#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_BAM_File	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_Mutation_Status	i_ORegAnno_bin	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_all_domains	i_amino_acid_change	i_annotation_transcript	i_build	i_c_position	i_ccds_id	i_chromosome_name	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_default_gene_name	i_deletion_substructures	i_domain	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_name	i_gene_name_source	i_gene_type	i_havana_transcript	i_reference	i_refseq_mrna_id	i_secondary_variant_classification	i_stop	i_strand	i_transcript_error	i_transcript_name	i_transcript_source	i_transcript_species	i_transcript_status	i_transcript_version	i_trv_type	i_type	i_ucsc_cons	i_variant
ADD3	120	genome.wustl.edu	37	10	111881894	111881894	+	Silent	SNP	A	A	G			TCGA-DR-A0ZL-01A-11D-A10S-08	TCGA-DR-A0ZL-10A-01D-A10S-08	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e88a707-20f2-4cee-a1f4-21dd68ea49b8	3dc49f42-9237-4a15-8ff4-f6ec60a70467	g.chr10:111881894A>G	ENST00000356080.4	+	9	1354	c.987A>G	c.(985-987)ggA>ggG	p.G329G	ADD3_ENST00000277900.8_Silent_p.G329G|ADD3_ENST00000360162.3_Silent_p.G329G	NM_016824.3	NP_058432.1	Q9UEY8	ADDG_HUMAN	adducin 3 (gamma)	329						cell cortex (GO:0005938)|cell-cell junction (GO:0005911)|condensed nuclear chromosome (GO:0000794)|cytoskeleton (GO:0005856)|membrane (GO:0016020)|plasma membrane (GO:0005886)	structural constituent of cytoskeleton (GO:0005200)	p.G329G(1)		central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(9)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	29		Breast(234;0.052)|Lung NSC(174;0.223)		Epithelial(162;4.15e-05)|all cancers(201;0.000587)|BRCA - Breast invasive adenocarcinoma(275;0.0742)		GTGCAGGTGGAGTAGACAATC	0.413																																																	1	Substitution - coding silent(1)	cervix(1)											134.0	129.0	131.0					10																	111881894		2203	4300	6503	SO:0001819	synonymous_variant	120			U37122	CCDS7561.1, CCDS7562.1	10q25.2	2005-11-08			ENSG00000148700	ENSG00000148700			245	protein-coding gene	gene with protein product		601568		ADDL		8893809	Standard	XM_005269529		Approved		uc001kyv.3	Q9UEY8	OTTHUMG00000019032	ENST00000356080.4:c.987A>G	10.37:g.111881894A>G		Somatic		WXS	Illumina HiSeq	Phase_IV	D3DRA8|O43243|Q5VU09|Q92773|Q9UEY7	Silent	SNP	pfam_Aldolase_II/adducin_N,superfamily_Aldolase_II/adducin_N	p.G329	ENST00000356080.4	37	c.987	CCDS7561.1	10																																																																																			ADD3	-	superfamily_Aldolase_II/adducin_N		0.413	ADD3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ADD3	HGNC	protein_coding	OTTHUMT00000050289.1	A	NM_019903		111881894	+1	no_errors	ENST00000356080	ensembl	human	known	70_37	silent	SNP	0.982	G
APOBEC3D	140564	genome.wustl.edu	37	22	39417539	39417539	+	Silent	SNP	C	C	A			TCGA-DR-A0ZL-01A-11D-A10S-08	TCGA-DR-A0ZL-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e88a707-20f2-4cee-a1f4-21dd68ea49b8	3dc49f42-9237-4a15-8ff4-f6ec60a70467	g.chr22:39417539C>A	ENST00000216099.8	+	1	422	c.15C>A	c.(13-15)atC>atA	p.I5I	APOBEC3D_ENST00000427494.2_Silent_p.I5I|APOBEC3D_ENST00000381568.4_Intron	NM_152426.3	NP_689639.2	Q96AK3	ABC3D_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3D	5					defense response to virus (GO:0051607)|DNA cytosine deamination (GO:0070383)|innate immune response (GO:0045087)|negative regulation of single stranded viral RNA replication via double stranded DNA intermediate (GO:0045869)|negative regulation of transposition (GO:0010529)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amidines (GO:0016814)|zinc ion binding (GO:0008270)	p.I5I(1)		breast(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(3)|prostate(2)	11	Melanoma(58;0.04)					ATCCACAGATCAGGTACCGCT	0.607																																																	1	Substitution - coding silent(1)	cervix(1)											136.0	125.0	129.0					22																	39417539		2203	4300	6503	SO:0001819	synonymous_variant	140564			BF832090	CCDS46709.1	22q13.1	2012-10-19	2008-05-01		ENSG00000243811	ENSG00000243811		"""Apolipoprotein B mRNA editing enzymes"""	17354	protein-coding gene	gene with protein product		609900	"""apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3D (putative)"", ""apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3E pseudogene"""	APOBEC3E		11863358	Standard	NM_152426		Approved	ARP6, APOBEC3DE	uc003awt.4	Q96AK3	OTTHUMG00000151084	ENST00000216099.8:c.15C>A	22.37:g.39417539C>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q5JZ91|Q7Z2N2|Q7Z2N5|Q7Z2N6	Silent	SNP	pfam_APOBEC_N,pfam_APOBEC_C,superfamily_Cytidine_deaminase-like	p.I5	ENST00000216099.8	37	c.15	CCDS46709.1	22																																																																																			APOBEC3D	-	NULL		0.607	APOBEC3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	APOBEC3D	HGNC	protein_coding	OTTHUMT00000321232.2	C	NM_152426		39417539	+1	no_errors	ENST00000216099	ensembl	human	known	70_37	silent	SNP	0.019	A
ARMC3	219681	genome.wustl.edu	37	10	23287294	23287294	+	Missense_Mutation	SNP	G	G	A	rs375026207		TCGA-DR-A0ZL-01A-11D-A10S-08	TCGA-DR-A0ZL-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e88a707-20f2-4cee-a1f4-21dd68ea49b8	3dc49f42-9237-4a15-8ff4-f6ec60a70467	g.chr10:23287294G>A	ENST00000298032.5	+	11	1477	c.1393G>A	c.(1393-1395)Gca>Aca	p.A465T	ARMC3_ENST00000376528.4_Missense_Mutation_p.A202T|ARMC3_ENST00000409049.3_Missense_Mutation_p.A465T|RNA5SP304_ENST00000411199.1_RNA|ARMC3_ENST00000409983.3_Missense_Mutation_p.A465T	NM_173081.3	NP_775104.2	Q5W041	ARMC3_HUMAN	armadillo repeat containing 3	465						extracellular vesicular exosome (GO:0070062)		p.A465T(1)		breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(24)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						CGCTGTCACCGCAACTGCGTG	0.483																																																	1	Substitution - Missense(1)	cervix(1)						G	THR/ALA	0,4406		0,0,2203	59.0	56.0	57.0		1393	3.6	0.0	10		57	1,8599	1.2+/-3.3	0,1,4299	no	missense	ARMC3	NM_173081.3	58	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	465/873	23287294	1,13005	2203	4300	6503	SO:0001583	missense	219681			AK057389	CCDS7142.1, CCDS60499.1, CCDS60500.1, CCDS73073.1	10p12.31	2013-02-14			ENSG00000165309	ENSG00000165309		"""Armadillo repeat containing"""	30964	protein-coding gene	gene with protein product	"""cancer/testis antigen 81"""	611226					Standard	XM_005252380		Approved	FLJ32827, CT81	uc001irm.4	Q5W041	OTTHUMG00000017811	ENST00000298032.5:c.1393G>A	10.37:g.23287294G>A	ENSP00000298032:p.Ala465Thr	Somatic		WXS	Illumina HiSeq	Phase_IV	A0PG76|A6NH64|B4DZL3|B7ZBN6|B7ZBN7|Q8IXS5|Q8N7B0|Q96M49	Missense_Mutation	SNP	pfam_Armadillo,pfam_HEAT,superfamily_ARM-type_fold,smart_Armadillo,pfscan_Armadillo	p.A465T	ENST00000298032.5	37	c.1393	CCDS7142.1	10	.	.	.	.	.	.	.	.	.	.	G	11.46	1.644439	0.29246	0.0	1.16E-4	ENSG00000165309	ENST00000298032;ENST00000409983;ENST00000376523;ENST00000409049;ENST00000376528	T;T;T;T	0.65364	-0.15;-0.15;1.44;0.83	5.44	3.59	0.41128	Armadillo-like helical (1);Armadillo-type fold (1);	0.361605	0.31370	N	0.007766	T	0.48909	0.1526	L	0.42686	1.345	0.38839	D	0.956023	B;B	0.23990	0.028;0.095	B;B	0.19946	0.012;0.027	T	0.38520	-0.9657	10	0.23302	T	0.38	-14.578	8.3328	0.32197	0.0711:0.0:0.6517:0.2772	.	465;465	Q5W041-4;Q5W041	.;ARMC3_HUMAN	T	465;465;401;465;202	ENSP00000298032:A465T;ENSP00000386943:A465T;ENSP00000387288:A465T;ENSP00000365711:A202T	ENSP00000298032:A465T	A	+	1	0	ARMC3	23327300	0.693000	0.27728	0.015000	0.15790	0.014000	0.08584	1.555000	0.36277	0.669000	0.31146	-0.470000	0.05040	GCA	ARMC3	-	superfamily_ARM-type_fold		0.483	ARMC3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ARMC3	HGNC	protein_coding	OTTHUMT00000047197.2	G	NM_173081		23287294	+1	no_errors	ENST00000298032	ensembl	human	known	70_37	missense	SNP	0.783	A
ARHGAP21	57584	genome.wustl.edu	37	10	24874007	24874007	+	Missense_Mutation	SNP	C	C	G			TCGA-DR-A0ZL-01A-11D-A10S-08	TCGA-DR-A0ZL-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e88a707-20f2-4cee-a1f4-21dd68ea49b8	3dc49f42-9237-4a15-8ff4-f6ec60a70467	g.chr10:24874007C>G	ENST00000396432.2	-	26	5697	c.5211G>C	c.(5209-5211)atG>atC	p.M1737I		NM_020824.3	NP_065875.3	Q5T5U3	RHG21_HUMAN	Rho GTPase activating protein 21	1736	Interaction with CTNNA1.				establishment of Golgi localization (GO:0051683)|Golgi organization (GO:0007030)|maintenance of Golgi location (GO:0051684)|organelle transport along microtubule (GO:0072384)|signal transduction (GO:0007165)	cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	GTPase activator activity (GO:0005096)	p.M1736I(1)		NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(17)|lung(21)|ovary(7)|pancreas(1)|prostate(5)|skin(2)|stomach(2)|urinary_tract(1)	78						TTCCTTTTTTCATAACATCAA	0.408																																																	1	Substitution - Missense(1)	cervix(1)											94.0	97.0	96.0					10																	24874007		2202	4299	6501	SO:0001583	missense	57584			AF480466	CCDS7144.2	10p12.31	2013-01-10			ENSG00000107863	ENSG00000107863		"""Rho GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"""	23725	protein-coding gene	gene with protein product		609870				12056806	Standard	NM_020824		Approved	KIAA1424, ARHGAP10	uc001isb.2	Q5T5U3	OTTHUMG00000017825	ENST00000396432.2:c.5211G>C	10.37:g.24874007C>G	ENSP00000379709:p.Met1737Ile	Somatic		WXS	Illumina HiSeq	Phase_IV	Q0VF98|Q7Z3P7|Q8N3A2|Q8NI19|Q8TBV5|Q9P2C3	Missense_Mutation	SNP	pfam_RhoGAP_dom,pfam_Pleckstrin_homology,pfam_PDZ,superfamily_Rho_GTPase_activation_prot,superfamily_PDZ,smart_PDZ,smart_Pleckstrin_homology,smart_RhoGAP_dom,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_RhoGAP_dom	p.M1737I	ENST00000396432.2	37	c.5211	CCDS7144.2	10	.	.	.	.	.	.	.	.	.	.	C	10.93	1.489991	0.26686	.	.	ENSG00000107863	ENST00000396432;ENST00000447364	T	0.10288	2.89	4.77	4.77	0.60923	.	0.211103	0.56097	D	0.000033	T	0.13157	0.0319	L	0.54323	1.7	0.80722	D	1	B	0.27229	0.172	B	0.18871	0.023	T	0.05750	-1.0866	10	0.29301	T	0.29	.	18.1524	0.89678	0.0:1.0:0.0:0.0	.	1736	Q5T5U3	RHG21_HUMAN	I	1737;1186	ENSP00000379709:M1737I	ENSP00000379709:M1737I	M	-	3	0	ARHGAP21	24914013	1.000000	0.71417	0.969000	0.41365	0.627000	0.37826	3.658000	0.54482	2.332000	0.79248	0.591000	0.81541	ATG	ARHGAP21	-	NULL		0.408	ARHGAP21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGAP21	HGNC	protein_coding	OTTHUMT00000047229.4	C	NM_020824		24874007	-1	no_errors	ENST00000396432	ensembl	human	known	70_37	missense	SNP	1.000	G
ASAP2	8853	genome.wustl.edu	37	2	9528642	9528643	+	Frame_Shift_Ins	INS	-	-	C	rs376816649		TCGA-DR-A0ZL-01A-11D-A10S-08	TCGA-DR-A0ZL-10A-01D-A10S-08	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e88a707-20f2-4cee-a1f4-21dd68ea49b8	3dc49f42-9237-4a15-8ff4-f6ec60a70467	g.chr2:9528642_9528643insC	ENST00000281419.3	+	22	2690_2691	c.2350_2351insC	c.(2350-2352)gccfs	p.A784fs	ASAP2_ENST00000491413.1_3'UTR|ASAP2_ENST00000315273.4_Frame_Shift_Ins_p.A784fs	NM_003887.2	NP_003878.1	O43150	ASAP2_HUMAN	ArfGAP with SH3 domain, ankyrin repeat and PH domain 2	784	Pro-rich.				positive regulation of catalytic activity (GO:0043085)|regulation of ARF GTPase activity (GO:0032312)	Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	ARF GTPase activator activity (GO:0008060)|enzyme activator activity (GO:0008047)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(6)|lung(15)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	36						CACCACCAGCGCCCCCCCGCTT	0.579																																																	0									,	9,4257		0,9,2124					,	5.6	1.0			28	12,8240		0,12,4114	no	frameshift,frameshift	ASAP2	NM_003887.2,NM_001135191.1	,	0,21,6238	A1A1,A1R,RR		0.1454,0.211,0.1678	,	,		21,12497				SO:0001589	frameshift_variant	8853			AB007860	CCDS1661.1, CCDS46224.1	2p24	2013-01-10	2008-09-22	2008-09-22	ENSG00000151693	ENSG00000151693		"""ADP-ribosylation factor GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"", ""Ankyrin repeat domain containing"""	2721	protein-coding gene	gene with protein product	"""centaurin, beta 3"""	603817	"""development and differentiation enhancing factor 2"""	DDEF2		10022920, 9455477	Standard	NM_003887		Approved	KIAA0400, PAP, SHAG1, CENTB3	uc002qzh.2	O43150	OTTHUMG00000117485	ENST00000281419.3:c.2357dupC	2.37:g.9528649_9528649dupC	ENSP00000281419:p.Ala784fs	Somatic		WXS	Illumina HiSeq	Phase_IV	D6W4Y8	Frame_Shift_Ins	INS	pfam_ArfGAP,pfam_Pleckstrin_homology,pfam_Ankyrin_rpt,pfam_SH3_domain,pfam_SH3_2,superfamily_Ankyrin_rpt-contain_dom,superfamily_SH3_domain,smart_Pleckstrin_homology,smart_ArfGAP,smart_Ankyrin_rpt,smart_SH3_domain,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_ArfGAP,prints_ArfGAP	p.L787fs	ENST00000281419.3	37	c.2350_2351	CCDS1661.1	2																																																																																			ASAP2	-	NULL		0.579	ASAP2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	ASAP2	HGNC	protein_coding	OTTHUMT00000237522.1	-	NM_003887		9528643	+1	no_errors	ENST00000281419	ensembl	human	known	70_37	frame_shift_ins	INS	1.000:1.000	C
ASTN1	460	genome.wustl.edu	37	1	176863936	176863936	+	Missense_Mutation	SNP	C	C	T			TCGA-DR-A0ZL-01A-11D-A10S-08	TCGA-DR-A0ZL-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e88a707-20f2-4cee-a1f4-21dd68ea49b8	3dc49f42-9237-4a15-8ff4-f6ec60a70467	g.chr1:176863936C>T	ENST00000367654.3	-	17	2937	c.2726G>A	c.(2725-2727)cGg>cAg	p.R909Q	ASTN1_ENST00000361833.2_Missense_Mutation_p.R901Q|ASTN1_ENST00000424564.2_Missense_Mutation_p.R901Q|ASTN1_ENST00000367657.3_Missense_Mutation_p.R901Q	NM_004319.1	NP_004310.1	O14525	ASTN1_HUMAN	astrotactin 1	909					locomotory behavior (GO:0007626)|neuron cell-cell adhesion (GO:0007158)|neuron migration (GO:0001764)	endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)		p.R901Q(1)		NS(4)|breast(5)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(23)|liver(1)|lung(81)|ovary(6)|prostate(5)|skin(10)|urinary_tract(3)	153						GTCTCTTTCCCGCTCCTCAGA	0.532																																																	1	Substitution - Missense(1)	cervix(1)											110.0	111.0	110.0					1																	176863936		2203	4300	6503	SO:0001583	missense	460			AB006627	CCDS1319.1, CCDS44280.1, CCDS65732.1	1q25.2	2008-02-05	2006-08-24	2006-08-24	ENSG00000152092	ENSG00000152092			773	protein-coding gene	gene with protein product		600904	"""astrotactin"""	ASTN		9070947	Standard	NM_001286164		Approved		uc001glc.3	O14525	OTTHUMG00000035041	ENST00000367654.3:c.2726G>A	1.37:g.176863936C>T	ENSP00000356626:p.Arg909Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	A5PL12|B4DHI9|E9PFR8|O60799|Q5W0V7|Q5W0V8	Missense_Mutation	SNP	superfamily_Fibronectin_type3,smart_EG-like_dom,smart_MACPF,pfscan_Fibronectin_type3	p.R909Q	ENST00000367654.3	37	c.2726		1	.	.	.	.	.	.	.	.	.	.	C	17.62	3.435796	0.62955	.	.	ENSG00000152092	ENST00000367657;ENST00000361833;ENST00000367654;ENST00000424564;ENST00000541808	T;T;T;T	0.14391	2.51;2.92;2.92;2.51	5.26	5.26	0.73747	.	0.000000	0.85682	D	0.000000	T	0.30198	0.0757	L	0.40543	1.245	0.80722	D	1	D;D	0.69078	0.997;0.997	D;D	0.69479	0.964;0.964	T	0.00920	-1.1514	10	0.59425	D	0.04	-27.2066	18.8334	0.92150	0.0:1.0:0.0:0.0	.	901;901	O14525-2;B1AJS1	.;.	Q	901;901;909;901;901	ENSP00000356629:R901Q;ENSP00000354536:R901Q;ENSP00000356626:R909Q;ENSP00000395041:R901Q	ENSP00000354536:R901Q	R	-	2	0	ASTN1	175130559	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.355000	0.66046	2.640000	0.89533	0.655000	0.94253	CGG	ASTN1	-	smart_MACPF		0.532	ASTN1-201	KNOWN	basic	protein_coding	ASTN1	HGNC	protein_coding		C	NM_004319		176863936	-1	no_errors	ENST00000367654	ensembl	human	known	70_37	missense	SNP	1.000	T
ATF7IP	55729	genome.wustl.edu	37	12	14577421	14577421	+	Missense_Mutation	SNP	C	C	G			TCGA-DR-A0ZL-01A-11D-A10S-08	TCGA-DR-A0ZL-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e88a707-20f2-4cee-a1f4-21dd68ea49b8	3dc49f42-9237-4a15-8ff4-f6ec60a70467	g.chr12:14577421C>G	ENST00000540793.1	+	1	727	c.572C>G	c.(571-573)tCt>tGt	p.S191C	ATF7IP_ENST00000543189.1_Missense_Mutation_p.S191C|ATF7IP_ENST00000541654.1_3'UTR|ATF7IP_ENST00000536444.1_Missense_Mutation_p.S191C|ATF7IP_ENST00000544627.1_Missense_Mutation_p.S199C|ATF7IP_ENST00000261168.4_Missense_Mutation_p.S191C			Q6VMQ6	MCAF1_HUMAN	activating transcription factor 7 interacting protein	191					DNA methylation (GO:0006306)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of RNA polymerase II transcriptional preinitiation complex assembly (GO:0045898)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	nucleus (GO:0005634)		p.S191C(1)		cervix(1)|endometrium(7)|kidney(5)|large_intestine(10)|liver(2)|lung(22)|ovary(1)|prostate(4)|skin(1)|urinary_tract(1)	54						GATGCCACCTCTGGTGATGCC	0.562																																																	1	Substitution - Missense(1)	cervix(1)											159.0	120.0	133.0					12																	14577421		2203	4300	6503	SO:0001583	missense	55729			AJ242978	CCDS8663.1, CCDS66326.1, CCDS66327.1, CCDS73449.1	12p13.1	2005-11-18				ENSG00000171681			20092	protein-coding gene	gene with protein product		613644				10976766, 10777215	Standard	XM_005253424		Approved	FLJ10688, p621	uc001rbw.3	Q6VMQ6		ENST00000540793.1:c.572C>G	12.37:g.14577421C>G	ENSP00000444589:p.Ser191Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	F5GX74|G3V1U0|Q4G0T9|Q6P3T3|Q86XW5|Q9NVJ9|Q9NWC2|Q9Y4X8	Missense_Mutation	SNP	superfamily_Fibronectin_type3,pfscan_Fibronectin_type3	p.S191C	ENST00000540793.1	37	c.572	CCDS8663.1	12	.	.	.	.	.	.	.	.	.	.	C	29.5	5.011459	0.93346	.	.	ENSG00000171681	ENST00000261168;ENST00000543189;ENST00000536444;ENST00000544627;ENST00000396279;ENST00000540793	T;T;T;T;T;T	0.25912	2.09;2.1;2.09;2.08;1.77;2.09	4.88	3.91	0.45181	.	0.140137	0.33650	N	0.004692	T	0.28995	0.0720	L	0.54323	1.7	0.28893	N	0.893755	P;P;P;P;P	0.36587	0.559;0.559;0.54;0.54;0.559	B;B;B;B;B	0.40444	0.329;0.329;0.247;0.247;0.264	T	0.27468	-1.0073	10	0.87932	D	0	-8.5725	12.8064	0.57616	0.0:0.8337:0.1663:0.0	.	199;191;191;191;191	B4E2A2;B4DRL6;G3V1U0;Q6VMQ6;Q6VMQ6-2	.;.;.;MCAF1_HUMAN;.	C	191;191;191;199;191;191	ENSP00000261168:S191C;ENSP00000443179:S191C;ENSP00000445955:S191C;ENSP00000440440:S199C;ENSP00000379575:S191C;ENSP00000444589:S191C	ENSP00000261168:S191C	S	+	2	0	ATF7IP	14468688	0.273000	0.24181	0.185000	0.23176	0.719000	0.41307	3.247000	0.51422	2.620000	0.88729	0.655000	0.94253	TCT	ATF7IP	-	NULL		0.562	ATF7IP-024	KNOWN	basic|appris_candidate|CCDS	protein_coding	ATF7IP	HGNC	protein_coding	OTTHUMT00000401400.1	C	NM_018179		14577421	+1	no_errors	ENST00000261168	ensembl	human	known	70_37	missense	SNP	0.722	G
BAI1	575	genome.wustl.edu	37	8	143614744	143614744	+	Missense_Mutation	SNP	G	G	A			TCGA-DR-A0ZL-01A-11D-A10S-08	TCGA-DR-A0ZL-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e88a707-20f2-4cee-a1f4-21dd68ea49b8	3dc49f42-9237-4a15-8ff4-f6ec60a70467	g.chr8:143614744G>A	ENST00000517894.1	+	25	4381	c.3487G>A	c.(3487-3489)Gcc>Acc	p.A1163T	BAI1_ENST00000323289.5_Missense_Mutation_p.A1163T			O14514	BAI1_HUMAN	brain-specific angiogenesis inhibitor 1	1163					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell proliferation (GO:0008285)|neuropeptide signaling pathway (GO:0007218)|peripheral nervous system development (GO:0007422)|signal transduction (GO:0007165)	cell-cell junction (GO:0005911)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.A1163T(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(2)|lung(28)|ovary(4)|pancreas(1)|prostate(7)	57	all_cancers(97;2.84e-12)|all_epithelial(106;5.91e-09)|Lung NSC(106;0.000322)|all_lung(105;0.000616)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0315)|Acute lymphoblastic leukemia(118;0.155)					CCGCCGCTCCGCCCTCTTCCA	0.657																																																	1	Substitution - Missense(1)	cervix(1)											25.0	34.0	31.0					8																	143614744		2198	4295	6493	SO:0001583	missense	575			AB005297	CCDS64985.1	8q24.3	2014-08-08			ENSG00000181790	ENSG00000181790		"""-"", ""GPCR / Class B : Orphans"""	943	protein-coding gene	gene with protein product		602682				9533023	Standard	NM_001702		Approved		uc003ywm.3	O14514	OTTHUMG00000164732	ENST00000517894.1:c.3487G>A	8.37:g.143614744G>A	ENSP00000430945:p.Ala1163Thr	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_GPCR_2_secretin-like,pfam_Thrombospondin_1_rpt,pfam_DUF3497,pfam_GPS_dom,superfamily_Thrombospondin_1_rpt,smart_Thrombospondin_1_rpt,smart_GPCR_2_extracellular_dom,smart_GPS_dom,prints_GPCR_2_brain-spec_angio_inhib,prints_GPCR_2_secretin-like,pfscan_GPS_dom,pfscan_Thrombospondin_1_rpt,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like	p.A1163T	ENST00000517894.1	37	c.3487		8	.	.	.	.	.	.	.	.	.	.	G	21.6	4.174972	0.78564	.	.	ENSG00000181790	ENST00000517894;ENST00000323289	T;T	0.44083	0.93;0.93	4.56	4.56	0.56223	.	0.071448	0.56097	U	0.000040	T	0.39009	0.1062	N	0.25245	0.725	0.50171	D	0.999853	D	0.54047	0.964	P	0.48704	0.587	T	0.30327	-0.9982	10	0.45353	T	0.12	.	16.6935	0.85328	0.0:0.0:1.0:0.0	.	1163	E9PBK0	.	T	1163	ENSP00000430945:A1163T;ENSP00000313046:A1163T	ENSP00000313046:A1163T	A	+	1	0	BAI1	143611746	0.915000	0.31059	1.000000	0.80357	0.998000	0.95712	2.974000	0.49272	2.236000	0.73375	0.655000	0.94253	GCC	BAI1	-	pfam_GPCR_2_secretin-like,prints_GPCR_2_brain-spec_angio_inhib,pfscan_GPCR_2-like		0.657	BAI1-001	KNOWN	non_canonical_conserved|not_organism_supported|basic|appris_principal	protein_coding	BAI1	HGNC	protein_coding	OTTHUMT00000379963.3	G	NM_001702		143614744	+1	no_errors	ENST00000323289	ensembl	human	known	70_37	missense	SNP	1.000	A
CCT6A	908	genome.wustl.edu	37	7	56122148	56122148	+	Silent	SNP	C	C	G	rs562387995		TCGA-DR-A0ZL-01A-11D-A10S-08	TCGA-DR-A0ZL-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e88a707-20f2-4cee-a1f4-21dd68ea49b8	3dc49f42-9237-4a15-8ff4-f6ec60a70467	g.chr7:56122148C>G	ENST00000275603.4	+	3	507	c.288C>G	c.(286-288)gtC>gtG	p.V96V	CCT6A_ENST00000540286.1_Silent_p.V65V|PSPH_ENST00000395471.3_5'Flank|PSPH_ENST00000275605.3_5'Flank|CCT6A_ENST00000335503.3_Intron|SNORA22_ENST00000383876.1_RNA	NM_001762.3	NP_001753.1	P40227	TCPZ_HUMAN	chaperonin containing TCP1, subunit 6A (zeta 1)	96					'de novo' posttranslational protein folding (GO:0051084)|binding of sperm to zona pellucida (GO:0007339)|cellular protein metabolic process (GO:0044267)|protein folding (GO:0006457)	acrosomal vesicle (GO:0001669)|cell body (GO:0044297)|chaperonin-containing T-complex (GO:0005832)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|zona pellucida receptor complex (GO:0002199)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|unfolded protein binding (GO:0051082)	p.V96V(1)		breast(1)|cervix(2)|endometrium(1)|large_intestine(4)|lung(5)|stomach(1)|upper_aerodigestive_tract(1)	15	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			CTTCTAATGTCCTAATCATTG	0.388																																																	1	Substitution - coding silent(1)	cervix(1)											114.0	111.0	112.0					7																	56122148		2203	4300	6503	SO:0001819	synonymous_variant	908			M94083	CCDS5523.1, CCDS34640.1	7p11.2	2011-09-02			ENSG00000146731	ENSG00000146731		"""Heat Shock Proteins / Chaperonins"""	1620	protein-coding gene	gene with protein product		104613		CCT6		1352881, 8034610	Standard	NM_001762		Approved	TTCP20, TCPZ, Cctz, HTR3, TCP20	uc003trl.1	P40227	OTTHUMG00000022842	ENST00000275603.4:c.288C>G	7.37:g.56122148C>G		Somatic		WXS	Illumina HiSeq	Phase_IV	A6NCD2|Q3KP28|Q75LP4|Q96S46	Silent	SNP	pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,prints_Chaperone_TCP-1,prints_Chaprnin_Cpn60,tigrfam_Chap_CCT_zeta	p.V96	ENST00000275603.4	37	c.288	CCDS5523.1	7																																																																																			CCT6A	-	pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,prints_Chaperone_TCP-1,prints_Chaprnin_Cpn60,tigrfam_Chap_CCT_zeta		0.388	CCT6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCT6A	HGNC	protein_coding	OTTHUMT00000251526.2	C	NM_001762		56122148	+1	no_errors	ENST00000275603	ensembl	human	known	70_37	silent	SNP	1.000	G
CCT6A	908	genome.wustl.edu	37	7	56122192	56122192	+	Missense_Mutation	SNP	C	C	G			TCGA-DR-A0ZL-01A-11D-A10S-08	TCGA-DR-A0ZL-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e88a707-20f2-4cee-a1f4-21dd68ea49b8	3dc49f42-9237-4a15-8ff4-f6ec60a70467	g.chr7:56122192C>G	ENST00000275603.4	+	3	551	c.332C>G	c.(331-333)tCt>tGt	p.S111C	CCT6A_ENST00000540286.1_Missense_Mutation_p.S80C|PSPH_ENST00000395471.3_5'Flank|PSPH_ENST00000275605.3_5'Flank|CCT6A_ENST00000335503.3_Intron|SNORA22_ENST00000383876.1_RNA	NM_001762.3	NP_001753.1	P40227	TCPZ_HUMAN	chaperonin containing TCP1, subunit 6A (zeta 1)	111					'de novo' posttranslational protein folding (GO:0051084)|binding of sperm to zona pellucida (GO:0007339)|cellular protein metabolic process (GO:0044267)|protein folding (GO:0006457)	acrosomal vesicle (GO:0001669)|cell body (GO:0044297)|chaperonin-containing T-complex (GO:0005832)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|zona pellucida receptor complex (GO:0002199)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|unfolded protein binding (GO:0051082)	p.S111C(1)		breast(1)|cervix(2)|endometrium(1)|large_intestine(4)|lung(5)|stomach(1)|upper_aerodigestive_tract(1)	15	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			CTCTACATTTCTGAAGTATGC	0.378																																																	1	Substitution - Missense(1)	cervix(1)											87.0	83.0	85.0					7																	56122192		2203	4300	6503	SO:0001583	missense	908			M94083	CCDS5523.1, CCDS34640.1	7p11.2	2011-09-02			ENSG00000146731	ENSG00000146731		"""Heat Shock Proteins / Chaperonins"""	1620	protein-coding gene	gene with protein product		104613		CCT6		1352881, 8034610	Standard	NM_001762		Approved	TTCP20, TCPZ, Cctz, HTR3, TCP20	uc003trl.1	P40227	OTTHUMG00000022842	ENST00000275603.4:c.332C>G	7.37:g.56122192C>G	ENSP00000275603:p.Ser111Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NCD2|Q3KP28|Q75LP4|Q96S46	Missense_Mutation	SNP	pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,prints_Chaperone_TCP-1,prints_Chaprnin_Cpn60,tigrfam_Chap_CCT_zeta	p.S111C	ENST00000275603.4	37	c.332	CCDS5523.1	7	.	.	.	.	.	.	.	.	.	.	C	16.26	3.072077	0.55646	.	.	ENSG00000146731	ENST00000275603;ENST00000540286	T;T	0.79653	-1.29;-1.29	5.35	4.47	0.54385	.	0.000000	0.85682	D	0.000000	D	0.85708	0.5759	M	0.91249	3.19	0.80722	D	1	B;B	0.32507	0.373;0.373	B;B	0.38428	0.273;0.189	D	0.86404	0.1744	10	0.66056	D	0.02	-14.7295	12.8405	0.57800	0.0:0.9212:0.0:0.0788	.	80;111	B4DPJ8;P40227	.;TCPZ_HUMAN	C	111;80	ENSP00000275603:S111C;ENSP00000438488:S80C	ENSP00000275603:S111C	S	+	2	0	CCT6A	56089686	1.000000	0.71417	1.000000	0.80357	0.892000	0.51952	7.175000	0.77632	1.245000	0.43885	0.491000	0.48974	TCT	CCT6A	-	pfam_Cpn60/TCP-1,superfamily_Cpn60/TCP-1,prints_Chaprnin_Cpn60,tigrfam_Chap_CCT_zeta		0.378	CCT6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CCT6A	HGNC	protein_coding	OTTHUMT00000251526.2	C	NM_001762		56122192	+1	no_errors	ENST00000275603	ensembl	human	known	70_37	missense	SNP	1.000	G
CHDH	55349	genome.wustl.edu	37	3	53853588	53853588	+	Missense_Mutation	SNP	G	G	A			TCGA-DR-A0ZL-01A-11D-A10S-08	TCGA-DR-A0ZL-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e88a707-20f2-4cee-a1f4-21dd68ea49b8	3dc49f42-9237-4a15-8ff4-f6ec60a70467	g.chr3:53853588G>A	ENST00000315251.6	-	7	1671	c.1234C>T	c.(1234-1236)Cgg>Tgg	p.R412W		NM_018397.4	NP_060867.2	Q8NE62	CHDH_HUMAN	choline dehydrogenase	412					glycine betaine biosynthetic process from choline (GO:0019285)	mitochondrial inner membrane (GO:0005743)	choline dehydrogenase activity (GO:0008812)|flavin adenine dinucleotide binding (GO:0050660)	p.R412W(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)	17		Hepatocellular(537;0.152)		BRCA - Breast invasive adenocarcinoma(193;0.000158)|KIRC - Kidney renal clear cell carcinoma(284;0.00588)|Kidney(284;0.00673)|OV - Ovarian serous cystadenocarcinoma(275;0.118)	Choline(DB00122)	GTGGGGACCCGCCCGTGGTCA	0.612																																																	1	Substitution - Missense(1)	cervix(1)											72.0	79.0	77.0					3																	53853588		2203	4300	6503	SO:0001583	missense	55349			AJ272267	CCDS2873.1	3p21	2004-11-24			ENSG00000016391	ENSG00000016391	1.1.99.1		24288	protein-coding gene	gene with protein product							Standard	NM_018397		Approved		uc003dgz.3	Q8NE62	OTTHUMG00000158281	ENST00000315251.6:c.1234C>T	3.37:g.53853588G>A	ENSP00000319851:p.Arg412Trp	Somatic		WXS	Illumina HiSeq	Phase_IV	Q9NY17	Missense_Mutation	SNP	pfam_GMC_OxRdtase_N,pfam_GMC_OxRtase_C,pirsf_GMC_OxRdtase	p.R412W	ENST00000315251.6	37	c.1234	CCDS2873.1	3	.	.	.	.	.	.	.	.	.	.	G	24.6	4.547919	0.86022	.	.	ENSG00000016391	ENST00000315251	T	0.45668	0.89	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	T	0.66268	0.2772	M	0.76838	2.35	0.80722	D	1	D	0.89917	1.0	D	0.68483	0.958	T	0.69209	-0.5205	10	0.72032	D	0.01	-47.8521	17.8535	0.88755	0.0:0.0:1.0:0.0	.	412	Q8NE62	CHDH_HUMAN	W	412	ENSP00000319851:R412W	ENSP00000319851:R412W	R	-	1	2	CHDH	53828628	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	5.286000	0.65639	2.668000	0.90789	0.563000	0.77884	CGG	CHDH	-	pirsf_GMC_OxRdtase		0.612	CHDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CHDH	HGNC	protein_coding	OTTHUMT00000350567.2	G	NM_018397		53853588	-1	no_errors	ENST00000315251	ensembl	human	known	70_37	missense	SNP	1.000	A
COL19A1	1310	genome.wustl.edu	37	6	70610139	70610139	+	Missense_Mutation	SNP	C	C	G			TCGA-DR-A0ZL-01A-11D-A10S-08	TCGA-DR-A0ZL-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e88a707-20f2-4cee-a1f4-21dd68ea49b8	3dc49f42-9237-4a15-8ff4-f6ec60a70467	g.chr6:70610139C>G	ENST00000322773.4	+	4	277	c.175C>G	c.(175-177)Cta>Gta	p.L59V		NM_001858.4	NP_001849.2	Q14993	COJA1_HUMAN	collagen, type XIX, alpha 1	59	Laminin G-like.				cell adhesion (GO:0007155)|cell differentiation (GO:0030154)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|single organismal cell-cell adhesion (GO:0016337)|skeletal muscle tissue development (GO:0007519)|skeletal system development (GO:0001501)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|protein binding, bridging (GO:0030674)	p.L59V(1)		breast(4)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(8)|lung(54)|ovary(3)|prostate(2)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	109						AGGTTTTGATCTAGGAGACAG	0.294																																																	1	Substitution - Missense(1)	cervix(1)											67.0	67.0	67.0					6																	70610139		2203	4295	6498	SO:0001583	missense	1310				CCDS4970.1	6q12-q13	2013-01-16			ENSG00000082293	ENSG00000082293		"""Collagens"""	2196	protein-coding gene	gene with protein product		120165				7916703, 9143499	Standard	NM_001858		Approved		uc003pfc.1	Q14993	OTTHUMG00000014987	ENST00000322773.4:c.175C>G	6.37:g.70610139C>G	ENSP00000316030:p.Leu59Val	Somatic		WXS	Illumina HiSeq	Phase_IV	Q00559|Q05850|Q12885|Q13676|Q14DH1|Q5JUF0|Q5T424|Q9H572|Q9NPZ2|Q9NQP2	Missense_Mutation	SNP	pfam_Collagen,superfamily_ConA-like_lec_gl_sf,smart_Laminin_G	p.L59V	ENST00000322773.4	37	c.175	CCDS4970.1	6	.	.	.	.	.	.	.	.	.	.	C	9.901	1.206860	0.22205	.	.	ENSG00000082293	ENST00000322773	T	0.49720	0.77	5.9	0.346	0.16017	Concanavalin A-like lectin/glucanase (1);Laminin G, thrombospondin-type, N-terminal (1);	0.109437	0.35466	N	0.003197	T	0.20373	0.0490	L	0.46614	1.455	0.80722	D	1	B	0.16603	0.018	B	0.17722	0.019	T	0.09885	-1.0654	10	0.59425	D	0.04	.	7.5047	0.27538	0.0:0.527:0.2166:0.2563	.	59	Q14993	COJA1_HUMAN	V	59	ENSP00000316030:L59V	ENSP00000316030:L59V	L	+	1	2	COL19A1	70666860	1.000000	0.71417	0.996000	0.52242	0.952000	0.60782	0.647000	0.24812	0.101000	0.17610	0.650000	0.86243	CTA	COL19A1	-	superfamily_ConA-like_lec_gl_sf,smart_Laminin_G		0.294	COL19A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL19A1	HGNC	protein_coding	OTTHUMT00000041127.1	C			70610139	+1	no_errors	ENST00000322773	ensembl	human	known	70_37	missense	SNP	0.981	G
COPS2	9318	genome.wustl.edu	37	15	49420152	49420152	+	Missense_Mutation	SNP	C	C	T			TCGA-DR-A0ZL-01A-11D-A10S-08	TCGA-DR-A0ZL-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e88a707-20f2-4cee-a1f4-21dd68ea49b8	3dc49f42-9237-4a15-8ff4-f6ec60a70467	g.chr15:49420152C>T	ENST00000388901.5	-	13	1400	c.1327G>A	c.(1327-1329)Gct>Act	p.A443T	COPS2_ENST00000299259.6_Missense_Mutation_p.A450T|COPS2_ENST00000542928.1_Missense_Mutation_p.A379T	NM_001143887.1|NM_004236.3	NP_001137359.1|NP_004227.1	P61201	CSN2_HUMAN	COP9 signalosome subunit 2	443					cell proliferation (GO:0008283)|cullin deneddylation (GO:0010388)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron differentiation (GO:0030182)|signal transduction (GO:0007165)|skeletal muscle cell differentiation (GO:0035914)|transcription from RNA polymerase II promoter (GO:0006366)	COP9 signalosome (GO:0008180)|cytoplasm (GO:0005737)	signal transducer activity (GO:0004871)|transcription corepressor activity (GO:0003714)	p.A443T(1)		cervix(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(8)|prostate(1)|skin(2)	18		all_lung(180;0.0428)		all cancers(107;1.34e-07)|GBM - Glioblastoma multiforme(94;3.02e-05)		CTCTGTTAAGCCAGTTTACTG	0.428																																					NSCLC(36;322 1063 10349 30082 48062)|Esophageal Squamous(122;685 1633 15569 21293 52803)												1	Substitution - Missense(1)	cervix(1)											180.0	165.0	170.0					15																	49420152		2196	4295	6491	SO:0001583	missense	9318			AF212227	CCDS32235.1, CCDS45257.1	15q21.2	2013-03-14	2013-03-14						30747	protein-coding gene	gene with protein product		604508	"""COP9 constitutive photomorphogenic homolog subunit 2 (Arabidopsis)"""			7776974, 9535219	Standard	NM_004236		Approved	TRIP15, ALIEN, CSN2	uc001zxh.3	P61201		ENST00000388901.5:c.1327G>A	15.37:g.49420152C>T	ENSP00000373553:p.Ala443Thr	Somatic		WXS	Illumina HiSeq	Phase_IV	O88950|Q15647|Q6FGP4|Q9BY54|Q9R249|Q9UNI2|Q9UNQ5	Missense_Mutation	SNP	pfam_PCI_dom,pfam_COP9_signalosome_subunit_CSN8,smart_PAM,smart_PCI_dom	p.A450T	ENST00000388901.5	37	c.1348	CCDS32235.1	15	.	.	.	.	.	.	.	.	.	.	C	15.55	2.865735	0.51588	.	.	ENSG00000166200	ENST00000299259;ENST00000388901;ENST00000542928	.	.	.	5.86	5.86	0.93980	.	0.050441	0.85682	D	0.000000	T	0.51736	0.1692	N	0.19112	0.55	0.80722	D	1	B;B;B	0.17268	0.021;0.009;0.021	B;B;B	0.18263	0.021;0.008;0.021	T	0.39333	-0.9619	9	0.34782	T	0.22	4.9176	20.2019	0.98263	0.0:1.0:0.0:0.0	.	379;451;443	B4DIH5;Q59EL2;P61201	.;.;CSN2_HUMAN	T	450;443;379	.	ENSP00000299259:A450T	A	-	1	0	COPS2	47207444	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.893000	0.69798	2.776000	0.95493	0.655000	0.94253	GCT	COPS2	-	NULL		0.428	COPS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COPS2	HGNC	protein_coding	OTTHUMT00000417840.1	C	NM_004236		49420152	-1	no_errors	ENST00000299259	ensembl	human	known	70_37	missense	SNP	1.000	T
CPB2	1361	genome.wustl.edu	37	13	46658397	46658397	+	Missense_Mutation	SNP	C	C	T	rs199530853		TCGA-DR-A0ZL-01A-11D-A10S-08	TCGA-DR-A0ZL-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e88a707-20f2-4cee-a1f4-21dd68ea49b8	3dc49f42-9237-4a15-8ff4-f6ec60a70467	g.chr13:46658397C>T	ENST00000181383.4	-	3	248	c.232G>A	c.(232-234)Gac>Aac	p.D78N	CPB2-AS1_ENST00000606351.1_RNA|CPB2-AS1_ENST00000606991.1_RNA|CPB2_ENST00000439329.3_Missense_Mutation_p.D78N|CPB2-AS1_ENST00000415033.2_RNA|CPB2-AS1_ENST00000606243.1_RNA	NM_001872.3	NP_001863.3	Q96IY4	CBPB2_HUMAN	carboxypeptidase B2 (plasma)	78					blood coagulation (GO:0007596)|cellular response to glucose stimulus (GO:0071333)|fibrinolysis (GO:0042730)|liver regeneration (GO:0097421)|negative regulation of fibrinolysis (GO:0051918)|negative regulation of hepatocyte proliferation (GO:2000346)|negative regulation of plasminogen activation (GO:0010757)|positive regulation of extracellular matrix constituent secretion (GO:0003331)|proteolysis (GO:0006508)|response to drug (GO:0042493)|response to heat (GO:0009408)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)	p.D78N(1)		NS(1)|cervix(1)|large_intestine(3)|liver(1)|lung(9)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	21		Lung NSC(96;4.21e-05)|Breast(56;0.000118)|Prostate(109;0.00217)|Hepatocellular(98;0.0207)|Lung SC(185;0.0262)|all_neural(104;0.235)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;5.44e-05)		TTCACATTGTCGACATCAGAT	0.388																																																	1	Substitution - Missense(1)	cervix(1)						C	ASN/ASP,ASN/ASP	0,4406		0,0,2203	179.0	165.0	170.0		232,232	1.6	0.0	13		170	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	CPB2	NM_016413.3,NM_001872.3	23,23	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign,benign	78/361,78/424	46658397	1,13005	2203	4300	6503	SO:0001583	missense	1361			M75106	CCDS9401.1, CCDS73568.1	13q14.11	2012-02-10	2007-02-21		ENSG00000080618	ENSG00000080618			2300	protein-coding gene	gene with protein product	"""thrombin-activatable fibrinolysis inhibitor"", ""carboxypeptidase U"", ""plasma carboxypeptidase B"", ""carboxypeptidase R"""	603101	"""carboxypeptidase B2 (plasma, carboxypeptidase U)"""			1939207, 1427879	Standard	NM_001278541		Approved	CPU, PCPB, TAFI	uc001vaw.3	Q96IY4	OTTHUMG00000016867	ENST00000181383.4:c.232G>A	13.37:g.46658397C>T	ENSP00000181383:p.Asp78Asn	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K464|Q15114|Q5T9K1|Q5T9K2|Q9P2Y6	Missense_Mutation	SNP	pfam_Peptidase_M14,pfam_Prot_inh_M14A,superfamily_Prot_inh_propept,smart_Peptidase_M14,prints_Peptidase_M14	p.D78N	ENST00000181383.4	37	c.232	CCDS9401.1	13	.	.	.	.	.	.	.	.	.	.	C	3.466	-0.108931	0.06924	0.0	1.16E-4	ENSG00000080618	ENST00000181383;ENST00000439329	T;T	0.14391	2.51;2.51	5.41	1.61	0.23674	Proteinase inhibitor, propeptide (1);Proteinase inhibitor, carboxypeptidase propeptide (2);	0.651684	0.18261	N	0.146638	T	0.05502	0.0145	N	0.08118	0	0.09310	N	1	B;B	0.13145	0.007;0.002	B;B	0.08055	0.003;0.002	T	0.42464	-0.9450	10	0.16420	T	0.52	.	6.6438	0.22925	0.0:0.2916:0.0:0.7084	.	78;78	Q96IY4-2;Q96IY4	.;CBPB2_HUMAN	N	78	ENSP00000181383:D78N;ENSP00000400714:D78N	ENSP00000181383:D78N	D	-	1	0	CPB2	45556398	0.000000	0.05858	0.046000	0.18839	0.095000	0.18619	-0.146000	0.10250	0.410000	0.25675	-0.312000	0.09012	GAC	CPB2	-	pfam_Prot_inh_M14A,superfamily_Prot_inh_propept		0.388	CPB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CPB2	HGNC	protein_coding	OTTHUMT00000044803.2	C	NM_001872		46658397	-1	no_errors	ENST00000181383	ensembl	human	known	70_37	missense	SNP	0.004	T
CUBN	8029	genome.wustl.edu	37	10	17146596	17146596	+	Silent	SNP	G	G	T			TCGA-DR-A0ZL-01A-11D-A10S-08	TCGA-DR-A0ZL-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e88a707-20f2-4cee-a1f4-21dd68ea49b8	3dc49f42-9237-4a15-8ff4-f6ec60a70467	g.chr10:17146596G>T	ENST00000377833.4	-	12	1304	c.1239C>A	c.(1237-1239)gtC>gtA	p.V413V		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	413	EGF-like 6. {ECO:0000255|PROSITE- ProRule:PRU00076}.				cholesterol metabolic process (GO:0008203)|cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|tissue homeostasis (GO:0001894)|vitamin D metabolic process (GO:0042359)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|cobalamin binding (GO:0031419)|protein homodimerization activity (GO:0042803)|receptor activity (GO:0004872)|transporter activity (GO:0005215)	p.V413V(1)		breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	AATAACCAGAGACAGTGTCCT	0.378																																																	1	Substitution - coding silent(1)	cervix(1)											65.0	53.0	57.0					10																	17146596		2203	4300	6503	SO:0001819	synonymous_variant	8029			AF034611	CCDS7113.1	10p12	2014-09-17			ENSG00000107611	ENSG00000107611			2548	protein-coding gene	gene with protein product		602997		MGA1		9572993, 9478979	Standard	NM_001081		Approved	IFCR, gp280	uc001ioo.3	O60494	OTTHUMG00000017741	ENST00000377833.4:c.1239C>A	10.37:g.17146596G>T		Somatic		WXS	Illumina HiSeq	Phase_IV	B0YIZ4|Q5VTA6|Q96RU9	Silent	SNP	pfam_CUB,pfam_EG-like_dom,pfam_EGF-like_Ca-bd,superfamily_CUB,superfamily_Growth_fac_rcpt,smart_EGF-like_Ca-bd,smart_EG-like_dom,smart_CUB,pfscan_CUB,pfscan_EG-like_dom	p.V413	ENST00000377833.4	37	c.1239	CCDS7113.1	10																																																																																			CUBN	-	pfam_EG-like_dom,smart_EGF-like_Ca-bd,smart_EG-like_dom,pfscan_EG-like_dom		0.378	CUBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CUBN	HGNC	protein_coding	OTTHUMT00000047009.1	G	NM_001081		17146596	-1	no_errors	ENST00000377833	ensembl	human	known	70_37	silent	SNP	0.417	T
DAPK3	1613	genome.wustl.edu	37	19	3964677	3964677	+	Silent	SNP	G	G	A			TCGA-DR-A0ZL-01A-11D-A10S-08	TCGA-DR-A0ZL-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e88a707-20f2-4cee-a1f4-21dd68ea49b8	3dc49f42-9237-4a15-8ff4-f6ec60a70467	g.chr19:3964677G>A	ENST00000545797.2	-	3	618	c.375C>T	c.(373-375)gaC>gaT	p.D125D	DAPK3_ENST00000301264.3_Silent_p.D125D			O43293	DAPK3_HUMAN	death-associated protein kinase 3	125	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cellular response to interferon-gamma (GO:0071346)|chromatin modification (GO:0016568)|cytokinesis (GO:0000910)|intracellular signal transduction (GO:0035556)|negative regulation of translation (GO:0017148)|neuron differentiation (GO:0030182)|positive regulation of apoptotic process (GO:0043065)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of apoptotic process (GO:0042981)|regulation of autophagy (GO:0010506)|regulation of cell motility (GO:2000145)|regulation of focal adhesion assembly (GO:0051893)|regulation of mitosis (GO:0007088)|regulation of mitotic cell cycle (GO:0007346)|regulation of smooth muscle contraction (GO:0006940)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|PML body (GO:0016605)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)|identical protein binding (GO:0042802)|leucine zipper domain binding (GO:0043522)|protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activity (GO:0004674)|Rho GTPase binding (GO:0017048)	p.D125D(1)		breast(2)|central_nervous_system(3)|cervix(1)|endometrium(3)|large_intestine(2)|lung(7)|ovary(1)|skin(2)	21		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.00461)|STAD - Stomach adenocarcinoma(1328;0.18)		AGTGAACGCCGTCCAGGATCT	0.637																																																	1	Substitution - coding silent(1)	cervix(1)											127.0	126.0	126.0					19																	3964677		2203	4300	6503	SO:0001819	synonymous_variant	1613			AB007144	CCDS12116.1	19p13.3	2008-02-05				ENSG00000167657			2676	protein-coding gene	gene with protein product		603289				9488481	Standard	XM_005259508		Approved	ZIP, ZIPK	uc002lzc.1	O43293		ENST00000545797.2:c.375C>T	19.37:g.3964677G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	A0AVN4|B3KQE2|Q05JY4	Silent	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.D125	ENST00000545797.2	37	c.375	CCDS12116.1	19																																																																																			DAPK3	-	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_LipoPS_kinase,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom		0.637	DAPK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DAPK3	HGNC	protein_coding	OTTHUMT00000457817.2	G	NM_001348		3964677	-1	no_errors	ENST00000301264	ensembl	human	known	70_37	silent	SNP	0.828	A
MGAM2	93432	genome.wustl.edu	37	7	141833802	141833802	+	Silent	SNP	C	C	G	rs144739669	byFrequency	TCGA-DR-A0ZL-01A-11D-A10S-08	TCGA-DR-A0ZL-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e88a707-20f2-4cee-a1f4-21dd68ea49b8	3dc49f42-9237-4a15-8ff4-f6ec60a70467	g.chr7:141833802C>G	ENST00000477922.3	+	7	651	c.597C>G	c.(595-597)ccC>ccG	p.P199P	RP11-1220K2.2_ENST00000550469.2_Silent_p.P199P																endometrium(1)|lung(5)	6						GCATCGGGCCCCTCCAGTTTG	0.547																																																	0																																										SO:0001819	synonymous_variant	0																														ENST00000477922.3:c.597C>G	7.37:g.141833802C>G		Somatic		WXS	Illumina HiSeq	Phase_IV		Silent	SNP	pfam_Glyco_hydro_31,pfam_P_trefoil,superfamily_Glyco_hydro-type_carb-bd,superfamily_Glycoside_hydrolase_SF,superfamily_P_trefoil,smart_P_trefoil	p.P199	ENST00000477922.3	37	c.597		7																																																																																			RP11-1220K2.2	-	superfamily_Glyco_hydro-type_carb-bd		0.547	RP11-1220K2.2-003	PUTATIVE	not_best_in_genome_evidence|basic|appris_principal|exp_conf	protein_coding	ENSG00000257743	Clone_based_vega_gene	protein_coding	OTTHUMT00000351325.3	C			141833802	+1	no_errors	ENST00000550469	ensembl	human	novel	70_37	silent	SNP	0.998	G
ERP29	10961	genome.wustl.edu	37	12	112460369	112460369	+	Missense_Mutation	SNP	G	G	A			TCGA-DR-A0ZL-01A-11D-A10S-08	TCGA-DR-A0ZL-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e88a707-20f2-4cee-a1f4-21dd68ea49b8	3dc49f42-9237-4a15-8ff4-f6ec60a70467	g.chr12:112460369G>A	ENST00000261735.3	+	3	849	c.699G>A	c.(697-699)atG>atA	p.M233I	ERP29_ENST00000455836.1_3'UTR|ERP29_ENST00000546477.1_Missense_Mutation_p.M132I	NM_006817.3	NP_006808.1	P30040	ERP29_HUMAN	endoplasmic reticulum protein 29	233					intracellular protein transport (GO:0006886)|protein folding (GO:0006457)|protein secretion (GO:0009306)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	protein disulfide isomerase activity (GO:0003756)	p.M233I(1)		cervix(1)|endometrium(1)|large_intestine(1)|lung(1)|prostate(1)	5						AGAACAAGATGAGTGACGGGA	0.507																																																	1	Substitution - Missense(1)	cervix(1)											85.0	88.0	87.0					12																	112460369		2203	4300	6503	SO:0001583	missense	10961			X94910	CCDS9158.1, CCDS44977.1	12q24.13	2011-10-19	2005-10-05	2005-10-05		ENSG00000089248		"""Protein disulfide isomerases"""	13799	protein-coding gene	gene with protein product	"""protein disulfide isomerase family A, member 9"""	602287	"""chromosome 12 open reading frame 8"""	C12orf8		9738895, 9037184	Standard	NM_006817		Approved	ERp28, ERp31, ERp29, PDI-DB, PDIA9	uc001ttk.1	P30040	OTTHUMG00000169637	ENST00000261735.3:c.699G>A	12.37:g.112460369G>A	ENSP00000261735:p.Met233Ile	Somatic		WXS	Illumina HiSeq	Phase_IV	C9J183|Q3MJC3|Q6FHT4	Missense_Mutation	SNP	pfam_ERp29_N,pfam_ER_p29_C,superfamily_ER_p29_C,superfamily_Thioredoxin-like_fold,pirsf_ER_p29	p.M233I	ENST00000261735.3	37	c.699	CCDS9158.1	12	.	.	.	.	.	.	.	.	.	.	G	12.62	1.993898	0.35131	.	.	ENSG00000089248	ENST00000261735;ENST00000546477	.	.	.	5.75	5.75	0.90469	Endoplasmic reticulum, protein ERp29, C-terminal (3);	0.000000	0.85682	D	0.000000	T	0.53433	0.1796	L	0.34521	1.04	0.58432	D	0.99999	B	0.06786	0.001	B	0.08055	0.003	T	0.46707	-0.9172	9	0.17369	T	0.5	-26.8541	19.9439	0.97175	0.0:0.0:1.0:0.0	.	233	P30040	ERP29_HUMAN	I	233;132	.	ENSP00000261735:M233I	M	+	3	0	ERP29	110944752	1.000000	0.71417	1.000000	0.80357	0.932000	0.56968	4.937000	0.63513	2.706000	0.92434	0.561000	0.74099	ATG	ERP29	-	pfam_ER_p29_C,superfamily_ER_p29_C,pirsf_ER_p29		0.507	ERP29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ERP29	HGNC	protein_coding	OTTHUMT00000405200.1	G			112460369	+1	no_errors	ENST00000261735	ensembl	human	known	70_37	missense	SNP	1.000	A
PDPK1	5170	genome.wustl.edu	37	16	2608028	2608028	+	Intron	SNP	C	C	T			TCGA-DR-A0ZL-01A-11D-A10S-08	TCGA-DR-A0ZL-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e88a707-20f2-4cee-a1f4-21dd68ea49b8	3dc49f42-9237-4a15-8ff4-f6ec60a70467	g.chr16:2608028C>T	ENST00000342085.4	+	2	434				PDPK1_ENST00000389224.3_Intron|PDPK1_ENST00000354836.5_Intron|RP11-20I23.11_ENST00000569220.1_RNA|RP11-20I23.13_ENST00000563449.2_RNA|PDPK1_ENST00000268673.7_Intron|PDPK1_ENST00000441549.3_Intron	NM_002613.4	NP_002604.1	O15530	PDPK1_HUMAN	3-phosphoinositide dependent protein kinase 1						actin cytoskeleton organization (GO:0030036)|activation of protein kinase B activity (GO:0032148)|blood coagulation (GO:0007596)|calcium-mediated signaling (GO:0019722)|cell migration (GO:0016477)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to insulin stimulus (GO:0032869)|epidermal growth factor receptor signaling pathway (GO:0007173)|extrinsic apoptotic signaling pathway (GO:0097191)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|focal adhesion assembly (GO:0048041)|hyperosmotic response (GO:0006972)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|intracellular signal transduction (GO:0035556)|negative regulation of cardiac muscle cell apoptotic process (GO:0010667)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of toll-like receptor signaling pathway (GO:0034122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-threonine phosphorylation (GO:0018107)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of phospholipase activity (GO:0010518)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of endothelial cell migration (GO:0010594)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of mast cell degranulation (GO:0043304)|regulation of transcription, DNA-templated (GO:0006355)|synaptic transmission (GO:0007268)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|transcription, DNA-templated (GO:0006351)|type B pancreatic cell development (GO:0003323)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)	3-phosphoinositide-dependent protein kinase activity (GO:0004676)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phospholipase activator activity (GO:0016004)|phospholipase binding (GO:0043274)|protein serine/threonine kinase activity (GO:0004674)			central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(2)|ovary(1)	7		Ovarian(90;0.17)			Celecoxib(DB00482)	TCACCTTCCTCGGGGCTTGCC	0.557																																																	0																																										SO:0001627	intron_variant	645644			AF017995	CCDS10472.1, CCDS10473.1, CCDS58411.1	16p13.3	2014-03-20	2014-03-20		ENSG00000140992	ENSG00000140992			8816	protein-coding gene	gene with protein product	"""PkB kinase"""	605213				9094314, 9445477	Standard	NM_002613		Approved	PDK1	uc002cqs.4	O15530	OTTHUMG00000128874	ENST00000342085.4:c.285+64C>T	16.37:g.2608028C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	H0Y4Z0|Q59EH6|Q6FI20|Q8IV52|Q9BRD5	RNA	SNP	-	NULL	ENST00000342085.4	37	NULL	CCDS10472.1	16																																																																																			RP11-20I23.8	-	-		0.557	PDPK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FLJ42627	Clone_based_vega_gene	protein_coding	OTTHUMT00000250831.3	C			2608028	-1	no_errors	ENST00000562485	ensembl	human	known	70_37	rna	SNP	0.000	T
GK	2710	genome.wustl.edu	37	X	30686131	30686131	+	Nonsense_Mutation	SNP	G	G	A			TCGA-DR-A0ZL-01A-11D-A10S-08	TCGA-DR-A0ZL-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e88a707-20f2-4cee-a1f4-21dd68ea49b8	3dc49f42-9237-4a15-8ff4-f6ec60a70467	g.chrX:30686131G>A	ENST00000378941.3	+	3	155	c.155G>A	c.(154-156)tGg>tAg	p.W52*	GK_ENST00000378946.3_Nonsense_Mutation_p.W52*|GK_ENST00000378943.3_Nonsense_Mutation_p.W52*|GK_ENST00000427190.1_5'UTR|GK_ENST00000378945.3_Nonsense_Mutation_p.W52*			P32189	GLPK_HUMAN	glycerol kinase	52					cellular lipid metabolic process (GO:0044255)|glucose homeostasis (GO:0042593)|glycerol catabolic process (GO:0019563)|glycerol metabolic process (GO:0006071)|glycerol-3-phosphate biosynthetic process (GO:0046167)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|triglyceride metabolic process (GO:0006641)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrial outer membrane (GO:0005741)|nucleus (GO:0005634)	ATP binding (GO:0005524)|glycerol kinase activity (GO:0004370)	p.W52*(1)		central_nervous_system(1)|large_intestine(3)	4						GTTCAAAGATGGGTGGAACAG	0.353																																																	1	Substitution - Nonsense(1)	cervix(1)											64.0	53.0	57.0					X																	30686131		2202	4297	6499	SO:0001587	stop_gained	2710			X78711	CCDS14225.1, CCDS35224.1, CCDS48090.1, CCDS75963.1	Xp21.3	2014-09-17			ENSG00000198814	ENSG00000198814	2.7.1.30	"""Glycerol kinases"""	4289	protein-coding gene	gene with protein product		300474				7987308	Standard	NM_203391		Approved	GK1, GKD	uc022buj.1	P32189	OTTHUMG00000021328	ENST00000378941.3:c.155G>A	X.37:g.30686131G>A	ENSP00000368224:p.Trp52*	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NJP5|B2R833|Q6IQ27|Q8IVR5|Q9UMP0|Q9UMP1	Nonsense_Mutation	SNP	pfam_Carb_kinase_FGGY_N,pfam_Carb_kinase_FGGY_C,tigrfam_Glycerol_kin	p.W52*	ENST00000378941.3	37	c.155		X	.	.	.	.	.	.	.	.	.	.	G	36	5.673389	0.96754	.	.	ENSG00000198814	ENST00000378946;ENST00000378943;ENST00000534212;ENST00000378945;ENST00000378941	.	.	.	5.71	5.71	0.89125	.	0.055265	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	17.4274	0.87530	0.0:0.0:1.0:0.0	.	.	.	.	X	52	.	ENSP00000368224:W52X	W	+	2	0	GK	30596052	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	6.999000	0.76283	2.384000	0.81235	0.513000	0.50165	TGG	GK	-	pfam_Carb_kinase_FGGY_N,tigrfam_Glycerol_kin		0.353	GK-005	PUTATIVE	basic|exp_conf	protein_coding	GK	HGNC	protein_coding	OTTHUMT00000056171.1	G	NM_000167		30686131	+1	no_errors	ENST00000378943	ensembl	human	known	70_37	nonsense	SNP	1.000	A
GLIS2	84662	genome.wustl.edu	37	16	4383433	4383433	+	Silent	SNP	A	A	G			TCGA-DR-A0ZL-01A-11D-A10S-08	TCGA-DR-A0ZL-10A-01D-A10S-08	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e88a707-20f2-4cee-a1f4-21dd68ea49b8	3dc49f42-9237-4a15-8ff4-f6ec60a70467	g.chr16:4383433A>G	ENST00000262366.3	+	4	1079	c.258A>G	c.(256-258)ccA>ccG	p.P86P	PAM16_ENST00000577031.1_Intron|GLIS2_ENST00000433375.1_Silent_p.P86P|RP11-295D4.1_ENST00000574705.1_RNA			Q9BZE0	GLIS2_HUMAN	GLIS family zinc finger 2	86	Interaction with CTNND1. {ECO:0000250}.|Transcription activation. {ECO:0000250}.				cell differentiation (GO:0030154)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|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)|transcription regulatory region DNA binding (GO:0044212)	p.P86P(1)		breast(1)|cervix(4)|endometrium(1)|lung(2)|ovary(1)|prostate(1)|urinary_tract(1)	11						TGTCACCACCATCTGGGCTGG	0.657																																																	1	Substitution - coding silent(1)	cervix(1)											39.0	34.0	35.0					16																	4383433		2196	4299	6495	SO:0001819	synonymous_variant	84662			AF325914	CCDS10511.1	16p13.3	2013-01-08			ENSG00000126603	ENSG00000126603		"""Zinc fingers, C2H2-type"""	29450	protein-coding gene	gene with protein product	"""nephrocystin-7"""	608539				11741991, 14500813, 17618285	Standard	NM_032575		Approved	NPHP7	uc002cwc.1	Q9BZE0	OTTHUMG00000129467	ENST00000262366.3:c.258A>G	16.37:g.4383433A>G		Somatic		WXS	Illumina HiSeq	Phase_IV	B3KX84	Silent	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.P86	ENST00000262366.3	37	c.258	CCDS10511.1	16																																																																																			GLIS2	-	NULL		0.657	GLIS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GLIS2	HGNC	protein_coding	OTTHUMT00000251630.1	A	NM_032575		4383433	+1	no_errors	ENST00000262366	ensembl	human	known	70_37	silent	SNP	0.912	G
HIST1H2AG	8969	genome.wustl.edu	37	6	27101231	27101231	+	Silent	SNP	G	G	T			TCGA-DR-A0ZL-01A-11D-A10S-08	TCGA-DR-A0ZL-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e88a707-20f2-4cee-a1f4-21dd68ea49b8	3dc49f42-9237-4a15-8ff4-f6ec60a70467	g.chr6:27101231G>T	ENST00000359193.2	+	1	400	c.381G>T	c.(379-381)gcG>gcT	p.A127A	HIST1H2BJ_ENST00000339812.2_5'Flank|HIST1H2BJ_ENST00000607124.1_5'Flank|HIST1H2BJ_ENST00000541790.1_5'Flank	NM_021064.4	NP_066408.1	P0C0S8	H2A1_HUMAN	histone cluster 1, H2ag	127						extracellular vesicular exosome (GO:0070062)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)|enzyme binding (GO:0019899)	p.A127A(1)		biliary_tract(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(1)	17						ACCACAAGGCGAAGGGCAAGT	0.517																																																	1	Substitution - coding silent(1)	cervix(1)											67.0	64.0	65.0					6																	27101231		2203	4300	6503	SO:0001819	synonymous_variant	8969			L19778	CCDS4619.1	6p22.1	2011-01-27	2006-10-11	2003-02-21	ENSG00000196787	ENSG00000196787		"""Histones / Replication-dependent"""	4737	protein-coding gene	gene with protein product		615012	"""H2A histone family, member P"", ""histone 1, H2ag"""	H2AFP		8179821, 12408966	Standard	NM_021064		Approved	pH2A/f, H2A/p, H2A.1b	uc003niw.3	P0C0S8	OTTHUMG00000014469	ENST00000359193.2:c.381G>T	6.37:g.27101231G>T		Somatic		WXS	Illumina HiSeq	Phase_IV	P02261|Q2M1R2|Q76PA6	Silent	SNP	pfam_Histone_core_D,pfam_CBFA_NFYB_domain,superfamily_Histone-fold,smart_Histone_H2A,prints_Histone_H2A	p.A127	ENST00000359193.2	37	c.381	CCDS4619.1	6																																																																																			HIST1H2AG	-	NULL		0.517	HIST1H2AG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIST1H2AG	HGNC	protein_coding	OTTHUMT00000040137.1	G	NM_021064		27101231	+1	no_errors	ENST00000359193	ensembl	human	known	70_37	silent	SNP	1.000	T
HIST1H4L	8368	genome.wustl.edu	37	6	27841106	27841106	+	Silent	SNP	C	C	T			TCGA-DR-A0ZL-01A-11D-A10S-08	TCGA-DR-A0ZL-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e88a707-20f2-4cee-a1f4-21dd68ea49b8	3dc49f42-9237-4a15-8ff4-f6ec60a70467	g.chr6:27841106C>T	ENST00000355981.2	-	1	183	c.183G>A	c.(181-183)gtG>gtA	p.V61V	HIST1H3I_ENST00000328488.2_5'Flank	NM_003546.2	NP_003537.1	P62805	H4_HUMAN	histone cluster 1, H4l	61					CENP-A containing nucleosome assembly (GO:0034080)|chromatin organization (GO:0006325)|DNA replication-dependent nucleosome assembly (GO:0006335)|DNA replication-independent nucleosome assembly (GO:0006336)|histone H4-K20 demethylation (GO:0035574)|mitotic cell cycle (GO:0000278)|negative regulation of megakaryocyte differentiation (GO:0045653)|nucleosome assembly (GO:0006334)|telomere maintenance (GO:0000723)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nuclear chromosome (GO:0000228)|nucleoplasm (GO:0005654)|nucleosome (GO:0000786)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)|histone demethylase activity (H4-K20 specific) (GO:0035575)|poly(A) RNA binding (GO:0044822)	p.V61V(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)	13						TCTCCAAAAACACTTTAAGAA	0.567																																																	1	Substitution - coding silent(1)	cervix(1)											102.0	86.0	92.0					6																	27841106		2203	4300	6503	SO:0001819	synonymous_variant	8368			X83548	CCDS4637.1	6p22.1	2011-01-27	2006-10-11	2003-02-14	ENSG00000198558	ENSG00000275126		"""Histones / Replication-dependent"""	4791	protein-coding gene	gene with protein product		602831	"""H4 histone family, member K"", ""histone 1, H4l"""	H4FK		9031620, 9439656, 12408966	Standard	NM_003546		Approved	H4.k, H4/k	uc003njz.3	P62805	OTTHUMG00000016211	ENST00000355981.2:c.183G>A	6.37:g.27841106C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A2VCL0|P02304|P02305|Q6DRA9|Q6FGB8|Q6NWP7	Silent	SNP	pfam_Histone_core_D,pfam_TAF_TATA-bd,superfamily_Histone-fold,smart_Histone_H4,smart_TAF_TATA-bd,prints_Histone_H4	p.V61	ENST00000355981.2	37	c.183	CCDS4637.1	6																																																																																			HIST1H4L	-	pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H4,smart_TAF_TATA-bd		0.567	HIST1H4L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIST1H4L	HGNC	protein_coding	OTTHUMT00000043513.1	C	NM_003546		27841106	-1	no_errors	ENST00000355981	ensembl	human	known	70_37	silent	SNP	0.188	T
JMJD1C	221037	genome.wustl.edu	37	10	64944425	64944425	+	Missense_Mutation	SNP	G	G	A			TCGA-DR-A0ZL-01A-11D-A10S-08	TCGA-DR-A0ZL-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e88a707-20f2-4cee-a1f4-21dd68ea49b8	3dc49f42-9237-4a15-8ff4-f6ec60a70467	g.chr10:64944425G>A	ENST00000399262.2	-	21	7122	c.6904C>T	c.(6904-6906)Cat>Tat	p.H2302Y	JMJD1C_ENST00000402544.1_Missense_Mutation_p.H2065Y|JMJD1C_ENST00000399251.1_3'UTR|JMJD1C_ENST00000542921.1_Missense_Mutation_p.H2120Y	NM_032776.1	NP_116165.1	Q15652	JHD2C_HUMAN	jumonji domain containing 1C	2302	JmjC. {ECO:0000255|PROSITE- ProRule:PRU00538}.				blood coagulation (GO:0007596)|chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	intracellular (GO:0005622)|nucleoplasm (GO:0005654)	dioxygenase activity (GO:0051213)|metal ion binding (GO:0046872)|thyroid hormone receptor binding (GO:0046966)	p.H2065Y(1)|p.H2302Y(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(9)|lung(27)|ovary(6)|prostate(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	77	Prostate(12;0.0119)|all_hematologic(501;0.191)					CCTGGCAAATGAGAGGCCAAA	0.378																																																	2	Substitution - Missense(2)	cervix(2)											97.0	96.0	96.0					10																	64944425		1835	4077	5912	SO:0001583	missense	221037			L40411	CCDS41532.1, CCDS60538.1	10q22.1	2011-05-25	2004-03-31	2004-04-01	ENSG00000171988	ENSG00000171988			12313	protein-coding gene	gene with protein product		604503	"""thyroid hormone receptor interactor 8"""	TRIP8		7776974	Standard	XM_005269624		Approved	DKFZp761F0118, KIAA1380, FLJ14374	uc001jmn.3	Q15652	OTTHUMG00000018311	ENST00000399262.2:c.6904C>T	10.37:g.64944425G>A	ENSP00000382204:p.His2302Tyr	Somatic		WXS	Illumina HiSeq	Phase_IV	A0T124|Q5SQZ8|Q5SQZ9|Q5SR00|Q7Z3E7|Q8N3U0|Q96KB9|Q9P2G7	Missense_Mutation	SNP	pfam_JmjC_dom,smart_JmjC_dom,pfscan_JmjC_dom	p.H2302Y	ENST00000399262.2	37	c.6904	CCDS41532.1	10	.	.	.	.	.	.	.	.	.	.	G	18.31	3.595263	0.66219	.	.	ENSG00000171988	ENST00000399262;ENST00000402544;ENST00000542921	T;T;T	0.76316	-1.01;-1.01;-1.01	5.96	5.06	0.68205	Transcription factor jumonji/aspartyl beta-hydroxylase (2);	0.049105	0.85682	D	0.000000	T	0.59555	0.2202	N	0.17800	0.525	0.80722	D	1	P;P;B	0.45176	0.852;0.539;0.146	B;B;B	0.34180	0.177;0.16;0.052	T	0.61397	-0.7071	10	0.33940	T	0.23	-9.3136	11.8696	0.52513	0.1416:0.0:0.8584:0.0	.	2120;2302;2120	B7ZLC8;Q15652;A0T124	.;JHD2C_HUMAN;.	Y	2302;2065;2120	ENSP00000382204:H2302Y;ENSP00000384990:H2065Y;ENSP00000444682:H2120Y	ENSP00000382204:H2302Y	H	-	1	0	JMJD1C	64614431	1.000000	0.71417	1.000000	0.80357	0.952000	0.60782	4.874000	0.63064	1.536000	0.49237	0.585000	0.79938	CAT	JMJD1C	-	smart_JmjC_dom,pfscan_JmjC_dom		0.378	JMJD1C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	JMJD1C	HGNC	protein_coding	OTTHUMT00000048249.2	G	NM_004241		64944425	-1	no_errors	ENST00000399262	ensembl	human	known	70_37	missense	SNP	1.000	A
KIR3DL1	3811	genome.wustl.edu	37	19	55331284	55331284	+	Missense_Mutation	SNP	G	G	C			TCGA-DR-A0ZL-01A-11D-A10S-08	TCGA-DR-A0ZL-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e88a707-20f2-4cee-a1f4-21dd68ea49b8	3dc49f42-9237-4a15-8ff4-f6ec60a70467	g.chr19:55331284G>C	ENST00000391728.4	+	4	505	c.472G>C	c.(472-474)Gag>Cag	p.E158Q	KIR3DL1_ENST00000402254.2_Missense_Mutation_p.E158Q|KIR3DL1_ENST00000358178.4_Missense_Mutation_p.E63Q|KIR3DL1_ENST00000541392.1_Missense_Mutation_p.E158Q|KIR3DL1_ENST00000538269.1_Missense_Mutation_p.E158Q|KIR3DL1_ENST00000326542.7_Missense_Mutation_p.E158Q	NM_013289.2	NP_037421.2	P43629	KI3L1_HUMAN	killer cell immunoglobulin-like receptor, three domains, long cytoplasmic tail, 1	158	Ig-like C2-type 2.				immune response (GO:0006955)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	HLA-B specific inhibitory MHC class I receptor activity (GO:0030109)	p.E158Q(2)		breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	11				GBM - Glioblastoma multiforme(193;0.0192)		TCTGCACAAAGAGGGGATCTC	0.537																																																	2	Substitution - Missense(2)	cervix(2)											193.0	172.0	179.0					19																	55331284		2185	4192	6377	SO:0001583	missense	3811			L41269	CCDS42621.1	19q13.4	2014-05-22			ENSG00000167633	ENSG00000167633		"""Killer cell immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6338	protein-coding gene	gene with protein product		604946		KIR		7716543, 7749980	Standard	NM_013289		Approved	cl-2, NKB1, cl-11, nkat3, NKB1B, AMB11, CD158e1/2, CD158E1, CD158e2		P43629	OTTHUMG00000065933	ENST00000391728.4:c.472G>C	19.37:g.55331284G>C	ENSP00000375608:p.Glu158Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	O43473|Q14946|Q16541	Missense_Mutation	SNP	pfam_Immunoglobulin,smart_Ig_sub	p.E158Q	ENST00000391728.4	37	c.472	CCDS42621.1	19	.	.	.	.	.	.	.	.	.	.	-	10.91	1.484762	0.26598	.	.	ENSG00000167633	ENST00000402254;ENST00000538269;ENST00000541392;ENST00000355608;ENST00000391728;ENST00000326542;ENST00000358178	T;T;T;T;T;T	0.00848	5.62;5.62;5.62;5.62;5.62;5.62	1.44	0.344	0.16006	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);	0.837589	0.09566	U	0.784778	T	0.07908	0.0198	H	0.97852	4.09	0.09310	N	1	D;D;P;P	0.65815	0.992;0.995;0.693;0.802	D;D;B;P	0.69479	0.909;0.964;0.344;0.558	T	0.12811	-1.0533	10	0.87932	D	0	.	3.5831	0.07961	0.2649:0.0:0.7351:0.0	.	158;63;158;158	Q15702;Q14946;F6QF33;P43629	.;.;.;KI3L1_HUMAN	Q	158;158;158;136;158;158;63	ENSP00000384528:E158Q;ENSP00000443350:E158Q;ENSP00000442355:E158Q;ENSP00000375608:E158Q;ENSP00000326868:E158Q;ENSP00000350901:E63Q	ENSP00000326868:E158Q	E	+	1	0	KIR3DL1	60023096	0.001000	0.12720	0.009000	0.14445	0.033000	0.12548	0.176000	0.16782	0.183000	0.20059	0.184000	0.17185	GAG	KIR3DL1	-	smart_Ig_sub		0.537	KIR3DL1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	KIR3DL1	HGNC	protein_coding	OTTHUMT00000141238.1	G	NM_013289		55331284	+1	no_errors	ENST00000402254	ensembl	human	known	70_37	missense	SNP	0.009	C
LRIT2	340745	genome.wustl.edu	37	10	85984344	85984344	+	Missense_Mutation	SNP	G	G	T			TCGA-DR-A0ZL-01A-11D-A10S-08	TCGA-DR-A0ZL-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e88a707-20f2-4cee-a1f4-21dd68ea49b8	3dc49f42-9237-4a15-8ff4-f6ec60a70467	g.chr10:85984344G>T	ENST00000372113.4	-	2	642	c.637C>A	c.(637-639)Cag>Aag	p.Q213K	LRIT2_ENST00000538192.1_Missense_Mutation_p.Q213K	NM_001017924.2	NP_001017924.1	A6NDA9	LRIT2_HUMAN	leucine-rich repeat, immunoglobulin-like and transmembrane domains 2	213	LRRCT.					integral component of membrane (GO:0016021)		p.Q213K(1)		central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(13)|ovary(3)|prostate(6)|urinary_tract(1)	32						TTGACAAACTGGACAAGCCCC	0.557																																																	1	Substitution - Missense(1)	cervix(1)											69.0	70.0	70.0					10																	85984344		2203	4300	6503	SO:0001583	missense	340745				CCDS31234.1, CCDS60581.1	10q23.2	2013-01-11	2007-06-19	2007-06-19	ENSG00000204033	ENSG00000204033		"""Immunoglobulin superfamily / I-set domain containing"""	23443	protein-coding gene	gene with protein product			"""leucine rich repeat containing 22"""	LRRC22			Standard	NM_001017924		Approved	AC022389.4	uc001kcy.3	A6NDA9	OTTHUMG00000018633	ENST00000372113.4:c.637C>A	10.37:g.85984344G>T	ENSP00000361185:p.Gln213Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	B7ZME6	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Leu-rich_rpt,superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.Q213K	ENST00000372113.4	37	c.637	CCDS31234.1	10	.	.	.	.	.	.	.	.	.	.	G	21.2	4.108772	0.77096	.	.	ENSG00000204033	ENST00000372113;ENST00000538192	T;T	0.51325	0.71;0.71	6.17	5.27	0.74061	Cysteine-rich flanking region, C-terminal (1);	0.052085	0.85682	D	0.000000	T	0.61223	0.2330	M	0.82630	2.6	0.47862	D	0.999538	D;D	0.54601	0.967;0.958	P;B	0.49361	0.608;0.369	T	0.65813	-0.6077	10	0.37606	T	0.19	.	16.5999	0.84810	0.0:0.1305:0.8695:0.0	.	213;213	B7ZME6;A6NDA9	.;LRIT2_HUMAN	K	213	ENSP00000361185:Q213K;ENSP00000438264:Q213K	ENSP00000361185:Q213K	Q	-	1	0	LRIT2	85974324	1.000000	0.71417	0.621000	0.29145	0.993000	0.82548	4.857000	0.62939	1.604000	0.50143	0.655000	0.94253	CAG	LRIT2	-	smart_Cys-rich_flank_reg_C		0.557	LRIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRIT2	HGNC	protein_coding	OTTHUMT00000049110.4	G	XM_291697		85984344	-1	no_errors	ENST00000538192	ensembl	human	known	70_37	missense	SNP	1.000	T
MARCKS	4082	genome.wustl.edu	37	6	114179004	114179004	+	Missense_Mutation	SNP	C	C	T			TCGA-DR-A0ZL-01A-11D-A10S-08	TCGA-DR-A0ZL-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e88a707-20f2-4cee-a1f4-21dd68ea49b8	3dc49f42-9237-4a15-8ff4-f6ec60a70467	g.chr6:114179004C>T	ENST00000368635.4	+	1	464	c.83C>T	c.(82-84)cCt>cTt	p.P28L		NM_002356.5	NP_002347.5	P29966	MARCS_HUMAN	myristoylated alanine-rich protein kinase C substrate	28					energy reserve metabolic process (GO:0006112)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)	actin cytoskeleton (GO:0015629)|cell cortex (GO:0005938)|centrosome (GO:0005813)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|germinal vesicle (GO:0042585)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)|calmodulin binding (GO:0005516)			breast(1)|kidney(1)|large_intestine(1)|lung(1)	4		all_cancers(87;7.65e-05)|all_epithelial(87;0.000296)|all_hematologic(75;0.0172)|Colorectal(196;0.0317)|all_lung(197;0.198)		Epithelial(106;1.59e-07)|all cancers(137;9.85e-07)|OV - Ovarian serous cystadenocarcinoma(136;0.000322)		GCCTCGTCGCCTTCCAAAGCG	0.577																																																	0													22.0	22.0	22.0					6																	114179004		2202	4299	6501	SO:0001583	missense	4082			M68956	CCDS5101.1	6q21	2014-04-10	2001-12-17	2001-12-20	ENSG00000155130	ENSG00000277443			6759	protein-coding gene	gene with protein product		177061	"""myristoylated alanine-rich protein kinase C substrate (MARCKS, 80K-L)"""	MACS		1560845, 8420923	Standard	NM_002356		Approved	PKCSL, 80K-L	uc003pvy.4	P29966	OTTHUMG00000188327	ENST00000368635.4:c.83C>T	6.37:g.114179004C>T	ENSP00000357624:p.Pro28Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	E1P560|Q2LA83|Q5TDB7	Missense_Mutation	SNP	pfam_MARCKS,prints_MARCKS	p.P28L	ENST00000368635.4	37	c.83	CCDS5101.1	6	.	.	.	.	.	.	.	.	.	.	C	25.0	4.596929	0.87055	.	.	ENSG00000155130	ENST00000368635	T	0.54866	0.55	4.94	4.94	0.65067	.	0.000000	0.85682	D	0.000000	T	0.66626	0.2808	M	0.64404	1.975	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.68864	-0.5296	10	0.87932	D	0	.	18.74	0.91770	0.0:1.0:0.0:0.0	.	28	P29966	MARCS_HUMAN	L	28	ENSP00000357624:P28L	ENSP00000357624:P28L	P	+	2	0	MARCKS	114285697	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.218000	0.77991	2.746000	0.94184	0.561000	0.74099	CCT	MARCKS	-	pfam_MARCKS,prints_MARCKS		0.577	MARCKS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MARCKS	HGNC	protein_coding	OTTHUMT00000041903.1	C	NM_002356		114179004	+1	no_errors	ENST00000368635	ensembl	human	known	70_37	missense	SNP	1.000	T
MNDA	4332	genome.wustl.edu	37	1	158815714	158815714	+	Missense_Mutation	SNP	C	C	G			TCGA-DR-A0ZL-01A-11D-A10S-08	TCGA-DR-A0ZL-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e88a707-20f2-4cee-a1f4-21dd68ea49b8	3dc49f42-9237-4a15-8ff4-f6ec60a70467	g.chr1:158815714C>G	ENST00000368141.4	+	5	1169	c.908C>G	c.(907-909)gCa>gGa	p.A303G		NM_002432.1	NP_002423.1	P41218	MNDA_HUMAN	myeloid cell nuclear differentiation antigen	303	HIN-200. {ECO:0000255|PROSITE- ProRule:PRU00106}.				B cell receptor signaling pathway (GO:0050853)|cellular defense response (GO:0006968)|cellular response to DNA damage stimulus (GO:0006974)|negative regulation of B cell proliferation (GO:0030889)|positive regulation of apoptotic process (GO:0043065)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.A303G(1)		NS(2)|breast(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|liver(1)|lung(26)|ovary(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65	all_hematologic(112;0.0378)					ATCGAAATAGCAAATAAAACT	0.333																																																	1	Substitution - Missense(1)	cervix(1)											66.0	70.0	69.0					1																	158815714		2203	4300	6503	SO:0001583	missense	4332			BC032319	CCDS1177.1	1q22	2008-02-05			ENSG00000163563	ENSG00000163563			7183	protein-coding gene	gene with protein product		159553				1644857, 7512843	Standard	NM_002432		Approved	PYHIN3	uc001fsz.1	P41218	OTTHUMG00000022776	ENST00000368141.4:c.908C>G	1.37:g.158815714C>G	ENSP00000357123:p.Ala303Gly	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_HIN200/IF120x,pfam_DAPIN,pfscan_DAPIN,pfscan_HIN200/IF120x	p.A303G	ENST00000368141.4	37	c.908	CCDS1177.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.46|17.46	3.396296|3.396296	0.62177|0.62177	.|.	.|.	ENSG00000163563|ENSG00000163563	ENST00000368141|ENST00000438394	T|.	0.49432|.	0.78|.	4.28|4.28	4.28|4.28	0.50868|0.50868	HIN-200/IF120x (2);Nucleic acid-binding, OB-fold (1);|.	0.000000|.	0.38605|.	N|.	0.001633|.	T|T	0.57755|0.57755	0.2075|0.2075	M|M	0.83223|0.83223	2.63|2.63	0.30839|0.30839	N|N	0.735834|0.735834	D|.	0.76494|.	0.999|.	D|.	0.70016|.	0.967|.	T|T	0.57585|0.57585	-0.7786|-0.7786	10|5	0.72032|.	D|.	0.01|.	-16.4024|-16.4024	12.4097|12.4097	0.55459|0.55459	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	303|.	P41218|.	MNDA_HUMAN|.	G|R	303|8	ENSP00000357123:A303G|.	ENSP00000357123:A303G|.	A|S	+|+	2|3	0|2	MNDA|MNDA	157082338|157082338	0.723000|0.723000	0.28027|0.28027	0.639000|0.639000	0.29394|0.29394	0.023000|0.023000	0.10783|0.10783	2.898000|2.898000	0.48672|0.48672	2.352000|2.352000	0.79861|0.79861	0.655000|0.655000	0.94253|0.94253	GCA|AGC	MNDA	-	pfam_HIN200/IF120x,pfscan_HIN200/IF120x		0.333	MNDA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MNDA	HGNC	protein_coding	OTTHUMT00000059069.1	C	NM_002432		158815714	+1	no_errors	ENST00000368141	ensembl	human	known	70_37	missense	SNP	0.719	G
MYO5A	4644	genome.wustl.edu	37	15	52664329	52664329	+	Missense_Mutation	SNP	C	C	G			TCGA-DR-A0ZL-01A-11D-A10S-08	TCGA-DR-A0ZL-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e88a707-20f2-4cee-a1f4-21dd68ea49b8	3dc49f42-9237-4a15-8ff4-f6ec60a70467	g.chr15:52664329C>G	ENST00000399231.3	-	21	3052	c.2809G>C	c.(2809-2811)Gat>Cat	p.D937H	MYO5A_ENST00000356338.6_Missense_Mutation_p.D937H|MYO5A_ENST00000358212.6_Missense_Mutation_p.D937H|MYO5A_ENST00000399233.2_Missense_Mutation_p.D937H|MYO5A_ENST00000553916.1_Missense_Mutation_p.D937H	NM_000259.3	NP_000250	Q9Y4I1	MYO5A_HUMAN	myosin VA (heavy chain 12, myoxin)	937					actin filament-based movement (GO:0030048)|anagen (GO:0042640)|cellular protein metabolic process (GO:0044267)|cellular response to insulin stimulus (GO:0032869)|endoplasmic reticulum localization (GO:0051643)|exocytosis (GO:0006887)|insulin secretion (GO:0030073)|locomotion involved in locomotory behavior (GO:0031987)|long-chain fatty acid biosynthetic process (GO:0042759)|melanin biosynthetic process (GO:0042438)|melanocyte differentiation (GO:0030318)|melanosome transport (GO:0032402)|membrane organization (GO:0061024)|myelination (GO:0042552)|odontogenesis (GO:0042476)|post-Golgi vesicle-mediated transport (GO:0006892)|protein localization to plasma membrane (GO:0072659)|protein transport (GO:0015031)|regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0031585)|secretory granule localization (GO:0032252)|synapse organization (GO:0050808)|synaptic transmission (GO:0007268)|transport (GO:0006810)|vesicle transport along actin filament (GO:0030050)|vesicle-mediated transport (GO:0016192)|visual perception (GO:0007601)	actomyosin (GO:0042641)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium tip (GO:0032433)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|insulin-responsive compartment (GO:0032593)|intermediate filament (GO:0005882)|melanosome (GO:0042470)|membrane (GO:0016020)|microtubule plus-end (GO:0035371)|myosin complex (GO:0016459)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|photoreceptor outer segment (GO:0001750)|ruffle (GO:0001726)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|microfilament motor activity (GO:0000146)|poly(A) RNA binding (GO:0044822)|Rab GTPase binding (GO:0017137)	p.D937H(1)		breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(7)|large_intestine(12)|lung(19)|ovary(3)|skin(3)|stomach(1)	57				all cancers(107;0.0085)|Colorectal(133;0.077)|READ - Rectum adenocarcinoma(133;0.196)		ACCTGCTCATCAACTTTGCGC	0.458																																																	1	Substitution - Missense(1)	cervix(1)											83.0	81.0	82.0					15																	52664329		1950	4145	6095	SO:0001583	missense	4644				CCDS42037.1, CCDS45262.1	15q21	2014-09-17	2006-09-29		ENSG00000197535	ENSG00000197535		"""Myosins / Myosin superfamily : Class V"""	7602	protein-coding gene	gene with protein product	"""myosin, heavy polypeptide kinase"", ""myosin heavy chain 12"", ""myoxin"", ""myosin V"""	160777	"""myosin VA (heavy polypeptide 12, myoxin)"""	MYH12		8188282, 8022818	Standard	NM_000259		Approved	MYO5, GS1, MYR12	uc002aby.2	Q9Y4I1	OTTHUMG00000137383	ENST00000399231.3:c.2809G>C	15.37:g.52664329C>G	ENSP00000382177:p.Asp937His	Somatic		WXS	Illumina HiSeq	Phase_IV	A8MZC5|O60653|Q07902|Q16249|Q9UE30|Q9UE31	Missense_Mutation	SNP	pfam_Myosin_head_motor_dom,pfam_Dil_domain,pfam_IQ_motif_EF-hand-BS,superfamily_Skp1_comp_dimer,smart_Myosin_head_motor_dom,smart_IQ_motif_EF-hand-BS,pfscan_Dilute,pfscan_IQ_motif_EF-hand-BS,prints_Myosin_head_motor_dom	p.D937H	ENST00000399231.3	37	c.2809	CCDS42037.1	15	.	.	.	.	.	.	.	.	.	.	C	23.2	4.383498	0.82792	.	.	ENSG00000197535	ENST00000399231;ENST00000399229;ENST00000399233;ENST00000356338;ENST00000358212;ENST00000546028;ENST00000553916	T;T;T;T;T	0.26810	1.71;1.71;1.71;1.71;1.71	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	T	0.43656	0.1257	L	0.58810	1.83	0.80722	D	1	D;D	0.60160	0.987;0.963	P;P	0.59761	0.863;0.772	T	0.21348	-1.0248	10	0.87932	D	0	.	14.5301	0.67920	0.0:0.93:0.0:0.07	.	937;937	Q9Y4I1;Q9Y4I1-2	MYO5A_HUMAN;.	H	937;471;937;937;937;567;937	ENSP00000382177:D937H;ENSP00000382179:D937H;ENSP00000348693:D937H;ENSP00000350945:D937H;ENSP00000451109:D937H	ENSP00000348693:D937H	D	-	1	0	MYO5A	50451621	0.993000	0.37304	0.907000	0.35723	0.980000	0.70556	3.049000	0.49869	2.894000	0.99253	0.655000	0.94253	GAT	MYO5A	-	NULL		0.458	MYO5A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	MYO5A	HGNC	protein_coding	OTTHUMT00000268102.1	C	NM_000259		52664329	-1	no_errors	ENST00000358212	ensembl	human	known	70_37	missense	SNP	0.995	G
NALCN	259232	genome.wustl.edu	37	13	101728269	101728269	+	Silent	SNP	G	G	A	rs143218624		TCGA-DR-A0ZL-01A-11D-A10S-08	TCGA-DR-A0ZL-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e88a707-20f2-4cee-a1f4-21dd68ea49b8	3dc49f42-9237-4a15-8ff4-f6ec60a70467	g.chr13:101728269G>A	ENST00000251127.6	-	35	3990	c.3909C>T	c.(3907-3909)ggC>ggT	p.G1303G		NM_052867.2	NP_443099.1	Q8IZF0	NALCN_HUMAN	sodium leak channel, non-selective	1303					calcium ion import (GO:0070509)|calcium ion transmembrane transport (GO:0070588)|cell death (GO:0008219)|ion transmembrane transport (GO:0034220)|membrane depolarization during action potential (GO:0086010)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium channel activity (GO:0005272)|voltage-gated calcium channel activity (GO:0005245)	p.G1303G(1)		NS(1)|autonomic_ganglia(2)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(33)|liver(2)|lung(81)|ovary(8)|pancreas(3)|prostate(5)|skin(6)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	177	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					TCACACAAGCGCCCATCATGT	0.318																																																	1	Substitution - coding silent(1)	cervix(1)											107.0	104.0	105.0					13																	101728269		2203	4295	6498	SO:0001819	synonymous_variant	259232			AY141972	CCDS9498.1	13q32.3	2012-02-21	2007-04-26	2007-04-26	ENSG00000102452	ENSG00000102452		"""Ion channels / Sodium leak channels, non-selective"""	19082	protein-coding gene	gene with protein product		611549	"""voltage gated channel like 1"""	VGCNL1		17448995	Standard	XM_006719943		Approved	bA430M15.1, CanIon	uc001vox.1	Q8IZF0	OTTHUMG00000017295	ENST00000251127.6:c.3909C>T	13.37:g.101728269G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q6P2S6|Q6ZMI7|Q8IZZ1|Q8TAH1	Silent	SNP	pfam_Ion_trans_dom	p.G1303	ENST00000251127.6	37	c.3909	CCDS9498.1	13																																																																																			NALCN	-	pfam_Ion_trans_dom		0.318	NALCN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NALCN	HGNC	protein_coding	OTTHUMT00000045663.2	G	NM_052867		101728269	-1	no_errors	ENST00000251127	ensembl	human	known	70_37	silent	SNP	0.332	A
NPHP4	261734	genome.wustl.edu	37	1	5937208	5937208	+	Missense_Mutation	SNP	G	G	A			TCGA-DR-A0ZL-01A-11D-A10S-08	TCGA-DR-A0ZL-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e88a707-20f2-4cee-a1f4-21dd68ea49b8	3dc49f42-9237-4a15-8ff4-f6ec60a70467	g.chr1:5937208G>A	ENST00000378156.4	-	20	3027	c.2762C>T	c.(2761-2763)tCt>tTt	p.S921F	NPHP4_ENST00000478423.2_5'UTR	NM_015102.3	NP_055917.1	O75161	NPHP4_HUMAN	nephronophthisis 4	921					actin cytoskeleton organization (GO:0030036)|hippo signaling (GO:0035329)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|retina development in camera-type eye (GO:0060041)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|visual behavior (GO:0007632)	cell-cell junction (GO:0005911)|centrosome (GO:0005813)|cytosol (GO:0005829)|membrane (GO:0016020)|nonmotile primary cilium (GO:0031513)|tight junction (GO:0005923)	structural molecule activity (GO:0005198)	p.S921F(1)		NS(1)|breast(2)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(4)	47	Ovarian(185;0.0634)	all_cancers(23;7.53e-41)|all_epithelial(116;3.96e-23)|all_lung(118;5.12e-09)|all_hematologic(16;5.45e-07)|Lung NSC(185;5.49e-07)|all_neural(13;3.21e-06)|Acute lymphoblastic leukemia(12;3.44e-05)|Breast(487;0.000601)|Renal(390;0.0007)|Colorectal(325;0.00113)|Hepatocellular(190;0.00213)|Glioma(11;0.00223)|Myeloproliferative disorder(586;0.0256)|Ovarian(437;0.04)|Lung SC(97;0.128)|Medulloblastoma(700;0.213)		Epithelial(90;1.69e-36)|GBM - Glioblastoma multiforme(13;5.07e-29)|OV - Ovarian serous cystadenocarcinoma(86;1.05e-19)|Colorectal(212;4.54e-07)|COAD - Colon adenocarcinoma(227;3.14e-05)|Kidney(185;0.00012)|BRCA - Breast invasive adenocarcinoma(365;0.00102)|KIRC - Kidney renal clear cell carcinoma(229;0.00179)|STAD - Stomach adenocarcinoma(132;0.00472)|READ - Rectum adenocarcinoma(331;0.0649)		CAGGCGCACAGACCTCATCCG	0.667																																																	1	Substitution - Missense(1)	cervix(1)											17.0	20.0	19.0					1																	5937208		2089	4199	6288	SO:0001583	missense	261734			AB014573	CCDS44052.1	1p36	2010-03-26			ENSG00000131697	ENSG00000131697			19104	protein-coding gene	gene with protein product	"""nephroretinin"", ""nephrocystin-4"", ""POC10 centriolar protein homolog (Chlamydomonas)"""	607215				11920287, 12205563	Standard	XR_244787		Approved	SLSN4, KIAA0673, POC10	uc001alq.2	O75161	OTTHUMG00000000701	ENST00000378156.4:c.2762C>T	1.37:g.5937208G>A	ENSP00000367398:p.Ser921Phe	Somatic		WXS	Illumina HiSeq	Phase_IV	Q8IWC0	Missense_Mutation	SNP	NULL	p.S921F	ENST00000378156.4	37	c.2762	CCDS44052.1	1	.	.	.	.	.	.	.	.	.	.	G	12.92	2.082721	0.36758	.	.	ENSG00000131697	ENST00000378156	D	0.86956	-2.19	5.11	4.18	0.49190	.	0.613686	0.14416	N	0.320974	D	0.84383	0.5460	L	0.47716	1.5	0.09310	N	1	P	0.50443	0.935	P	0.46275	0.51	T	0.73464	-0.3974	10	0.30854	T	0.27	.	10.5106	0.44860	0.0971:0.0:0.9029:0.0	.	921	O75161	NPHP4_HUMAN	F	921	ENSP00000367398:S921F	ENSP00000367398:S921F	S	-	2	0	NPHP4	5859795	0.035000	0.19736	0.017000	0.16124	0.047000	0.14425	2.207000	0.42788	1.128000	0.42052	0.462000	0.41574	TCT	NPHP4	-	NULL		0.667	NPHP4-001	KNOWN	non_canonical_polymorphism|basic|appris_principal|CCDS	protein_coding	NPHP4	HGNC	protein_coding	OTTHUMT00000001715.2	G			5937208	-1	no_errors	ENST00000378156	ensembl	human	known	70_37	missense	SNP	0.034	A
NR2C2AP	126382	genome.wustl.edu	37	19	19313670	19313670	+	Missense_Mutation	SNP	C	C	T			TCGA-DR-A0ZL-01A-11D-A10S-08	TCGA-DR-A0ZL-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e88a707-20f2-4cee-a1f4-21dd68ea49b8	3dc49f42-9237-4a15-8ff4-f6ec60a70467	g.chr19:19313670C>T	ENST00000331552.7	-	2	422	c.59G>A	c.(58-60)cGc>cAc	p.R20H	NR2C2AP_ENST00000538165.2_Missense_Mutation_p.R20H|NR2C2AP_ENST00000420605.3_Missense_Mutation_p.R20H|NR2C2AP_ENST00000544883.1_Missense_Mutation_p.R20H	NM_176880.4	NP_795361.1	Q86WQ0	NR2CA_HUMAN	nuclear receptor 2C2-associated protein	20					cell adhesion (GO:0007155)|gene expression (GO:0010467)|transcription initiation from RNA polymerase II promoter (GO:0006367)	extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)		p.R20H(1)		breast(1)|cervix(1)|kidney(2)|ovary(1)	5			Epithelial(12;0.00235)			CCGAGTGTTGCGATTCAGCAC	0.572																																																	1	Substitution - Missense(1)	cervix(1)											98.0	92.0	94.0					19																	19313670		2203	4300	6503	SO:0001583	missense	126382			AY101377	CCDS32967.1, CCDS74316.1	19p13.11	2008-01-10				ENSG00000184162			30763	protein-coding gene	gene with protein product	"""TR4 orphan receptor associated protein TRA16"""	608719				12486131	Standard	XM_005259740		Approved	TRA16	uc002nlx.3	Q86WQ0		ENST00000331552.7:c.59G>A	19.37:g.19313670C>T	ENSP00000332823:p.Arg20His	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NGP7|B4DW92	Missense_Mutation	SNP	pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like	p.R20H	ENST00000331552.7	37	c.59	CCDS32967.1	19	.	.	.	.	.	.	.	.	.	.	C	22.2	4.251293	0.80135	.	.	ENSG00000184162	ENST00000331552;ENST00000420605;ENST00000544883	D;D	0.98234	-4.81;-4.81	4.08	3.04	0.35103	Coagulation factor 5/8 C-terminal type domain (1);Galactose-binding domain-like (1);	0.000000	0.85682	D	0.000000	D	0.98317	0.9442	M	0.74546	2.27	0.51233	D	0.99991	D;D	0.89917	1.0;1.0	D;D	0.71870	0.971;0.975	D	0.98029	1.0375	10	0.72032	D	0.01	-23.1563	7.6606	0.28400	0.0:0.8843:0.0:0.1157	.	20;20	B4DW92;Q86WQ0	.;NR2CA_HUMAN	H	20	ENSP00000332823:R20H;ENSP00000402756:R20H	ENSP00000332823:R20H	R	-	2	0	NR2C2AP	19174670	1.000000	0.71417	0.884000	0.34674	0.905000	0.53344	6.078000	0.71282	0.943000	0.37553	0.462000	0.41574	CGC	NR2C2AP	-	pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Galactose-bd-like		0.572	NR2C2AP-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	NR2C2AP	HGNC	protein_coding	OTTHUMT00000402936.4	C	NM_176880		19313670	-1	no_errors	ENST00000331552	ensembl	human	known	70_37	missense	SNP	0.999	T
NR1H2	7376	genome.wustl.edu	37	19	50885276	50885276	+	Missense_Mutation	SNP	C	C	T			TCGA-DR-A0ZL-01A-11D-A10S-08	TCGA-DR-A0ZL-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e88a707-20f2-4cee-a1f4-21dd68ea49b8	3dc49f42-9237-4a15-8ff4-f6ec60a70467	g.chr19:50885276C>T	ENST00000253727.5	+	9	1316	c.1081C>T	c.(1081-1083)Cgg>Tgg	p.R361W	POLD1_ENST00000599857.1_5'Flank|POLD1_ENST00000440232.2_5'Flank|NR1H2_ENST00000598168.1_Missense_Mutation_p.R331W|NR1H2_ENST00000593926.1_Missense_Mutation_p.R361W|NR1H2_ENST00000542413.1_Missense_Mutation_p.R92W|NR1H2_ENST00000411902.2_Missense_Mutation_p.R264W|NR1H2_ENST00000599105.1_Missense_Mutation_p.R317W	NM_007121.5	NP_009052	P55055	NR1H2_HUMAN	nuclear receptor subfamily 1, group H, member 2	361	Ligand-binding. {ECO:0000255}.				cellular lipid metabolic process (GO:0044255)|gene expression (GO:0010467)|negative regulation of cholesterol storage (GO:0010887)|negative regulation of interferon-gamma-mediated signaling pathway (GO:0060336)|negative regulation of lipid transport (GO:0032369)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|negative regulation of pinocytosis (GO:0048550)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of cholesterol transport (GO:0032376)|positive regulation of fatty acid biosynthetic process (GO:0045723)|positive regulation of lipoprotein lipase activity (GO:0051006)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of triglyceride biosynthetic process (GO:0010867)|regulation of cholesterol homeostasis (GO:2000188)|retinoic acid receptor signaling pathway (GO:0048384)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	apolipoprotein A-I receptor binding (GO:0034191)|ATPase binding (GO:0051117)|DNA binding (GO:0003677)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific transcription regulatory region DNA binding RNA polymerase II transcription factor recruiting transcription factor activity (GO:0001133)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(1)|lung(3)|upper_aerodigestive_tract(2)	8		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00757)|GBM - Glioblastoma multiforme(134;0.0186)		GGCCATGCGGCGGCTGGGCCT	0.687																																																	0													13.0	17.0	15.0					19																	50885276		2176	4269	6445	SO:0001583	missense	7376			U14534	CCDS42593.1, CCDS58673.1	19q13.3	2013-01-16				ENSG00000131408		"""Nuclear hormone receptors"""	7965	protein-coding gene	gene with protein product	"""liver X receptor-beta"""	600380	"""ubiquitously-expressed nuclear receptor"""	UNR		7782080, 7971966	Standard	NM_007121		Approved	NER, NER-I, RIP15, LXR-b	uc010enw.4	P55055		ENST00000253727.5:c.1081C>T	19.37:g.50885276C>T	ENSP00000253727:p.Arg361Trp	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K490|B4DNM6|E7EWA6|Q12970|Q5I0Y1	Missense_Mutation	SNP	pfam_Nucl_hrmn_rcpt_lig-bd_core,pfam_Znf_hrmn_rcpt,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_Liver_X_rcpt,prints_Str_hrmn_rcpt,prints_Znf_hrmn_rcpt,prints_Ecdystd_rcpt,prints_ThyrH_rcpt	p.R361W	ENST00000253727.5	37	c.1081	CCDS42593.1	19	.	.	.	.	.	.	.	.	.	.	C	17.83	3.485294	0.63962	.	.	ENSG00000131408	ENST00000542413;ENST00000253727;ENST00000411902;ENST00000376942	D;D;D	0.96856	-4.15;-4.15;-4.15	3.62	1.37	0.22104	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (2);	0.142257	0.30732	N	0.008994	D	0.96109	0.8732	L	0.51422	1.61	0.35880	D	0.828872	D;D;D	0.89917	1.0;0.999;0.999	D;D;D	0.68483	0.958;0.92;0.92	D	0.95135	0.8258	10	0.72032	D	0.01	.	6.7216	0.23332	0.1765:0.7247:0.0:0.0988	.	361;264;362	P55055;E7EWA6;F1D8P7	NR1H2_HUMAN;.;.	W	92;361;264;361	ENSP00000445074:R92W;ENSP00000253727:R361W;ENSP00000396151:R264W	ENSP00000253727:R361W	R	+	1	2	NR1H2	55577088	1.000000	0.71417	0.957000	0.39632	0.859000	0.49053	1.183000	0.32041	0.314000	0.23086	0.448000	0.29417	CGG	NR1H2	-	pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Nucl_hrmn_rcpt_lig-bd_core,prints_Liver_X_rcpt,prints_Ecdystd_rcpt		0.687	NR1H2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NR1H2	HGNC	protein_coding	OTTHUMT00000464724.2	C			50885276	+1	no_errors	ENST00000253727	ensembl	human	known	70_37	missense	SNP	0.998	T
OTOA	146183	genome.wustl.edu	37	16	21716722	21716722	+	Intron	SNP	G	G	A			TCGA-DR-A0ZL-01A-11D-A10S-08	TCGA-DR-A0ZL-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e88a707-20f2-4cee-a1f4-21dd68ea49b8	3dc49f42-9237-4a15-8ff4-f6ec60a70467	g.chr16:21716722G>A	ENST00000286149.4	+	11	1147				OTOA_ENST00000388956.4_Intron|OTOA_ENST00000388958.3_Intron|OTOA_ENST00000388957.3_Intron|OTOA_ENST00000569064.1_3'UTR			Q7RTW8	OTOAN_HUMAN	otoancorin						cell-matrix adhesion (GO:0007160)|sensory perception of sound (GO:0007605)|transmission of nerve impulse (GO:0019226)	anchored component of membrane (GO:0031225)|apical plasma membrane (GO:0016324)|proteinaceous extracellular matrix (GO:0005578)				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)	46				GBM - Glioblastoma multiforme(48;0.0414)		AGCATTAGTCGGGATTTAAGT	0.507																																																	0																																										SO:0001627	intron_variant	146183			AK057335	CCDS10600.2, CCDS32403.1, CCDS53994.1	16p12.2	2009-08-18	2002-07-05		ENSG00000155719	ENSG00000155719			16378	protein-coding gene	gene with protein product	"""cancer/testis antigen 108"""	607038	"""deafness, autosomal recessive 22"""	DFNB22		11972037, 19088187	Standard	NM_170664		Approved	CT108	uc002djh.3	Q7RTW8	OTTHUMG00000090721	ENST00000286149.4:c.1146+109G>A	16.37:g.21716722G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	A1L3A8|A2VDI0|B3KWU3|E9PF51|Q8NA86|Q96M76	RNA	SNP	-	NULL	ENST00000286149.4	37	NULL		16																																																																																			OTOA	-	-		0.507	OTOA-003	KNOWN	basic	protein_coding	OTOA	HGNC	protein_coding	OTTHUMT00000430021.1	G			21716722	+1	no_errors	ENST00000569064	ensembl	human	known	70_37	rna	SNP	0.000	A
OVCH1	341350	genome.wustl.edu	37	12	29649141	29649141	+	Missense_Mutation	SNP	G	G	A			TCGA-DR-A0ZL-01A-11D-A10S-08	TCGA-DR-A0ZL-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e88a707-20f2-4cee-a1f4-21dd68ea49b8	3dc49f42-9237-4a15-8ff4-f6ec60a70467	g.chr12:29649141G>A	ENST00000318184.5	-	3	253	c.254C>T	c.(253-255)gCa>gTa	p.A85V		NM_183378.2	NP_899234.2	Q7RTY7	OVCH1_HUMAN	ovochymase 1	85	Peptidase S1 1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular region (GO:0005576)	metal ion binding (GO:0046872)|serine-type endopeptidase activity (GO:0004252)	p.A85V(1)		NS(2)|breast(4)|central_nervous_system(3)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(15)|lung(43)|ovary(5)|pancreas(3)|prostate(2)|skin(1)|soft_tissue(1)|stomach(3)	92	Lung NSC(12;1.84e-09)|Acute lymphoblastic leukemia(23;0.00885)|all_hematologic(23;0.0155)					GCAGTGTGCTGCTGTAACAAC	0.463																																																	1	Substitution - Missense(1)	cervix(1)											80.0	81.0	81.0					12																	29649141		2021	4192	6213	SO:0001583	missense	341350			BN000128		12p11.23	2012-11-08			ENSG00000187950	ENSG00000187950			23080	protein-coding gene	gene with protein product						12838346	Standard	NM_183378		Approved	OVCH	uc001rix.1	Q7RTY7	OTTHUMG00000167741	ENST00000318184.5:c.254C>T	12.37:g.29649141G>A	ENSP00000326708:p.Ala85Val	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfam_Peptidase_S1_S6,pfam_CUB,pfam_Peptidase_S1A_nudel,superfamily_Pept_cys/ser_Trypsin-like,superfamily_CUB,smart_Peptidase_S1_S6,smart_CUB,pfscan_CUB,pfscan_Peptidase_S1_S6,prints_Peptidase_S1A	p.A85V	ENST00000318184.5	37	c.254		12	.	.	.	.	.	.	.	.	.	.	G	15.00	2.703915	0.48412	.	.	ENSG00000187950	ENST00000318184	D	0.95238	-3.65	2.82	0.917	0.19380	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	.	.	.	.	D	0.94381	0.8193	M	0.89030	3	0.19575	N	0.999968	P	0.41624	0.757	P	0.44647	0.456	D	0.88511	0.3089	9	0.87932	D	0	.	3.2089	0.06676	0.145:0.0:0.594:0.261	.	85	Q7RTY7	OVCH1_HUMAN	V	85	ENSP00000326708:A85V	ENSP00000326708:A85V	A	-	2	0	OVCH1	29540408	0.571000	0.26659	0.673000	0.29887	0.703000	0.40648	2.839000	0.48207	0.239000	0.21243	0.655000	0.94253	GCA	OVCH1	-	pfam_Peptidase_S1_S6,superfamily_Pept_cys/ser_Trypsin-like,smart_Peptidase_S1_S6,pfscan_Peptidase_S1_S6		0.463	OVCH1-001	KNOWN	non_canonical_TEC|basic|appris_principal	protein_coding	OVCH1	HGNC	protein_coding	OTTHUMT00000395997.2	G	NM_183378		29649141	-1	no_errors	ENST00000318184	ensembl	human	known	70_37	missense	SNP	0.774	A
PCDHA9	9752	genome.wustl.edu	37	5	140230162	140230162	+	Silent	SNP	G	G	T			TCGA-DR-A0ZL-01A-11D-A10S-08	TCGA-DR-A0ZL-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e88a707-20f2-4cee-a1f4-21dd68ea49b8	3dc49f42-9237-4a15-8ff4-f6ec60a70467	g.chr5:140230162G>T	ENST00000532602.1	+	1	3115	c.2082G>T	c.(2080-2082)gtG>gtT	p.V694V	PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA9_ENST00000378122.3_Silent_p.V694V|PCDHA4_ENST00000512229.2_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA6_ENST00000529310.1_Intron	NM_031857.1	NP_114063.1	Q9Y5H5	PCDA9_HUMAN	protocadherin alpha 9	694					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.V694V(2)		breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|lung(18)|ovary(4)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	59			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGACGCTGGTGGATGTCAACG	0.652																																					Melanoma(55;1800 1972 14909)												2	Substitution - coding silent(2)	cervix(2)											70.0	65.0	67.0					5																	140230162		2196	4273	6469	SO:0001819	synonymous_variant	9752			AF152487	CCDS54920.1	5q31	2010-11-26				ENSG00000204961		"""Cadherins / Protocadherins : Clustered"""	8675	other	complex locus constituent	"""KIAA0345-like 5"""	606315				10380929	Standard	NM_031857		Approved	KIAA0345, PCDH-ALPHA9		Q9Y5H5		ENST00000532602.1:c.2082G>T	5.37:g.140230162G>T		Somatic		WXS	Illumina HiSeq	Phase_IV	O15053|Q2M3S5	Silent	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,prints_Cadherin,pfscan_Cadherin	p.V694	ENST00000532602.1	37	c.2082	CCDS54920.1	5																																																																																			PCDHA9	-	NULL		0.652	PCDHA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHA9	HGNC	protein_coding	OTTHUMT00000372896.2	G	NM_031857		140230162	+1	no_errors	ENST00000532602	ensembl	human	known	70_37	silent	SNP	0.371	T
PCDHGA1	56114	genome.wustl.edu	37	5	140710561	140710561	+	Missense_Mutation	SNP	G	G	T			TCGA-DR-A0ZL-01A-11D-A10S-08	TCGA-DR-A0ZL-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e88a707-20f2-4cee-a1f4-21dd68ea49b8	3dc49f42-9237-4a15-8ff4-f6ec60a70467	g.chr5:140710561G>T	ENST00000517417.1	+	1	310	c.310G>T	c.(310-312)Gtg>Ttg	p.V104L	PCDHGA1_ENST00000378105.3_Missense_Mutation_p.V104L|AC005618.6_ENST00000606901.1_lincRNA	NM_018912.2	NP_061735.1	Q9Y5H4	PCDG1_HUMAN	protocadherin gamma subfamily A, 1	104	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.V104L(2)		breast(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(18)|lung(32)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	78			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCCGTGTCTCGTGAGTTTTAA	0.458																																																	2	Substitution - Missense(2)	cervix(2)											104.0	118.0	113.0					5																	140710561		2203	4300	6503	SO:0001583	missense	56114			AF152318	CCDS54922.1	5q31	2010-01-26				ENSG00000204956		"""Cadherins / Protocadherins : Clustered"""	8696	other	protocadherin		606288				10380929	Standard	NM_018912		Approved	PCDH-GAMMA-A1		Q9Y5H4		ENST00000517417.1:c.310G>T	5.37:g.140710561G>T	ENSP00000431083:p.Val104Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	Q2M273|Q9Y5D6	Missense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.V104L	ENST00000517417.1	37	c.310	CCDS54922.1	5	.	.	.	.	.	.	.	.	.	.	G	0.026	-1.370413	0.01225	.	.	ENSG00000204956	ENST00000517417;ENST00000378105	T;T	0.18016	2.24;2.24	4.37	3.42	0.39159	Cadherin, N-terminal (1);Cadherin (3);Cadherin-like (1);	0.167519	0.28192	N	0.016248	T	0.07593	0.0191	N	0.04805	-0.155	0.21290	N	0.999731	B;B	0.15141	0.012;0.007	B;B	0.21917	0.03;0.037	T	0.28902	-1.0029	10	0.26408	T	0.33	.	7.7451	0.28864	0.0:0.3402:0.512:0.1477	.	104;104	Q9Y5H4-2;Q9Y5H4	.;PCDG1_HUMAN	L	104	ENSP00000431083:V104L;ENSP00000367345:V104L	ENSP00000367345:V104L	V	+	1	0	PCDHGA1	140690745	0.001000	0.12720	0.998000	0.56505	0.578000	0.36192	-0.084000	0.11268	2.432000	0.82394	0.655000	0.94253	GTG	PCDHGA1	-	pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin		0.458	PCDHGA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PCDHGA1	HGNC	protein_coding	OTTHUMT00000374737.1	G	NM_018912		140710561	+1	no_errors	ENST00000517417	ensembl	human	known	70_37	missense	SNP	0.630	T
PFKM	5213	genome.wustl.edu	37	12	48528576	48528576	+	Silent	SNP	C	C	T			TCGA-DR-A0ZL-01A-11D-A10S-08	TCGA-DR-A0ZL-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e88a707-20f2-4cee-a1f4-21dd68ea49b8	3dc49f42-9237-4a15-8ff4-f6ec60a70467	g.chr12:48528576C>T	ENST00000312352.7	+	8	750	c.711C>T	c.(709-711)gaC>gaT	p.D237D	PFKM_ENST00000547587.1_Silent_p.D237D|PFKM_ENST00000359794.5_Silent_p.D237D|PFKM_ENST00000551804.1_Silent_p.D237D|PFKM_ENST00000340802.6_Silent_p.D308D|PFKM_ENST00000395233.2_Silent_p.D237D	NM_001166687.1	NP_001160159.1	P08237	PFKAM_HUMAN	phosphofructokinase, muscle	237	N-terminal catalytic PFK domain 1.				carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|fructose 6-phosphate metabolic process (GO:0006002)|glucose homeostasis (GO:0042593)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|muscle cell cellular homeostasis (GO:0046716)|positive regulation of insulin secretion (GO:0032024)|protein oligomerization (GO:0051259)|small molecule metabolic process (GO:0044281)	6-phosphofructokinase complex (GO:0005945)|apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|sperm principal piece (GO:0097228)	6-phosphofructokinase activity (GO:0003872)|ATP binding (GO:0005524)|fructose binding (GO:0070061)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|metal ion binding (GO:0046872)|protein C-terminus binding (GO:0008022)	p.D308D(1)|p.D237D(1)		NS(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(16)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	35						CACCAGATGACGACTGGGAGG	0.512																																																	2	Substitution - coding silent(2)	cervix(2)											135.0	125.0	129.0					12																	48528576		2203	4300	6503	SO:0001819	synonymous_variant	5213			M26066	CCDS8760.1, CCDS53786.1	12q13.11	2014-06-13					2.7.1.11		8877	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 122"""	610681	"""phosphofructokinase, polypeptide X"""	PFKX			Standard	NM_001166686		Approved	PFK-1, PPP1R122	uc001rrb.2	P08237		ENST00000312352.7:c.711C>T	12.37:g.48528576C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	J3KNX3|Q16814|Q16815|Q6ZTT1	Silent	SNP	pfam_Phosphofructokinase_dom,superfamily_Phosphofructokinase_dom,pirsf_6-phosphofructokinase_euk,prints_Phosphofructokinase,tigrfam_6-phosphofructokinase_euk	p.D237	ENST00000312352.7	37	c.711	CCDS8760.1	12																																																																																			PFKM	-	pfam_Phosphofructokinase_dom,superfamily_Phosphofructokinase_dom,pirsf_6-phosphofructokinase_euk,tigrfam_6-phosphofructokinase_euk		0.512	PFKM-201	KNOWN	basic|appris_principal|CCDS	protein_coding	PFKM	HGNC	protein_coding	OTTHUMT00000406490.1	C	NM_000289		48528576	+1	no_errors	ENST00000312352	ensembl	human	known	70_37	silent	SNP	0.931	T
PLEKHO2	80301	genome.wustl.edu	37	15	65157935	65157935	+	Missense_Mutation	SNP	G	G	A	rs376472778		TCGA-DR-A0ZL-01A-11D-A10S-08	TCGA-DR-A0ZL-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e88a707-20f2-4cee-a1f4-21dd68ea49b8	3dc49f42-9237-4a15-8ff4-f6ec60a70467	g.chr15:65157935G>A	ENST00000323544.4	+	6	1449	c.1321G>A	c.(1321-1323)Gaa>Aaa	p.E441K	AC069368.3_ENST00000437723.1_Intron	NM_001195059.1|NM_025201.4	NP_001181988.1|NP_079477.2	Q8TD55	PKHO2_HUMAN	pleckstrin homology domain containing, family O member 2	441								p.E441K(1)		NS(1)|breast(1)|cervix(3)|endometrium(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	25						TGTTAGTGCCGAAACATTGCT	0.602																																																	1	Substitution - Missense(1)	cervix(1)						G	LYS/GLU,LYS/GLU	0,4404		0,0,2202	40.0	43.0	42.0		1171,1321	3.2	0.0	15		42	1,8597	1.2+/-3.3	0,1,4298	no	missense,missense	PLEKHO2	NM_001195059.1,NM_025201.4	56,56	0,1,6500	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging,probably-damaging	391/441,441/491	65157935	1,13001	2202	4299	6501	SO:0001583	missense	80301			AF318373	CCDS10196.1, CCDS73739.1	15q22.31	2013-01-10	2007-12-14	2007-12-14	ENSG00000241839	ENSG00000241839		"""Pleckstrin homology (PH) domain containing"""	30026	protein-coding gene	gene with protein product			"""pleckstrin homology domain containing, family Q member 1"""	PLEKHQ1		12477932	Standard	NM_025201		Approved	DKFZp761K2312, PP1628, pp9099	uc002anv.3	Q8TD55	OTTHUMG00000133050	ENST00000323544.4:c.1321G>A	15.37:g.65157935G>A	ENSP00000326706:p.Glu441Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q7L4H4|Q8WYS8	Missense_Mutation	SNP	pfam_Pleckstrin_homology,smart_Pleckstrin_homology,pfscan_Pleckstrin_homology	p.E441K	ENST00000323544.4	37	c.1321	CCDS10196.1	15	.	.	.	.	.	.	.	.	.	.	G	8.690	0.907258	0.17833	0.0	1.16E-4	ENSG00000241839	ENST00000323544	T	0.46451	0.87	5.13	3.25	0.37280	.	0.107097	0.64402	D	0.000008	T	0.25195	0.0612	N	0.20986	0.625	0.09310	N	0.999993	B;B	0.30937	0.111;0.301	B;B	0.20767	0.031;0.028	T	0.21861	-1.0233	10	0.87932	D	0	.	8.8097	0.34961	0.1734:0.0:0.8266:0.0	.	391;441	Q8TD55-2;Q8TD55	.;PKHO2_HUMAN	K	441	ENSP00000326706:E441K	ENSP00000326706:E441K	E	+	1	0	PLEKHO2	62944988	0.949000	0.32298	0.028000	0.17463	0.156000	0.22039	1.418000	0.34782	1.152000	0.42452	0.549000	0.68633	GAA	PLEKHO2	-	NULL		0.602	PLEKHO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PLEKHO2	HGNC	protein_coding	OTTHUMT00000256659.1	G	NM_025201		65157935	+1	no_errors	ENST00000323544	ensembl	human	known	70_37	missense	SNP	0.128	A
PTCHD3	374308	genome.wustl.edu	37	10	27702350	27702350	+	Missense_Mutation	SNP	G	G	A	rs147881350|rs35726908		TCGA-DR-A0ZL-01A-11D-A10S-08	TCGA-DR-A0ZL-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e88a707-20f2-4cee-a1f4-21dd68ea49b8	3dc49f42-9237-4a15-8ff4-f6ec60a70467	g.chr10:27702350G>A	ENST00000438700.3	-	1	947	c.830C>T	c.(829-831)aCg>aTg	p.T277M		NM_001034842.3	NP_001030014.2	Q3KNS1	PTHD3_HUMAN	patched domain containing 3	277					spermatid development (GO:0007286)	integral component of membrane (GO:0016021)|sperm midpiece (GO:0097225)	hedgehog receptor activity (GO:0008158)	p.T277M(2)		NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(17)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)	55						CAGGTTGAGCGTTTTGTTCAC	0.612													G|||	1	0.000199681	0.0	0.0	5008	,	,		16599	0.0		0.001	False		,,,				2504	0.0																2	Substitution - Missense(2)	cervix(1)|large_intestine(1)						G	MET/THR	0,4406		0,0,2203	59.0	65.0	63.0		830	-2.5	0.0	10	dbSNP_134	63	1,8599	1.2+/-3.3	0,1,4299	no	missense	PTCHD3	NM_001034842.3	81	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	277/768	27702350	1,13005	2203	4300	6503	SO:0001583	missense	374308			AK126025	CCDS31173.1	10p12.1	2006-05-26			ENSG00000182077	ENSG00000182077			24776	protein-coding gene	gene with protein product		611791					Standard	NM_001034842		Approved	FLJ44037, PTR	uc001itu.2	Q3KNS1	OTTHUMG00000017860	ENST00000438700.3:c.830C>T	10.37:g.27702350G>A	ENSP00000417658:p.Thr277Met	Somatic		WXS	Illumina HiSeq	Phase_IV	I3L499|Q6ZU28	Missense_Mutation	SNP	pfam_Patched,pfscan_SSD	p.T277M	ENST00000438700.3	37	c.830	CCDS31173.1	10	.	.	.	.	.	.	.	.	.	.	G	12.94	2.088868	0.36855	0.0	1.16E-4	ENSG00000182077	ENST00000438700	D	0.85629	-2.01	3.18	-2.5	0.06384	.	.	.	.	.	T	0.80607	0.4655	L	0.34521	1.04	0.09310	N	1	D	0.67145	0.996	P	0.58721	0.844	T	0.68138	-0.5488	9	0.38643	T	0.18	0.775	1.0447	0.01567	0.2493:0.3549:0.1727:0.2231	.	277	Q3KNS1	PTHD3_HUMAN	M	277	ENSP00000417658:T277M	ENSP00000417658:T277M	T	-	2	0	PTCHD3	27742356	0.000000	0.05858	0.000000	0.03702	0.017000	0.09413	-1.368000	0.02580	-0.503000	0.06586	0.561000	0.74099	ACG	PTCHD3	-	pfam_Patched		0.612	PTCHD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTCHD3	HGNC	protein_coding	OTTHUMT00000047325.3	G	XM_370541		27702350	-1	no_errors	ENST00000438700	ensembl	human	known	70_37	missense	SNP	0.000	A
RBM25	58517	genome.wustl.edu	37	14	73566412	73566412	+	Missense_Mutation	SNP	G	G	C			TCGA-DR-A0ZL-01A-11D-A10S-08	TCGA-DR-A0ZL-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e88a707-20f2-4cee-a1f4-21dd68ea49b8	3dc49f42-9237-4a15-8ff4-f6ec60a70467	g.chr14:73566412G>C	ENST00000261973.7	+	9	1106	c.821G>C	c.(820-822)aGa>aCa	p.R274T	RBM25_ENST00000527432.1_Missense_Mutation_p.R274T|RBM25_ENST00000540173.1_Missense_Mutation_p.R274T|RBM25_ENST00000526754.1_Missense_Mutation_p.R274T|RBM25_ENST00000525321.1_Missense_Mutation_p.R274T	NM_021239.2	NP_067062.1	P49756	RBM25_HUMAN	RNA binding motif protein 25	274					mRNA processing (GO:0006397)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of apoptotic process (GO:0042981)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.R274T(1)		breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(6)|ovary(2)|pancreas(1)	31				BRCA - Breast invasive adenocarcinoma(234;0.00362)|OV - Ovarian serous cystadenocarcinoma(108;0.0688)		GAAGACAAAAGAGACCTGATA	0.353																																																	1	Substitution - Missense(1)	cervix(1)											142.0	146.0	145.0					14																	73566412		2203	4299	6502	SO:0001583	missense	58517			BX647116	CCDS32113.1	14q24.3	2013-02-12	2004-04-23	2004-04-29	ENSG00000119707	ENSG00000119707		"""RNA binding motif (RRM) containing"""	23244	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 94"""	612427	"""RNA-binding region (RNP1, RRM) containing 7"""	RNPC7		9847074, 7596406	Standard	NM_021239		Approved	S164, fSAP94, NET52, Snu71	uc001xno.3	P49756	OTTHUMG00000167540	ENST00000261973.7:c.821G>C	14.37:g.73566412G>C	ENSP00000261973:p.Arg274Thr	Somatic		WXS	Illumina HiSeq	Phase_IV	A0PJL9|B2RNA8|B3KT03|Q2TA72|Q5XJ17|Q6P665|Q9H6A1|Q9UEQ5|Q9UIE9	Missense_Mutation	SNP	pfam_PWI,pfam_RRM_dom,superfamily_PWI,smart_RRM_dom,smart_PWI,pfscan_RRM_dom	p.R274T	ENST00000261973.7	37	c.821	CCDS32113.1	14	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.70|14.70	2.612286|2.612286	0.46631|0.46631	.|.	.|.	ENSG00000119707|ENSG00000119707	ENST00000532192|ENST00000261973;ENST00000540173;ENST00000527432;ENST00000525321;ENST00000526754	.|T;T;T;T;T	.|0.51574	.|1.11;0.7;1.11;0.78;0.7	5.06|5.06	5.06|5.06	0.68205|0.68205	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.68146|0.68146	0.2969|0.2969	M|M	0.65975|0.65975	2.015|2.015	0.80722|0.80722	D|D	1|1	.|P;D	.|0.89917	.|0.898;1.0	.|B;D	.|0.76575	.|0.354;0.988	T|T	0.71167|0.71167	-0.4672|-0.4672	5|10	.|0.62326	.|D	.|0.03	.|.	18.3985|18.3985	0.90507|0.90507	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|274;274	.|P49756;P49756-2	.|RBM25_HUMAN;.	Q|T	53|274	.|ENSP00000261973:R274T;ENSP00000437934:R274T;ENSP00000431150:R274T;ENSP00000436868:R274T;ENSP00000436225:R274T	.|ENSP00000261973:R274T	E|R	+|+	1|2	0|0	RBM25|RBM25	72636165|72636165	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	8.019000|8.019000	0.88732|0.88732	2.346000|2.346000	0.79739|0.79739	0.484000|0.484000	0.47621|0.47621	GAG|AGA	RBM25	-	NULL		0.353	RBM25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RBM25	HGNC	protein_coding	OTTHUMT00000394966.1	G	XM_027330		73566412	+1	no_errors	ENST00000261973	ensembl	human	known	70_37	missense	SNP	1.000	C
RGAG1	57529	genome.wustl.edu	37	X	109696778	109696778	+	Missense_Mutation	SNP	C	C	T	rs146399635	byFrequency	TCGA-DR-A0ZL-01A-11D-A10S-08	TCGA-DR-A0ZL-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e88a707-20f2-4cee-a1f4-21dd68ea49b8	3dc49f42-9237-4a15-8ff4-f6ec60a70467	g.chrX:109696778C>T	ENST00000465301.2	+	3	3179	c.2933C>T	c.(2932-2934)cCg>cTg	p.P978L	RGAG1_ENST00000540313.1_Missense_Mutation_p.P978L	NM_020769.2	NP_065820.1	Q8NET4	RGAG1_HUMAN	retrotransposon gag domain containing 1	978								p.P978L(1)		NS(1)|autonomic_ganglia(1)|breast(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	73						ATGTCTATGCCGCTAATGGAA	0.498																																																	1	Substitution - Missense(1)	cervix(1)						C	LEU/PRO	3,3832		0,1,2,1631,569	166.0	151.0	156.0		2933	3.9	0.0	X	dbSNP_134	156	0,6728		0,0,0,2428,1872	no	missense	RGAG1	NM_020769.2	98	0,1,2,4059,2441	TT,TC,T,CC,C		0.0,0.0782,0.0284	probably-damaging	978/1389	109696778	3,10560	2203	4300	6503	SO:0001583	missense	57529			AY121804	CCDS14552.1	Xq23	2008-02-05			ENSG00000243978	ENSG00000243978			29245	protein-coding gene	gene with protein product						10718198, 15716091, 16093683	Standard	NM_020769		Approved	KIAA1318, Mart9, Mar9	uc004eor.2	Q8NET4	OTTHUMG00000022196	ENST00000465301.2:c.2933C>T	X.37:g.109696778C>T	ENSP00000419786:p.Pro978Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	Q9P2M8	Missense_Mutation	SNP	NULL	p.P978L	ENST00000465301.2	37	c.2933	CCDS14552.1	X	.	.	.	.	.	.	.	.	.	.	C	11.58	1.680634	0.29872	7.82E-4	0.0	ENSG00000243978	ENST00000465301;ENST00000540313	T;T	0.57752	0.38;0.38	3.89	3.89	0.44902	.	.	.	.	.	T	0.66015	0.2747	L	0.58428	1.81	0.22693	N	0.998848	D	0.76494	0.999	D	0.65773	0.938	T	0.55431	-0.8142	8	.	.	.	-6.0477	12.7884	0.57520	0.0:1.0:0.0:0.0	.	978	Q8NET4	RGAG1_HUMAN	L	978	ENSP00000419786:P978L;ENSP00000441452:P978L	.	P	+	2	0	RGAG1	109583434	0.030000	0.19436	0.025000	0.17156	0.020000	0.10135	1.358000	0.34102	2.174000	0.68829	0.600000	0.82982	CCG	RGAG1	-	NULL		0.498	RGAG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RGAG1	HGNC	protein_coding	OTTHUMT00000057906.2	C	NM_020769		109696778	+1	no_errors	ENST00000465301	ensembl	human	known	70_37	missense	SNP	0.112	T
RNF219	79596	genome.wustl.edu	37	13	79189884	79189884	+	Missense_Mutation	SNP	G	G	C			TCGA-DR-A0ZL-01A-11D-A10S-08	TCGA-DR-A0ZL-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e88a707-20f2-4cee-a1f4-21dd68ea49b8	3dc49f42-9237-4a15-8ff4-f6ec60a70467	g.chr13:79189884G>C	ENST00000282003.6	-	6	2070	c.2012C>G	c.(2011-2013)tCt>tGt	p.S671C	RNF219-AS1_ENST00000560209.2_RNA|RNF219-AS1_ENST00000606429.1_RNA|RNF219-AS1_ENST00000560584.2_RNA	NM_024546.3	NP_078822.3	Q5W0B1	RN219_HUMAN	ring finger protein 219	671	Ser-rich.						zinc ion binding (GO:0008270)	p.S671C(1)		breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(11)|liver(1)|lung(11)|prostate(1)|skin(1)	32		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.0848)		GBM - Glioblastoma multiforme(99;0.0414)		CTTAAACAAAGATGACCCAAA	0.403																																																	1	Substitution - Missense(1)	cervix(1)											117.0	120.0	119.0					13																	79189884		2203	4300	6503	SO:0001583	missense	79596			BC028586	CCDS31997.1	13q31.1	2011-05-23	2008-03-26	2008-03-26	ENSG00000152193	ENSG00000152193		"""RING-type (C3HC4) zinc fingers"""	20308	protein-coding gene	gene with protein product		615906	"""chromosome 13 open reading frame 7"""	C13orf7			Standard	XM_006719865		Approved	FLJ13449	uc001vkw.1	Q5W0B1	OTTHUMG00000017122	ENST00000282003.6:c.2012C>G	13.37:g.79189884G>C	ENSP00000282003:p.Ser671Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	B2RN99|Q8TBY2|Q9H0T2|Q9H8M0	Missense_Mutation	SNP	pfscan_Znf_RING	p.S671C	ENST00000282003.6	37	c.2012	CCDS31997.1	13	.	.	.	.	.	.	.	.	.	.	G	13.64	2.296962	0.40594	.	.	ENSG00000152193	ENST00000282003	T	0.19806	2.12	5.66	5.66	0.87406	.	0.000000	0.64402	D	0.000009	T	0.19967	0.0480	L	0.43152	1.355	0.31158	N	0.704672	B	0.22851	0.076	B	0.19148	0.024	T	0.04781	-1.0927	10	0.31617	T	0.26	-11.5815	14.9831	0.71327	0.0:0.1521:0.8479:0.0	.	671	Q5W0B1	RN219_HUMAN	C	671	ENSP00000282003:S671C	ENSP00000282003:S671C	S	-	2	0	RNF219	78087885	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.985000	0.56930	2.832000	0.97577	0.655000	0.94253	TCT	RNF219	-	NULL		0.403	RNF219-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RNF219	HGNC	protein_coding	OTTHUMT00000045363.1	G	NM_024546		79189884	-1	no_errors	ENST00000282003	ensembl	human	known	70_37	missense	SNP	1.000	C
SHROOM4	57477	genome.wustl.edu	37	X	50378576	50378576	+	Missense_Mutation	SNP	C	C	A			TCGA-DR-A0ZL-01A-11D-A10S-08	TCGA-DR-A0ZL-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e88a707-20f2-4cee-a1f4-21dd68ea49b8	3dc49f42-9237-4a15-8ff4-f6ec60a70467	g.chrX:50378576C>A	ENST00000289292.7	-	4	780	c.497G>T	c.(496-498)gGc>gTc	p.G166V	SHROOM4_ENST00000460112.3_Missense_Mutation_p.G50V|SHROOM4_ENST00000376020.2_Missense_Mutation_p.G166V			Q9ULL8	SHRM4_HUMAN	shroom family member 4	166					actin cytoskeleton organization (GO:0030036)|actin filament organization (GO:0007015)|brain development (GO:0007420)|cognition (GO:0050890)	apical plasma membrane (GO:0016324)|basal plasma membrane (GO:0009925)|cortical actin cytoskeleton (GO:0030864)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|myosin II complex (GO:0016460)|stress fiber (GO:0001725)	actin filament binding (GO:0051015)	p.G166V(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(5)|large_intestine(6)|liver(1)|lung(20)|ovary(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	52	Ovarian(276;0.236)					GGTGGCTTGGCCTGGTTGCTC	0.552																																																	1	Substitution - Missense(1)	cervix(1)											80.0	51.0	60.0					X																	50378576		2203	4300	6503	SO:0001583	missense	57477			AB033028	CCDS35277.1	Xp11.22	2008-02-05			ENSG00000158352	ENSG00000158352			29215	protein-coding gene	gene with protein product		300579				10574462, 16615870	Standard	NR_027121		Approved	KIAA1202	uc004dpe.2	Q9ULL8	OTTHUMG00000021521	ENST00000289292.7:c.497G>T	X.37:g.50378576C>A	ENSP00000289292:p.Gly166Val	Somatic		WXS	Illumina HiSeq	Phase_IV	A7E2X9|D6RFW0|Q96LA0	Missense_Mutation	SNP	pfam_ASD2,pfam_PDZ,superfamily_PDZ,smart_PDZ,pfscan_PDZ	p.G166V	ENST00000289292.7	37	c.497	CCDS35277.1	X	.	.	.	.	.	.	.	.	.	.	C	10.28	1.305554	0.23736	.	.	ENSG00000158352	ENST00000289292;ENST00000376020;ENST00000460112	T;T;T	0.16457	2.82;2.82;2.34	6.07	6.07	0.98685	.	0.310897	0.36555	N	0.002538	T	0.27063	0.0663	M	0.69823	2.125	0.53688	D	0.999972	P	0.41366	0.747	B	0.40375	0.327	T	0.02093	-1.1215	10	0.66056	D	0.02	.	18.1887	0.89800	0.0:1.0:0.0:0.0	.	166	Q9ULL8	SHRM4_HUMAN	V	166;166;50	ENSP00000289292:G166V;ENSP00000365188:G166V;ENSP00000421450:G50V	ENSP00000289292:G166V	G	-	2	0	SHROOM4	50395316	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.636000	0.54317	2.574000	0.86865	0.600000	0.82982	GGC	SHROOM4	-	NULL		0.552	SHROOM4-001	KNOWN	NMD_exception|basic|appris_principal|CCDS	protein_coding	SHROOM4	HGNC	protein_coding	OTTHUMT00000056564.4	C	NM_020717		50378576	-1	no_errors	ENST00000289292	ensembl	human	known	70_37	missense	SNP	1.000	A
SIK2	23235	genome.wustl.edu	37	11	111571629	111571629	+	Missense_Mutation	SNP	C	C	G			TCGA-DR-A0ZL-01A-11D-A10S-08	TCGA-DR-A0ZL-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e88a707-20f2-4cee-a1f4-21dd68ea49b8	3dc49f42-9237-4a15-8ff4-f6ec60a70467	g.chr11:111571629C>G	ENST00000304987.3	+	5	671	c.498C>G	c.(496-498)ttC>ttG	p.F166L		NM_015191.1	NP_056006.1	Q9H0K1	SIK2_HUMAN	salt-inducible kinase 2	166	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				insulin receptor signaling pathway (GO:0008286)|intracellular signal transduction (GO:0035556)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of insulin receptor signaling pathway (GO:0046626)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)	p.F166L(2)		breast(1)|central_nervous_system(2)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(3)	30						TTGGAAATTTCTTTAAAAGTG	0.398																																																	2	Substitution - Missense(2)	cervix(1)|large_intestine(1)											71.0	73.0	72.0					11																	111571629		2201	4297	6498	SO:0001583	missense	23235			AB018324	CCDS8347.1	11q23.1	2008-12-23	2008-12-23	2008-12-23	ENSG00000170145	ENSG00000170145			21680	protein-coding gene	gene with protein product		608973	"""SNF1-like kinase 2"""	SNF1LK2		15067358	Standard	NM_015191		Approved	KIAA0781, QIK, DKFZp434K1115, LOH11CR1I	uc001plt.3	Q9H0K1	OTTHUMG00000150644	ENST00000304987.3:c.498C>G	11.37:g.111571629C>G	ENSP00000305976:p.Phe166Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K5B8|B0YJ94|O94878|Q17RV0|Q6AZE2|Q76N03|Q8NCV7|Q96CZ8	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Ser/Thr_kinase_SIK1/2,pfscan_UBA/transl_elong_EF1B_N_euk,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.F166L	ENST00000304987.3	37	c.498	CCDS8347.1	11	.	.	.	.	.	.	.	.	.	.	C	19.19	3.779674	0.70107	.	.	ENSG00000170145	ENST00000304987	T	0.63580	-0.05	5.32	4.4	0.53042	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.089754	0.85682	D	0.000000	T	0.53012	0.1770	N	0.11255	0.115	0.54753	D	0.999989	P	0.51933	0.949	P	0.61132	0.884	T	0.48399	-0.9039	10	0.13108	T	0.6	.	8.6979	0.34307	0.1525:0.7719:0.0:0.0756	.	166	Q9H0K1	SIK2_HUMAN	L	166	ENSP00000305976:F166L	ENSP00000305976:F166L	F	+	3	2	SIK2	111076839	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.584000	0.46102	1.469000	0.48083	0.603000	0.83216	TTC	SIK2	-	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pirsf_Ser/Thr_kinase_SIK1/2,pfscan_Prot_kinase_cat_dom		0.398	SIK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SIK2	HGNC	protein_coding	OTTHUMT00000319352.3	C	NM_015191		111571629	+1	no_errors	ENST00000304987	ensembl	human	known	70_37	missense	SNP	1.000	G
SLC7A14	57709	genome.wustl.edu	37	3	170244566	170244566	+	Missense_Mutation	SNP	T	T	C			TCGA-DR-A0ZL-01A-11D-A10S-08	TCGA-DR-A0ZL-10A-01D-A10S-08	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e88a707-20f2-4cee-a1f4-21dd68ea49b8	3dc49f42-9237-4a15-8ff4-f6ec60a70467	g.chr3:170244566T>C	ENST00000231706.5	-	2	475	c.160A>G	c.(160-162)Acc>Gcc	p.T54A	CLDN11_ENST00000451576.1_Intron|CLDN11_ENST00000486975.1_Intron	NM_020949.2	NP_066000.2	Q8TBB6	S7A14_HUMAN	solute carrier family 7, member 14	54					negative regulation of phosphatase activity (GO:0010923)	integral component of membrane (GO:0016021)|lysosome (GO:0005764)	amino acid transmembrane transporter activity (GO:0015171)	p.T54A(1)		central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|liver(1)|lung(23)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(4)	53	all_cancers(22;2.41e-22)|all_epithelial(15;4.2e-27)|all_lung(20;1.17e-16)|Lung NSC(18;4.91e-16)|Ovarian(172;0.000902)|Breast(254;0.137)		Lung(28;6.23e-13)|LUSC - Lung squamous cell carcinoma(14;1.48e-12)			TCCACTGTGGTGAGTACCTGG	0.572																																																	1	Substitution - Missense(1)	cervix(1)											264.0	198.0	221.0					3																	170244566		2203	4300	6503	SO:0001583	missense	57709			BC022968	CCDS33892.1	3q26.2	2014-06-13	2013-07-19		ENSG00000013293	ENSG00000013293		"""Solute carriers"""	29326	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 142"""	615720					Standard	NM_020949		Approved	KIAA1613, PPP1R142	uc003fgz.2	Q8TBB6	OTTHUMG00000158941	ENST00000231706.5:c.160A>G	3.37:g.170244566T>C	ENSP00000231706:p.Thr54Ala	Somatic		WXS	Illumina HiSeq	Phase_IV	B3KV33|Q9HCF9	Missense_Mutation	SNP	pfam_AA-permease_dom	p.T54A	ENST00000231706.5	37	c.160	CCDS33892.1	3	.	.	.	.	.	.	.	.	.	.	T	16.29	3.081745	0.55861	.	.	ENSG00000013293	ENST00000231706	D	0.89939	-2.59	4.99	3.79	0.43588	.	0.102906	0.64402	D	0.000002	D	0.90964	0.7159	M	0.86502	2.82	0.45883	D	0.998732	P	0.36412	0.552	B	0.42462	0.388	D	0.89593	0.3829	10	0.52906	T	0.07	.	11.066	0.47976	0.1393:0.0:0.0:0.8607	.	54	Q8TBB6	S7A14_HUMAN	A	54	ENSP00000231706:T54A	ENSP00000231706:T54A	T	-	1	0	SLC7A14	171727260	1.000000	0.71417	1.000000	0.80357	0.945000	0.59286	3.166000	0.50785	0.798000	0.33994	0.459000	0.35465	ACC	SLC7A14	-	NULL		0.572	SLC7A14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC7A14	HGNC	protein_coding	OTTHUMT00000352598.2	T	NM_020949		170244566	-1	no_errors	ENST00000231706	ensembl	human	known	70_37	missense	SNP	1.000	C
SNRNP27	11017	genome.wustl.edu	37	2	70122315	70122315	+	Missense_Mutation	SNP	C	C	T	rs143382169		TCGA-DR-A0ZL-01A-11D-A10S-08	TCGA-DR-A0ZL-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e88a707-20f2-4cee-a1f4-21dd68ea49b8	3dc49f42-9237-4a15-8ff4-f6ec60a70467	g.chr2:70122315C>T	ENST00000244227.3	+	2	549	c.124C>T	c.(124-126)Cgc>Tgc	p.R42C	SNRNP27_ENST00000409116.1_Missense_Mutation_p.R42C	NM_006857.2	NP_006848.1	Q8WVK2	SNR27_HUMAN	small nuclear ribonucleoprotein 27kDa (U4/U6.U5)	42	Arg-rich.				mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	nucleic acid binding (GO:0003676)	p.R42C(1)		cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(2)|prostate(1)|upper_aerodigestive_tract(1)	11						GAGAAGGAGCCGCTCGCGATC	0.557																																																	1	Substitution - Missense(1)	cervix(1)											41.0	47.0	45.0					2																	70122315		2203	4300	6503	SO:0001583	missense	11017			X76302	CCDS33219.1	2p14	2011-10-11			ENSG00000124380	ENSG00000124380			30240	protein-coding gene	gene with protein product	"""nucleic acid binding protein RY 1"""					7931148	Standard	NM_006857		Approved	RY1	uc002sfw.3	Q8WVK2	OTTHUMG00000152689	ENST00000244227.3:c.124C>T	2.37:g.70122315C>T	ENSP00000244227:p.Arg42Cys	Somatic		WXS	Illumina HiSeq	Phase_IV	Q15410	Missense_Mutation	SNP	pfam_DUF1777	p.R42C	ENST00000244227.3	37	c.124	CCDS33219.1	2	.	.	.	.	.	.	.	.	.	.	C	18.72	3.685174	0.68157	.	.	ENSG00000124380	ENST00000244227;ENST00000409116	T;T	0.61859	0.07;0.07	4.22	4.22	0.49857	Domain of unknown function DUF1777 (1);	0.000000	0.85682	D	0.000000	T	0.76828	0.4042	M	0.83603	2.65	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.83275	0.996;0.965	T	0.80957	-0.1150	10	0.72032	D	0.01	.	14.454	0.67404	0.0:1.0:0.0:0.0	.	42;42	B8ZZ98;Q8WVK2	.;SNR27_HUMAN	C	42	ENSP00000244227:R42C;ENSP00000386608:R42C	ENSP00000244227:R42C	R	+	1	0	SNRNP27	69975819	1.000000	0.71417	1.000000	0.80357	0.870000	0.49936	4.166000	0.58203	2.335000	0.79485	0.462000	0.41574	CGC	SNRNP27	-	pfam_DUF1777		0.557	SNRNP27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SNRNP27	HGNC	protein_coding	OTTHUMT00000327369.1	C	NM_006857		70122315	+1	no_errors	ENST00000244227	ensembl	human	known	70_37	missense	SNP	1.000	T
SPATA31D1	389763	genome.wustl.edu	37	9	84605720	84605720	+	Missense_Mutation	SNP	G	G	T			TCGA-DR-A0ZL-01A-11D-A10S-08	TCGA-DR-A0ZL-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e88a707-20f2-4cee-a1f4-21dd68ea49b8	3dc49f42-9237-4a15-8ff4-f6ec60a70467	g.chr9:84605720G>T	ENST00000344803.2	+	4	382	c.335G>T	c.(334-336)gGc>gTc	p.G112V		NM_001001670.2	NP_001001670.1	Q6ZQQ2	S31D1_HUMAN	SPATA31 subfamily D, member 1	112					cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)		p.G112V(2)									AGTCCTCGGGGCCAGCATCAT	0.542																																																	2	Substitution - Missense(2)	cervix(2)											86.0	76.0	79.0					9																	84605720		1963	4152	6115	SO:0001583	missense	389763				CCDS47986.1	9q21.32	2012-10-12	2012-10-12	2012-10-12	ENSG00000214929	ENSG00000214929			37283	protein-coding gene	gene with protein product			"""family with sequence similarity 75, member D1"""	FAM75D1			Standard	NM_001001670		Approved	FLJ46321	uc004amn.3	Q6ZQQ2	OTTHUMG00000169122	ENST00000344803.2:c.335G>T	9.37:g.84605720G>T	ENSP00000341988:p.Gly112Val	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	NULL	p.G112V	ENST00000344803.2	37	c.335	CCDS47986.1	9	.	.	.	.	.	.	.	.	.	.	G	11.95	1.792811	0.31685	.	.	ENSG00000214929	ENST00000344803	T	0.55234	0.53	2.92	0.975	0.19721	.	0.488092	0.17496	N	0.172180	T	0.61726	0.2370	M	0.70595	2.14	0.09310	N	0.999997	D	0.71674	0.998	D	0.64776	0.929	T	0.51172	-0.8739	10	0.87932	D	0	-4.5356	3.3917	0.07291	0.1426:0.0:0.604:0.2534	.	112	Q6ZQQ2	F75D1_HUMAN	V	112	ENSP00000341988:G112V	ENSP00000341988:G112V	G	+	2	0	FAM75D1	83795540	0.020000	0.18652	0.001000	0.08648	0.000000	0.00434	0.259000	0.18405	0.273000	0.22049	-0.259000	0.10710	GGC	SPATA31D1	-	NULL		0.542	SPATA31D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPATA31D1	HGNC	protein_coding	OTTHUMT00000402325.1	G	NM_001001670		84605720	+1	no_errors	ENST00000344803	ensembl	human	known	70_37	missense	SNP	0.001	T
SVIP	258010	genome.wustl.edu	37	11	22849396	22849396	+	Nonsense_Mutation	SNP	C	C	A			TCGA-DR-A0ZL-01A-11D-A10S-08	TCGA-DR-A0ZL-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e88a707-20f2-4cee-a1f4-21dd68ea49b8	3dc49f42-9237-4a15-8ff4-f6ec60a70467	g.chr11:22849396C>A	ENST00000354193.4	-	2	195	c.79G>T	c.(79-81)Gag>Tag	p.E27*	SVIP_ENST00000533774.1_5'UTR|RP11-17A1.3_ENST00000528701.1_RNA|RP11-17A1.3_ENST00000499625.1_RNA|RP11-17A1.3_ENST00000525963.1_RNA	NM_148893.1	NP_683691.1	Q8NHG7	SVIP_HUMAN	small VCP/p97-interacting protein	27					negative regulation of ER-associated ubiquitin-dependent protein catabolic process (GO:1903070)|negative regulation of protein complex assembly (GO:0031333)|positive regulation of autophagy (GO:0010508)|positive regulation of protein lipidation (GO:1903061)	endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	protein self-association (GO:0043621)	p.E27*(1)		cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)	3						TCTGCAGCCTCTGCAAGCTTT	0.284																																																	1	Substitution - Nonsense(1)	cervix(1)											140.0	129.0	132.0					11																	22849396		1810	4074	5884	SO:0001587	stop_gained	258010			AF527534	CCDS41627.1	11p14.2	2009-03-10				ENSG00000198168			25238	protein-coding gene	gene with protein product						18793143, 17872946, 12529442	Standard	NM_148893		Approved	DKFZp313A2432	uc001mqp.4	Q8NHG7		ENST00000354193.4:c.79G>T	11.37:g.22849396C>A	ENSP00000346130:p.Glu27*	Somatic		WXS	Illumina HiSeq	Phase_IV		Nonsense_Mutation	SNP	NULL	p.E27*	ENST00000354193.4	37	c.79	CCDS41627.1	11	.	.	.	.	.	.	.	.	.	.	C	37	6.454609	0.97581	.	.	ENSG00000198168	ENST00000354193	.	.	.	5.12	5.12	0.69794	.	0.000000	0.49916	D	0.000136	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-10.3599	14.4012	0.67047	0.0:1.0:0.0:0.0	.	.	.	.	X	27	.	ENSP00000346130:E27X	E	-	1	0	SVIP	22805972	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.620000	0.54203	2.539000	0.85634	0.655000	0.94253	GAG	SVIP	-	NULL		0.284	SVIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SVIP	HGNC	protein_coding	OTTHUMT00000387725.2	C	NM_148893		22849396	-1	no_errors	ENST00000354193	ensembl	human	known	70_37	nonsense	SNP	1.000	A
TAT	6898	genome.wustl.edu	37	16	71605524	71605524	+	Missense_Mutation	SNP	C	C	G			TCGA-DR-A0ZL-01A-11D-A10S-08	TCGA-DR-A0ZL-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e88a707-20f2-4cee-a1f4-21dd68ea49b8	3dc49f42-9237-4a15-8ff4-f6ec60a70467	g.chr16:71605524C>G	ENST00000355962.4	-	7	877	c.744G>C	c.(742-744)gaG>gaC	p.E248D	RP11-432I5.1_ENST00000561529.1_RNA	NM_000353.2	NP_000344.1	P17735	ATTY_HUMAN	tyrosine aminotransferase	248					2-oxoglutarate metabolic process (GO:0006103)|biosynthetic process (GO:0009058)|cellular nitrogen compound metabolic process (GO:0034641)|glutamate metabolic process (GO:0006536)|L-phenylalanine catabolic process (GO:0006559)|response to glucocorticoid (GO:0051384)|response to mercury ion (GO:0046689)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)|tyrosine catabolic process (GO:0006572)	cytosol (GO:0005829)|mitochondrion (GO:0005739)	amino acid binding (GO:0016597)|L-phenylalanine:2-oxoglutarate aminotransferase activity (GO:0080130)|L-tyrosine:2-oxoglutarate aminotransferase activity (GO:0004838)|pyridoxal phosphate binding (GO:0030170)	p.E248D(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(9)|ovary(2)|prostate(1)|skin(3)	29		Ovarian(137;0.125)		Kidney(780;0.0157)	L-Phenylalanine(DB00120)|L-Tyrosine(DB00135)	CTCCATAGATCTCATCAGCTA	0.363																																					Melanoma(198;542 2142 10292 21661 50033)|Esophageal Squamous(48;487 1013 5572 44395 52594)												1	Substitution - Missense(1)	cervix(1)											102.0	95.0	97.0					16																	71605524		2198	4300	6498	SO:0001583	missense	6898				CCDS10903.1	16q22.1	2012-10-02			ENSG00000198650	ENSG00000198650	2.6.1.5		11573	protein-coding gene	gene with protein product		613018					Standard	NM_000353		Approved		uc002fap.2	P17735	OTTHUMG00000137590	ENST00000355962.4:c.744G>C	16.37:g.71605524C>G	ENSP00000348234:p.Glu248Asp	Somatic		WXS	Illumina HiSeq	Phase_IV	B2R8I1|D3DWS2	Missense_Mutation	SNP	pfam_Aminotransferase_I/II,pfam_Tyr_aminoTrfase_ubiquitination,pfam_ArAA_b-elim_lyase/Thr_aldolase,pfam_Aminotrans_V/Cys_dSase,pfam_DegT/StrS_aminotransferase,superfamily_PyrdxlP-dep_Trfase_major_dom,pirsf_Tyrosine_transaminase,tigrfam_Tyrosine_aminoTrfase,tigrfam_TyrNic_aminoTrfase	p.E248D	ENST00000355962.4	37	c.744	CCDS10903.1	16	.	.	.	.	.	.	.	.	.	.	C	20.4	3.980954	0.74474	.	.	ENSG00000198650	ENST00000355962	D	0.90788	-2.73	5.63	3.68	0.42216	Tyrosine aminotransferase (1);Aminotransferase, class I/classII (1);Tyrosine/nicotianamine aminotransferase (1);Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.000000	0.85682	D	0.000000	D	0.96586	0.8886	H	0.96662	3.86	0.80722	D	1	D	0.89917	1.0	D	0.75020	0.985	D	0.96668	0.9494	10	0.87932	D	0	-22.2692	12.3701	0.55250	0.0:0.8627:0.0:0.1373	.	248	P17735	ATTY_HUMAN	D	248	ENSP00000348234:E248D	ENSP00000348234:E248D	E	-	3	2	TAT	70163025	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	1.237000	0.32695	0.740000	0.32651	-0.142000	0.14014	GAG	TAT	-	pfam_Aminotransferase_I/II,superfamily_PyrdxlP-dep_Trfase_major_dom,pirsf_Tyrosine_transaminase,tigrfam_Tyrosine_aminoTrfase,tigrfam_TyrNic_aminoTrfase		0.363	TAT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TAT	HGNC	protein_coding	OTTHUMT00000268989.1	C			71605524	-1	no_errors	ENST00000355962	ensembl	human	known	70_37	missense	SNP	1.000	G
TEX10	54881	genome.wustl.edu	37	9	103109670	103109670	+	Missense_Mutation	SNP	G	G	A			TCGA-DR-A0ZL-01A-11D-A10S-08	TCGA-DR-A0ZL-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e88a707-20f2-4cee-a1f4-21dd68ea49b8	3dc49f42-9237-4a15-8ff4-f6ec60a70467	g.chr9:103109670G>A	ENST00000374902.4	-	3	375	c.199C>T	c.(199-201)Cat>Tat	p.H67Y	TEX10_ENST00000537512.1_Missense_Mutation_p.H2Y|TEX10_ENST00000535814.1_Missense_Mutation_p.H70Y	NM_017746.3	NP_060216.2	Q9NXF1	TEX10_HUMAN	testis expressed 10	67						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|MLL1 complex (GO:0071339)		p.H67Y(1)		NS(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(14)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	38		Acute lymphoblastic leukemia(62;0.0527)		OV - Ovarian serous cystadenocarcinoma(323;0.157)		TTGTAGTGATGCATCTGTGAC	0.313																																																	1	Substitution - Missense(1)	cervix(1)											86.0	94.0	91.0					9																	103109670		2200	4293	6493	SO:0001583	missense	54881			AB060968	CCDS6748.1, CCDS55330.1	9q31.1	2012-05-02	2007-03-13		ENSG00000136891	ENSG00000136891			25988	protein-coding gene	gene with protein product			"""testis expressed gene 10"", ""testis expressed sequence 10"""			12477932	Standard	NM_017746		Approved	FLJ20287, bA208F1.2, Ipi1	uc004bas.3	Q9NXF1	OTTHUMG00000020366	ENST00000374902.4:c.199C>T	9.37:g.103109670G>A	ENSP00000364037:p.His67Tyr	Somatic		WXS	Illumina HiSeq	Phase_IV	B4DYV2|Q5T722|Q5T723|Q8NCN8|Q8TDY0	Missense_Mutation	SNP	pfam_IPI1-like_dom,superfamily_ARM-type_fold,pfscan_HEAT_type_2	p.H67Y	ENST00000374902.4	37	c.199	CCDS6748.1	9	.	.	.	.	.	.	.	.	.	.	G	17.89	3.499931	0.64298	.	.	ENSG00000136891	ENST00000535814;ENST00000374902;ENST00000444730;ENST00000537512	T;T;T	0.64438	-0.1;-0.1;-0.1	5.63	5.63	0.86233	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.76300	0.3968	M	0.73598	2.24	0.80722	D	1	D;B;D;B	0.65815	0.991;0.001;0.995;0.001	P;B;P;B	0.60541	0.69;0.003;0.876;0.002	T	0.78142	-0.2319	10	0.59425	D	0.04	-10.1833	15.3009	0.73949	0.0:0.0:0.8595:0.1405	.	2;70;67;67	B7Z9D5;B4DYV2;B4DQR0;Q9NXF1	.;.;.;TEX10_HUMAN	Y	70;67;67;2	ENSP00000444555:H70Y;ENSP00000364037:H67Y;ENSP00000438120:H2Y	ENSP00000364037:H67Y	H	-	1	0	TEX10	102149491	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.743000	0.85020	2.636000	0.89361	0.655000	0.94253	CAT	TEX10	-	superfamily_ARM-type_fold		0.313	TEX10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	TEX10	HGNC	protein_coding	OTTHUMT00000053416.1	G	NM_017746		103109670	-1	no_errors	ENST00000374902	ensembl	human	known	70_37	missense	SNP	1.000	A
TEX2	55852	genome.wustl.edu	37	17	62290374	62290374	+	Silent	SNP	G	G	A			TCGA-DR-A0ZL-01A-11D-A10S-08	TCGA-DR-A0ZL-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e88a707-20f2-4cee-a1f4-21dd68ea49b8	3dc49f42-9237-4a15-8ff4-f6ec60a70467	g.chr17:62290374G>A	ENST00000583097.1	-	2	1376	c.1204C>T	c.(1204-1206)Ctg>Ttg	p.L402L	TEX2_ENST00000584379.1_Silent_p.L402L|TEX2_ENST00000258991.3_Silent_p.L402L			Q8IWB9	TEX2_HUMAN	testis expressed 2	402					signal transduction (GO:0007165)|sphingolipid metabolic process (GO:0006665)	integral component of membrane (GO:0016021)		p.L402L(1)		breast(3)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(15)|ovary(1)|pancreas(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	41			BRCA - Breast invasive adenocarcinoma(8;1.33e-10)	READ - Rectum adenocarcinoma(1115;0.0689)		CATTTCTCCAGAACTAGAGAA	0.463																																																	1	Substitution - coding silent(1)	cervix(1)											94.0	97.0	96.0					17																	62290374		2203	4300	6503	SO:0001819	synonymous_variant	55852			AB051525	CCDS11658.1, CCDS74131.1	17q23.3	2007-03-13	2007-03-13			ENSG00000136478			30884	protein-coding gene	gene with protein product	"""transmembrane protein 96"""		"""testis expressed sequence 2"""			11214970	Standard	XM_005257507		Approved	HT008, TMEM96, KIAA1738	uc002jee.3	Q8IWB9		ENST00000583097.1:c.1204C>T	17.37:g.62290374G>A		Somatic		WXS	Illumina HiSeq	Phase_IV	Q6AHZ5|Q8N3L0|Q9C0C5	Silent	SNP	pfam_DUF2404	p.L402	ENST00000583097.1	37	c.1204		17																																																																																			TEX2	-	NULL		0.463	TEX2-003	KNOWN	alternative_5_UTR|basic|appris_candidate	protein_coding	TEX2	HGNC	protein_coding	OTTHUMT00000443745.1	G	NM_018469		62290374	-1	no_errors	ENST00000258991	ensembl	human	known	70_37	silent	SNP	0.997	A
TIE1	7075	genome.wustl.edu	37	1	43779034	43779034	+	Missense_Mutation	SNP	G	G	A			TCGA-DR-A0ZL-01A-11D-A10S-08	TCGA-DR-A0ZL-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e88a707-20f2-4cee-a1f4-21dd68ea49b8	3dc49f42-9237-4a15-8ff4-f6ec60a70467	g.chr1:43779034G>A	ENST00000372476.3	+	13	2235	c.2156G>A	c.(2155-2157)cGg>cAg	p.R719Q	TIE1_ENST00000473014.1_3'UTR|TIE1_ENST00000433781.2_Missense_Mutation_p.R364Q	NM_001253357.1|NM_005424.4	NP_001240286.1|NP_005415.1	P35590	TIE1_HUMAN	tyrosine kinase with immunoglobulin-like and EGF-like domains 1	719	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				angiogenesis (GO:0001525)|in utero embryonic development (GO:0001701)|mesoderm development (GO:0007498)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell migration (GO:0030336)|peptidyl-tyrosine phosphorylation (GO:0018108)|plasma membrane fusion (GO:0045026)|response to retinoic acid (GO:0032526)|signal transduction (GO:0007165)|vasculogenesis (GO:0001570)	integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.R719Q(1)		breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(8)|lung(28)|ovary(3)|prostate(2)|salivary_gland(1)|skin(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	70	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0505)				TTCCGCATGCGGGCCAGCATT	0.647																																																	1	Substitution - Missense(1)	cervix(1)											113.0	103.0	106.0					1																	43779034		2203	4300	6503	SO:0001583	missense	7075			BC038239	CCDS482.1	1p34-p33	2013-02-11	2004-12-13	2004-12-14	ENSG00000066056	ENSG00000066056	2.7.10.1	"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	11809	protein-coding gene	gene with protein product		600222	"""tyrosine kinase with immunoglobulin and epidermal growth factor homology domains 1"""	TIE		1312667	Standard	NM_005424		Approved	JTK14	uc001ciu.3	P35590	OTTHUMG00000007282	ENST00000372476.3:c.2156G>A	1.37:g.43779034G>A	ENSP00000361554:p.Arg719Gln	Somatic		WXS	Illumina HiSeq	Phase_IV	B5A949|B5A950	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Fibronectin_type3,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,smart_Ig_sub,smart_EG-like_dom,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_EG-like_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.R719Q	ENST00000372476.3	37	c.2156	CCDS482.1	1	.	.	.	.	.	.	.	.	.	.	G	18.30	3.593865	0.66219	.	.	ENSG00000066056	ENST00000372476;ENST00000372475;ENST00000536913;ENST00000433781	T;T	0.55588	0.51;0.51	5.57	5.57	0.84162	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.36374	N	0.002635	T	0.66906	0.2837	L	0.47716	1.5	0.54753	D	0.999988	D;D;D;D;D	0.89917	0.999;1.0;1.0;0.999;1.0	P;D;D;D;D	0.73380	0.834;0.964;0.98;0.924;0.98	T	0.60561	-0.7239	10	0.27785	T	0.31	.	19.54	0.95270	0.0:0.0:1.0:0.0	.	364;674;719;364;719	E9PG63;B4DTW8;B5A952;B4DKW0;P35590	.;.;.;.;TIE1_HUMAN	Q	719;122;2;364	ENSP00000361554:R719Q;ENSP00000411728:R364Q	ENSP00000361553:R122Q	R	+	2	0	TIE1	43551621	1.000000	0.71417	1.000000	0.80357	0.587000	0.36485	7.644000	0.83416	2.618000	0.88619	0.655000	0.94253	CGG	TIE1	-	pfam_Fibronectin_type3,superfamily_Fibronectin_type3,smart_Fibronectin_type3,pfscan_Fibronectin_type3		0.647	TIE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TIE1	HGNC	protein_coding	OTTHUMT00000019011.1	G	NM_005424		43779034	+1	no_errors	ENST00000372476	ensembl	human	known	70_37	missense	SNP	1.000	A
TRPC3	7222	genome.wustl.edu	37	4	122835998	122835998	+	Silent	SNP	C	C	A			TCGA-DR-A0ZL-01A-11D-A10S-08	TCGA-DR-A0ZL-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e88a707-20f2-4cee-a1f4-21dd68ea49b8	3dc49f42-9237-4a15-8ff4-f6ec60a70467	g.chr4:122835998C>A	ENST00000379645.3	-	4	1351	c.1278G>T	c.(1276-1278)gtG>gtT	p.V426V	TRPC3_ENST00000264811.5_Silent_p.V353V|TRPC3_ENST00000513531.1_Intron	NM_001130698.1	NP_001124170.1	Q13507	TRPC3_HUMAN	transient receptor potential cation channel, subfamily C, member 3	341					axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|phototransduction (GO:0007602)|platelet activation (GO:0030168)|positive regulation of calcium ion transport into cytosol (GO:0010524)|positive regulation of cardiac muscle hypertrophy in response to stress (GO:1903244)|response to ATP (GO:0033198)|response to calcium ion (GO:0051592)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|inositol 1,4,5 trisphosphate binding (GO:0070679)|store-operated calcium channel activity (GO:0015279)	p.V353V(1)		NS(1)|breast(5)|central_nervous_system(3)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(12)|lung(13)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						CCACGACCAGCACAACGAGAC	0.542																																																	1	Substitution - coding silent(1)	cervix(1)											133.0	97.0	109.0					4																	122835998		2203	4300	6503	SO:0001819	synonymous_variant	7222			Y13758	CCDS3725.1, CCDS47130.1	4q27	2011-12-14			ENSG00000138741	ENSG00000138741		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	12335	protein-coding gene	gene with protein product		602345				8646775, 16382100	Standard	NM_003305		Approved		uc003ieg.2	Q13507	OTTHUMG00000133069	ENST00000379645.3:c.1278G>T	4.37:g.122835998C>A		Somatic		WXS	Illumina HiSeq	Phase_IV	A7VJS1|E9PCJ9|O00593|Q15660|Q52M35|Q5G1L5	Silent	SNP	pfam_Ion_trans_dom,pfam_TRP_dom,pfam_PKD1_2_channel,superfamily_Ankyrin_rpt-contain_dom,superfamily_ARM-type_fold,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_TRPC3_channel,prints_TRPC_channel,tigrfam_TRP_channel	p.V426	ENST00000379645.3	37	c.1278	CCDS47130.1	4																																																																																			TRPC3	-	tigrfam_TRP_channel		0.542	TRPC3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TRPC3	HGNC	protein_coding	OTTHUMT00000364252.1	C	NM_003305		122835998	-1	no_errors	ENST00000379645	ensembl	human	known	70_37	silent	SNP	1.000	A
TTN	7273	genome.wustl.edu	37	2	179404687	179404687	+	Missense_Mutation	SNP	G	G	A			TCGA-DR-A0ZL-01A-11D-A10S-08	TCGA-DR-A0ZL-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e88a707-20f2-4cee-a1f4-21dd68ea49b8	3dc49f42-9237-4a15-8ff4-f6ec60a70467	g.chr2:179404687G>A	ENST00000591111.1	-	302	93406	c.93182C>T	c.(93181-93183)cCt>cTt	p.P31061L	TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.P30134L|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000415561.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000588257.1_RNA|RP11-65L3.4_ENST00000604692.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.P32702L|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.P23762L|TTN_ENST00000460472.2_Missense_Mutation_p.P23637L|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.P23829L|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000590807.1_RNA			Q8WZ42	TITIN_HUMAN	titin	31061	Ig-like 139.				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)	p.P30132L(1)|p.P23762L(1)|p.P30134L(1)|p.P23637L(1)|p.P23829L(1)		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)			TTCATAATCAGGATATTCTGG	0.368																																																	5	Substitution - Missense(5)	cervix(5)											83.0	77.0	79.0					2																	179404687		1857	4103	5960	SO:0001583	missense	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.93182C>T	2.37:g.179404687G>A	ENSP00000465570:p.Pro31061Leu	Somatic		WXS	Illumina HiSeq	Phase_IV	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Immunoglobulin,pfam_Ig_V-set,pfam_Titin_Z,pfam_PPAK_motif,pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,superfamily_Fibronectin_type3,superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom,smart_Ig_sub,smart_Ig_sub2,smart_Ig_V-set_subgr,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Fibronectin_type3,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like	p.P30134L	ENST00000591111.1	37	c.90401		2	.	.	.	.	.	.	.	.	.	.	G	20.6	4.013924	0.75161	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;D;T;D	0.89196	-0.8;-2.45;-1.4;-2.48	6.17	6.17	0.99709	Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);	.	.	.	.	D	0.96253	0.8778	M	0.92122	3.275	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.85130	0.997;0.997;0.997;0.997	D	0.96083	0.9055	9	0.87932	D	0	.	20.8794	0.99867	0.0:0.0:1.0:0.0	.	23637;23762;23829;31061	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	L	30134;23637;23829;23762;23634	ENSP00000343764:P30134L;ENSP00000434586:P23637L;ENSP00000340554:P23829L;ENSP00000352154:P23762L	ENSP00000340554:P23829L	P	-	2	0	TTN	179112933	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.869000	0.99810	2.941000	0.99782	0.655000	0.94253	CCT	TTN	-	superfamily_Calpain_domain_III,superfamily_RNaseH-like_dom		0.368	TTN-019	PUTATIVE	basic	protein_coding	TTN	HGNC	protein_coding	OTTHUMT00000460310.1	G	NM_133378		179404687	-1	no_errors	ENST00000342992	ensembl	human	known	70_37	missense	SNP	1.000	A
VWA3A	146177	genome.wustl.edu	37	16	22122307	22122307	+	Silent	SNP	C	C	T			TCGA-DR-A0ZL-01A-11D-A10S-08	TCGA-DR-A0ZL-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e88a707-20f2-4cee-a1f4-21dd68ea49b8	3dc49f42-9237-4a15-8ff4-f6ec60a70467	g.chr16:22122307C>T	ENST00000389398.5	+	8	777	c.681C>T	c.(679-681)agC>agT	p.S227S	VWA3A_ENST00000389397.4_5'UTR	NM_173615.3	NP_775886.3	A6NCI4	VWA3A_HUMAN	von Willebrand factor A domain containing 3A	227						extracellular region (GO:0005576)		p.S227S(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(1)|skin(1)	7				GBM - Glioblastoma multiforme(48;0.0439)		TGGAAGTCAGCGCCTCCACGT	0.522																																																	1	Substitution - coding silent(1)	cervix(1)											58.0	61.0	60.0					16																	22122307		2072	4220	6292	SO:0001819	synonymous_variant	146177			AK128606, AK098260	CCDS45441.1	16p12.1	2008-02-05				ENSG00000175267			27088	protein-coding gene	gene with protein product						12477932	Standard	XM_006721021		Approved	FLJ46765, FLJ40941	uc010vbq.2	A6NCI4		ENST00000389398.5:c.681C>T	16.37:g.22122307C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	A4QMU8|A6NNC0|Q6UTX4|Q6ZQZ9|Q8IUY6|Q8N9W1	Silent	SNP	pfam_VWF_A,smart_VWF_A,pfscan_VWF_A	p.S227	ENST00000389398.5	37	c.681	CCDS45441.1	16																																																																																			VWA3A	-	NULL		0.522	VWA3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VWA3A	HGNC	protein_coding	OTTHUMT00000430052.1	C			22122307	+1	no_errors	ENST00000389398	ensembl	human	known	70_37	silent	SNP	0.035	T
WAC	51322	genome.wustl.edu	37	10	28824542	28824542	+	Missense_Mutation	SNP	G	G	A			TCGA-DR-A0ZL-01A-11D-A10S-08	TCGA-DR-A0ZL-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e88a707-20f2-4cee-a1f4-21dd68ea49b8	3dc49f42-9237-4a15-8ff4-f6ec60a70467	g.chr10:28824542G>A	ENST00000354911.4	+	3	291	c.130G>A	c.(130-132)Gaa>Aaa	p.E44K	WAC_ENST00000375664.4_5'UTR|WAC_ENST00000532233.1_3'UTR|WAC_ENST00000428935.1_5'UTR|WAC_ENST00000375646.1_5'UTR|WAC-AS1_ENST00000527986.1_RNA|WAC_ENST00000347934.4_Missense_Mutation_p.E44K	NM_016628.4	NP_057712.2	Q9BTA9	WAC_HUMAN	WW domain containing adaptor with coiled-coil	44					cellular response to DNA damage stimulus (GO:0006974)|G1 DNA damage checkpoint (GO:0044783)|histone H2B conserved C-terminal lysine ubiquitination (GO:0071894)|histone monoubiquitination (GO:0010390)|negative regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032435)|positive regulation of macroautophagy (GO:0016239)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	chromatin binding (GO:0003682)|RNA polymerase II core binding (GO:0000993)	p.E44K(1)		NS(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|urinary_tract(1)	32						TCACAGACATGAAAAGATGCG	0.433																																																	1	Substitution - Missense(1)	cervix(1)											100.0	103.0	102.0					10																	28824542		2203	4300	6503	SO:0001583	missense	51322			AK055852	CCDS7159.1, CCDS7160.1, CCDS7161.1	10p12.1	2007-05-17	2003-03-19		ENSG00000095787	ENSG00000095787			17327	protein-coding gene	gene with protein product		615049	"""WW domain-containing adaptor with coiled coil"""			11827461	Standard	NR_024557		Approved	Wwp4, FLJ31290, PRO1741, BM-016, MGC10753	uc001iuf.3	Q9BTA9	OTTHUMG00000017872	ENST00000354911.4:c.130G>A	10.37:g.28824542G>A	ENSP00000346986:p.Glu44Lys	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K2A9|C9JBT9|D3DRW5|D3DRW6|D3DRW7|Q53EN9|Q5JU75|Q5JU77|Q5VXK0|Q5VXK2|Q8TCK1|Q96DP3|Q96FW6|Q96JI3	Missense_Mutation	SNP	pfam_WW_Rsp5_WWP,superfamily_WW_Rsp5_WWP,smart_WW_Rsp5_WWP,pfscan_WW_Rsp5_WWP	p.E44K	ENST00000354911.4	37	c.130	CCDS7159.1	10	.	.	.	.	.	.	.	.	.	.	G	22.1	4.239835	0.79912	.	.	ENSG00000095787	ENST00000347934;ENST00000354911	T;T	0.30714	1.52;1.52	4.61	4.61	0.57282	.	0.054782	0.64402	D	0.000001	T	0.29716	0.0742	N	0.19112	0.55	0.80722	D	1	B;D	0.53885	0.361;0.963	B;P	0.50570	0.187;0.644	T	0.03829	-1.1000	10	0.23891	T	0.37	-13.0454	17.4738	0.87655	0.0:0.0:1.0:0.0	.	44;44	Q9BTA9-5;Q9BTA9	.;WAC_HUMAN	K	44	ENSP00000311106:E44K;ENSP00000346986:E44K	ENSP00000311106:E44K	E	+	1	0	WAC	28864548	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.259000	0.95561	2.096000	0.63516	0.563000	0.77884	GAA	WAC	-	NULL		0.433	WAC-017	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	WAC	HGNC	protein_coding	OTTHUMT00000047371.1	G	NM_100264		28824542	+1	no_errors	ENST00000354911	ensembl	human	known	70_37	missense	SNP	1.000	A
WDR60	55112	genome.wustl.edu	37	7	158715181	158715181	+	Missense_Mutation	SNP	T	T	C			TCGA-DR-A0ZL-01A-11D-A10S-08	TCGA-DR-A0ZL-10A-01D-A10S-08	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e88a707-20f2-4cee-a1f4-21dd68ea49b8	3dc49f42-9237-4a15-8ff4-f6ec60a70467	g.chr7:158715181T>C	ENST00000407559.3	+	16	2193	c.2035T>C	c.(2035-2037)Tgt>Cgt	p.C679R		NM_018051.4	NP_060521.4	Q8WVS4	WDR60_HUMAN	WD repeat domain 60	679					cell projection organization (GO:0030030)	cilium (GO:0005929)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)		p.C679R(1)		NS(3)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(4)|lung(16)|ovary(2)	35	Ovarian(565;0.152)	all_cancers(7;1.25e-09)|all_epithelial(9;0.000894)|all_hematologic(28;0.00603)	OV - Ovarian serous cystadenocarcinoma(82;0.00174)	UCEC - Uterine corpus endometrioid carcinoma (81;0.19)|STAD - Stomach adenocarcinoma(7;0.18)		ATACGTCCTCTGTGTGTGGGA	0.542																																																	1	Substitution - Missense(1)	cervix(1)											85.0	84.0	84.0					7																	158715181		2062	4200	6262	SO:0001583	missense	55112				CCDS47757.1	7q36.3	2013-11-15			ENSG00000126870	ENSG00000126870		"""WD repeat domain containing"""	21862	protein-coding gene	gene with protein product		615462				23910462	Standard	NM_018051		Approved	FLJ10300, FAP163	uc003woe.4	Q8WVS4	OTTHUMG00000151443	ENST00000407559.3:c.2035T>C	7.37:g.158715181T>C	ENSP00000384290:p.Cys679Arg	Somatic		WXS	Illumina HiSeq	Phase_IV	Q9NW58	Missense_Mutation	SNP	pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat	p.C679R	ENST00000407559.3	37	c.2035	CCDS47757.1	7	.	.	.	.	.	.	.	.	.	.	T	18.21	3.573232	0.65765	.	.	ENSG00000126870	ENST00000407559	T	0.77489	-1.1	5.27	5.27	0.74061	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	D	0.88540	0.6464	M	0.85197	2.74	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.996;0.999	D	0.90266	0.4304	10	0.87932	D	0	-17.7793	13.1284	0.59368	0.0:0.0:0.0:1.0	.	162;679	A4D230;Q8WVS4	.;WDR60_HUMAN	R	679	ENSP00000384290:C679R	ENSP00000384290:C679R	C	+	1	0	WDR60	158407942	1.000000	0.71417	0.997000	0.53966	0.718000	0.41266	6.163000	0.71880	1.974000	0.57490	0.482000	0.46254	TGT	WDR60	-	superfamily_WD40_repeat_dom		0.542	WDR60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDR60	HGNC	protein_coding	OTTHUMT00000322668.1	T	NM_018051		158715181	+1	no_errors	ENST00000407559	ensembl	human	known	70_37	missense	SNP	1.000	C
WHAMMP3	339005	genome.wustl.edu	37	15	23205108	23205108	+	RNA	SNP	C	C	T			TCGA-DR-A0ZL-01A-11D-A10S-08	TCGA-DR-A0ZL-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e88a707-20f2-4cee-a1f4-21dd68ea49b8	3dc49f42-9237-4a15-8ff4-f6ec60a70467	g.chr15:23205108C>T	ENST00000400153.2	-	0	746					NR_003521.1		Q1A5X7	WHAL1_HUMAN	WAS protein homolog associated with actin, golgi membranes and microtubules pseudogene 3																		GTGGTTGCCACGGTAACTAAT	0.393																																																	0																																												339005			BC048987		15q11.2	2014-03-20	2011-06-24	2011-06-24	ENSG00000187667	ENSG00000276141			27892	pseudogene	pseudogene			"""WAS protein homology region 2 domain containing 1-like 1"", ""WAS protein homolog associated with actin, golgi membranes and microtubules-like 1"", ""WAS protein homolog associated with actin, golgi membranes and microtubules-like 1 (pseudogene)"""	WHDC1L1, WHAMML1		18226259	Standard	NR_003521		Approved		uc001yvg.3	Q1A5X7	OTTHUMG00000171921		15.37:g.23205108C>T		Somatic		WXS	Illumina HiSeq	Phase_IV	Q1A5X8|Q52M16|Q52M18	RNA	SNP	-	NULL	ENST00000400153.2	37	NULL		15																																																																																			WHAMMP3	-	-		0.393	WHAMMP3-001	KNOWN	basic	processed_transcript	WHAMMP3	HGNC	pseudogene	OTTHUMT00000415907.1	C	NR_003521		23205108	-1	no_errors	ENST00000400153	ensembl	human	known	70_37	rna	SNP	1.000	T
ZIC1	7545	genome.wustl.edu	37	3	147128284	147128284	+	Missense_Mutation	SNP	G	G	A			TCGA-DR-A0ZL-01A-11D-A10S-08	TCGA-DR-A0ZL-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e88a707-20f2-4cee-a1f4-21dd68ea49b8	3dc49f42-9237-4a15-8ff4-f6ec60a70467	g.chr3:147128284G>A	ENST00000282928.4	+	1	1114	c.385G>A	c.(385-387)Ggg>Agg	p.G129R		NM_003412.3	NP_003403.2	Q15915	ZIC1_HUMAN	Zic family member 1	129					adult walking behavior (GO:0007628)|brain development (GO:0007420)|cell differentiation (GO:0030154)|inner ear morphogenesis (GO:0042472)|pattern specification process (GO:0007389)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of smoothened signaling pathway (GO:0008589)|spinal cord development (GO:0021510)|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)	p.G129W(1)|p.G129R(1)		central_nervous_system(4)|cervix(1)|endometrium(2)|large_intestine(8)|lung(38)|ovary(1)|prostate(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	63						CGGGGGCTTCGGGGGCCCACA	0.716																																																	2	Substitution - Missense(2)	cervix(1)|lung(1)											11.0	14.0	13.0					3																	147128284		2133	4234	6367	SO:0001583	missense	7545			D76435	CCDS3136.1	3q24	2013-01-08	2011-05-19		ENSG00000152977	ENSG00000152977		"""Zinc fingers, C2H2-type"""	12872	protein-coding gene	gene with protein product		600470	"""Zic family member 1 (odd-paired Drosophila homolog)"", ""Zic family member 1 (odd-paired homolog, Drosophila)"""			8542595	Standard	NM_003412		Approved	ZIC, ZNF201	uc003ewe.3	Q15915	OTTHUMG00000159456	ENST00000282928.4:c.385G>A	3.37:g.147128284G>A	ENSP00000282928:p.Gly129Arg	Somatic		WXS	Illumina HiSeq	Phase_IV	Q2M3N1	Missense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.G129R	ENST00000282928.4	37	c.385	CCDS3136.1	3	.	.	.	.	.	.	.	.	.	.	G	16.02	3.002976	0.54254	.	.	ENSG00000152977	ENST00000282928	T	0.34667	1.35	3.34	3.34	0.38264	.	0.120868	0.53938	D	0.000050	T	0.22126	0.0533	N	0.14661	0.345	0.47476	D	0.999437	B	0.09022	0.002	B	0.08055	0.003	T	0.04946	-1.0916	10	0.22109	T	0.4	.	15.1964	0.73092	0.0:0.0:1.0:0.0	.	129	Q15915	ZIC1_HUMAN	R	129	ENSP00000282928:G129R	ENSP00000282928:G129R	G	+	1	0	ZIC1	148610974	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.517000	0.60503	1.878000	0.54408	0.542000	0.68232	GGG	ZIC1	-	NULL		0.716	ZIC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZIC1	HGNC	protein_coding	OTTHUMT00000355497.1	G	NM_003412		147128284	+1	no_errors	ENST00000282928	ensembl	human	known	70_37	missense	SNP	1.000	A
ZIC3	7547	genome.wustl.edu	37	X	136649493	136649493	+	Nonsense_Mutation	SNP	C	C	T			TCGA-DR-A0ZL-01A-11D-A10S-08	TCGA-DR-A0ZL-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e88a707-20f2-4cee-a1f4-21dd68ea49b8	3dc49f42-9237-4a15-8ff4-f6ec60a70467	g.chrX:136649493C>T	ENST00000287538.5	+	1	1193	c.643C>T	c.(643-645)Cag>Tag	p.Q215*	RP1-137H15.2_ENST00000442841.1_RNA|ZIC3_ENST00000370606.3_Nonsense_Mutation_p.Q215*	NM_003413.3	NP_003404.1	O60481	ZIC3_HUMAN	Zic family member 3	215					anterior/posterior pattern specification (GO:0009952)|cell differentiation (GO:0030154)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of left/right asymmetry in nervous system (GO:0035545)|determination of left/right symmetry (GO:0007368)|determination of liver left/right asymmetry (GO:0071910)|determination of pancreatic left/right asymmetry (GO:0035469)|heart looping (GO:0001947)|lung development (GO:0030324)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.Q215*(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|large_intestine(3)|liver(1)|lung(18)|ovary(3)|soft_tissue(2)|urinary_tract(1)	37	Acute lymphoblastic leukemia(192;0.000127)					GGCCGGCGCTCAGTTTCCTAA	0.657																																																	1	Substitution - Nonsense(1)	cervix(1)											23.0	26.0	25.0					X																	136649493		2175	4242	6417	SO:0001587	stop_gained	7547			AF028706	CCDS14663.1	Xq24-q27.1	2013-01-08	2011-05-19		ENSG00000156925	ENSG00000156925		"""Zinc fingers, C2H2-type"""	12874	protein-coding gene	gene with protein product		300265	"""heterotaxy 1"", ""Zic family member 3 (odd-paired homolog, Drosophila)"""	HTX1		8298651, 7747776	Standard	NM_003413		Approved	HTX, ZNF203	uc004fak.3	O60481	OTTHUMG00000022525	ENST00000287538.5:c.643C>T	X.37:g.136649493C>T	ENSP00000287538:p.Gln215*	Somatic		WXS	Illumina HiSeq	Phase_IV	B2CNW4|Q14DE5|Q5JY75	Nonsense_Mutation	SNP	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.Q215*	ENST00000287538.5	37	c.643	CCDS14663.1	X	.	.	.	.	.	.	.	.	.	.	c	42	9.581104	0.99211	.	.	ENSG00000156925	ENST00000287538;ENST00000370606	.	.	.	4.58	4.58	0.56647	.	0.062182	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.46703	T	0.11	.	15.0189	0.71613	0.0:1.0:0.0:0.0	.	.	.	.	X	215	.	ENSP00000287538:Q215X	Q	+	1	0	ZIC3	136477159	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	5.918000	0.69996	2.100000	0.63781	0.597000	0.82753	CAG	ZIC3	-	NULL		0.657	ZIC3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	ZIC3	HGNC	protein_coding	OTTHUMT00000058526.1	C			136649493	+1	no_errors	ENST00000287538	ensembl	human	known	70_37	nonsense	SNP	1.000	T
ZNF175	7728	genome.wustl.edu	37	19	52084764	52084764	+	Missense_Mutation	SNP	G	G	A	rs376635595		TCGA-DR-A0ZL-01A-11D-A10S-08	TCGA-DR-A0ZL-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e88a707-20f2-4cee-a1f4-21dd68ea49b8	3dc49f42-9237-4a15-8ff4-f6ec60a70467	g.chr19:52084764G>A	ENST00000262259.2	+	3	551	c.193G>A	c.(193-195)Gca>Aca	p.A65T	ZNF175_ENST00000436511.2_Missense_Mutation_p.A65T|ZNF175_ENST00000596504.1_Missense_Mutation_p.A65T	NM_007147.2	NP_009078.1	Q9Y473	ZN175_HUMAN	zinc finger protein 175	65	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				defense response to virus (GO:0051607)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.A65T(1)		NS(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24		all_neural(266;0.0299)		GBM - Glioblastoma multiforme(134;0.000426)|OV - Ovarian serous cystadenocarcinoma(262;0.0257)		CCATCTCTTCGCAGTGGGTGA	0.547																																																	1	Substitution - Missense(1)	cervix(1)											101.0	92.0	95.0					19																	52084764		2203	4300	6503	SO:0001583	missense	7728			D50419	CCDS12837.1	19q13.4	2013-01-08			ENSG00000105497	ENSG00000105497		"""Zinc fingers, C2H2-type"", ""-"""	12964	protein-coding gene	gene with protein product		601139				8838321	Standard	NM_007147		Approved	OTK18	uc002pxb.3	Q9Y473	OTTHUMG00000167771	ENST00000262259.2:c.193G>A	19.37:g.52084764G>A	ENSP00000262259:p.Ala65Thr	Somatic		WXS	Illumina HiSeq	Phase_IV	A8K9H2	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.A65T	ENST00000262259.2	37	c.193	CCDS12837.1	19	.	.	.	.	.	.	.	.	.	.	T	18.64	3.666480	0.67814	.	.	ENSG00000105497	ENST00000262259;ENST00000436511	T;T	0.01787	4.64;4.64	2.47	2.47	0.30058	Krueppel-associated box (4);	.	.	.	.	T	0.01800	0.0057	L	0.31804	0.96	0.09310	N	1	B	0.06786	0.001	B	0.10450	0.005	T	0.45101	-0.9284	9	0.59425	D	0.04	.	7.1487	0.25597	0.0:0.0:0.229:0.7709	.	65	Q9Y473	ZN175_HUMAN	T	65	ENSP00000262259:A65T;ENSP00000440578:A65T	ENSP00000262259:A65T	A	+	1	0	ZNF175	56776576	0.001000	0.12720	0.022000	0.16811	0.810000	0.45777	0.938000	0.28965	0.380000	0.24823	-0.256000	0.11100	GCA	ZNF175	-	pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,pfscan_Krueppel-associated_box		0.547	ZNF175-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF175	HGNC	protein_coding	OTTHUMT00000396205.1	G	NM_007147		52084764	+1	no_errors	ENST00000262259	ensembl	human	known	70_37	missense	SNP	0.091	A
ZNF830	91603	genome.wustl.edu	37	17	33288808	33288808	+	Missense_Mutation	SNP	C	C	T			TCGA-DR-A0ZL-01A-11D-A10S-08	TCGA-DR-A0ZL-10A-01D-A10S-08	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e88a707-20f2-4cee-a1f4-21dd68ea49b8	3dc49f42-9237-4a15-8ff4-f6ec60a70467	g.chr17:33288808C>T	ENST00000361952.3	+	1	260	c.223C>T	c.(223-225)Cac>Tac	p.H75Y	CCT6B_ENST00000314144.5_5'Flank|CCT6B_ENST00000421975.3_5'Flank|CCT6B_ENST00000436961.3_5'Flank	NM_052857.3	NP_443089.3	Q96NB3	ZN830_HUMAN	zinc finger protein 830	75					blastocyst growth (GO:0001832)|mitotic nuclear division (GO:0007067)|nuclear cell cycle DNA replication (GO:0033260)	cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|nucleus (GO:0005634)	metal ion binding (GO:0046872)	p.H75Y(1)		breast(1)|cervix(1)|endometrium(2)|large_intestine(1)|liver(2)|lung(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	13		Ovarian(249;0.17)				GGGAAAGCAGCACCGAGAGAA	0.597																																																	1	Substitution - Missense(1)	cervix(1)											70.0	69.0	70.0					17																	33288808		2203	4300	6503	SO:0001583	missense	91603			AK055707	CCDS32618.1	17q12	2013-10-23	2008-03-25	2008-03-25	ENSG00000198783	ENSG00000198783			28291	protein-coding gene	gene with protein product	"""orphan maintenance of genome 1"""		"""coiled-coil domain containing 16"""	CCDC16		23066043	Standard	NM_052857		Approved	MGC20398, OMCG1	uc002hih.4	Q96NB3	OTTHUMG00000179771	ENST00000361952.3:c.223C>T	17.37:g.33288808C>T	ENSP00000354518:p.His75Tyr	Somatic		WXS	Illumina HiSeq	Phase_IV	Q96F60|Q96GZ5|Q9BU38	Missense_Mutation	SNP	smart_Znf_U1	p.H75Y	ENST00000361952.3	37	c.223	CCDS32618.1	17	.	.	.	.	.	.	.	.	.	.	C	25.7	4.667075	0.88251	.	.	ENSG00000198783	ENST00000361952	D	0.97232	-4.3	5.65	5.65	0.86999	.	0.000000	0.85682	D	0.000000	D	0.97854	0.9295	M	0.83223	2.63	0.51482	D	0.999923	D	0.64830	0.994	P	0.55055	0.767	D	0.98016	1.0368	10	0.87932	D	0	-21.999	15.093	0.72211	0.0:1.0:0.0:0.0	.	75	Q96NB3	ZN830_HUMAN	Y	75	ENSP00000354518:H75Y	ENSP00000354518:H75Y	H	+	1	0	ZNF830	30312921	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.068000	0.71201	2.941000	0.99782	0.655000	0.94253	CAC	ZNF830	-	smart_Znf_U1		0.597	ZNF830-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF830	HGNC	protein_coding	OTTHUMT00000448018.1	C	NM_052857		33288808	+1	no_errors	ENST00000361952	ensembl	human	known	70_37	missense	SNP	1.000	T
ZSWIM4	65249	genome.wustl.edu	37	19	13910663	13910663	+	Missense_Mutation	SNP	G	G	A			TCGA-DR-A0ZL-01A-11D-A10S-08	TCGA-DR-A0ZL-10A-01D-A10S-08	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	6e88a707-20f2-4cee-a1f4-21dd68ea49b8	3dc49f42-9237-4a15-8ff4-f6ec60a70467	g.chr19:13910663G>A	ENST00000254323.2	+	2	472	c.283G>A	c.(283-285)Gat>Aat	p.D95N	CTD-3252C9.2_ENST00000591242.1_RNA	NM_023072.2	NP_075560.2	Q9H7M6	ZSWM4_HUMAN	zinc finger, SWIM-type containing 4	95							zinc ion binding (GO:0008270)	p.D95N(1)		central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	27			OV - Ovarian serous cystadenocarcinoma(19;2.94e-23)|Epithelial(5;4.58e-19)			GGGCGAGCACGATGCCCGGGT	0.637																																																	1	Substitution - Missense(1)	cervix(1)											67.0	63.0	64.0					19																	13910663		2203	4300	6503	SO:0001583	missense	65249			AK022283	CCDS32924.1	19p13.13	2012-02-23			ENSG00000132003	ENSG00000132003		"""Zinc fingers, SWIM-type"""	25704	protein-coding gene	gene with protein product							Standard	NM_023072		Approved	FLJ12221	uc002mxh.1	Q9H7M6		ENST00000254323.2:c.283G>A	19.37:g.13910663G>A	ENSP00000254323:p.Asp95Asn	Somatic		WXS	Illumina HiSeq	Phase_IV		Missense_Mutation	SNP	pfscan_Znf_SWIM	p.D95N	ENST00000254323.2	37	c.283	CCDS32924.1	19	.	.	.	.	.	.	.	.	.	.	G	24.2	4.500903	0.85176	.	.	ENSG00000132003	ENST00000254323	T	0.45276	0.9	4.18	4.18	0.49190	.	.	.	.	.	T	0.44582	0.1300	L	0.44542	1.39	0.80722	D	1	D	0.65815	0.995	P	0.53266	0.722	T	0.22417	-1.0217	9	0.16896	T	0.51	-50.2944	14.0257	0.64584	0.0:0.0:1.0:0.0	.	95	Q9H7M6	ZSWM4_HUMAN	N	95	ENSP00000254323:D95N	ENSP00000254323:D95N	D	+	1	0	ZSWIM4	13771663	0.998000	0.40836	0.797000	0.32132	0.748000	0.42578	4.320000	0.59203	1.878000	0.54408	0.555000	0.69702	GAT	ZSWIM4	-	NULL		0.637	ZSWIM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZSWIM4	HGNC	protein_coding	OTTHUMT00000457457.1	G	XM_031342		13910663	+1	no_errors	ENST00000254323	ensembl	human	known	70_37	missense	SNP	0.992	A
