentan(DB00559)|MACITENTAN(DB08932)|Sitaxentan(DB06268)	TCAGGGAATTGGGATTCCTTT	0.423																																																	0													177.0	163.0	168.0					4																	148453698		2203	4300	6503	SO:0001583	missense	0			D90348	CCDS3769.1, CCDS54810.1, CCDS58927.1	4q31.22	2013-09-20			ENSG00000151617	ENSG00000151617		"""GPCR / Class A : Endothelin receptors"""	3179	protein-coding gene	gene with protein product		131243				1659806	Standard	NM_001957		Approved		uc003iky.3	P25101	OTTHUMG00000161354	ENST00000324300.5:c.589G>T	4.37:g.148453698G>T	ENSP00000315011:p.Gly197Trp		B2R723|B4E2V6|B7Z9G6|D3DP03|E7ER36|O43441|Q16432|Q16433|Q8TBH2	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_ETA_rcpt,prints_Endthln_rcpt,prints_GPCR_Rhodpsn	p.G197W	ENST00000324300.5	37	c.589	CCDS3769.1	4	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	26.5|26.5	4.747665|4.747665	0.89663|0.89663	.|.	.|.	ENSG00000151617|ENSG00000151617	ENST00000324300|ENST00000339690	T|D	0.37235|0.83914	1.21|-1.78	5.55|5.55	5.55|5.55	0.83447|0.83447	GPCR, rhodopsin-like superfamily (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.88537|0.88537	0.6463|0.6463	H|H	0.94385|0.94385	3.53|3.53	0.43667|0.43667	D|D	0.996093|0.996093	D|B	0.67145|0.24043	0.996|0.096	D|B	0.68039|0.23852	0.955|0.049	D|D	0.86437|0.86437	0.1764|0.1764	10|9	0.87932|0.33141	D|T	0|0.24	-14.786|-14.786	19.4992|19.4992	0.95086|0.95086	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	197|154	P25101|P25101-2	EDNRA_HUMAN|.	W|L	197|154	ENSP00000315011:G197W|ENSP00000341556:W154L	ENSP00000315011:G197W|ENSP00000341556:W154L	G|W	+|+	1|2	0|0	EDNRA|EDNRA	148673148|148673148	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.977000|0.977000	0.68977|0.68977	9.471000|9.471000	0.97696|0.97696	2.604000|2.604000	0.88044|0.88044	0.557000|0.557000	0.71058|0.71058	GGG|TGG	EDNRA	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Endthln_rcpt	ENSG00000151617		0.423	EDNRA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EDNRA	HGNC	protein_coding	OTTHUMT00000364635.1		0.00	56	0	G			148453698	+1			no_errors	ENST00000324300	ensembl	human	known	74_37	missense	66.67	7	14	SNP	1.000	T
EFCAB6	64800	genome.wustl.edu	37	22	44083441	44083441	+	Missense_Mutation	SNP	G	G	T			TCGA-R6-A6L4-01A-11D-A31U-09	TCGA-R6-A6L4-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	73e30098-463c-4d83-b6f7-dcc43fad6592	3fc2bd45-8cf9-420d-b900-a0fee703731d	g.chr22:44083441G>T	ENST00000262726.7	-	11	1305	c.1052C>A	c.(1051-1053)aCt>aAt	p.T351N	EFCAB6_ENST00000396231.2_Missense_Mutation_p.T199N|EFCAB6_ENST00000358439.4_Intron	NM_022785.3	NP_073622.2	Q5THR3	EFCB6_HUMAN	EF-hand calcium binding domain 6	351			T -> A (in dbSNP:rs5764214). {ECO:0000269|PubMed:14702039}.		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)				ATTGATTTTAGTGGTGGCTTT	0.328																																																	0													59.0	59.0	59.0					22																	44083441		2203	4300	6503	SO:0001583	missense	0			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.1052C>A	22.37:g.44083441G>T	ENSP00000262726:p.Thr351Asn		A8K8P6|A8K8Y3|B0QYI4|B0QYI6|Q5U5T6|Q9BY88|Q9H5C4|Q9NSF5	Missense_Mutation	SNP	pfam_EF_hand_Ca-bd_contain_6,smart_EF_hand_dom,pfscan_EF_hand_dom	p.T351N	ENST00000262726.7	37	c.1052	CCDS14049.1	22	.	.	.	.	.	.	.	.	.	.	G	0.575	-0.839480	0.02692	.	.	ENSG00000186976	ENST00000396231;ENST00000262726	T;T	0.07021	3.23;3.23	4.68	-5.81	0.02340	.	1.984030	0.02128	N	0.056195	T	0.10852	0.0265	L	0.57536	1.79	0.09310	N	1	B;B	0.15141	0.012;0.01	B;B	0.13407	0.009;0.008	T	0.40553	-0.9557	10	0.18710	T	0.47	0.2565	15.1856	0.72999	0.0:0.7186:0.1692:0.1122	.	351;351	Q5THR3-6;Q5THR3	.;EFCB6_HUMAN	N	199;351	ENSP00000379533:T199N;ENSP00000262726:T351N	ENSP00000262726:T351N	T	-	2	0	EFCAB6	42414774	0.000000	0.05858	0.000000	0.03702	0.957000	0.61999	-1.200000	0.03029	-0.566000	0.06054	0.655000	0.94253	ACT	EFCAB6	-	NULL	ENSG00000186976		0.328	EFCAB6-010	KNOWN	basic|appris_principal|CCDS	protein_coding	EFCAB6	HGNC	protein_coding	OTTHUMT00000353176.1		0.00	158	0	G	NM_022785		44083441	-1			no_errors	ENST00000262726	ensembl	human	known	74_37	missense	38.96	47	30	SNP	0.000	T
ELP2	55250	genome.wustl.edu	37	18	33750130	33750130	+	Silent	SNP	C	C	T			TCGA-R6-A6L4-01A-11D-A31U-09	TCGA-R6-A6L4-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	73e30098-463c-4d83-b6f7-dcc43fad6592	3fc2bd45-8cf9-420d-b900-a0fee703731d	g.chr18:33750130C>T	ENST00000358232.6	+	20	2244	c.2181C>T	c.(2179-2181)agC>agT	p.S727S	ELP2_ENST00000423854.2_Silent_p.S657S|ELP2_ENST00000542824.1_Silent_p.S657S|ELP2_ENST00000351393.6_Silent_p.S701S|ELP2_ENST00000350494.6_Silent_p.S722S|ELP2_ENST00000442325.2_Silent_p.S792S	NM_018255.2	NP_060725.1	Q6IA86	ELP2_HUMAN	elongator acetyltransferase complex subunit 2	727					chromatin organization (GO:0006325)|regulation of JAK-STAT cascade (GO:0046425)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription elongation from RNA polymerase II promoter (GO:0006368)	cytoplasm (GO:0005737)|DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|Elongator holoenzyme complex (GO:0033588)|nucleolus (GO:0005730)|transcription elongation factor complex (GO:0008023)				NS(1)|breast(4)|kidney(2)|large_intestine(8)|lung(10)|ovary(1)|skin(2)|urinary_tract(2)	30						CAGCTGTCAGCGTCTGCCCAG	0.532																																																	0													161.0	128.0	139.0					18																	33750130		2203	4300	6503	SO:0001819	synonymous_variant	0			AK001741	CCDS11918.1, CCDS56065.1, CCDS56066.1, CCDS56067.1, CCDS56068.1, CCDS56069.1	18q12.1	2013-01-10	2012-08-08	2007-04-20	ENSG00000134759	ENSG00000134759		"""Elongator acetyltransferase complex subunits"", ""WD repeat domain containing"""	18248	protein-coding gene	gene with protein product			"""signal transducer and activator of transcription 3 interacting protein 1"", ""elongation protein 2 homolog (S. cerevisiae)"""	STATIP1		11714725, 10954736	Standard	NM_001242875		Approved	FLJ10879, StIP	uc002kzk.2	Q6IA86	OTTHUMG00000132589	ENST00000358232.6:c.2181C>T	18.37:g.33750130C>T			A8KAI6|B4DTG0|B4DXP0|E7EP23|E9PCX0|Q53GZ0|Q687Y8|Q8N5C2|Q96GV4|Q96PI7|Q9H9N0|Q9NV81	Silent	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.S727	ENST00000358232.6	37	c.2181	CCDS11918.1	18																																																																																			ELP2	-	superfamily_WD40_repeat_dom	ENSG00000134759		0.532	ELP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ELP2	HGNC	protein_coding	OTTHUMT00000255800.2		0.00	87	0	C	NM_018255		33750130	+1			no_errors	ENST00000358232	ensembl	human	known	74_37	silent	7.69	48	4	SNP	0.081	T
EP300	2033	genome.wustl.edu	37	22	41536233	41536233	+	Missense_Mutation	SNP	G	G	T			TCGA-R6-A6L4-01A-11D-A31U-09	TCGA-R6-A6L4-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	73e30098-463c-4d83-b6f7-dcc43fad6592	3fc2bd45-8cf9-420d-b900-a0fee703731d	g.chr22:41536233G>T	ENST00000263253.7	+	9	3069	c.1850G>T	c.(1849-1851)gGg>gTg	p.G617V		NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300	617	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						AAAGTTGAAGGGGACATGTAT	0.408			"""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													169.0	170.0	170.0					22																	41536233		2203	4300	6503	SO:0001583	missense	0	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.1850G>T	22.37:g.41536233G>T	ENSP00000263253:p.Gly617Val		B1AKC2	Missense_Mutation	SNP	pfam_Histone_H3-K56_AcTrfase_RTT109,pfam_Nuc_rcpt_coact_CREBbp,pfam_KIX_dom,pfam_DUF902_CREBbp,pfam_Znf_TAZ,pfam_Bromodomain,pfam_Znf_ZZ,superfamily_Bromodomain,superfamily_Znf_TAZ,superfamily_KIX_dom,superfamily_Nuc_rcpt_coact,superfamily_Znf_FYVE_PHD,smart_Znf_TAZ,smart_Bromodomain,smart_Znf_ZZ,pfscan_KIX_dom,pfscan_Znf_TAZ,pfscan_Znf_ZZ,pfscan_Bromodomain,prints_Bromodomain	p.G617V	ENST00000263253.7	37	c.1850	CCDS14010.1	22	.	.	.	.	.	.	.	.	.	.	G	28.8	4.952994	0.92660	.	.	ENSG00000100393	ENST00000263253	D	0.85171	-1.95	5.29	5.29	0.74685	Coactivator CBP, KIX (4);	0.000000	0.49305	D	0.000143	D	0.92126	0.7504	M	0.72479	2.2	0.80722	D	1	D	0.65815	0.995	D	0.79108	0.992	D	0.92636	0.6120	10	0.87932	D	0	-6.9567	19.2942	0.94115	0.0:0.0:1.0:0.0	.	617	Q09472	EP300_HUMAN	V	617	ENSP00000263253:G617V	ENSP00000263253:G617V	G	+	2	0	EP300	39866179	1.000000	0.71417	1.000000	0.80357	0.861000	0.49209	9.813000	0.99286	2.627000	0.88993	0.467000	0.42956	GGG	EP300	-	pfam_KIX_dom,superfamily_KIX_dom,pfscan_KIX_dom	ENSG00000100393		0.408	EP300-001	KNOWN	basic|appris_principal|CCDS	protein_coding	EP300	HGNC	protein_coding	OTTHUMT00000320600.1		0.00	117	0	G	NM_001429		41536233	+1			no_errors	ENST00000263253	ensembl	human	known	74_37	missense	5.00	76	4	SNP	1.000	T
ERBB4	2066	genome.wustl.edu	37	2	212812223	212812223	+	Missense_Mutation	SNP	G	G	T			TCGA-R6-A6L4-01A-11D-A31U-09	TCGA-R6-A6L4-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	73e30098-463c-4d83-b6f7-dcc43fad6592	3fc2bd45-8cf9-420d-b900-a0fee703731d	g.chr2:212812223G>T	ENST00000342788.4	-	3	663	c.353C>A	c.(352-354)gCa>gAa	p.A118E	ERBB4_ENST00000484474.1_5'UTR|ERBB4_ENST00000402597.1_Missense_Mutation_p.A118E|ERBB4_ENST00000436443.1_Missense_Mutation_p.A118E	NM_005235.2	NP_005226.1	Q15303	ERBB4_HUMAN	v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 4	118					cardiac muscle tissue regeneration (GO:0061026)|cell fate commitment (GO:0045165)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system morphogenesis (GO:0021551)|embryonic pattern specification (GO:0009880)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|heart development (GO:0007507)|innate immune response (GO:0045087)|lactation (GO:0007595)|mammary gland alveolus development (GO:0060749)|mammary gland epithelial cell differentiation (GO:0060644)|mitochondrial fragmentation involved in apoptotic process (GO:0043653)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neural crest cell migration (GO:0001755)|neurotrophin TRK receptor signaling pathway (GO:0048011)|olfactory bulb interneuron differentiation (GO:0021889)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell proliferation (GO:0008284)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of STAT protein import into nucleus (GO:2000366)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|protein autophosphorylation (GO:0046777)|regulation of cell migration (GO:0030334)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	basolateral plasma membrane (GO:0016323)|cytosol (GO:0005829)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|epidermal growth factor receptor binding (GO:0005154)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transcription regulatory region DNA binding (GO:0044212)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			NS(1)|breast(7)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(31)|lung(71)|pancreas(1)|prostate(3)|skin(39)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	179		Renal(323;0.06)|Lung NSC(271;0.197)		UCEC - Uterine corpus endometrioid carcinoma (47;0.214)|Epithelial(149;5.86e-06)|all cancers(144;2.95e-05)|Lung(261;0.00244)|LUSC - Lung squamous cell carcinoma(224;0.00266)	Afatinib(DB08916)	TAAAAATATTGCCAAGGCATA	0.373										TSP Lung(8;0.080)																																							0													113.0	108.0	110.0					2																	212812223		2203	4300	6503	SO:0001583	missense	0			L07868	CCDS2394.1, CCDS42811.1	2q33.3-q34	2013-10-11	2013-07-09		ENSG00000178568	ENSG00000178568			3432	protein-coding gene	gene with protein product		600543	"""v-erb-a avian erythroblastic leukemia viral oncogene homolog-like 4"""			7700649, 17018285	Standard	NM_001042599		Approved	ALS19	uc002veg.1	Q15303	OTTHUMG00000133012	ENST00000342788.4:c.353C>A	2.37:g.212812223G>T	ENSP00000342235:p.Ala118Glu		B7ZLD7|B7ZLE2|B7ZLE3|Q2M1W1|Q59EW4	Missense_Mutation	SNP	pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_EGF_rcpt_L,pfam_Prot_kinase_dom,pfam_Furin-like_Cys-rich_dom,superfamily_Kinase-like_dom,superfamily_Growth_fac_rcpt_N_dom,smart_Furin_repeat,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_dom	p.A118E	ENST00000342788.4	37	c.353	CCDS2394.1	2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	24.7|24.7	4.559461|4.559461	0.86335|0.86335	.|.	.|.	ENSG00000178568|ENSG00000178568	ENST00000342788;ENST00000436443;ENST00000402597;ENST00000435846|ENST00000260943	T;T;T;T|.	0.80480|.	-1.38;-1.38;-1.38;-1.38|.	5.54|5.54	5.54|5.54	0.83059|0.83059	EGF receptor, L domain (1);|.	0.101382|.	0.64402|.	D|.	0.000002|.	D|D	0.82393|0.82393	0.5027|0.5027	M|M	0.82323|0.82323	2.585|2.585	0.58432|0.58432	D|D	0.999995|0.999995	D;D;D;D|.	0.89917|.	1.0;0.999;1.0;1.0|.	D;D;D;D|.	0.91635|.	0.998;0.966;0.998;0.999|.	T|T	0.82991|0.82991	-0.0182|-0.0182	10|5	0.56958|.	D|.	0.05|.	.|.	19.4961|19.4961	0.95073|0.95073	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	118;118;118;118|.	Q15303-4;Q15303-2;Q15303-3;Q15303|.	.;.;.;ERBB4_HUMAN|.	E|K	118;118;118;59|118	ENSP00000342235:A118E;ENSP00000403204:A118E;ENSP00000385565:A118E;ENSP00000405564:A59E|.	ENSP00000342235:A118E|.	A|Q	-|-	2|1	0|0	ERBB4|ERBB4	212520468|212520468	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	6.596000|6.596000	0.74113|0.74113	2.601000|2.601000	0.87937|0.87937	0.557000|0.557000	0.71058|0.71058	GCA|CAA	ERBB4	-	pirsf_Tyr_kinase_EGF/ERB/XmrK_rcpt,pfam_EGF_rcpt_L	ENSG00000178568		0.373	ERBB4-001	KNOWN	basic|CCDS	protein_coding	ERBB4	HGNC	protein_coding	OTTHUMT00000256597.1		0.00	79	0	G	NM_001042599		212812223	-1			no_errors	ENST00000342788	ensembl	human	known	74_37	missense	26.67	33	12	SNP	1.000	T
FASLG	356	genome.wustl.edu	37	1	172634916	172634916	+	Silent	SNP	C	C	T			TCGA-R6-A6L4-01A-11D-A31U-09	TCGA-R6-A6L4-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	73e30098-463c-4d83-b6f7-dcc43fad6592	3fc2bd45-8cf9-420d-b900-a0fee703731d	g.chr1:172634916C>T	ENST00000367721.2	+	4	790	c.606C>T	c.(604-606)tgC>tgT	p.C202C	FASLG_ENST00000340030.3_3'UTR	NM_000639.1	NP_000630.1	P48023	TNFL6_HUMAN	Fas ligand (TNF superfamily, member 6)	202					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cell-cell signaling (GO:0007267)|cellular chloride ion homeostasis (GO:0030644)|endosomal lumen acidification (GO:0048388)|extrinsic apoptotic signaling pathway (GO:0097191)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|immune response (GO:0006955)|inflammatory cell apoptotic process (GO:0006925)|necroptotic process (GO:0070266)|necroptotic signaling pathway (GO:0097527)|negative regulation of angiogenesis (GO:0016525)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell apoptotic process (GO:2000353)|positive regulation of epidermal growth factor receptor signaling pathway (GO:0045742)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of neuron apoptotic process (GO:0043525)|regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001239)|response to growth factor (GO:0070848)|response to lipopolysaccharide (GO:0032496)|retinal cell programmed cell death (GO:0046666)|signal transduction (GO:0007165)|T cell apoptotic process (GO:0070231)|transcription, DNA-templated (GO:0006351)	caveola (GO:0005901)|cytoplasmic membrane-bounded vesicle (GO:0016023)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|lysosome (GO:0005764)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	receptor binding (GO:0005102)			breast(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(12)|prostate(1)|skin(1)	19						GTCAATCTTGCAACAACCTGC	0.473																																					Ovarian(28;486 876 30334 44033)												0													123.0	115.0	118.0					1																	172634916		2203	4300	6503	SO:0001819	synonymous_variant	0			U11821	CCDS1304.1	1q23	2014-09-17	2005-01-07	2005-01-07	ENSG00000117560	ENSG00000117560		"""Tumor necrosis factor (ligand) superfamily"", ""CD molecules"", ""Endogenous ligands"""	11936	protein-coding gene	gene with protein product		134638	"""tumor necrosis factor (ligand) superfamily, member 6"""	APT1LG1, TNFSF6		7826947, 9022072	Standard	NM_000639		Approved	FasL, CD178	uc001gis.3	P48023	OTTHUMG00000034841	ENST00000367721.2:c.606C>T	1.37:g.172634916C>T			Q9BZP9	Silent	SNP	pfam_TNF_dom,superfamily_Tumour_necrosis_fac-like_dom,smart_TNF_dom,pfscan_TNF_dom,prints_FASL,prints_TNF,prints_TNF_C	p.C202	ENST00000367721.2	37	c.606	CCDS1304.1	1																																																																																			FASLG	-	pfam_TNF_dom,superfamily_Tumour_necrosis_fac-like_dom,smart_TNF_dom,pfscan_TNF_dom	ENSG00000117560		0.473	FASLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FASLG	HGNC	protein_coding	OTTHUMT00000084276.1		0.00	39	0	C			172634916	+1			no_errors	ENST00000367721	ensembl	human	known	74_37	silent	45.00	22	18	SNP	0.243	T
FAM71A	149647	genome.wustl.edu	37	1	212798688	212798688	+	Missense_Mutation	SNP	C	C	G			TCGA-R6-A6L4-01A-11D-A31U-09	TCGA-R6-A6L4-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	73e30098-463c-4d83-b6f7-dcc43fad6592	3fc2bd45-8cf9-420d-b900-a0fee703731d	g.chr1:212798688C>G	ENST00000294829.3	+	1	900	c.469C>G	c.(469-471)Ctt>Gtt	p.L157V	RP11-338C15.5_ENST00000427949.1_RNA	NM_153606.3	NP_705834.2	Q8IYT1	FA71A_HUMAN	family with sequence similarity 71, member A	157						nucleus (GO:0005634)				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(7)|liver(1)|lung(12)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				OV - Ovarian serous cystadenocarcinoma(81;0.00631)|all cancers(67;0.00981)|GBM - Glioblastoma multiforme(131;0.0715)|Epithelial(68;0.094)		GTGTCCCGCTCTTGACACACG	0.502																																																	0													115.0	119.0	118.0					1																	212798688		2203	4300	6503	SO:0001583	missense	0				CCDS1507.1	1q32.3	2008-02-05			ENSG00000162771	ENSG00000162771			26541	protein-coding gene	gene with protein product						12477932	Standard	NM_153606		Approved	FLJ32796	uc010pth.1	Q8IYT1	OTTHUMG00000041084	ENST00000294829.3:c.469C>G	1.37:g.212798688C>G	ENSP00000294829:p.Leu157Val		Q5VTZ1	Missense_Mutation	SNP	pfam_DUF3699	p.L157V	ENST00000294829.3	37	c.469	CCDS1507.1	1	.	.	.	.	.	.	.	.	.	.	C	7.195	0.592347	0.13812	.	.	ENSG00000162771	ENST00000294829	T	0.17054	2.3	4.54	2.67	0.31697	.	0.946097	0.08749	N	0.899310	T	0.26011	0.0634	L	0.43152	1.355	0.09310	N	1	D	0.56287	0.975	P	0.59056	0.851	T	0.14980	-1.0453	10	0.33141	T	0.24	-3.3371	6.4978	0.22152	0.0:0.7876:0.0:0.2124	.	157	Q8IYT1	FA71A_HUMAN	V	157	ENSP00000294829:L157V	ENSP00000294829:L157V	L	+	1	0	FAM71A	210865311	0.000000	0.05858	0.008000	0.14137	0.007000	0.05969	0.869000	0.27996	1.277000	0.44412	0.563000	0.77884	CTT	FAM71A	-	pfam_DUF3699	ENSG00000162771		0.502	FAM71A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FAM71A	HGNC	protein_coding	OTTHUMT00000098529.1		0.00	25	0	C	NM_153606		212798688	+1			no_errors	ENST00000294829	ensembl	human	known	74_37	missense	40.00	12	8	SNP	0.004	G
FBXL13	222235	genome.wustl.edu	37	7	102523840	102523840	+	Missense_Mutation	SNP	C	C	T			TCGA-R6-A6L4-01A-11D-A31U-09	TCGA-R6-A6L4-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	73e30098-463c-4d83-b6f7-dcc43fad6592	3fc2bd45-8cf9-420d-b900-a0fee703731d	g.chr7:102523840C>T	ENST00000313221.4	-	14	1726	c.1300G>A	c.(1300-1302)Gct>Act	p.A434T	FBXL13_ENST00000379305.3_Missense_Mutation_p.A434T|FBXL13_ENST00000455112.2_Missense_Mutation_p.A434T|FBXL13_ENST00000436908.1_Missense_Mutation_p.A434T|FBXL13_ENST00000379306.3_Intron|FBXL13_ENST00000379308.3_Missense_Mutation_p.A434T|FBXL13_ENST00000393772.2_Missense_Mutation_p.A434T|FBXL13_ENST00000456695.1_Intron	NM_145032.3	NP_659469.3	Q8NEE6	FXL13_HUMAN	F-box and leucine-rich repeat protein 13	434										NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|skin(3)|stomach(1)	27						TTGCAGTCAGCCATATAAATG	0.358																																																	0													108.0	104.0	105.0					7																	102523840		2203	4300	6503	SO:0001583	missense	0			BC031285	CCDS5726.1, CCDS47678.1, CCDS75649.1	7q22.1	2014-07-18			ENSG00000161040	ENSG00000161040		"""F-boxes / Leucine-rich repeats"""	21658	protein-coding gene	gene with protein product		609080					Standard	NM_145032		Approved	MGC21636, Fbl13	uc003vaq.2	Q8NEE6	OTTHUMG00000157224	ENST00000313221.4:c.1300G>A	7.37:g.102523840C>T	ENSP00000321927:p.Ala434Thr		C9J565|C9J566|Q6UVW7|Q6UVW8|Q75MN5|Q86UJ5|Q8N7Y4|Q8TCL2|Q8WUF9|Q8WUG0	Missense_Mutation	SNP	smart_Leu-rich_rpt_Cys-con_subtyp,pfscan_F-box_dom	p.A434T	ENST00000313221.4	37	c.1300	CCDS5726.1	7	.	.	.	.	.	.	.	.	.	.	C	4.532	0.098670	0.08681	.	.	ENSG00000161040	ENST00000393772;ENST00000379308;ENST00000379305;ENST00000436908;ENST00000313221;ENST00000455112	T;T;T;T;T;T	0.02498	4.27;4.27;4.27;4.27;4.27;4.27	5.27	1.75	0.24633	.	0.623617	0.14115	N	0.340436	T	0.03390	0.0098	L	0.46157	1.445	0.52501	D	0.999958	B;P;B	0.37158	0.046;0.585;0.413	B;B;B	0.35971	0.086;0.215;0.168	T	0.55347	-0.8155	10	0.34782	T	0.22	.	9.4738	0.38858	0.2655:0.657:0.0:0.0775	.	434;434;434	Q8NEE6-3;Q8NEE6-2;Q8NEE6	.;.;FXL13_HUMAN	T	434	ENSP00000377367:A434T;ENSP00000368610:A434T;ENSP00000368607:A434T;ENSP00000388608:A434T;ENSP00000321927:A434T;ENSP00000391550:A434T	ENSP00000321927:A434T	A	-	1	0	FBXL13	102311076	0.869000	0.29996	0.559000	0.28332	0.072000	0.16883	1.505000	0.35736	0.521000	0.28445	0.655000	0.94253	GCT	FBXL13	-	smart_Leu-rich_rpt_Cys-con_subtyp	ENSG00000161040		0.358	FBXL13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FBXL13	HGNC	protein_coding	OTTHUMT00000348001.1		0.00	27	0	C	NM_145032		102523840	-1			no_errors	ENST00000313221	ensembl	human	known	74_37	missense	16.67	15	3	SNP	0.511	T
FBXW7	55294	genome.wustl.edu	37	4	153247195	153247195	+	Missense_Mutation	SNP	G	G	C			TCGA-R6-A6L4-01A-11D-A31U-09	TCGA-R6-A6L4-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	73e30098-463c-4d83-b6f7-dcc43fad6592	3fc2bd45-8cf9-420d-b900-a0fee703731d	g.chr4:153247195G>C	ENST00000281708.4	-	10	2836	c.1607C>G	c.(1606-1608)aCg>aGg	p.T536R	FBXW7_ENST00000603548.1_Missense_Mutation_p.T536R|FBXW7_ENST00000263981.5_Missense_Mutation_p.T456R|FBXW7_ENST00000393956.3_Missense_Mutation_p.T360R|FBXW7_ENST00000296555.5_Missense_Mutation_p.T418R|FBXW7_ENST00000603841.1_Missense_Mutation_p.T536R	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase	536					cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|lipid homeostasis (GO:0055088)|lung development (GO:0030324)|negative regulation of DNA endoreduplication (GO:0032876)|negative regulation of hepatocyte proliferation (GO:2000346)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of SREBP signaling pathway (GO:2000639)|negative regulation of triglyceride biosynthetic process (GO:0010868)|Notch signaling pathway (GO:0007219)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway (GO:1903378)|positive regulation of proteasomal protein catabolic process (GO:1901800)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|regulation of cell cycle G1/S phase transition (GO:1902806)|regulation of lipid storage (GO:0010883)|regulation of protein localization (GO:0032880)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|sister chromatid cohesion (GO:0007062)|vasculature development (GO:0001944)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Parkin-FBXW7-Cul1 ubiquitin ligase complex (GO:1990452)|protein complex (GO:0043234)|SCF ubiquitin ligase complex (GO:0019005)	cyclin binding (GO:0030332)|identical protein binding (GO:0042802)|protein binding, bridging (GO:0030674)|sequence-specific DNA binding transcription factor activity (GO:0003700)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activator activity (GO:0097027)	p.?(1)		NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				CCCCTGCAACGTGTGTAGACA	0.423			"""Mis, N, D, F"""		"""colorectal, endometrial, T-ALL"""																																			Rec	yes		4	4q31.3	55294	"""F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)"""		"""E, L"""	1	Unknown(1)	haematopoietic_and_lymphoid_tissue(1)											183.0	178.0	180.0					4																	153247195		2203	4300	6503	SO:0001583	missense	0			AF411971	CCDS3777.1, CCDS3778.1, CCDS34078.1, CCDS64082.1	4q31.23	2013-01-09	2012-02-23					"""F-boxes / WD-40 domains"", ""WD repeat domain containing"""	16712	protein-coding gene	gene with protein product	"""archipelago homolog (Drosophila)"""	606278	"""F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)"", ""F-box and WD repeat domain containing 7"""			10531037, 11425854	Standard	NM_018315		Approved	AGO, FLJ11071, SEL-10, SEL10, FBW7, FBX30, CDC4, FBXW6	uc003ims.3	Q969H0		ENST00000281708.4:c.1607C>G	4.37:g.153247195G>C	ENSP00000281708:p.Thr536Arg		B7ZLP9|Q68DR0|Q96A16|Q96LE0|Q96RI2|Q9NUX6	Missense_Mutation	SNP	pfam_WD40_repeat,pfam_F-box_dom,superfamily_WD40_repeat_dom,superfamily_F-box_dom,smart_F-box_dom,smart_WD40_repeat,pfscan_F-box_dom,pfscan_WD40_repeat,pfscan_WD40_repeat_dom,prints_G-protein_beta_WD-40_rep	p.T536R	ENST00000281708.4	37	c.1607	CCDS3777.1	4	.	.	.	.	.	.	.	.	.	.	G	21.6	4.180385	0.78677	.	.	ENSG00000109670	ENST00000281708;ENST00000296555;ENST00000263981;ENST00000393956	T;T;T;T	0.62639	0.01;0.01;0.01;0.01	5.72	5.72	0.89469	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	0.75997	0.3926	L	0.46819	1.47	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;0.999;0.999	T	0.75326	-0.3357	10	0.59425	D	0.04	-9.7839	20.2406	0.98372	0.0:0.0:1.0:0.0	.	360;536;418;456	B7Z2C8;Q969H0;Q969H0-4;Q969H0-2	.;FBXW7_HUMAN;.;.	R	536;418;456;360	ENSP00000281708:T536R;ENSP00000296555:T418R;ENSP00000263981:T456R;ENSP00000377528:T360R	ENSP00000263981:T456R	T	-	2	0	FBXW7	153466645	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.813000	0.99286	2.857000	0.98124	0.650000	0.86243	ACG	FBXW7	-	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	ENSG00000109670		0.423	FBXW7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FBXW7	HGNC	protein_coding	OTTHUMT00000469956.1		0.00	71	0	G			153247195	-1			no_errors	ENST00000281708	ensembl	human	known	74_37	missense	43.59	22	17	SNP	1.000	C
FCGBP	8857	genome.wustl.edu	37	19	40364190	40364191	+	Frame_Shift_Del	DEL	CA	CA	-			TCGA-R6-A6L4-01A-11D-A31U-09	TCGA-R6-A6L4-10A-01D-A31U-09	CA	CA					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	73e30098-463c-4d83-b6f7-dcc43fad6592	3fc2bd45-8cf9-420d-b900-a0fee703731d	g.chr19:40364190_40364191delCA	ENST00000221347.6	-	31	14458_14459	c.14451_14452delTG	c.(14449-14454)tgtgagfs	p.CE4817fs		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	4817						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)			GGCCCACACTCACAGCGCCGCT	0.663																																																	0																																										SO:0001589	frameshift_variant	0			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.14451_14452delTG	19.37:g.40364192_40364193delCA	ENSP00000221347:p.Cys4817fs		O95784	Frame_Shift_Del	DEL	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.C4817fs	ENST00000221347.6	37	c.14452_14451	CCDS12546.1	19																																																																																			FCGBP	-	smart_VWC_out	ENSG00000090920		0.663	FCGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FCGBP	HGNC	protein_coding	OTTHUMT00000462507.1		0.00	66	0	CA	NM_003890		40364191	-1			no_errors	ENST00000221347	ensembl	human	known	74_37	frame_shift_del	20.45	35	9	DEL	0.997:0.999	0
FCGBP	8857	genome.wustl.edu	37	19	40421095	40421095	+	Silent	SNP	C	C	T			TCGA-R6-A6L4-01A-11D-A31U-09	TCGA-R6-A6L4-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	73e30098-463c-4d83-b6f7-dcc43fad6592	3fc2bd45-8cf9-420d-b900-a0fee703731d	g.chr19:40421095C>T	ENST00000221347.6	-	5	2833	c.2826G>A	c.(2824-2826)gtG>gtA	p.V942V		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	942	VWFD 2. {ECO:0000255|PROSITE- ProRule:PRU00580}.					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)			CGCTCACCAGCACTTGCCCGG	0.682																																																	0													19.0	22.0	21.0					19																	40421095		2188	4258	6446	SO:0001819	synonymous_variant	0			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.2826G>A	19.37:g.40421095C>T			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.V942	ENST00000221347.6	37	c.2826	CCDS12546.1	19																																																																																			FCGBP	-	pfam_VWF_type-D,smart_VWF_type-D	ENSG00000090920		0.682	FCGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FCGBP	HGNC	protein_coding	OTTHUMT00000462507.1		0.00	49	0	C	NM_003890		40421095	-1			no_errors	ENST00000221347	ensembl	human	known	74_37	silent	50.00	17	17	SNP	0.245	T
FCRL1	115350	genome.wustl.edu	37	1	157771260	157771260	+	Silent	SNP	T	T	G			TCGA-R6-A6L4-01A-11D-A31U-09	TCGA-R6-A6L4-10A-01D-A31U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	73e30098-463c-4d83-b6f7-dcc43fad6592	3fc2bd45-8cf9-420d-b900-a0fee703731d	g.chr1:157771260T>G	ENST00000368176.3	-	6	1061	c.994A>C	c.(994-996)Aga>Cga	p.R332R	FCRL1_ENST00000489998.1_Intron|FCRL1_ENST00000491942.1_Silent_p.R332R|FCRL1_ENST00000358292.3_Intron	NM_001159398.1|NM_052938.4	NP_001152870.1|NP_443170.1	Q96LA6	FCRL1_HUMAN	Fc receptor-like 1	332						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)			CCTATTTTTCTTTTGAGGCCG	0.428																																					GBM(54;482 1003 11223 30131 35730)												0													71.0	71.0	71.0					1																	157771260		2203	4300	6503	SO:0001819	synonymous_variant	0			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.994A>C	1.37:g.157771260T>G			B2RE05|Q8N759|Q8NDI0|Q96PJ6	Silent	SNP	pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	p.R332	ENST00000368176.3	37	c.994	CCDS1170.1	1																																																																																			FCRL1	-	NULL	ENSG00000163534		0.428	FCRL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FCRL1	HGNC	protein_coding	OTTHUMT00000051401.1		0.00	46	0	T	NM_052938		157771260	-1			no_errors	ENST00000368176	ensembl	human	known	74_37	silent	37.50	30	18	SNP	0.970	G
FHOD3	80206	genome.wustl.edu	37	18	34192047	34192047	+	Missense_Mutation	SNP	A	A	C			TCGA-R6-A6L4-01A-11D-A31U-09	TCGA-R6-A6L4-10A-01D-A31U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	73e30098-463c-4d83-b6f7-dcc43fad6592	3fc2bd45-8cf9-420d-b900-a0fee703731d	g.chr18:34192047A>C	ENST00000359247.4	+	9	946	c.946A>C	c.(946-948)Aac>Cac	p.N316H	FHOD3_ENST00000257209.4_Missense_Mutation_p.N316H|FHOD3_ENST00000591635.1_5'UTR|FHOD3_ENST00000590592.1_Missense_Mutation_p.N316H|FHOD3_ENST00000445677.1_Missense_Mutation_p.N316H	NM_001281739.1	NP_001268668.1	Q2V2M9	FHOD3_HUMAN	formin homology 2 domain containing 3	316	GBD/FH3. {ECO:0000255|PROSITE- ProRule:PRU00579}.				actin filament network formation (GO:0051639)|cardiac myofibril assembly (GO:0055003)|negative regulation of actin filament polymerization (GO:0030837)|sarcomere organization (GO:0045214)	striated muscle thin filament (GO:0005865)				NS(1)|breast(5)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(25)|liver(2)|lung(29)|ovary(3)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)	90		all_epithelial(2;0.0181)|Colorectal(2;0.0195)				GGAGCAACTCAACATTTATGA	0.512																																																	0													215.0	173.0	187.0					18																	34192047		2203	4300	6503	SO:0001583	missense	0			AK091899	CCDS32816.1, CCDS62418.1, CCDS62419.1	18q12	2007-08-02				ENSG00000134775			26178	protein-coding gene	gene with protein product		609691				11214970	Standard	NM_025135		Approved	FHOS2, KIAA1695, FLJ22297, FLJ22717	uc021uiv.1	Q2V2M9		ENST00000359247.4:c.946A>C	18.37:g.34192047A>C	ENSP00000352186:p.Asn316His		A8MQT4|E5F5Q0|Q642I2|Q6ZRQ7|Q86TF9|Q8N3A5|Q9C0G8|Q9H604|Q9H6G7	Missense_Mutation	SNP	pfam_FH2_Formin,superfamily_ARM-type_fold,smart_FH2_Formin	p.N316H	ENST00000359247.4	37	c.946		18	.	.	.	.	.	.	.	.	.	.	A	17.92	3.507902	0.64410	.	.	ENSG00000134775	ENST00000257209;ENST00000359247;ENST00000445677	T;T;T	0.76578	-1.03;-1.03;-1.03	5.58	5.58	0.84498	GTPase-binding/formin homology 3 (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.86247	0.5887	M	0.66939	2.045	0.39699	D	0.971152	D;D;D;D	0.89917	0.989;0.991;1.0;0.979	D;D;D;D	0.77004	0.986;0.989;0.98;0.969	D	0.86907	0.2058	10	0.45353	T	0.12	.	14.884	0.70555	1.0:0.0:0.0:0.0	.	316;316;316;316	Q2V2M9-2;Q2V2M9;Q2V2M9-3;E5F5Q0	.;FHOD3_HUMAN;.;.	H	316	ENSP00000257209:N316H;ENSP00000352186:N316H;ENSP00000411430:N316H	ENSP00000257209:N316H	N	+	1	0	FHOD3	32446045	1.000000	0.71417	0.998000	0.56505	0.935000	0.57460	7.526000	0.81920	2.250000	0.74265	0.454000	0.30748	AAC	FHOD3	-	superfamily_ARM-type_fold	ENSG00000134775		0.512	FHOD3-001	PUTATIVE	basic	protein_coding	FHOD3	HGNC	protein_coding	OTTHUMT00000460884.1		0.00	59	0	A	XM_371114		34192047	+1			no_errors	ENST00000257209	ensembl	human	known	74_37	missense	38.24	21	13	SNP	1.000	C
FLJ36000	284124	genome.wustl.edu	37	17	21911820	21911820	+	lincRNA	SNP	C	C	A			TCGA-R6-A6L4-01A-11D-A31U-09	TCGA-R6-A6L4-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	73e30098-463c-4d83-b6f7-dcc43fad6592	3fc2bd45-8cf9-420d-b900-a0fee703731d	g.chr17:21911820C>A	ENST00000581223.2	+	0	2545					NR_027084.1																						ACCAGTTTGGCACCCCTCCCC	0.537																																																	0																																												0																															17.37:g.21911820C>A				RNA	SNP	-	NULL	ENST00000581223.2	37	NULL		17																																																																																			RP11-744K17.9	-	-	ENSG00000266795		0.537	RP11-744K17.9-001	KNOWN	basic	lincRNA	FLJ36000	Clone_based_vega_gene	lincRNA	OTTHUMT00000451067.1		0.00	46	0	C			21911820	+1			no_errors	ENST00000581223	ensembl	human	known	74_37	rna	40.00	12	8	SNP	0.023	A
FLNC	2318	genome.wustl.edu	37	7	128492798	128492798	+	Missense_Mutation	SNP	G	G	A			TCGA-R6-A6L4-01A-11D-A31U-09	TCGA-R6-A6L4-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	73e30098-463c-4d83-b6f7-dcc43fad6592	3fc2bd45-8cf9-420d-b900-a0fee703731d	g.chr7:128492798G>A	ENST00000325888.8	+	36	6257	c.5996G>A	c.(5995-5997)cGg>cAg	p.R1999Q	RP11-309L24.2_ENST00000469965.1_RNA|FLNC_ENST00000346177.6_Missense_Mutation_p.R1966Q	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	1999					cell junction assembly (GO:0034329)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|cytoskeletal protein binding (GO:0008092)			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						CTGCCCAACCGGCACATTGGT	0.652																																																	0													42.0	47.0	45.0					7																	128492798		2013	4184	6197	SO:0001583	missense	0			AB208865	CCDS43644.1, CCDS47705.1	7q32-q35	2014-09-17	2009-07-23		ENSG00000128591	ENSG00000128591			3756	protein-coding gene	gene with protein product	"""actin binding protein 280"""	102565	"""filamin C, gamma (actin binding protein 280)"""	FLN2		7689010, 8088838	Standard	NM_001458		Approved	ABP-280, ABPL	uc003vnz.4	Q14315	OTTHUMG00000023627	ENST00000325888.8:c.5996G>A	7.37:g.128492798G>A	ENSP00000327145:p.Arg1999Gln		B2ZZ88|O95303|Q07985|Q9NS12|Q9NYE5|Q9UMR8|Q9Y503	Missense_Mutation	SNP	pfam_Filamin/ABP280_repeat-like,pfam_CH-domain,superfamily_CH-domain,superfamily_Ig_E-set,smart_CH-domain,smart_Filamin,pfscan_CH-domain,pfscan_Filamin/ABP280_repeat-like	p.R1999Q	ENST00000325888.8	37	c.5996	CCDS43644.1	7	.	.	.	.	.	.	.	.	.	.	G	21.6	4.173938	0.78452	.	.	ENSG00000128591	ENST00000325888;ENST00000346177	T;T	0.41758	0.99;0.99	5.97	5.97	0.96955	Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.129340	0.50627	D	0.000112	T	0.51500	0.1678	L	0.44542	1.39	0.38909	D	0.957482	D;P	0.71674	0.998;0.818	P;B	0.58172	0.834;0.193	T	0.53143	-0.8480	10	0.62326	D	0.03	.	14.023	0.64568	0.0774:0.0:0.9226:0.0	.	1966;1999	Q14315-2;Q14315	.;FLNC_HUMAN	Q	1999;1966	ENSP00000327145:R1999Q;ENSP00000344002:R1966Q	ENSP00000327145:R1999Q	R	+	2	0	FLNC	128280034	0.998000	0.40836	1.000000	0.80357	0.950000	0.60333	3.390000	0.52523	2.837000	0.97791	0.655000	0.94253	CGG	FLNC	-	pfam_Filamin/ABP280_repeat-like,superfamily_Ig_E-set,smart_Filamin,pfscan_Filamin/ABP280_repeat-like	ENSG00000128591		0.652	FLNC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	FLNC	HGNC	protein_coding	OTTHUMT00000059948.3		0.00	66	0	G			128492798	+1			no_errors	ENST00000325888	ensembl	human	known	74_37	missense	5.41	35	2	SNP	1.000	A
FLRT2	23768	genome.wustl.edu	37	14	86089197	86089197	+	Missense_Mutation	SNP	G	G	A			TCGA-R6-A6L4-01A-11D-A31U-09	TCGA-R6-A6L4-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	73e30098-463c-4d83-b6f7-dcc43fad6592	3fc2bd45-8cf9-420d-b900-a0fee703731d	g.chr14:86089197G>A	ENST00000330753.4	+	2	2106	c.1339G>A	c.(1339-1341)Gtg>Atg	p.V447M	FLRT2_ENST00000554746.1_Missense_Mutation_p.V447M	NM_013231.4	NP_037363.1	O43155	FLRT2_HUMAN	fibronectin leucine rich transmembrane protein 2	447	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|intracellular signal transduction (GO:0035556)|regulation of neuron migration (GO:2001222)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|proteinaceous extracellular matrix (GO:0005578)	chemorepellent activity (GO:0045499)|protein binding, bridging (GO:0030674)|receptor signaling protein activity (GO:0005057)	p.V447M(1)		NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(21)|lung(27)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	73				BRCA - Breast invasive adenocarcinoma(234;0.0319)		TCTCTTCACCGTGATGGCATA	0.493																																																	1	Substitution - Missense(1)	large_intestine(1)											82.0	75.0	78.0					14																	86089197		2203	4300	6503	SO:0001583	missense	0			AF169676	CCDS9877.1	14q24-q32	2013-02-11				ENSG00000185070		"""Fibronectin type III domain containing"""	3761	protein-coding gene	gene with protein product		604807				10644439, 16872596	Standard	XM_005267490		Approved		uc001xvr.3	O43155		ENST00000330753.4:c.1339G>A	14.37:g.86089197G>A	ENSP00000332879:p.Val447Met		A0AV84|B7ZLP3	Missense_Mutation	SNP	pfam_Leu-rich_rpt,pfam_Fibronectin_type3,pfam_LRR-contain_N,superfamily_Fibronectin_type3,smart_LRR-contain_N,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,pfscan_Fibronectin_type3	p.V447M	ENST00000330753.4	37	c.1339	CCDS9877.1	14	.	.	.	.	.	.	.	.	.	.	G	12.73	2.025691	0.35701	.	.	ENSG00000185070	ENST00000330753;ENST00000554746;ENST00000535800	T;T	0.59224	0.28;0.28	6.17	6.17	0.99709	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.66015	0.2747	N	0.21194	0.64	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.59263	-0.7487	10	0.24483	T	0.36	-19.394	20.8794	0.99867	0.0:0.0:1.0:0.0	.	447	O43155	FLRT2_HUMAN	M	447;447;100	ENSP00000332879:V447M;ENSP00000451050:V447M	ENSP00000332879:V447M	V	+	1	0	FLRT2	85158950	1.000000	0.71417	0.992000	0.48379	0.985000	0.73830	8.002000	0.88514	2.941000	0.99782	0.655000	0.94253	GTG	FLRT2	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000185070		0.493	FLRT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FLRT2	HGNC	protein_coding	OTTHUMT00000413193.1		0.00	36	0	G			86089197	+1			no_errors	ENST00000330753	ensembl	human	known	74_37	missense	50.00	9	9	SNP	1.000	A
GCNT1	2650	genome.wustl.edu	37	9	79118499	79118499	+	Missense_Mutation	SNP	A	A	C			TCGA-R6-A6L4-01A-11D-A31U-09	TCGA-R6-A6L4-10A-01D-A31U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	73e30098-463c-4d83-b6f7-dcc43fad6592	3fc2bd45-8cf9-420d-b900-a0fee703731d	g.chr9:79118499A>C	ENST00000376730.4	+	4	1685	c.1202A>C	c.(1201-1203)aAg>aCg	p.K401T	GCNT1_ENST00000442371.1_Missense_Mutation_p.K401T|GCNT1_ENST00000536223.1_Missense_Mutation_p.K401T|GCNT1_ENST00000444201.2_Missense_Mutation_p.K401T	NM_001097636.1|NM_001490.4	NP_001091105.1|NP_001481.2	Q02742	GCNT1_HUMAN	glucosaminyl (N-acetyl) transferase 1, core 2	401	Catalytic. {ECO:0000250}.				cell adhesion molecule production (GO:0060352)|cellular protein metabolic process (GO:0044267)|glycoprotein biosynthetic process (GO:0009101)|kidney morphogenesis (GO:0060993)|leukocyte tethering or rolling (GO:0050901)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to insulin (GO:0032868)|tissue morphogenesis (GO:0048729)	extracellular space (GO:0005615)|Golgi cisterna (GO:0031985)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|trans-Golgi network (GO:0005802)	beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N-acetylglucosaminyltransferase activity (GO:0003829)	p.K401T(1)		breast(2)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(6)|lung(11)|prostate(2)|urinary_tract(1)	30						TTTGCCAATAAGTTTGACGTG	0.488																																																	1	Substitution - Missense(1)	urinary_tract(1)											116.0	93.0	101.0					9																	79118499		2203	4300	6503	SO:0001583	missense	0			L41415	CCDS6653.1	9q13	2013-02-25	2010-03-16		ENSG00000187210	ENSG00000187210	2.4.1.102	"""Glucosaminyl (N-acetyl) transferase and xylosyltransferase family"""	4203	protein-coding gene	gene with protein product	"""core 2 beta1,6 N-acetylglucosaminyltransferase-I"", ""beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,6-N--acetylglucosaminyltransferase"""	600391	"""glucosaminyl (N-acetyl) transferase 1, core 2 (beta-1,6-N-acetylglucosaminyltransferase)"""	NACGT2		8449405, 9915862	Standard	NM_001490		Approved	C2GNT, NAGCT2	uc004akf.4	Q02742	OTTHUMG00000020044	ENST00000376730.4:c.1202A>C	9.37:g.79118499A>C	ENSP00000365920:p.Lys401Thr		Q6DJZ4	Missense_Mutation	SNP	pfam_Glyco_trans_14	p.K401T	ENST00000376730.4	37	c.1202	CCDS6653.1	9	.	.	.	.	.	.	.	.	.	.	a	24.1	4.488718	0.84962	.	.	ENSG00000187210	ENST00000536223;ENST00000442371;ENST00000444201;ENST00000376730	T;T;T;T	0.36340	1.26;1.26;1.26;1.26	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	T	0.63827	0.2544	M	0.80982	2.52	0.58432	D	0.999993	D	0.89917	1.0	D	0.97110	1.0	T	0.65721	-0.6099	9	.	.	.	.	16.8222	0.85835	1.0:0.0:0.0:0.0	.	401	Q02742	GCNT1_HUMAN	T	401	ENSP00000440883:K401T;ENSP00000415454:K401T;ENSP00000390703:K401T;ENSP00000365920:K401T	.	K	+	2	0	GCNT1	78308319	1.000000	0.71417	1.000000	0.80357	0.944000	0.59088	9.339000	0.96797	2.371000	0.80710	0.533000	0.62120	AAG	GCNT1	-	NULL	ENSG00000187210		0.488	GCNT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GCNT1	HGNC	protein_coding	OTTHUMT00000052725.1		0.00	16	0	A	NM_001097634		79118499	+1			no_errors	ENST00000376730	ensembl	human	known	74_37	missense	39.13	13	9	SNP	1.000	C
GK2	2712	genome.wustl.edu	37	4	80329320	80329320	+	Missense_Mutation	SNP	A	A	G			TCGA-R6-A6L4-01A-11D-A31U-09	TCGA-R6-A6L4-10A-01D-A31U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	73e30098-463c-4d83-b6f7-dcc43fad6592	3fc2bd45-8cf9-420d-b900-a0fee703731d	g.chr4:80329320A>G	ENST00000358842.3	-	1	52	c.35T>C	c.(34-36)tTg>tCg	p.L12S		NM_033214.2	NP_149991.2	Q01415	GALK2_HUMAN	glycerol kinase 2	0					carbohydrate metabolic process (GO:0005975)|galactose metabolic process (GO:0006012)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|galactokinase activity (GO:0004335)|N-acetylgalactosamine kinase activity (GO:0033858)			autonomic_ganglia(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(13)|ovary(2)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)	39						CGCTCCCACCAACGGCCCCAC	0.567																																																	0													35.0	35.0	35.0					4																	80329320		2203	4300	6503	SO:0001583	missense	0			BC029820	CCDS3585.1	4q13	2008-02-05	2002-10-03	2002-10-04	ENSG00000196475	ENSG00000196475		"""Glycerol kinases"""	4291	protein-coding gene	gene with protein product		600148	"""glycerol kinase pseudogene 2"""	GKP2		7987308	Standard	NM_033214		Approved	GKTA	uc003hlu.3	Q14410	OTTHUMG00000130199	ENST00000358842.3:c.35T>C	4.37:g.80329320A>G	ENSP00000351706:p.Leu12Ser		Q7Z4Q4	Missense_Mutation	SNP	pfam_Carb_kinase_FGGY_N,pfam_Carb_kinase_FGGY_C,tigrfam_Glycerol_kin	p.L12S	ENST00000358842.3	37	c.35	CCDS3585.1	4	.	.	.	.	.	.	.	.	.	.	A	13.72	2.320546	0.41096	.	.	ENSG00000196475	ENST00000358842	T	0.17691	2.26	3.74	3.74	0.42951	.	0.083603	0.49305	D	0.000141	T	0.37812	0.1017	M	0.77406	2.37	0.50467	D	0.999873	D	0.59357	0.985	D	0.63113	0.911	T	0.29912	-0.9996	10	0.87932	D	0	-14.1563	11.0599	0.47942	1.0:0.0:0.0:0.0	.	12	Q14410	GLPK2_HUMAN	S	12	ENSP00000351706:L12S	ENSP00000351706:L12S	L	-	2	0	GK2	80548344	1.000000	0.71417	0.994000	0.49952	0.644000	0.38419	4.860000	0.62961	1.936000	0.56123	0.377000	0.23210	TTG	GK2	-	tigrfam_Glycerol_kin	ENSG00000196475		0.567	GK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GK2	HGNC	protein_coding	OTTHUMT00000252517.2		0.00	49	0	A	NM_033214		80329320	-1			no_errors	ENST00000358842	ensembl	human	known	74_37	missense	75.00	6	18	SNP	1.000	G
GNAS	2778	genome.wustl.edu	37	20	57430677	57430677	+	Missense_Mutation	SNP	A	A	C			TCGA-R6-A6L4-01A-11D-A31U-09	TCGA-R6-A6L4-10A-01D-A31U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	73e30098-463c-4d83-b6f7-dcc43fad6592	3fc2bd45-8cf9-420d-b900-a0fee703731d	g.chr20:57430677A>C	ENST00000371099.2	+	2	2140	c.2137A>C	c.(2137-2139)Agc>Cgc	p.S713R	GNAS_ENST00000313949.7_Intron|GNAS_ENST00000464624.2_Intron|GNAS_ENST00000371102.4_Intron|GNAS_ENST00000371075.3_Intron|GNAS_ENST00000371100.4_Intron|GNAS_ENST00000371098.2_Intron			P63092	GNAS2_HUMAN	GNAS complex locus	0					activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-activating adrenergic receptor signaling pathway (GO:0071880)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|blood coagulation (GO:0007596)|bone development (GO:0060348)|cAMP biosynthetic process (GO:0006171)|cellular response to catecholamine stimulus (GO:0071870)|cellular response to glucagon stimulus (GO:0071377)|cellular response to prostaglandin E stimulus (GO:0071380)|cognition (GO:0050890)|developmental growth (GO:0048589)|energy reserve metabolic process (GO:0006112)|hair follicle placode formation (GO:0060789)|intracellular transport (GO:0046907)|platelet aggregation (GO:0070527)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of Ras GTPase activity (GO:0032320)|regulation of insulin secretion (GO:0050796)|sensory perception of smell (GO:0007608)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|intrinsic component of membrane (GO:0031224)|membrane (GO:0016020)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)	adenylate cyclase activity (GO:0004016)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)			adrenal_gland(12)|autonomic_ganglia(1)|biliary_tract(5)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(37)|liver(9)|lung(9)|ovary(16)|pancreas(56)|parathyroid(5)|pituitary(228)|prostate(2)|small_intestine(1)|stomach(1)|testis(2)|thyroid(35)|upper_aerodigestive_tract(3)|urinary_tract(1)	441	all_lung(29;0.0104)		BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)			AGCAACCGTAAGCTGGACAGG	0.682			Mis		pituitary adenoma		"""McCune-Albright syndrome; pseudohypoparathyroidism, type IA"""			TSP Lung(22;0.16)																											Colon(117;935 1597 6045 8307 46442)			Dom	yes		20	20q13.2	2778	"""guanine nucleotide binding protein (G protein), alpha stimulating activity polypeptide 1"""	yes	E	0																																										SO:0001583	missense	0			M21142	CCDS13471.1, CCDS13472.1, CCDS42892.1, CCDS46622.1, CCDS46623.1, CCDS46624.1	20q13.2-q13.3	2010-03-01	2001-12-19	2001-12-20	ENSG00000087460	ENSG00000087460			4392	protein-coding gene	gene with protein product	"""secretogranin VI"""	139320	"""guanine nucleotide binding protein (G protein), alpha stimulating activity polypeptide 1"""	GNAS1			Standard	NM_000516		Approved	NESP55, NESP, GNASXL, GPSA, SCG6	uc002xzw.3	O95467	OTTHUMG00000033069	ENST00000371099.2:c.2137A>C	20.37:g.57430677A>C	ENSP00000360140:p.Ser713Arg		A6NI00|E1P5G5|P04895|Q12927|Q14433|Q32P26|Q5JWD2|Q5JWD4|Q5JWD5|Q6NR75|Q6NXS0|Q8TBC0|Q96H70	Missense_Mutation	SNP	NULL	p.S713R	ENST00000371099.2	37	c.2137		20	.	.	.	.	.	.	.	.	.	.	A	14.18	2.458260	0.43634	.	.	ENSG00000087460	ENST00000371099	.	.	.	3.92	0.374	0.16183	.	.	.	.	.	T	0.59418	0.2192	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.57602	-0.7783	5	0.87932	D	0	.	5.865	0.18771	0.6378:0.0:0.3622:0.0	.	.	.	.	R	713	.	ENSP00000360140:S713R	S	+	1	0	GNAS	56864072	0.986000	0.35501	0.989000	0.46669	0.961000	0.63080	0.531000	0.23052	-0.054000	0.13266	0.460000	0.39030	AGC	GNAS	-	NULL	ENSG00000087460		0.682	GNAS-058	PUTATIVE	basic	protein_coding	GNAS	HGNC	protein_coding	OTTHUMT00000267995.2		0.00	47	0	A	NM_000516		57430677	+1			no_errors	ENST00000371099	ensembl	human	putative	74_37	missense	35.00	26	14	SNP	0.935	C
GPRIN1	114787	genome.wustl.edu	37	5	176026122	176026134	+	Frame_Shift_Del	DEL	CAAAGACCCAGGA	CAAAGACCCAGGA	-	rs3797464|rs200519605|rs386695335|rs550332435|rs142779818|rs371149640|rs199714570|rs373697082	byFrequency	TCGA-R6-A6L4-01A-11D-A31U-09	TCGA-R6-A6L4-10A-01D-A31U-09	CAAAGACCCAGGA	CAAAGACCCAGGA					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	73e30098-463c-4d83-b6f7-dcc43fad6592	3fc2bd45-8cf9-420d-b900-a0fee703731d	g.chr5:176026122_176026134delCAAAGACCCAGGA	ENST00000303991.4	-	2	879_891	c.702_714delTCCTGGGTCTTTG	c.(700-714)gatcctgggtctttgfs	p.DPGSL234fs		NM_052899.2	NP_443131.2	Q7Z2K8	GRIN1_HUMAN	G protein regulated inducer of neurite outgrowth 1	234				Missing (in Ref. 4; CAD38868). {ECO:0000305}.	neuron projection development (GO:0031175)	cell projection (GO:0042995)|plasma membrane (GO:0005886)		p.L238L(1)		NS(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_cancers(89;0.00263)|Renal(175;0.000269)|Lung NSC(126;0.00902)|all_lung(126;0.0142)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CCACCTTTCTCAAAGACCCAGGATCCTCCTTCC	0.488																																																	1	Substitution - coding silent(1)	lung(1)								721,3495		76,569,1463						-0.3	0.0		dbSNP_107	106	1092,7070		103,886,3092	no	frameshift	GPRIN1	NM_052899.2		179,1455,4555	A1A1,A1R,RR		13.3791,17.1015,14.647				1813,10565				SO:0001589	frameshift_variant	0			AB067480	CCDS4405.1	5q35.2	2008-02-05			ENSG00000169258	ENSG00000169258			24835	protein-coding gene	gene with protein product		611239				11572484	Standard	NM_052899		Approved	GRIN1, KIAA1893	uc003meo.1	Q7Z2K8	OTTHUMG00000130659	ENST00000303991.4:c.702_714delTCCTGGGTCTTTG	5.37:g.176026122_176026134delCAAAGACCCAGGA	ENSP00000305839:p.Asp234fs		C9JM70|Q8ND74|Q96PZ4	Frame_Shift_Del	DEL	NULL	p.D234fs	ENST00000303991.4	37	c.714_702	CCDS4405.1	5																																																																																			GPRIN1	-	NULL	ENSG00000169258		0.488	GPRIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPRIN1	HGNC	protein_coding	OTTHUMT00000253149.1		0.00	23	0	CAAAGACCCAGGA	NM_052899		176026134	-1			no_errors	ENST00000303991	ensembl	human	known	74_37	frame_shift_del	31.82	15	7	DEL	0.000:0.000:0.000:0.001:0.004:0.001:0.000:0.000:0.101:0.106:0.114:0.091:0.008	0
GPRIN1	114787	genome.wustl.edu	37	5	176026136	176026146	+	Frame_Shift_Del	DEL	CCTCCTTCCTC	CCTCCTTCCTC	-	rs79403503|rs386695335|rs550332435|rs77245696|rs142779818|rs371149640|rs201635586	byFrequency	TCGA-R6-A6L4-01A-11D-A31U-09	TCGA-R6-A6L4-10A-01D-A31U-09	CCTCCTTCCTC	CCTCCTTCCTC					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	73e30098-463c-4d83-b6f7-dcc43fad6592	3fc2bd45-8cf9-420d-b900-a0fee703731d	g.chr5:176026136_176026146delCCTCCTTCCTC	ENST00000303991.4	-	2	867_877	c.690_700delGAGGAAGGAGG	c.(688-702)ccgaggaaggaggatfs	p.RKED231fs		NM_052899.2	NP_443131.2	Q7Z2K8	GRIN1_HUMAN	G protein regulated inducer of neurite outgrowth 1	231				Missing (in Ref. 4; CAD38868). {ECO:0000305}.	neuron projection development (GO:0031175)	cell projection (GO:0042995)|plasma membrane (GO:0005886)				NS(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(3)|liver(1)|lung(15)|ovary(2)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35	all_cancers(89;0.00263)|Renal(175;0.000269)|Lung NSC(126;0.00902)|all_lung(126;0.0142)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;3.85e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GACCCAGGATCCTCCTTCCTCGGTGACACTG	0.498																																																	0										563,3699		9,545,1577						-2.4	0.0		dbSNP_134	89	851,7393		18,815,3289	no	frameshift	GPRIN1	NM_052899.2		27,1360,4866	A1A1,A1R,RR		10.3227,13.2098,11.3066				1414,11092				SO:0001589	frameshift_variant	0			AB067480	CCDS4405.1	5q35.2	2008-02-05			ENSG00000169258	ENSG00000169258			24835	protein-coding gene	gene with protein product		611239				11572484	Standard	NM_052899		Approved	GRIN1, KIAA1893	uc003meo.1	Q7Z2K8	OTTHUMG00000130659	ENST00000303991.4:c.690_700delGAGGAAGGAGG	5.37:g.176026136_176026146delCCTCCTTCCTC	ENSP00000305839:p.Arg231fs		C9JM70|Q8ND74|Q96PZ4	Frame_Shift_Del	DEL	NULL	p.R231fs	ENST00000303991.4	37	c.700_690	CCDS4405.1	5																																																																																			GPRIN1	-	NULL	ENSG00000169258		0.498	GPRIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPRIN1	HGNC	protein_coding	OTTHUMT00000253149.1		0.00	23	0	CCTCCTTCCTC	NM_052899		176026146	-1			no_errors	ENST00000303991	ensembl	human	known	74_37	frame_shift_del	35.00	13	7	DEL	0.001:0.001:0.018:0.050:0.065:0.536:0.053:0.031:0.027:0.000:0.000	0
GRIK2	2898	genome.wustl.edu	37	6	102513685	102513685	+	Intron	SNP	A	A	C			TCGA-R6-A6L4-01A-11D-A31U-09	TCGA-R6-A6L4-10A-01D-A31U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	73e30098-463c-4d83-b6f7-dcc43fad6592	3fc2bd45-8cf9-420d-b900-a0fee703731d	g.chr6:102513685A>C	ENST00000421544.1	+	16	3052				GRIK2_ENST00000369138.1_Missense_Mutation_p.K859T|GRIK2_ENST00000413795.1_Intron|GRIK2_ENST00000369134.4_Intron|GRIK2_ENST00000369137.3_Intron	NM_021956.4	NP_068775.1	Q13002	GRIK2_HUMAN	glutamate receptor, ionotropic, kainate 2						behavioral fear response (GO:0001662)|cellular calcium ion homeostasis (GO:0006874)|glutamate receptor signaling pathway (GO:0007215)|intracellular protein transport (GO:0006886)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|neuronal action potential (GO:0019228)|positive regulation of synaptic transmission (GO:0050806)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of inhibitory postsynaptic membrane potential (GO:0060080)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of short-term neuronal synaptic plasticity (GO:0048172)|regulation of synaptic transmission (GO:0050804)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|kainate selective glutamate receptor complex (GO:0032983)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	extracellular-glutamate-gated ion channel activity (GO:0005234)|kainate selective glutamate receptor activity (GO:0015277)			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83		all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14)		all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206)	Amobarbital(DB01351)|Aprobarbital(DB01352)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Methylphenobarbital(DB00849)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Primidone(DB00794)|Secobarbital(DB00418)|Talbutal(DB00306)|Thiopental(DB00599)	GCCAAGACTAAGTTACCTCAA	0.343																																																	0													296.0	242.0	258.0					6																	102513685		692	1589	2281	SO:0001627	intron_variant	0				CCDS5048.1, CCDS5049.1, CCDS55045.1	6q16.3	2012-08-29			ENSG00000164418	ENSG00000164418		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4580	protein-coding gene	gene with protein product		138244		GLUR6		8034316	Standard	NM_021956		Approved	GluK2, MRT6	uc003pqp.4	Q13002	OTTHUMG00000016328	ENST00000421544.1:c.2563-2537A>C	6.37:g.102513685A>C			A6NMY9|B5MCV0|D7RWZ3|D7RWZ4|D7RWZ5|D7RWZ6|D7RWZ7|Q8WWS1|Q96KS6|Q96KS7|Q96KS8	Missense_Mutation	SNP	pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_Glu_rcpt_Glu/Gly-bd,pfam_SBP_bac_3,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt	p.K859T	ENST00000421544.1	37	c.2576	CCDS5048.1	6	.	.	.	.	.	.	.	.	.	.	A	7.873	0.728616	0.15507	.	.	ENSG00000164418	ENST00000369138	T	0.13089	2.62	3.75	2.54	0.30619	.	.	.	.	.	T	0.02727	0.0082	N	0.19112	0.55	0.80722	D	1	B	0.26445	0.149	B	0.15052	0.012	T	0.31888	-0.9927	9	0.46703	T	0.11	.	6.1301	0.20201	0.7624:0.0:0.0:0.2376	.	859	Q13002-5	.	T	859	ENSP00000358134:K859T	ENSP00000358134:K859T	K	+	2	0	GRIK2	102620378	0.998000	0.40836	1.000000	0.80357	0.998000	0.95712	1.285000	0.33261	0.750000	0.32877	0.477000	0.44152	AAG	GRIK2	-	NULL	ENSG00000164418		0.343	GRIK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRIK2	HGNC	protein_coding	OTTHUMT00000043718.1		0.00	53	0	A			102513685	+1			no_errors	ENST00000369138	ensembl	human	known	74_37	missense	29.73	26	11	SNP	1.000	C
GRIN2A	2903	genome.wustl.edu	37	16	9923493	9923493	+	Silent	SNP	A	A	C			TCGA-R6-A6L4-01A-11D-A31U-09	TCGA-R6-A6L4-10A-01D-A31U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	73e30098-463c-4d83-b6f7-dcc43fad6592	3fc2bd45-8cf9-420d-b900-a0fee703731d	g.chr16:9923493A>C	ENST00000396573.2	-	10	2103	c.1794T>G	c.(1792-1794)tcT>tcG	p.S598S	GRIN2A_ENST00000330684.3_Silent_p.S598S|GRIN2A_ENST00000535259.1_Silent_p.S441S|GRIN2A_ENST00000404927.2_Silent_p.S598S|GRIN2A_ENST00000562109.1_Silent_p.S598S|GRIN2A_ENST00000396575.2_Silent_p.S598S	NM_000833.3	NP_000824.1	Q12879	NMDE1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2A	598			S -> F (found in a cutaneous malignant melanoma sample; somatic mutation). {ECO:0000269|PubMed:21499247}.		directional locomotion (GO:0033058)|dopamine metabolic process (GO:0042417)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|learning or memory (GO:0007611)|memory (GO:0007613)|negative regulation of protein catabolic process (GO:0042177)|neurogenesis (GO:0022008)|positive regulation of apoptotic process (GO:0043065)|protein localization (GO:0008104)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of sensory perception of pain (GO:0051930)|regulation of synaptic plasticity (GO:0048167)|response to amphetamine (GO:0001975)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to wounding (GO:0009611)|sensory perception of pain (GO:0019233)|serotonin metabolic process (GO:0042428)|sleep (GO:0030431)|startle response (GO:0001964)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)|visual learning (GO:0008542)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|synaptic vesicle (GO:0008021)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|zinc ion binding (GO:0008270)	p.S598S(1)		NS(7)|breast(5)|cervix(1)|endometrium(11)|kidney(6)|large_intestine(36)|lung(71)|ovary(4)|prostate(9)|skin(45)|upper_aerodigestive_tract(2)|urinary_tract(1)	198					Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Felbamate(DB00949)|Gabapentin(DB00996)|Glycine(DB00145)|Halothane(DB01159)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	CAATTGTAAAAGAAGGCCCAT	0.463																																																	1	Substitution - coding silent(1)	lung(1)											49.0	48.0	48.0					16																	9923493		2197	4300	6497	SO:0001819	synonymous_variant	0				CCDS10539.1, CCDS45407.1	16p13.2	2012-08-29			ENSG00000183454	ENSG00000183454		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4585	protein-coding gene	gene with protein product		138253		NMDAR2A		9480759	Standard	XM_005255267		Approved	GluN2A	uc002czo.4	Q12879	OTTHUMG00000129721	ENST00000396573.2:c.1794T>G	16.37:g.9923493A>C			O00669|Q17RZ6	Silent	SNP	pfam_NMDAR2_C,pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,pfam_ANF_lig-bd_rcpt,superfamily_Peripla_BP_I,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt	p.S598	ENST00000396573.2	37	c.1794	CCDS10539.1	16																																																																																			GRIN2A	-	pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,smart_Iontro_glu_rcpt,prints_NMDA_rcpt	ENSG00000183454		0.463	GRIN2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRIN2A	HGNC	protein_coding	OTTHUMT00000251930.3		0.00	54	0	A			9923493	-1			no_errors	ENST00000330684	ensembl	human	known	74_37	silent	59.38	13	19	SNP	0.998	C
HAVCR1	26762	genome.wustl.edu	37	5	156476082	156476082	+	Missense_Mutation	SNP	G	G	A			TCGA-R6-A6L4-01A-11D-A31U-09	TCGA-R6-A6L4-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	73e30098-463c-4d83-b6f7-dcc43fad6592	3fc2bd45-8cf9-420d-b900-a0fee703731d	g.chr5:156476082G>A	ENST00000339252.3	-	4	1280	c.748C>T	c.(748-750)Ccc>Tcc	p.P250S	HAVCR1_ENST00000544197.1_Missense_Mutation_p.P250S|HAVCR1_ENST00000522693.1_Missense_Mutation_p.P250S|HAVCR1_ENST00000517644.1_5'UTR|HAVCR1_ENST00000523175.1_Missense_Mutation_p.P250S|HAVCR1_ENST00000425854.1_Missense_Mutation_p.P250S	NM_012206.2	NP_036338.2	Q96D42	HAVR1_HUMAN	hepatitis A virus cellular receptor 1	245					viral process (GO:0016032)	integral component of membrane (GO:0016021)	virus receptor activity (GO:0001618)			endometrium(3)|large_intestine(2)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	28	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.0999)	Kidney(164;0.000171)|KIRC - Kidney renal clear cell carcinoma(164;0.000785)			GAGCTGGTGGGTTCTCTCCTT	0.463																																																	0													245.0	242.0	243.0					5																	156476082		2043	4185	6228	SO:0001583	missense	0			AF043724	CCDS43392.1	5q33.2	2014-01-14			ENSG00000113249	ENSG00000113249		"""Immunoglobulin superfamily / V-set domain containing"""	17866	protein-coding gene	gene with protein product	"""T-cell immunoglobulin mucin family member 1"""	606518				9658108, 11725301	Standard	NM_012206		Approved	HAVCR-1, TIM-1, TIM1, HAVCR, TIMD1	uc021ygj.1	Q96D42	OTTHUMG00000163466	ENST00000339252.3:c.748C>T	5.37:g.156476082G>A	ENSP00000344844:p.Pro250Ser		O43656	Missense_Mutation	SNP	pfam_Ig_V-set,smart_Ig_sub,pfscan_Ig-like_dom	p.P250S	ENST00000339252.3	37	c.748	CCDS43392.1	5	.	.	.	.	.	.	.	.	.	.	G	5.527	0.282097	0.10458	.	.	ENSG00000113249	ENST00000522693;ENST00000523175;ENST00000339252;ENST00000425854;ENST00000544197	T;T;T;T;T	0.16324	2.35;2.46;2.46;2.35;2.46	3.11	-1.19	0.09585	.	.	.	.	.	T	0.07007	0.0178	N	0.14661	0.345	0.09310	N	1	B;B;B	0.34290	0.447;0.447;0.447	B;B;B	0.29440	0.102;0.102;0.102	T	0.26883	-1.0090	9	0.51188	T	0.08	-2.6661	1.2902	0.02059	0.1256:0.1876:0.305:0.3819	.	250;245;245	E9PFX0;F1CME6;Q96D42	.;.;HAVR1_HUMAN	S	250	ENSP00000428524:P250S;ENSP00000427898:P250S;ENSP00000344844:P250S;ENSP00000403333:P250S;ENSP00000440258:P250S	ENSP00000344844:P250S	P	-	1	0	HAVCR1	156408660	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.182000	0.09726	-0.293000	0.08986	-1.113000	0.02065	CCC	HAVCR1	-	NULL	ENSG00000113249		0.463	HAVCR1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	HAVCR1	HGNC	protein_coding	OTTHUMT00000373698.1		0.00	87	0	G			156476082	-1			no_errors	ENST00000425854	ensembl	human	known	74_37	missense	6.98	40	3	SNP	0.000	A
HMCN1	83872	genome.wustl.edu	37	1	186034411	186034411	+	Missense_Mutation	SNP	C	C	T			TCGA-R6-A6L4-01A-11D-A31U-09	TCGA-R6-A6L4-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	73e30098-463c-4d83-b6f7-dcc43fad6592	3fc2bd45-8cf9-420d-b900-a0fee703731d	g.chr1:186034411C>T	ENST00000271588.4	+	49	7784	c.7555C>T	c.(7555-7557)Ccc>Tcc	p.P2519S	HMCN1_ENST00000367492.2_Missense_Mutation_p.P2519S	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	2519	Ig-like C2-type 23.				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						AGATGGGCAGCCCCTCCAAGA	0.408																																																	0													66.0	64.0	65.0					1																	186034411		2203	4300	6503	SO:0001583	missense	0			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.7555C>T	1.37:g.186034411C>T	ENSP00000271588:p.Pro2519Ser		A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_G2_nidogen/fibulin_G2F,pfam_EGF-like_Ca-bd_dom,pfam_Thrombospondin_1_rpt,superfamily_GFP,superfamily_Thrombospondin_1_rpt,superfamily_Growth_fac_rcpt_N_dom,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_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_G2_nidogen/fibulin_G2F,pfscan_Thrombospondin_1_rpt,pfscan_Ig-like_dom	p.P2519S	ENST00000271588.4	37	c.7555	CCDS30956.1	1	.	.	.	.	.	.	.	.	.	.	C	5.978	0.364388	0.11296	.	.	ENSG00000143341	ENST00000271588;ENST00000367492	T;T	0.67345	-0.26;-0.26	5.53	4.62	0.57501	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.518559	0.21536	N	0.072968	T	0.62478	0.2431	M	0.65677	2.01	0.28853	N	0.895942	B	0.32071	0.355	B	0.34931	0.192	T	0.54892	-0.8225	10	0.12103	T	0.63	.	11.567	0.50811	0.0:0.8071:0.1243:0.0686	.	2519	Q96RW7	HMCN1_HUMAN	S	2519	ENSP00000271588:P2519S;ENSP00000356462:P2519S	ENSP00000271588:P2519S	P	+	1	0	HMCN1	184301034	0.930000	0.31532	0.863000	0.33907	0.461000	0.32589	1.735000	0.38176	1.329000	0.45376	0.561000	0.74099	CCC	HMCN1	-	pfam_Ig_I-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,pfscan_Ig-like_dom	ENSG00000143341		0.408	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HMCN1	HGNC	protein_coding	OTTHUMT00000131848.1		0.00	49	0	C	NM_031935		186034411	+1			no_errors	ENST00000271588	ensembl	human	known	74_37	missense	41.46	24	17	SNP	0.953	T
HYDIN	54768	genome.wustl.edu	37	16	70917868	70917868	+	Missense_Mutation	SNP	G	G	T			TCGA-R6-A6L4-01A-11D-A31U-09	TCGA-R6-A6L4-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	73e30098-463c-4d83-b6f7-dcc43fad6592	3fc2bd45-8cf9-420d-b900-a0fee703731d	g.chr16:70917868G>T	ENST00000393567.2	-	59	10084	c.9934C>A	c.(9934-9936)Cct>Act	p.P3312T		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	3312					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)				ATGCCGGCAGGGTGGACTGCA	0.522																																																	0													53.0	57.0	56.0					16																	70917868		1961	4157	6118	SO:0001583	missense	0			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.9934C>A	16.37:g.70917868G>T	ENSP00000377197:p.Pro3312Thr		A6NC70|A6NLZ0|B4DQY4|B4DRN4|F5H6V3|Q8N3H8|Q8N3P6|Q8TC08|Q96JG3|Q96SS4|Q9H5U3|Q9H9B8|Q9NTI0|Q9UBE5	Missense_Mutation	SNP	superfamily_P-loop_NTPase,superfamily_PapD-like	p.P3312T	ENST00000393567.2	37	c.9934	CCDS59269.1	16	.	.	.	.	.	.	.	.	.	.	G	11.71	1.719248	0.30503	.	.	ENSG00000157423	ENST00000393567;ENST00000316490	T	0.01133	5.29	5.01	5.01	0.66863	.	0.000000	0.33023	U	0.005375	T	0.02807	0.0084	M	0.65975	2.015	0.80722	D	1	P	0.39903	0.694	B	0.43867	0.434	T	0.54669	-0.8259	10	0.48119	T	0.1	.	13.6469	0.62288	0.0:0.1554:0.8446:0.0	.	3311	F8WD23	.	T	3312;3311	ENSP00000377197:P3312T	ENSP00000313052:P3311T	P	-	1	0	HYDIN	69475369	1.000000	0.71417	0.081000	0.20488	0.008000	0.06430	5.610000	0.67668	2.325000	0.78763	0.511000	0.50034	CCT	HYDIN	-	NULL	ENSG00000157423		0.522	HYDIN-001	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	HYDIN	HGNC	protein_coding	OTTHUMT00000398624.3		0.00	35	0	G			70917868	-1			no_errors	ENST00000393567	ensembl	human	putative	74_37	missense	44.00	14	11	SNP	0.944	T
IFITM2	10581	genome.wustl.edu	37	11	308207	308207	+	Silent	SNP	G	G	A			TCGA-R6-A6L4-01A-11D-A31U-09	TCGA-R6-A6L4-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	73e30098-463c-4d83-b6f7-dcc43fad6592	3fc2bd45-8cf9-420d-b900-a0fee703731d	g.chr11:308207G>A	ENST00000399817.4	+	1	45	c.15G>A	c.(13-15)gtG>gtA	p.V5V	RP11-326C3.7_ENST00000526612.1_RNA|IFITM2_ENST00000533141.1_Intron|IFITM2_ENST00000602569.1_5'Flank	NM_006435.2	NP_006426.2	Q01629	IFM2_HUMAN	interferon induced transmembrane protein 2	5					cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|immune response (GO:0006955)|negative regulation of viral entry into host cell (GO:0046597)|negative regulation of viral genome replication (GO:0045071)|response to interferon-alpha (GO:0035455)|response to interferon-beta (GO:0035456)|response to interferon-gamma (GO:0034341)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(1)|kidney(1)|large_intestine(1)|lung(1)	4		all_cancers(49;2e-09)|all_epithelial(84;3.36e-06)|Breast(177;0.000162)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;5.73e-28)|Epithelial(43;3.42e-27)|OV - Ovarian serous cystadenocarcinoma(40;1.14e-20)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0328)|LUSC - Lung squamous cell carcinoma(625;0.122)		ACCACATTGTGCAAACCTTCT	0.567																																																	0													170.0	198.0	189.0					11																	308207		2032	4184	6216	SO:0001819	synonymous_variant	0			X57351	CCDS41583.1	11p15.5	2012-03-13	2012-03-13		ENSG00000185201	ENSG00000185201			5413	protein-coding gene	gene with protein product		605578	"""interferon induced transmembrane protein 2 (1-8D)"""			1906403	Standard	NM_006435		Approved	1-8D	uc001lox.4	Q01629		ENST00000399817.4:c.15G>A	11.37:g.308207G>A			Q6FH82|Q96DA8	Silent	SNP	pfam_CD225/Dispanin_fam	p.V5	ENST00000399817.4	37	c.15	CCDS41583.1	11																																																																																			IFITM2	-	NULL	ENSG00000185201		0.567	IFITM2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	IFITM2	HGNC	protein_coding	OTTHUMT00000383591.1		0.00	44	0	G	NM_006435		308207	+1			no_errors	ENST00000399817	ensembl	human	known	74_37	silent	8.70	21	2	SNP	0.000	A
IGSF10	285313	genome.wustl.edu	37	3	151156006	151156006	+	Missense_Mutation	SNP	C	C	G			TCGA-R6-A6L4-01A-11D-A31U-09	TCGA-R6-A6L4-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	73e30098-463c-4d83-b6f7-dcc43fad6592	3fc2bd45-8cf9-420d-b900-a0fee703731d	g.chr3:151156006C>G	ENST00000282466.3	-	6	6342	c.6343G>C	c.(6343-6345)Gga>Cga	p.G2115R	IGSF10_ENST00000495443.1_5'UTR	NM_001178145.1|NM_001178146.1|NM_178822.4	NP_001171616.1|NP_001171617.1|NP_849144.2	Q6WRI0	IGS10_HUMAN	immunoglobulin superfamily, member 10	2115	Ig-like C2-type 7.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|ossification (GO:0001503)	extracellular region (GO:0005576)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(24)|liver(4)|lung(43)|ovary(8)|prostate(4)|skin(9)|stomach(1)|urinary_tract(3)	116			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			GTATAATCTCCTTCCTCCGCT	0.448																																																	0													103.0	97.0	99.0					3																	151156006		2203	4300	6503	SO:0001583	missense	0			AY273815	CCDS3160.1	3q25.1	2013-01-11			ENSG00000152580	ENSG00000152580		"""Immunoglobulin superfamily / I-set domain containing"""	26384	protein-coding gene	gene with protein product						12477932	Standard	NM_178822		Approved	FLJ25972, CMF608	uc011bod.2	Q6WRI0	OTTHUMG00000159856	ENST00000282466.3:c.6343G>C	3.37:g.151156006C>G	ENSP00000282466:p.Gly2115Arg		Q86YJ9|Q8N772|Q8NA84	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Immunoglobulin,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,smart_Ig_V-set_subgr,pfscan_Ig-like_dom	p.G2115R	ENST00000282466.3	37	c.6343	CCDS3160.1	3	.	.	.	.	.	.	.	.	.	.	C	19.74	3.883202	0.72410	.	.	ENSG00000152580	ENST00000282466	T	0.60424	0.19	5.86	4.06	0.47325	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.47093	D	0.000246	D	0.84781	0.5548	H	0.99011	4.4	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.89043	0.3450	10	0.87932	D	0	.	12.6726	0.56876	0.0:0.8661:0.0:0.1339	.	2115;142	Q6WRI0;Q6WRI0-2	IGS10_HUMAN;.	R	2115	ENSP00000282466:G2115R	ENSP00000282466:G2115R	G	-	1	0	IGSF10	152638696	1.000000	0.71417	0.999000	0.59377	0.996000	0.88848	4.645000	0.61404	0.813000	0.34350	0.655000	0.94253	GGA	IGSF10	-	pfam_Ig_I-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like_dom	ENSG00000152580		0.448	IGSF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IGSF10	HGNC	protein_coding	OTTHUMT00000357782.1		0.00	63	0	C	NM_178822		151156006	-1			no_errors	ENST00000282466	ensembl	human	known	74_37	missense	44.44	15	12	SNP	1.000	G
IL1RAPL2	26280	genome.wustl.edu	37	X	105011435	105011435	+	Silent	SNP	C	C	A			TCGA-R6-A6L4-01A-11D-A31U-09	TCGA-R6-A6L4-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	73e30098-463c-4d83-b6f7-dcc43fad6592	3fc2bd45-8cf9-420d-b900-a0fee703731d	g.chrX:105011435C>A	ENST00000372582.1	+	11	2598	c.1842C>A	c.(1840-1842)atC>atA	p.I614I	IL1RAPL2_ENST00000344799.4_Silent_p.I614I	NM_017416.1	NP_059112.1	Q9NP60	IRPL2_HUMAN	interleukin 1 receptor accessory protein-like 2	614					central nervous system development (GO:0007417)|cytokine-mediated signaling pathway (GO:0019221)	integral component of membrane (GO:0016021)	interleukin-1 receptor activity (GO:0004908)|interleukin-1, Type II, blocking receptor activity (GO:0004910)			breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(14)|lung(23)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						CAATGCAAATCAGGCACTGTT	0.488																																																	0													113.0	103.0	106.0					X																	105011435		2203	4300	6503	SO:0001819	synonymous_variant	0			AF181285	CCDS14517.1	Xq22	2013-01-11			ENSG00000189108	ENSG00000189108		"""Interleukins and interleukin receptors"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5997	protein-coding gene	gene with protein product		300277				10757639	Standard	NM_017416		Approved	IL-1R9, TIGIRR-1, IL1RAPL-2, IL1R9	uc004elz.1	Q9NP60	OTTHUMG00000022141	ENST00000372582.1:c.1842C>A	X.37:g.105011435C>A			Q2M3U3|Q9NZN0	Silent	SNP	pfam_TIR_dom,superfamily_TIR_dom,smart_Ig_sub,smart_TIR_dom,pfscan_TIR_dom,pfscan_Ig-like_dom,prints_IL-1_rcpt_II-typ	p.I614	ENST00000372582.1	37	c.1842	CCDS14517.1	X																																																																																			IL1RAPL2	-	NULL	ENSG00000189108		0.488	IL1RAPL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IL1RAPL2	HGNC	protein_coding	OTTHUMT00000057785.1		0.00	19	0	C	NM_017416		105011435	+1			no_errors	ENST00000344799	ensembl	human	known	74_37	silent	72.73	3	8	SNP	1.000	A
IRX1	79192	genome.wustl.edu	37	5	3599410	3599410	+	Silent	SNP	T	T	G			TCGA-R6-A6L4-01A-11D-A31U-09	TCGA-R6-A6L4-10A-01D-A31U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	73e30098-463c-4d83-b6f7-dcc43fad6592	3fc2bd45-8cf9-420d-b900-a0fee703731d	g.chr5:3599410T>G	ENST00000302006.3	+	2	400	c.348T>G	c.(346-348)gcT>gcG	p.A116A	CTD-2012M11.3_ENST00000559410.1_RNA	NM_024337.3	NP_077313.3	P78414	IRX1_HUMAN	iroquois homeobox 1	116					proximal/distal pattern formation involved in metanephric nephron development (GO:0072272)|regulation of transcription, DNA-templated (GO:0006355)|specification of loop of Henle identity (GO:0072086)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			biliary_tract(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|pancreas(1)|prostate(5)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						CGGCGCCGGCTTATTACCCCT	0.657																																																	0													41.0	46.0	44.0					5																	3599410		2203	4299	6502	SO:0001819	synonymous_variant	0			U90307	CCDS34132.1	5p15.33	2011-12-16	2007-07-13		ENSG00000170549	ENSG00000170549		"""Homeoboxes / TALE class"""	14358	protein-coding gene	gene with protein product		606197					Standard	NM_024337		Approved	IRX-5	uc003jde.3	P78414	OTTHUMG00000161632	ENST00000302006.3:c.348T>G	5.37:g.3599410T>G			Q7Z2F8|Q8N312	Silent	SNP	pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,smart_Iroquois_homeo,pfscan_Homeobox_dom	p.A116	ENST00000302006.3	37	c.348	CCDS34132.1	5																																																																																			IRX1	-	superfamily_Homeodomain-like	ENSG00000170549		0.657	IRX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	IRX1	HGNC	protein_coding	OTTHUMT00000365546.1		0.00	30	0	T	NM_024337		3599410	+1			no_errors	ENST00000302006	ensembl	human	known	74_37	silent	30.77	18	8	SNP	1.000	G
KANK4	163782	genome.wustl.edu	37	1	62740610	62740611	+	Missense_Mutation	DNP	GA	GA	TG			TCGA-R6-A6L4-01A-11D-A31U-09	TCGA-R6-A6L4-10A-01D-A31U-09	G|A	G|A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	73e30098-463c-4d83-b6f7-dcc43fad6592	3fc2bd45-8cf9-420d-b900-a0fee703731d	g.chr1:62740610_62740611GA>TG	ENST00000371153.4	-	3	543_544	c.165_166TC>CA	c.(163-168)atTCct>atCAct	p.P56T	KANK4_ENST00000354381.3_Intron|KANK4_ENST00000371150.1_5'Flank	NM_181712.4	NP_859063.3	Q5T7N3	KANK4_HUMAN	KN motif and ankyrin repeat domains 4	56						cytoplasm (GO:0005737)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(49)|ovary(3)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)	81						CTGTGGATAGGAATTCTTTTGA	0.535																																																	0																																										SO:0001583	missense	0			AK096259	CCDS620.1	1p31.3	2013-10-11	2008-01-29	2008-01-29	ENSG00000132854	ENSG00000132854		"""KN motif and ankyrin repeat domain containing"", ""Ankyrin repeat domain containing"""	27263	protein-coding gene	gene with protein product		614612	"""ankyrin repeat domain 38"""	ANKRD38		17996375, 19554261	Standard	NM_181712		Approved	KIAA0172	uc001dah.4	Q5T7N3	OTTHUMG00000008971	ENST00000371153.4:c.165_166delinsTG	1.37:g.62740610_62740611delinsTG	ENSP00000360195:p.Pro56Thr		B1ALP7|Q6P9A0|Q86T71|Q86VE6|Q8NAX3	Missense_Mutation|Silent	SNP	pfam_KN_motif,pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.P56T|p.I55	ENST00000371153.4	37	c.166|c.165	CCDS620.1	1																																																																																			KANK4	-	pfam_KN_motif	ENSG00000132854		0.535	KANK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KANK4	HGNC	protein_coding	OTTHUMT00000024877.1		0.00	54	0	G|A	NM_181712		62740610|62740611	-1			no_errors	ENST00000371153	ensembl	human	known	74_37	missense|silent	40.00|38.10	12|13	8	SNP	0.964|0.972	T|G
KCND1	3750	genome.wustl.edu	37	X	48826500	48826500	+	Missense_Mutation	SNP	C	C	T			TCGA-R6-A6L4-01A-11D-A31U-09	TCGA-R6-A6L4-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	73e30098-463c-4d83-b6f7-dcc43fad6592	3fc2bd45-8cf9-420d-b900-a0fee703731d	g.chrX:48826500C>T	ENST00000218176.3	-	1	1476	c.179G>A	c.(178-180)cGc>cAc	p.R60H	KCND1_ENST00000376477.1_5'Flank	NM_004979.4	NP_004970.3	Q9NSA2	KCND1_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 1	60					protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	cell projection (GO:0042995)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|metal ion binding (GO:0046872)			endometrium(3)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(1)|soft_tissue(1)|upper_aerodigestive_tract(2)	24					Dalfampridine(DB06637)	GTCTGGGTAGCGGTCCAGCGT	0.587																																																	0													47.0	31.0	36.0					X																	48826500		2203	4300	6503	SO:0001583	missense	0			AF166003	CCDS14314.1	Xp11.23	2012-07-05			ENSG00000102057	ENSG00000102057		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6237	protein-coding gene	gene with protein product		300281				10729221, 16382104	Standard	NM_004979		Approved	Kv4.1	uc004dlx.1	Q9NSA2	OTTHUMG00000024127	ENST00000218176.3:c.179G>A	X.37:g.48826500C>T	ENSP00000218176:p.Arg60His		A6NEF1|B2RCG0|O75671	Missense_Mutation	SNP	pfam_K_chnl_volt-dep_Kv4_C,pfam_T1-type_BTB,pfam_Ion_trans_dom,pfam_Shal-type,pfam_2pore_dom_K_chnl_dom,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv4,prints_K_chnl_volt-dep_Kv4.1,prints_K_chnl_volt-dep_Kv,prints_K_chnl_volt-dep_Kv9,prints_K_chnl_volt-dep_Kv3	p.R60H	ENST00000218176.3	37	c.179	CCDS14314.1	X	.	.	.	.	.	.	.	.	.	.	C	20.9	4.071084	0.76301	.	.	ENSG00000102057	ENST00000218176	T	0.48522	0.81	4.25	4.25	0.50352	BTB/POZ-like (1);BTB/POZ fold (2);Potassium channel, voltage dependent, Kv, tetramerisation (1);	0.000000	0.85682	D	0.000000	T	0.69441	0.3111	M	0.90252	3.1	0.80722	D	1	D	0.89917	1.0	P	0.58210	0.835	T	0.78628	-0.2130	10	0.87932	D	0	.	14.8625	0.70392	0.0:1.0:0.0:0.0	.	60	Q9NSA2	KCND1_HUMAN	H	60	ENSP00000218176:R60H	ENSP00000218176:R60H	R	-	2	0	KCND1	48711444	1.000000	0.71417	1.000000	0.80357	0.832000	0.47134	4.833000	0.62766	2.096000	0.63516	0.513000	0.50165	CGC	KCND1	-	pfam_T1-type_BTB,superfamily_BTB/POZ_fold,smart_BTB/POZ-like	ENSG00000102057		0.587	KCND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KCND1	HGNC	protein_coding	OTTHUMT00000060774.1		0.00	17	0	C	NM_004979		48826500	-1			no_errors	ENST00000218176	ensembl	human	known	74_37	missense	15.38	22	4	SNP	1.000	T
KCNN3	3782	genome.wustl.edu	37	1	154705591	154705591	+	Missense_Mutation	SNP	T	T	G			TCGA-R6-A6L4-01A-11D-A31U-09	TCGA-R6-A6L4-10A-01D-A31U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	73e30098-463c-4d83-b6f7-dcc43fad6592	3fc2bd45-8cf9-420d-b900-a0fee703731d	g.chr1:154705591T>G	ENST00000271915.4	-	4	1793	c.1478A>C	c.(1477-1479)aAc>aCc	p.N493T	KCNN3_ENST00000361147.4_Missense_Mutation_p.N188T|KCNN3_ENST00000358505.2_Missense_Mutation_p.N180T	NM_001204087.1|NM_002249.5	NP_001191016.1|NP_002240.3	Q9UGI6	KCNN3_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 3	498					potassium ion transmembrane transport (GO:0071805)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	calmodulin binding (GO:0005516)|small conductance calcium-activated potassium channel activity (GO:0016286)			cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(11)|prostate(4)|skin(1)	28	all_lung(78;2.29e-27)|all_hematologic(923;0.088)|Hepatocellular(266;0.108)|all_neural(408;0.245)		BRCA - Breast invasive adenocarcinoma(34;0.00819)		Miconazole(DB01110)|Procaine(DB00721)	ACCCAGAAAGTTACTAGTTAC	0.517																																																	0													180.0	143.0	156.0					1																	154705591		2203	4300	6503	SO:0001583	missense	0			AF031815	CCDS1072.1, CCDS30880.1, CCDS72928.1	1q21.3	2012-07-05			ENSG00000143603	ENSG00000143603		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	6292	protein-coding gene	gene with protein product		602983				9491810, 16382103	Standard	NM_002249		Approved	KCa2.3, hSK3, SKCA3	uc021pah.1	Q9UGI6	OTTHUMG00000037260	ENST00000271915.4:c.1478A>C	1.37:g.154705591T>G	ENSP00000271915:p.Asn493Thr		B1ANX0|O43517|Q86VF9|Q8WXG7	Missense_Mutation	SNP	pfam_K_chnl_Ca-activ_SK,pfam_CaM-bd_dom,pfam_2pore_dom_K_chnl_dom,superfamily_CaM-bd_dom,prints_K_chnl_Ca-activ_SK	p.N493T	ENST00000271915.4	37	c.1478	CCDS30880.1	1	.	.	.	.	.	.	.	.	.	.	T	23.4	4.415762	0.83449	.	.	ENSG00000143603	ENST00000361147;ENST00000271915;ENST00000358505	T;T;T	0.21734	1.99;1.99;1.99	4.67	4.67	0.58626	Ion transport 2 (1);	0.000000	0.64402	D	0.000020	T	0.24967	0.0606	L	0.33710	1.025	0.58432	D	0.999999	D;B	0.69078	0.997;0.272	D;B	0.79108	0.992;0.249	T	0.04281	-1.0963	10	0.72032	D	0.01	-37.0852	13.9547	0.64140	0.0:0.0:0.0:1.0	.	498;188	Q9UGI6;Q9UGI6-2	KCNN3_HUMAN;.	T	188;493;180	ENSP00000354764:N188T;ENSP00000271915:N493T;ENSP00000351295:N180T	ENSP00000271915:N493T	N	-	2	0	KCNN3	152972215	1.000000	0.71417	1.000000	0.80357	0.934000	0.57294	6.061000	0.71148	1.970000	0.57323	0.533000	0.62120	AAC	KCNN3	-	pfam_2pore_dom_K_chnl_dom	ENSG00000143603		0.517	KCNN3-001	NOVEL	basic|appris_principal|CCDS	protein_coding	KCNN3	HGNC	protein_coding	OTTHUMT00000090688.3		0.00	53	0	T	NM_002249		154705591	-1			no_errors	ENST00000271915	ensembl	human	novel	74_37	missense	14.29	24	4	SNP	1.000	G
CEMIP	57214	genome.wustl.edu	37	15	81221382	81221382	+	Missense_Mutation	SNP	G	G	T			TCGA-R6-A6L4-01A-11D-A31U-09	TCGA-R6-A6L4-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	73e30098-463c-4d83-b6f7-dcc43fad6592	3fc2bd45-8cf9-420d-b900-a0fee703731d	g.chr15:81221382G>T	ENST00000394685.3	+	21	2898	c.2479G>T	c.(2479-2481)Gac>Tac	p.D827Y	KIAA1199_ENST00000356249.5_Missense_Mutation_p.D827Y|KIAA1199_ENST00000220244.3_Missense_Mutation_p.D827Y|RP11-351M8.2_ENST00000560873.1_RNA			Q8WUJ3	CEMIP_HUMAN		827					hyaluronan catabolic process (GO:0030214)|positive regulation of cell migration (GO:0030335)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of protein kinase C activity (GO:1900020)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|sensory perception of sound (GO:0007605)	clathrin-coated vesicle membrane (GO:0030665)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	clathrin heavy chain binding (GO:0032050)|ER retention sequence binding (GO:0046923)|hyaluronic acid binding (GO:0005540)|hyalurononglucosaminidase activity (GO:0004415)			breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(10)|lung(14)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	49						CCCGTATGACGACGGCTCCAA	0.517																																																	0													135.0	125.0	129.0					15																	81221382		2203	4300	6503	SO:0001583	missense	0																														ENST00000394685.3:c.2479G>T	15.37:g.81221382G>T	ENSP00000378177:p.Asp827Tyr		Q6L9J5|Q9H1K5|Q9NPN9|Q9ULM1	Missense_Mutation	SNP	pfam_G8_domain,superfamily_Pectin_lyase_fold/virulence	p.D827Y	ENST00000394685.3	37	c.2479	CCDS10315.1	15	.	.	.	.	.	.	.	.	.	.	G	16.39	3.110701	0.56398	.	.	ENSG00000103888	ENST00000220244;ENST00000394685;ENST00000356249;ENST00000394683	T;T;T	0.60171	0.21;0.21;0.21	4.87	4.87	0.63330	Pectin lyase fold/virulence factor (1);	0.000000	0.85682	D	0.000000	T	0.70228	0.3200	L	0.53249	1.67	0.80722	D	1	D	0.71674	0.998	P	0.61658	0.892	T	0.72924	-0.4144	10	0.62326	D	0.03	-25.9098	18.2156	0.89884	0.0:0.0:1.0:0.0	.	827	Q8WUJ3	K1199_HUMAN	Y	827	ENSP00000220244:D827Y;ENSP00000378177:D827Y;ENSP00000348583:D827Y	ENSP00000220244:D827Y	D	+	1	0	KIAA1199	79008437	1.000000	0.71417	0.098000	0.21074	0.125000	0.20455	8.746000	0.91604	2.518000	0.84900	0.655000	0.94253	GAC	KIAA1199	-	superfamily_Pectin_lyase_fold/virulence	ENSG00000103888		0.517	KIAA1199-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIAA1199	HGNC	protein_coding	OTTHUMT00000291389.1		0.00	63	0	G			81221382	+1			no_errors	ENST00000220244	ensembl	human	known	74_37	missense	6.12	46	3	SNP	1.000	T
Unknown	0	genome.wustl.edu	37	GL000209.1	88595	88595	+	IGR	SNP	G	G	T			TCGA-R6-A6L4-01A-11D-A31U-09	TCGA-R6-A6L4-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	73e30098-463c-4d83-b6f7-dcc43fad6592	3fc2bd45-8cf9-420d-b900-a0fee703731d	g.chrGL000209.1:88595G>T								None (None upstream) : None (None downstream)																							CGTGGTCACAGGTCAGAGGAC	0.607																																																	0																																										SO:0001628	intergenic_variant	0																															GL000209.1.37:g.88595G>T				Missense_Mutation	SNP	pfam_Immunoglobulin,smart_Ig_sub	p.G119C		37	c.355		GL000209.1																																																																																			KIR2DL2	-	NULL	ENSG00000215764	0	0.607					KIR2DL2	HGNC				0.00	46	0	G			88595	+1			no_errors	ENST00000391731	ensembl	human	known	74_37	missense	35.29	33	18	SNP	NULL	T
KLK2	3817	genome.wustl.edu	37	19	51381679	51381679	+	Missense_Mutation	SNP	T	T	C			TCGA-R6-A6L4-01A-11D-A31U-09	TCGA-R6-A6L4-10A-01D-A31U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	73e30098-463c-4d83-b6f7-dcc43fad6592	3fc2bd45-8cf9-420d-b900-a0fee703731d	g.chr19:51381679T>C	ENST00000325321.3	+	5	875	c.650T>C	c.(649-651)cTt>cCt	p.L217P	KLK2_ENST00000358049.4_3'UTR|KLK2_ENST00000391810.2_Missense_Mutation_p.L115P			P20151	KLK2_HUMAN	kallikrein-related peptidase 2	217	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	serine-type endopeptidase activity (GO:0004252)		KLK2/ETV1(3)|KLK2/ETV4(2)	large_intestine(3)|lung(6)|ovary(1)|skin(1)	11		all_neural(266;0.026)		OV - Ovarian serous cystadenocarcinoma(262;0.00758)|GBM - Glioblastoma multiforme(134;0.00871)		GGGGGTCCACTTGTCTGTAAT	0.537			T	ETV4	prostate																																			Dom	yes		19	19q13.41	3817	kallikrein-related peptidase 2		E	0													190.0	180.0	183.0					19																	51381679		2203	4300	6503	SO:0001583	missense	0			M18157	CCDS12808.1, CCDS42597.1, CCDS58675.1	19q13.33	2008-02-05	2006-10-27				3.4.21.35	"""Kallikreins"""	6363	protein-coding gene	gene with protein product		147960	"""kallikrein 2, prostatic"""			2468530, 16800724, 16800723	Standard	NM_005551		Approved		uc002ptv.3	P20151		ENST00000325321.3:c.650T>C	19.37:g.51381679T>C	ENSP00000313581:p.Leu217Pro		B4DU93|B4DUB0|F5H8L3|Q15946|Q9UJZ9	Missense_Mutation	SNP	pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A	p.L217P	ENST00000325321.3	37	c.650	CCDS12808.1	19	.	.	.	.	.	.	.	.	.	.	T	20.3	3.961561	0.74016	.	.	ENSG00000167751	ENST00000325321;ENST00000391810	D;D	0.92249	-3.0;-3.0	3.41	3.41	0.39046	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.000000	0.30901	N	0.008642	D	0.97096	0.9051	H	0.97564	4.03	0.43494	D	0.995732	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.96942	0.9688	10	0.87932	D	0	.	10.1097	0.42555	0.0:0.0:0.0:1.0	.	200;217	B4DU77;P20151	.;KLK2_HUMAN	P	217;115	ENSP00000313581:L217P;ENSP00000375686:L115P	ENSP00000313581:L217P	L	+	2	0	KLK2	56073491	0.938000	0.31826	0.010000	0.14722	0.644000	0.38419	6.127000	0.71642	1.319000	0.45190	0.383000	0.25322	CTT	KLK2	-	pfam_Peptidase_S1,superfamily_Trypsin-like_Pept_dom,smart_Peptidase_S1,pfscan_Peptidase_S1,prints_Peptidase_S1A	ENSG00000167751		0.537	KLK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KLK2	HGNC	protein_coding	OTTHUMT00000464438.3		0.00	111	0	T	NM_005551.3		51381679	+1			no_errors	ENST00000325321	ensembl	human	known	74_37	missense	39.09	67	43	SNP	0.802	C
KRT20	54474	genome.wustl.edu	37	17	39036389	39036389	+	Missense_Mutation	SNP	T	T	A			TCGA-R6-A6L4-01A-11D-A31U-09	TCGA-R6-A6L4-10A-01D-A31U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	73e30098-463c-4d83-b6f7-dcc43fad6592	3fc2bd45-8cf9-420d-b900-a0fee703731d	g.chr17:39036389T>A	ENST00000167588.3	-	4	796	c.755A>T	c.(754-756)aAg>aTg	p.K252M		NM_019010.2	NP_061883.1	P35900	K1C20_HUMAN	keratin 20	252	Coil 2.|Rod.				apoptotic process (GO:0006915)|cellular response to stress (GO:0033554)|intermediate filament organization (GO:0045109)|regulation of protein secretion (GO:0050708)	cytoplasm (GO:0005737)|intermediate filament (GO:0005882)	structural constituent of cytoskeleton (GO:0005200)			NS(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|skin(1)	14		Breast(137;0.000301)|Ovarian(249;0.15)				TTGAAGGTTCTTCTGGGCCAT	0.468																																																	0													215.0	187.0	196.0					17																	39036389		2203	4300	6503	SO:0001583	missense	0			BC031559	CCDS11379.1	17q21.2	2013-01-16			ENSG00000171431	ENSG00000171431		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	20412	protein-coding gene	gene with protein product		608218				8359595, 12515621, 16831889	Standard	NM_019010		Approved	CK20, K20, MGC35423	uc002hvl.3	P35900	OTTHUMG00000133366	ENST00000167588.3:c.755A>T	17.37:g.39036389T>A	ENSP00000167588:p.Lys252Met		B2R6W7	Missense_Mutation	SNP	pfam_IF,prints_Keratin_I	p.K252M	ENST00000167588.3	37	c.755	CCDS11379.1	17	.	.	.	.	.	.	.	.	.	.	T	23.8	4.461986	0.84425	.	.	ENSG00000171431	ENST00000167588	D	0.89939	-2.59	5.29	5.29	0.74685	Filament (1);	0.280099	0.30219	N	0.010129	D	0.96056	0.8715	H	0.95079	3.62	0.46609	D	0.999129	D	0.89917	1.0	D	0.72338	0.977	D	0.97305	0.9933	10	0.87932	D	0	.	15.2204	0.73306	0.0:0.0:0.0:1.0	.	252	P35900	K1C20_HUMAN	M	252	ENSP00000167588:K252M	ENSP00000167588:K252M	K	-	2	0	KRT20	36289915	1.000000	0.71417	1.000000	0.80357	0.843000	0.47879	7.538000	0.82048	1.999000	0.58509	0.402000	0.26972	AAG	KRT20	-	pfam_IF	ENSG00000171431		0.468	KRT20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT20	HGNC	protein_coding	OTTHUMT00000257202.2		0.00	37	0	T			39036389	-1			no_errors	ENST00000167588	ensembl	human	known	74_37	missense	54.84	14	17	SNP	1.000	A
KRT23	25984	genome.wustl.edu	37	17	39086215	39086215	+	Missense_Mutation	SNP	G	G	A			TCGA-R6-A6L4-01A-11D-A31U-09	TCGA-R6-A6L4-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	73e30098-463c-4d83-b6f7-dcc43fad6592	3fc2bd45-8cf9-420d-b900-a0fee703731d	g.chr17:39086215G>A	ENST00000209718.3	-	4	1037	c.613C>T	c.(613-615)Ctc>Ttc	p.L205F	KRT23_ENST00000436344.3_Missense_Mutation_p.L68F|AC004231.2_ENST00000418393.1_RNA	NM_015515.3	NP_056330.3	Q9C075	K1C23_HUMAN	keratin 23 (histone deacetylase inducible)	205	Coil 1B.|Rod.					intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	21		Breast(137;0.000301)|Ovarian(249;0.15)				TTCTTCATGAGAATGAGCTCT	0.498																																																	0													298.0	218.0	245.0					17																	39086215		2203	4300	6503	SO:0001583	missense	0			AF102848	CCDS11380.1, CCDS62182.1	17q21.2	2013-01-16			ENSG00000108244	ENSG00000108244		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6438	protein-coding gene	gene with protein product		606194				11135429, 16831889	Standard	NM_015515		Approved	K23, DKFZP434G032, HAIK1, CK23, MGC26158	uc002hvm.1	Q9C075	OTTHUMG00000133376	ENST00000209718.3:c.613C>T	17.37:g.39086215G>A	ENSP00000209718:p.Leu205Phe		A8K084|B7Z7J2|I3L3Q6|Q9NUR6	Missense_Mutation	SNP	pfam_IF,prints_Keratin_I	p.L205F	ENST00000209718.3	37	c.613	CCDS11380.1	17	.	.	.	.	.	.	.	.	.	.	G	10.82	1.459392	0.26248	.	.	ENSG00000108244	ENST00000209718;ENST00000436344	D;D	0.85171	-1.95;-1.95	5.74	5.74	0.90152	Filament (1);	0.000000	0.48286	D	0.000189	T	0.69333	0.3099	N	0.10664	0.02	0.35438	D	0.794648	P	0.39094	0.659	B	0.38880	0.284	T	0.72988	-0.4124	10	0.07644	T	0.81	.	13.1751	0.59621	0.0729:0.0:0.9271:0.0	.	205	Q9C075	K1C23_HUMAN	F	205;68	ENSP00000209718:L205F;ENSP00000414056:L68F	ENSP00000209718:L205F	L	-	1	0	KRT23	36339741	1.000000	0.71417	1.000000	0.80357	0.567000	0.35839	3.748000	0.55142	2.714000	0.92807	0.460000	0.39030	CTC	KRT23	-	pfam_IF	ENSG00000108244		0.498	KRT23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT23	HGNC	protein_coding	OTTHUMT00000257223.1		0.00	55	0	G			39086215	-1			no_errors	ENST00000209718	ensembl	human	known	74_37	missense	5.41	35	2	SNP	1.000	A
KRT72	140807	genome.wustl.edu	37	12	52984624	52984624	+	Missense_Mutation	SNP	T	T	G			TCGA-R6-A6L4-01A-11D-A31U-09	TCGA-R6-A6L4-10A-01D-A31U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	73e30098-463c-4d83-b6f7-dcc43fad6592	3fc2bd45-8cf9-420d-b900-a0fee703731d	g.chr12:52984624T>G	ENST00000537672.2	-	6	1095	c.1085A>C	c.(1084-1086)aAg>aCg	p.K362T	KRT72_ENST00000354310.4_Intron|KRT72_ENST00000293745.2_Missense_Mutation_p.K362T|KRT72_ENST00000398066.3_Missense_Mutation_p.K174T	NM_001146225.1	NP_001139697.1	Q14CN4	K2C72_HUMAN	keratin 72	362	Coil 2.|Rod.					extracellular vesicular exosome (GO:0070062)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(14)|ovary(5)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)	36				BRCA - Breast invasive adenocarcinoma(357;0.195)		ACCCACCTGCTTCTTCACATT	0.478																																																	0													94.0	90.0	91.0					12																	52984624		2203	4300	6503	SO:0001583	missense	0			AY033495	CCDS8833.1, CCDS53795.1	12q13.13	2013-06-25			ENSG00000170486	ENSG00000170486		"""-"", ""Intermediate filaments type II, keratins (basic)"""	28932	protein-coding gene	gene with protein product		608246				12648212, 11703281, 16831889	Standard	NM_080747		Approved	K6IRS2, KRT6IRS2, KRT6, K6irs	uc001saq.2	Q14CN4	OTTHUMG00000169744	ENST00000537672.2:c.1085A>C	12.37:g.52984624T>G	ENSP00000441160:p.Lys362Thr		B4DEI8|H9KV51|Q8NA87|Q8WWY9|Q8WWZ0	Missense_Mutation	SNP	pfam_IF,superfamily_Prefoldin,prints_Keratin_II	p.K362T	ENST00000537672.2	37	c.1085	CCDS8833.1	12	.	.	.	.	.	.	.	.	.	.	T	17.99	3.523878	0.64747	.	.	ENSG00000170486	ENST00000537672;ENST00000293745;ENST00000398066	T;T;D	0.89746	-0.96;-0.96;-2.56	5.14	5.14	0.70334	Filament (1);	0.000000	0.49916	D	0.000121	D	0.94089	0.8105	M	0.88704	2.975	0.29709	N	0.839556	D	0.76494	0.999	D	0.77557	0.99	D	0.90598	0.4542	10	0.51188	T	0.08	.	8.1671	0.31233	0.0:0.0729:0.1366:0.7905	.	362	Q14CN4	K2C72_HUMAN	T	362;362;174	ENSP00000441160:K362T;ENSP00000293745:K362T;ENSP00000446151:K174T	ENSP00000293745:K362T	K	-	2	0	KRT72	51270891	0.670000	0.27512	1.000000	0.80357	0.971000	0.66376	0.860000	0.27871	2.253000	0.74438	0.533000	0.62120	AAG	KRT72	-	pfam_IF	ENSG00000170486		0.478	KRT72-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT72	HGNC	protein_coding	OTTHUMT00000405693.1		0.00	35	0	T	NM_080747		52984624	-1			no_errors	ENST00000293745	ensembl	human	known	74_37	missense	60.00	8	12	SNP	0.998	G
KRT9	3857	genome.wustl.edu	37	17	39724612	39724612	+	Missense_Mutation	SNP	T	T	C			TCGA-R6-A6L4-01A-11D-A31U-09	TCGA-R6-A6L4-10A-01D-A31U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	73e30098-463c-4d83-b6f7-dcc43fad6592	3fc2bd45-8cf9-420d-b900-a0fee703731d	g.chr17:39724612T>C	ENST00000246662.4	-	6	1261	c.1196A>G	c.(1195-1197)gAa>gGa	p.E399G	KRT9_ENST00000588431.1_Missense_Mutation_p.E166G	NM_000226.3	NP_000217.2	P35527	K1C9_HUMAN	keratin 9	399	Coil 2.|Rod.				epidermis development (GO:0008544)|intermediate filament organization (GO:0045109)|skin development (GO:0043588)|spermatogenesis (GO:0007283)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|membrane (GO:0016020)|nucleus (GO:0005634)	structural constituent of cytoskeleton (GO:0005200)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25		Breast(137;0.000307)				CTTCGTGTCTTCCAAGCTCTT	0.522																																																	0													115.0	114.0	115.0					17																	39724612		2203	4300	6503	SO:0001583	missense	0				CCDS32654.1	17q21.2	2013-06-20	2008-08-01		ENSG00000171403	ENSG00000171403		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6447	protein-coding gene	gene with protein product	"""cytokeratin 9"", ""type I cytoskeletal 9"", ""epidermolytic palmoplantar keratoderma"""	607606				7512862, 16831889	Standard	NM_000226		Approved	EPPK, K9, CK-9	uc002hxe.4	P35527	OTTHUMG00000133599	ENST00000246662.4:c.1196A>G	17.37:g.39724612T>C	ENSP00000246662:p.Glu399Gly		O00109|Q0IJ47|Q14665	Missense_Mutation	SNP	pfam_IF,prints_Keratin_I	p.E399G	ENST00000246662.4	37	c.1196	CCDS32654.1	17	.	.	.	.	.	.	.	.	.	.	T	13.12	2.143249	0.37825	.	.	ENSG00000171403	ENST00000246662	D	0.88354	-2.37	5.03	3.93	0.45458	Filament (1);	0.000000	0.33290	N	0.005077	D	0.89403	0.6705	L	0.41906	1.305	0.26843	N	0.968338	D	0.53312	0.959	P	0.57846	0.828	T	0.82723	-0.0316	10	0.46703	T	0.11	.	11.8701	0.52515	0.0:0.0:0.4298:0.5701	.	399	P35527	K1C9_HUMAN	G	399	ENSP00000246662:E399G	ENSP00000246662:E399G	E	-	2	0	KRT9	36978138	0.034000	0.19679	0.978000	0.43139	0.788000	0.44548	0.071000	0.14594	0.716000	0.32124	0.386000	0.25728	GAA	KRT9	-	pfam_IF	ENSG00000171403		0.522	KRT9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT9	HGNC	protein_coding	OTTHUMT00000257707.1		0.00	67	0	T	NM_000226		39724612	-1			no_errors	ENST00000246662	ensembl	human	known	74_37	missense	7.84	47	4	SNP	0.842	C
LAMA4	3910	genome.wustl.edu	37	6	112457365	112457365	+	Missense_Mutation	SNP	G	G	A			TCGA-R6-A6L4-01A-11D-A31U-09	TCGA-R6-A6L4-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	73e30098-463c-4d83-b6f7-dcc43fad6592	3fc2bd45-8cf9-420d-b900-a0fee703731d	g.chr6:112457365G>A	ENST00000230538.7	-	25	3771	c.3374C>T	c.(3373-3375)aCg>aTg	p.T1125M	LAMA4_ENST00000389463.4_Missense_Mutation_p.T1118M|LAMA4_ENST00000522006.1_Missense_Mutation_p.T1118M|LAMA4_ENST00000424408.2_Missense_Mutation_p.T1118M	NM_001105206.2	NP_001098676.2	Q16363	LAMA4_HUMAN	laminin, alpha 4	1125	Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.				blood vessel development (GO:0001568)|brown fat cell differentiation (GO:0050873)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)	extracellular matrix structural constituent (GO:0005201)	p.T1118M(1)		NS(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(42)|ovary(4)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(8)	100		all_cancers(87;0.000196)|all_hematologic(75;0.000114)|all_epithelial(87;0.00542)|Colorectal(196;0.0209)		all cancers(137;0.0335)|OV - Ovarian serous cystadenocarcinoma(136;0.0578)|Epithelial(106;0.0748)|BRCA - Breast invasive adenocarcinoma(108;0.242)		TTTCTTTAACGTATCTTCAAG	0.363																																																	1	Substitution - Missense(1)	large_intestine(1)											137.0	122.0	127.0					6																	112457365		2203	4300	6503	SO:0001583	missense	0				CCDS34514.1, CCDS43491.1, CCDS43492.1	6q21	2014-09-17			ENSG00000112769	ENSG00000112769		"""Laminins"""	6484	protein-coding gene	gene with protein product		600133				7959779	Standard	NM_001105206		Approved	LAMA3	uc003pvu.3	Q16363	OTTHUMG00000015386	ENST00000230538.7:c.3374C>T	6.37:g.112457365G>A	ENSP00000230538:p.Thr1125Met		Q14731|Q14735|Q15335|Q4LE44|Q5SZG8|Q9BTB8|Q9UE18|Q9UJN9	Missense_Mutation	SNP	pfam_Laminin_G,pfam_Laminin_I,pfam_Laminin_II,pfam_EGF_laminin,superfamily_ConA-like_lec_gl_sf,superfamily_Focal_adhesion_kin_target_dom,smart_EGF_laminin,smart_EG-like_dom,smart_Laminin_G,pfscan_EGF_laminin,pfscan_Laminin_G	p.T1125M	ENST00000230538.7	37	c.3374	CCDS43491.1	6	.	.	.	.	.	.	.	.	.	.	g	17.31	3.357414	0.61293	.	.	ENSG00000112769	ENST00000230538;ENST00000522006;ENST00000389463;ENST00000424408	T;T;T;T	0.79845	-1.31;-1.31;-1.31;-1.31	5.93	5.07	0.68467	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.202649	0.51477	N	0.000086	T	0.70745	0.3259	N	0.08118	0	0.80722	D	1	D;D	0.76494	0.999;0.999	P;P	0.60886	0.88;0.809	T	0.80106	-0.1521	10	0.59425	D	0.04	.	15.3825	0.74669	0.0666:0.0:0.9334:0.0	.	1125;1118	Q16363;Q16363-2	LAMA4_HUMAN;.	M	1125;1118;1118;1118	ENSP00000230538:T1125M;ENSP00000429488:T1118M;ENSP00000374114:T1118M;ENSP00000416470:T1118M	ENSP00000230538:T1125M	T	-	2	0	LAMA4	112564058	1.000000	0.71417	0.896000	0.35187	0.415000	0.31203	5.135000	0.64777	1.527000	0.49086	-0.119000	0.15052	ACG	LAMA4	-	pfam_Laminin_G,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G,pfscan_Laminin_G	ENSG00000112769		0.363	LAMA4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	LAMA4	HGNC	protein_coding	OTTHUMT00000041876.2		0.00	53	0	G	NM_001105206		112457365	-1			no_errors	ENST00000230538	ensembl	human	known	74_37	missense	7.41	25	2	SNP	0.986	A
LIMD2	80774	genome.wustl.edu	37	17	61776262	61776262	+	Missense_Mutation	SNP	C	C	T			TCGA-R6-A6L4-01A-11D-A31U-09	TCGA-R6-A6L4-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	73e30098-463c-4d83-b6f7-dcc43fad6592	3fc2bd45-8cf9-420d-b900-a0fee703731d	g.chr17:61776262C>T	ENST00000259006.3	-	4	279	c.121G>A	c.(121-123)Gcc>Acc	p.A41T	LIMD2_ENST00000578402.1_Missense_Mutation_p.A41T|LIMD2_ENST00000578993.1_Intron|LIMD2_ENST00000578061.1_Missense_Mutation_p.A41T|LIMD2_ENST00000583211.1_5'UTR|LIMD2_ENST00000582055.1_5'UTR	NM_030576.3	NP_085053.1	Q9BT23	LIMD2_HUMAN	LIM domain containing 2	41	LIM zinc-binding. {ECO:0000255|PROSITE- ProRule:PRU00125}.						zinc ion binding (GO:0008270)			kidney(1)|lung(2)	3						TGGCAGGCGGCGCAGGTCTCC	0.632																																																	0													60.0	62.0	61.0					17																	61776262		2203	4300	6503	SO:0001583	missense	0			AK092301	CCDS11641.1	17q23.3	2006-02-03				ENSG00000136490			28142	protein-coding gene	gene with protein product						12477932	Standard	NM_030576		Approved	MGC10986	uc002jbj.4	Q9BT23		ENST00000259006.3:c.121G>A	17.37:g.61776262C>T	ENSP00000259006:p.Ala41Thr		D3DU16|Q96S91	Missense_Mutation	SNP	pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM	p.A41T	ENST00000259006.3	37	c.121	CCDS11641.1	17	.	.	.	.	.	.	.	.	.	.	C	4.203	0.036330	0.08148	.	.	ENSG00000136490	ENST00000259006	D	0.88741	-2.42	4.53	0.256	0.15567	Zinc finger, LIM-type (5);	0.541906	0.19623	N	0.109866	T	0.76054	0.3934	L	0.28776	0.89	0.21473	N	0.999677	B	0.02656	0.0	B	0.04013	0.001	T	0.56768	-0.7924	10	0.16896	T	0.51	-13.2895	3.1145	0.06370	0.3102:0.2937:0.0:0.3961	.	41	Q9BT23	LIMD2_HUMAN	T	41	ENSP00000259006:A41T	ENSP00000259006:A41T	A	-	1	0	LIMD2	59129994	0.002000	0.14202	0.004000	0.12327	0.990000	0.78478	-0.041000	0.12084	-0.052000	0.13311	0.462000	0.41574	GCC	LIMD2	-	pfam_Znf_LIM,smart_Znf_LIM,pfscan_Znf_LIM	ENSG00000136490		0.632	LIMD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LIMD2	HGNC	protein_coding	OTTHUMT00000443877.1		0.00	9	0	C	NM_030576		61776262	-1			no_errors	ENST00000259006	ensembl	human	known	74_37	missense	50.00	3	3	SNP	0.004	T
LRRIQ3	127255	genome.wustl.edu	37	1	74575235	74575235	+	Missense_Mutation	SNP	G	G	A			TCGA-R6-A6L4-01A-11D-A31U-09	TCGA-R6-A6L4-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	73e30098-463c-4d83-b6f7-dcc43fad6592	3fc2bd45-8cf9-420d-b900-a0fee703731d	g.chr1:74575235G>A	ENST00000395089.1	-	4	709	c.710C>T	c.(709-711)cCt>cTt	p.P237L	LRRIQ3_ENST00000370909.2_Missense_Mutation_p.P129L|LRRIQ3_ENST00000354431.4_Missense_Mutation_p.P237L|LRRIQ3_ENST00000468759.1_5'UTR			A6PVS8	LRIQ3_HUMAN	leucine-rich repeats and IQ motif containing 3	237	IQ. {ECO:0000255|PROSITE- ProRule:PRU00116}.									NS(2)|breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(13)|liver(1)|lung(27)|ovary(3)|prostate(1)|skin(5)|soft_tissue(1)|upper_aerodigestive_tract(5)	73						GAAAAACACAGGGCTGAATAT	0.318																																																	0													104.0	88.0	93.0					1																	74575235		1786	4051	5837	SO:0001583	missense	0			BX647210	CCDS41350.1	1p31.1	2008-06-12	2008-06-12	2008-06-12	ENSG00000162620	ENSG00000162620			28318	protein-coding gene	gene with protein product			"""leucine rich repeat containing 44"""	LRRC44		12477932	Standard	NM_001105659		Approved	MGC22773	uc001dfy.4	A6PVS8	OTTHUMG00000009508	ENST00000395089.1:c.710C>T	1.37:g.74575235G>A	ENSP00000378524:p.Pro237Leu		A6PVS9|Q6P5P7|Q6ZMV4|Q8WUE0	Missense_Mutation	SNP	pfscan_IQ_motif_EF-hand-BS	p.P237L	ENST00000395089.1	37	c.710	CCDS41350.1	1	.	.	.	.	.	.	.	.	.	.	G	9.166	1.019897	0.19355	.	.	ENSG00000162620	ENST00000395089;ENST00000354431;ENST00000370909;ENST00000388972	T;T;T	0.30448	3.06;3.06;1.53	3.83	-2.15	0.07102	.	40.222200	0.00357	N	0.000021	T	0.10252	0.0251	L	0.51422	1.61	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.19192	-1.0313	10	0.25106	T	0.35	.	7.1473	0.25591	0.0991:0.0:0.2253:0.6756	.	237	A6PVS8	LRIQ3_HUMAN	L	237;237;129;237	ENSP00000378524:P237L;ENSP00000346414:P237L;ENSP00000359946:P129L	ENSP00000346414:P237L	P	-	2	0	LRRIQ3	74347823	0.000000	0.05858	0.001000	0.08648	0.084000	0.17831	-0.532000	0.06164	-0.404000	0.07610	0.585000	0.79938	CCT	LRRIQ3	-	pfscan_IQ_motif_EF-hand-BS	ENSG00000162620		0.318	LRRIQ3-008	NOVEL	not_organism_supported|basic|appris_principal|CCDS	protein_coding	LRRIQ3	HGNC	protein_coding	OTTHUMT00000316539.1		0.00	103	0	G	NM_145258		74575235	-1			no_errors	ENST00000354431	ensembl	human	known	74_37	missense	7.02	53	4	SNP	0.000	A
LTBP1	4052	genome.wustl.edu	37	2	33482362	33482362	+	Nonsense_Mutation	SNP	G	G	T			TCGA-R6-A6L4-01A-11D-A31U-09	TCGA-R6-A6L4-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	73e30098-463c-4d83-b6f7-dcc43fad6592	3fc2bd45-8cf9-420d-b900-a0fee703731d	g.chr2:33482362G>T	ENST00000404816.2	+	12	2532	c.2179G>T	c.(2179-2181)Gaa>Taa	p.E727*	LTBP1_ENST00000390003.4_Nonsense_Mutation_p.E401*|LTBP1_ENST00000418533.2_Nonsense_Mutation_p.E401*|LTBP1_ENST00000404525.1_Intron|LTBP1_ENST00000354476.3_Nonsense_Mutation_p.E727*|LTBP1_ENST00000407925.1_Nonsense_Mutation_p.E401*|LTBP1_ENST00000402934.1_Intron			Q14766	LTBP1_HUMAN	latent transforming growth factor beta binding protein 1	727	TB 2.				extracellular matrix organization (GO:0030198)|sequestering of TGFbeta in extracellular matrix (GO:0035583)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|transforming growth factor beta binding (GO:0050431)|transforming growth factor beta-activated receptor activity (GO:0005024)			breast(2)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(13)|lung(60)|ovary(4)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(3)	108	all_hematologic(175;0.115)	Medulloblastoma(90;0.215)				TGCTTTTAAGGAAATCTGTCC	0.383																																																	0													76.0	75.0	75.0					2																	33482362		2203	4300	6503	SO:0001587	stop_gained	0				CCDS33177.1, CCDS33178.1, CCDS33177.2, CCDS33178.2, CCDS54344.1, CCDS54345.1	2p22-p21	2008-05-23			ENSG00000049323	ENSG00000049323		"""Latent transforming growth factor, beta binding proteins"""	6714	protein-coding gene	gene with protein product	"""TGF-beta1-BP-1"""	150390				2350783, 11104663	Standard	NM_206943		Approved		uc021vft.1	Q14766	OTTHUMG00000152118	ENST00000404816.2:c.2179G>T	2.37:g.33482362G>T	ENSP00000386043:p.Glu727*		A1L3V1|P22064|Q53SD8|Q53SF3|Q53SG1|Q59HF7|Q8TD95	Nonsense_Mutation	SNP	pfam_EGF-like_Ca-bd_dom,pfam_TB_dom,pfam_EG-like_dom,superfamily_TB_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,pfscan_EG-like_dom	p.E727*	ENST00000404816.2	37	c.2179	CCDS33177.2	2	.	.	.	.	.	.	.	.	.	.	G	40	7.930937	0.98568	.	.	ENSG00000049323	ENST00000404816;ENST00000354476;ENST00000390003;ENST00000418533;ENST00000407925;ENST00000468091	.	.	.	5.81	5.81	0.92471	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.59425	D	0.04	.	20.0784	0.97758	0.0:0.0:1.0:0.0	.	.	.	.	X	727;727;401;401;401;44	.	ENSP00000346467:E727X	E	+	1	0	LTBP1	33335866	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.850000	0.92190	2.736000	0.93811	0.655000	0.94253	GAA	LTBP1	-	pfam_TB_dom,superfamily_TB_dom	ENSG00000049323		0.383	LTBP1-014	KNOWN	basic|appris_candidate|CCDS	protein_coding	LTBP1	HGNC	protein_coding	OTTHUMT00000326227.2		0.00	86	0	G	NM_206943		33482362	+1			no_errors	ENST00000354476	ensembl	human	known	74_37	nonsense	6.25	75	5	SNP	1.000	T
MAGEL2	54551	genome.wustl.edu	37	15	23890550	23890550	+	Silent	SNP	C	C	T			TCGA-R6-A6L4-01A-11D-A31U-09	TCGA-R6-A6L4-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	73e30098-463c-4d83-b6f7-dcc43fad6592	3fc2bd45-8cf9-420d-b900-a0fee703731d	g.chr15:23890550C>T	ENST00000532292.1	-	1	625	c.531G>A	c.(529-531)ccG>ccA	p.P177P		NM_019066.4	NP_061939.3	Q9UJ55	MAGL2_HUMAN	MAGE-like 2	60					Arp2/3 complex-mediated actin nucleation (GO:0034314)|protein K63-linked ubiquitination (GO:0070534)|retrograde transport, endosome to Golgi (GO:0042147)	endosome (GO:0005768)	ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)		all cancers(64;1.84e-06)|Epithelial(43;1.2e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177)		CAAAGGTCTCCGGTGTGGCAG	0.587																																																	0													56.0	63.0	61.0					15																	23890550		2017	4195	6212	SO:0001819	synonymous_variant	0			AJ243531	CCDS73700.1	15q11-q12	2008-07-18				ENSG00000254585			6814	protein-coding gene	gene with protein product		605283		NDNL1		10556298	Standard	NM_019066		Approved	nM15	uc001ywj.4	Q9UJ55		ENST00000532292.1:c.531G>A	15.37:g.23890550C>T				Silent	SNP	pfam_MAGE,pfscan_MAGE	p.P177	ENST00000532292.1	37	c.531		15	.	.	.	.	.	.	.	.	.	.	C	0.019	-1.462186	0.01062	.	.	ENSG00000254585	ENST00000532292	.	.	.	4.08	-6.14	0.02111	.	.	.	.	.	T	0.15652	0.0377	.	.	.	0.24552	N	0.994015	.	.	.	.	.	.	T	0.25676	-1.0125	4	.	.	.	.	0.7996	0.01072	0.3769:0.3038:0.1197:0.1996	.	.	.	.	Q	209	.	.	R	-	2	0	MAGEL2	21441643	0.000000	0.05858	0.009000	0.14445	0.035000	0.12851	-2.780000	0.00773	-1.124000	0.02936	-0.953000	0.02652	CGG	MAGEL2	-	NULL	ENSG00000254585		0.587	MAGEL2-001	KNOWN	basic|appris_principal	protein_coding	MAGEL2	HGNC	protein_coding	OTTHUMT00000395182.2		0.00	38	0	C	NM_019066		23890550	-1			no_errors	ENST00000532292	ensembl	human	known	74_37	silent	43.48	13	10	SNP	0.018	T
MAPK10	5602	genome.wustl.edu	37	4	86938393	86938393	+	Silent	SNP	A	A	T			TCGA-R6-A6L4-01A-11D-A31U-09	TCGA-R6-A6L4-10A-01D-A31U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	73e30098-463c-4d83-b6f7-dcc43fad6592	3fc2bd45-8cf9-420d-b900-a0fee703731d	g.chr4:86938393A>T	ENST00000359221.3	-	14	1909	c.1383T>A	c.(1381-1383)ggT>ggA	p.G461G	MAPK10_ENST00000395160.3_3'UTR|MAPK10_ENST00000395169.3_Silent_p.G423G|MAPK10_ENST00000395157.3_Silent_p.G316G|MAPK10_ENST00000395166.1_Silent_p.G423G|MAPK10_ENST00000361569.2_3'UTR|MAPK10_ENST00000449047.2_Silent_p.G316G			P53779	MK10_HUMAN	mitogen-activated protein kinase 10	461					activation of MAPK activity (GO:0000187)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|JNK cascade (GO:0007254)|JUN phosphorylation (GO:0007258)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|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)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|JUN kinase activity (GO:0004705)|MAP kinase kinase activity (GO:0004708)			breast(1)|central_nervous_system(1)|stomach(1)	3		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.243)		OV - Ovarian serous cystadenocarcinoma(123;0.002)		ACCTGCAACAACCCAGGGGTC	0.567																																																	0													88.0	91.0	90.0					4																	86938393		2203	4300	6503	SO:0001819	synonymous_variant	0			U07620	CCDS3612.1, CCDS3613.1, CCDS34026.1, CCDS43247.1	4q22-q23	2011-06-09			ENSG00000109339	ENSG00000109339	2.7.11.1	"""Mitogen-activated protein kinase cascade / Kinases"""	6872	protein-coding gene	gene with protein product		602897		PRKM10		8654373, 12436199	Standard	NM_002753		Approved	JNK3, p493F12, p54bSAPK	uc003hpt.3	P53779	OTTHUMG00000130604	ENST00000359221.3:c.1383T>A	4.37:g.86938393A>T			A6NFS3|A6NG28|B3KQ94|Q15707|Q49AP1	Silent	SNP	pfam_Prot_kinase_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_MAPK_JNK,pfscan_Prot_kinase_dom	p.G461	ENST00000359221.3	37	c.1383	CCDS34026.1	4																																																																																			MAPK10	-	NULL	ENSG00000109339		0.567	MAPK10-012	KNOWN	basic|CCDS	protein_coding	MAPK10	HGNC	protein_coding	OTTHUMT00000361363.2		0.00	62	0	A			86938393	-1			no_errors	ENST00000359221	ensembl	human	known	74_37	silent	37.04	17	10	SNP	1.000	T
MAPT	4137	genome.wustl.edu	37	17	44060543	44060543	+	Splice_Site	SNP	G	G	C			TCGA-R6-A6L4-01A-11D-A31U-09	TCGA-R6-A6L4-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	73e30098-463c-4d83-b6f7-dcc43fad6592	3fc2bd45-8cf9-420d-b900-a0fee703731d	g.chr17:44060543G>C	ENST00000571987.1	+	5	373		c.e5-1		MAPT_ENST00000535772.1_Intron|MAPT_ENST00000347967.5_Intron|MAPT_ENST00000351559.5_Intron|MAPT_ENST00000431008.3_Intron|MAPT_ENST00000576518.1_Intron|MAPT_ENST00000344290.5_Splice_Site|MAPT_ENST00000420682.2_Intron|MAPT_ENST00000340799.5_Intron|MAPT_ENST00000415613.2_Splice_Site|MAPT_ENST00000334239.8_Intron|MAPT_ENST00000574436.1_Intron|MAPT_ENST00000446361.3_Intron|MAPT_ENST00000262410.5_Splice_Site|MAPT_ENST00000570299.1_Intron			P10636	TAU_HUMAN	microtubule-associated protein tau						adult walking behavior (GO:0007628)|apoptotic process (GO:0006915)|axon cargo transport (GO:0008088)|axon extension (GO:0048675)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|generation of neurons (GO:0048699)|microtubule cytoskeleton organization (GO:0000226)|mitochondrion transport along microtubule (GO:0047497)|negative regulation of intracellular transport (GO:0032387)|neuron migration (GO:0001764)|positive regulation of axon extension (GO:0045773)|positive regulation of microtubule polymerization (GO:0031116)|regulation of autophagy (GO:0010506)|regulation of microtubule polymerization (GO:0031113)|regulation of microtubule-based movement (GO:0060632)	axon (GO:0030424)|axoneme (GO:0005930)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|growth cone (GO:0030426)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|nuclear periphery (GO:0034399)|plasma membrane (GO:0005886)|tubulin complex (GO:0045298)	apolipoprotein binding (GO:0034185)|enzyme binding (GO:0019899)|lipoprotein particle binding (GO:0071813)|microtubule binding (GO:0008017)|SH3 domain binding (GO:0017124)|structural constituent of cytoskeleton (GO:0005200)			breast(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	38		Melanoma(429;0.216)			Docetaxel(DB01248)|Paclitaxel(DB01229)	TCTCCACACAGAGCCTGAAAG	0.657																																																	0													23.0	20.0	21.0					17																	44060543		2203	4299	6502	SO:0001630	splice_region_variant	0			J03778	CCDS11499.1, CCDS11500.1, CCDS11501.1, CCDS11502.1, CCDS45715.1, CCDS45716.1, CCDS56033.1	17q21	2014-09-17			ENSG00000186868	ENSG00000186868			6893	protein-coding gene	gene with protein product	"""G protein beta1/gamma2 subunit-interacting factor 1"", ""microtubule-associated protein tau, isoform 4"", ""protein phosphatase 1, regulatory subunit 103"""	157140		DDPAC, MAPTL		7936241, 3131773	Standard	NM_001123067		Approved	MTBT1, tau, PPND, FTDP-17, TAU, MSTD, MTBT2, FLJ31424, MGC138549, PPP1R103	uc010dau.3	P10636	OTTHUMG00000168833	ENST00000571987.1:c.374-1G>C	17.37:g.44060543G>C			P18518|Q14799|Q15549|Q15550|Q15551|Q1RMF6|Q53YB1|Q5CZI7|Q5XWF0|Q6QT54|Q9UDJ3|Q9UMH0|Q9UQ96	Splice_Site	SNP	-	e5-1	ENST00000571987.1	37	c.374-1	CCDS11501.1	17	.	.	.	.	.	.	.	.	.	.	G	7.586	0.669657	0.14776	.	.	ENSG00000186868	ENST00000344290;ENST00000262410;ENST00000415613	.	.	.	5.15	3.16	0.36331	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	0.999998	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.4869	0.22093	0.0964:0.1854:0.7182:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	MAPT	41416380	0.030000	0.19436	0.023000	0.16930	0.008000	0.06430	1.580000	0.36547	1.183000	0.42943	-0.225000	0.12378	.	MAPT	-	-	ENSG00000186868		0.657	MAPT-008	NOVEL	basic|appris_candidate|CCDS	protein_coding	MAPT	HGNC	protein_coding	OTTHUMT00000440133.1		0.00	47	0	G	NM_016835	Intron	44060543	+1			no_errors	ENST00000344290	ensembl	human	known	74_37	splice_site	33.33	10	5	SNP	0.001	C
MEIS1	4211	genome.wustl.edu	37	2	66775136	66775136	+	Missense_Mutation	SNP	T	T	G			TCGA-R6-A6L4-01A-11D-A31U-09	TCGA-R6-A6L4-10A-01D-A31U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	73e30098-463c-4d83-b6f7-dcc43fad6592	3fc2bd45-8cf9-420d-b900-a0fee703731d	g.chr2:66775136T>G	ENST00000272369.9	+	9	1407	c.950T>G	c.(949-951)cTt>cGt	p.L317R	MEIS1_ENST00000495021.2_Missense_Mutation_p.L252R|MEIS1_ENST00000488550.1_Missense_Mutation_p.L317R|MEIS1_ENST00000398506.2_Missense_Mutation_p.L315R|MEIS1_ENST00000409517.1_3'UTR|MEIS1_ENST00000407092.2_Missense_Mutation_p.L317R|MEIS1_ENST00000560281.2_Missense_Mutation_p.L317R|MEIS1_ENST00000444274.2_3'UTR	NM_002398.2	NP_002389.1	O00470	MEIS1_HUMAN	Meis homeobox 1	317					angiogenesis (GO:0001525)|definitive hemopoiesis (GO:0060216)|lens morphogenesis in camera-type eye (GO:0002089)|megakaryocyte development (GO:0035855)|negative regulation of myeloid cell differentiation (GO:0045638)|negative regulation of neuron differentiation (GO:0045665)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|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 distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)			breast(1)|endometrium(1)|kidney(2)|large_intestine(6)|lung(10)|prostate(2)|skin(1)|urinary_tract(1)	24						CTCACCATCCTTCAAGTGAAC	0.428																																																	0													117.0	116.0	116.0					2																	66775136		1949	4148	6097	SO:0001583	missense	0				CCDS46309.1	2p14	2011-06-20	2007-02-15		ENSG00000143995	ENSG00000143995		"""Homeoboxes / TALE class"""	7000	protein-coding gene	gene with protein product		601739	"""Meis1 (mouse) homolog"", ""Meis1, myeloid ecotropic viral integration site 1 homolog (mouse)"""			7565694	Standard	NM_002398		Approved		uc002sdu.3	O00470	OTTHUMG00000150714	ENST00000272369.9:c.950T>G	2.37:g.66775136T>G	ENSP00000272369:p.Leu317Arg		A8MV50	Missense_Mutation	SNP	pfam_Homeobox_dom,pfam_Homeobox_KN_domain,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom	p.L317R	ENST00000272369.9	37	c.950	CCDS46309.1	2	.	.	.	.	.	.	.	.	.	.	T	18.18	3.565845	0.65651	.	.	ENSG00000143995	ENST00000272369;ENST00000407092;ENST00000398506;ENST00000495021;ENST00000402908;ENST00000409517;ENST00000450027	D;D;D;D;D;D	0.90676	-2.71;-2.71;-2.71;-2.71;-2.71;-2.71	5.67	5.67	0.87782	Homeodomain-related (1);Homeobox (2);Homeobox KN domain (1);Homeodomain-like (1);	0.000000	0.85682	D	0.000000	D	0.89515	0.6737	N	0.04132	-0.27	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.997;0.999;0.997;0.999	D	0.92688	0.6164	10	0.87932	D	0	.	16.2045	0.82114	0.0:0.0:0.0:1.0	.	252;315;317;317	F5GYS8;O00470-2;O00470;F8W8U3	.;.;MEIS1_HUMAN;.	R	317;317;315;252;173;67;129	ENSP00000272369:L317R;ENSP00000384461:L317R;ENSP00000381518:L315R;ENSP00000440571:L252R;ENSP00000386708:L67R;ENSP00000395827:L129R	ENSP00000272369:L317R	L	+	2	0	MEIS1	66628640	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.997000	0.88414	2.288000	0.76882	0.533000	0.62120	CTT	MEIS1	-	pfam_Homeobox_dom,pfam_Homeobox_KN_domain,superfamily_Homeodomain-like,smart_Homeobox_dom,pfscan_Homeobox_dom	ENSG00000143995		0.428	MEIS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MEIS1	HGNC	protein_coding	OTTHUMT00000319725.4		0.00	83	0	T	NM_002398		66775136	+1			no_errors	ENST00000407092	ensembl	human	known	74_37	missense	21.05	60	16	SNP	1.000	G
MOG	4340	genome.wustl.edu	37	6	29638637	29638637	+	Intron	SNP	A	A	C			TCGA-R6-A6L4-01A-11D-A31U-09	TCGA-R6-A6L4-10A-01D-A31U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	73e30098-463c-4d83-b6f7-dcc43fad6592	3fc2bd45-8cf9-420d-b900-a0fee703731d	g.chr6:29638637A>C	ENST00000376917.3	+	7	959				MOG_ENST00000396701.2_Intron|MOG_ENST00000376894.4_Missense_Mutation_p.K290T|MOG_ENST00000490427.1_Intron|MOG_ENST00000376891.4_Intron|MOG_ENST00000494692.1_Intron|MOG_ENST00000376898.3_Intron|MOG_ENST00000416766.2_Intron|MOG_ENST00000431798.2_Intron|MOG_ENST00000483013.1_Intron|MOG_ENST00000533330.2_Intron|MOG_ENST00000396704.3_Intron|MOG_ENST00000376888.2_Intron|MOG_ENST00000376902.3_Intron	NM_002433.4|NM_206809.3	NP_002424.3|NP_996532.2	Q16653	MOG_HUMAN	myelin oligodendrocyte glycoprotein						cell adhesion (GO:0007155)|central nervous system development (GO:0007417)|positive regulation of MyD88-dependent toll-like receptor signaling pathway (GO:0034126)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(8)|ovary(1)|skin(2)	19						GGTGGAGGGAAGACTCCTCCT	0.552																																																	0																																										SO:0001627	intron_variant	0				CCDS4667.1, CCDS34366.1, CCDS34367.1, CCDS34368.1, CCDS34369.1, CCDS34370.1, CCDS47394.1, CCDS47395.1, CCDS47395.2, CCDS54977.1	6p22.1	2014-01-16			ENSG00000204655	ENSG00000204655		"""Immunoglobulin superfamily / V-set domain containing"", ""Butyrophilins"""	7197	protein-coding gene	gene with protein product		159465					Standard	NM_002433		Approved	BTN6, BTNL11	uc003nne.3	Q16653	OTTHUMG00000031099	ENST00000376917.3:c.730+139A>C	6.37:g.29638637A>C			A6NDR4|A6NNJ9|A8MY31|B0UZR9|E9PGF0|F8W9D5|O00713|O00714|O00715|Q13054|Q13055|Q14855|Q29ZN8|Q56UY0|Q5JNX7|Q5JNY1|Q5JNY2|Q5JNY4|Q5SSB5|Q5SSB6|Q5STL9|Q5STM0|Q5STM1|Q5STM2|Q5STM5|Q5SUK5|Q5SUK7|Q5SUK8|Q5SUK9|Q5SUL0|Q5SUL1|Q8IYG5|Q92891|Q92892|Q92893|Q92894|Q92895|Q93053|Q96KU9|Q96KV0|Q96KV1|Q99605	Missense_Mutation	SNP	pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like_dom	p.K290T	ENST00000376917.3	37	c.869	CCDS34370.1	6	.	.	.	.	.	.	.	.	.	.	A	7.796	0.712541	0.15306	.	.	ENSG00000204655	ENST00000376894	T	0.07567	3.18	2.71	-3.65	0.04502	.	.	.	.	.	T	0.00906	0.0030	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.48801	-0.9003	7	.	.	.	.	0.6299	0.00793	0.4023:0.1749:0.246:0.1769	.	290	Q5SUK5	.	T	290	ENSP00000366091:K290T	.	K	+	2	0	MOG	29746616	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.280000	0.01158	-0.882000	0.03987	-1.524000	0.00929	AAG	MOG	-	NULL	ENSG00000204655		0.552	MOG-001	KNOWN	basic|CCDS	protein_coding	MOG	HGNC	protein_coding	OTTHUMT00000076160.3		0.00	12	0	A	NM_002433		29638637	+1			no_errors	ENST00000376894	ensembl	human	putative	74_37	missense	40.00	12	8	SNP	0.000	C
MOXD2P	100289017	genome.wustl.edu	37	7	141942718	141942718	+	RNA	SNP	C	C	T			TCGA-R6-A6L4-01A-11D-A31U-09	TCGA-R6-A6L4-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	73e30098-463c-4d83-b6f7-dcc43fad6592	3fc2bd45-8cf9-420d-b900-a0fee703731d	g.chr7:141942718C>T	ENST00000477615.1	-	0	343							A6NHM9	MOXD2_HUMAN	monooxygenase, DBH-like 2, pseudogene								copper ion binding (GO:0005507)|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)										GCACTGCTTGCAGAGCCCGTC	0.473																																																	0																																												0					7q34	2010-09-24	2010-09-24	2010-09-24	ENSG00000240268	ENSG00000240268			33605	pseudogene	pseudogene			"""monooxygenase, DBH-like 2 pseudogene"""	MOXD2			Standard	NR_024346		Approved		uc022amw.1	A6NHM9	OTTHUMG00000158566		7.37:g.141942718C>T				RNA	SNP	-	NULL	ENST00000477615.1	37	NULL		7																																																																																			MOXD2P	-	-	ENSG00000240268		0.473	MOXD2P-002	KNOWN	basic	processed_transcript	MOXD2P	HGNC	pseudogene	OTTHUMT00000351330.2		0.00	43	0	C	NR_024346		141942718	-1			no_errors	ENST00000477615	ensembl	human	known	74_37	rna	23.08	10	3	SNP	0.284	T
MSTN	2660	genome.wustl.edu	37	2	190924966	190924966	+	Missense_Mutation	SNP	C	C	T			TCGA-R6-A6L4-01A-11D-A31U-09	TCGA-R6-A6L4-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	73e30098-463c-4d83-b6f7-dcc43fad6592	3fc2bd45-8cf9-420d-b900-a0fee703731d	g.chr2:190924966C>T	ENST00000260950.4	-	2	701	c.569G>A	c.(568-570)cGa>cAa	p.R190Q	C2orf88_ENST00000478197.1_Intron	NM_005259.2	NP_005250.1	O14793	GDF8_HUMAN	myostatin	190					cellular response to dexamethasone stimulus (GO:0071549)|muscle organ development (GO:0007517)|negative regulation of muscle hypertrophy (GO:0014741)|negative regulation of skeletal muscle tissue growth (GO:0048632)|ovulation cycle process (GO:0022602)|positive regulation of transcription, DNA-templated (GO:0045893)|response to electrical stimulus (GO:0051602)|response to estrogen (GO:0043627)|response to ethanol (GO:0045471)|response to gravity (GO:0009629)|response to heat (GO:0009408)|response to muscle activity (GO:0014850)|response to testosterone (GO:0033574)|skeletal muscle atrophy (GO:0014732)|skeletal muscle tissue regeneration (GO:0043403)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	growth factor activity (GO:0008083)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|receptor binding (GO:0005102)			endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|skin(1)	12			OV - Ovarian serous cystadenocarcinoma(117;0.000742)|Epithelial(96;0.0121)|all cancers(119;0.0395)			TTTCAGAGATCGGATTCCAGT	0.428																																																	0													197.0	184.0	188.0					2																	190924966		2203	4300	6503	SO:0001583	missense	0			AF019627	CCDS2303.1	2q32.1	2014-09-17	2007-06-21	2007-06-21	ENSG00000138379	ENSG00000138379			4223	protein-coding gene	gene with protein product		601788	"""growth differentiation factor 8"""	GDF8		9288100, 10610713, 17003236	Standard	NM_005259		Approved		uc002urp.3	O14793	OTTHUMG00000132663	ENST00000260950.4:c.569G>A	2.37:g.190924966C>T	ENSP00000260950:p.Arg190Gln		A1C2J7|A1C2K0|Q6B0H2	Missense_Mutation	SNP	pfam_TGF-b_N,pfam_TGF-b_C,smart_TGF-b_C	p.R190Q	ENST00000260950.4	37	c.569	CCDS2303.1	2	.	.	.	.	.	.	.	.	.	.	C	19.96	3.923567	0.73213	.	.	ENSG00000138379	ENST00000260950	T	0.70282	-0.47	5.76	5.76	0.90799	Transforming growth factor-beta, N-terminal (1);	0.060128	0.64402	D	0.000003	T	0.71099	0.3300	M	0.64080	1.96	0.80722	D	1	B	0.33135	0.399	B	0.31751	0.135	T	0.71334	-0.4624	10	0.54805	T	0.06	-6.1684	19.9636	0.97259	0.0:1.0:0.0:0.0	.	190	O14793	GDF8_HUMAN	Q	190	ENSP00000260950:R190Q	ENSP00000260950:R190Q	R	-	2	0	MSTN	190633211	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.089000	0.71384	2.718000	0.92993	0.650000	0.86243	CGA	MSTN	-	pfam_TGF-b_N	ENSG00000138379		0.428	MSTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MSTN	HGNC	protein_coding	OTTHUMT00000255917.2		0.00	62	0	C	NM_005259		190924966	-1			no_errors	ENST00000260950	ensembl	human	known	74_37	missense	5.88	32	2	SNP	1.000	T
NCAPG	64151	genome.wustl.edu	37	4	17839316	17839316	+	Silent	SNP	A	A	T	rs543017291		TCGA-R6-A6L4-01A-11D-A31U-09	TCGA-R6-A6L4-10A-01D-A31U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	73e30098-463c-4d83-b6f7-dcc43fad6592	3fc2bd45-8cf9-420d-b900-a0fee703731d	g.chr4:17839316A>T	ENST00000251496.2	+	16	2534	c.2358A>T	c.(2356-2358)gcA>gcT	p.A786A		NM_022346.4	NP_071741.2	Q9BPX3	CND3_HUMAN	non-SMC condensin I complex, subunit G	786					mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)	actin cytoskeleton (GO:0015629)|centrosome (GO:0005813)|condensin complex (GO:0000796)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(11)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	27				STAD - Stomach adenocarcinoma(129;0.18)		ATGCCCCTGCATCTTCTCCTT	0.408																																																	0													169.0	167.0	168.0					4																	17839316		2203	4300	6503	SO:0001819	synonymous_variant	0			AF331796	CCDS3424.1	4p15.32	2014-01-15			ENSG00000109805	ENSG00000109805			24304	protein-coding gene	gene with protein product	"""chromosome condensation protein G"""	606280				10910072, 11136719	Standard	NM_022346		Approved	FLJ12450, hCAP-G, CAP-G, YCG1	uc003gpp.4	Q9BPX3	OTTHUMG00000128539	ENST00000251496.2:c.2358A>T	4.37:g.17839316A>T			Q3MJE0|Q96SV9|Q9BUR3|Q9BVY1|Q9H914|Q9H9Z6|Q9HBI9	Silent	SNP	superfamily_ARM-type_fold	p.A786	ENST00000251496.2	37	c.2358	CCDS3424.1	4																																																																																			NCAPG	-	superfamily_ARM-type_fold	ENSG00000109805		0.408	NCAPG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NCAPG	HGNC	protein_coding	OTTHUMT00000250375.1		0.00	53	0	A	NM_022346		17839316	+1			no_errors	ENST00000251496	ensembl	human	known	74_37	silent	50.00	7	7	SNP	0.918	T
NCAPG	64151	genome.wustl.edu	37	4	17839318	17839318	+	Missense_Mutation	SNP	C	C	T			TCGA-R6-A6L4-01A-11D-A31U-09	TCGA-R6-A6L4-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	73e30098-463c-4d83-b6f7-dcc43fad6592	3fc2bd45-8cf9-420d-b900-a0fee703731d	g.chr4:17839318C>T	ENST00000251496.2	+	16	2536	c.2360C>T	c.(2359-2361)tCt>tTt	p.S787F		NM_022346.4	NP_071741.2	Q9BPX3	CND3_HUMAN	non-SMC condensin I complex, subunit G	787					mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)	actin cytoskeleton (GO:0015629)|centrosome (GO:0005813)|condensin complex (GO:0000796)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(11)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	27				STAD - Stomach adenocarcinoma(129;0.18)		GCCCCTGCATCTTCTCCTTTA	0.403																																																	0													169.0	167.0	168.0					4																	17839318		2203	4300	6503	SO:0001583	missense	0			AF331796	CCDS3424.1	4p15.32	2014-01-15			ENSG00000109805	ENSG00000109805			24304	protein-coding gene	gene with protein product	"""chromosome condensation protein G"""	606280				10910072, 11136719	Standard	NM_022346		Approved	FLJ12450, hCAP-G, CAP-G, YCG1	uc003gpp.4	Q9BPX3	OTTHUMG00000128539	ENST00000251496.2:c.2360C>T	4.37:g.17839318C>T	ENSP00000251496:p.Ser787Phe		Q3MJE0|Q96SV9|Q9BUR3|Q9BVY1|Q9H914|Q9H9Z6|Q9HBI9	Missense_Mutation	SNP	superfamily_ARM-type_fold	p.S787F	ENST00000251496.2	37	c.2360	CCDS3424.1	4	.	.	.	.	.	.	.	.	.	.	C	22.5	4.291723	0.80914	.	.	ENSG00000109805	ENST00000251496	T	0.44881	0.91	5.25	5.25	0.73442	Armadillo-type fold (1);	0.098536	0.64402	D	0.000002	T	0.61837	0.2379	M	0.68952	2.095	0.47037	D	0.999291	D	0.76494	0.999	D	0.71870	0.975	T	0.64334	-0.6432	10	0.72032	D	0.01	-13.7353	14.7709	0.69679	0.0:0.8558:0.1442:0.0	.	787	Q9BPX3	CND3_HUMAN	F	787	ENSP00000251496:S787F	ENSP00000251496:S787F	S	+	2	0	NCAPG	17448416	0.927000	0.31430	0.993000	0.49108	0.994000	0.84299	4.097000	0.57741	2.601000	0.87937	0.591000	0.81541	TCT	NCAPG	-	superfamily_ARM-type_fold	ENSG00000109805		0.403	NCAPG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NCAPG	HGNC	protein_coding	OTTHUMT00000250375.1		0.00	54	0	C	NM_022346		17839318	+1			no_errors	ENST00000251496	ensembl	human	known	74_37	missense	50.00	7	7	SNP	1.000	T
NEURL4	84461	genome.wustl.edu	37	17	7224748	7224748	+	Missense_Mutation	SNP	C	C	T			TCGA-R6-A6L4-01A-11D-A31U-09	TCGA-R6-A6L4-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	73e30098-463c-4d83-b6f7-dcc43fad6592	3fc2bd45-8cf9-420d-b900-a0fee703731d	g.chr17:7224748C>T	ENST00000399464.2	-	19	3145	c.3130G>A	c.(3130-3132)Gca>Aca	p.A1044T	NEURL4_ENST00000570460.1_Missense_Mutation_p.A1020T|NEURL4_ENST00000315614.7_Missense_Mutation_p.A1042T|NEURL4_ENST00000574120.1_5'Flank|RP11-542C16.2_ENST00000575474.1_5'Flank	NM_032442.2	NP_115818.2	Q96JN8	NEUL4_HUMAN	neuralized E3 ubiquitin protein ligase 4	1044	NHR 5. {ECO:0000255|PROSITE- ProRule:PRU00400}.					cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						GTGTCATCTGCCCCCCGACGA	0.617																																																	0													100.0	109.0	106.0					17																	7224748		2142	4233	6375	SO:0001583	missense	0				CCDS42251.1, CCDS42252.1	17p13	2013-10-24	2013-10-24		ENSG00000215041	ENSG00000215041			34410	protein-coding gene	gene with protein product		615865	"""neuralized homolog 4 (Drosophila)"""			22261722, 22441691	Standard	NM_001005408		Approved	KIAA1787	uc002gga.1	Q96JN8	OTTHUMG00000132319	ENST00000399464.2:c.3130G>A	17.37:g.7224748C>T	ENSP00000382390:p.Ala1044Thr		Q6GPI8|Q96IU9|Q9H0B0	Missense_Mutation	SNP	pfam_Neu_Z,superfamily_ConA-like_lec_gl_sf,smart_Neu_Z,pfscan_Neu_Z	p.A1044T	ENST00000399464.2	37	c.3130	CCDS42251.1	17	.	.	.	.	.	.	.	.	.	.	C	10.57	1.387533	0.25031	.	.	ENSG00000215041	ENST00000315614;ENST00000399464	T;T	0.29917	1.56;1.55	5.14	3.12	0.35913	NEUZ (1);	0.367706	0.27715	N	0.018158	T	0.16342	0.0393	N	0.19112	0.55	0.30331	N	0.786698	B;B	0.24426	0.103;0.063	B;B	0.22386	0.039;0.017	T	0.15464	-1.0436	10	0.17369	T	0.5	-6.4658	7.6331	0.28251	0.0:0.7296:0.0:0.2704	.	1042;1044	Q96JN8-2;Q96JN8	.;NEUL4_HUMAN	T	1042;1044	ENSP00000319826:A1042T;ENSP00000382390:A1044T	ENSP00000319826:A1042T	A	-	1	0	NEURL4	7165472	0.427000	0.25514	0.990000	0.47175	0.989000	0.77384	0.520000	0.22878	1.133000	0.42147	0.563000	0.77884	GCA	NEURL4	-	pfscan_Neu_Z	ENSG00000215041		0.617	NEURL4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NEURL4	HGNC	protein_coding	OTTHUMT00000255434.2		0.00	23	0	C	NM_032442		7224748	-1			no_errors	ENST00000399464	ensembl	human	known	74_37	missense	16.67	20	4	SNP	0.993	T
NF1	4763	genome.wustl.edu	37	17	29559830	29559830	+	Missense_Mutation	SNP	C	C	T			TCGA-R6-A6L4-01A-11D-A31U-09	TCGA-R6-A6L4-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	73e30098-463c-4d83-b6f7-dcc43fad6592	3fc2bd45-8cf9-420d-b900-a0fee703731d	g.chr17:29559830C>T	ENST00000358273.4	+	26	3810	c.3427C>T	c.(3427-3429)Cac>Tac	p.H1143Y	NF1_ENST00000356175.3_Missense_Mutation_p.H1143Y	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	1143					actin cytoskeleton organization (GO:0030036)|adrenal gland development (GO:0030325)|artery morphogenesis (GO:0048844)|brain development (GO:0007420)|camera-type eye morphogenesis (GO:0048593)|cell communication (GO:0007154)|cerebral cortex development (GO:0021987)|cognition (GO:0050890)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|forebrain astrocyte development (GO:0021897)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|liver development (GO:0001889)|MAPK cascade (GO:0000165)|metanephros development (GO:0001656)|myelination in peripheral nervous system (GO:0022011)|negative regulation of angiogenesis (GO:0016525)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell migration (GO:0030336)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of neurotransmitter secretion (GO:0046929)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of transcription factor import into nucleus (GO:0042992)|neural tube development (GO:0021915)|osteoblast differentiation (GO:0001649)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|pigmentation (GO:0043473)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of bone resorption (GO:0045124)|regulation of cell-matrix adhesion (GO:0001952)|regulation of glial cell differentiation (GO:0045685)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of Ras GTPase activity (GO:0032318)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to hypoxia (GO:0001666)|Schwann cell development (GO:0014044)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|spinal cord development (GO:0021510)|sympathetic nervous system development (GO:0048485)|visual learning (GO:0008542)|wound healing (GO:0042060)	axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane (GO:0016020)|nucleus (GO:0005634)	phosphatidylcholine binding (GO:0031210)|phosphatidylethanolamine binding (GO:0008429)|Ras GTPase activator activity (GO:0005099)	p.0?(8)|p.?(4)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		ATCACTGAGGCACTGTACGGT	0.443			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)																													yes	Rec	yes	Neurofibromatosis type 1	17	17q12	4763	neurofibromatosis type 1 gene		O	12	Whole gene deletion(8)|Unknown(4)	soft_tissue(7)|autonomic_ganglia(2)|central_nervous_system(2)|lung(1)	GRCh37	CS031791	NF1	S							118.0	97.0	104.0					17																	29559830		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database	NF1, von Recklinghausen disease, incl.: Hereditary Spinal Neurofibromatosis, Neurofibromatosis-Noonan syndrome		CCDS11264.1, CCDS42292.1, CCDS45645.1	17q11.2	2014-09-17	2008-07-31		ENSG00000196712	ENSG00000196712			7765	protein-coding gene	gene with protein product	"""neurofibromatosis"", ""von Recklinghausen disease"", ""Watson disease"""	613113				1715669	Standard	NM_000267		Approved		uc002hgg.3	P21359	OTTHUMG00000132871	ENST00000358273.4:c.3427C>T	17.37:g.29559830C>T	ENSP00000351015:p.His1143Tyr		O00662|Q14284|Q14930|Q14931|Q9UMK3	Missense_Mutation	SNP	pfam_RasGAP,superfamily_Rho_GTPase_activation_prot,superfamily_ARM-type_fold,superfamily_CRAL-TRIO_dom,smart_RasGAP,smart_CRAL-TRIO_dom,pfscan_CRAL-TRIO_dom,pfscan_RasGAP	p.H1143Y	ENST00000358273.4	37	c.3427	CCDS42292.1	17	.	.	.	.	.	.	.	.	.	.	C	29.9	5.045573	0.93685	.	.	ENSG00000196712	ENST00000358273;ENST00000356175;ENST00000456735	T;T;T	0.08984	3.2;3.34;3.03	5.55	5.55	0.83447	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.14141	0.0342	N	0.08118	0	0.80722	D	1	D;P;P;P	0.53151	0.958;0.687;0.908;0.937	P;B;D;P	0.64144	0.558;0.173;0.922;0.579	T	0.33163	-0.9879	10	0.72032	D	0.01	.	19.4952	0.95069	0.0:1.0:0.0:0.0	.	1143;193;1143;1143	E1P657;Q59FX3;P21359-2;P21359	.;.;.;NF1_HUMAN	Y	1143;1143;809	ENSP00000351015:H1143Y;ENSP00000348498:H1143Y;ENSP00000389907:H809Y	ENSP00000348498:H1143Y	H	+	1	0	NF1	26583956	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.434000	0.80377	2.612000	0.88384	0.555000	0.69702	CAC	NF1	-	superfamily_ARM-type_fold	ENSG00000196712		0.443	NF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NF1	HGNC	protein_coding	OTTHUMT00000256351.2		0.00	52	0	C	NM_000267		29559830	+1			no_errors	ENST00000358273	ensembl	human	known	74_37	missense	29.55	31	13	SNP	1.000	T
NOD2	64127	genome.wustl.edu	37	16	50733865	50733865	+	Splice_Site	SNP	G	G	A			TCGA-R6-A6L4-01A-11D-A31U-09	TCGA-R6-A6L4-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	73e30098-463c-4d83-b6f7-dcc43fad6592	3fc2bd45-8cf9-420d-b900-a0fee703731d	g.chr16:50733865G>A	ENST00000300589.2	+	2	645	c.540G>A	c.(538-540)agG>agA	p.R180R	NOD2_ENST00000526417.2_3'UTR	NM_022162.1	NP_071445.1	Q9HC29	NOD2_HUMAN	nucleotide-binding oligomerization domain containing 2	180	CARD 2. {ECO:0000255|PROSITE- ProRule:PRU00046}.				activation of MAPK activity (GO:0000187)|activation of MAPK activity involved in innate immune response (GO:0035419)|cellular response to muramyl dipeptide (GO:0071225)|cellular response to peptidoglycan (GO:0071224)|cytokine production involved in immune response (GO:0002367)|defense response (GO:0006952)|defense response to bacterium (GO:0042742)|defense response to Gram-positive bacterium (GO:0050830)|detection of bacterium (GO:0016045)|detection of biotic stimulus (GO:0009595)|detection of muramyl dipeptide (GO:0032498)|immunoglobulin production involved in immunoglobulin mediated immune response (GO:0002381)|innate immune response (GO:0045087)|innate immune response in mucosa (GO:0002227)|intracellular signal transduction (GO:0035556)|JNK cascade (GO:0007254)|macrophage inflammatory protein-1 alpha production (GO:0071608)|maintenance of gastrointestinal epithelium (GO:0030277)|microglial cell activation involved in immune response (GO:0002282)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of growth of symbiont in host (GO:0044130)|negative regulation of inflammatory response to antigenic stimulus (GO:0002862)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of interleukin-18 production (GO:0032701)|negative regulation of interleukin-2 production (GO:0032703)|negative regulation of macrophage apoptotic process (GO:2000110)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of T cell mediated immunity (GO:0002710)|negative regulation of toll-like receptor 2 signaling pathway (GO:0034136)|negative regulation of tumor necrosis factor production (GO:0032720)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing 2 signaling pathway (GO:0070431)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of B cell activation (GO:0050871)|positive regulation of biosynthetic process of antibacterial peptides active against Gram-positive bacteria (GO:0006965)|positive regulation of dendritic cell antigen processing and presentation (GO:0002606)|positive regulation of dendritic cell cytokine production (GO:0002732)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gamma-delta T cell activation (GO:0046645)|positive regulation of humoral immune response mediated by circulating immunoglobulin (GO:0002925)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-1 beta production (GO:0032731)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of interleukin-10 production (GO:0032733)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-17 production (GO:0032740)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of JNK cascade (GO:0046330)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of oxidoreductase activity (GO:0051353)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phagocytosis (GO:0050766)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of prostaglandin-E synthase activity (GO:2000363)|positive regulation of prostaglandin-endoperoxide synthase activity (GO:0060585)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of stress-activated MAPK cascade (GO:0032874)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of type 2 immune response (GO:0002830)|protein oligomerization (GO:0051259)|regulation of inflammatory response (GO:0050727)|regulation of neutrophil chemotaxis (GO:0090022)|response to exogenous dsRNA (GO:0043330)|response to lipopolysaccharide (GO:0032496)|response to muramyl dipeptide (GO:0032495)|response to nutrient (GO:0007584)|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)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|vesicle (GO:0031982)	ATP binding (GO:0005524)|CARD domain binding (GO:0050700)|enzyme binding (GO:0019899)|muramyl dipeptide binding (GO:0032500)|peptidoglycan binding (GO:0042834)|protein kinase binding (GO:0019901)			cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(30)|ovary(3)|skin(3)	52		all_cancers(37;0.0156)				CGTCCCAGAGGGTGAGGCACT	0.537																																																	0													62.0	51.0	55.0					16																	50733865		2198	4300	6498	SO:0001630	splice_region_variant	0			AF178930	CCDS10746.1	16q12	2014-09-17	2006-12-08	2006-12-08	ENSG00000167207	ENSG00000167207		"""Nucleotide-binding domain and leucine rich repeat containing"""	5331	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 2"", ""NOD-like receptor C2"", ""NLR family, CARD domain containing 2"""	605956	"""caspase recruitment domain family, member 15"""	IBD1, CARD15		7809109, 8587604	Standard	XM_005256084		Approved	BLAU, CD, PSORAS1, CLR16.3, NLRC2	uc002egm.1	Q9HC29	OTTHUMG00000133171	ENST00000300589.2:c.540+1G>A	16.37:g.50733865G>A			E2JEQ6|Q96RH5|Q96RH6|Q96RH8	Silent	SNP	pfam_CARD,superfamily_DEATH-like_dom,superfamily_P-loop_NTPase,smart_Leu-rich_rpt_RNase_inh_sub-typ,pfscan_NACHT_NTPase,pfscan_CARD	p.R180	ENST00000300589.2	37	c.540	CCDS10746.1	16																																																																																			NOD2	-	pfam_CARD,superfamily_DEATH-like_dom,pfscan_CARD	ENSG00000167207		0.537	NOD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOD2	HGNC	protein_coding	OTTHUMT00000256876.2		0.00	38	0	G	NM_022162	Silent	50733865	+1			no_errors	ENST00000300589	ensembl	human	known	74_37	silent	47.62	11	10	SNP	1.000	A
NOL8	55035	genome.wustl.edu	37	9	95076606	95076606	+	Silent	SNP	C	C	T			TCGA-R6-A6L4-01A-11D-A31U-09	TCGA-R6-A6L4-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	73e30098-463c-4d83-b6f7-dcc43fad6592	3fc2bd45-8cf9-420d-b900-a0fee703731d	g.chr9:95076606C>T	ENST00000535387.1	-	6	2300	c.2301G>A	c.(2299-2301)gcG>gcA	p.A767A	NOL8_ENST00000542053.1_Silent_p.A699A|NOL8_ENST00000358855.4_Silent_p.A699A|NOL8_ENST00000442668.2_Silent_p.A767A|NOL8_ENST00000545558.1_Silent_p.A767A					nucleolar protein 8											endometrium(3)|kidney(2)|large_intestine(5)|lung(5)|ovary(1)	16						CTTTTTGCCTCGCTTCCAAGG	0.383																																																	0													90.0	84.0	86.0					9																	95076606		1955	4156	6111	SO:0001819	synonymous_variant	0			AB109030	CCDS47993.1, CCDS59135.1	9q22.32	2013-02-12	2004-01-12	2004-01-14	ENSG00000198000	ENSG00000198000		"""RNA binding motif (RRM) containing"""	23387	protein-coding gene	gene with protein product		611534	"""chromosome 9 open reading frame 34"""	C9orf34		12477932	Standard	NM_017948		Approved	FLJ20736, Nop132	uc022bjx.1	Q76FK4	OTTHUMG00000020221	ENST00000535387.1:c.2301G>A	9.37:g.95076606C>T				Silent	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.A767	ENST00000535387.1	37	c.2301	CCDS47993.1	9																																																																																			NOL8	-	NULL	ENSG00000198000		0.383	NOL8-010	NOVEL	basic|exp_conf|CCDS	protein_coding	NOL8	HGNC	protein_coding	OTTHUMT00000053082.2		0.00	27	0	C	NM_017948		95076606	-1			no_errors	ENST00000442668	ensembl	human	known	74_37	silent	22.22	21	6	SNP	0.998	T
NOTCH4	4855	genome.wustl.edu	37	6	32168965	32168965	+	Missense_Mutation	SNP	G	G	T			TCGA-R6-A6L4-01A-11D-A31U-09	TCGA-R6-A6L4-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	73e30098-463c-4d83-b6f7-dcc43fad6592	3fc2bd45-8cf9-420d-b900-a0fee703731d	g.chr6:32168965G>T	ENST00000375023.3	-	22	4206	c.4068C>A	c.(4066-4068)gaC>gaA	p.D1356E		NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN	notch 4	1356					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)			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						GATAGGTGGGGTCCCGAGTTC	0.607																																																	0													63.0	72.0	69.0					6																	32168965		1507	2709	4216	SO:0001583	missense	0				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.4068C>A	6.37:g.32168965G>T	ENSP00000364163:p.Asp1356Glu		B0V183|B0V1X5|O00306|Q5SSY7|Q99458|Q99940|Q9H3S8|Q9UII9|Q9UIJ0	Missense_Mutation	SNP	pirsf_Notch,pfam_EG-like_dom,pfam_Ankyrin_rpt,pfam_EGF-like_Ca-bd_dom,pfam_Notch_dom,pfam_Notch_NODP_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_Notch_dom,smart_EG-like_dom,smart_EGF-like_Ca-bd_dom,smart_Notch_dom,smart_Ankyrin_rpt,prints_Notch_4,prints_Notch_dom,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_EG-like_dom,pfscan_Notch_dom	p.D1356E	ENST00000375023.3	37	c.4068	CCDS34420.1	6	.	.	.	.	.	.	.	.	.	.	G	1.992	-0.431565	0.04669	.	.	ENSG00000204301	ENST00000375023	T	0.81078	-1.45	4.37	1.46	0.22682	.	0.560185	0.14707	N	0.303209	T	0.34106	0.0886	N	0.24115	0.695	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.18840	-1.0324	10	0.08381	T	0.77	.	1.1518	0.01787	0.2077:0.1752:0.4376:0.1795	.	1356;1355	Q99466;B0S882	NOTC4_HUMAN;.	E	1356	ENSP00000364163:D1356E	ENSP00000364163:D1356E	D	-	3	2	NOTCH4	32276943	0.002000	0.14202	0.003000	0.11579	0.552000	0.35366	-0.216000	0.09266	0.106000	0.17784	0.456000	0.33151	GAC	NOTCH4	-	pirsf_Notch,prints_Notch_4	ENSG00000204301		0.607	NOTCH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NOTCH4	HGNC	protein_coding	OTTHUMT00000076045.2		0.00	44	0	G			32168965	-1			no_errors	ENST00000375023	ensembl	human	known	74_37	missense	29.73	26	11	SNP	0.000	T
NR1D1	9572	genome.wustl.edu	37	17	38251254	38251254	+	Silent	SNP	G	G	A			TCGA-R6-A6L4-01A-11D-A31U-09	TCGA-R6-A6L4-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	73e30098-463c-4d83-b6f7-dcc43fad6592	3fc2bd45-8cf9-420d-b900-a0fee703731d	g.chr17:38251254G>A	ENST00000246672.3	-	6	1998	c.1368C>T	c.(1366-1368)caC>caT	p.H456H		NM_021724.3	NP_068370.1	P20393	NR1D1_HUMAN	nuclear receptor subfamily 1, group D, member 1	456	Ligand-binding.				cell differentiation (GO:0030154)|cellular response to lipopolysaccharide (GO:0071222)|circadian regulation of gene expression (GO:0032922)|circadian temperature homeostasis (GO:0060086)|gene expression (GO:0010467)|glycogen biosynthetic process (GO:0005978)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of receptor biosynthetic process (GO:0010871)|negative regulation of toll-like receptor 4 signaling pathway (GO:0034144)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of bile acid biosynthetic process (GO:0070859)|positive regulation of transcription, DNA-templated (GO:0045893)|proteasomal protein catabolic process (GO:0010498)|regulation of cholesterol homeostasis (GO:2000188)|regulation of circadian rhythm (GO:0042752)|regulation of fat cell differentiation (GO:0045598)|regulation of gluconeogenesis by regulation of transcription from RNA polymerase II promoter (GO:0035947)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|regulation of lipid metabolic process (GO:0019216)|regulation of type B pancreatic cell proliferation (GO:0061469)|response to leptin (GO:0044321)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|heme binding (GO:0020037)|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 negative regulation of transcription (GO:0001078)|steroid hormone receptor activity (GO:0003707)|transcription corepressor activity (GO:0003714)|transcription corepressor binding (GO:0001222)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(5)|lung(2)|skin(1)|upper_aerodigestive_tract(2)	11	Colorectal(19;0.000442)					AGCCCGGGATGTGTTTGGCAA	0.552																																																	0													88.0	72.0	77.0					17																	38251254		2203	4300	6503	SO:0001819	synonymous_variant	0			X72631	CCDS11361.1	17q11.2	2013-01-16			ENSG00000126368	ENSG00000126368		"""Nuclear hormone receptors"""	7962	protein-coding gene	gene with protein product		602408		THRAL		1971514	Standard	NM_021724		Approved	ear-1, hRev, Rev-ErbAalpha, THRA1	uc002htz.3	P20393	OTTHUMG00000133327	ENST00000246672.3:c.1368C>T	17.37:g.38251254G>A			Q0P5Z4|Q15304	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_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt	p.H456	ENST00000246672.3	37	c.1368	CCDS11361.1	17																																																																																			NR1D1	-	superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Nucl_hrmn_rcpt_lig-bd_core,prints_Str_hrmn_rcpt	ENSG00000126368		0.552	NR1D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NR1D1	HGNC	protein_coding	OTTHUMT00000257135.1		0.00	69	0	G			38251254	-1			no_errors	ENST00000246672	ensembl	human	known	74_37	silent	18.75	26	6	SNP	1.000	A
NRG3	10718	genome.wustl.edu	37	10	84745257	84745257	+	Missense_Mutation	SNP	G	G	A			TCGA-R6-A6L4-01A-11D-A31U-09	TCGA-R6-A6L4-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	73e30098-463c-4d83-b6f7-dcc43fad6592	3fc2bd45-8cf9-420d-b900-a0fee703731d	g.chr10:84745257G>A	ENST00000404547.1	+	10	2059	c.2059G>A	c.(2059-2061)Gaa>Aaa	p.E687K	NRG3_ENST00000545131.1_Missense_Mutation_p.E313K|NRG3_ENST00000556918.1_Missense_Mutation_p.E493K|NRG3_ENST00000404576.2_Missense_Mutation_p.E467K|NRG3_ENST00000372142.2_Missense_Mutation_p.E466K|NRG3_ENST00000537893.1_Missense_Mutation_p.E313K|NRG3_ENST00000372141.2_Missense_Mutation_p.E663K			P56975	NRG3_HUMAN	neuregulin 3	687					activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|intracellular signal transduction (GO:0035556)|mammary placode formation (GO:0060596)|pattern specification process (GO:0007389)|regulation of cell growth (GO:0001558)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	growth factor activity (GO:0008083)|receptor tyrosine kinase binding (GO:0030971)|transmembrane receptor protein tyrosine kinase activator activity (GO:0030297)			breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(41)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	69				GBM - Glioblastoma multiforme(1;2.5e-18)|all cancers(1;2.85e-09)		CAGTGCAAGCGAAAACACAGC	0.483																																																	0													78.0	72.0	74.0					10																	84745257		2203	4300	6503	SO:0001583	missense	0			AK098823	CCDS31233.1, CCDS53547.1	10q22-q23	2003-09-09			ENSG00000185737	ENSG00000185737			7999	protein-coding gene	gene with protein product		605533				9275162	Standard	NM_001010848		Approved		uc001kco.2	P56975	OTTHUMG00000018626	ENST00000404547.1:c.2059G>A	10.37:g.84745257G>A	ENSP00000384796:p.Glu687Lys		A4D7U1|Q0PEH2|Q5VYH3	Missense_Mutation	SNP	pfscan_EG-like_dom	p.E687K	ENST00000404547.1	37	c.2059	CCDS31233.1	10	.	.	.	.	.	.	.	.	.	.	G	20.8	4.054466	0.75960	.	.	ENSG00000185737	ENST00000372141;ENST00000404547;ENST00000537287;ENST00000372142;ENST00000404576;ENST00000556918;ENST00000545131;ENST00000537893	T;T;T;T;T;T;T	0.52295	1.29;1.19;1.21;0.67;1.24;0.75;0.75	5.54	5.54	0.83059	.	0.000000	0.64402	D	0.000002	T	0.64394	0.2594	L	0.50333	1.59	0.52099	D	0.999947	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.79108	0.992;0.992;0.992;0.992	T	0.65948	-0.6044	10	0.87932	D	0	-13.4813	16.9886	0.86347	0.0:0.0:1.0:0.0	.	662;687;466;663	B9EGV5;P56975;P56975-3;P56975-4	.;NRG3_HUMAN;.;.	K	663;687;662;466;467;493;313;313	ENSP00000361214:E663K;ENSP00000384796:E687K;ENSP00000361215:E466K;ENSP00000385804:E467K;ENSP00000451376:E493K;ENSP00000441201:E313K;ENSP00000440377:E313K	ENSP00000361214:E663K	E	+	1	0	NRG3	84735237	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.978000	0.63799	2.615000	0.88500	0.655000	0.94253	GAA	NRG3	-	NULL	ENSG00000185737		0.483	NRG3-005	KNOWN	basic|CCDS	protein_coding	NRG3	HGNC	protein_coding	OTTHUMT00000412262.1		0.00	65	0	G	XM_166086		84745257	+1			no_errors	ENST00000404547	ensembl	human	known	74_37	missense	41.67	14	10	SNP	1.000	A
OPRL1	4987	genome.wustl.edu	37	20	62729634	62729634	+	Missense_Mutation	SNP	G	G	A			TCGA-R6-A6L4-01A-11D-A31U-09	TCGA-R6-A6L4-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	73e30098-463c-4d83-b6f7-dcc43fad6592	3fc2bd45-8cf9-420d-b900-a0fee703731d	g.chr20:62729634G>A	ENST00000349451.3	+	6	1007	c.595G>A	c.(595-597)Gag>Aag	p.E199K	OPRL1_ENST00000355631.4_Missense_Mutation_p.E199K|OPRL1_ENST00000336866.2_Missense_Mutation_p.E199K	NM_001200019.1	NP_001186948.1	P41146	OPRX_HUMAN	opiate receptor-like 1	199					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|behavior (GO:0007610)|opioid receptor signaling pathway (GO:0038003)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|sensory perception (GO:0007600)|sensory perception of pain (GO:0019233)	cytoplasmic vesicle (GO:0031410)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|nociceptin receptor activity (GO:0001626)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|skin(2)|urinary_tract(1)	19	all_cancers(38;4.74e-11)|all_epithelial(29;1.33e-12)|Lung NSC(23;3.27e-09)|all_lung(23;1.02e-08)					TGCAGAGATCGAGTGCCTGGT	0.637																																																	0													174.0	141.0	153.0					20																	62729634		2203	4298	6501	SO:0001583	missense	0				CCDS13556.1	20q13.33	2012-08-08			ENSG00000125510	ENSG00000125510		"""GPCR / Class A : Opioid receptors"""	8155	protein-coding gene	gene with protein product	"""LC132 receptor-like"", ""orphanin FQ receptor"", ""kappa3-related opioid receptor"""	602548				8137918	Standard	NM_000913		Approved	NOCIR, ORL1, OOR, KOR-3	uc021wgs.1	P41146	OTTHUMG00000033027	ENST00000349451.3:c.595G>A	20.37:g.62729634G>A	ENSP00000336764:p.Glu199Lys		Q8TD34|Q8WYH9|Q9H4K4	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfam_7TM_GPCR_serpentine_rcpt_Srx,pfscan_GPCR_Rhodpsn_7TM,prints_X_opioid_rcpt,prints_GPCR_Rhodpsn,prints_Opioid_rcpt,prints_Somatstn_rcpt,prints_Neuropept_B/W_rcpt,prints_NPY_rcpt	p.E199K	ENST00000349451.3	37	c.595	CCDS13556.1	20	.	.	.	.	.	.	.	.	.	.	G	21.6	4.166571	0.78339	.	.	ENSG00000125510	ENST00000336866;ENST00000355631;ENST00000349451	T;T;T	0.37235	1.21;1.21;1.21	4.71	4.71	0.59529	GPCR, rhodopsin-like superfamily (1);	0.052002	0.85682	D	0.000000	T	0.50531	0.1621	L	0.55213	1.73	0.80722	D	1	D;D	0.67145	0.964;0.996	P;P	0.57720	0.536;0.826	T	0.46992	-0.9151	10	0.35671	T	0.21	.	17.6656	0.88202	0.0:0.0:1.0:0.0	.	194;199	P41146-2;P41146	.;OPRX_HUMAN	K	199	ENSP00000336843:E199K;ENSP00000347848:E199K;ENSP00000336764:E199K	ENSP00000336843:E199K	E	+	1	0	OPRL1	62200078	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	9.561000	0.98142	2.166000	0.68216	0.555000	0.69702	GAG	OPRL1	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfam_7TM_GPCR_serpentine_rcpt_Srv,pfscan_GPCR_Rhodpsn_7TM,prints_X_opioid_rcpt,prints_Neuropept_B/W_rcpt	ENSG00000125510		0.637	OPRL1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	OPRL1	HGNC	protein_coding	OTTHUMT00000080295.1		0.00	35	0	G	NM_182647		62729634	+1			no_errors	ENST00000336866	ensembl	human	known	74_37	missense	8.33	55	5	SNP	1.000	A
OR10G9	219870	genome.wustl.edu	37	11	123894134	123894134	+	Missense_Mutation	SNP	A	A	G			TCGA-R6-A6L4-01A-11D-A31U-09	TCGA-R6-A6L4-10A-01D-A31U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	73e30098-463c-4d83-b6f7-dcc43fad6592	3fc2bd45-8cf9-420d-b900-a0fee703731d	g.chr11:123894134A>G	ENST00000375024.1	+	1	415	c.415A>G	c.(415-417)Aga>Gga	p.R139G		NM_001001953.1	NP_001001953.1	Q8NGN4	O10G9_HUMAN	olfactory receptor, family 10, subfamily G, member 9	139						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)		GAGTGGGAGCAGATGTGCCCT	0.552																																																	0													77.0	72.0	73.0					11																	123894134		2201	4288	6489	SO:0001583	missense	0			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.415A>G	11.37:g.123894134A>G	ENSP00000364164:p.Arg139Gly			Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.R139G	ENST00000375024.1	37	c.415	CCDS31703.1	11	.	.	.	.	.	.	.	.	.	.	A	1.853	-0.464589	0.04476	.	.	ENSG00000236981	ENST00000375024	T	0.41065	1.01	3.48	-5.42	0.02640	GPCR, rhodopsin-like superfamily (1);	1.210250	0.06075	N	0.660834	T	0.29914	0.0748	L	0.28014	0.82	0.09310	N	1	B	0.14438	0.01	B	0.22601	0.04	T	0.41822	-0.9487	10	0.72032	D	0.01	.	10.5368	0.45009	0.2997:0.1216:0.5786:0.0	.	139	Q8NGN4	O10G9_HUMAN	G	139	ENSP00000364164:R139G	ENSP00000364164:R139G	R	+	1	2	OR10G9	123399344	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.573000	0.02134	-1.414000	0.02025	-1.807000	0.00615	AGA	OR10G9	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt	ENSG00000236981		0.552	OR10G9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR10G9	HGNC	protein_coding	OTTHUMT00000387269.1		0.00	59	0	A	NM_001001953		123894134	+1			no_errors	ENST00000375024	ensembl	human	known	74_37	missense	27.91	31	12	SNP	0.000	G
OR1J4	26219	genome.wustl.edu	37	9	125281615	125281615	+	Missense_Mutation	SNP	T	T	G			TCGA-R6-A6L4-01A-11D-A31U-09	TCGA-R6-A6L4-10A-01D-A31U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	73e30098-463c-4d83-b6f7-dcc43fad6592	3fc2bd45-8cf9-420d-b900-a0fee703731d	g.chr9:125281615T>G	ENST00000340750.1	+	1	196	c.196T>G	c.(196-198)Ttg>Gtg	p.L66V		NM_001004452.1	NP_001004452.1	Q8NGS1	OR1J4_HUMAN	olfactory receptor, family 1, subfamily J, member 4	66						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			large_intestine(5)|lung(11)|skin(3)|upper_aerodigestive_tract(1)	20						CCTCAGCCACTTGGCTCTCAC	0.502																																																	0													298.0	248.0	265.0					9																	125281615		2203	4300	6503	SO:0001583	missense	0			X64979	CCDS35122.1	9q33.2	2013-09-20			ENSG00000239590	ENSG00000239590		"""GPCR / Class A : Olfactory receptors"""	8211	protein-coding gene	gene with protein product						1370859	Standard	NM_001004452		Approved	HTPCRX01, HSHTPCRX01	uc011lyw.2	Q8NGS1	OTTHUMG00000020606	ENST00000340750.1:c.196T>G	9.37:g.125281615T>G	ENSP00000343521:p.Leu66Val		A3KFM0|Q6IEZ3|Q96R89	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.L66V	ENST00000340750.1	37	c.196	CCDS35122.1	9	.	.	.	.	.	.	.	.	.	.	T	15.05	2.716888	0.48622	.	.	ENSG00000197233;ENSG00000239590	ENST00000444856;ENST00000340750	T	0.00507	6.92	5.52	0.584	0.17422	GPCR, rhodopsin-like superfamily (1);	0.000000	0.27768	U	0.017940	T	0.02688	0.0081	H	0.97365	3.99	0.30276	N	0.791795	D	0.89917	1.0	D	0.91635	0.999	T	0.03139	-1.1068	10	0.62326	D	0.03	.	9.5056	0.39044	0.0:0.3682:0.0:0.6318	.	66	Q8NGS1	OR1J4_HUMAN	V	232;66	ENSP00000343521:L66V	ENSP00000407987:L232V	L	+	1	2	OR1J2;OR1J4	124321436	0.000000	0.05858	1.000000	0.80357	0.429000	0.31625	-0.829000	0.04415	0.192000	0.20272	-0.269000	0.10298	TTG	OR1J4	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_GPCR_Rhodpsn	ENSG00000239590		0.502	OR1J4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR1J4	HGNC	protein_coding	OTTHUMT00000053936.1		0.00	88	0	T			125281615	+1			no_errors	ENST00000340750	ensembl	human	known	74_37	missense	25.58	64	22	SNP	0.999	G
OR1L4	254973	genome.wustl.edu	37	9	125486972	125486972	+	Missense_Mutation	SNP	A	A	C			TCGA-R6-A6L4-01A-11D-A31U-09	TCGA-R6-A6L4-10A-01D-A31U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	73e30098-463c-4d83-b6f7-dcc43fad6592	3fc2bd45-8cf9-420d-b900-a0fee703731d	g.chr9:125486972A>C	ENST00000259466.1	+	1	704	c.704A>C	c.(703-705)aAg>aCg	p.K235T		NM_001005235.1	NP_001005235.1	Q8NGR5	OR1L4_HUMAN	olfactory receptor, family 1, subfamily L, member 4	235						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|large_intestine(3)|lung(13)|prostate(1)|skin(1)	20						GCAGCCGGGAAGTGGAAGGCC	0.512																																																	0													235.0	215.0	222.0					9																	125486972		2203	4300	6503	SO:0001583	missense	0				CCDS35129.1	9q33.2	2013-09-20			ENSG00000136939	ENSG00000136939		"""GPCR / Class A : Olfactory receptors"""	8216	protein-coding gene	gene with protein product				OR1L5			Standard	NM_001005235		Approved	OR9-E	uc004bmu.1	Q8NGR5	OTTHUMG00000020620	ENST00000259466.1:c.704A>C	9.37:g.125486972A>C	ENSP00000259466:p.Lys235Thr		Q6IFN0|Q96R81	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.K235T	ENST00000259466.1	37	c.704	CCDS35129.1	9	.	.	.	.	.	.	.	.	.	.	.	15.28	2.787207	0.49997	.	.	ENSG00000136939	ENST00000259466	T	0.00169	8.63	4.07	4.07	0.47477	GPCR, rhodopsin-like superfamily (1);	0.000000	0.56097	D	0.000022	T	0.00412	0.0013	M	0.89601	3.045	0.32134	N	0.58634	P	0.46457	0.878	P	0.50617	0.646	T	0.03933	-1.0991	10	0.87932	D	0	-13.0107	7.1996	0.25873	0.897:0.0:0.103:0.0	.	235	Q8NGR5	OR1L4_HUMAN	T	235	ENSP00000259466:K235T	ENSP00000259466:K235T	K	+	2	0	OR1L4	124526793	0.346000	0.24844	0.944000	0.38274	0.712000	0.41017	2.884000	0.48562	1.719000	0.51432	0.248000	0.18094	AAG	OR1L4	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	ENSG00000136939		0.512	OR1L4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR1L4	HGNC	protein_coding	OTTHUMT00000053951.1		0.00	140	0	A			125486972	+1			no_errors	ENST00000259466	ensembl	human	known	74_37	missense	16.84	79	16	SNP	0.743	C
OR56B1	387748	genome.wustl.edu	37	11	5758407	5758407	+	Missense_Mutation	SNP	A	A	C			TCGA-R6-A6L4-01A-11D-A31U-09	TCGA-R6-A6L4-10A-01D-A31U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	73e30098-463c-4d83-b6f7-dcc43fad6592	3fc2bd45-8cf9-420d-b900-a0fee703731d	g.chr11:5758407A>C	ENST00000317121.3	+	1	727	c.661A>C	c.(661-663)Agt>Cgt	p.S221R	TRIM5_ENST00000380027.1_Intron	NM_001005180.2	NP_001005180.1	Q8NGI3	O56B1_HUMAN	olfactory receptor, family 56, subfamily B, member 1	221						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)|large_intestine(2)|lung(7)|prostate(1)|skin(1)	13		Medulloblastoma(188;0.0075)|all_neural(188;0.0572)|Breast(177;0.086)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)|LUSC - Lung squamous cell carcinoma(625;0.184)		GAGTGATCTAAGTCTTATTAT	0.468																																																	0													87.0	80.0	82.0					11																	5758407		2201	4297	6498	SO:0001583	missense	0			BK004386	CCDS31395.1	11p15.4	2012-08-09		2004-03-10	ENSG00000181023	ENSG00000181023		"""GPCR / Class A : Olfactory receptors"""	15245	protein-coding gene	gene with protein product				OR56B1P			Standard	NM_001005180		Approved		uc001mbt.2	Q8NGI3	OTTHUMG00000066891	ENST00000317121.3:c.661A>C	11.37:g.5758407A>C	ENSP00000322939:p.Ser221Arg		B2RNY6|B3KV42|Q6IF76	Missense_Mutation	SNP	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,prints_Olfact_rcpt,prints_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM	p.S221R	ENST00000317121.3	37	c.661	CCDS31395.1	11	.	.	.	.	.	.	.	.	.	.	A	13.85	2.360585	0.41801	.	.	ENSG00000181023	ENST00000317121	T	0.38560	1.13	5.87	-4.48	0.03515	GPCR, rhodopsin-like superfamily (1);	0.456992	0.18209	U	0.148259	T	0.33323	0.0859	L	0.43152	1.355	0.09310	N	1	P	0.35527	0.507	B	0.41412	0.356	T	0.36720	-0.9736	10	0.72032	D	0.01	.	8.5414	0.33395	0.3547:0.0:0.5303:0.115	.	221	Q8NGI3	O56B1_HUMAN	R	221	ENSP00000322939:S221R	ENSP00000322939:S221R	S	+	1	0	OR56B1	5714983	0.000000	0.05858	0.000000	0.03702	0.889000	0.51656	-0.581000	0.05820	-0.829000	0.04268	0.533000	0.62120	AGT	OR56B1	-	pfam_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_7TM	ENSG00000181023		0.468	OR56B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR56B1	HGNC	protein_coding	OTTHUMT00000143354.1		0.00	36	0	A	NM_001005180		5758407	+1			no_errors	ENST00000317121	ensembl	human	known	74_37	missense	48.00	13	12	SNP	0.000	C
OR5M11	219487	genome.wustl.edu	37	11	56310161	56310161	+	Silent	SNP	A	A	C			TCGA-R6-A6L4-01A-11D-A31U-09	TCGA-R6-A6L4-10A-01D-A31U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	73e30098-463c-4d83-b6f7-dcc43fad6592	3fc2bd45-8cf9-420d-b900-a0fee703731d	g.chr11:56310161A>C	ENST00000528616.2	-	1	596	c.573T>G	c.(571-573)acT>acG	p.T191T		NM_001005245.1	NP_001005245.1	Q96RB7	OR5MB_HUMAN	olfactory receptor, family 5, subfamily M, member 11	191						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(14)	18						CTTTGACATAAGTATCAGAAC	0.502																																																	0													53.0	55.0	54.0					11																	56310161		2078	4214	6292	SO:0001819	synonymous_variant	0			AP002517	CCDS53629.1	11q11	2012-08-09				ENSG00000255223		"""GPCR / Class A : Olfactory receptors"""	15291	protein-coding gene	gene with protein product							Standard	NM_001005245		Approved	OR11-199	uc010rjl.2	Q96RB7		ENST00000528616.2:c.573T>G	11.37:g.56310161A>C			B2RNL5|B2RNL7	Silent	SNP	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt,prints_GPCR_Rhodpsn	p.T191	ENST00000528616.2	37	c.573	CCDS53629.1	11																																																																																			OR5M11	-	pfam_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_7TM,prints_Olfact_rcpt	ENSG00000255223		0.502	OR5M11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR5M11	HGNC	protein_coding	OTTHUMT00000391608.1		0.00	25	0	A	NM_001005245		56310161	-1			no_errors	ENST00000528616	ensembl	human	known	74_37	silent	46.67	8	7	SNP	0.511	C
PCDHA7	56141	genome.wustl.edu	37	5	140214096	140214096	+	Missense_Mutation	SNP	A	A	C			TCGA-R6-A6L4-01A-11D-A31U-09	TCGA-R6-A6L4-10A-01D-A31U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	73e30098-463c-4d83-b6f7-dcc43fad6592	3fc2bd45-8cf9-420d-b900-a0fee703731d	g.chr5:140214096A>C	ENST00000525929.1	+	1	128	c.128A>C	c.(127-129)aAc>aCc	p.N43T	PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA7_ENST00000378125.3_Missense_Mutation_p.N43T|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron	NM_018910.2	NP_061733.1	Q9UN72	PCDA7_HUMAN	protocadherin alpha 7	43	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(2)|biliary_tract(1)|breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AAACATGGCAACTTCGTGGGC	0.622																																					NSCLC(160;258 2013 5070 22440 28951)												0													58.0	72.0	67.0					5																	140214096		2203	4299	6502	SO:0001583	missense	0			AF152485	CCDS54918.1	5q31	2010-11-26				ENSG00000204963		"""Cadherins / Protocadherins : Clustered"""	8673	other	complex locus constituent	"""KIAA0345-like 7"", ""ortholog to mouse CNR4"""	606313		CNRS4		10380929, 10662547	Standard	NM_018910		Approved	CNR4, CRNR4		Q9UN72		ENST00000525929.1:c.128A>C	5.37:g.140214096A>C	ENSP00000436426:p.Asn43Thr		O75282	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.N43T	ENST00000525929.1	37	c.128	CCDS54918.1	5	.	.	.	.	.	.	.	.	.	.	C	1.925	-0.447441	0.04572	.	.	ENSG00000204963	ENST00000525929;ENST00000378125	T;T	0.31247	1.5;1.5	4.02	3.15	0.36227	Cadherin, N-terminal (1);Cadherin (1);Cadherin-like (1);	.	.	.	.	T	0.02888	0.0086	N	0.00000	-3.92	0.25701	N	0.98558	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.33574	-0.9863	9	0.02654	T	1	.	13.4185	0.60982	0.1588:0.8412:0.0:0.0	.	43;43	Q9UN72-2;Q9UN72	.;PCDA7_HUMAN	T	43	ENSP00000436426:N43T;ENSP00000367365:N43T	ENSP00000367365:N43T	N	+	2	0	PCDHA7	140194280	0.011000	0.17503	1.000000	0.80357	0.834000	0.47266	2.608000	0.46308	0.809000	0.34255	-0.405000	0.06341	AAC	PCDHA7	-	pfam_Cadherin_N,superfamily_Cadherin-like	ENSG00000204963		0.622	PCDHA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHA7	HGNC	protein_coding	OTTHUMT00000372887.2		0.00	112	0	A	NM_018910		140214096	+1			no_errors	ENST00000525929	ensembl	human	known	74_37	missense	19.72	56	14	SNP	1.000	C
PCDHB12	56124	genome.wustl.edu	37	5	140590121	140590121	+	Missense_Mutation	SNP	C	C	T			TCGA-R6-A6L4-01A-11D-A31U-09	TCGA-R6-A6L4-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	73e30098-463c-4d83-b6f7-dcc43fad6592	3fc2bd45-8cf9-420d-b900-a0fee703731d	g.chr5:140590121C>T	ENST00000239450.2	+	1	1831	c.1642C>T	c.(1642-1644)Cgc>Tgc	p.R548C	PCDHB12_ENST00000541609.1_Missense_Mutation_p.R211C	NM_018932.3	NP_061755.1	Q9Y5F1	PCDBC_HUMAN	protocadherin beta 12	548	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGCGCTGGTGCGCGTGCTGGT	0.706																																																	0													31.0	36.0	34.0					5																	140590121		2201	4296	6497	SO:0001583	missense	0			AF152491	CCDS4254.1	5q31	2010-01-26			ENSG00000120328	ENSG00000120328		"""Cadherins / Protocadherins : Clustered"""	8683	other	protocadherin		606338				10380929	Standard	NM_018932		Approved	PCDH-BETA12	uc003liz.3	Q9Y5F1	OTTHUMG00000129620	ENST00000239450.2:c.1642C>T	5.37:g.140590121C>T	ENSP00000239450:p.Arg548Cys		B4DDU1	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.R548C	ENST00000239450.2	37	c.1642	CCDS4254.1	5	.	.	.	.	.	.	.	.	.	.	C	17.23	3.336340	0.60963	.	.	ENSG00000120328	ENST00000541609;ENST00000239450;ENST00000507840	T;T	0.01767	4.65;4.65	3.41	2.5	0.30297	Cadherin (5);Cadherin-like (1);	.	.	.	.	T	0.10035	0.0246	M	0.84948	2.725	0.36704	D	0.880266	D	0.89917	1.0	D	0.85130	0.997	T	0.02087	-1.1216	9	0.87932	D	0	.	9.945	0.41602	0.3687:0.6313:0.0:0.0	.	548	Q9Y5F1	PCDBC_HUMAN	C	211;548;168	ENSP00000440199:R211C;ENSP00000239450:R548C	ENSP00000239450:R548C	R	+	1	0	PCDHB12	140570305	0.000000	0.05858	0.796000	0.32109	0.995000	0.86356	0.601000	0.24119	0.523000	0.28482	0.485000	0.47835	CGC	PCDHB12	-	pfam_Cadherin,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	ENSG00000120328		0.706	PCDHB12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHB12	HGNC	protein_coding	OTTHUMT00000251815.2		0.00	163	0	C	NM_018932		140590121	+1			no_errors	ENST00000239450	ensembl	human	known	74_37	missense	40.38	62	42	SNP	0.752	T
PDIA6	10130	genome.wustl.edu	37	2	10930911	10930911	+	Silent	SNP	C	C	G	rs145487229	byFrequency	TCGA-R6-A6L4-01A-11D-A31U-09	TCGA-R6-A6L4-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	73e30098-463c-4d83-b6f7-dcc43fad6592	3fc2bd45-8cf9-420d-b900-a0fee703731d	g.chr2:10930911C>G	ENST00000272227.3	-	7	780	c.633G>C	c.(631-633)acG>acC	p.T211T	PDIA6_ENST00000404371.2_Silent_p.T263T|PDIA6_ENST00000404824.2_Silent_p.T259T|PDIA6_ENST00000540494.1_Silent_p.T208T|PDIA6_ENST00000381611.4_Silent_p.T216T	NM_001282707.1|NM_005742.2	NP_001269636.1|NP_005733.1	Q15084	PDIA6_HUMAN	protein disulfide isomerase family A, member 6	211	Thioredoxin 2. {ECO:0000255|PROSITE- ProRule:PRU00691}.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|apoptotic cell clearance (GO:0043277)|cell redox homeostasis (GO:0045454)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|protein folding (GO:0006457)|response to endoplasmic reticulum stress (GO:0034976)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	protein disulfide isomerase activity (GO:0003756)	p.T211T(1)		central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(8)|prostate(2)	18	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			Epithelial(75;0.149)|OV - Ovarian serous cystadenocarcinoma(76;0.15)		CTTTTCCTTTCGTCTGCTCTT	0.443																																					GBM(73;509 1219 34219 41343 41551)												1	Substitution - coding silent(1)	lung(1)											152.0	146.0	148.0					2																	10930911		2203	4300	6503	SO:0001819	synonymous_variant	0			BC001312	CCDS1675.1, CCDS62852.1, CCDS62853.1, CCDS62854.1, CCDS62855.1	2p25.1	2009-11-20	2005-06-29	2005-03-03	ENSG00000143870	ENSG00000143870	5.3.4.1	"""Protein disulfide isomerases"""	30168	protein-coding gene	gene with protein product	"""protein disulfide isomerase-related protein"""	611099	"""thioredoxin domain containing 7 (protein disulfide isomerase)"", ""protein disulfide isomerase-associated 6"""	TXNDC7		7590364, 12204115	Standard	XM_005246145		Approved	P5, ERp5	uc002rau.3	Q15084	OTTHUMG00000090479	ENST00000272227.3:c.633G>C	2.37:g.10930911C>G			B3KY95|B5MCQ5|B7Z254|B7Z4M8|F8WA83|Q53RC7|Q6ZSH5|Q99778	Silent	SNP	pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold,prints_Thioredoxin,tigrfam_Disulphide_isomerase	p.T216	ENST00000272227.3	37	c.648	CCDS1675.1	2																																																																																			PDIA6	-	pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold,tigrfam_Disulphide_isomerase	ENSG00000143870		0.443	PDIA6-001	KNOWN	basic|CCDS	protein_coding	PDIA6	HGNC	protein_coding	OTTHUMT00000206933.1		0.00	23	0	C	NM_005742		10930911	-1			no_errors	ENST00000381611	ensembl	human	known	74_37	silent	25.00	15	5	SNP	0.000	G
PHF7	51533	genome.wustl.edu	37	3	52456288	52456288	+	Missense_Mutation	SNP	G	G	A			TCGA-R6-A6L4-01A-11D-A31U-09	TCGA-R6-A6L4-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	73e30098-463c-4d83-b6f7-dcc43fad6592	3fc2bd45-8cf9-420d-b900-a0fee703731d	g.chr3:52456288G>A	ENST00000327906.3	+	9	1391	c.731G>A	c.(730-732)cGc>cAc	p.R244H	PHF7_ENST00000347025.2_Intron	NM_016483.4	NP_057567.3	Q9BWX1	PHF7_HUMAN	PHD finger protein 7	244						Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	zinc ion binding (GO:0008270)			breast(2)|large_intestine(4)|lung(3)	9				BRCA - Breast invasive adenocarcinoma(193;1.71e-05)|Kidney(197;0.00178)|KIRC - Kidney renal clear cell carcinoma(197;0.00201)|OV - Ovarian serous cystadenocarcinoma(275;0.0275)		TTATATCAGCGCTATCAGCAC	0.498																																																	0													98.0	94.0	96.0					3																	52456288		2203	4300	6503	SO:0001583	missense	0			AY014283	CCDS2854.1, CCDS2855.1	3p21.31	2013-01-28			ENSG00000010318	ENSG00000010318		"""Zinc fingers, PHD-type"""	18458	protein-coding gene	gene with protein product						11042152, 11829468	Standard	NM_016483		Approved	NYD-SP6, HSPC226	uc003ddy.3	Q9BWX1	OTTHUMG00000158495	ENST00000327906.3:c.731G>A	3.37:g.52456288G>A	ENSP00000333024:p.Arg244His		K4DI82	Missense_Mutation	SNP	superfamily_Znf_FYVE_PHD,smart_Znf_PHD,pfscan_Znf_RING	p.R244H	ENST00000327906.3	37	c.731	CCDS2854.1	3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	18.13|18.13	3.555323|3.555323	0.65425|0.65425	.|.	.|.	ENSG00000010318|ENSG00000010318	ENST00000461861|ENST00000478707;ENST00000327906;ENST00000394916	.|T;T	.|0.10668	.|2.85;2.85	5.75|5.75	4.87|4.87	0.63330|0.63330	.|Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, FYVE/PHD-type (1);	.|0.183995	.|0.49916	.|D	.|0.000130	T|T	0.13586|0.13586	0.0329|0.0329	L|L	0.59436|0.59436	1.845|1.845	0.80722|0.80722	D|D	1|1	.|D	.|0.58620	.|0.983	.|P	.|0.46339	.|0.513	T|T	0.01762|0.01762	-1.1279|-1.1279	5|10	.|0.24483	.|T	.|0.36	-14.6779|-14.6779	9.7093|9.7093	0.40236|0.40236	0.0917:0.0:0.9083:0.0|0.0917:0.0:0.9083:0.0	.|.	.|244	.|Q9BWX1	.|PHF7_HUMAN	T|H	204|244;244;153	.|ENSP00000419316:R244H;ENSP00000333024:R244H	.|ENSP00000333024:R244H	A|R	+|+	1|2	0|0	PHF7|PHF7	52431328|52431328	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	2.920000|2.920000	0.48844|0.48844	2.719000|2.719000	0.93026|0.93026	0.655000|0.655000	0.94253|0.94253	GCT|CGC	PHF7	-	superfamily_Znf_FYVE_PHD	ENSG00000010318		0.498	PHF7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PHF7	HGNC	protein_coding	OTTHUMT00000351155.1		0.00	45	0	G	NM_016483		52456288	+1			no_errors	ENST00000327906	ensembl	human	known	74_37	missense	34.38	21	11	SNP	1.000	A
PITX2	5308	genome.wustl.edu	37	4	111543490	111543490	+	Intron	SNP	G	G	A			TCGA-R6-A6L4-01A-11D-A31U-09	TCGA-R6-A6L4-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	73e30098-463c-4d83-b6f7-dcc43fad6592	3fc2bd45-8cf9-420d-b900-a0fee703731d	g.chr4:111543490G>A	ENST00000354925.2	-	6	1890				PITX2_ENST00000355080.5_Intron|PITX2_ENST00000306732.3_Nonsense_Mutation_p.Q43*|PITX2_ENST00000556049.1_5'Flank|PITX2_ENST00000394598.2_Intron|PITX2_ENST00000394595.3_Intron|PITX2_ENST00000557119.2_Nonsense_Mutation_p.Q43*	NM_001204397.1	NP_001191326.1	Q99697	PITX2_HUMAN	paired-like homeodomain 2						atrial cardiac muscle tissue morphogenesis (GO:0055009)|atrioventricular valve development (GO:0003171)|camera-type eye development (GO:0043010)|cardiac neural crest cell migration involved in outflow tract morphogenesis (GO:0003253)|cell proliferation involved in outflow tract morphogenesis (GO:0061325)|deltoid tuberosity development (GO:0035993)|determination of left/right symmetry (GO:0007368)|embryonic camera-type eye development (GO:0031076)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic hindlimb morphogenesis (GO:0035116)|endodermal digestive tract morphogenesis (GO:0061031)|extraocular skeletal muscle development (GO:0002074)|female gonad development (GO:0008585)|hair cell differentiation (GO:0035315)|hypothalamus cell migration (GO:0021855)|in utero embryonic development (GO:0001701)|iris morphogenesis (GO:0061072)|left lung morphogenesis (GO:0060460)|left/right axis specification (GO:0070986)|male gonad development (GO:0008584)|myoblast fusion (GO:0007520)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron migration (GO:0001764)|odontogenesis (GO:0042476)|odontogenesis of dentin-containing tooth (GO:0042475)|patterning of blood vessels (GO:0001569)|positive regulation of DNA binding (GO:0043388)|positive regulation of myoblast proliferation (GO:2000288)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prolactin secreting cell differentiation (GO:0060127)|pulmonary myocardium development (GO:0003350)|pulmonary vein morphogenesis (GO:0060577)|regulation of cell migration (GO:0030334)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|response to hormone (GO:0009725)|response to vitamin A (GO:0033189)|somatotropin secreting cell differentiation (GO:0060126)|spleen development (GO:0048536)|subthalamic nucleus development (GO:0021763)|superior vena cava morphogenesis (GO:0060578)|vascular smooth muscle cell differentiation (GO:0035886)|vasculogenesis (GO:0001570)|ventricular cardiac muscle cell development (GO:0055015)|ventricular septum morphogenesis (GO:0060412)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin DNA binding (GO:0031490)|phosphoprotein binding (GO:0051219)|protein homodimerization activity (GO:0042803)|ribonucleoprotein complex binding (GO:0043021)|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 negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II transcription coactivator activity (GO:0001105)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription factor binding transcription factor activity involved in negative regulation of transcription (GO:0001191)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			breast(1)|endometrium(3)|large_intestine(1)|lung(5)	10		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.00222)		GACCGGGGCTGACCGGGAGCC	0.682																																																	0													23.0	24.0	24.0					4																	111543490		2199	4299	6498	SO:0001627	intron_variant	0			U69961	CCDS3692.1, CCDS3693.1, CCDS3694.1	4q25	2011-06-20	2007-07-12		ENSG00000164093	ENSG00000164093		"""Homeoboxes / PRD class"""	9005	protein-coding gene	gene with protein product		601542	"""paired-like homeodomain transcription factor 2"""	IRID2, IHG2, RIEG, RIEG1, RGS		9539779, 7581385	Standard	NM_000325		Approved	IGDS, RS, Brx1, Otlx2, ARP1	uc021xqr.1	Q99697	OTTHUMG00000132837	ENST00000354925.2:c.185-965C>T	4.37:g.111543490G>A			A8K6C6|B2RA02|B3KXS0|O60578|O60579|O60580|Q3KQX9|Q9BY17	Nonsense_Mutation	SNP	pfam_Homeobox_dom,pfam_OAR_dom,superfamily_Homeodomain-like,smart_Homeobox_dom,pirsf_Homeobox_Pitx/unc30,pfscan_OAR_dom,pfscan_Homeobox_dom	p.Q43*	ENST00000354925.2	37	c.127	CCDS3692.1	4	.	.	.	.	.	.	.	.	.	.	G	43	10.316386	0.99381	.	.	ENSG00000164093	ENST00000306732	.	.	.	5.01	5.01	0.66863	.	0.382752	0.27846	N	0.017620	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.12430	T	0.62	.	17.9142	0.88944	0.0:0.0:1.0:0.0	.	.	.	.	X	43	.	ENSP00000304169:Q43X	Q	-	1	0	PITX2	111762939	1.000000	0.71417	0.995000	0.50966	0.997000	0.91878	8.807000	0.91935	2.318000	0.78349	0.655000	0.94253	CAG	PITX2	-	pirsf_Homeobox_Pitx/unc30	ENSG00000164093		0.682	PITX2-003	KNOWN	alternative_5_UTR|basic|CCDS	protein_coding	PITX2	HGNC	protein_coding	OTTHUMT00000256308.2		0.00	89	0	G			111543490	-1			no_errors	ENST00000306732	ensembl	human	known	74_37	nonsense	39.02	25	16	SNP	1.000	A
PLA2G10	8399	genome.wustl.edu	37	16	14766487	14766487	+	Missense_Mutation	SNP	G	G	A			TCGA-R6-A6L4-01A-11D-A31U-09	TCGA-R6-A6L4-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	73e30098-463c-4d83-b6f7-dcc43fad6592	3fc2bd45-8cf9-420d-b900-a0fee703731d	g.chr16:14766487G>A	ENST00000438167.3	-	4	914	c.475C>T	c.(475-477)Ccg>Tcg	p.P159S		NM_003561.1	NP_003552.1	O15496	PA2GX_HUMAN	phospholipase A2, group X	159					arachidonic acid metabolic process (GO:0019369)|axon guidance (GO:0007411)|cholesterol homeostasis (GO:0042632)|glycerophospholipid biosynthetic process (GO:0046474)|lipid catabolic process (GO:0016042)|lysophospholipid transport (GO:0051977)|negative regulation of cholesterol efflux (GO:0090370)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylglycerol acyl-chain remodeling (GO:0036148)|phosphatidylinositol acyl-chain remodeling (GO:0036149)|phosphatidylserine acyl-chain remodeling (GO:0036150)|phospholipid metabolic process (GO:0006644)|positive regulation of arachidonic acid secretion (GO:0090238)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|positive regulation of prostaglandin secretion (GO:0032308)|regulation of macrophage activation (GO:0043030)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)	calcium ion binding (GO:0005509)|phospholipase A2 activity (GO:0004623)|phospholipase activity (GO:0004620)										GGCGAGTCCGGCTCACATAGG	0.448																																																	0													190.0	172.0	178.0					16																	14766487		2197	4300	6497	SO:0001583	missense	0			U95301	CCDS10555.1	16p13.1-p12	2008-09-19			ENSG00000069764	ENSG00000069764	3.1.1.4		9029	protein-coding gene	gene with protein product		603603				9188469	Standard	NM_003561		Approved	GXPLA2	uc002dcq.3	O15496	OTTHUMG00000048069	ENST00000438167.3:c.475C>T	16.37:g.14766487G>A	ENSP00000393847:p.Pro159Ser		Q14DU3|Q6NT23	Missense_Mutation	SNP	pfam_PLipase_A2_dom,superfamily_PLipase_A2_dom,smart_PLipase_A2_dom,prints_PLipase_A2	p.P159S	ENST00000438167.3	37	c.475	CCDS10555.1	16	.	.	.	.	.	.	.	.	.	.	G	6.968	0.548647	0.13312	.	.	ENSG00000069764	ENST00000438167;ENST00000261659	T	0.25579	1.79	5.64	-11.3	0.00108	Phospholipase A2 (2);	2.401260	0.01745	N	0.029629	T	0.08537	0.0212	N	0.08118	0	0.09310	N	1	B	0.09022	0.002	B	0.01281	0.0	T	0.14755	-1.0461	10	0.15066	T	0.55	.	2.9996	0.06009	0.0874:0.2616:0.3136:0.3374	.	159	O15496	PA2GX_HUMAN	S	159	ENSP00000393847:P159S	ENSP00000261659:P159S	P	-	1	0	PLA2G10	14673988	0.000000	0.05858	0.000000	0.03702	0.086000	0.17979	-1.776000	0.01781	-2.021000	0.00939	-0.227000	0.12334	CCG	PLA2G10	-	superfamily_PLipase_A2_dom	ENSG00000069764		0.448	PLA2G10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLA2G10	HGNC	protein_coding	OTTHUMT00000109393.3		0.00	123	0	G	NM_003561		14766487	-1			no_errors	ENST00000438167	ensembl	human	known	74_37	missense	5.71	66	4	SNP	0.000	A
PLIN4	729359	genome.wustl.edu	37	19	4511250	4511250	+	Missense_Mutation	SNP	A	A	C			TCGA-R6-A6L4-01A-11D-A31U-09	TCGA-R6-A6L4-10A-01D-A31U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	73e30098-463c-4d83-b6f7-dcc43fad6592	3fc2bd45-8cf9-420d-b900-a0fee703731d	g.chr19:4511250A>C	ENST00000301286.3	-	3	2679	c.2680T>G	c.(2680-2682)Ttg>Gtg	p.L894V		NM_001080400.1	NP_001073869.1	Q96Q06	PLIN4_HUMAN	perilipin 4	894	27 X 33 AA approximate tandem repeat.					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						CCTTTGGCCAAGTTCACAGCC	0.597																																																	0													107.0	111.0	109.0					19																	4511250		2009	4165	6174	SO:0001583	missense	0			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.2680T>G	19.37:g.4511250A>C	ENSP00000301286:p.Leu894Val		A6NEI2	Missense_Mutation	SNP	pfam_Perilipin,superfamily_Ankyrin_rpt-contain_dom	p.L894V	ENST00000301286.3	37	c.2680	CCDS45927.1	19	.	.	.	.	.	.	.	.	.	.	A	0.237	-1.016262	0.02078	.	.	ENSG00000167676	ENST00000301286	T	0.06142	3.34	4.86	-2.03	0.07365	.	1.101450	0.07304	N	0.874684	T	0.01523	0.0049	N	0.01535	-0.81	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.44251	-0.9340	10	0.02654	T	1	-4.3193	0.2791	0.00242	0.3279:0.2521:0.1338:0.2861	.	894	Q96Q06	PLIN4_HUMAN	V	894	ENSP00000301286:L894V	ENSP00000301286:L894V	L	-	1	2	PLIN4	4462250	0.000000	0.05858	0.061000	0.19648	0.017000	0.09413	-5.297000	0.00133	-0.214000	0.10078	0.379000	0.24179	TTG	PLIN4	-	NULL	ENSG00000167676		0.597	PLIN4-001	NOVEL	basic|appris_principal|CCDS	protein_coding	PLIN4	HGNC	protein_coding	OTTHUMT00000395095.1		0.00	96	0	A	XM_170901		4511250	-1			no_errors	ENST00000301286	ensembl	human	novel	74_37	missense	10.87	41	5	SNP	0.009	C
PLIN4	729359	genome.wustl.edu	37	19	4511646	4511646	+	Missense_Mutation	SNP	A	A	C	rs75876308	byFrequency	TCGA-R6-A6L4-01A-11D-A31U-09	TCGA-R6-A6L4-10A-01D-A31U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	73e30098-463c-4d83-b6f7-dcc43fad6592	3fc2bd45-8cf9-420d-b900-a0fee703731d	g.chr19:4511646A>C	ENST00000301286.3	-	3	2283	c.2284T>G	c.(2284-2286)Ttg>Gtg	p.L762V		NM_001080400.1	NP_001073869.1	Q96Q06	PLIN4_HUMAN	perilipin 4	762	27 X 33 AA approximate tandem repeat.					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						CCTTTGGCCAACTTCACAGCC	0.572													a|||	44	0.00878594	0.0053	0.0519	5008	,	,		20320	0.001		0.0	False		,,,				2504	0.0																0													122.0	94.0	103.0					19																	4511646		2076	4195	6271	SO:0001583	missense	0			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.2284T>G	19.37:g.4511646A>C	ENSP00000301286:p.Leu762Val		A6NEI2	Missense_Mutation	SNP	pfam_Perilipin,superfamily_Ankyrin_rpt-contain_dom	p.L762V	ENST00000301286.3	37	c.2284	CCDS45927.1	19	.	.	.	.	.	.	.	.	.	.	a	0.015	-1.558038	0.00910	.	.	ENSG00000167676	ENST00000301286	T	0.02301	4.35	4.69	-5.67	0.02444	.	0.530450	0.15430	N	0.262752	T	0.00468	0.0015	N	0.00507	-1.42	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.38265	-0.9669	10	0.02654	T	1	-8.2514	0.877	0.01226	0.3483:0.2765:0.102:0.2731	.	762	Q96Q06	PLIN4_HUMAN	V	762	ENSP00000301286:L762V	ENSP00000301286:L762V	L	-	1	2	PLIN4	4462646	0.000000	0.05858	0.003000	0.11579	0.001000	0.01503	-7.181000	0.00042	-0.937000	0.03719	-2.150000	0.00334	TTG	PLIN4	-	NULL	ENSG00000167676		0.572	PLIN4-001	NOVEL	basic|appris_principal|CCDS	protein_coding	PLIN4	HGNC	protein_coding	OTTHUMT00000395095.1		0.00	105	0	A	XM_170901		4511646	-1			no_errors	ENST00000301286	ensembl	human	novel	74_37	missense	28.16	74	29	SNP	0.000	C
PLSCR5	389158	genome.wustl.edu	37	3	146309619	146309619	+	Missense_Mutation	SNP	T	T	G			TCGA-R6-A6L4-01A-11D-A31U-09	TCGA-R6-A6L4-10A-01D-A31U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	73e30098-463c-4d83-b6f7-dcc43fad6592	3fc2bd45-8cf9-420d-b900-a0fee703731d	g.chr3:146309619T>G	ENST00000443512.1	-	5	1506	c.503A>C	c.(502-504)aAg>aCg	p.K168T	PLSCR5_ENST00000492200.1_Missense_Mutation_p.K168T|PLSCR5-AS1_ENST00000473817.1_RNA|PLSCR5_ENST00000482567.1_Missense_Mutation_p.K156T	NM_001085420.1	NP_001078889.1	A0PG75	PLS5_HUMAN	phospholipid scramblase family, member 5	168										endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|urinary_tract(1)	12						GGGGTCCCACTTCTGCGTAAC	0.363																																																	0													60.0	56.0	57.0					3																	146309619		1831	4094	5925	SO:0001583	missense	0			AY436642	CCDS46931.1	3q24	2004-06-28			ENSG00000231213	ENSG00000231213			19952	protein-coding gene	gene with protein product							Standard	NM_001085420		Approved		uc010hvc.3	A0PG75	OTTHUMG00000159437	ENST00000443512.1:c.503A>C	3.37:g.146309619T>G	ENSP00000390111:p.Lys168Thr		B2RXK5	Missense_Mutation	SNP	pfam_Scramblase,superfamily_Tubby_C-like	p.K168T	ENST00000443512.1	37	c.503	CCDS46931.1	3	.	.	.	.	.	.	.	.	.	.	T	13.31	2.200114	0.38905	.	.	ENSG00000231213	ENST00000492200;ENST00000482567;ENST00000443512	T;T;T	0.39406	1.08;1.08;1.08	5.66	3.2	0.36748	Tubby, C-terminal (1);	.	.	.	.	T	0.16171	0.0389	N	0.01817	-0.705	0.30214	N	0.797447	B;B	0.20459	0.004;0.045	B;B	0.28305	0.012;0.088	T	0.29882	-0.9997	9	0.06236	T	0.91	-14.3749	8.7092	0.34374	0.0:0.0676:0.1279:0.8045	.	156;168	B2RXK5;A0PG75	.;PLS5_HUMAN	T	168;156;168	ENSP00000417184:K168T;ENSP00000418626:K156T;ENSP00000390111:K168T	ENSP00000390111:K168T	K	-	2	0	PLSCR5	147792309	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	5.979000	0.70508	0.956000	0.37904	0.523000	0.50628	AAG	PLSCR5	-	pfam_Scramblase,superfamily_Tubby_C-like	ENSG00000231213		0.363	PLSCR5-003	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	PLSCR5	HGNC	protein_coding	OTTHUMT00000355365.1		0.00	146	0	T	XM_371670		146309619	-1			no_errors	ENST00000443512	ensembl	human	known	74_37	missense	50.94	26	27	SNP	1.000	G
PNPO	55163	genome.wustl.edu	37	17	46024062	46024062	+	Missense_Mutation	SNP	C	C	T	rs368943864		TCGA-R6-A6L4-01A-11D-A31U-09	TCGA-R6-A6L4-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	73e30098-463c-4d83-b6f7-dcc43fad6592	3fc2bd45-8cf9-420d-b900-a0fee703731d	g.chr17:46024062C>T	ENST00000225573.4	+	7	805	c.700C>T	c.(700-702)Cgg>Tgg	p.R234W	PNPO_ENST00000534893.1_Missense_Mutation_p.R139W|RP11-6N17.6_ENST00000580372.1_RNA|PNPO_ENST00000544840.1_Missense_Mutation_p.R216W|PNPO_ENST00000434554.2_Missense_Mutation_p.R191W|RP11-6N17.9_ENST00000582262.1_RNA|RP11-6N17.6_ENST00000582142.1_RNA	NM_018129.3	NP_060599.1	Q9NVS9	PNPO_HUMAN	pyridoxamine 5'-phosphate oxidase	234					pyridoxine biosynthetic process (GO:0008615)|small molecule metabolic process (GO:0044281)|vitamin B6 metabolic process (GO:0042816)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	FMN binding (GO:0010181)|pyridoxamine-phosphate oxidase activity (GO:0004733)	p.R234W(1)		endometrium(2)|large_intestine(1)|lung(1)|urinary_tract(1)	5						AGTCTTTCGGCGGGGCCTACC	0.577											OREG0024505	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					1	Substitution - Missense(1)	endometrium(1)											70.0	72.0	72.0					17																	46024062		2203	4300	6503	SO:0001583	missense	0			AF468030	CCDS11522.1	17q21.32	2008-11-27	2006-07-12			ENSG00000108439	1.4.3.5		30260	protein-coding gene	gene with protein product		603287	"""pyridoxine 5'-phosphate oxidase"""			9601034, 15182361	Standard	NM_018129		Approved	PDXPO	uc002imo.3	Q9NVS9		ENST00000225573.4:c.700C>T	17.37:g.46024062C>T	ENSP00000225573:p.Arg234Trp	936	B4E0V0|B4E152|B4E1D7|D3DTT9	Missense_Mutation	SNP	pfam_Pyridox_Oxase_FMN-bd,pfam_Pyridoxamine_oxidase_dimer_C,superfamily_Split_barrel_FMN-bd,tigrfam_Pyridox_Oxase	p.R234W	ENST00000225573.4	37	c.700	CCDS11522.1	17	.	.	.	.	.	.	.	.	.	.	C	17.95	3.513906	0.64522	.	.	ENSG00000108439	ENST00000225573;ENST00000434554;ENST00000544840;ENST00000534893	T;T;T;T	0.80214	-1.35;-1.35;-1.35;-1.35	5.22	-4.03	0.04021	Pyridoxine 5&apos (1);FMN-binding split barrel-related (1);-phosphate oxidase, dimerisation, C-terminal (1);FMN-binding split barrel (1);	0.118364	0.53938	D	0.000053	D	0.88588	0.6477	M	0.86805	2.84	0.34850	D	0.741586	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.79784	0.975;0.993;0.969	D	0.90662	0.4591	10	0.87932	D	0	-8.368	15.2143	0.73250	0.6923:0.3077:0.0:0.0	.	191;216;234	B4E152;B4E1D7;Q9NVS9	.;.;PNPO_HUMAN	W	234;191;216;139	ENSP00000225573:R234W;ENSP00000399960:R191W;ENSP00000446182:R216W;ENSP00000437480:R139W	ENSP00000225573:R234W	R	+	1	2	PNPO	43379061	0.220000	0.23631	0.017000	0.16124	0.211000	0.24417	0.168000	0.16622	-0.361000	0.08125	-0.314000	0.08810	CGG	PNPO	-	pfam_Pyridoxamine_oxidase_dimer_C,superfamily_Split_barrel_FMN-bd,tigrfam_Pyridox_Oxase	ENSG00000108439		0.577	PNPO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PNPO	HGNC	protein_coding	OTTHUMT00000441407.1		0.00	74	0	C	NM_018129		46024062	+1			no_errors	ENST00000225573	ensembl	human	known	74_37	missense	6.90	27	2	SNP	0.016	T
PPAP2A	8611	genome.wustl.edu	37	5	54721117	54721117	+	Nonsense_Mutation	SNP	C	C	A			TCGA-R6-A6L4-01A-11D-A31U-09	TCGA-R6-A6L4-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	73e30098-463c-4d83-b6f7-dcc43fad6592	3fc2bd45-8cf9-420d-b900-a0fee703731d	g.chr5:54721117C>A	ENST00000307259.8	-	6	1192	c.772G>T	c.(772-774)Gaa>Taa	p.E258*	SKIV2L2_ENST00000230640.5_3'UTR|PPAP2A_ENST00000264775.5_Nonsense_Mutation_p.E259*	NM_003711.2	NP_003702.2	O14494	LPP1_HUMAN	phosphatidic acid phosphatase type 2A	258					androgen receptor signaling pathway (GO:0030521)|germ cell migration (GO:0008354)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|lipid metabolic process (GO:0006629)|negative regulation of cell proliferation (GO:0008285)|phospholipid dephosphorylation (GO:0046839)|protein dephosphorylation (GO:0006470)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of lipid metabolic process (GO:0019216)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	phosphatidate phosphatase activity (GO:0008195)			breast(2)|endometrium(1)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)	9		Lung NSC(810;4.08e-05)|Prostate(74;0.0181)|Breast(144;0.0544)				TCTTTTCTTTCTTTAAAAGAA	0.378																																																	0													126.0	118.0	121.0					5																	54721117		2203	4300	6503	SO:0001587	stop_gained	0			AB000888	CCDS34159.1, CCDS34160.1	5q11	2009-05-27			ENSG00000067113	ENSG00000067113	3.1.3.4		9228	protein-coding gene	gene with protein product		607124				9305923	Standard	NM_003711		Approved	PAP-2a, LPP1	uc003jpz.4	O14494	OTTHUMG00000162240	ENST00000307259.8:c.772G>T	5.37:g.54721117C>A	ENSP00000302229:p.Glu258*		B7ZKN8|G3XA95|O60457|O60463|Q17RZ4	Nonsense_Mutation	SNP	pfam_P_Acid_Pase_2/haloperoxidase,superfamily_P_Acid_Pase_2/haloperoxidase,smart_P_Acid_Pase_2/haloperoxidase	p.E259*	ENST00000307259.8	37	c.775	CCDS34159.1	5	.	.	.	.	.	.	.	.	.	.	C	36	5.739159	0.96873	.	.	ENSG00000067113	ENST00000264775;ENST00000307259	.	.	.	5.66	4.78	0.61160	.	0.553787	0.18768	N	0.131685	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.06099	T	0.92	-21.0036	12.7595	0.57356	0.0:0.6175:0.3825:0.0	.	.	.	.	X	259;258	.	ENSP00000264775:E259X	E	-	1	0	PPAP2A	54756874	1.000000	0.71417	1.000000	0.80357	0.868000	0.49771	4.362000	0.59467	2.657000	0.90304	0.655000	0.94253	GAA	PPAP2A	-	superfamily_P_Acid_Pase_2/haloperoxidase	ENSG00000067113		0.378	PPAP2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PPAP2A	HGNC	protein_coding	OTTHUMT00000368073.1		0.00	55	0	C			54721117	-1			no_errors	ENST00000264775	ensembl	human	known	74_37	nonsense	9.52	19	2	SNP	1.000	A
PPFIA3	8541	genome.wustl.edu	37	19	49637913	49637913	+	Missense_Mutation	SNP	G	G	T			TCGA-R6-A6L4-01A-11D-A31U-09	TCGA-R6-A6L4-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	73e30098-463c-4d83-b6f7-dcc43fad6592	3fc2bd45-8cf9-420d-b900-a0fee703731d	g.chr19:49637913G>T	ENST00000334186.4	+	12	1744	c.1395G>T	c.(1393-1395)gaG>gaT	p.E465D	PPFIA3_ENST00000602351.1_Missense_Mutation_p.E465D	NM_003660.2	NP_003651.1	O75145	LIPA3_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 3	465					cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|presynaptic active zone (GO:0048786)		p.E465D(1)		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)		TGAGCGAGGAGATAGCCAACA	0.602																																																	1	Substitution - Missense(1)	lung(1)											139.0	130.0	133.0					19																	49637913		2203	4300	6503	SO:0001583	missense	0			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.1395G>T	19.37:g.49637913G>T	ENSP00000335614:p.Glu465Asp		A8K142|Q3MJA0|Q9H8B5|Q9UEW4	Missense_Mutation	SNP	pfam_SAM_2,pfam_SAM_type1,superfamily_SAM/pointed,smart_SAM,pfscan_SAM	p.E465D	ENST00000334186.4	37	c.1395	CCDS12758.1	19	.	.	.	.	.	.	.	.	.	.	G	16.09	3.024981	0.54683	.	.	ENSG00000177380	ENST00000334186;ENST00000421230	T	0.25414	1.8	3.4	2.36	0.29203	.	0.000000	0.42682	U	0.000674	T	0.32496	0.0831	L	0.54323	1.7	0.44417	D	0.99733	P;B;P	0.47545	0.458;0.022;0.897	B;B;P	0.54924	0.129;0.045;0.764	T	0.04664	-1.0935	10	0.54805	T	0.06	-16.3752	5.3213	0.15883	0.3508:0.0:0.6492:0.0	.	389;465;465	B4DEU8;O75145-2;O75145	.;.;LIPA3_HUMAN	D	465;389	ENSP00000335614:E465D	ENSP00000335614:E465D	E	+	3	2	PPFIA3	54329725	1.000000	0.71417	0.999000	0.59377	0.834000	0.47266	3.024000	0.49674	0.779000	0.33543	0.557000	0.71058	GAG	PPFIA3	-	NULL	ENSG00000177380		0.602	PPFIA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPFIA3	HGNC	protein_coding	OTTHUMT00000465688.1		0.00	55	0	G	NM_003660		49637913	+1			no_errors	ENST00000334186	ensembl	human	known	74_37	missense	5.56	34	2	SNP	1.000	T
PPP1R16B	26051	genome.wustl.edu	37	20	37546851	37546851	+	Missense_Mutation	SNP	C	C	A			TCGA-R6-A6L4-01A-11D-A31U-09	TCGA-R6-A6L4-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	73e30098-463c-4d83-b6f7-dcc43fad6592	3fc2bd45-8cf9-420d-b900-a0fee703731d	g.chr20:37546851C>A	ENST00000299824.1	+	11	1435	c.1246C>A	c.(1246-1248)Cca>Aca	p.P416T	PPP1R16B_ENST00000373331.2_Missense_Mutation_p.P374T	NM_015568.2	NP_056383.1	Q96T49	PP16B_HUMAN	protein phosphatase 1, regulatory subunit 16B	416					regulation of filopodium assembly (GO:0051489)|signal transduction (GO:0007165)	nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein phosphatase binding (GO:0019903)			biliary_tract(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(23)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	49		Myeloproliferative disorder(115;0.00878)				TACCAAGATCCCACGAGGTGA	0.567																																																	0													140.0	144.0	142.0					20																	37546851		2203	4300	6503	SO:0001583	missense	0			AB020630	CCDS13309.1, CCDS54462.1	20q11.23	2013-01-10	2011-10-04		ENSG00000101445	ENSG00000101445		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Ankyrin repeat domain containing"""	15850	protein-coding gene	gene with protein product	"""TGF-beta-inhibited membrane-associated protein"", ""ankyrin repeat domain protein 4"""	613275	"""protein phosphatase 1, regulatory (inhibitor) subunit 16B"""			10048485, 12055102	Standard	NM_001172735		Approved	KIAA0823, TIMAP, ANKRD4	uc002xje.3	Q96T49	OTTHUMG00000032465	ENST00000299824.1:c.1246C>A	20.37:g.37546851C>A	ENSP00000299824:p.Pro416Thr		A2RRR6|E9PFS8|O94912|Q5W9G4|Q9NQG4	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pirsf_Pase-1_reg_su_16AB_euk,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	p.P416T	ENST00000299824.1	37	c.1246	CCDS13309.1	20	.	.	.	.	.	.	.	.	.	.	C	6.865	0.528886	0.13127	.	.	ENSG00000101445	ENST00000299824;ENST00000373331	T;T	0.68765	-0.16;-0.35	5.44	1.78	0.24846	.	0.107299	0.64402	D	0.000007	T	0.23210	0.0561	N	0.00707	-1.245	0.20926	N	0.999822	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.17018	-1.0383	10	0.10377	T	0.69	.	0.7287	0.00953	0.4095:0.2732:0.1425:0.1748	.	374;416	E9PFS8;Q96T49	.;PP16B_HUMAN	T	416;374	ENSP00000299824:P416T;ENSP00000362428:P374T	ENSP00000299824:P416T	P	+	1	0	PPP1R16B	36980265	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	2.511000	0.45476	0.452000	0.26830	0.655000	0.94253	CCA	PPP1R16B	-	pirsf_Pase-1_reg_su_16AB_euk	ENSG00000101445		0.567	PPP1R16B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PPP1R16B	HGNC	protein_coding	OTTHUMT00000079220.2		0.00	41	0	C	NM_015568		37546851	+1			no_errors	ENST00000299824	ensembl	human	known	74_37	missense	36.59	26	15	SNP	1.000	A
PRAMEF22	653606	genome.wustl.edu	37	1	13036521	13036521	+	Missense_Mutation	SNP	G	G	T			TCGA-R6-A6L4-01A-11D-A31U-09	TCGA-R6-A6L4-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	73e30098-463c-4d83-b6f7-dcc43fad6592	3fc2bd45-8cf9-420d-b900-a0fee703731d	g.chr1:13036521G>T	ENST00000376187.1	+	2	593	c.593G>T	c.(592-594)aGa>aTa	p.R198I	PRAMEF6_ENST00000376192.5_Intron	NM_001100631.1	NP_001094101.1	A3QJZ6	PRA22_HUMAN	PRAME family member 22	198					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)					kidney(1)|large_intestine(2)|lung(1)|skin(1)	5						CTAAATTTCAGAAACATATTG	0.433																																																	0													1.0	1.0	1.0					1																	13036521		681	1612	2293	SO:0001583	missense	0					1p36.21	2013-01-17			ENSG00000204508			"""-"""	34393	protein-coding gene	gene with protein product							Standard	NM_001100631		Approved	PRAMEF3L	uc009vnq.1	A3QJZ6	OTTHUMG00000074726	ENST00000376187.1:c.593G>T	1.37:g.13036521G>T	ENSP00000365358:p.Arg198Ile		A6NMM3	Missense_Mutation	SNP	NULL	p.R198I	ENST00000376187.1	37	c.593	CCDS41256.1	1	.	.	.	.	.	.	.	.	.	.	.	5.002	0.186155	0.09495	.	.	ENSG00000204508	ENST00000376187	T	0.16743	2.32	1.18	-1.04	0.10068	.	1.949630	0.02320	N	0.072922	T	0.21347	0.0514	L	0.28458	0.855	0.09310	N	1	D	0.65815	0.995	D	0.63793	0.918	T	0.42932	-0.9422	10	0.07175	T	0.84	.	4.4896	0.11806	0.0:0.0:0.5055:0.4945	.	198	A3QJZ6	PRA22_HUMAN	I	198	ENSP00000365358:R198I	ENSP00000365358:R198I	R	+	2	0	PRAMEF22	12959108	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	-0.581000	0.05820	-0.214000	0.10078	0.194000	0.17425	AGA	PRAMEF22	-	NULL	ENSG00000204508		0.433	PRAMEF22-001	KNOWN	mRNA_start_NF|mRNA_end_NF|cds_end_NF|basic|appris_principal|CCDS	protein_coding	PRAMEF22	HGNC	protein_coding	OTTHUMT00000158511.1		0.00	143	0	G	NM_001100631		13036521	+1			no_errors	ENST00000376187	ensembl	human	known	74_37	missense	12.39	99	14	SNP	0.000	T
PRPF40B	25766	genome.wustl.edu	37	12	50037935	50037935	+	Missense_Mutation	SNP	G	G	A	rs367928140		TCGA-R6-A6L4-01A-11D-A31U-09	TCGA-R6-A6L4-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	73e30098-463c-4d83-b6f7-dcc43fad6592	3fc2bd45-8cf9-420d-b900-a0fee703731d	g.chr12:50037935G>A	ENST00000380281.1	+	25	2640	c.2576G>A	c.(2575-2577)cGg>cAg	p.R859Q	FMNL3_ENST00000335154.5_3'UTR|PRPF40B_ENST00000261897.1_Missense_Mutation_p.R846Q|PRPF40B_ENST00000548825.2_Missense_Mutation_p.R880Q			Q6NWY9	PR40B_HUMAN	PRP40 pre-mRNA processing factor 40 homolog B (S. cerevisiae)	859					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)				breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	34						CTGGAGAGGCGGCGGCGGACA	0.602											OREG0021798	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0								G	GLN/ARG,GLN/ARG,,	0,4406		0,0,2203	143.0	114.0	123.0		2576,2537,,	4.0	1.0	12		123	2,8598	2.2+/-6.3	0,2,4298	no	missense,missense,utr-3,utr-3	PRPF40B,FMNL3	NM_001031698.1,NM_012272.1,NM_175736.4,NM_198900.2	43,43,,	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	possibly-damaging,possibly-damaging,,	859/872,846/859,,	50037935	2,13004	2203	4300	6503	SO:0001583	missense	0			AF049525	CCDS31796.1, CCDS31796.2	12q13.12	2014-09-17	2006-04-04			ENSG00000110844			25031	protein-coding gene	gene with protein product	"""Huntingtin interacting protein C"""		"""PRP40 pre-mRNA processing factor 40 homolog B (yeast)"""			9700202	Standard	NM_001031698		Approved	HYPC	uc001rus.2	Q6NWY9		ENST00000380281.1:c.2576G>A	12.37:g.50037935G>A	ENSP00000369634:p.Arg859Gln	966	O75401|Q6PI09|Q6ZWB3|Q8NCZ1|Q9H5G4|Q9NT95	Missense_Mutation	SNP	pfam_FF_domain,pfam_WW_dom,superfamily_FF_domain,superfamily_WW_dom,smart_WW_dom,smart_FF_domain,pfscan_WW_dom	p.R880Q	ENST00000380281.1	37	c.2639		12	.	.	.	.	.	.	.	.	.	.	G	19.61	3.859286	0.71834	0.0	2.33E-4	ENSG00000110844	ENST00000261897;ENST00000380281	T;T	0.29142	1.59;1.58	4.86	3.97	0.46021	.	0.096849	0.43416	D	0.000574	T	0.18130	0.0435	L	0.29908	0.895	0.80722	D	1	B;B	0.34181	0.313;0.44	B;B	0.22753	0.018;0.041	T	0.05784	-1.0864	10	0.39692	T	0.17	-16.694	9.0929	0.36621	0.1711:0.0:0.8289:0.0	.	859;846	Q6NWY9;Q6NWY9-2	PR40B_HUMAN;.	Q	846;859	ENSP00000261897:R846Q;ENSP00000369634:R859Q	ENSP00000261897:R846Q	R	+	2	0	PRPF40B	48324202	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	4.955000	0.63638	1.418000	0.47098	0.561000	0.74099	CGG	PRPF40B	-	NULL	ENSG00000110844		0.602	PRPF40B-001	KNOWN	basic	protein_coding	PRPF40B	HGNC	protein_coding	OTTHUMT00000404838.1		0.00	14	0	G	NM_012272		50037935	+1			no_errors	ENST00000548825	ensembl	human	known	74_37	missense	50.00	3	3	SNP	1.000	A
PTGES2	80142	genome.wustl.edu	37	9	130885294	130885294	+	Missense_Mutation	SNP	T	T	G	rs141329933		TCGA-R6-A6L4-01A-11D-A31U-09	TCGA-R6-A6L4-10A-01D-A31U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	73e30098-463c-4d83-b6f7-dcc43fad6592	3fc2bd45-8cf9-420d-b900-a0fee703731d	g.chr9:130885294T>G	ENST00000338961.6	-	5	1550	c.806A>C	c.(805-807)aAg>aCg	p.K269T	PTGES2_ENST00000277462.5_Missense_Mutation_p.K78T|PTGES2_ENST00000483625.1_5'UTR	NM_001256335.1|NM_025072.6	NP_001243264.1|NP_079348.1	Q9H7Z7	PGES2_HUMAN	prostaglandin E synthase 2	269	GST C-terminal.				cell redox homeostasis (GO:0045454)|positive regulation of transcription, DNA-templated (GO:0045893)|prostaglandin biosynthetic process (GO:0001516)|secretion (GO:0046903)	cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	DNA binding (GO:0003677)|electron carrier activity (GO:0009055)|glutathione binding (GO:0043295)|heme binding (GO:0020037)|lyase activity (GO:0016829)|prostaglandin-E synthase activity (GO:0050220)|protein disulfide oxidoreductase activity (GO:0015035)			endometrium(1)|large_intestine(1)|lung(2)	4						GGCTCCGAACTTGCCCTCGCG	0.617																																																	0													98.0	82.0	87.0					9																	130885294		2203	4300	6503	SO:0001583	missense	0			AK024100	CCDS6891.1	9q34.12	2008-05-06	2002-06-13	2002-06-14	ENSG00000148334	ENSG00000148334			17822	protein-coding gene	gene with protein product		608152	"""chromosome 9 open reading frame 15"""	C9orf15		11866447	Standard	NM_025072		Approved	FLJ14038	uc004bti.4	Q9H7Z7	OTTHUMG00000020730	ENST00000338961.6:c.806A>C	9.37:g.130885294T>G	ENSP00000345341:p.Lys269Thr		Q53EW9|Q5SYV6|Q96GI0|Q96GL2	Missense_Mutation	SNP	pfam_Glutaredoxin,pfam_GST_C,superfamily_Glutathione-S-Trfase_C-like,superfamily_Thioredoxin-like_fold	p.K269T	ENST00000338961.6	37	c.806	CCDS6891.1	9	.	.	.	.	.	.	.	.	.	.	T	16.68	3.189433	0.57909	.	.	ENSG00000148334	ENST00000338961;ENST00000277462;ENST00000449878	T;T;T	0.42513	0.97;0.97;0.97	5.42	4.29	0.51040	Glutathione S-transferase, C-terminal-like (1);Glutathione S-transferase/chloride channel, C-terminal (1);	0.090855	0.85682	D	0.000000	T	0.32852	0.0843	L	0.55103	1.725	0.49483	D	0.999792	B	0.30686	0.29	B	0.23574	0.047	T	0.06826	-1.0805	10	0.15066	T	0.55	-0.0076	10.0812	0.42391	0.0:0.0784:0.0:0.9216	.	269	Q9H7Z7	PGES2_HUMAN	T	269;78;234	ENSP00000345341:K269T;ENSP00000277462:K78T;ENSP00000411378:K234T	ENSP00000277462:K78T	K	-	2	0	PTGES2	129925115	1.000000	0.71417	1.000000	0.80357	0.902000	0.53008	4.831000	0.62752	0.917000	0.36895	0.459000	0.35465	AAG	PTGES2	-	superfamily_Glutathione-S-Trfase_C-like	ENSG00000148334		0.617	PTGES2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTGES2	HGNC	protein_coding	OTTHUMT00000054339.1		0.00	46	0	T			130885294	-1			no_errors	ENST00000338961	ensembl	human	known	74_37	missense	41.86	25	18	SNP	1.000	G
PTPRG	5793	genome.wustl.edu	37	3	62188912	62188912	+	Silent	SNP	G	G	A	rs544886184		TCGA-R6-A6L4-01A-11D-A31U-09	TCGA-R6-A6L4-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	73e30098-463c-4d83-b6f7-dcc43fad6592	3fc2bd45-8cf9-420d-b900-a0fee703731d	g.chr3:62188912G>A	ENST00000474889.1	+	12	1820	c.1443G>A	c.(1441-1443)acG>acA	p.T481T	PTPRG_ENST00000295874.10_Silent_p.T481T	NM_002841.3	NP_002832.3	P23470	PTPRG_HUMAN	protein tyrosine phosphatase, receptor type, G	481					brain development (GO:0007420)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of neuron projection development (GO:0010977)|peptidyl-tyrosine dephosphorylation (GO:0035335)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	identical protein binding (GO:0042802)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|liver(2)|lung(15)|ovary(7)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	62				BRCA - Breast invasive adenocarcinoma(55;0.000376)|KIRC - Kidney renal clear cell carcinoma(10;0.0499)|Kidney(10;0.065)		CTACCTGGACGTCCTCTGGCA	0.627																																																	0													94.0	102.0	99.0					3																	62188912		2203	4300	6503	SO:0001819	synonymous_variant	0			L09247	CCDS2895.1	3p21-p14	2013-02-11			ENSG00000144724	ENSG00000144724		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9671	protein-coding gene	gene with protein product		176886		PTPG		1711217	Standard	NM_002841		Approved	RPTPG	uc003dlb.3	P23470	OTTHUMG00000158660	ENST00000474889.1:c.1443G>A	3.37:g.62188912G>A			B2RU12|B7ZLX5|Q15623|Q59EE0|Q68DU5	Silent	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,pfam_Carbonic_anhydrase_a,pfam_Fibronectin_type3,superfamily_Carbonic_anhydrase_a,superfamily_Fibronectin_type3,smart_Fibronectin_type3,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pfscan_Fibronectin_type3,pfscan_Tyr/Dual-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,pfscan_Carbonic_anhydrase_a,prints_Tyr_Pase_rcpt/non-rcpt	p.T481	ENST00000474889.1	37	c.1443	CCDS2895.1	3																																																																																			PTPRG	-	NULL	ENSG00000144724		0.627	PTPRG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPRG	HGNC	protein_coding	OTTHUMT00000351674.1		0.00	32	0	G	NM_002841		62188912	+1			no_errors	ENST00000474889	ensembl	human	known	74_37	silent	31.82	15	7	SNP	0.991	A
PTPRU	10076	genome.wustl.edu	37	1	29611333	29611333	+	Missense_Mutation	SNP	C	C	T			TCGA-R6-A6L4-01A-11D-A31U-09	TCGA-R6-A6L4-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	73e30098-463c-4d83-b6f7-dcc43fad6592	3fc2bd45-8cf9-420d-b900-a0fee703731d	g.chr1:29611333C>T	ENST00000345512.3	+	14	2399	c.2270C>T	c.(2269-2271)gCt>gTt	p.A757V	PTPRU_ENST00000428026.2_Missense_Mutation_p.A757V|PTPRU_ENST00000356870.3_Missense_Mutation_p.A757V|PTPRU_ENST00000460170.2_Missense_Mutation_p.A757V|PTPRU_ENST00000415600.2_3'UTR|PTPRU_ENST00000373779.3_Missense_Mutation_p.A757V|PTPRU_ENST00000323874.8_Missense_Mutation_p.A757V	NM_005704.4	NP_005695.3	Q92729	PTPRU_HUMAN	protein tyrosine phosphatase, receptor type, U	757					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)		GGGGGGCTTGCTGTCCTCATC	0.612																																																	0													98.0	85.0	90.0					1																	29611333		2203	4300	6503	SO:0001583	missense	0			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.2270C>T	1.37:g.29611333C>T	ENSP00000334941:p.Ala757Val		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-sp_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt,prints_MAM_dom	p.A757V	ENST00000345512.3	37	c.2270	CCDS334.1	1	.	.	.	.	.	.	.	.	.	.	C	6.933	0.541806	0.13250	.	.	ENSG00000060656	ENST00000345512;ENST00000373779;ENST00000356870;ENST00000323874;ENST00000428026;ENST00000460170	T;T;T;T;T;T	0.28454	1.62;1.67;1.67;1.67;1.61;1.67	5.21	4.19	0.49359	.	0.071468	0.56097	D	0.000028	T	0.07728	0.0194	N	0.00841	-1.15	0.30957	N	0.724073	B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0	B;B;B;B;B	0.06405	0.002;0.002;0.002;0.001;0.001	T	0.20505	-1.0273	9	.	.	.	.	4.4683	0.11700	0.0:0.7741:0.0:0.2259	.	757;757;757;757;757	Q92729-3;Q92729-4;Q92729-2;E9PH42;Q92729	.;.;.;.;PTPRU_HUMAN	V	757	ENSP00000334941:A757V;ENSP00000362884:A757V;ENSP00000349333:A757V;ENSP00000314987:A757V;ENSP00000392332:A757V;ENSP00000432906:A757V	.	A	+	2	0	PTPRU	29483920	0.996000	0.38824	0.997000	0.53966	0.997000	0.91878	2.871000	0.48459	2.422000	0.82143	0.542000	0.68232	GCT	PTPRU	-	NULL	ENSG00000060656		0.612	PTPRU-003	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPRU	HGNC	protein_coding	OTTHUMT00000010447.1		0.00	68	0	C			29611333	+1			no_errors	ENST00000345512	ensembl	human	known	74_37	missense	8.89	41	4	SNP	0.991	T
PYHIN1	149628	genome.wustl.edu	37	1	158906935	158906935	+	Missense_Mutation	SNP	G	G	T			TCGA-R6-A6L4-01A-11D-A31U-09	TCGA-R6-A6L4-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	73e30098-463c-4d83-b6f7-dcc43fad6592	3fc2bd45-8cf9-420d-b900-a0fee703731d	g.chr1:158906935G>T	ENST00000368140.1	+	2	480	c.235G>T	c.(235-237)Gct>Tct	p.A79S	PYHIN1_ENST00000392252.3_Missense_Mutation_p.A79S|PYHIN1_ENST00000368138.3_Missense_Mutation_p.A79S|PYHIN1_ENST00000392254.2_Missense_Mutation_p.A79S|PYHIN1_ENST00000368135.4_Missense_Mutation_p.A79S	NM_152501.4|NM_198928.4|NM_198929.4	NP_689714.2|NP_945146.1|NP_945147.1	Q6K0P9	IFIX_HUMAN	pyrin and HIN domain family, member 1	79	DAPIN. {ECO:0000255|PROSITE- ProRule:PRU00061}.				cell cycle (GO:0007049)	nucleus (GO:0005634)				breast(2)|endometrium(3)|large_intestine(10)|lung(32)|ovary(3)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(112;0.0378)					GGGAGACCTTGCTGAAACTCT	0.438																																																	0													54.0	56.0	55.0					1																	158906935		2203	4300	6503	SO:0001583	missense	0			AY185344	CCDS1178.1, CCDS1179.1, CCDS30907.1, CCDS30908.1	1q23.1	2008-02-05			ENSG00000163564	ENSG00000163564			28894	protein-coding gene	gene with protein product		612677				15122330	Standard	NM_152501		Approved	IFIX, MGC23885	uc001ftb.3	Q6K0P9	OTTHUMG00000037109	ENST00000368140.1:c.235G>T	1.37:g.158906935G>T	ENSP00000357122:p.Ala79Ser		Q5T3W6|Q6K0P6|Q6K0P7|Q6K0P8|Q8WW65	Missense_Mutation	SNP	pfam_HIN200/IF120x,pfam_DAPIN,superfamily_DEATH-like_dom,pfscan_DAPIN,pfscan_HIN200/IF120x	p.A79S	ENST00000368140.1	37	c.235	CCDS1178.1	1	.	.	.	.	.	.	.	.	.	.	G	13.07	2.126004	0.37533	.	.	ENSG00000163564	ENST00000458222;ENST00000368140;ENST00000368138;ENST00000392254;ENST00000392252;ENST00000368135	T;T;T;T;T;T	0.56444	0.46;0.46;0.46;0.46;0.46;0.46	2.83	1.88	0.25563	Pyrin (2);	.	.	.	.	T	0.50820	0.1638	M	0.64404	1.975	0.09310	N	1	D;D;D;D;D	0.67145	0.99;0.995;0.99;0.996;0.99	D;D;D;D;P	0.71870	0.921;0.966;0.921;0.975;0.878	T	0.33189	-0.9878	9	0.72032	D	0.01	.	6.9845	0.24721	0.0:0.0:0.7274:0.2725	.	79;79;79;79;79	Q6K0P9-4;Q6K0P9-3;Q6K0P9-2;Q6K0P9;Q6K0P9-5	.;.;.;IFIX_HUMAN;.	S	79	ENSP00000407616:A79S;ENSP00000357122:A79S;ENSP00000357120:A79S;ENSP00000376083:A79S;ENSP00000376082:A79S;ENSP00000357117:A79S	ENSP00000357117:A79S	A	+	1	0	PYHIN1	157173559	0.000000	0.05858	0.001000	0.08648	0.009000	0.06853	0.184000	0.16939	0.488000	0.27723	0.563000	0.77884	GCT	PYHIN1	-	pfam_DAPIN,superfamily_DEATH-like_dom,pfscan_DAPIN	ENSG00000163564		0.438	PYHIN1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PYHIN1	HGNC	protein_coding	OTTHUMT00000090110.1		0.00	50	0	G	NM_152501		158906935	+1			no_errors	ENST00000368140	ensembl	human	known	74_37	missense	24.14	22	7	SNP	0.002	T
RAB27A	5873	genome.wustl.edu	37	15	55497769	55497769	+	Nonsense_Mutation	SNP	G	G	C			TCGA-R6-A6L4-01A-11D-A31U-09	TCGA-R6-A6L4-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	73e30098-463c-4d83-b6f7-dcc43fad6592	3fc2bd45-8cf9-420d-b900-a0fee703731d	g.chr15:55497769G>C	ENST00000396307.2	-	6	853	c.602C>G	c.(601-603)tCa>tGa	p.S201*	RAB27A_ENST00000564609.1_Nonsense_Mutation_p.S201*|RAB27A_ENST00000336787.1_Nonsense_Mutation_p.S201*|RAB27A_ENST00000569493.1_Nonsense_Mutation_p.S201*	NM_004580.4	NP_004571.2	P51159	RB27A_HUMAN	RAB27A, member RAS oncogene family	201					antigen processing and presentation (GO:0019882)|blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|cytotoxic T cell degranulation (GO:0043316)|exocytosis (GO:0006887)|exosomal secretion (GO:1990182)|melanocyte differentiation (GO:0030318)|melanosome transport (GO:0032402)|multivesicular body organization (GO:0036257)|multivesicular body sorting pathway (GO:0071985)|natural killer cell degranulation (GO:0043320)|positive regulation of exocytosis (GO:0045921)|positive regulation of gene expression (GO:0010628)|protein targeting (GO:0006605)|small GTPase mediated signal transduction (GO:0007264)|synaptic vesicle transport (GO:0048489)	apical plasma membrane (GO:0016324)|dendrite (GO:0030425)|exocytic vesicle (GO:0070382)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|late endosome (GO:0005770)|lysosome (GO:0005764)|melanosome (GO:0042470)|multivesicular body membrane (GO:0032585)|photoreceptor outer segment (GO:0001750)|secretory granule membrane (GO:0030667)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)			endometrium(1)|large_intestine(2)|liver(1)|lung(3)|ovary(1)|skin(1)	9				all cancers(107;0.0273)|GBM - Glioblastoma multiforme(80;0.0993)		ATGACCATTTGATCGCACCAC	0.473																																																	0													386.0	322.0	344.0					15																	55497769		2193	4292	6485	SO:0001587	stop_gained	0			U38654	CCDS10153.1	15q15-q21.1	2014-09-17			ENSG00000069974	ENSG00000069974		"""RAB, member RAS oncogene"""	9766	protein-coding gene	gene with protein product		603868				7592656	Standard	NM_183235		Approved	RAB27, RAM, GS2, HsT18676	uc002acq.3	P51159	OTTHUMG00000131959	ENST00000396307.2:c.602C>G	15.37:g.55497769G>C	ENSP00000379601:p.Ser201*		O00195|Q6FI40|Q9UIR9|Q9Y5U3	Nonsense_Mutation	SNP	pfam_Small_GTPase,pfam_MIRO-like,pfam_Small_GTPase_ARF/SAR,pfam_EF_GTP-bd_dom,superfamily_P-loop_NTPase,smart_Small_GTPase_Rab_type,smart_Small_GTPase_Ras,smart_Small_GTPase_Rho,smart_Ran_GTPase,prints_Small_GTPase,tigrfam_Small_GTP-bd_dom	p.S201*	ENST00000396307.2	37	c.602	CCDS10153.1	15	.	.	.	.	.	.	.	.	.	.	G	25.7	4.669790	0.88348	.	.	ENSG00000069974	ENST00000396307;ENST00000396304;ENST00000336787	.	.	.	4.96	4.96	0.65561	.	0.475945	0.24722	N	0.036129	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.27785	T	0.31	-3.8429	17.3827	0.87408	0.0:0.0:1.0:0.0	.	.	.	.	X	201;193;201	.	ENSP00000337761:S201X	S	-	2	0	RAB27A	53285061	1.000000	0.71417	0.987000	0.45799	0.965000	0.64279	4.908000	0.63307	2.585000	0.87301	0.655000	0.94253	TCA	RAB27A	-	superfamily_P-loop_NTPase,smart_Ran_GTPase	ENSG00000069974		0.473	RAB27A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RAB27A	HGNC	protein_coding	OTTHUMT00000254918.1		0.00	67	0	G	NM_004580, NM_183236		55497769	-1			no_errors	ENST00000336787	ensembl	human	known	74_37	nonsense	50.00	21	21	SNP	0.913	C
RANGAP1	5905	genome.wustl.edu	37	22	41650402	41650402	+	Silent	SNP	C	C	T			TCGA-R6-A6L4-01A-11D-A31U-09	TCGA-R6-A6L4-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	73e30098-463c-4d83-b6f7-dcc43fad6592	3fc2bd45-8cf9-420d-b900-a0fee703731d	g.chr22:41650402C>T	ENST00000455915.2	-	10	2639	c.1170G>A	c.(1168-1170)gaG>gaA	p.E390E	RANGAP1_ENST00000356244.3_Silent_p.E390E|RANGAP1_ENST00000407260.4_Silent_p.E335E|RANGAP1_ENST00000405486.1_Silent_p.E390E			P46060	RAGP1_HUMAN	Ran GTPase activating protein 1	390	Asp/Glu-rich (highly acidic).				mitotic cell cycle (GO:0000278)|negative regulation of protein export from nucleus (GO:0046826)|positive regulation of Ran GTPase activity (GO:0032853)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|kinetochore (GO:0000776)|nuclear pore (GO:0005643)|perinuclear region of cytoplasm (GO:0048471)	Ran GTPase activator activity (GO:0005098)	p.E390E(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						cctcctcctcctcttcttcct	0.562																																																	1	Substitution - coding silent(1)	kidney(1)											233.0	159.0	184.0					22																	41650402		2203	4300	6503	SO:0001819	synonymous_variant	0			X82260	CCDS14012.1	22q13	2013-01-17			ENSG00000100401	ENSG00000100401			9854	protein-coding gene	gene with protein product		602362	"""segregation distorter homolog (Drosophila)"""	SD		7878053	Standard	NM_002883		Approved	Fug1, KIAA1835	uc003azu.3	P46060	OTTHUMG00000150940	ENST00000455915.2:c.1170G>A	22.37:g.41650402C>T			Q96JJ2	Silent	SNP	pfam_Ran_GTPase_activating_1_C,superfamily_Ran_GTPase_activating_1_C,smart_Leu-rich_rpt_RNase_inh_sub-typ	p.E390	ENST00000455915.2	37	c.1170	CCDS14012.1	22																																																																																			RANGAP1	-	NULL	ENSG00000100401		0.562	RANGAP1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	RANGAP1	HGNC	protein_coding	OTTHUMT00000320606.1		0.00	44	0	C	NM_002883		41650402	-1			no_errors	ENST00000356244	ensembl	human	known	74_37	silent	7.14	26	2	SNP	0.781	T
RBBP8NL	140893	genome.wustl.edu	37	20	60990853	60990853	+	Missense_Mutation	SNP	G	G	A			TCGA-R6-A6L4-01A-11D-A31U-09	TCGA-R6-A6L4-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	73e30098-463c-4d83-b6f7-dcc43fad6592	3fc2bd45-8cf9-420d-b900-a0fee703731d	g.chr20:60990853G>A	ENST00000252998.1	-	7	691	c.535C>T	c.(535-537)Cgg>Tgg	p.R179W		NM_080833.2	NP_543023.2	Q8NC74	RB8NL_HUMAN	RBBP8 N-terminal like	179						extracellular space (GO:0005615)											CCTTCTCCCCGTAGGCCCACG	0.716																																																	0													33.0	36.0	35.0					20																	60990853		2202	4299	6501	SO:0001583	missense	0			AL121832	CCDS13498.1	20q13.33	2012-10-30	2012-10-30	2012-10-30	ENSG00000130701	ENSG00000130701			16144	protein-coding gene	gene with protein product	"""hypothetical protein LOC140893"""		"""chromosome 20 open reading frame 151"""	C20orf151		11780052	Standard	NM_080833		Approved	dJ908M14.3	uc002ycw.2	Q8NC74	OTTHUMG00000032913	ENST00000252998.1:c.535C>T	20.37:g.60990853G>A	ENSP00000252998:p.Arg179Trp		B2RP98|Q8N4Z9|Q9BR75|Q9H0Y9	Missense_Mutation	SNP	pfam_CtIP_N	p.R179W	ENST00000252998.1	37	c.535	CCDS13498.1	20	.	.	.	.	.	.	.	.	.	.	G	9.929	1.214210	0.22289	.	.	ENSG00000130701	ENST00000252998	T	0.18810	2.19	3.68	-3.86	0.04230	.	2.806820	0.01602	N	0.022102	T	0.15219	0.0367	L	0.29908	0.895	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.29305	-1.0016	10	0.56958	D	0.05	.	5.5155	0.16904	0.5599:0.0:0.2939:0.1462	.	179	Q8NC74	CT151_HUMAN	W	179	ENSP00000252998:R179W	ENSP00000252998:R179W	R	-	1	2	C20orf151	60424248	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.234000	0.09028	-0.927000	0.03766	-0.390000	0.06520	CGG	RBBP8NL	-	NULL	ENSG00000130701		0.716	RBBP8NL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RBBP8NL	HGNC	protein_coding	OTTHUMT00000080029.1		0.00	21	0	G	NM_080833		60990853	-1			no_errors	ENST00000252998	ensembl	human	known	74_37	missense	7.41	25	2	SNP	0.000	A
RBM12B	389677	genome.wustl.edu	37	8	94745658	94745658	+	Missense_Mutation	SNP	C	C	A			TCGA-R6-A6L4-01A-11D-A31U-09	TCGA-R6-A6L4-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	73e30098-463c-4d83-b6f7-dcc43fad6592	3fc2bd45-8cf9-420d-b900-a0fee703731d	g.chr8:94745658C>A	ENST00000399300.2	-	3	3194	c.2981G>T	c.(2980-2982)cGa>cTa	p.R994L	RBM12B_ENST00000517700.1_Missense_Mutation_p.R874L|RBM12B_ENST00000520961.1_Intron|RP11-10N23.4_ENST00000517998.1_RNA	NM_203390.2	NP_976324.2	Q8IXT5	RB12B_HUMAN	RNA binding motif protein 12B	994	RRM 4. {ECO:0000255|PROSITE- ProRule:PRU00176}.						nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.R994Q(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	30	Breast(36;4.14e-07)		BRCA - Breast invasive adenocarcinoma(8;0.0168)			CTTAACTTTTCGGGGCCCAAC	0.368																																																	1	Substitution - Missense(1)	large_intestine(1)											40.0	38.0	39.0					8																	94745658		1811	4084	5895	SO:0001583	missense	0				CCDS43755.1	8q22	2014-05-20			ENSG00000183808	ENSG00000183808		"""RNA binding motif (RRM) containing"""	32310	protein-coding gene	gene with protein product							Standard	NM_203390		Approved		uc003yfz.3	Q8IXT5	OTTHUMG00000164317	ENST00000399300.2:c.2981G>T	8.37:g.94745658C>A	ENSP00000382239:p.Arg994Leu		A8MYB5	Missense_Mutation	SNP	pfam_RRM_dom,smart_RRM_dom,pfscan_RRM_dom	p.R994L	ENST00000399300.2	37	c.2981	CCDS43755.1	8	.	.	.	.	.	.	.	.	.	.	C	23.8	4.461629	0.84425	.	.	ENSG00000183808	ENST00000399300;ENST00000517700	T;T	0.13196	2.61;2.61	5.44	5.44	0.79542	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (2);	0.673599	0.14098	N	0.341596	T	0.50343	0.1610	M	0.91249	3.19	0.42188	D	0.991718	D	0.89917	1.0	D	0.97110	1.0	T	0.58967	-0.7542	10	0.87932	D	0	-0.5895	19.2621	0.93971	0.0:1.0:0.0:0.0	.	994	Q8IXT5	RB12B_HUMAN	L	994;874	ENSP00000382239:R994L;ENSP00000427729:R874L	ENSP00000382239:R994L	R	-	2	0	RBM12B	94814834	1.000000	0.71417	0.988000	0.46212	0.811000	0.45836	7.487000	0.81328	2.555000	0.86185	0.563000	0.77884	CGA	RBM12B	-	smart_RRM_dom,pfscan_RRM_dom	ENSG00000183808		0.368	RBM12B-007	KNOWN	basic|appris_principal|CCDS	protein_coding	RBM12B	HGNC	protein_coding	OTTHUMT00000383603.1		0.00	69	0	C	NM_203390		94745658	-1			no_errors	ENST00000399300	ensembl	human	known	74_37	missense	6.90	27	2	SNP	1.000	A
RELN	5649	genome.wustl.edu	37	7	103180780	103180780	+	Missense_Mutation	SNP	A	A	G			TCGA-R6-A6L4-01A-11D-A31U-09	TCGA-R6-A6L4-10A-01D-A31U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	73e30098-463c-4d83-b6f7-dcc43fad6592	3fc2bd45-8cf9-420d-b900-a0fee703731d	g.chr7:103180780A>G	ENST00000428762.1	-	44	6953	c.6794T>C	c.(6793-6795)cTt>cCt	p.L2265P	RELN_ENST00000424685.2_Missense_Mutation_p.L2265P|RELN_ENST00000343529.5_Missense_Mutation_p.L2265P	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin	2265					associative learning (GO:0008306)|axon guidance (GO:0007411)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|central nervous system development (GO:0007417)|cerebral cortex tangential migration (GO:0021800)|dendrite development (GO:0016358)|glial cell differentiation (GO:0010001)|hippocampus development (GO:0021766)|lateral motor column neuron migration (GO:0097477)|layer formation in cerebral cortex (GO:0021819)|long-term memory (GO:0007616)|N-methyl-D-aspartate receptor clustering (GO:0097114)|neuron migration (GO:0001764)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of lateral motor column neuron migration (GO:1902078)|positive regulation of long-term synaptic potentiation (GO:1900273)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of TOR signaling (GO:0032008)|postsynaptic density protein 95 clustering (GO:0097119)|receptor localization to synapse (GO:0097120)|reelin-mediated signaling pathway (GO:0038026)|regulation of behavior (GO:0050795)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of synaptic transmission (GO:0050804)|response to pain (GO:0048265)|spinal cord patterning (GO:0021511)|ventral spinal cord development (GO:0021517)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	lipoprotein particle receptor binding (GO:0070325)|metal ion binding (GO:0046872)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|serine-type peptidase activity (GO:0008236)|very-low-density lipoprotein particle receptor binding (GO:0070326)			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		ATTGCTGAAAAGGAACTCCTG	0.547																																					NSCLC(146;835 1944 15585 22231 52158)												0													104.0	101.0	102.0					7																	103180780		2203	4300	6503	SO:0001583	missense	0				CCDS34722.1, CCDS47680.1	7q22	2008-07-18			ENSG00000189056	ENSG00000189056			9957	protein-coding gene	gene with protein product		600514				9049633	Standard	NM_005045		Approved	RL, PRO1598	uc010liz.3	P78509	OTTHUMG00000157247	ENST00000428762.1:c.6794T>C	7.37:g.103180780A>G	ENSP00000392423:p.Leu2265Pro		A4D0P9|A4D0Q0|Q86UJ0|Q86UJ8|Q8NDV0|Q9UDQ2	Missense_Mutation	SNP	pfam_EGF_extracell,pfam_Reeler_dom,pfam_BNR_rpt,superfamily_Sialidases,superfamily_Growth_fac_rcpt_N_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Reeler_dom	p.L2265P	ENST00000428762.1	37	c.6794	CCDS47680.1	7	.	.	.	.	.	.	.	.	.	.	A	15.30	2.792119	0.50102	.	.	ENSG00000189056	ENST00000428762;ENST00000343529;ENST00000424685;ENST00000448171	T;T;T	0.28895	1.59;1.59;1.59	5.44	5.44	0.79542	Neuraminidase (2);	0.000000	0.85682	D	0.000000	T	0.41696	0.1170	L	0.38531	1.155	0.80722	D	1	D;P	0.69078	0.997;0.92	D;P	0.69142	0.962;0.653	T	0.16837	-1.0389	10	0.38643	T	0.18	.	10.9553	0.47354	0.8604:0.0:0.0:0.1396	.	2265;2265	P78509-2;P78509	.;RELN_HUMAN	P	2265	ENSP00000392423:L2265P;ENSP00000345694:L2265P;ENSP00000388446:L2265P	ENSP00000345694:L2265P	L	-	2	0	RELN	102968016	1.000000	0.71417	0.998000	0.56505	0.998000	0.95712	6.711000	0.74675	2.194000	0.70268	0.533000	0.62120	CTT	RELN	-	superfamily_Sialidases	ENSG00000189056		0.547	RELN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	RELN	HGNC	protein_coding	OTTHUMT00000348148.1		0.00	49	0	A	NM_005045		103180780	-1			no_errors	ENST00000424685	ensembl	human	known	74_37	missense	27.27	8	3	SNP	1.000	G
RYR2	6262	genome.wustl.edu	37	1	237936826	237936826	+	Missense_Mutation	SNP	A	A	G			TCGA-R6-A6L4-01A-11D-A31U-09	TCGA-R6-A6L4-10A-01D-A31U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	73e30098-463c-4d83-b6f7-dcc43fad6592	3fc2bd45-8cf9-420d-b900-a0fee703731d	g.chr1:237936826A>G	ENST00000366574.2	+	87	11970	c.11653A>G	c.(11653-11655)Att>Gtt	p.I3885V	RYR2_ENST00000542537.1_Missense_Mutation_p.I3869V|RYR2_ENST00000360064.6_Missense_Mutation_p.I3891V|RYR2_ENST00000609119.1_3'UTR	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	3885					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)			CCAGGAATCAATTAGTGACTT	0.333																																																	0													96.0	92.0	93.0					1																	237936826		1812	4066	5878	SO:0001583	missense	0			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.11653A>G	1.37:g.237936826A>G	ENSP00000355533:p.Ile3885Val		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_dom,pfscan_MIR_motif	p.I3891V	ENST00000366574.2	37	c.11671	CCDS55691.1	1	.	.	.	.	.	.	.	.	.	.	A	17.24	3.340079	0.60963	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537;ENST00000542288	D;D;D	0.97066	-4.23;-4.2;-4.22	5.13	4.0	0.46444	RyR/IP3R Homology associated domain (1);	0.000000	0.64402	U	0.000011	D	0.96358	0.8812	N	0.25957	0.775	0.80722	D	1	D;D	0.58620	0.973;0.983	D;P	0.75484	0.986;0.869	D	0.94602	0.7797	10	0.33141	T	0.24	-12.2372	11.0696	0.47995	0.927:0.0:0.073:0.0	.	859;3885	B4DGV4;Q92736	.;RYR2_HUMAN	V	3885;3891;3869;859	ENSP00000355533:I3885V;ENSP00000353174:I3891V;ENSP00000443798:I3869V	ENSP00000353174:I3891V	I	+	1	0	RYR2	236003449	1.000000	0.71417	0.860000	0.33809	0.910000	0.53928	7.472000	0.80996	0.892000	0.36259	0.523000	0.50628	ATT	RYR2	-	pfam_RIH_assoc-dom	ENSG00000198626		0.333	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	RYR2	HGNC	protein_coding	OTTHUMT00000095402.2		0.00	93	0	A	NM_001035		237936826	+1			no_errors	ENST00000360064	ensembl	human	known	74_37	missense	22.58	48	14	SNP	0.995	G
SCN8A	6334	genome.wustl.edu	37	12	52200089	52200089	+	Nonsense_Mutation	SNP	G	G	T			TCGA-R6-A6L4-01A-11D-A31U-09	TCGA-R6-A6L4-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	73e30098-463c-4d83-b6f7-dcc43fad6592	3fc2bd45-8cf9-420d-b900-a0fee703731d	g.chr12:52200089G>T	ENST00000354534.6	+	27	4997	c.4819G>T	c.(4819-4821)Gag>Tag	p.E1607*	SCN8A_ENST00000545061.1_Nonsense_Mutation_p.E1566*	NM_001177984.2|NM_014191.3	NP_001171455.1|NP_055006.1	Q9UQD0	SCN8A_HUMAN	sodium channel, voltage gated, type VIII, alpha subunit	1607					adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|membrane depolarization during action potential (GO:0086010)|muscle organ development (GO:0007517)|myelination (GO:0042552)|nervous system development (GO:0007399)|neuromuscular process (GO:0050905)|neuronal action potential (GO:0019228)|peripheral nervous system development (GO:0007422)|response to toxic substance (GO:0009636)|sensory perception of sound (GO:0007605)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon initial segment (GO:0043194)|cytoplasmic vesicle (GO:0031410)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)|Z disc (GO:0030018)	ATP binding (GO:0005524)|voltage-gated sodium channel activity (GO:0005248)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(19)|ovary(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	55				BRCA - Breast invasive adenocarcinoma(357;0.181)	Valproic Acid(DB00313)	AGATATAATTGAGAAATACTT	0.433																																																	0													138.0	143.0	142.0					12																	52200089		1906	4136	6042	SO:0001587	stop_gained	0			AB027567	CCDS44891.1, CCDS53794.1	12q13.1	2012-02-26	2007-01-23			ENSG00000196876		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10596	protein-coding gene	gene with protein product		600702	"""sodium channel, voltage gated, type VIII, alpha polypeptide"""	MED		7670495, 9828131, 16382098	Standard	NM_014191		Approved	Nav1.6, NaCh6, PN4, CerIII	uc001ryw.4	Q9UQD0		ENST00000354534.6:c.4819G>T	12.37:g.52200089G>T	ENSP00000346534:p.Glu1607*		B9VWG8|O95788|Q9NYX2|Q9UPB2	Nonsense_Mutation	SNP	pfam_Ion_trans_dom,pfam_DUF3451,pfam_Na_trans_assoc,pfam_PKD1_2_channel,pfam_IQ_motif_EF-hand-BS,smart_IQ_motif_EF-hand-BS,prints_Na_channel_a8su,prints_Na_channel_asu,prints_PKD_2,pfscan_IQ_motif_EF-hand-BS	p.E1607*	ENST00000354534.6	37	c.4819	CCDS44891.1	12	.	.	.	.	.	.	.	.	.	.	G	43	9.894802	0.99290	.	.	ENSG00000196876	ENST00000354534;ENST00000545061	.	.	.	5.29	5.29	0.74685	.	0.000000	0.64402	D	0.000008	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.41790	T	0.15	.	12.7943	0.57551	0.0744:0.0:0.9256:0.0	.	.	.	.	X	1607;1566	.	ENSP00000346534:E1607X	E	+	1	0	SCN8A	50486356	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.495000	0.73665	2.927000	0.99377	0.637000	0.83480	GAG	SCN8A	-	pfam_Ion_trans_dom	ENSG00000196876		0.433	SCN8A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SCN8A	HGNC	protein_coding	OTTHUMT00000404372.3		0.00	48	0	G	NM_014191		52200089	+1			no_errors	ENST00000354534	ensembl	human	known	74_37	nonsense	5.13	37	2	SNP	1.000	T
SEC16A	9919	genome.wustl.edu	37	9	139351997	139351997	+	Missense_Mutation	SNP	C	C	A			TCGA-R6-A6L4-01A-11D-A31U-09	TCGA-R6-A6L4-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	73e30098-463c-4d83-b6f7-dcc43fad6592	3fc2bd45-8cf9-420d-b900-a0fee703731d	g.chr9:139351997C>A	ENST00000371706.3	-	16	4948	c.4915G>T	c.(4915-4917)Ggg>Tgg	p.G1639W	SEC16A_ENST00000431893.2_Missense_Mutation_p.G1639W|SEC16A_ENST00000313050.7_Missense_Mutation_p.G1817W|SEC16A_ENST00000290037.6_Missense_Mutation_p.G1639W			O15027	SC16A_HUMAN	SEC16 homolog A (S. cerevisiae)	1639					COPII vesicle coating (GO:0048208)|endoplasmic reticulum organization (GO:0007029)|protein transport (GO:0015031)|substantia nigra development (GO:0021762)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)				breast(1)|central_nervous_system(3)|endometrium(7)|kidney(5)|large_intestine(15)|lung(14)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51		Myeloproliferative disorder(178;0.0511)		Epithelial(140;2.9e-06)|OV - Ovarian serous cystadenocarcinoma(145;5.88e-06)		GTGGCCAGCCCCATTTCCGCC	0.612																																																	0													37.0	51.0	47.0					9																	139351997		2069	4206	6275	SO:0001583	missense	0			AK074565	CCDS55351.1, CCDS75936.1	9q34.3	2007-06-20	2007-06-20	2007-06-20	ENSG00000148396	ENSG00000148396			29006	protein-coding gene	gene with protein product		612854	"""KIAA0310"""	KIAA0310		9205841	Standard	NM_014866		Approved	p250	uc004chx.3	O15027	OTTHUMG00000020932	ENST00000371706.3:c.4915G>T	9.37:g.139351997C>A	ENSP00000360771:p.Gly1639Trp		A1YCA4|Q4G0D7|Q5SXP0|Q5SXP1|Q8N347|Q96HP1	Missense_Mutation	SNP	NULL	p.G1817W	ENST00000371706.3	37	c.5449		9	.	.	.	.	.	.	.	.	.	.	C	25.2	4.610552	0.87258	.	.	ENSG00000148396	ENST00000313050;ENST00000277537;ENST00000453963;ENST00000371706;ENST00000290037;ENST00000431893;ENST00000404925	T;D;T;T;T;T	0.82984	-0.92;-1.67;-1.16;-0.91;-0.91;-0.91	4.7	4.7	0.59300	.	0.000000	0.85682	D	0.000000	D	0.93331	0.7874	M	0.93550	3.43	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	D	0.95138	0.8261	10	0.87932	D	0	-26.4578	16.9705	0.86297	0.0:1.0:0.0:0.0	.	1817;1639;1639;1207	F1T0I1;O15027-5;O15027-4;A4QN19	.;.;.;.	W	1817;211;539;1639;1639;1639;1207	ENSP00000325827:G1817W;ENSP00000277537:G211W;ENSP00000403525:G539W;ENSP00000360771:G1639W;ENSP00000290037:G1639W;ENSP00000387583:G1639W	ENSP00000277537:G211W	G	-	1	0	SEC16A	138471818	1.000000	0.71417	0.951000	0.38953	0.899000	0.52679	7.621000	0.83083	2.306000	0.77630	0.561000	0.74099	GGG	SEC16A	-	NULL	ENSG00000148396		0.612	SEC16A-001	KNOWN	basic	protein_coding	SEC16A	HGNC	protein_coding	OTTHUMT00000055077.1		0.00	52	0	C	XM_088459		139351997	-1			no_errors	ENST00000313050	ensembl	human	known	74_37	missense	9.30	39	4	SNP	1.000	A
SELV	348303	genome.wustl.edu	37	19	40006070	40006070	+	Missense_Mutation	SNP	T	T	A			TCGA-R6-A6L4-01A-11D-A31U-09	TCGA-R6-A6L4-10A-01D-A31U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	73e30098-463c-4d83-b6f7-dcc43fad6592	3fc2bd45-8cf9-420d-b900-a0fee703731d	g.chr19:40006070T>A	ENST00000335426.4	+	1	318	c.218T>A	c.(217-219)gTc>gAc	p.V73D	SELV_ENST00000423711.1_Missense_Mutation_p.V73D	NM_182704.1	NP_874363.1	P59797	SELV_HUMAN		73					cell redox homeostasis (GO:0045454)		selenium binding (GO:0008430)			breast(1)|endometrium(1)|lung(3)|prostate(1)	6	all_cancers(60;4.04e-06)|all_lung(34;1.77e-07)|Lung NSC(34;2.09e-07)|all_epithelial(25;1.13e-05)|Ovarian(47;0.159)		Epithelial(26;8.61e-26)|all cancers(26;2.76e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			cccactctggtccccactccc	0.687																																																	0													32.0	40.0	37.0					19																	40006070		1595	3087	4682	SO:0001583	missense	0																														ENST00000335426.4:c.218T>A	19.37:g.40006070T>A	ENSP00000333956:p.Val73Asp		Q17RG5	Missense_Mutation	SNP	pfam_Selenoprotein_Rdx-typ,superfamily_Thioredoxin-like_fold,tigrfam_Selenoprotein_Rdx-typ	p.V73D	ENST00000335426.4	37	c.218	CCDS54266.1	19	.	.	.	.	.	.	.	.	.	.	T	13.81	2.348811	0.41599	.	.	ENSG00000186838	ENST00000335426;ENST00000423711	T;T	0.53640	0.61;0.69	2.88	0.593	0.17478	.	.	.	.	.	T	0.47911	0.1471	L	0.49126	1.545	0.32415	N	0.550113	D	0.62365	0.991	P	0.58013	0.831	T	0.53500	-0.8430	9	0.14252	T	0.57	-0.5392	5.7805	0.18304	0.0:0.4975:0.0:0.5025	.	73	P59797	SELV_HUMAN	D	73	ENSP00000333956:V73D;ENSP00000412508:V73D	ENSP00000333956:V73D	V	+	2	0	AC011500.1	44697910	0.000000	0.05858	0.002000	0.10522	0.046000	0.14306	-1.783000	0.01770	0.083000	0.17047	0.248000	0.18094	GTC	SELV	-	NULL	ENSG00000186838		0.687	SELV-001	KNOWN	basic|appris_candidate_longest|CCDS|seleno	protein_coding	SELV	Uniprot_gn	protein_coding	OTTHUMT00000389802.1		0.00	25	0	T			40006070	+1			no_errors	ENST00000423711	ensembl	human	known	74_37	missense	27.27	16	6	SNP	0.018	A
SHANK2	22941	genome.wustl.edu	37	11	70333283	70333283	+	Missense_Mutation	SNP	G	G	A			TCGA-R6-A6L4-01A-11D-A31U-09	TCGA-R6-A6L4-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	73e30098-463c-4d83-b6f7-dcc43fad6592	3fc2bd45-8cf9-420d-b900-a0fee703731d	g.chr11:70333283G>A	ENST00000423696.2	-	15	2014	c.1978C>T	c.(1978-1980)Ccg>Tcg	p.P660S	SHANK2_ENST00000449833.2_Missense_Mutation_p.P444S|SHANK2_ENST00000338508.4_Missense_Mutation_p.P1040S|SHANK2_ENST00000409161.1_Missense_Mutation_p.P443S			Q9UPX8	SHAN2_HUMAN	SH3 and multiple ankyrin repeat domains 2	660					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)			CTGGTGGACGGCTCCTTCACG	0.667																																																	0													73.0	74.0	74.0					11																	70333283		2200	4294	6494	SO:0001583	missense	0			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.1978C>T	11.37:g.70333283G>A	ENSP00000394536:p.Pro660Ser		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.P1040S	ENST00000423696.2	37	c.3118		11	.	.	.	.	.	.	.	.	.	.	G	19.81	3.896026	0.72639	.	.	ENSG00000162105	ENST00000449833;ENST00000409161;ENST00000424924;ENST00000338508;ENST00000423696;ENST00000433693;ENST00000294018	T;T;T;T;T;T	0.59224	1.45;1.44;2.23;0.28;1.73;1.74	4.87	4.87	0.63330	.	0.000000	0.85682	D	0.000000	T	0.77624	0.4158	M	0.81341	2.54	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.99;0.999;0.998	T	0.79463	-0.1793	10	0.46703	T	0.11	.	18.0048	0.89207	0.0:0.0:1.0:0.0	.	660;1039;444	Q9UPX8;Q9UPX8-3;Q9UPX8-4	SHAN2_HUMAN;.;.	S	444;443;318;1040;660;678;663	ENSP00000399423:P444S;ENSP00000386491:P443S;ENSP00000402944:P318S;ENSP00000345193:P1040S;ENSP00000394536:P660S;ENSP00000294018:P663S	ENSP00000294018:P663S	P	-	1	0	SHANK2	70010931	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.972000	0.93424	2.271000	0.75665	0.561000	0.74099	CCG	SHANK2	-	NULL	ENSG00000162105		0.667	SHANK2-203	KNOWN	basic	protein_coding	SHANK2	HGNC	protein_coding			0.00	42	0	G	NM_012309		70333283	-1			no_errors	ENST00000338508	ensembl	human	known	74_37	missense	10.00	27	3	SNP	1.000	A
SLC16A9	220963	genome.wustl.edu	37	10	61412546	61412546	+	Missense_Mutation	SNP	A	A	C			TCGA-R6-A6L4-01A-11D-A31U-09	TCGA-R6-A6L4-10A-01D-A31U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	73e30098-463c-4d83-b6f7-dcc43fad6592	3fc2bd45-8cf9-420d-b900-a0fee703731d	g.chr10:61412546A>C	ENST00000395348.3	-	6	2150	c.1514T>G	c.(1513-1515)gTt>gGt	p.V505G	SLC16A9_ENST00000395347.1_Missense_Mutation_p.V505G	NM_194298.2	NP_919274.1	Q7RTY1	MOT9_HUMAN	solute carrier family 16, member 9	505					urate metabolic process (GO:0046415)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	symporter activity (GO:0015293)			kidney(3)|large_intestine(5)|lung(5)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	23						ATTAGAGGCAACTTTGTACAA	0.398																																																	0													61.0	64.0	63.0					10																	61412546		2203	4300	6503	SO:0001583	missense	0			AK125791	CCDS7256.1	10q21.3	2013-07-18	2013-07-18	2004-01-21	ENSG00000165449	ENSG00000165449		"""Solute carriers"""	23520	protein-coding gene	gene with protein product	"""monocarboxylic acid transporter 9"""	614242	"""chromosome 10 open reading frame 36"", ""solute carrier family 16 (monocarboxylic acid transporters), member 9"", ""solute carrier family 16, member 9 (monocarboxylic acid transporter 9)"""	C10orf36			Standard	NM_194298		Approved	FLJ43803, MCT9	uc010qig.1	Q7RTY1	OTTHUMG00000018283	ENST00000395348.3:c.1514T>G	10.37:g.61412546A>C	ENSP00000378757:p.Val505Gly		Q6ZMI2|Q9UFH8	Missense_Mutation	SNP	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	p.V505G	ENST00000395348.3	37	c.1514	CCDS7256.1	10	.	.	.	.	.	.	.	.	.	.	A	12.95	2.091661	0.36952	.	.	ENSG00000165449	ENST00000395348;ENST00000395347	T;T	0.04917	3.53;3.53	5.57	4.44	0.53790	.	0.964852	0.08622	N	0.918293	T	0.05273	0.0140	N	0.24115	0.695	0.58432	D	0.999994	B	0.11235	0.004	B	0.09377	0.004	T	0.39742	-0.9599	10	0.87932	D	0	.	4.448	0.11607	0.6415:0.183:0.1756:0.0	.	505	Q7RTY1	MOT9_HUMAN	G	505	ENSP00000378757:V505G;ENSP00000378756:V505G	ENSP00000378756:V505G	V	-	2	0	SLC16A9	61082552	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.057000	0.49931	2.103000	0.63969	0.528000	0.53228	GTT	SLC16A9	-	NULL	ENSG00000165449		0.398	SLC16A9-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SLC16A9	HGNC	protein_coding	OTTHUMT00000048174.2		0.00	104	0	A	NM_194298		61412546	-1			no_errors	ENST00000395347	ensembl	human	known	74_37	missense	40.48	25	17	SNP	1.000	C
SLC17A5	26503	genome.wustl.edu	37	6	74304823	74304823	+	Missense_Mutation	SNP	C	C	G			TCGA-R6-A6L4-01A-11D-A31U-09	TCGA-R6-A6L4-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	73e30098-463c-4d83-b6f7-dcc43fad6592	3fc2bd45-8cf9-420d-b900-a0fee703731d	g.chr6:74304823C>G	ENST00000355773.5	-	11	1733	c.1465G>C	c.(1465-1467)Gat>Cat	p.D489H		NM_012434.4	NP_036566.1	Q9NRA2	S17A5_HUMAN	solute carrier family 17 (acidic sugar transporter), member 5	489					amino acid transport (GO:0006865)|anion transport (GO:0006820)|ion transport (GO:0006811)|proton transport (GO:0015992)|sialic acid transport (GO:0015739)|transmembrane transport (GO:0055085)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|plasma membrane (GO:0005886)|synapse (GO:0045202)	sialic acid transmembrane transporter activity (GO:0015136)|sugar:proton symporter activity (GO:0005351)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						CCATGGTGATCATTGAGAGCC	0.373																																																	0													196.0	189.0	191.0					6																	74304823		2203	4300	6503	SO:0001583	missense	0			AJ387747	CCDS4981.1	6q13	2013-07-18	2013-07-18		ENSG00000119899	ENSG00000119899		"""Solute carriers"""	10933	protein-coding gene	gene with protein product		604322	"""sialic acid storage disease"", ""solute carrier family 17 (anion/sugar transporter), member 5"""	SIASD		10581036, 8198127	Standard	NM_012434		Approved	AST, SD, ISSD, NSD, SIALIN, SLD	uc003phn.4	Q9NRA2	OTTHUMG00000015039	ENST00000355773.5:c.1465G>C	6.37:g.74304823C>G	ENSP00000348019:p.Asp489His		Q5SZ76|Q8NBR5|Q9UGH0	Missense_Mutation	SNP	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	p.D489H	ENST00000355773.5	37	c.1465	CCDS4981.1	6	.	.	.	.	.	.	.	.	.	.	C	5.784	0.329047	0.10956	.	.	ENSG00000119899	ENST00000355773	T	0.60672	0.17	5.3	3.07	0.35406	Major facilitator superfamily domain, general substrate transporter (1);	1.704590	0.02644	N	0.105650	T	0.26991	0.0661	L	0.31371	0.925	0.19575	N	0.999969	B	0.02656	0.0	B	0.04013	0.001	T	0.13656	-1.0501	10	0.48119	T	0.1	.	7.3705	0.26798	0.0:0.6708:0.1409:0.1882	.	489	Q9NRA2	S17A5_HUMAN	H	489	ENSP00000348019:D489H	ENSP00000348019:D489H	D	-	1	0	SLC17A5	74361544	0.000000	0.05858	0.342000	0.25602	0.148000	0.21650	0.182000	0.16900	1.153000	0.42468	0.542000	0.68232	GAT	SLC17A5	-	superfamily_MFS_dom_general_subst_transpt	ENSG00000119899		0.373	SLC17A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC17A5	HGNC	protein_coding	OTTHUMT00000041228.1		0.00	123	0	C			74304823	-1			no_errors	ENST00000355773	ensembl	human	known	74_37	missense	37.25	64	38	SNP	0.085	G
SLC26A3	1811	genome.wustl.edu	37	7	107418651	107418651	+	Missense_Mutation	SNP	G	G	T			TCGA-R6-A6L4-01A-11D-A31U-09	TCGA-R6-A6L4-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	73e30098-463c-4d83-b6f7-dcc43fad6592	3fc2bd45-8cf9-420d-b900-a0fee703731d	g.chr7:107418651G>T	ENST00000340010.5	-	13	1667	c.1483C>A	c.(1483-1485)Caa>Aaa	p.Q495K	SLC26A3_ENST00000422236.2_Missense_Mutation_p.Q460K	NM_000111.2	NP_000102.1	P40879	S26A3_HUMAN	solute carrier family 26 (anion exchanger), member 3	495					anion transport (GO:0006820)|cellular response to cAMP (GO:0071320)|excretion (GO:0007588)|intracellular pH elevation (GO:0051454)|ion transport (GO:0006811)|membrane hyperpolarization (GO:0060081)|regulation of RNA biosynthetic process (GO:2001141)|regulation of transcription, DNA-templated (GO:0006355)|sperm capacitation (GO:0048240)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|sperm midpiece (GO:0097225)	anion:anion antiporter activity (GO:0015301)|bicarbonate transmembrane transporter activity (GO:0015106)|chloride transmembrane transporter activity (GO:0015108)|secondary active sulfate transmembrane transporter activity (GO:0008271)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription cofactor activity (GO:0003712)|transporter activity (GO:0005215)	p.Q495K(1)		breast(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(18)|ovary(4)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	46						GTTAGCAGTTGAAATGCCACA	0.468																																																	1	Substitution - Missense(1)	lung(1)											101.0	79.0	86.0					7																	107418651		2203	4300	6503	SO:0001583	missense	0			L02785	CCDS5748.1	7q31	2014-09-17	2013-07-18		ENSG00000091138	ENSG00000091138		"""Solute carriers"""	3018	protein-coding gene	gene with protein product		126650	"""congenital chloride diarrhea"", ""solute carrier family 26, member 3"""	DRA, CLD		8020951, 11087667	Standard	NM_000111		Approved		uc003ver.2	P40879	OTTHUMG00000154812	ENST00000340010.5:c.1483C>A	7.37:g.107418651G>T	ENSP00000345873:p.Gln495Lys			Missense_Mutation	SNP	pfam_Sulph_transpt,pfam_STAS_dom,superfamily_STAS_dom,pfscan_STAS_dom,tigrfam_SulP_transpt	p.Q495K	ENST00000340010.5	37	c.1483	CCDS5748.1	7	.	.	.	.	.	.	.	.	.	.	G	15.91	2.973725	0.53720	.	.	ENSG00000091138	ENST00000422236;ENST00000340010	D;D	0.92805	-3.09;-3.11	5.81	4.92	0.64577	.	0.098174	0.64402	D	0.000002	D	0.90892	0.7138	L	0.44542	1.39	0.31585	N	0.654598	P;B	0.41420	0.749;0.215	B;B	0.44108	0.441;0.071	D	0.91810	0.5459	10	0.72032	D	0.01	.	16.9709	0.86298	0.0:0.4444:0.5556:0.0	.	460;495	G5E9U3;P40879	.;S26A3_HUMAN	K	460;495	ENSP00000415817:Q460K;ENSP00000345873:Q495K	ENSP00000345873:Q495K	Q	-	1	0	SLC26A3	107205887	0.999000	0.42202	0.996000	0.52242	0.924000	0.55760	2.745000	0.47459	1.419000	0.47118	0.655000	0.94253	CAA	SLC26A3	-	tigrfam_SulP_transpt	ENSG00000091138		0.468	SLC26A3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC26A3	HGNC	protein_coding	OTTHUMT00000337190.1		0.00	34	0	G	NM_000111		107418651	-1			no_errors	ENST00000340010	ensembl	human	known	74_37	missense	8.70	21	2	SNP	0.993	T
SLC26A3	1811	genome.wustl.edu	37	7	107423293	107423293	+	Silent	SNP	G	G	A			TCGA-R6-A6L4-01A-11D-A31U-09	TCGA-R6-A6L4-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	73e30098-463c-4d83-b6f7-dcc43fad6592	3fc2bd45-8cf9-420d-b900-a0fee703731d	g.chr7:107423293G>A	ENST00000340010.5	-	11	1444	c.1260C>T	c.(1258-1260)atC>atT	p.I420I	SLC26A3_ENST00000422236.2_Silent_p.I385I	NM_000111.2	NP_000102.1	P40879	S26A3_HUMAN	solute carrier family 26 (anion exchanger), member 3	420					anion transport (GO:0006820)|cellular response to cAMP (GO:0071320)|excretion (GO:0007588)|intracellular pH elevation (GO:0051454)|ion transport (GO:0006811)|membrane hyperpolarization (GO:0060081)|regulation of RNA biosynthetic process (GO:2001141)|regulation of transcription, DNA-templated (GO:0006355)|sperm capacitation (GO:0048240)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|sperm midpiece (GO:0097225)	anion:anion antiporter activity (GO:0015301)|bicarbonate transmembrane transporter activity (GO:0015106)|chloride transmembrane transporter activity (GO:0015108)|secondary active sulfate transmembrane transporter activity (GO:0008271)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription cofactor activity (GO:0003712)|transporter activity (GO:0005215)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(18)|ovary(4)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	46						CAATCAGCACGATGATGGCAC	0.418																																																	0													84.0	81.0	82.0					7																	107423293		2203	4300	6503	SO:0001819	synonymous_variant	0			L02785	CCDS5748.1	7q31	2014-09-17	2013-07-18		ENSG00000091138	ENSG00000091138		"""Solute carriers"""	3018	protein-coding gene	gene with protein product		126650	"""congenital chloride diarrhea"", ""solute carrier family 26, member 3"""	DRA, CLD		8020951, 11087667	Standard	NM_000111		Approved		uc003ver.2	P40879	OTTHUMG00000154812	ENST00000340010.5:c.1260C>T	7.37:g.107423293G>A				Silent	SNP	pfam_Sulph_transpt,pfam_STAS_dom,superfamily_STAS_dom,pfscan_STAS_dom,tigrfam_SulP_transpt	p.I420	ENST00000340010.5	37	c.1260	CCDS5748.1	7																																																																																			SLC26A3	-	pfam_Sulph_transpt,tigrfam_SulP_transpt	ENSG00000091138		0.418	SLC26A3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC26A3	HGNC	protein_coding	OTTHUMT00000337190.1		0.00	49	0	G	NM_000111		107423293	-1			no_errors	ENST00000340010	ensembl	human	known	74_37	silent	7.14	26	2	SNP	0.005	A
SNAP91	9892	genome.wustl.edu	37	6	84292073	84292073	+	Missense_Mutation	SNP	A	A	C			TCGA-R6-A6L4-01A-11D-A31U-09	TCGA-R6-A6L4-10A-01D-A31U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	73e30098-463c-4d83-b6f7-dcc43fad6592	3fc2bd45-8cf9-420d-b900-a0fee703731d	g.chr6:84292073A>C	ENST00000439399.2	-	23	2333	c.2017T>G	c.(2017-2019)Ttt>Gtt	p.F673V	SNAP91_ENST00000195649.6_Missense_Mutation_p.F673V|SNAP91_ENST00000369694.2_Missense_Mutation_p.F673V|SNAP91_ENST00000519133.1_5'Flank|SNAP91_ENST00000437520.1_Missense_Mutation_p.F366V|SNAP91_ENST00000428679.2_Missense_Mutation_p.F673V|SNAP91_ENST00000520213.1_Missense_Mutation_p.F366V|SNAP91_ENST00000521743.1_Missense_Mutation_p.F673V|SNAP91_ENST00000520302.1_Missense_Mutation_p.F643V|SNAP91_ENST00000521485.1_Missense_Mutation_p.F673V	NM_014841.2	NP_055656.1	O60641	AP180_HUMAN	synaptosomal-associated protein, 91kDa	673					clathrin coat assembly (GO:0048268)|protein transport (GO:0015031)	clathrin coat (GO:0030118)|coated pit (GO:0005905)|plasma membrane (GO:0005886)	1-phosphatidylinositol binding (GO:0005545)|protein kinase binding (GO:0019901)			breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(22)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	37		all_cancers(76;0.000243)|Acute lymphoblastic leukemia(125;2.91e-07)|all_hematologic(105;0.000337)|all_epithelial(107;0.0575)		BRCA - Breast invasive adenocarcinoma(397;0.0967)		GAACCCCCAAATCCTGAAAAA	0.403																																																	0													47.0	47.0	47.0					6																	84292073		1864	4101	5965	SO:0001583	missense	0			AB014556	CCDS47455.1, CCDS56437.1, CCDS56438.1	6q15	2012-12-07	2012-12-07		ENSG00000065609	ENSG00000065609			14986	protein-coding gene	gene with protein product		607923	"""synaptosomal-associated protein, 91 kDa (mouse) homolog"", ""synaptosomal-associated protein, 91kDa homolog (mouse)"""			9734811, 12493563, 10436022	Standard	NM_014841		Approved	KIAA0656, AP180, CALM	uc003pka.3	O60641	OTTHUMG00000015114	ENST00000439399.2:c.2017T>G	6.37:g.84292073A>C	ENSP00000400459:p.Phe673Val		A8K0L7|E5RI02|Q5JX13|Q68DL9|Q6P9D3|Q9NTY7	Missense_Mutation	SNP	pfam_ANTH_dom,pfam_Epsin_dom_N,superfamily_ENTH_VHS,smart_Epsin-like_N,pfscan_Epsin-like_N	p.F673V	ENST00000439399.2	37	c.2017	CCDS47455.1	6	.	.	.	.	.	.	.	.	.	.	A	16.09	3.023878	0.54683	.	.	ENSG00000065609	ENST00000521485;ENST00000369694;ENST00000439399;ENST00000195649;ENST00000428679;ENST00000437520;ENST00000520302;ENST00000521743;ENST00000520213;ENST00000523448;ENST00000521931	T;T;T;T;T;T;T;T;T;T;T	0.32023	2.43;2.45;2.45;2.43;2.45;2.39;2.41;2.45;2.39;1.88;1.47	5.57	5.57	0.84162	.	0.987636	0.08273	N	0.971053	T	0.46852	0.1414	M	0.64997	1.995	0.45318	D	0.998319	D;D;D;P;D	0.65815	0.981;0.981;0.995;0.874;0.962	D;D;D;P;P	0.71184	0.932;0.943;0.972;0.449;0.719	T	0.16748	-1.0392	10	0.59425	D	0.04	-14.3325	15.7193	0.77694	1.0:0.0:0.0:0.0	.	554;366;643;673;671	B7Z2N2;O60641-3;E5RI02;O60641;E1P549	.;.;.;AP180_HUMAN;.	V	673;673;673;673;673;366;643;673;366;14;486	ENSP00000429776:F673V;ENSP00000358708:F673V;ENSP00000400459:F673V;ENSP00000195649:F673V;ENSP00000412492:F673V;ENSP00000413277:F366V;ENSP00000428511:F643V;ENSP00000428215:F673V;ENSP00000428026:F366V;ENSP00000430255:F14V;ENSP00000430071:F486V	ENSP00000195649:F673V	F	-	1	0	SNAP91	84348792	1.000000	0.71417	1.000000	0.80357	0.607000	0.37147	6.778000	0.75043	2.128000	0.65567	0.533000	0.62120	TTT	SNAP91	-	NULL	ENSG00000065609		0.403	SNAP91-007	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	SNAP91	HGNC	protein_coding	OTTHUMT00000375296.1		0.00	28	0	A			84292073	-1			no_errors	ENST00000369694	ensembl	human	known	74_37	missense	24.14	22	7	SNP	1.000	C
SNHG14	104472715	genome.wustl.edu	37	15	25486732	25486732	+	RNA	SNP	T	T	C	rs557224725	byFrequency	TCGA-R6-A6L4-01A-11D-A31U-09	TCGA-R6-A6L4-10A-01D-A31U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	73e30098-463c-4d83-b6f7-dcc43fad6592	3fc2bd45-8cf9-420d-b900-a0fee703731d	g.chr15:25486732T>C	ENST00000453082.2	+	0	2051				SNORD115-40_ENST00000606510.1_RNA|SNORD115-38_ENST00000365037.1_RNA|SNORD115-39_ENST00000363694.1_RNA	NR_003343.1				small nucleolar RNA host gene 14 (non-protein coding)																		AAGACTTCCATTGGGCCCACT	0.602																																																	0																																												0					15q11.2	2014-01-17	2011-08-22	2011-08-22	ENSG00000224078	ENSG00000224078		"""Long non-coding RNAs"""	37462	non-coding RNA	RNA, long non-coding	"""non-protein coding RNA 214"""		"""UBE3A antisense RNA 1 (non-protein coding)"""	UBE3A-AS1		23771028	Standard			Approved	NCRNA00214, UBE3A-AS			OTTHUMG00000056661		15.37:g.25486732T>C				RNA	SNP	-	NULL	ENST00000453082.2	37	NULL		15																																																																																			SNHG14	-	-	ENSG00000224078		0.602	SNHG14-003	KNOWN	non_canonical_TEC|basic	antisense	SNHG14	HGNC	processed_transcript	OTTHUMT00000126730.2		0.00	19	0	T			25486732	+1			no_errors	ENST00000453082	ensembl	human	known	74_37	rna	75.00	2	6	SNP	0.001	C
SPATA31E1	286234	genome.wustl.edu	37	9	90502633	90502633	+	Silent	SNP	A	A	C			TCGA-R6-A6L4-01A-11D-A31U-09	TCGA-R6-A6L4-10A-01D-A31U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	73e30098-463c-4d83-b6f7-dcc43fad6592	3fc2bd45-8cf9-420d-b900-a0fee703731d	g.chr9:90502633A>C	ENST00000325643.5	+	4	3297	c.3231A>C	c.(3229-3231)tcA>tcC	p.S1077S		NM_178828.4	NP_849150.3	Q6ZUB1	S31E1_HUMAN	SPATA31 subfamily E, member 1	1077					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											GTAACCCCTCAGCGTCTTCAG	0.582																																																	0													80.0	74.0	76.0					9																	90502633		2203	4300	6503	SO:0001819	synonymous_variant	0			AK093185	CCDS6676.1	9q22.1-q22.2	2012-10-12	2012-10-12	2012-10-12	ENSG00000177992	ENSG00000177992			26672	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 79"", ""family with sequence similarity 75, member E1"""	C9orf79, FAM75E1			Standard	NM_178828		Approved	FLJ35866	uc004app.4	Q6ZUB1	OTTHUMG00000020157	ENST00000325643.5:c.3231A>C	9.37:g.90502633A>C			B2RPB1|Q5SQC9|Q8NA41|Q8ND27	Silent	SNP	NULL	p.S1077	ENST00000325643.5	37	c.3231	CCDS6676.1	9																																																																																			SPATA31E1	-	NULL	ENSG00000177992		0.582	SPATA31E1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPATA31E1	HGNC	protein_coding	OTTHUMT00000052954.2		0.00	33	0	A	NM_178828		90502633	+1			no_errors	ENST00000325643	ensembl	human	known	74_37	silent	18.75	26	6	SNP	0.000	C
SPDL1	54908	genome.wustl.edu	37	5	169015490	169015490	+	Missense_Mutation	SNP	G	G	A			TCGA-R6-A6L4-01A-11D-A31U-09	TCGA-R6-A6L4-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	73e30098-463c-4d83-b6f7-dcc43fad6592	3fc2bd45-8cf9-420d-b900-a0fee703731d	g.chr5:169015490G>A	ENST00000265295.4	+	2	349	c.70G>A	c.(70-72)Gca>Aca	p.A24T	SPDL1_ENST00000510751.1_3'UTR	NM_017785.4	NP_060255.3			spindle apparatus coiled-coil protein 1																		ACTAAAAGCTGCACAGTATGG	0.373																																																	0													98.0	94.0	95.0					5																	169015490		2203	4300	6503	SO:0001583	missense	0			BC012568	CCDS4370.1	5q35.1	2012-09-27	2012-09-27	2012-09-27	ENSG00000040275	ENSG00000040275			26010	protein-coding gene	gene with protein product	"""spindly homolog (Drosophila)"""		"""coiled-coil domain containing 99"""	CCDC99		20427577	Standard	NM_017785		Approved	FLJ20364, hSpindly	uc003mae.4	Q96EA4	OTTHUMG00000130438	ENST00000265295.4:c.70G>A	5.37:g.169015490G>A	ENSP00000265295:p.Ala24Thr			Missense_Mutation	SNP	NULL	p.A24T	ENST00000265295.4	37	c.70	CCDS4370.1	5	.	.	.	.	.	.	.	.	.	.	G	33	5.232943	0.95207	.	.	ENSG00000040275	ENST00000265295;ENST00000274631;ENST00000506574;ENST00000515224;ENST00000508247;ENST00000513941;ENST00000513795	T	0.62941	-0.01	5.51	5.51	0.81932	.	0.052186	0.85682	D	0.000000	T	0.79528	0.4461	M	0.70275	2.135	0.52501	D	0.999953	D	0.89917	1.0	D	0.77004	0.989	T	0.79588	-0.1741	10	0.56958	D	0.05	-17.6645	19.7654	0.96337	0.0:0.0:1.0:0.0	.	24	Q96EA4	SPDLY_HUMAN	T	24	ENSP00000265295:A24T	ENSP00000265295:A24T	A	+	1	0	CCDC99	168948068	1.000000	0.71417	1.000000	0.80357	0.824000	0.46624	7.937000	0.87672	2.750000	0.94351	0.655000	0.94253	GCA	SPDL1	-	NULL	ENSG00000040275		0.373	SPDL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPDL1	HGNC	protein_coding	OTTHUMT00000252829.2		0.00	32	0	G	NM_017785		169015490	+1			no_errors	ENST00000265295	ensembl	human	known	74_37	missense	17.65	14	3	SNP	1.000	A
SPSB1	80176	genome.wustl.edu	37	1	9427595	9427595	+	Silent	SNP	G	G	A			TCGA-R6-A6L4-01A-11D-A31U-09	TCGA-R6-A6L4-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	73e30098-463c-4d83-b6f7-dcc43fad6592	3fc2bd45-8cf9-420d-b900-a0fee703731d	g.chr1:9427595G>A	ENST00000328089.6	+	3	1124	c.783G>A	c.(781-783)ccG>ccA	p.P261P	SPSB1_ENST00000357898.3_Silent_p.P261P|SPSB1_ENST00000377399.2_Silent_p.P261P	NM_025106.3	NP_079382.2	Q96BD6	SPSB1_HUMAN	splA/ryanodine receptor domain and SOCS box containing 1	261	SOCS box. {ECO:0000255|PROSITE- ProRule:PRU00194}.				intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)				breast(1)|endometrium(3)|kidney(2)|lung(5)|prostate(2)	13	all_lung(157;0.194)	all_epithelial(116;4.38e-15)|all_lung(118;0.000156)|Lung NSC(185;0.000446)|Renal(390;0.000469)|Colorectal(325;0.0062)|Breast(348;0.0139)|Hepatocellular(190;0.0228)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.104)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;2.72e-07)|COAD - Colon adenocarcinoma(227;9.12e-05)|Kidney(185;0.000296)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00193)|BRCA - Breast invasive adenocarcinoma(304;0.00202)|READ - Rectum adenocarcinoma(331;0.0419)		ACACGCTGCCGCTGCCGGCTT	0.687																																																	0													28.0	30.0	29.0					1																	9427595		2202	4299	6501	SO:0001819	synonymous_variant	0				CCDS102.1	1p36.22	2008-02-05			ENSG00000171621	ENSG00000171621			30628	protein-coding gene	gene with protein product		611657				15713673, 12076535	Standard	NM_025106		Approved	SSB-1	uc010oae.2	Q96BD6	OTTHUMG00000001279	ENST00000328089.6:c.783G>A	1.37:g.9427595G>A			A2A275|Q59FA1|Q5TIH9|Q9BRY9|Q9H6C5	Silent	SNP	pfam_SPRY_rcpt,pfam_SOCS_C,superfamily_ConA-like_lec_gl_sf,smart_SPla/RYanodine_receptor_subgr,smart_SOCS_C,pfscan_B30.2/SPRY,pfscan_SOCS_C	p.P261	ENST00000328089.6	37	c.783	CCDS102.1	1																																																																																			SPSB1	-	pfam_SOCS_C,smart_SOCS_C,pfscan_SOCS_C	ENSG00000171621		0.687	SPSB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPSB1	HGNC	protein_coding	OTTHUMT00000003727.2		0.00	70	0	G	NM_025106		9427595	+1			no_errors	ENST00000328089	ensembl	human	known	74_37	silent	8.70	42	4	SNP	0.986	A
STARD13	90627	genome.wustl.edu	37	13	33704134	33704134	+	Missense_Mutation	SNP	A	A	G			TCGA-R6-A6L4-01A-11D-A31U-09	TCGA-R6-A6L4-10A-01D-A31U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	73e30098-463c-4d83-b6f7-dcc43fad6592	3fc2bd45-8cf9-420d-b900-a0fee703731d	g.chr13:33704134A>G	ENST00000336934.5	-	5	796	c.680T>C	c.(679-681)cTc>cCc	p.L227P	STARD13_ENST00000255486.4_Missense_Mutation_p.L219P|STARD13_ENST00000399365.3_Missense_Mutation_p.L109P	NM_001243476.1|NM_178006.3	NP_001230405.1|NP_821074.1	Q9Y3M8	STA13_HUMAN	StAR-related lipid transfer (START) domain containing 13	227					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)|lipid particle (GO:0005811)|membrane (GO:0016020)|mitochondrion (GO:0005739)	GTPase activator activity (GO:0005096)|lipid binding (GO:0008289)			breast(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(18)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|soft_tissue(1)|upper_aerodigestive_tract(1)	40	all_epithelial(80;0.155)	Lung SC(185;0.0367)		all cancers(112;1.31e-05)|Epithelial(112;0.000142)|BRCA - Breast invasive adenocarcinoma(63;0.00936)|OV - Ovarian serous cystadenocarcinoma(117;0.0533)|Lung(94;0.143)|GBM - Glioblastoma multiforme(144;0.143)		GCTGCTGACGAGTGGGGCATC	0.607																																																	0													48.0	53.0	51.0					13																	33704134		2203	4300	6503	SO:0001583	missense	0			AL049801	CCDS9348.1, CCDS9349.1, CCDS9350.1	13q13.1	2013-08-13	2007-08-16		ENSG00000133121	ENSG00000133121		"""Rho GTPase activating proteins"", ""StAR-related lipid transfer (START) domain containing"""	19164	protein-coding gene	gene with protein product		609866	"""START domain containing 13"", ""long intergenic non-protein coding RNA 464"""	LINC00464		8812419	Standard	NM_178006		Approved	GT650, DLC2, ARHGAP37	uc001uuw.3	Q9Y3M8	OTTHUMG00000016708	ENST00000336934.5:c.680T>C	13.37:g.33704134A>G	ENSP00000338785:p.Leu227Pro		A2A309|A2A310|Q5HYH1|Q5TAE3|Q6UN61|Q86TP6|Q86WQ3|Q86XT1	Missense_Mutation	SNP	pfam_START_lipid-bd_dom,pfam_RhoGAP_dom,pfam_SAM_2,superfamily_Rho_GTPase_activation_prot,superfamily_SAM/pointed,smart_RhoGAP_dom,smart_START_lipid-bd_dom,pfscan_START_lipid-bd_dom,pfscan_RhoGAP_dom	p.L227P	ENST00000336934.5	37	c.680	CCDS9348.1	13	.	.	.	.	.	.	.	.	.	.	A	2.498	-0.315932	0.05422	.	.	ENSG00000133121	ENST00000399365;ENST00000255486;ENST00000336934;ENST00000399364	T;T;T	0.06528	3.3;3.29;3.3	5.7	-1.91	0.07641	.	1.854270	0.02138	N	0.056924	T	0.07413	0.0187	L	0.44542	1.39	0.09310	N	1	B;B;B;B	0.06786	0.001;0.0;0.0;0.0	B;B;B;B	0.09377	0.004;0.003;0.001;0.003	T	0.41556	-0.9502	10	0.33940	T	0.23	.	8.5468	0.33426	0.368:0.0:0.5157:0.1164	.	219;192;227;219	Q9Y3M8-5;Q9Y3M8-4;Q9Y3M8;Q9Y3M8-2	.;.;STA13_HUMAN;.	P	109;219;227;219	ENSP00000382300:L109P;ENSP00000255486:L219P;ENSP00000338785:L227P	ENSP00000255486:L219P	L	-	2	0	STARD13	32602134	0.002000	0.14202	0.000000	0.03702	0.125000	0.20455	1.528000	0.35985	-0.151000	0.11176	-0.408000	0.06270	CTC	STARD13	-	NULL	ENSG00000133121		0.607	STARD13-006	KNOWN	basic|appris_principal|CCDS	protein_coding	STARD13	HGNC	protein_coding	OTTHUMT00000276118.2		0.00	10	0	A	NM_001243466		33704134	-1			no_errors	ENST00000336934	ensembl	human	known	74_37	missense	60.00	4	6	SNP	0.000	G
SYNE1	23345	genome.wustl.edu	37	6	152780060	152780060	+	Missense_Mutation	SNP	T	T	A			TCGA-R6-A6L4-01A-11D-A31U-09	TCGA-R6-A6L4-10A-01D-A31U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	73e30098-463c-4d83-b6f7-dcc43fad6592	3fc2bd45-8cf9-420d-b900-a0fee703731d	g.chr6:152780060T>A	ENST00000367255.5	-	22	3001	c.2400A>T	c.(2398-2400)aaA>aaT	p.K800N	SYNE1_ENST00000367253.4_Missense_Mutation_p.K800N|SYNE1_ENST00000265368.4_Missense_Mutation_p.K800N|SYNE1_ENST00000413186.2_Missense_Mutation_p.K800N|SYNE1_ENST00000448038.1_Missense_Mutation_p.K807N|SYNE1_ENST00000367248.3_Missense_Mutation_p.K790N|SYNE1_ENST00000423061.1_Missense_Mutation_p.K807N|SYNE1_ENST00000341594.5_Missense_Mutation_p.K807N|SYNE1_ENST00000495090.2_Missense_Mutation_p.K367N	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	800					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)		AGTAACATTCTTTGACCTTTA	0.393										HNSCC(10;0.0054)																																							0													59.0	59.0	59.0					6																	152780060		2203	4300	6503	SO:0001583	missense	0			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.2400A>T	6.37:g.152780060T>A	ENSP00000356224:p.Lys800Asn		E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	pfam_Spectrin_repeat,pfam_CH-domain,pfam_KASH,superfamily_CH-domain,superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH	p.K800N	ENST00000367255.5	37	c.2400	CCDS5236.2	6	.	.	.	.	.	.	.	.	.	.	T	15.72	2.918296	0.52546	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594;ENST00000367253;ENST00000367248;ENST00000413186;ENST00000495090	T;T;T;T;T;T;T;T;T	0.54071	1.43;1.43;1.43;1.43;0.59;1.43;1.43;1.43;1.43	5.72	3.32	0.38043	.	0.092738	0.46442	D	0.000294	T	0.24044	0.0582	L	0.59436	1.845	0.80722	D	1	B;B;B;B;B;B;B	0.27594	0.158;0.043;0.182;0.072;0.016;0.043;0.072	B;B;B;B;B;B;B	0.27608	0.046;0.02;0.045;0.081;0.02;0.02;0.045	T	0.07065	-1.0792	10	0.21014	T	0.42	.	4.9753	0.14136	0.1256:0.2739:0.0:0.6004	.	783;800;367;790;800;800;807	B3W695;Q8NF91;F5H422;F5GXQ8;Q8NF91-6;E7EQI5;Q8NF91-4	.;SYNE1_HUMAN;.;.;.;.;.	N	800;807;800;807;807;800;790;800;367	ENSP00000356224:K800N;ENSP00000396024:K807N;ENSP00000265368:K800N;ENSP00000390975:K807N;ENSP00000341887:K807N;ENSP00000356222:K800N;ENSP00000356217:K790N;ENSP00000414510:K800N;ENSP00000438508:K367N	ENSP00000265368:K800N	K	-	3	2	SYNE1	152821753	0.995000	0.38212	0.998000	0.56505	0.998000	0.95712	0.235000	0.17948	0.520000	0.28426	0.528000	0.53228	AAA	SYNE1	-	superfamily_Calpain_domain_III,superfamily_ABC1_TM_dom	ENSG00000131018		0.393	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SYNE1	HGNC	protein_coding	OTTHUMT00000334755.2		0.00	15	0	T	NM_182961		152780060	-1			no_errors	ENST00000265368	ensembl	human	known	74_37	missense	26.67	11	4	SNP	0.999	A
SYNE2	23224	genome.wustl.edu	37	14	64548248	64548248	+	Missense_Mutation	SNP	G	G	A			TCGA-R6-A6L4-01A-11D-A31U-09	TCGA-R6-A6L4-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	73e30098-463c-4d83-b6f7-dcc43fad6592	3fc2bd45-8cf9-420d-b900-a0fee703731d	g.chr14:64548248G>A	ENST00000344113.4	+	57	11646	c.11434G>A	c.(11434-11436)Gct>Act	p.A3812T	SYNE2_ENST00000554584.1_Missense_Mutation_p.A3845T|SYNE2_ENST00000357395.3_Missense_Mutation_p.A174T|SYNE2_ENST00000555002.1_Missense_Mutation_p.A446T|SYNE2_ENST00000394768.2_Missense_Mutation_p.A174T|SYNE2_ENST00000358025.3_Missense_Mutation_p.A3812T	NM_015180.4	NP_055995.4	Q8WXH0	SYNE2_HUMAN	spectrin repeat containing, nuclear envelope 2	3812					centrosome localization (GO:0051642)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment or maintenance of cell polarity (GO:0007163)|fibroblast migration (GO:0010761)|nuclear envelope organization (GO:0006998)|nuclear migration (GO:0007097)|nuclear migration along microfilament (GO:0031022)|positive regulation of cell migration (GO:0030335)|protein localization to nucleus (GO:0034504)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|filopodium membrane (GO:0031527)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intermediate filament cytoskeleton (GO:0045111)|lamellipodium membrane (GO:0031258)|mitochondrion (GO:0005739)|nuclear envelope (GO:0005635)|nuclear lumen (GO:0031981)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|sarcoplasmic reticulum (GO:0016529)|SUN-KASH complex (GO:0034993)|Z disc (GO:0030018)	actin binding (GO:0003779)			NS(5)|breast(17)|central_nervous_system(3)|cervix(8)|endometrium(17)|haematopoietic_and_lymphoid_tissue(2)|kidney(21)|large_intestine(34)|lung(75)|ovary(10)|pancreas(2)|prostate(8)|skin(8)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(4)	224				all cancers(60;0.00153)|OV - Ovarian serous cystadenocarcinoma(108;0.00444)|BRCA - Breast invasive adenocarcinoma(234;0.0681)		GGCCAATCCTGCTGACTATGA	0.448																																																	0													122.0	107.0	112.0					14																	64548248		2203	4300	6503	SO:0001583	missense	0			AB023228	CCDS9761.2, CCDS41963.1, CCDS45124.1, CCDS45125.1	14q22.1-q22.3	2014-09-17			ENSG00000054654	ENSG00000054654			17084	protein-coding gene	gene with protein product	"""nuclear envelope spectrin repeat-2"", ""nucleus and actin connecting element"""	608442				10231032, 10878022	Standard	NM_182910		Approved	SYNE-2, DKFZP434H2235, Nesprin-2, NUANCE, NUA, KIAA1011, Nesp2	uc001xgl.3	Q8WXH0	OTTHUMG00000140349	ENST00000344113.4:c.11434G>A	14.37:g.64548248G>A	ENSP00000341781:p.Ala3812Thr		Q540G1|Q8N1S3|Q8NF49|Q8TER7|Q8WWW3|Q8WWW4|Q8WWW5|Q8WXH1|Q9NU50|Q9UFQ4|Q9Y2L4|Q9Y4R1	Missense_Mutation	SNP	pfam_CH-domain,pfam_KASH,pfam_Spectrin_repeat,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,pfscan_CH-domain,pfscan_KASH	p.A3812T	ENST00000344113.4	37	c.11434	CCDS41963.1	14	.	.	.	.	.	.	.	.	.	.	G	11.33	1.607263	0.28623	.	.	ENSG00000054654	ENST00000358025;ENST00000357395;ENST00000344113;ENST00000554584;ENST00000261678;ENST00000555002;ENST00000394768	T;T;T;T;T;T	0.33654	1.4;1.4;1.4;1.4;1.4;1.4	5.6	3.75	0.43078	.	0.341025	0.25394	N	0.030985	T	0.24736	0.0600	L	0.36672	1.1	0.09310	N	1	B;B;B;B	0.24721	0.041;0.024;0.058;0.11	B;B;B;B	0.23419	0.027;0.012;0.038;0.046	T	0.11227	-1.0596	10	0.27785	T	0.31	.	6.6568	0.22992	0.2064:0.0:0.6582:0.1355	.	174;3846;3812;3812	Q8WXH0-7;D4YW74;Q8WXH0;Q8WXH0-2	.;.;SYNE2_HUMAN;.	T	3812;174;3812;3845;3845;446;174	ENSP00000350719:A3812T;ENSP00000349969:A174T;ENSP00000341781:A3812T;ENSP00000452570:A3845T;ENSP00000450831:A446T;ENSP00000378249:A174T	ENSP00000261678:A3845T	A	+	1	0	SYNE2	63618001	0.018000	0.18449	0.666000	0.29783	0.982000	0.71751	0.523000	0.22925	1.508000	0.48769	0.655000	0.94253	GCT	SYNE2	-	NULL	ENSG00000054654		0.448	SYNE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SYNE2	HGNC	protein_coding	OTTHUMT00000276994.2		0.00	45	0	G	NM_182914		64548248	+1			no_errors	ENST00000358025	ensembl	human	known	74_37	missense	15.79	16	3	SNP	0.002	A
TAF1	6872	genome.wustl.edu	37	X	70609454	70609454	+	Missense_Mutation	SNP	A	A	T			TCGA-R6-A6L4-01A-11D-A31U-09	TCGA-R6-A6L4-10A-01D-A31U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	73e30098-463c-4d83-b6f7-dcc43fad6592	3fc2bd45-8cf9-420d-b900-a0fee703731d	g.chrX:70609454A>T	ENST00000373790.4	+	18	2768	c.2717A>T	c.(2716-2718)aAa>aTa	p.K906I	TAF1_ENST00000449580.1_Missense_Mutation_p.K906I|TAF1_ENST00000276072.3_Missense_Mutation_p.K927I|TAF1_ENST00000423759.1_Missense_Mutation_p.K927I	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	906	Histone acetyltransferase (HAT).				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)				TATGGTGAGAAATCCTTTTTT	0.338																																																	0													112.0	103.0	106.0					X																	70609454		2203	4300	6503	SO:0001583	missense	0				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.2717A>T	X.37:g.70609454A>T	ENSP00000362895:p.Lys906Ile		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.K906I	ENST00000373790.4	37	c.2717	CCDS35325.1	X	.	.	.	.	.	.	.	.	.	.	.	24.0	4.487961	0.84854	.	.	ENSG00000147133	ENST00000373790;ENST00000449580;ENST00000423759;ENST00000276072	T;T;T;T	0.15017	2.46;2.46;2.46;2.46	4.98	4.98	0.66077	Transcription initiation factor TFIID subunit 1, domain of unknown function (1);	0.000000	0.85682	D	0.000000	T	0.34774	0.0909	L	0.52364	1.645	0.80722	D	1	D;D;D	0.58620	0.983;0.977;0.972	P;D;D	0.67900	0.882;0.954;0.924	T	0.07654	-1.0761	10	0.87932	D	0	.	13.9905	0.64362	1.0:0.0:0.0:0.0	.	906;906;927	P21675-4;P21675;P21675-2	.;TAF1_HUMAN;.	I	906;906;927;927	ENSP00000362895:K906I;ENSP00000389000:K906I;ENSP00000406549:K927I;ENSP00000276072:K927I	ENSP00000276072:K927I	K	+	2	0	TAF1	70526179	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	8.832000	0.92079	1.749000	0.51849	0.412000	0.27726	AAA	TAF1	-	pirsf_TAF1_animal,pfam_TFIID_sub1_DUF3591	ENSG00000147133		0.338	TAF1-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	TAF1	HGNC	protein_coding	OTTHUMT00000058995.2		0.00	42	0	A	NM_004606		70609454	+1			no_errors	ENST00000449580	ensembl	human	known	74_37	missense	15.38	22	4	SNP	1.000	T
TARM1	441864	genome.wustl.edu	37	19	54579141	54579141	+	Missense_Mutation	SNP	C	C	T			TCGA-R6-A6L4-01A-11D-A31U-09	TCGA-R6-A6L4-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	73e30098-463c-4d83-b6f7-dcc43fad6592	3fc2bd45-8cf9-420d-b900-a0fee703731d	g.chr19:54579141C>T	ENST00000432826.1	-	2	88	c.64G>A	c.(64-66)Gga>Aga	p.G22R	TARM1_ENST00000446034.2_Missense_Mutation_p.G30R	NM_001135686.1	NP_001129158.2	B6A8C7	TARM1_HUMAN	T cell-interacting, activating receptor on myeloid cells 1	22						integral component of membrane (GO:0016021)				endometrium(1)|stomach(2)	3						TCACCATCTCCCCTTGTGTCT	0.557																																																	0													186.0	209.0	202.0					19																	54579141		692	1591	2283	SO:0001583	missense	0				CCDS46173.1	19q13.42	2013-01-29			ENSG00000248385	ENSG00000248385		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	37250	protein-coding gene	gene with protein product							Standard	XM_005258952		Approved		uc010yei.1	B6A8C7		ENST00000432826.1:c.64G>A	19.37:g.54579141C>T	ENSP00000439454:p.Gly22Arg		B4DWY4	Missense_Mutation	SNP	smart_Ig_sub	p.G22R	ENST00000432826.1	37	c.64	CCDS46173.1	19	.	.	.	.	.	.	.	.	.	.	.	4.602	0.111804	0.08831	.	.	ENSG00000248385	ENST00000432826;ENST00000446034	T;T	0.00490	7.19;7.03	2.8	-1.82	0.07857	.	.	.	.	.	T	0.00178	0.0005	N	0.02539	-0.55	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.24048	-1.0171	9	0.41790	T	0.15	.	6.7034	0.23236	0.0:0.5464:0.0:0.4536	.	22	B6A8C7	TARM1_HUMAN	R	22;30	ENSP00000439454:G22R;ENSP00000441055:G30R	ENSP00000439454:G22R	G	-	1	0	TARM1	59270953	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.512000	0.06313	-0.412000	0.07519	0.609000	0.83330	GGA	TARM1	-	NULL	ENSG00000248385		0.557	TARM1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	TARM1	HGNC	protein_coding	OTTHUMT00000465679.1		0.00	25	0	C	NM_001135686		54579141	-1			no_errors	ENST00000432826	ensembl	human	known	74_37	missense	100.00	0	2	SNP	0.000	T
TBX22	50945	genome.wustl.edu	37	X	79283495	79283495	+	Missense_Mutation	SNP	T	T	C			TCGA-R6-A6L4-01A-11D-A31U-09	TCGA-R6-A6L4-10A-01D-A31U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	73e30098-463c-4d83-b6f7-dcc43fad6592	3fc2bd45-8cf9-420d-b900-a0fee703731d	g.chrX:79283495T>C	ENST00000373294.5	+	7	897	c.869T>C	c.(868-870)gTa>gCa	p.V290A	TBX22_ENST00000373291.1_Missense_Mutation_p.V170A|TBX22_ENST00000442340.1_Missense_Mutation_p.V170A|TBX22_ENST00000373296.3_Missense_Mutation_p.V290A	NM_016954.2	NP_058650.1	Q9Y458	TBX22_HUMAN	T-box 22	290					multicellular organismal development (GO:0007275)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|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)			breast(2)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(13)|lung(38)|ovary(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	65						TTTAGGGGTGTATTGGATGGG	0.373																																																	0													91.0	82.0	85.0					X																	79283495		2203	4300	6503	SO:0001583	missense	0			AL031000	CCDS14445.1, CCDS43975.1	Xq21.1	2011-02-11			ENSG00000122145	ENSG00000122145		"""T-boxes"""	11600	protein-coding gene	gene with protein product		300307	"""cleft palate and/or ankyloglossia"""	CPX, CLPA		11559848, 14729838	Standard	NM_001109878		Approved		uc004edj.1	Q9Y458	OTTHUMG00000021901	ENST00000373294.5:c.869T>C	X.37:g.79283495T>C	ENSP00000362390:p.Val290Ala		Q5JZ06|Q96LC0|Q9HBF1	Missense_Mutation	SNP	pfam_TF_T-box,superfamily_p53-like_TF_DNA-bd,smart_TF_T-box,pfscan_TF_T-box,prints_TF_T-box	p.V290A	ENST00000373294.5	37	c.869	CCDS14445.1	X	.	.	.	.	.	.	.	.	.	.	t	0.099	-1.154920	0.01700	.	.	ENSG00000122145	ENST00000373296;ENST00000442340;ENST00000373294;ENST00000373291	D;D;D;D	0.86366	-2.11;-1.83;-2.11;-1.83	3.88	2.7	0.31948	.	0.518829	0.17552	N	0.170128	T	0.81837	0.4907	M	0.64997	1.995	0.43000	D	0.994519	B	0.10296	0.003	B	0.09377	0.004	T	0.70267	-0.4919	10	0.15952	T	0.53	.	7.7656	0.28978	0.0:0.1049:0.0:0.8951	.	290	Q9Y458	TBX22_HUMAN	A	290;170;290;170	ENSP00000362393:V290A;ENSP00000396394:V170A;ENSP00000362390:V290A;ENSP00000362388:V170A	ENSP00000362388:V170A	V	+	2	0	TBX22	79170151	1.000000	0.71417	0.962000	0.40283	0.485000	0.33311	4.652000	0.61454	0.501000	0.28013	-0.326000	0.08463	GTA	TBX22	-	NULL	ENSG00000122145		0.373	TBX22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TBX22	HGNC	protein_coding	OTTHUMT00000057334.1		0.00	74	0	T	NM_016954		79283495	+1			no_errors	ENST00000373294	ensembl	human	known	74_37	missense	7.69	48	4	SNP	0.994	C
TGM3	7053	genome.wustl.edu	37	20	2291025	2291025	+	Missense_Mutation	SNP	T	T	G			TCGA-R6-A6L4-01A-11D-A31U-09	TCGA-R6-A6L4-10A-01D-A31U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	73e30098-463c-4d83-b6f7-dcc43fad6592	3fc2bd45-8cf9-420d-b900-a0fee703731d	g.chr20:2291025T>G	ENST00000381458.5	+	3	446	c.383T>G	c.(382-384)cTt>cGt	p.L128R		NM_003245.3	NP_003236.3	Q08188	TGM3_HUMAN	transglutaminase 3	128					cell envelope organization (GO:0043163)|cellular protein modification process (GO:0006464)|hair follicle morphogenesis (GO:0031069)|keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)|protein tetramerization (GO:0051262)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)	calcium ion binding (GO:0005509)|catalytic activity (GO:0003824)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)|transferase activity, transferring acyl groups (GO:0016746)			breast(3)|cervix(1)|endometrium(1)|kidney(4)|large_intestine(11)|lung(10)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(2)	39					L-Glutamine(DB00130)	TCTGTGAAACTTGGGACGTTC	0.537																																																	0													192.0	182.0	186.0					20																	2291025		2203	4300	6503	SO:0001583	missense	0			L10386	CCDS33435.1	20q11.2	2013-05-02	2013-05-02		ENSG00000125780	ENSG00000125780	2.3.2.13	"""Transglutaminases"""	11779	protein-coding gene	gene with protein product	"""E polypeptide, protein-glutamine-gamma-glutamyltransferase"""	600238	"""transglutaminase 3 (E polypeptide, protein-glutamine-gamma-glutamyltransferase)"""			7851911, 9452468	Standard	NM_003245		Approved	TGE	uc002wfx.4	Q08188	OTTHUMG00000031690	ENST00000381458.5:c.383T>G	20.37:g.2291025T>G	ENSP00000370867:p.Leu128Arg		A8K5N6|B2RCR6|D3DVX1|O95933|Q32ML9|Q32MM0	Missense_Mutation	SNP	pfam_Transglutaminase_C,pfam_Transglutaminase_N,pfam_Transglutaminase-like,superfamily_Ig_E-set,superfamily_Transglutaminase_C,smart_Transglutaminase-like	p.L128R	ENST00000381458.5	37	c.383	CCDS33435.1	20	.	.	.	.	.	.	.	.	.	.	T	19.16	3.773635	0.69992	.	.	ENSG00000125780	ENST00000381458;ENST00000420960	D	0.93189	-3.18	5.34	5.34	0.76211	Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.509987	0.20845	N	0.084634	D	0.96962	0.9008	M	0.91406	3.205	0.48901	D	0.999722	D	0.89917	1.0	D	0.64410	0.925	D	0.97612	1.0130	10	0.87932	D	0	.	13.2685	0.60148	0.0:0.0:0.0:1.0	.	128	Q08188	TGM3_HUMAN	R	128	ENSP00000370867:L128R	ENSP00000370867:L128R	L	+	2	0	TGM3	2239025	0.191000	0.23288	0.602000	0.28890	0.044000	0.14063	2.930000	0.48924	2.021000	0.59480	0.379000	0.24179	CTT	TGM3	-	superfamily_Ig_E-set	ENSG00000125780		0.537	TGM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TGM3	HGNC	protein_coding	OTTHUMT00000077579.2		0.00	30	0	T	NM_003245		2291025	+1			no_errors	ENST00000381458	ensembl	human	known	74_37	missense	29.17	34	14	SNP	0.959	G
THAP9	79725	genome.wustl.edu	37	4	83838327	83838327	+	Missense_Mutation	SNP	C	C	T			TCGA-R6-A6L4-01A-11D-A31U-09	TCGA-R6-A6L4-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	73e30098-463c-4d83-b6f7-dcc43fad6592	3fc2bd45-8cf9-420d-b900-a0fee703731d	g.chr4:83838327C>T	ENST00000302236.5	+	5	1013	c.962C>T	c.(961-963)aCt>aTt	p.T321I	LIN54_ENST00000505905.1_Intron	NM_024672.4	NP_078948.3	Q9H5L6	THAP9_HUMAN	THAP domain containing 9	321					DNA integration (GO:0015074)|DNA recombination (GO:0006310)|transposition, DNA-mediated (GO:0006313)		metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|transferase activity (GO:0016740)|transposase activity (GO:0004803)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(4)|large_intestine(13)|lung(5)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(3)	33		Hepatocellular(203;0.114)				GCTTCAGAAACTGTTTTGTTA	0.433																																																	0													135.0	127.0	129.0					4																	83838327		2203	4300	6503	SO:0001583	missense	0			AK091412	CCDS3598.1	4q21.3	2013-01-25			ENSG00000168152	ENSG00000168152		"""THAP (C2CH-type zinc finger) domain containing"""	23192	protein-coding gene	gene with protein product		612537				12575992	Standard	NM_024672		Approved	FLJ34093	uc003hnt.2	Q9H5L6	OTTHUMG00000130291	ENST00000302236.5:c.962C>T	4.37:g.83838327C>T	ENSP00000305533:p.Thr321Ile		B3KRE2|Q59AC9	Missense_Mutation	SNP	pfam_Znf_C2CH,smart_Znf_C2CH,pfscan_Znf_C2CH	p.T321I	ENST00000302236.5	37	c.962	CCDS3598.1	4	.	.	.	.	.	.	.	.	.	.	C	10.09	1.254900	0.22965	.	.	ENSG00000168152	ENST00000302236;ENST00000536314	T	0.35973	1.28	3.7	3.7	0.42460	.	0.194047	0.25575	N	0.029732	T	0.23210	0.0561	L	0.36672	1.1	0.80722	D	1	P	0.39809	0.689	B	0.34093	0.175	T	0.02567	-1.1140	10	0.27082	T	0.32	-10.5834	9.4603	0.38781	0.0:0.8951:0.0:0.1049	.	321	Q9H5L6	THAP9_HUMAN	I	321	ENSP00000305533:T321I	ENSP00000305533:T321I	T	+	2	0	THAP9	84057351	0.885000	0.30320	0.913000	0.36048	0.001000	0.01503	1.567000	0.36407	2.367000	0.80283	0.650000	0.86243	ACT	THAP9	-	NULL	ENSG00000168152		0.433	THAP9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	THAP9	HGNC	protein_coding	OTTHUMT00000252633.1		0.00	72	0	C	NM_024672		83838327	+1			no_errors	ENST00000302236	ensembl	human	known	74_37	missense	43.48	26	20	SNP	0.927	T
TIGD6	81789	genome.wustl.edu	37	5	149375789	149375789	+	Silent	SNP	G	G	T			TCGA-R6-A6L4-01A-11D-A31U-09	TCGA-R6-A6L4-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	73e30098-463c-4d83-b6f7-dcc43fad6592	3fc2bd45-8cf9-420d-b900-a0fee703731d	g.chr5:149375789G>T	ENST00000296736.3	-	2	897	c.123C>A	c.(121-123)ccC>ccA	p.P41P	TIGD6_ENST00000515406.2_Silent_p.P41P	NM_030953.3	NP_112215.1	Q17RP2	TIGD6_HUMAN	tigger transposable element derived 6	41	HTH psq-type. {ECO:0000255|PROSITE- ProRule:PRU00320}.					nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|ovary(2)|prostate(1)|stomach(1)	10			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			ATAAAGTAGAGGGAGTGATAC	0.483																																																	0													60.0	65.0	63.0					5																	149375789		2203	4300	6503	SO:0001819	synonymous_variant	0			AK056604	CCDS4301.1	5q33.1	2008-02-05			ENSG00000164296	ENSG00000164296			18332	protein-coding gene	gene with protein product						11230166	Standard	NM_030953		Approved	DKFZp761E2110	uc003lrj.3	Q17RP2	OTTHUMG00000130045	ENST00000296736.3:c.123C>A	5.37:g.149375789G>T			B3KTZ8|Q96MQ4|Q9H0X7	Silent	SNP	pfam_DDE_SF_endonuclease_CENPB-like,pfam_HTH_CenpB_DNA-bd_dom,pfam_HTH_Psq,superfamily_Homeodomain-like,smart_HTH_CenpB_DNA-bd_dom,pfscan_HTH_Psq	p.P41	ENST00000296736.3	37	c.123	CCDS4301.1	5																																																																																			TIGD6	-	pfam_HTH_Psq,superfamily_Homeodomain-like,pfscan_HTH_Psq	ENSG00000164296		0.483	TIGD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TIGD6	HGNC	protein_coding	OTTHUMT00000252324.1		0.00	56	0	G	NM_030953		149375789	-1			no_errors	ENST00000296736	ensembl	human	known	74_37	silent	6.78	55	4	SNP	0.948	T
TMTC1	83857	genome.wustl.edu	37	12	29670402	29670402	+	Silent	SNP	A	A	C			TCGA-R6-A6L4-01A-11D-A31U-09	TCGA-R6-A6L4-10A-01D-A31U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	73e30098-463c-4d83-b6f7-dcc43fad6592	3fc2bd45-8cf9-420d-b900-a0fee703731d	g.chr12:29670402A>C	ENST00000539277.1	-	14	2185	c.2127T>G	c.(2125-2127)gcT>gcG	p.A709A	RP11-310I24.1_ENST00000549070.1_RNA|TMTC1_ENST00000552618.1_Silent_p.A733A|TMTC1_ENST00000551659.1_Silent_p.A771A|TMTC1_ENST00000319685.8_5'UTR|TMTC1_ENST00000256062.5_Silent_p.A601A	NM_001193451.1	NP_001180380.1	Q8IUR5	TMTC1_HUMAN	transmembrane and tetratricopeptide repeat containing 1	709						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)					GAAGTGCTGCAGCTTCCTGGT	0.512																																																	0													153.0	146.0	148.0					12																	29670402		2203	4300	6503	SO:0001819	synonymous_variant	0				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	ENST00000539277.1:c.2127T>G	12.37:g.29670402A>C			D0EP37|F5H8B5|Q6PIU4|Q6ZSM5|Q96N52|Q9BXM2	Silent	SNP	pfam_TPR_1,pfam_TPR_2,pfam_DUF1736,pfam_PIK-rel_kinase_FAT,pfam_TPR-3,smart_HAT,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	p.A601	ENST00000539277.1	37	c.1803	CCDS53772.1	12																																																																																			TMTC1	-	pfam_TPR_1,pfam_TPR_2,pfam_TPR-3,smart_TPR_repeat,pfscan_TPR_repeat,pfscan_TPR-contain_dom	ENSG00000133687		0.512	TMTC1-002	PUTATIVE	basic|CCDS	protein_coding	TMTC1	HGNC	protein_coding	OTTHUMT00000403509.1		0.00	61	0	A	NM_031920		29670402	-1			no_errors	ENST00000256062	ensembl	human	known	74_37	silent	12.50	28	4	SNP	0.000	C
TNR	7143	genome.wustl.edu	37	1	175335227	175335227	+	Missense_Mutation	SNP	A	A	G			TCGA-R6-A6L4-01A-11D-A31U-09	TCGA-R6-A6L4-10A-01D-A31U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	73e30098-463c-4d83-b6f7-dcc43fad6592	3fc2bd45-8cf9-420d-b900-a0fee703731d	g.chr1:175335227A>G	ENST00000367674.2	-	11	2809	c.2101T>C	c.(2101-2103)Tcc>Ccc	p.S701P	TNR_ENST00000263525.2_Missense_Mutation_p.S701P			Q92752	TENR_HUMAN	tenascin R	701	Fibronectin type-III 5. {ECO:0000255|PROSITE-ProRule:PRU00316}.				associative learning (GO:0008306)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|locomotory exploration behavior (GO:0035641)|long-term synaptic potentiation (GO:0060291)|negative regulation of axon extension involved in regeneration (GO:0048692)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of synaptic transmission (GO:0050805)|neuromuscular process controlling balance (GO:0050885)|neuron cell-cell adhesion (GO:0007158)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transmission of nerve impulse (GO:0051971)|synapse organization (GO:0050808)|telencephalon cell migration (GO:0022029)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perineuronal net (GO:0072534)|proteinaceous extracellular matrix (GO:0005578)				NS(3)|breast(7)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(29)|lung(98)|ovary(4)|pancreas(5)|prostate(4)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	177	Renal(580;0.146)					AGGGAGATGGAGGTCTCCGAG	0.532																																																	0													123.0	102.0	109.0					1																	175335227		2203	4300	6503	SO:0001583	missense	0			X98085	CCDS1318.1	1q24	2013-02-11	2012-07-12		ENSG00000116147	ENSG00000116147		"""Fibrinogen C domain containing"", ""Fibronectin type III domain containing"""	11953	protein-coding gene	gene with protein product	"""restrictin"", ""janusin"""	601995				8626505, 8940128	Standard	NM_003285		Approved		uc009wwu.1	Q92752	OTTHUMG00000034876	ENST00000367674.2:c.2101T>C	1.37:g.175335227A>G	ENSP00000356646:p.Ser701Pro		C9J563|Q15568|Q5R3G0	Missense_Mutation	SNP	pfam_Fibronectin_type3,pfam_Fibrinogen_a/b/g_C_dom,pfam_EGF_extracell,superfamily_Fibrinogen_a/b/g_C_dom,superfamily_Fibronectin_type3,smart_EG-like_dom,smart_Fibronectin_type3,smart_Fibrinogen_a/b/g_C_dom,pfscan_Fibronectin_type3	p.S701P	ENST00000367674.2	37	c.2101	CCDS1318.1	1	.	.	.	.	.	.	.	.	.	.	A	22.2	4.262638	0.80358	.	.	ENSG00000116147	ENST00000367674;ENST00000263525;ENST00000367673	T;T	0.63417	-0.04;-0.04	5.92	4.76	0.60689	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.058840	0.64402	D	0.000002	T	0.80644	0.4662	M	0.92122	3.275	0.45366	D	0.998353	D	0.69078	0.997	D	0.62955	0.909	T	0.83287	-0.0035	10	0.87932	D	0	.	10.0375	0.42137	0.7308:0.0:0.0:0.2692	.	701	Q92752	TENR_HUMAN	P	701	ENSP00000356646:S701P;ENSP00000263525:S701P	ENSP00000263525:S701P	S	-	1	0	TNR	173601850	0.994000	0.37717	1.000000	0.80357	0.988000	0.76386	2.780000	0.47742	1.003000	0.39130	0.454000	0.30748	TCC	TNR	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000116147		0.532	TNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TNR	HGNC	protein_coding	OTTHUMT00000084414.4		0.00	38	0	A	NM_003285		175335227	-1			no_errors	ENST00000263525	ensembl	human	known	74_37	missense	16.00	21	4	SNP	1.000	G
TOP1	7150	genome.wustl.edu	37	20	39744934	39744934	+	Missense_Mutation	SNP	A	A	C			TCGA-R6-A6L4-01A-11D-A31U-09	TCGA-R6-A6L4-10A-01D-A31U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	73e30098-463c-4d83-b6f7-dcc43fad6592	3fc2bd45-8cf9-420d-b900-a0fee703731d	g.chr20:39744934A>C	ENST00000361337.2	+	17	1974	c.1724A>C	c.(1723-1725)aAg>aCg	p.K575T	RP1-1J6.2_ENST00000454626.1_RNA	NM_003286.2	NP_003277.1	P11387	TOP1_HUMAN	topoisomerase (DNA) I	575					chromatin remodeling (GO:0006338)|chromosome segregation (GO:0007059)|DNA replication (GO:0006260)|DNA topological change (GO:0006265)|embryonic cleavage (GO:0040016)|phosphorylation (GO:0016310)|programmed cell death (GO:0012501)|response to drug (GO:0042493)|viral process (GO:0016032)	cytoplasmic mRNA processing body (GO:0000932)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perikaryon (GO:0043204)|replication fork protection complex (GO:0031298)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA topoisomerase type I activity (GO:0003917)|DNA topoisomerase type II (ATP-hydrolyzing) activity (GO:0003918)|poly(A) RNA binding (GO:0044822)			breast(5)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(11)|ovary(3)|prostate(1)|skin(2)|urinary_tract(1)	37		Myeloproliferative disorder(115;0.00878)			Irinotecan(DB00762)|Lucanthone(DB04967)|Sodium stibogluconate(DB05630)|Topotecan(DB01030)	ATTCTGAATAAGCATCTTCAG	0.478			T	NUP98	AML*																																			Dom	yes		20	20q12-q13.1	7150	topoisomerase (DNA) I		L	0													93.0	80.0	84.0					20																	39744934		2203	4300	6503	SO:0001583	missense	0				CCDS13312.1	20q12-q13.1	1990-06-22			ENSG00000198900	ENSG00000198900	5.99.1.2		11986	protein-coding gene	gene with protein product		126420					Standard	NM_003286		Approved		uc010ggd.1	P11387	OTTHUMG00000033057	ENST00000361337.2:c.1724A>C	20.37:g.39744934A>C	ENSP00000354522:p.Lys575Thr		A8KA78|E1P5W3|O43256|Q12855|Q12856|Q15610|Q5TFY3|Q9UJN0	Missense_Mutation	SNP	pfam_TopoI_DNA-bd_euk,pfam_TopoI_cat_euk,superfamily_TopoI_DNA-bd_euk,superfamily_DNA_brk_join_enz,smart_TopoI_euk,prints_TopoI	p.K575T	ENST00000361337.2	37	c.1724	CCDS13312.1	20	.	.	.	.	.	.	.	.	.	.	A	29.9	5.046216	0.93740	.	.	ENSG00000198900	ENST00000361337	T	0.47528	0.84	6.17	6.17	0.99709	DNA breaking-rejoining enzyme, catalytic core (1);DNA topoisomerase I, C-terminal, eukaryotic-type (1);DNA topoisomerase I, catalytic core, eukaryotic-type (1);DNA topoisomerase I, catalytic core, alpha-helical subdomain, eukaryotic-type (1);	0.000000	0.85682	D	0.000000	T	0.75700	0.3885	M	0.90922	3.16	0.80722	D	1	D	0.71674	0.998	D	0.75020	0.985	T	0.81284	-0.1002	10	0.72032	D	0.01	-19.4945	16.8222	0.85835	1.0:0.0:0.0:0.0	.	575	P11387	TOP1_HUMAN	T	575	ENSP00000354522:K575T	ENSP00000354522:K575T	K	+	2	0	TOP1	39178348	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.339000	0.96797	2.371000	0.80710	0.533000	0.62120	AAG	TOP1	-	pfam_TopoI_cat_euk,superfamily_DNA_brk_join_enz,smart_TopoI_euk	ENSG00000198900		0.478	TOP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TOP1	HGNC	protein_coding	OTTHUMT00000080397.2		0.00	67	0	A			39744934	+1			no_errors	ENST00000361337	ensembl	human	known	74_37	missense	30.30	23	10	SNP	1.000	C
TP53	7157	genome.wustl.edu	37	17	7578526	7578526	+	Missense_Mutation	SNP	C	C	A	rs587781991		TCGA-R6-A6L4-01A-11D-A31U-09	TCGA-R6-A6L4-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	73e30098-463c-4d83-b6f7-dcc43fad6592	3fc2bd45-8cf9-420d-b900-a0fee703731d	g.chr17:7578526C>A	ENST00000269305.4	-	5	593	c.404G>T	c.(403-405)tGc>tTc	p.C135F	TP53_ENST00000413465.2_Missense_Mutation_p.C135F|TP53_ENST00000455263.2_Missense_Mutation_p.C135F|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000445888.2_Missense_Mutation_p.C135F|TP53_ENST00000420246.2_Missense_Mutation_p.C135F|TP53_ENST00000359597.4_Missense_Mutation_p.C135F	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	135	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		C -> F (in sporadic cancers; somatic mutation).|C -> G (in sporadic cancers; somatic mutation).|C -> R (in sporadic cancers; somatic mutation).|C -> S (in sporadic cancers; somatic mutation).|C -> T (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|C -> W (in sporadic cancers; somatic mutation).|C -> Y (in sporadic cancers; somatic mutation; decreased E6-mediated binding to E6-AP).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.C135Y(60)|p.C135F(43)|p.C135S(8)|p.0?(8)|p.C42Y(4)|p.C3Y(4)|p.C135fs*9(3)|p.N131fs*27(2)|p.C3F(2)|p.C42F(2)|p.F134_T140>S(1)|p.K132_A138delKMFCQLA(1)|p.S127_Q136del10(1)|p.C135T(1)|p.V73fs*9(1)|p.C135fs*15(1)|p.C135fs*14(1)|p.Y126fs*11(1)|p.C3fs*9(1)|p.C42fs*9(1)|p.C135_A138delCQLA(1)|p.C42S(1)|p.M133fs*13(1)|p.C3S(1)|p.C135_T140delCQLAKT(1)|p.Q136fs*13(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	GGCCAGTTGGCAAAACATCTT	0.572		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)		yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"""L, E, M, O"""	152	Substitution - Missense(126)|Deletion - Frameshift(10)|Whole gene deletion(8)|Deletion - In frame(4)|Insertion - Frameshift(3)|Complex - deletion inframe(1)	large_intestine(19)|breast(17)|oesophagus(16)|haematopoietic_and_lymphoid_tissue(13)|urinary_tract(13)|upper_aerodigestive_tract(12)|prostate(11)|lung(9)|ovary(9)|liver(7)|bone(6)|stomach(5)|central_nervous_system(5)|soft_tissue(2)|autonomic_ganglia(2)|eye(1)|kidney(1)|pancreas(1)|skin(1)|NS(1)|pituitary(1)											50.0	50.0	50.0					17																	7578526		2203	4300	6503	SO:0001583	missense	0	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.404G>T	17.37:g.7578526C>A	ENSP00000269305:p.Cys135Phe		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Missense_Mutation	SNP	pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor	p.C135F	ENST00000269305.4	37	c.404	CCDS11118.1	17	.	.	.	.	.	.	.	.	.	.	C	24.8	4.574878	0.86542	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315;ENST00000508793	D;D;D;D;D;D;D;D;D	0.99797	-6.79;-6.79;-6.79;-6.79;-6.79;-6.79;-6.79;-6.79;-6.79	5.48	5.48	0.80851	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99771	0.9906	M	0.85945	2.785	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;1.0;0.993;1.0;1.0;1.0;1.0	D;D;P;D;D;D;D	0.97110	0.997;1.0;0.904;1.0;1.0;1.0;1.0	D	0.97349	0.9962	10	0.72032	D	0.01	-26.815	17.2272	0.86973	0.0:1.0:0.0:0.0	.	96;135;135;42;135;135;135	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	F	135;135;135;135;135;135;124;42;3;42;3;135	ENSP00000410739:C135F;ENSP00000352610:C135F;ENSP00000269305:C135F;ENSP00000398846:C135F;ENSP00000391127:C135F;ENSP00000391478:C135F;ENSP00000425104:C3F;ENSP00000423862:C42F;ENSP00000424104:C135F	ENSP00000269305:C135F	C	-	2	0	TP53	7519251	1.000000	0.71417	1.000000	0.80357	0.794000	0.44872	7.772000	0.85439	2.733000	0.93635	0.655000	0.94253	TGC	TP53	-	pfam_p53_DNA-bd,superfamily_p53-like_TF_DNA-bd,prints_p53_tumour_suppressor	ENSG00000141510		0.572	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	HGNC	protein_coding	OTTHUMT00000367397.1		0.00	41	0	C	NM_000546		7578526	-1			no_errors	ENST00000269305	ensembl	human	known	74_37	missense	40.00	9	6	SNP	1.000	A
TPO	7173	genome.wustl.edu	37	2	1440109	1440109	+	Silent	SNP	T	T	C			TCGA-R6-A6L4-01A-11D-A31U-09	TCGA-R6-A6L4-10A-01D-A31U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	73e30098-463c-4d83-b6f7-dcc43fad6592	3fc2bd45-8cf9-420d-b900-a0fee703731d	g.chr2:1440109T>C	ENST00000345913.4	+	5	526	c.435T>C	c.(433-435)acT>acC	p.T145T	TPO_ENST00000382269.3_Silent_p.T145T|TPO_ENST00000329066.4_Silent_p.T145T|TPO_ENST00000497517.2_Intron|TPO_ENST00000349624.3_Silent_p.T145T|TPO_ENST00000346956.3_Silent_p.T145T|TPO_ENST00000337415.3_Silent_p.T145T|TPO_ENST00000382201.3_Silent_p.T145T|TPO_ENST00000382198.1_Silent_p.T145T|TPO_ENST00000539820.1_Silent_p.T145T	NM_000547.5	NP_000538.3	P07202	PERT_HUMAN	thyroid peroxidase	145					cellular nitrogen compound metabolic process (GO:0034641)|embryonic hemopoiesis (GO:0035162)|hormone biosynthetic process (GO:0042446)|hydrogen peroxide catabolic process (GO:0042744)|small molecule metabolic process (GO:0044281)|thyroid hormone generation (GO:0006590)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|heme binding (GO:0020037)|iodide peroxidase activity (GO:0004447)|peroxidase activity (GO:0004601)			breast(1)|central_nervous_system(3)|endometrium(8)|kidney(4)|large_intestine(14)|liver(2)|lung(33)|ovary(8)|pancreas(6)|prostate(4)|skin(7)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	95	all_hematologic(175;0.0487)|Acute lymphoblastic leukemia(172;0.0627)	all_cancers(51;0.0338)		all cancers(51;0.0356)|OV - Ovarian serous cystadenocarcinoma(76;0.0748)|Epithelial(75;0.12)	Carbimazole(DB00389)|Dextrothyroxine(DB00509)|Methimazole(DB00763)|Propylthiouracil(DB00550)	GCCCAAACACTTGCCTGGCGA	0.433																																																	0													137.0	131.0	133.0					2																	1440109		2203	4300	6503	SO:0001819	synonymous_variant	0				CCDS1643.1, CCDS1644.1, CCDS1646.1	2p25	2008-02-05			ENSG00000115705	ENSG00000115705	1.11.1.7		12015	protein-coding gene	gene with protein product		606765					Standard	NM_175722		Approved	TPX	uc002qww.3	P07202	OTTHUMG00000090271	ENST00000345913.4:c.435T>C	2.37:g.1440109T>C			P09934|P09935|Q8IUL0|Q8NF94|Q8NF95|Q8NF96|Q8NF97|Q8TCI9	Silent	SNP	pfam_Haem_peroxidase_animal,pfam_EGF-like_Ca-bd_dom,superfamily_Haem_peroxidase,superfamily_Sushi_SCR_CCP,smart_Sushi_SCR_CCP,smart_EGF-like_Ca-bd_dom,smart_EG-like_dom,pfscan_EG-like_dom,pfscan_Sushi_SCR_CCP,pfscan_Haem_peroxidase_animal,prints_Haem_peroxidase_animal_subgr	p.T145	ENST00000345913.4	37	c.435	CCDS1643.1	2																																																																																			TPO	-	superfamily_Haem_peroxidase,pfscan_Haem_peroxidase_animal	ENSG00000115705		0.433	TPO-202	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TPO	HGNC	protein_coding	OTTHUMT00000206594.2		0.00	64	0	T	NM_000547		1440109	+1			no_errors	ENST00000329066	ensembl	human	known	74_37	silent	20.37	43	11	SNP	0.017	C
TRIM27	5987	genome.wustl.edu	37	6	28891220	28891220	+	Missense_Mutation	SNP	G	G	A			TCGA-R6-A6L4-01A-11D-A31U-09	TCGA-R6-A6L4-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	73e30098-463c-4d83-b6f7-dcc43fad6592	3fc2bd45-8cf9-420d-b900-a0fee703731d	g.chr6:28891220G>A	ENST00000377199.3	-	1	546	c.190C>T	c.(190-192)Cac>Tac	p.H64Y	TRIM27_ENST00000377194.3_Missense_Mutation_p.H64Y|TRIM27_ENST00000498117.1_5'Flank	NM_006510.4	NP_006501.1	P14373	TRI27_HUMAN	tripartite motif containing 27	64					Arp2/3 complex-mediated actin nucleation (GO:0034314)|cell proliferation (GO:0008283)|innate immune response (GO:0045087)|interferon-gamma secretion (GO:0072643)|negative regulation of adaptive immune response (GO:0002820)|negative regulation of calcium ion import (GO:0090281)|negative regulation of gene expression, epigenetic (GO:0045814)|negative regulation of interleukin-2 secretion (GO:1900041)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of tumor necrosis factor production (GO:0032720)|negative regulation of viral release from host cell (GO:1902187)|negative regulation of viral transcription (GO:0032897)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein K63-linked ubiquitination (GO:0070534)|protein trimerization (GO:0070206)|retrograde transport, endosome to Golgi (GO:0042147)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligase activity (GO:0016874)|metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(2)|lung(6)|ovary(1)	10						GGCCGCATGTGCCTCTGCGGG	0.697			T	RET	papillary thyroid																																			Dom	yes		6	6p22	5987	tripartite motif-containing 27		E	0													25.0	23.0	23.0					6																	28891220		2201	4297	6498	SO:0001583	missense	0			Z58939	CCDS4654.1	6p22	2013-01-09	2011-01-25	2006-09-26	ENSG00000204713	ENSG00000204713		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	9975	protein-coding gene	gene with protein product		602165	"""ret finger protein"", ""tripartite motif-containing 27"""	RFP		8114113	Standard	NM_006510		Approved	RNF76	uc003nlr.3	P14373	OTTHUMG00000031215	ENST00000377199.3:c.190C>T	6.37:g.28891220G>A	ENSP00000366404:p.His64Tyr		A2BE15|Q5RJA8|Q5ST26|Q6LA73|Q6NXR9|Q9BZY6|Q9UJL3	Missense_Mutation	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,prints_Znf_B-box_chordata	p.H64Y	ENST00000377199.3	37	c.190	CCDS4654.1	6	.	.	.	.	.	.	.	.	.	.	G	17.36	3.371178	0.61624	.	.	ENSG00000204713	ENST00000377199;ENST00000377194	D;D	0.83837	-1.77;-1.77	4.48	4.48	0.54585	Zinc finger, RING/FYVE/PHD-type (1);	0.000000	0.49305	D	0.000155	T	0.57460	0.2055	N	0.08118	0	0.35298	D	0.782775	P;B;P	0.49185	0.92;0.438;0.898	B;B;B	0.40901	0.343;0.138;0.253	T	0.71174	-0.4670	10	0.72032	D	0.01	.	13.3601	0.60650	0.0:0.0:1.0:0.0	.	131;64;64	Q59EC6;P14373-2;P14373	.;.;TRI27_HUMAN	Y	64	ENSP00000366404:H64Y;ENSP00000366399:H64Y	ENSP00000366399:H64Y	H	-	1	0	TRIM27	28999199	0.000000	0.05858	1.000000	0.80357	0.956000	0.61745	-0.244000	0.08903	2.423000	0.82170	0.555000	0.69702	CAC	TRIM27	-	NULL	ENSG00000204713		0.697	TRIM27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM27	HGNC	protein_coding	OTTHUMT00000076442.2		0.00	16	0	G	NM_030950		28891220	-1			no_errors	ENST00000377199	ensembl	human	known	74_37	missense	23.53	13	4	SNP	1.000	A
TRPC1	7220	genome.wustl.edu	37	3	142503559	142503559	+	Missense_Mutation	SNP	C	C	T			TCGA-R6-A6L4-01A-11D-A31U-09	TCGA-R6-A6L4-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	73e30098-463c-4d83-b6f7-dcc43fad6592	3fc2bd45-8cf9-420d-b900-a0fee703731d	g.chr3:142503559C>T	ENST00000476941.1	+	7	1460	c.974C>T	c.(973-975)tCt>tTt	p.S325F	TRPC1_ENST00000273482.6_Missense_Mutation_p.S291F	NM_001251845.1	NP_001238774.1	P48995	TRPC1_HUMAN	transient receptor potential cation channel, subfamily C, member 1	325					axon guidance (GO:0007411)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|response to calcium ion (GO:0051592)|saliva secretion (GO:0046541)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|costamere (GO:0043034)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|sarcomere (GO:0030017)	calcium channel activity (GO:0005262)|cation channel activity (GO:0005261)|inositol 1,4,5 trisphosphate binding (GO:0070679)|ion channel binding (GO:0044325)|store-operated calcium channel activity (GO:0015279)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|skin(2)|stomach(3)|urinary_tract(1)	37						GTCTCCCAGTCTAACTGCCAG	0.393																																																	0													88.0	79.0	82.0					3																	142503559		2203	4300	6503	SO:0001583	missense	0			X89066	CCDS3126.1, CCDS58856.1	3q23	2011-12-14			ENSG00000144935	ENSG00000144935		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	12333	protein-coding gene	gene with protein product		602343				7568191, 16382100	Standard	NM_001251845		Approved	HTRP-1	uc003evc.3	P48995	OTTHUMG00000159301	ENST00000476941.1:c.974C>T	3.37:g.142503559C>T	ENSP00000419313:p.Ser325Phe		Q14CE4	Missense_Mutation	SNP	pfam_TRP_dom,pfam_Ion_trans_dom,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,prints_TRPC1_channel,prints_TRPC_channel,tigrfam_TRP_channel	p.S325F	ENST00000476941.1	37	c.974	CCDS58856.1	3	.	.	.	.	.	.	.	.	.	.	C	26.1	4.705886	0.89018	.	.	ENSG00000144935	ENST00000476941;ENST00000273482	T;T	0.63580	-0.05;-0.05	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	T	0.74703	0.3751	L	0.42245	1.32	0.80722	D	1	D;D	0.69078	0.99;0.997	D;D	0.71656	0.974;0.916	T	0.75808	-0.3187	10	0.87932	D	0	-15.5167	19.9576	0.97228	0.0:1.0:0.0:0.0	.	325;291	P48995;P48995-2	TRPC1_HUMAN;.	F	325;291	ENSP00000419313:S325F;ENSP00000273482:S291F	ENSP00000273482:S291F	S	+	2	0	TRPC1	143986249	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.452000	0.80683	2.706000	0.92434	0.591000	0.81541	TCT	TRPC1	-	tigrfam_TRP_channel	ENSG00000144935		0.393	TRPC1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TRPC1	HGNC	protein_coding	OTTHUMT00000354520.1		0.00	55	0	C	NM_003304		142503559	+1			no_errors	ENST00000476941	ensembl	human	known	74_37	missense	22.73	17	5	SNP	1.000	T
TRPV2	51393	genome.wustl.edu	37	17	16335477	16335477	+	Missense_Mutation	SNP	T	T	G			TCGA-R6-A6L4-01A-11D-A31U-09	TCGA-R6-A6L4-10A-01D-A31U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	73e30098-463c-4d83-b6f7-dcc43fad6592	3fc2bd45-8cf9-420d-b900-a0fee703731d	g.chr17:16335477T>G	ENST00000338560.7	+	12	2251	c.1852T>G	c.(1852-1854)Ttc>Gtc	p.F618V	TRPV2_ENST00000583241.1_3'UTR|TRPV2_ENST00000577397.1_Missense_Mutation_p.F188V	NM_016113.4	NP_057197.2	Q9Y5S1	TRPV2_HUMAN	transient receptor potential cation channel, subfamily V, member 2	618					calcium ion transmembrane transport (GO:0070588)|ion transmembrane transport (GO:0034220)|positive regulation of axon extension (GO:0045773)|positive regulation of calcium ion import (GO:0090280)|response to heat (GO:0009408)|response to temperature stimulus (GO:0009266)|sensory perception (GO:0007600)|transmembrane transport (GO:0055085)|transport (GO:0006810)	axonal growth cone (GO:0044295)|cell body (GO:0044297)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endomembrane system (GO:0012505)|growth cone membrane (GO:0032584)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|cation channel activity (GO:0005261)|ion channel activity (GO:0005216)|ion transmembrane transporter activity (GO:0015075)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|prostate(2)|stomach(3)	28				UCEC - Uterine corpus endometrioid carcinoma (92;0.0837)		GCAGCTGCACTTCCGCGGCAT	0.612																																																	0													79.0	74.0	76.0					17																	16335477		2203	4300	6503	SO:0001583	missense	0			AF129112	CCDS32576.1	17p11.2	2013-01-10			ENSG00000187688	ENSG00000187688		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	18082	protein-coding gene	gene with protein product		606676				10201375, 16382100	Standard	NM_016113		Approved	VRL, VRL-1, VRL1	uc002gpy.3	Q9Y5S1	OTTHUMG00000058989	ENST00000338560.7:c.1852T>G	17.37:g.16335477T>G	ENSP00000342222:p.Phe618Val		A6NML2|A8K0Z0|Q9Y670	Missense_Mutation	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_TRPV1-4_channel,tigrfam_TRP_channel	p.F618V	ENST00000338560.7	37	c.1852	CCDS32576.1	17	.	.	.	.	.	.	.	.	.	.	T	13.14	2.149062	0.37923	.	.	ENSG00000187688	ENST00000338560	D	0.87571	-2.27	4.81	4.81	0.61882	Ion transport (1);	0.210041	0.51477	D	0.000092	D	0.91640	0.7358	M	0.71206	2.165	0.41678	D	0.989271	D	0.55172	0.97	P	0.62298	0.9	D	0.92513	0.6018	10	0.62326	D	0.03	-23.6506	13.5891	0.61948	0.0:0.0:0.0:1.0	.	618	Q9Y5S1	TRPV2_HUMAN	V	618	ENSP00000342222:F618V	ENSP00000342222:F618V	F	+	1	0	TRPV2	16276202	1.000000	0.71417	0.998000	0.56505	0.905000	0.53344	4.743000	0.62110	1.820000	0.53075	0.369000	0.22263	TTC	TRPV2	-	prints_TRPV1-4_channel,tigrfam_TRP_channel	ENSG00000187688		0.612	TRPV2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TRPV2	HGNC	protein_coding	OTTHUMT00000130464.2		0.00	20	0	T	NM_016113		16335477	+1			no_errors	ENST00000338560	ensembl	human	known	74_37	missense	44.44	5	4	SNP	0.884	G
TTN	7273	genome.wustl.edu	37	2	179590368	179590368	+	Silent	SNP	T	T	G			TCGA-R6-A6L4-01A-11D-A31U-09	TCGA-R6-A6L4-10A-01D-A31U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	73e30098-463c-4d83-b6f7-dcc43fad6592	3fc2bd45-8cf9-420d-b900-a0fee703731d	g.chr2:179590368T>G	ENST00000591111.1	-	69	19836	c.19612A>C	c.(19612-19614)Aga>Cga	p.R6538R	TTN_ENST00000460472.2_Intron|RP11-171I2.1_ENST00000590024.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000589042.1_Silent_p.R6855R|TTN_ENST00000342992.6_Silent_p.R5611R|TTN-AS1_ENST00000585451.1_RNA			Q8WZ42	TITIN_HUMAN	titin	12140	Ig-like 47.				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)			GAGACAAATCTTGGTGGTTCT	0.428																																																	0													77.0	73.0	74.0					2																	179590368		1866	4099	5965	SO:0001819	synonymous_variant	0			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.19612A>C	2.37:g.179590368T>G			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_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_dom,pfscan_Ig-like_dom	p.R5611	ENST00000591111.1	37	c.16831		2																																																																																			TTN	-	pfam_Ig_I-set,superfamily_RNaseH-like_dom,pfscan_Ig-like_dom	ENSG00000155657		0.428	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1		0.00	29	0	T	NM_133378		179590368	-1			no_errors	ENST00000342992	ensembl	human	known	74_37	silent	36.36	14	8	SNP	0.918	G
TYK2	7297	genome.wustl.edu	37	19	10473098	10473098	+	Missense_Mutation	SNP	T	T	C			TCGA-R6-A6L4-01A-11D-A31U-09	TCGA-R6-A6L4-10A-01D-A31U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	73e30098-463c-4d83-b6f7-dcc43fad6592	3fc2bd45-8cf9-420d-b900-a0fee703731d	g.chr19:10473098T>C	ENST00000525621.1	-	11	1992	c.1511A>G	c.(1510-1512)aAg>aGg	p.K504R	TYK2_ENST00000529370.1_Missense_Mutation_p.K504R|TYK2_ENST00000264818.6_Missense_Mutation_p.K504R|TYK2_ENST00000524462.1_Missense_Mutation_p.K319R	NM_003331.4	NP_003322.3	P29597	TYK2_HUMAN	tyrosine kinase 2	504	SH2; atypical.				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)			AATGGGGAACTTTCGGAGCCG	0.667																																																	0													23.0	26.0	25.0					19																	10473098		2202	4300	6502	SO:0001583	missense	0				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.1511A>G	19.37:g.10473098T>C	ENSP00000431885:p.Lys504Arg		Q6QB10|Q96CH0	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_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_dom,prints_Tyr_kinase_non-rcpt_Jak/Tyk2,prints_Ser-Thr/Tyr_kinase_cat_dom,prints_Tyr_kinase_non-rcpt_TYK2_N	p.K504R	ENST00000525621.1	37	c.1511	CCDS12236.1	19	.	.	.	.	.	.	.	.	.	.	T	12.45	1.942933	0.34283	.	.	ENSG00000105397	ENST00000524462;ENST00000525621;ENST00000264818;ENST00000543792;ENST00000529370	T;T;T;T	0.25414	1.8;1.8;1.8;1.8	4.36	1.09	0.20402	SH2 motif (2);	0.265266	0.25450	N	0.030596	T	0.15003	0.0362	L	0.34521	1.04	0.27402	N	0.954819	B;B	0.16166	0.016;0.004	B;B	0.16289	0.015;0.009	T	0.14309	-1.0477	10	0.36615	T	0.2	-35.6302	3.9118	0.09207	0.157:0.1719:0.0:0.6711	.	504;504	E9PPF2;P29597	.;TYK2_HUMAN	R	319;504;504;251;504	ENSP00000433203:K319R;ENSP00000431885:K504R;ENSP00000264818:K504R;ENSP00000432728:K504R	ENSP00000264818:K504R	K	-	2	0	TYK2	10334098	0.994000	0.37717	0.163000	0.22734	0.060000	0.15804	3.579000	0.53900	-0.042000	0.13535	0.402000	0.26972	AAG	TYK2	-	smart_SH2,pirsf_Tyr_kinase_non-rcpt_Jak/Tyk2	ENSG00000105397		0.667	TYK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TYK2	HGNC	protein_coding	OTTHUMT00000389443.1		0.00	59	0	T			10473098	-1			no_errors	ENST00000264818	ensembl	human	known	74_37	missense	40.91	13	9	SNP	0.884	C
TTYH1	57348	genome.wustl.edu	37	19	54942356	54942356	+	Missense_Mutation	SNP	G	G	A			TCGA-R6-A6L4-01A-11D-A31U-09	TCGA-R6-A6L4-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	73e30098-463c-4d83-b6f7-dcc43fad6592	3fc2bd45-8cf9-420d-b900-a0fee703731d	g.chr19:54942356G>A	ENST00000376530.3	+	10	1215	c.1112G>A	c.(1111-1113)cGc>cAc	p.R371H	AC008746.3_ENST00000457113.1_RNA|TTYH1_ENST00000301194.4_Missense_Mutation_p.R371H|TTYH1_ENST00000376531.3_Missense_Mutation_p.R371H|TTYH1_ENST00000391739.3_Silent_p.P401P|TTYH1_ENST00000489425.1_3'UTR	NM_001201461.1|NM_020659.3	NP_001188390.1|NP_065710.1	Q9H313	TTYH1_HUMAN	tweety family member 1	371					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)		CTACACTGCCGCAGCCTGCAC	0.602																																																	0													79.0	72.0	74.0					19																	54942356		2203	4300	6503	SO:0001583	missense	0			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.1112G>A	19.37:g.54942356G>A	ENSP00000365713:p.Arg371His		B0VJY3|B0VJY4|B0VJY5|B2VAL9|Q5U682|Q68A17|Q6L750|Q6ZTE5|Q8WUU2	Missense_Mutation	SNP	pfam_Tweety	p.R371H	ENST00000376530.3	37	c.1112	CCDS12893.1	19	.	.	.	.	.	.	.	.	.	.	G	13.79	2.342983	0.41498	.	.	ENSG00000167614	ENST00000301194;ENST00000376530;ENST00000376531	T;T;T	0.19105	2.17;2.17;2.17	4.07	3.02	0.34903	.	0.000000	0.85682	D	0.000000	T	0.26085	0.0636	M	0.83774	2.66	0.80722	D	1	B;B;B;B	0.31040	0.305;0.099;0.268;0.009	B;B;B;B	0.26517	0.07;0.035;0.051;0.008	T	0.13335	-1.0513	10	0.66056	D	0.02	-16.5537	10.0833	0.42404	0.1013:0.0:0.8987:0.0	.	283;371;371;371	Q9H313-5;Q9H313-2;Q9H313-3;Q9H313	.;.;.;TTYH1_HUMAN	H	371	ENSP00000301194:R371H;ENSP00000365713:R371H;ENSP00000365714:R371H	ENSP00000301194:R371H	R	+	2	0	TTYH1	59634168	1.000000	0.71417	0.872000	0.34217	0.570000	0.35934	3.814000	0.55643	1.047000	0.40274	0.561000	0.74099	CGC	TTYH1	-	pfam_Tweety	ENSG00000167614		0.602	TTYH1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	TTYH1	HGNC	protein_coding	OTTHUMT00000140498.1		0.00	79	0	G			54942356	+1			no_errors	ENST00000376531	ensembl	human	known	74_37	missense	6.45	58	4	SNP	0.988	A
UGGT1	56886	genome.wustl.edu	37	2	128885000	128885000	+	Missense_Mutation	SNP	G	G	T	rs142963053	byFrequency	TCGA-R6-A6L4-01A-11D-A31U-09	TCGA-R6-A6L4-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	73e30098-463c-4d83-b6f7-dcc43fad6592	3fc2bd45-8cf9-420d-b900-a0fee703731d	g.chr2:128885000G>T	ENST00000259253.6	+	12	1247	c.1200G>T	c.(1198-1200)atG>atT	p.M400I	UGGT1_ENST00000375990.3_Missense_Mutation_p.M376I	NM_020120.3	NP_064505.1	Q9NYU2	UGGG1_HUMAN	UDP-glucose glycoprotein glucosyltransferase 1	400					'de novo' posttranslational protein folding (GO:0051084)|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 (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular vesicular exosome (GO:0070062)	UDP-glucose:glycoprotein glucosyltransferase activity (GO:0003980)|unfolded protein binding (GO:0051082)			NS(1)|breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(14)|lung(20)|ovary(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	63						GACTTCACATGGATTTAGATA	0.343																																																	0													81.0	83.0	82.0					2																	128885000		2203	4300	6503	SO:0001583	missense	0			AF227905	CCDS2154.1	2q14.3	2009-07-23	2009-07-23	2009-07-23	ENSG00000136731	ENSG00000136731			15663	protein-coding gene	gene with protein product		605897	"""UDP-glucose ceramide glucosyltransferase-like 1"""	UGCGL1		10694380	Standard	NM_020120		Approved	HUGT1	uc002tps.3	Q9NYU2	OTTHUMG00000131570	ENST00000259253.6:c.1200G>T	2.37:g.128885000G>T	ENSP00000259253:p.Met400Ile		Q53QP2|Q53SL3|Q8IW30|Q9H8I4	Missense_Mutation	SNP	pfam_UDP-g_GGtrans	p.M400I	ENST00000259253.6	37	c.1200	CCDS2154.1	2	.	.	.	.	.	.	.	.	.	.	G	1.368	-0.586867	0.03827	.	.	ENSG00000136731	ENST00000375990;ENST00000259253	T;T	0.22945	1.93;1.93	5.51	-1.42	0.08913	.	0.151953	0.56097	N	0.000022	T	0.02494	0.0076	N	0.00063	-2.32	0.21604	N	0.999623	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.34700	-0.9818	10	0.02654	T	1	.	1.0295	0.01535	0.215:0.1901:0.1121:0.4829	.	376;400	Q9NYU2-2;Q9NYU2	.;UGGG1_HUMAN	I	376;400	ENSP00000365158:M376I;ENSP00000259253:M400I	ENSP00000259253:M400I	M	+	3	0	UGGT1	128601470	1.000000	0.71417	0.980000	0.43619	0.947000	0.59692	0.840000	0.27600	-0.493000	0.06678	-1.799000	0.00621	ATG	UGGT1	-	NULL	ENSG00000136731		0.343	UGGT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	UGGT1	HGNC	protein_coding	OTTHUMT00000254435.2		0.00	53	0	G	NM_020120		128885000	+1			no_errors	ENST00000259253	ensembl	human	known	74_37	missense	5.88	32	2	SNP	0.980	T
UNC13A	23025	genome.wustl.edu	37	19	17746919	17746919	+	Missense_Mutation	SNP	C	C	A			TCGA-R6-A6L4-01A-11D-A31U-09	TCGA-R6-A6L4-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	73e30098-463c-4d83-b6f7-dcc43fad6592	3fc2bd45-8cf9-420d-b900-a0fee703731d	g.chr19:17746919C>A	ENST00000519716.2	-	26	3128	c.3129G>T	c.(3127-3129)aaG>aaT	p.K1043N	UNC13A_ENST00000551649.1_Missense_Mutation_p.K1043N|UNC13A_ENST00000252773.7_Missense_Mutation_p.K1043N|UNC13A_ENST00000552293.1_Missense_Mutation_p.K1043N|UNC13A_ENST00000428389.2_Missense_Mutation_p.K1131N|UNC13A_ENST00000550896.1_Missense_Mutation_p.K1041N	NM_001080421.2	NP_001073890.2	Q9UPW8	UN13A_HUMAN	unc-13 homolog A (C. elegans)	1043					beta-amyloid metabolic process (GO:0050435)|innervation (GO:0060384)|intracellular signal transduction (GO:0035556)|neuromuscular junction development (GO:0007528)|neurotransmitter secretion (GO:0007269)|positive regulation of neurotransmitter secretion (GO:0001956)|regulation of short-term neuronal synaptic plasticity (GO:0048172)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission, glutamatergic (GO:0035249)|synaptic vesicle docking involved in exocytosis (GO:0016081)|synaptic vesicle maturation (GO:0016188)	axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|neuromuscular junction (GO:0031594)|neuron projection (GO:0043005)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)|protein N-terminus binding (GO:0047485)|syntaxin-1 binding (GO:0017075)			breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|prostate(2)	61						AGTCGAGGTTCTTGATGCTGG	0.527																																																	0													72.0	69.0	70.0					19																	17746919		1938	4155	6093	SO:0001583	missense	0			AB028955	CCDS46013.1, CCDS46013.2	19p13.12	2008-02-05				ENSG00000130477			23150	protein-coding gene	gene with protein product		609894					Standard	NM_001080421		Approved	KIAA1032, Munc13-1	uc031rjv.1	Q9UPW8		ENST00000519716.2:c.3129G>T	19.37:g.17746919C>A	ENSP00000429562:p.Lys1043Asn		E5RHY9	Missense_Mutation	SNP	pfam_Munc13_subgr_dom-2,pfam_C2_dom,pfam_Ca-dep_secretion_activator,pfam_Prot_Kinase_C-like_PE/DAG-bd,superfamily_C2_dom,smart_C2_dom,smart_Prot_Kinase_C-like_PE/DAG-bd,pfscan_C2_dom,pfscan_Prot_Kinase_C-like_PE/DAG-bd,prints_C2_dom	p.K1131N	ENST00000519716.2	37	c.3393	CCDS46013.2	19	.	.	.	.	.	.	.	.	.	.	C	16.55	3.155621	0.57259	.	.	ENSG00000130477	ENST00000519716;ENST00000428389;ENST00000252773;ENST00000551649;ENST00000552293;ENST00000550896	D;D;D;T;T;D	0.82167	-1.56;-1.58;-1.56;-1.44;-1.43;-1.55	3.52	2.44	0.29823	Calcium-dependent secretion activator (1);	0.061993	0.64402	U	0.000007	D	0.84692	0.5528	M	0.61703	1.905	0.38724	D	0.953502	P	0.42993	0.797	P	0.53146	0.719	D	0.85835	0.1394	10	0.59425	D	0.04	-21.7854	8.8817	0.35378	0.0:0.8805:0.0:0.1195	.	1043	Q9UPW8	UN13A_HUMAN	N	1043;1131;1043;1043;1043;1041	ENSP00000429562:K1043N;ENSP00000400409:K1131N;ENSP00000252773:K1043N;ENSP00000447236:K1043N;ENSP00000447572:K1043N;ENSP00000446831:K1041N	ENSP00000252773:K1043N	K	-	3	2	UNC13A	17607919	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	1.080000	0.30779	1.808000	0.52836	0.305000	0.20034	AAG	UNC13A	-	pfam_Ca-dep_secretion_activator	ENSG00000130477		0.527	UNC13A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	UNC13A	HGNC	protein_coding	OTTHUMT00000376169.2		0.00	94	0	C	XM_038604		17746919	-1			no_errors	ENST00000428389	ensembl	human	known	74_37	missense	41.03	23	16	SNP	1.000	A
UNC80	285175	genome.wustl.edu	37	2	210699700	210699700	+	Missense_Mutation	SNP	T	T	G			TCGA-R6-A6L4-01A-11D-A31U-09	TCGA-R6-A6L4-10A-01D-A31U-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	73e30098-463c-4d83-b6f7-dcc43fad6592	3fc2bd45-8cf9-420d-b900-a0fee703731d	g.chr2:210699700T>G	ENST00000439458.1	+	18	3087	c.3007T>G	c.(3007-3009)Ttc>Gtc	p.F1003V	UNC80_ENST00000272845.6_Missense_Mutation_p.F998V	NM_032504.1	NP_115893.1	Q8N2C7	UNC80_HUMAN	unc-80 homolog (C. elegans)	1003					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(9)|ovary(1)|prostate(1)	20						ATGTCGCAGCTTCATGTCTGG	0.498																																																	0													177.0	162.0	167.0					2																	210699700		692	1591	2283	SO:0001583	missense	0			AK090815	CCDS2387.1, CCDS46504.1, CCDS2387.2	2q35	2009-08-17	2009-08-17	2009-08-17	ENSG00000144406	ENSG00000144406			26582	protein-coding gene	gene with protein product		612636	"""chromosome 2 open reading frame 21"""	C2orf21		19092807	Standard	NM_032504		Approved	FLJ33496, KIAA1843, UNC-80	uc010zjc.1	Q8N2C7	OTTHUMG00000132963	ENST00000439458.1:c.3007T>G	2.37:g.210699700T>G	ENSP00000391088:p.Phe1003Val		B2RN50|B4DQY9|B4DZB3|C4IXS8|C9J1U3|Q96JI4|Q96SS0	Missense_Mutation	SNP	NULL	p.F1003V	ENST00000439458.1	37	c.3007	CCDS46504.1	2	.	.	.	.	.	.	.	.	.	.	T	16.61	3.170794	0.57584	.	.	ENSG00000144406	ENST00000439458;ENST00000272845	T;T	0.32988	1.43;1.43	6.07	6.07	0.98685	.	0.219697	0.39834	N	0.001259	T	0.18841	0.0452	N	0.08118	0	0.80722	D	1	B	0.25609	0.13	B	0.24701	0.055	T	0.10683	-1.0619	10	0.23891	T	0.37	-22.7089	16.6407	0.85098	0.0:0.0:0.0:1.0	.	1003	Q8N2C7	UNC80_HUMAN	V	1003;998	ENSP00000391088:F1003V;ENSP00000272845:F998V	ENSP00000272845:F998V	F	+	1	0	UNC80	210407945	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.901000	0.75693	2.326000	0.78906	0.533000	0.62120	TTC	UNC80	-	NULL	ENSG00000144406		0.498	UNC80-201	KNOWN	basic|appris_principal|CCDS	protein_coding	UNC80	HGNC	protein_coding			0.00	48	0	T	NM_182587		210699700	+1			no_errors	ENST00000439458	ensembl	human	known	74_37	missense	28.21	28	11	SNP	1.000	G
USH2A	7399	genome.wustl.edu	37	1	216373055	216373055	+	Missense_Mutation	SNP	G	G	T			TCGA-R6-A6L4-01A-11D-A31U-09	TCGA-R6-A6L4-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	73e30098-463c-4d83-b6f7-dcc43fad6592	3fc2bd45-8cf9-420d-b900-a0fee703731d	g.chr1:216373055G>T	ENST00000307340.3	-	17	4111	c.3725C>A	c.(3724-3726)cCt>cAt	p.P1242H	USH2A_ENST00000366943.2_Missense_Mutation_p.P1242H|USH2A_ENST00000366942.3_Missense_Mutation_p.P1242H|RP5-1099E6.3_ENST00000420867.1_RNA	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	1242	Fibronectin type-III 2. {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)		TCTTTGGGGAGGGGCCTGGGC	0.478										HNSCC(13;0.011)																																							0													91.0	88.0	89.0					1																	216373055		2203	4300	6503	SO:0001583	missense	0			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.3725C>A	1.37:g.216373055G>T	ENSP00000305941:p.Pro1242His		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.P1242H	ENST00000307340.3	37	c.3725	CCDS31025.1	1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.983453	0.74474	.	.	ENSG00000042781	ENST00000307340;ENST00000366943;ENST00000366942	T;T;T	0.56275	0.52;0.47;0.47	5.87	3.97	0.46021	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.322096	0.22282	N	0.062116	T	0.74650	0.3744	M	0.88704	2.975	0.47407	D	0.999418	D;D	0.76494	0.999;0.994	D;P	0.68353	0.957;0.819	T	0.78927	-0.2011	10	0.72032	D	0.01	.	13.009	0.58722	0.0:0.1234:0.7481:0.1285	.	1242;1242	O75445-2;O75445	.;USH2A_HUMAN	H	1242	ENSP00000305941:P1242H;ENSP00000355910:P1242H;ENSP00000355909:P1242H	ENSP00000305941:P1242H	P	-	2	0	USH2A	214439678	1.000000	0.71417	0.342000	0.25602	0.928000	0.56348	3.835000	0.55805	0.896000	0.36366	0.655000	0.94253	CCT	USH2A	-	superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3	ENSG00000042781		0.478	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	USH2A	HGNC	protein_coding	OTTHUMT00000128138.1		0.00	58	0	G	NM_007123		216373055	-1			no_errors	ENST00000366943	ensembl	human	known	74_37	missense	15.79	48	9	SNP	0.985	T
USH2A	7399	genome.wustl.edu	37	1	216462627	216462627	+	Missense_Mutation	SNP	C	C	A	rs146824138		TCGA-R6-A6L4-01A-11D-A31U-09	TCGA-R6-A6L4-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	73e30098-463c-4d83-b6f7-dcc43fad6592	3fc2bd45-8cf9-420d-b900-a0fee703731d	g.chr1:216462627C>A	ENST00000307340.3	-	11	2352	c.1966G>T	c.(1966-1968)Gat>Tat	p.D656Y	USH2A_ENST00000366943.2_Missense_Mutation_p.D656Y|USH2A_ENST00000366942.3_Missense_Mutation_p.D656Y	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	656	Laminin EGF-like 3. {ECO:0000255|PROSITE- ProRule:PRU00460}.				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)		CTCACCTGATCACAAAGAATG	0.393										HNSCC(13;0.011)																																							0			GRCh37	CM071129	USH2A	M	rs146824138						133.0	120.0	124.0					1																	216462627		2203	4300	6503	SO:0001583	missense	0			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.1966G>T	1.37:g.216462627C>A	ENSP00000305941:p.Asp656Tyr		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.D656Y	ENST00000307340.3	37	c.1966	CCDS31025.1	1	.	.	.	.	.	.	.	.	.	.	C	15.24	2.774314	0.49786	.	.	ENSG00000042781	ENST00000307340;ENST00000366943;ENST00000366942	T;T;T	0.58797	0.31;0.31;0.31	5.12	4.19	0.49359	EGF-like, laminin (3);	0.000000	0.41097	U	0.000947	T	0.78923	0.4360	M	0.93763	3.455	0.44834	D	0.997841	D;D	0.61080	0.989;0.989	P;P	0.59643	0.861;0.832	D	0.84838	0.0806	10	0.66056	D	0.02	.	14.2674	0.66129	0.0:0.7166:0.2834:0.0	.	656;656	O75445-2;O75445	.;USH2A_HUMAN	Y	656	ENSP00000305941:D656Y;ENSP00000355910:D656Y;ENSP00000355909:D656Y	ENSP00000305941:D656Y	D	-	1	0	USH2A	214529250	1.000000	0.71417	0.953000	0.39169	0.361000	0.29550	2.591000	0.46163	1.242000	0.43836	0.460000	0.39030	GAT	USH2A	-	pfam_EGF_laminin,smart_EGF_laminin,pfscan_EGF_laminin	ENSG00000042781		0.393	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	USH2A	HGNC	protein_coding	OTTHUMT00000128138.1		0.00	67	0	C	NM_007123		216462627	-1			no_errors	ENST00000366943	ensembl	human	known	74_37	missense	22.22	21	6	SNP	1.000	A
USP9Y	8287	genome.wustl.edu	37	Y	14924810	14924810	+	Nonsense_Mutation	SNP	C	C	T			TCGA-R6-A6L4-01A-11D-A31U-09	TCGA-R6-A6L4-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	73e30098-463c-4d83-b6f7-dcc43fad6592	3fc2bd45-8cf9-420d-b900-a0fee703731d	g.chrY:14924810C>T	ENST00000338981.3	+	31	5377	c.4432C>T	c.(4432-4434)Cag>Tag	p.Q1478*	USP9Y_ENST00000426564.2_3'UTR	NM_004654.3	NP_004645.2	O00507	USP9Y_HUMAN	ubiquitin specific peptidase 9, Y-linked	1478					BMP signaling pathway (GO:0030509)|protein deubiquitination (GO:0016579)|spermatogenesis (GO:0007283)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)	co-SMAD binding (GO:0070410)|cysteine-type peptidase activity (GO:0008234)|ubiquitin-specific protease activity (GO:0004843)			kidney(1)|large_intestine(8)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						AGTTTACCTGCAGTATTTAAG	0.378																																																	0													78.0	69.0	71.0					Y																	14924810		609	1952	2561	SO:0001587	stop_gained	0			Y13618	CCDS14781.1	Yq11.2	2010-04-09	2009-03-17		ENSG00000114374	ENSG00000114374		"""Ubiquitin-specific peptidases"""	12633	protein-coding gene	gene with protein product	"""fat facets-like homolog (Drosophila)"""	400005	"""ubiquitin specific peptidase 9, Y-linked (fat facets-like, Drosophila)"""			8922996, 9384609, 19246359	Standard	NM_004654		Approved	DFFRY	uc004fst.1	O00507	OTTHUMG00000036469	ENST00000338981.3:c.4432C>T	Y.37:g.14924810C>T	ENSP00000342812:p.Gln1478*		O14601	Nonsense_Mutation	SNP	pfam_Peptidase_C19/C67,superfamily_ARM-type_fold,superfamily_Glycoside_hydrolase_SF,pfscan_Peptidase_C19/C67	p.Q1478*	ENST00000338981.3	37	c.4432	CCDS14781.1	Y																																																																																			USP9Y	-	NULL	ENSG00000114374		0.378	USP9Y-001	KNOWN	basic|appris_principal|CCDS	protein_coding	USP9Y	HGNC	protein_coding	OTTHUMT00000088703.2		0.00	27	0	C	NM_004654		14924810	+1			no_errors	ENST00000338981	ensembl	human	known	74_37	nonsense	64.71	6	11	SNP	1.000	T
WDR17	116966	genome.wustl.edu	37	4	177098797	177098797	+	Nonsense_Mutation	SNP	A	A	T			TCGA-R6-A6L4-01A-11D-A31U-09	TCGA-R6-A6L4-10A-01D-A31U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	73e30098-463c-4d83-b6f7-dcc43fad6592	3fc2bd45-8cf9-420d-b900-a0fee703731d	g.chr4:177098797A>T	ENST00000280190.4	+	30	3997	c.3841A>T	c.(3841-3843)Aaa>Taa	p.K1281*	WDR17_ENST00000507824.2_Nonsense_Mutation_p.K1256*|WDR17_ENST00000508596.1_Nonsense_Mutation_p.K1242*|WDR17_ENST00000393643.2_Nonsense_Mutation_p.K1257*			Q8IZU2	WDR17_HUMAN	WD repeat domain 17	1281										breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(18)|lung(46)|ovary(2)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(1)	92		Breast(14;0.00015)|Melanoma(52;0.00886)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;2.21e-20)|Epithelial(43;9.71e-18)|OV - Ovarian serous cystadenocarcinoma(60;2.38e-09)|GBM - Glioblastoma multiforme(59;0.000295)|STAD - Stomach adenocarcinoma(60;0.000703)|LUSC - Lung squamous cell carcinoma(193;0.0232)		TACGGGATTAAAAATCCAGGT	0.308																																																	0													54.0	56.0	55.0					4																	177098797		2203	4298	6501	SO:0001587	stop_gained	0			AF492460	CCDS3825.1, CCDS43284.1, CCDS43284.2	4q34	2013-01-09			ENSG00000150627	ENSG00000150627		"""WD repeat domain containing"""	16661	protein-coding gene	gene with protein product		609005				12401215	Standard	NM_170710		Approved		uc003iuj.3	Q8IZU2	OTTHUMG00000160791	ENST00000280190.4:c.3841A>T	4.37:g.177098797A>T	ENSP00000280190:p.Lys1281*		E7EQX0|Q0QD35	Nonsense_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.K1281*	ENST00000280190.4	37	c.3841	CCDS3825.1	4	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	42|42	9.566948|9.566948	0.99207|0.99207	.|.	.|.	ENSG00000150627|ENSG00000150627	ENST00000443118|ENST00000508596;ENST00000393643;ENST00000280190;ENST00000507824	.|.	.|.	.|.	5.96|5.96	4.72|4.72	0.59763|0.59763	.|.	0.053132|0.053132	0.64402|0.64402	D|D	0.000001|0.000001	T|.	0.33352|.	0.0860|.	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	T|.	0.17899|.	-1.0354|.	5|.	.|0.02654	.|T	.|1	-30.5397|-30.5397	11.8315|11.8315	0.52299|0.52299	0.7322:0.2678:0.0:0.0|0.7322:0.2678:0.0:0.0	.|.	.|.	.|.	.|.	I|X	515|1242;1257;1281;1257	.|.	.|ENSP00000280190:K1281X	K|K	+|+	2|1	0|0	WDR17|WDR17	177335791|177335791	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	3.853000|3.853000	0.55941|0.55941	2.284000|2.284000	0.76573|0.76573	0.528000|0.528000	0.53228|0.53228	AAA|AAA	WDR17	-	NULL	ENSG00000150627		0.308	WDR17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR17	HGNC	protein_coding	OTTHUMT00000362334.2		0.00	66	0	A			177098797	+1			no_errors	ENST00000280190	ensembl	human	known	74_37	nonsense	33.33	16	8	SNP	1.000	T
WDR46	9277	genome.wustl.edu	37	6	33255470	33255470	+	Missense_Mutation	SNP	C	C	A			TCGA-R6-A6L4-01A-11D-A31U-09	TCGA-R6-A6L4-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	73e30098-463c-4d83-b6f7-dcc43fad6592	3fc2bd45-8cf9-420d-b900-a0fee703731d	g.chr6:33255470C>A	ENST00000374617.4	-	7	1005	c.649G>T	c.(649-651)Ggt>Tgt	p.G217C	PFDN6_ENST00000374607.1_5'Flank|PFDN6_ENST00000463584.1_5'Flank|WDR46_ENST00000477718.1_5'UTR|PFDN6_ENST00000374606.5_5'Flank|PFDN6_ENST00000374610.2_5'Flank|PFDN6_ENST00000395131.1_5'Flank	NM_001164267.1|NM_005452.5	NP_001157739.1|NP_005443.3	O15213	WDR46_HUMAN	WD repeat domain 46	217							poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)	20						GCCACATGACCTCGGCGCCCT	0.597																																																	0													65.0	61.0	63.0					6																	33255470		2203	4300	6503	SO:0001583	missense	0			Z97184	CCDS4772.1	6p21.3	2013-01-09	2005-05-31	2005-05-31	ENSG00000227057	ENSG00000227057		"""WD repeat domain containing"""	13923	protein-coding gene	gene with protein product		611440	"""chromosome 6 open reading frame 11"""	C6orf11		9545376, 9521053	Standard	NM_005452		Approved	BING4, UTP7	uc003ods.3	O15213	OTTHUMG00000031192	ENST00000374617.4:c.649G>T	6.37:g.33255470C>A	ENSP00000363746:p.Gly217Cys		A6NDP5|Q5HYZ0|Q5STK5|Q5STR3	Missense_Mutation	SNP	pfam_BING4_C_dom,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.G217C	ENST00000374617.4	37	c.649	CCDS4772.1	6	.	.	.	.	.	.	.	.	.	.	C	24.0	4.477639	0.84640	.	.	ENSG00000227057	ENST00000374617;ENST00000444176	T;T	0.26518	4.35;1.73	4.56	4.56	0.56223	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.54581	0.1867	M	0.93594	3.435	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.67795	-0.5578	10	0.87932	D	0	-13.7893	14.8987	0.70661	0.0:1.0:0.0:0.0	.	163;217	B4DP15;O15213	.;WDR46_HUMAN	C	217;144	ENSP00000363746:G217C;ENSP00000405568:G144C	ENSP00000363746:G217C	G	-	1	0	WDR46	33363448	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	6.325000	0.72901	2.366000	0.80165	0.549000	0.68633	GGT	WDR46	-	superfamily_WD40_repeat_dom	ENSG00000227057		0.597	WDR46-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR46	HGNC	protein_coding	OTTHUMT00000076382.2		0.00	39	0	C	NM_005452		33255470	-1			no_errors	ENST00000374617	ensembl	human	known	74_37	missense	31.03	20	9	SNP	1.000	A
ZEB1	6935	genome.wustl.edu	37	10	31810100	31810100	+	Missense_Mutation	SNP	A	A	C			TCGA-R6-A6L4-01A-11D-A31U-09	TCGA-R6-A6L4-10A-01D-A31U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	73e30098-463c-4d83-b6f7-dcc43fad6592	3fc2bd45-8cf9-420d-b900-a0fee703731d	g.chr10:31810100A>C	ENST00000320985.10	+	7	1947	c.1837A>C	c.(1837-1839)Aaa>Caa	p.K613Q	ZEB1_ENST00000542815.3_Missense_Mutation_p.K546Q|ZEB1_ENST00000559858.1_3'UTR|ZEB1_ENST00000560721.2_Missense_Mutation_p.K593Q|ZEB1_ENST00000446923.2_Missense_Mutation_p.K597Q|ZEB1_ENST00000361642.5_Missense_Mutation_p.K614Q			P37275	ZEB1_HUMAN	zinc finger E-box binding homeobox 1	613					cartilage development (GO:0051216)|cell proliferation (GO:0008283)|cellular response to amino acid stimulus (GO:0071230)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cochlea morphogenesis (GO:0090103)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic skeletal system morphogenesis (GO:0048704)|forebrain development (GO:0030900)|immune response (GO:0006955)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial cell differentiation (GO:0030857)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|pattern specification process (GO:0007389)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of mesenchymal cell proliferation (GO:0010464)|regulation of smooth muscle cell differentiation (GO:0051150)|regulation of T cell differentiation in thymus (GO:0033081)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|response to activity (GO:0014823)|response to nutrient levels (GO:0031667)|semicircular canal morphogenesis (GO:0048752)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|E-box binding (GO:0070888)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(2)|breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(38)|ovary(3)|skin(6)|upper_aerodigestive_tract(4)	77		Prostate(175;0.0156)				AGAGCTCTCAAAAATTGCTGA	0.403																																					Ovarian(40;423 959 14296 36701 49589)												0													70.0	72.0	71.0					10																	31810100		2203	4299	6502	SO:0001583	missense	0			AK091478	CCDS7169.1, CCDS44370.1, CCDS53505.1, CCDS53506.1, CCDS53507.1	10p11.22	2014-02-14	2007-02-15	2007-02-15	ENSG00000148516	ENSG00000148516		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	11642	protein-coding gene	gene with protein product		189909	"""transcription factor 8 (represses interleukin 2 expression)"", ""posterior polymorphous corneal dystrophy 3"""	TCF8, PPCD3		1427828, 1840704, 15384081, 16252232	Standard	NM_001128128		Approved	BZP, ZEB, AREB6, NIL-2-A, Zfhep, Zfhx1a, FECD6	uc001ivu.4	P37275	OTTHUMG00000017907	ENST00000320985.10:c.1837A>C	10.37:g.31810100A>C	ENSP00000319248:p.Lys613Gln		B4DJV0|B4DUW9|E9PCM7|F5H4I8|Q12924|Q13800|Q2KJ05|Q5T968|Q5VZ84|Q8NB68	Missense_Mutation	SNP	pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Znf_C2H2-like,smart_Homeobox_dom,pfscan_Znf_C2H2	p.K614Q	ENST00000320985.10	37	c.1840	CCDS7169.1	10	.	.	.	.	.	.	.	.	.	.	A	17.63	3.437788	0.62955	.	.	ENSG00000148516	ENST00000542879;ENST00000537225;ENST00000361642;ENST00000546250;ENST00000542815;ENST00000320985;ENST00000437844;ENST00000541037;ENST00000543514;ENST00000446923	D;D;D;D;D	0.83163	-1.69;-1.69;-1.69;-1.69;-1.69	5.34	5.34	0.76211	Homeodomain-related (1);Homeobox (2);	0.177751	0.39475	N	0.001352	D	0.84234	0.5427	N	0.17278	0.47	0.80722	D	1	D;D;D;D;D;D;D;D	0.89917	0.972;1.0;1.0;1.0;1.0;0.988;1.0;1.0	D;D;D;D;D;D;D;D	0.91635	0.918;0.997;0.998;0.998;0.998;0.951;0.999;0.998	D	0.85677	0.1298	10	0.45353	T	0.12	-27.813	15.6271	0.76870	1.0:0.0:0.0:0.0	.	546;613;597;613;613;593;614;613	F5H4I8;F5H1R1;E9PCM7;B2RBI8;A0JLS9;Q5VZ84;Q2KJ05;P37275	.;.;.;.;.;.;.;ZEB1_HUMAN	Q	395;613;614;613;546;613;593;472;504;597	ENSP00000444282:K395Q;ENSP00000354487:K614Q;ENSP00000444891:K546Q;ENSP00000319248:K613Q;ENSP00000391612:K597Q	ENSP00000319248:K613Q	K	+	1	0	ZEB1	31850106	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.287000	0.95975	2.155000	0.67459	0.533000	0.62120	AAA	ZEB1	-	pfam_Homeobox_dom,superfamily_Homeodomain-like,smart_Homeobox_dom	ENSG00000148516		0.403	ZEB1-018	KNOWN	basic|appris_candidate|CCDS	protein_coding	ZEB1	HGNC	protein_coding	OTTHUMT00000419083.2		0.00	43	0	A	NM_030751		31810100	+1			no_errors	ENST00000361642	ensembl	human	known	74_37	missense	50.00	7	7	SNP	1.000	C
ZFHX3	463	genome.wustl.edu	37	16	72984417	72984417	+	Missense_Mutation	SNP	C	C	T			TCGA-R6-A6L4-01A-11D-A31U-09	TCGA-R6-A6L4-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	73e30098-463c-4d83-b6f7-dcc43fad6592	3fc2bd45-8cf9-420d-b900-a0fee703731d	g.chr16:72984417C>T	ENST00000268489.5	-	3	3839	c.3167G>A	c.(3166-3168)cGg>cAg	p.R1056Q	ZFHX3_ENST00000397992.5_Missense_Mutation_p.R142Q	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	1056					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)				CGTGTGCAGCCGCAGCTTCTC	0.587																																																	0													73.0	62.0	66.0					16																	72984417		2198	4300	6498	SO:0001583	missense	0			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.3167G>A	16.37:g.72984417C>T	ENSP00000268489:p.Arg1056Gln		D3DWS8|O15101|Q13719	Missense_Mutation	SNP	pfam_Homeobox_dom,superfamily_Homeodomain-like,superfamily_Adenylate_cyclase-assoc_CAP_N,smart_Znf_C2H2-like,smart_Znf_U1,smart_Homeobox_dom,pfscan_Homeobox_dom,pfscan_Znf_C2H2	p.R1056Q	ENST00000268489.5	37	c.3167	CCDS10908.1	16	.	.	.	.	.	.	.	.	.	.	C	24.0	4.485800	0.84854	.	.	ENSG00000140836	ENST00000268489;ENST00000397992	T;T	0.54279	0.58;0.58	5.31	5.31	0.75309	Zinc finger, C2H2-like (1);	0.000000	0.47093	D	0.000246	T	0.63200	0.2491	L	0.36672	1.1	0.80722	D	1	D	0.89917	1.0	D	0.77557	0.99	T	0.55915	-0.8065	10	0.18276	T	0.48	.	18.9874	0.92777	0.0:1.0:0.0:0.0	.	1056	Q15911	ZFHX3_HUMAN	Q	1056;142	ENSP00000268489:R1056Q;ENSP00000438926:R142Q	ENSP00000268489:R1056Q	R	-	2	0	ZFHX3	71541918	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.436000	0.80404	2.472000	0.83506	0.650000	0.86243	CGG	ZFHX3	-	smart_Znf_C2H2-like	ENSG00000140836		0.587	ZFHX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFHX3	HGNC	protein_coding	OTTHUMT00000269008.1		0.00	35	0	C	NM_006885		72984417	-1			no_errors	ENST00000268489	ensembl	human	known	74_37	missense	25.00	12	4	SNP	1.000	T
ZNF222	7673	genome.wustl.edu	37	19	44536823	44536823	+	Missense_Mutation	SNP	A	A	C			TCGA-R6-A6L4-01A-11D-A31U-09	TCGA-R6-A6L4-10A-01D-A31U-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	73e30098-463c-4d83-b6f7-dcc43fad6592	3fc2bd45-8cf9-420d-b900-a0fee703731d	g.chr19:44536823A>C	ENST00000187879.8	+	4	1158	c.996A>C	c.(994-996)caA>caC	p.Q332H	ZNF223_ENST00000591793.1_Intron|ZNF222_ENST00000391960.3_Missense_Mutation_p.Q372H	NM_013360.2	NP_037492.2	Q9UK12	ZN222_HUMAN	zinc finger protein 222	332					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)|large_intestine(7)|lung(6)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	20		Prostate(69;0.0435)				TGGTCCATCAACGAGTCCACA	0.428																																																	0													105.0	103.0	104.0					19																	44536823		2203	4300	6503	SO:0001583	missense	0			AF187988	CCDS33045.1, CCDS46098.1	19q13.2	2013-01-08				ENSG00000159885		"""Zinc fingers, C2H2-type"", ""-"""	13015	protein-coding gene	gene with protein product							Standard	NM_013360		Approved		uc002oye.3	Q9UK12		ENST00000187879.8:c.996A>C	19.37:g.44536823A>C	ENSP00000187879:p.Gln332His		G5E9B9|Q8N6G7|Q9P1U5	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.Q372H	ENST00000187879.8	37	c.1116	CCDS33045.1	19	.	.	.	.	.	.	.	.	.	.	A	13.99	2.401324	0.42613	.	.	ENSG00000159885	ENST00000391960;ENST00000187879;ENST00000251272	T;T	0.36520	1.25;1.25	2.79	1.68	0.24146	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.44519	0.1297	L	0.48174	1.505	0.23003	N	0.998443	P;D	0.52996	0.953;0.957	D;D	0.68483	0.948;0.958	T	0.21999	-1.0229	9	0.52906	T	0.07	.	2.6465	0.04985	0.2663:0.0:0.5054:0.2283	.	372;332	G5E9B9;Q9UK12	.;ZN222_HUMAN	H	372;332;278	ENSP00000375822:Q372H;ENSP00000187879:Q332H	ENSP00000187879:Q332H	Q	+	3	2	ZNF222	49228663	0.000000	0.05858	0.154000	0.22540	0.310000	0.27922	-0.709000	0.05030	0.482000	0.27582	-1.073000	0.02249	CAA	ZNF222	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000159885		0.428	ZNF222-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	ZNF222	HGNC	protein_coding	OTTHUMT00000460465.2		0.00	65	0	A			44536823	+1			no_errors	ENST00000391960	ensembl	human	known	74_37	missense	27.27	32	12	SNP	0.870	C
ZNF28	7576	genome.wustl.edu	37	19	53303226	53303226	+	Missense_Mutation	SNP	G	G	C			TCGA-R6-A6L4-01A-11D-A31U-09	TCGA-R6-A6L4-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	73e30098-463c-4d83-b6f7-dcc43fad6592	3fc2bd45-8cf9-420d-b900-a0fee703731d	g.chr19:53303226G>C	ENST00000457749.2	-	4	1991	c.1872C>G	c.(1870-1872)atC>atG	p.I624M	ZNF28_ENST00000360272.4_Missense_Mutation_p.I571M|ZNF28_ENST00000414252.2_Missense_Mutation_p.I571M|ZNF28_ENST00000438150.2_Missense_Mutation_p.I571M	NM_006969.3	NP_008900.3	P17035	ZNF28_HUMAN	zinc finger protein 28	624					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(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|liver(1)|lung(10)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	34				GBM - Glioblastoma multiforme(134;0.0386)|Lung(386;0.145)		GCCTACGATGGATTATAAGCG	0.438																																																	0													228.0	204.0	212.0					19																	53303226		2203	4300	6503	SO:0001583	missense	0			X52355	CCDS33093.1, CCDS33093.2	19q13.41	2013-01-08	2006-05-10		ENSG00000198538	ENSG00000198538		"""Zinc fingers, C2H2-type"", ""-"""	13073	protein-coding gene	gene with protein product			"""zinc finger protein 28 (KOX 24)"""				Standard	NR_036599		Approved	KOX24, DKFZp781D0275	uc002qad.3	P17035	OTTHUMG00000154564	ENST00000457749.2:c.1872C>G	19.37:g.53303226G>C	ENSP00000397693:p.Ile624Met		A8KAK9|B4E3G0|B9EIK7|Q5H9V1|Q5HYM9|Q6ZML9|Q6ZN56	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.I624M	ENST00000457749.2	37	c.1872	CCDS33093.2	19	.	.	.	.	.	.	.	.	.	.	-	2.356	-0.347685	0.05208	.	.	ENSG00000198538	ENST00000438150;ENST00000457749;ENST00000360272;ENST00000414252	T;T;T;T	0.18016	2.24;2.24;2.24;2.24	1.81	-3.62	0.04543	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.07458	0.0188	N	0.21142	0.635	0.09310	N	1	P	0.44309	0.832	B	0.36608	0.229	T	0.22556	-1.0213	9	0.33940	T	0.23	.	3.1024	0.06330	0.4053:0.0:0.1594:0.4353	.	624	P17035	ZNF28_HUMAN	M	571;624;571;571	ENSP00000412143:I571M;ENSP00000397693:I624M;ENSP00000353410:I571M;ENSP00000444965:I571M	ENSP00000353410:I571M	I	-	3	3	ZNF28	57995038	0.000000	0.05858	0.000000	0.03702	0.025000	0.11179	-4.967000	0.00165	-0.607000	0.05738	0.298000	0.19748	ATC	ZNF28	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000198538		0.438	ZNF28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF28	HGNC	protein_coding	OTTHUMT00000336038.2		0.00	97	0	G	NM_006969		53303226	-1			no_errors	ENST00000457749	ensembl	human	known	74_37	missense	26.56	47	17	SNP	0.016	C
ZNF397	84307	genome.wustl.edu	37	18	32825283	32825283	+	Missense_Mutation	SNP	G	G	A			TCGA-R6-A6L4-01A-11D-A31U-09	TCGA-R6-A6L4-10A-01D-A31U-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	73e30098-463c-4d83-b6f7-dcc43fad6592	3fc2bd45-8cf9-420d-b900-a0fee703731d	g.chr18:32825283G>A	ENST00000330501.7	+	4	767	c.614G>A	c.(613-615)gGa>gAa	p.G205E	ZNF397_ENST00000592264.1_Intron|ZNF397_ENST00000589420.1_3'UTR|ZNF397_ENST00000261333.6_Missense_Mutation_p.G205E|ZNF397_ENST00000355632.4_Intron	NM_001135178.2	NP_001128650.1	Q8NF99	ZN397_HUMAN	zinc finger protein 397	205					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)			breast(2)|endometrium(1)|large_intestine(3)|lung(5)|skin(1)	12						AAATCACAGGGACTCCCTCAG	0.398																																																	0													76.0	76.0	76.0					18																	32825283		2203	4300	6503	SO:0001583	missense	0			BC006172	CCDS32814.1, CCDS45852.1	18p12	2013-01-09	2003-07-22			ENSG00000186812		"""-"", ""Zinc fingers, C2H2-type"""	18818	protein-coding gene	gene with protein product		609601	"""zinc finger protein 47"""	ZNF47			Standard	NM_032347		Approved	ZSCAN15, MGC13250	uc010dmp.3	Q8NF99		ENST00000330501.7:c.614G>A	18.37:g.32825283G>A	ENSP00000331577:p.Gly205Glu		Q9BRM2	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.G205E	ENST00000330501.7	37	c.614	CCDS45852.1	18	.	.	.	.	.	.	.	.	.	.	G	2.826	-0.243813	0.05906	.	.	ENSG00000186812	ENST00000261333;ENST00000330501	T;T	0.05855	4.47;3.38	3.56	1.08	0.20341	.	0.507228	0.14803	N	0.297523	T	0.02929	0.0087	N	0.19112	0.55	0.21652	N	0.999606	B;B	0.20550	0.001;0.046	B;B	0.12837	0.001;0.008	T	0.46484	-0.9188	10	0.02654	T	1	.	4.9173	0.13853	0.1767:0.1958:0.6275:0.0	.	205;205	Q8NF99;Q8NF99-2	ZN397_HUMAN;.	E	205	ENSP00000261333:G205E;ENSP00000331577:G205E	ENSP00000261333:G205E	G	+	2	0	ZNF397	31079281	0.000000	0.05858	0.022000	0.16811	0.941000	0.58515	0.143000	0.16115	0.098000	0.17522	0.289000	0.19496	GGA	ZNF397	-	NULL	ENSG00000186812		0.398	ZNF397-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF397	HGNC	protein_coding	OTTHUMT00000442398.1		0.00	51	0	G	NM_032347		32825283	+1			no_errors	ENST00000330501	ensembl	human	known	74_37	missense	42.31	15	11	SNP	0.386	A
ZNFX1	57169	genome.wustl.edu	37	20	47871098	47871098	+	Missense_Mutation	SNP	C	C	T	rs370749596		TCGA-R6-A6L4-01A-11D-A31U-09	TCGA-R6-A6L4-10A-01D-A31U-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none			Illumina HiSeq	73e30098-463c-4d83-b6f7-dcc43fad6592	3fc2bd45-8cf9-420d-b900-a0fee703731d	g.chr20:47871098C>T	ENST00000396105.1	-	10	3139	c.2893G>A	c.(2893-2895)Gag>Aag	p.E965K	ZNFX1_ENST00000371754.4_Missense_Mutation_p.E965K|ZNFX1_ENST00000371752.1_Missense_Mutation_p.E965K	NM_021035.2	NP_066363.1	Q9P2E3	ZNFX1_HUMAN	zinc finger, NFX1-type containing 1	965							metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			cervix(2)|endometrium(8)|kidney(7)|large_intestine(15)|liver(1)|lung(17)|ovary(2)|prostate(4)|skin(3)|urinary_tract(1)	60			BRCA - Breast invasive adenocarcinoma(12;0.00173)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)			AGTCTCAGCTCGGCCATTCTT	0.517													C|||	1	0.000199681	0.0008	0.0	5008	,	,		19323	0.0		0.0	False		,,,				2504	0.0																0								C	LYS/GLU	0,4406		0,0,2203	196.0	169.0	178.0		2893	5.8	1.0	20		178	1,8599	1.2+/-3.3	0,1,4299	no	missense	ZNFX1	NM_021035.2	56	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging	965/1919	47871098	1,13005	2203	4300	6503	SO:0001583	missense	0			AK022641	CCDS13417.1	20q13.13	2014-02-12			ENSG00000124201	ENSG00000124201			29271	protein-coding gene	gene with protein product						10718198	Standard	NM_021035		Approved	KIAA1404, FLJ11277	uc002xui.3	Q9P2E3	OTTHUMG00000032696	ENST00000396105.1:c.2893G>A	20.37:g.47871098C>T	ENSP00000379412:p.Glu965Lys		Q9BQM7|Q9BQM8|Q9H8C1|Q9H9S2|Q9NUM1|Q9NWW1	Missense_Mutation	SNP	superfamily_P-loop_NTPase,superfamily_ARM-type_fold,smart_Znf_NFX1	p.E965K	ENST00000396105.1	37	c.2893	CCDS13417.1	20	.	.	.	.	.	.	.	.	.	.	C	35	5.467789	0.96257	0.0	1.16E-4	ENSG00000124201	ENST00000371754;ENST00000371752;ENST00000396105	T;D;D	0.82255	1.94;-1.59;-1.59	5.83	5.83	0.93111	.	0.044929	0.85682	D	0.000000	D	0.83585	0.5286	L	0.38692	1.165	0.58432	D	0.999994	D	0.58620	0.983	P	0.54460	0.753	T	0.79293	-0.1863	10	0.19147	T	0.46	-27.025	18.6856	0.91562	0.0:1.0:0.0:0.0	.	965	Q9P2E3	ZNFX1_HUMAN	K	965	ENSP00000360819:E965K;ENSP00000360817:E965K;ENSP00000379412:E965K	ENSP00000360817:E965K	E	-	1	0	ZNFX1	47304505	0.998000	0.40836	0.997000	0.53966	0.994000	0.84299	3.872000	0.56085	2.763000	0.94921	0.561000	0.74099	GAG	ZNFX1	-	superfamily_P-loop_NTPase	ENSG00000124201		0.517	ZNFX1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNFX1	HGNC	protein_coding	OTTHUMT00000079647.2		0.00	38	0	C	NM_021035		47871098	-1			no_errors	ENST00000371752	ensembl	human	known	74_37	missense	48.15	14	13	SNP	1.000	T
