#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_BAM_File	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_EVS_AA	i_EVS_All	i_EVS_EA	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_Mutation_Status	i_ORegAnno_bin	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_all_domains_WU	i_amino_acid_change_WU	i_annotation_transcript	i_build	i_c_position_WU	i_ccds_id	i_chromosome_name_WU	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_default_gene_name_WU	i_deletion_substructures_WU	i_domain_WU	i_ensembl_gene_id	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_name_WU	i_gene_name_source_WU	i_gene_type	i_havana_transcript	i_normal_ref_reads	i_normal_vaf	i_normal_var_reads	i_reference_WU	i_refseq_mrna_id	i_secondary_variant_classification	i_start_WU	i_stop_WU	i_strand_WU	i_transcript_error_WU	i_transcript_name_WU	i_transcript_source_WU	i_transcript_species_WU	i_transcript_status_WU	i_transcript_version_WU	i_trv_type_WU	i_tumor_ref_reads	i_tumor_vaf	i_tumors_var_reads	i_type_WU	i_ucsc_cons_WU	i_variant_WU
ABCA1	19	genome.wustl.edu	37	9	107568529	107568529	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0HN-01A-11D-A099-09	TCGA-BH-A0HN-10A-01D-A099-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	ada199c5-8015-481f-a46e-46fa42646cd8	c86ec88b-34c5-4b99-a6a7-aa0c4b033684	g.chr9:107568529G>A	ENST00000374736.3	-	31	4851	c.4457C>T	c.(4456-4458)cCt>cTt	p.P1486L		NM_005502.3	NP_005493.2	O95477	ABCA1_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 1	1486					apolipoprotein A-I-mediated signaling pathway (GO:0038027)|cellular lipid metabolic process (GO:0044255)|cellular response to cholesterol (GO:0071397)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to retinoic acid (GO:0071300)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|endosomal transport (GO:0016197)|G-protein coupled receptor signaling pathway (GO:0007186)|high-density lipoprotein particle assembly (GO:0034380)|interleukin-1 beta secretion (GO:0050702)|intracellular cholesterol transport (GO:0032367)|lipoprotein metabolic process (GO:0042157)|lysosome organization (GO:0007040)|negative regulation of cholesterol storage (GO:0010887)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|peptide secretion (GO:0002790)|phagocytosis, engulfment (GO:0006911)|phospholipid efflux (GO:0033700)|phospholipid homeostasis (GO:0055091)|phospholipid translocation (GO:0045332)|platelet dense granule organization (GO:0060155)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cholesterol efflux (GO:0010875)|protein lipidation (GO:0006497)|regulation of Cdc42 protein signal transduction (GO:0032489)|response to drug (GO:0042493)|response to laminar fluid shear stress (GO:0034616)|response to low-density lipoprotein particle (GO:0055098)|response to nutrient (GO:0007584)|reverse cholesterol transport (GO:0043691)|small molecule metabolic process (GO:0044281)	endocytic vesicle (GO:0030139)|external side of plasma membrane (GO:0009897)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)	anion transmembrane transporter activity (GO:0008509)|apolipoprotein A-I binding (GO:0034186)|apolipoprotein A-I receptor activity (GO:0034188)|apolipoprotein binding (GO:0034185)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|ATPase binding (GO:0051117)|cholesterol binding (GO:0015485)|cholesterol transporter activity (GO:0017127)|phospholipid binding (GO:0005543)|phospholipid transporter activity (GO:0005548)|receptor binding (GO:0005102)|small GTPase binding (GO:0031267)|syntaxin binding (GO:0019905)	p.P1486L(1)		NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(31)|liver(1)|lung(40)|ovary(5)|pancreas(2)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	115				OV - Ovarian serous cystadenocarcinoma(323;0.023)	Adenosine triphosphate(DB00171)|Glyburide(DB01016)|Probucol(DB01599)	CACTTGTGGAGGAGGCAGCCC	0.557																																						dbGAP											1	Substitution - Missense(1)	breast(1)											79.0	77.0	78.0					9																	107568529		2203	4300	6503	-	-	-	SO:0001583	missense	0			AJ012376	CCDS6762.1	9q31	2014-03-14			ENSG00000165029	ENSG00000165029		"""ATP binding cassette transporters / subfamily A"""	29	protein-coding gene	gene with protein product	"""Tangier disease"""	600046		ABC1, HDLDT1		8088782, 10431236, 10431237, 10431238	Standard	NM_005502		Approved	TGD	uc004bcl.3	O95477	OTTHUMG00000020417	ENST00000374736.3:c.4457C>T	9.37:g.107568529G>A	ENSP00000363868:p.Pro1486Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5VX33|Q96S56|Q96T85|Q9NQV4|Q9UN06|Q9UN07|Q9UN08|Q9UN09	Missense_Mutation	SNP	pfam_ABC_transporter-like,smart_AAA+_ATPase,pfscan_ABC_transporter-like	p.P1486L	ENST00000374736.3	37	c.4457	CCDS6762.1	9	.	.	.	.	.	.	.	.	.	.	G	32	5.155451	0.94686	.	.	ENSG00000165029	ENST00000374736	D	0.95069	-3.6	5.58	5.58	0.84498	.	0.000000	0.85682	D	0.000000	D	0.97776	0.9270	M	0.89287	3.02	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.97667	1.0164	10	0.54805	T	0.06	.	19.922	0.97089	0.0:0.0:1.0:0.0	.	1486	O95477	ABCA1_HUMAN	L	1486	ENSP00000363868:P1486L	ENSP00000363868:P1486L	P	-	2	0	ABCA1	106608350	1.000000	0.71417	1.000000	0.80357	0.871000	0.50021	8.019000	0.88732	2.780000	0.95670	0.655000	0.94253	CCT	ABCA1	-	NULL	ENSG00000165029		0.557	ABCA1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ABCA1	HGNC	protein_coding	OTTHUMT00000053491.1	79	0.00	0	G	NM_005502		107568529	107568529	-1	no_errors	ENST00000374736	ensembl	human	known	69_37n	missense	17	63.83	30	SNP	1.000	A
AMOTL1	154810	genome.wustl.edu	37	11	94554978	94554978	+	Missense_Mutation	SNP	G	G	T			TCGA-BH-A0HN-01A-11D-A099-09	TCGA-BH-A0HN-10A-01D-A099-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	ada199c5-8015-481f-a46e-46fa42646cd8	c86ec88b-34c5-4b99-a6a7-aa0c4b033684	g.chr11:94554978G>T	ENST00000433060.2	+	4	1545	c.1404G>T	c.(1402-1404)aaG>aaT	p.K468N	AMOTL1_ENST00000539727.1_3'UTR|AMOTL1_ENST00000317829.8_Missense_Mutation_p.K418N|AMOTL1_ENST00000317837.9_Intron	NM_130847.2	NP_570899.1	Q8IY63	AMOL1_HUMAN	angiomotin like 1	468					establishment of cell polarity involved in ameboidal cell migration (GO:0003365)|hippo signaling (GO:0035329)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|Wnt signaling pathway (GO:0016055)	apical plasma membrane (GO:0016324)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|tight junction (GO:0005923)	identical protein binding (GO:0042802)	p.K468N(1)		autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(14)|lung(8)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(2)	36		Acute lymphoblastic leukemia(157;2.38e-05)|all_hematologic(158;0.00824)				ATGCCGACAAGCTCCACAAGG	0.517																																						dbGAP											1	Substitution - Missense(1)	breast(1)											91.0	94.0	93.0					11																	94554978		1994	4165	6159	-	-	-	SO:0001583	missense	0			AF453742	CCDS44712.1, CCDS73368.1	11q21	2008-07-18				ENSG00000166025			17811	protein-coding gene	gene with protein product	"""junction-enriched and associated protein"""	614657				11733531	Standard	XM_005273798		Approved	JEAP	uc001pfb.3	Q8IY63		ENST00000433060.2:c.1404G>T	11.37:g.94554978G>T	ENSP00000387739:p.Lys468Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	Q63HK7|Q8NDN0|Q8TEN8|Q8WXD1|Q96CM5	Missense_Mutation	SNP	pfam_Angiomotin_C,prints_Angiomotin	p.K468N	ENST00000433060.2	37	c.1404	CCDS44712.1	11	.	.	.	.	.	.	.	.	.	.	G	21.7	4.186499	0.78789	.	.	ENSG00000166025	ENST00000317829;ENST00000542840;ENST00000433060	T;T	0.21734	1.99;1.99	5.92	3.77	0.43336	.	0.000000	0.85682	D	0.000000	T	0.37625	0.1010	M	0.76170	2.325	0.80722	D	1	P;P	0.46512	0.86;0.879	P;P	0.54312	0.748;0.628	T	0.26916	-1.0089	10	0.72032	D	0.01	-42.9854	10.8959	0.47023	0.2111:0.0:0.7889:0.0	.	418;468	Q8IY63-2;Q8IY63	.;AMOL1_HUMAN	N	418;474;468	ENSP00000320968:K418N;ENSP00000387739:K468N	ENSP00000320968:K418N	K	+	3	2	AMOTL1	94194626	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	1.248000	0.32827	1.434000	0.47414	0.561000	0.74099	AAG	AMOTL1	-	NULL	ENSG00000166025		0.517	AMOTL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AMOTL1	HGNC	protein_coding	OTTHUMT00000396474.3	52	0.00	0	G	NM_130847		94554978	94554978	+1	no_errors	ENST00000433060	ensembl	human	known	69_37n	missense	8	42.86	6	SNP	1.000	T
ANK2	287	genome.wustl.edu	37	4	114158316	114158316	+	Silent	SNP	C	C	T			TCGA-BH-A0HN-01A-11D-A099-09	TCGA-BH-A0HN-10A-01D-A099-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	ada199c5-8015-481f-a46e-46fa42646cd8	c86ec88b-34c5-4b99-a6a7-aa0c4b033684	g.chr4:114158316C>T	ENST00000357077.4	+	6	710	c.657C>T	c.(655-657)gaC>gaT	p.D219D	ANK2_ENST00000506722.1_Silent_p.D198D|ANK2_ENST00000394537.3_Silent_p.D219D|ANK2_ENST00000264366.6_Silent_p.D219D	NM_001148.4	NP_001139.3	Q01484	ANK2_HUMAN	ankyrin 2, neuronal	219					atrial cardiac muscle cell action potential (GO:0086014)|atrial cardiac muscle cell to AV node cell communication (GO:0086066)|atrial septum development (GO:0003283)|axon guidance (GO:0007411)|cardiac muscle contraction (GO:0060048)|cellular calcium ion homeostasis (GO:0006874)|cellular protein localization (GO:0034613)|membrane depolarization during SA node cell action potential (GO:0086046)|paranodal junction assembly (GO:0030913)|positive regulation of calcium ion transmembrane transporter activity (GO:1901021)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cation channel activity (GO:2001259)|positive regulation of gene expression (GO:0010628)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein localization to cell surface (GO:0034394)|protein localization to endoplasmic reticulum (GO:0070972)|protein localization to M-band (GO:0036309)|protein localization to organelle (GO:0033365)|protein localization to plasma membrane (GO:0072659)|protein localization to T-tubule (GO:0036371)|protein stabilization (GO:0050821)|protein targeting to plasma membrane (GO:0072661)|regulation of calcium ion transmembrane transporter activity (GO:1901019)|regulation of calcium ion transport (GO:0051924)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of cardiac muscle cell membrane potential (GO:0086036)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of protein stability (GO:0031647)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to methylmercury (GO:0051597)|SA node cell action potential (GO:0086015)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|T-tubule organization (GO:0033292)|ventricular cardiac muscle cell action potential (GO:0086005)	A band (GO:0031672)|basolateral plasma membrane (GO:0016323)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|integral component of plasma membrane (GO:0005887)|intercalated disc (GO:0014704)|intracellular (GO:0005622)|M band (GO:0031430)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|potassium channel regulator activity (GO:0015459)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)	p.D219D(1)		NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(54)|liver(2)|lung(112)|ovary(8)|pancreas(1)|prostate(7)|skin(11)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(10)	248		Ovarian(17;0.0448)|Hepatocellular(203;0.218)		OV - Ovarian serous cystadenocarcinoma(123;4.92e-05)		ACAATGCTGACGTACAATCCA	0.488																																						dbGAP											1	Substitution - coding silent(1)	breast(1)											137.0	126.0	130.0					4																	114158316		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			M37123	CCDS3702.1, CCDS43261.1, CCDS54796.1	4q25-q26	2014-09-17	2003-03-12		ENSG00000145362	ENSG00000145362		"""Ankyrin repeat domain containing"""	493	protein-coding gene	gene with protein product		106410	"""long (electrocardiographic) QT syndrome 4"""	LQT4		7485162, 12571597	Standard	NM_001148		Approved		uc003ibe.4	Q01484	OTTHUMG00000132912	ENST00000357077.4:c.657C>T	4.37:g.114158316C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q01485|Q08AC7|Q08AC8|Q7Z3L5	Silent	SNP	pfam_Ankyrin_rpt,pfam_ZU5,pfam_Death,superfamily_Ankyrin_rpt-contain_dom,superfamily_DEATH-like,smart_Ankyrin_rpt,smart_ZU5,smart_Death,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Death,pfscan_ZU5,prints_Ankyrin_rpt	p.D219	ENST00000357077.4	37	c.657	CCDS3702.1	4																																																																																			ANK2	-	superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	ENSG00000145362		0.488	ANK2-001	KNOWN	basic|CCDS	protein_coding	ANK2	HGNC	protein_coding	OTTHUMT00000256422.2	64	0.00	0	C	NM_001148		114158316	114158316	+1	no_errors	ENST00000357077	ensembl	human	known	69_37n	silent	11	63.33	19	SNP	0.994	T
ATP7A	538	genome.wustl.edu	37	X	77268400	77268400	+	Missense_Mutation	SNP	A	A	G			TCGA-BH-A0HN-01A-11D-A099-09	TCGA-BH-A0HN-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	ada199c5-8015-481f-a46e-46fa42646cd8	c86ec88b-34c5-4b99-a6a7-aa0c4b033684	g.chrX:77268400A>G	ENST00000341514.6	+	10	2352	c.2197A>G	c.(2197-2199)Att>Gtt	p.I733V	ATP7A_ENST00000350425.4_Intron|ATP7A_ENST00000343533.5_Intron	NM_000052.5	NP_000043.4	Q04656	ATP7A_HUMAN	ATPase, Cu++ transporting, alpha polypeptide	733					blood vessel development (GO:0001568)|blood vessel remodeling (GO:0001974)|cartilage development (GO:0051216)|catecholamine metabolic process (GO:0006584)|cellular copper ion homeostasis (GO:0006878)|central nervous system neuron development (GO:0021954)|cerebellar Purkinje cell differentiation (GO:0021702)|collagen fibril organization (GO:0030199)|copper ion export (GO:0060003)|copper ion import (GO:0015677)|copper ion transport (GO:0006825)|dendrite morphogenesis (GO:0048813)|detoxification of copper ion (GO:0010273)|dopamine metabolic process (GO:0042417)|elastic fiber assembly (GO:0048251)|elastin biosynthetic process (GO:0051542)|epinephrine metabolic process (GO:0042414)|extracellular matrix organization (GO:0030198)|hair follicle morphogenesis (GO:0031069)|in utero embryonic development (GO:0001701)|ion transmembrane transport (GO:0034220)|lactation (GO:0007595)|locomotory behavior (GO:0007626)|lung alveolus development (GO:0048286)|mitochondrion organization (GO:0007005)|negative regulation of metalloenzyme activity (GO:0048553)|negative regulation of neuron apoptotic process (GO:0043524)|neuron projection morphogenesis (GO:0048812)|norepinephrine biosynthetic process (GO:0042421)|norepinephrine metabolic process (GO:0042415)|peptidyl-lysine modification (GO:0018205)|pigmentation (GO:0043473)|positive regulation of catalytic activity (GO:0043085)|positive regulation of metalloenzyme activity (GO:0048554)|positive regulation of oxidoreductase activity (GO:0051353)|pyramidal neuron development (GO:0021860)|regulation of gene expression (GO:0010468)|regulation of oxidative phosphorylation (GO:0002082)|release of cytochrome c from mitochondria (GO:0001836)|removal of superoxide radicals (GO:0019430)|response to iron(III) ion (GO:0010041)|response to zinc ion (GO:0010043)|serotonin metabolic process (GO:0042428)|skin development (GO:0043588)|T-helper cell differentiation (GO:0042093)|transmembrane transport (GO:0055085)|tryptophan metabolic process (GO:0006568)|tyrosine metabolic process (GO:0006570)	basolateral plasma membrane (GO:0016323)|brush border membrane (GO:0031526)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|membrane (GO:0016020)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|secretory granule (GO:0030141)|trans-Golgi network (GO:0005802)|trans-Golgi network transport vesicle (GO:0030140)	ATP binding (GO:0005524)|copper ion binding (GO:0005507)|copper ion transmembrane transporter activity (GO:0005375)|copper-dependent protein binding (GO:0032767)|copper-exporting ATPase activity (GO:0004008)|superoxide dismutase copper chaperone activity (GO:0016532)	p.I733V(2)		breast(4)|central_nervous_system(3)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(26)|pancreas(1)|prostate(1)|urinary_tract(1)	53					Carboplatin(DB00958)|Cisplatin(DB00515)|Oxaliplatin(DB00526)	GTACTTCTACATTCAGGCTTA	0.338																																						dbGAP											2	Substitution - Missense(2)	breast(2)											157.0	136.0	143.0					X																	77268400		2203	4296	6499	-	-	-	SO:0001583	missense	0			L06133	CCDS35339.1, CCDS75997.1	Xq21.1	2012-10-22	2008-07-31		ENSG00000165240	ENSG00000165240	3.6.3.4	"""ATPases / P-type"""	869	protein-coding gene	gene with protein product	"""copper pump 1"", ""copper-transporting ATPase 1"""	300011	"""Menkes syndrome"""	MNK		10079817	Standard	NM_000052		Approved		uc004ecx.4	Q04656	OTTHUMG00000021885	ENST00000341514.6:c.2197A>G	X.37:g.77268400A>G	ENSP00000345728:p.Ile733Val	Somatic		WXS	Illumina GAIIx	Phase_IV	B1AT72|O00227|O00745|Q9BYY8	Missense_Mutation	SNP	pfam_HeavyMe-assoc_HMA,pfam_ATPase_P-typ_ATPase-assoc-dom,pfam_Dehalogen-like_hydro,pfam_HAD-SF_hydro-like_3,superfamily_HAD-like_dom,superfamily_HeavyMe-assoc_HMA,pfscan_HeavyMe-assoc_HMA,prints_ATPase_P-typ_cat/Cu-transptr,prints_ATPase_P-typ_ion-transptr,prints_ATPase_P-typ_H-transp,prints_HG_scavenger,tigrfam_ATPase_P-typ_heavy-metal,tigrfam_ATPase_P-typ_ion-transptr,tigrfam_HMA_Cu_ion-bd	p.I733V	ENST00000341514.6	37	c.2197	CCDS35339.1	X	.	.	.	.	.	.	.	.	.	.	A	3.159	-0.172543	0.06421	.	.	ENSG00000165240	ENST00000341514	D	0.95238	-3.65	5.64	5.64	0.86602	.	0.193070	0.43416	D	0.000579	D	0.85630	0.5741	N	0.05619	-0.005	0.80722	D	1	B	0.02656	0.0	B	0.08055	0.003	T	0.80812	-0.1215	10	0.02654	T	1	-14.6616	14.8943	0.70633	1.0:0.0:0.0:0.0	.	733	Q04656	ATP7A_HUMAN	V	733	ENSP00000345728:I733V	ENSP00000345728:I733V	I	+	1	0	ATP7A	77155056	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.122000	0.50446	1.900000	0.55004	0.381000	0.24937	ATT	ATP7A	-	prints_ATPase_P-typ_cat/Cu-transptr	ENSG00000165240		0.338	ATP7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ATP7A	HGNC	protein_coding	OTTHUMT00000057306.1	232	0.00	0	A	NM_000052		77268400	77268400	+1	no_errors	ENST00000341514	ensembl	human	known	69_37n	missense	238	22.65	70	SNP	1.000	G
BMP2K	55589	genome.wustl.edu	37	4	79780777	79780777	+	Missense_Mutation	SNP	T	T	C			TCGA-BH-A0HN-01A-11D-A099-09	TCGA-BH-A0HN-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	ada199c5-8015-481f-a46e-46fa42646cd8	c86ec88b-34c5-4b99-a6a7-aa0c4b033684	g.chr4:79780777T>C	ENST00000335016.5	+	8	1089	c.923T>C	c.(922-924)aTa>aCa	p.I308T	BMP2K_ENST00000502871.1_Missense_Mutation_p.I308T	NM_198892.1	NP_942595.1	Q9NSY1	BMP2K_HUMAN	BMP2 inducible kinase	308	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				regulation of bone mineralization (GO:0030500)	nucleus (GO:0005634)	ATP binding (GO:0005524)|phosphatase regulator activity (GO:0019208)|protein serine/threonine kinase activity (GO:0004674)	p.I308T(3)		NS(1)|breast(1)|endometrium(4)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	13						AGACCTGATATATTTCAAGTG	0.323																																						dbGAP											3	Substitution - Missense(3)	breast(3)											88.0	89.0	89.0					4																	79780777		2202	4298	6500	-	-	-	SO:0001583	missense	0			AB015331	CCDS34019.1, CCDS47083.1	4q21.21	2008-05-15			ENSG00000138756	ENSG00000138756			18041	protein-coding gene	gene with protein product							Standard	NM_017593		Approved	DKFZp434K0614, BIKe	uc003hlk.3	Q9NSY1	OTTHUMG00000160900	ENST00000335016.5:c.923T>C	4.37:g.79780777T>C	ENSP00000334836:p.Ile308Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	O94791|Q4W5H2|Q8IYF2|Q8N2G7|Q8NHG9|Q9NTG8	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.I308T	ENST00000335016.5	37	c.923	CCDS47083.1	4	.	.	.	.	.	.	.	.	.	.	T	24.4	4.531497	0.85706	.	.	ENSG00000138756	ENST00000502871;ENST00000335016;ENST00000264889	T;T	0.21031	2.03;2.03	5.73	5.73	0.89815	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.43255	0.1239	L	0.53617	1.68	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.31888	-0.9927	10	0.87932	D	0	-15.9605	15.6614	0.77190	0.0:0.0:0.0:1.0	.	308;308	Q9NSY1;Q4W5H2	BMP2K_HUMAN;.	T	308	ENSP00000421768:I308T;ENSP00000334836:I308T	ENSP00000264889:I308T	I	+	2	0	BMP2K	79999801	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.986000	0.88173	2.173000	0.68751	0.482000	0.46254	ATA	BMP2K	-	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	ENSG00000138756		0.323	BMP2K-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	BMP2K	HGNC	protein_coding		206	0.00	0	T	NM_017593		79780777	79780777	+1	no_errors	ENST00000335016	ensembl	human	known	69_37n	missense	66	35.92	37	SNP	1.000	C
C17orf53	78995	genome.wustl.edu	37	17	42225492	42225492	+	Silent	SNP	C	C	T			TCGA-BH-A0HN-01A-11D-A099-09	TCGA-BH-A0HN-10A-01D-A099-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	ada199c5-8015-481f-a46e-46fa42646cd8	c86ec88b-34c5-4b99-a6a7-aa0c4b033684	g.chr17:42225492C>T	ENST00000319977.4	+	3	558	c.321C>T	c.(319-321)tcC>tcT	p.S107S	C17orf53_ENST00000245382.6_Silent_p.S107S|C17orf53_ENST00000585683.1_Silent_p.S107S	NM_001171251.1|NM_024032.3	NP_001164722.1|NP_076937.2	Q8N3J3	CQ053_HUMAN	chromosome 17 open reading frame 53	107								p.S107S(1)		NS(1)|breast(3)|cervix(1)|kidney(3)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	22		Breast(137;0.0364)|Prostate(33;0.0376)		BRCA - Breast invasive adenocarcinoma(366;0.114)		TCTCTACTTCCAGCAGCTGGA	0.567																																						dbGAP											1	Substitution - coding silent(1)	breast(1)											94.0	93.0	93.0					17																	42225492		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK021656	CCDS11477.1, CCDS59293.1	17q21.31	2012-10-11			ENSG00000125319	ENSG00000125319			28460	protein-coding gene	gene with protein product							Standard	NM_001171251		Approved	MGC3130	uc002ifi.2	Q8N3J3	OTTHUMG00000181808	ENST00000319977.4:c.321C>T	17.37:g.42225492C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K7A9|Q9BWM9|Q9HAI1	Silent	SNP	NULL	p.S107	ENST00000319977.4	37	c.321	CCDS11477.1	17																																																																																			C17orf53	-	NULL	ENSG00000125319		0.567	C17orf53-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	C17orf53	HGNC	protein_coding	OTTHUMT00000457697.1	47	0.00	0	C	NM_024032		42225492	42225492	+1	no_errors	ENST00000319977	ensembl	human	known	69_37n	silent	17	29.17	7	SNP	0.005	T
C4orf36	132989	genome.wustl.edu	37	4	87809322	87809322	+	Missense_Mutation	SNP	G	G	C	rs368817923		TCGA-BH-A0HN-01A-11D-A099-09	TCGA-BH-A0HN-10A-01D-A099-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	ada199c5-8015-481f-a46e-46fa42646cd8	c86ec88b-34c5-4b99-a6a7-aa0c4b033684	g.chr4:87809322G>C	ENST00000473559.1	-	6	835	c.172C>G	c.(172-174)Ctc>Gtc	p.L58V	C4orf36_ENST00000503001.1_5'UTR|C4orf36_ENST00000295898.3_Missense_Mutation_p.L58V			Q96KX1	CD036_HUMAN	chromosome 4 open reading frame 36	58								p.L58V(1)		breast(1)|kidney(1)|lung(1)|prostate(1)	4		Hepatocellular(203;0.114)|all_hematologic(202;0.21)|Acute lymphoblastic leukemia(40;0.242)		OV - Ovarian serous cystadenocarcinoma(123;0.00141)		CATTTTGTGAGCTGCACAGAA	0.398																																						dbGAP											1	Substitution - Missense(1)	breast(1)											95.0	93.0	93.0					4																	87809322		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC016746	CCDS3615.1	4q21.3	2008-02-05			ENSG00000163633	ENSG00000163633			28386	protein-coding gene	gene with protein product						12477932	Standard	NM_144645		Approved	MGC26744	uc003hqe.4	Q96KX1	OTTHUMG00000130597	ENST00000473559.1:c.172C>G	4.37:g.87809322G>C	ENSP00000420949:p.Leu58Val	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	NULL	p.L58V	ENST00000473559.1	37	c.172	CCDS3615.1	4	.	.	.	.	.	.	.	.	.	.	G	15.25	2.776810	0.49786	.	.	ENSG00000163633	ENST00000295898;ENST00000473559;ENST00000506308;ENST00000504008	T;T;T;T	0.42513	0.97;0.97;0.97;0.97	5.13	4.21	0.49690	.	0.282749	0.25798	N	0.028226	T	0.43122	0.1233	L	0.29908	0.895	0.09310	N	1	D	0.56035	0.974	P	0.56612	0.802	T	0.21280	-1.0250	10	0.56958	D	0.05	-10.6691	9.9169	0.41439	0.0:0.0:0.7828:0.2172	.	58	Q96KX1	CD036_HUMAN	V	58	ENSP00000295898:L58V;ENSP00000420949:L58V;ENSP00000421141:L58V;ENSP00000422720:L58V	ENSP00000295898:L58V	L	-	1	0	C4orf36	88028346	0.235000	0.23794	0.175000	0.22980	0.012000	0.07955	2.642000	0.46596	2.659000	0.90383	0.591000	0.81541	CTC	C4orf36	-	NULL	ENSG00000163633		0.398	C4orf36-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	C4orf36	HGNC	protein_coding	OTTHUMT00000253045.2	162	0.00	0	G	NM_144645		87809322	87809322	-1	no_errors	ENST00000295898	ensembl	human	known	69_37n	missense	64	40.19	43	SNP	0.023	C
C7orf57	136288	genome.wustl.edu	37	7	48086112	48086112	+	Missense_Mutation	SNP	C	C	G			TCGA-BH-A0HN-01A-11D-A099-09	TCGA-BH-A0HN-10A-01D-A099-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	ada199c5-8015-481f-a46e-46fa42646cd8	c86ec88b-34c5-4b99-a6a7-aa0c4b033684	g.chr7:48086112C>G	ENST00000348904.3	+	5	618	c.406C>G	c.(406-408)Caa>Gaa	p.Q136E	C7orf57_ENST00000430738.1_Missense_Mutation_p.Q181E|C7orf57_ENST00000435376.1_Missense_Mutation_p.Q14E|C7orf57_ENST00000420324.1_Missense_Mutation_p.Q181E|C7orf57_ENST00000539619.1_Missense_Mutation_p.Q136E	NM_001100159.2	NP_001093629.1	Q8NEG2	CG057_HUMAN	chromosome 7 open reading frame 57	136								p.Q136E(2)		breast(1)|endometrium(2)|large_intestine(1)|lung(4)|ovary(1)	9						TAACCCCGATCAAGCCAATGG	0.478																																						dbGAP											2	Substitution - Missense(2)	breast(2)											64.0	62.0	63.0					7																	48086112		2011	4158	6169	-	-	-	SO:0001583	missense	0			BC031107	CCDS47583.1, CCDS59054.1, CCDS75594.1	7p12.3	2011-11-25			ENSG00000164746	ENSG00000164746			22247	protein-coding gene	gene with protein product							Standard	NM_001100159		Approved		uc003toh.5	Q8NEG2	OTTHUMG00000155808	ENST00000348904.3:c.406C>G	7.37:g.48086112C>G	ENSP00000335500:p.Gln136Glu	Somatic		WXS	Illumina GAIIx	Phase_IV	C9JBJ8	Missense_Mutation	SNP	NULL	p.Q136E	ENST00000348904.3	37	c.406	CCDS47583.1	7	.	.	.	.	.	.	.	.	.	.	C	9.978	1.227339	0.22542	.	.	ENSG00000164746	ENST00000420324;ENST00000435376;ENST00000430738;ENST00000348904;ENST00000539619	T;T;T;T;T	0.45668	0.89;0.89;0.89;0.89;0.89	5.34	5.34	0.76211	.	0.361183	0.28736	N	0.014317	T	0.42539	0.1207	L	0.56769	1.78	0.09310	N	1	B;P	0.35807	0.417;0.522	B;B	0.34824	0.085;0.19	T	0.43032	-0.9416	10	0.44086	T	0.13	-25.8724	16.8864	0.86077	0.0:1.0:0.0:0.0	.	14;136	C9JBJ8;Q8NEG2	.;CG057_HUMAN	E	181;14;181;136;136	ENSP00000394648:Q181E;ENSP00000391652:Q14E;ENSP00000410944:Q181E;ENSP00000335500:Q136E;ENSP00000442474:Q136E	ENSP00000335500:Q136E	Q	+	1	0	C7orf57	48052637	0.022000	0.18835	0.005000	0.12908	0.061000	0.15899	3.139000	0.50577	2.643000	0.89663	0.655000	0.94253	CAA	C7orf57	-	NULL	ENSG00000164746		0.478	C7orf57-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	C7orf57	HGNC	protein_coding	OTTHUMT00000341745.1	76	0.00	0	C	NM_001100159		48086112	48086112	+1	no_errors	ENST00000348904	ensembl	human	known	69_37n	missense	28	58.82	40	SNP	0.024	G
CARNS1	57571	genome.wustl.edu	37	11	67187071	67187073	+	In_Frame_Del	DEL	GGA	GGA	-	rs370760192		TCGA-BH-A0HN-01A-11D-A099-09	TCGA-BH-A0HN-10A-01D-A099-09	GGA	GGA					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	ada199c5-8015-481f-a46e-46fa42646cd8	c86ec88b-34c5-4b99-a6a7-aa0c4b033684	g.chr11:67187071_67187073delGGA	ENST00000307823.3	+	5	1049_1051	c.597_599delGGA	c.(595-600)ctggag>ctg	p.E203del	CARNS1_ENST00000423745.2_In_Frame_Del_p.E203del|CARNS1_ENST00000445895.2_In_Frame_Del_p.E326del|CARNS1_ENST00000531040.1_In_Frame_Del_p.E326del	NM_020811.1	NP_065862.1	A5YM72	CRNS1_HUMAN	carnosine synthase 1	203					ATP catabolic process (GO:0006200)|carnosine biosynthetic process (GO:0035499)		ATP binding (GO:0005524)|ATPase activity (GO:0016887)|carnosine synthase activity (GO:0047730)|metal ion binding (GO:0046872)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(7)	11						TGGAGAAGCTGGAGGAGGAGGAG	0.675																																						dbGAP											0									,	11,4107		3,5,2051					,	5.3	1.0			45	35,8093		4,27,4033	no	coding,coding	CARNS1	NM_020811.1,NM_001166222.1	,	7,32,6084	A1A1,A1R,RR		0.4306,0.2671,0.3756	,	,		46,12200				-	-	-	SO:0001651	inframe_deletion	0				CCDS44658.1, CCDS53667.1	11q13.1	2010-03-25	2010-03-25	2010-03-25	ENSG00000172508	ENSG00000172508			29268	protein-coding gene	gene with protein product		613368	"""ATP-grasp domain containing 1"""	ATPGD1		20097752	Standard	NM_020811		Approved	KIAA1394	uc010rpr.2	A5YM72		ENST00000307823.3:c.597_599delGGA	11.37:g.67187080_67187082delGGA	ENSP00000308268:p.Glu203del	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K1M3|B4DFC6|E9PK38|F5H427|Q8N467|Q9P2F3	In_Frame_Del	DEL	superfamily_PreATP-grasp_fold,superfamily_TIL_dom,pfscan_ATP-grasp	p.E326in_frame_del	ENST00000307823.3	37	c.966_968	CCDS44658.1	11																																																																																			CARNS1	-	NULL	ENSG00000172508		0.675	CARNS1-001	KNOWN	basic|CCDS	protein_coding	CARNS1	HGNC	protein_coding	OTTHUMT00000395501.1	48	0.00	0	GGA	NM_020811		67187071	67187073	+1	no_errors	ENST00000445895	ensembl	human	known	69_37n	in_frame_del	13	13.33	2	DEL	1.000:1.000:1.000	-
COL16A1	1307	genome.wustl.edu	37	1	32124115	32124115	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0HN-01A-11D-A099-09	TCGA-BH-A0HN-10A-01D-A099-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	ada199c5-8015-481f-a46e-46fa42646cd8	c86ec88b-34c5-4b99-a6a7-aa0c4b033684	g.chr1:32124115C>T	ENST00000373672.3	-	64	4510	c.3994G>A	c.(3994-3996)Ggc>Agc	p.G1332S	RP11-73M7.6_ENST00000609373.1_RNA|RP11-73M7.6_ENST00000609033.1_RNA|RP11-73M7.6_ENST00000587445.1_RNA|RP11-73M7.6_ENST00000591929.1_RNA|RP11-73M7.6_ENST00000591592.1_RNA|RP11-73M7.6_ENST00000608246.1_RNA|RP11-73M7.6_ENST00000445166.1_RNA|RP11-73M7.6_ENST00000609549.1_RNA|COL16A1_ENST00000461217.1_5'Flank|RP11-73M7.6_ENST00000585413.1_RNA|RP11-73M7.6_ENST00000608888.1_RNA|RP11-73M7.6_ENST00000593188.1_RNA|RP11-73M7.6_ENST00000589462.1_RNA|RP11-73M7.6_ENST00000609625.1_RNA|RP11-73M7.6_ENST00000610216.1_RNA|RP11-73M7.6_ENST00000610043.1_RNA|RP11-73M7.6_ENST00000607926.1_RNA|RP11-73M7.6_ENST00000608332.1_RNA|COL16A1_ENST00000271069.6_Missense_Mutation_p.G1332S|RP11-73M7.6_ENST00000588288.1_RNA|RP11-73M7.6_ENST00000585660.1_RNA|RP11-73M7.6_ENST00000609338.1_RNA	NM_001856.3	NP_001847.3	Q07092	COGA1_HUMAN	collagen, type XVI, alpha 1	1332	Triple-helical region 2 (COL2) with 2 imperfections.				cell adhesion (GO:0007155)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|female pregnancy (GO:0007565)|integrin-mediated signaling pathway (GO:0007229)	collagen type XVI trimer (GO:0005597)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	integrin binding (GO:0005178)	p.G1332S(1)		breast(4)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(15)|ovary(8)|prostate(4)	48		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0423)|all_neural(195;0.0837)|Breast(348;0.116)		STAD - Stomach adenocarcinoma(196;0.059)		CCAGGGGGGCCGGGCTGGCCT	0.612																																					Colon(143;498 1786 21362 25193 36625)	dbGAP											1	Substitution - Missense(1)	breast(1)											12.0	15.0	14.0					1																	32124115		1864	4091	5955	-	-	-	SO:0001583	missense	0			M92642	CCDS41297.1	1p35-p34	2013-01-16			ENSG00000084636	ENSG00000084636		"""Collagens"""	2193	protein-coding gene	gene with protein product		120326				1631157	Standard	NM_001856		Approved		uc001btk.1	Q07092	OTTHUMG00000003883	ENST00000373672.3:c.3994G>A	1.37:g.32124115C>T	ENSP00000362776:p.Gly1332Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	Q16593|Q59F89|Q71RG9	Missense_Mutation	SNP	pfam_Collagen,superfamily_ConA-like_lec_gl,smart_Laminin_G	p.G1332S	ENST00000373672.3	37	c.3994	CCDS41297.1	1	.	.	.	.	.	.	.	.	.	.	C	23.1	4.376554	0.82682	.	.	ENSG00000084636	ENST00000373672;ENST00000271069;ENST00000440437	D;D;D	0.99607	-6.27;-6.27;-6.09	4.72	4.72	0.59763	.	0.064534	0.64402	D	0.000010	D	0.99778	0.9908	H	0.96943	3.91	0.53688	D	0.999978	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	D	0.96878	0.9644	10	0.87932	D	0	.	16.8521	0.85996	0.0:1.0:0.0:0.0	.	1332;1330	Q07092;Q07092-2	COGA1_HUMAN;.	S	1332;1332;189	ENSP00000362776:G1332S;ENSP00000271069:G1332S;ENSP00000390281:G189S	ENSP00000271069:G1332S	G	-	1	0	COL16A1	31896702	1.000000	0.71417	0.971000	0.41717	0.988000	0.76386	6.492000	0.73654	2.321000	0.78463	0.655000	0.94253	GGC	COL16A1	-	NULL	ENSG00000084636		0.612	COL16A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL16A1	HGNC	protein_coding	OTTHUMT00000011057.2	18	0.00	0	C	NM_001856		32124115	32124115	-1	no_errors	ENST00000271069	ensembl	human	known	69_37n	missense	6	50.00	6	SNP	1.000	T
DLG5	9231	genome.wustl.edu	37	10	79567705	79567705	+	Intron	SNP	G	G	A			TCGA-BH-A0HN-01A-11D-A099-09	TCGA-BH-A0HN-10A-01D-A099-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	ada199c5-8015-481f-a46e-46fa42646cd8	c86ec88b-34c5-4b99-a6a7-aa0c4b033684	g.chr10:79567705G>A	ENST00000372391.2	-	25	4653				DLG5_ENST00000459739.1_Intron|DLG5_ENST00000372388.2_Intron	NM_004747.3	NP_004738.3	Q8TDM6	DLG5_HUMAN	discs, large homolog 5 (Drosophila)						apical protein localization (GO:0045176)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment or maintenance of epithelial cell apical/basal polarity (GO:0045197)|intracellular signal transduction (GO:0035556)|metanephric collecting duct development (GO:0072205)|midbrain development (GO:0030901)|negative regulation of cell proliferation (GO:0008285)|polarized epithelial cell differentiation (GO:0030859)|protein complex assembly (GO:0006461)|protein localization to adherens junction (GO:0071896)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|zonula adherens assembly (GO:0045186)	cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|cytoskeletal protein binding (GO:0008092)|receptor signaling complex scaffold activity (GO:0030159)			breast(9)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(17)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	60	all_cancers(46;0.0316)|all_epithelial(25;0.00147)|Breast(12;0.0015)|Prostate(51;0.0146)		Epithelial(14;0.00105)|OV - Ovarian serous cystadenocarcinoma(4;0.00151)|all cancers(16;0.00446)			CTGCCATACTGCCAGGGATGG	0.612																																						dbGAP											0													58.0	46.0	50.0					10																	79567705		2203	4300	6503	-	-	-	SO:0001627	intron_variant	0			U61843	CCDS7353.2	10q23	2008-07-09	2001-11-28		ENSG00000151208	ENSG00000151208			2904	protein-coding gene	gene with protein product		604090	"""discs, large (Drosophila) homolog 5"""			9738934	Standard	XM_005270276		Approved	P-dlg, KIAA0583	uc001jzk.3	Q8TDM6	OTTHUMG00000018548	ENST00000372391.2:c.4648-3C>T	10.37:g.79567705G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A6H8Y3|Q149N1|Q5T1H7|Q5T1H8|Q6DKG3|Q86WC0|Q8TDM7|Q9UE73|Q9Y4E3	RNA	SNP	-	NULL	ENST00000372391.2	37	NULL	CCDS7353.2	10																																																																																			DLG5	-	-	ENSG00000151208		0.612	DLG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DLG5	HGNC	protein_coding	OTTHUMT00000048900.2	35	0.00	0	G			79567705	79567705	-1	no_errors	ENST00000484525	ensembl	human	known	69_37n	rna	6	53.85	7	SNP	0.941	A
GIPC3	126326	genome.wustl.edu	37	19	3586586	3586586	+	Nonsense_Mutation	SNP	C	C	T	rs138707041	byFrequency	TCGA-BH-A0HN-01A-11D-A099-09	TCGA-BH-A0HN-10A-01D-A099-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	ada199c5-8015-481f-a46e-46fa42646cd8	c86ec88b-34c5-4b99-a6a7-aa0c4b033684	g.chr19:3586586C>T	ENST00000322315.5	+	2	364	c.319C>T	c.(319-321)Cga>Tga	p.R107*		NM_133261.2	NP_573568.1	Q8TF64	GIPC3_HUMAN	GIPC PDZ domain containing family, member 3	107								p.R107*(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)	10				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0025)|STAD - Stomach adenocarcinoma(1328;0.18)		TGCCCACGTGCGAGGCGAGAC	0.582											OREG0025154	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											1	Substitution - Nonsense(1)	breast(1)											112.0	107.0	109.0					19																	3586586		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AB073738	CCDS32871.1	19p13.3	2011-11-29				ENSG00000179855			18183	protein-coding gene	gene with protein product		608792	"""chromosome 19 open reading frame 64"", ""deafness, autosomal recessive 72"", ""deafness, autosomal recessive 15"""	C19orf64, DFNB72, DFNB15		11836571, 21326233	Standard	NM_133261		Approved	DFNB95	uc002lyd.4	Q8TF64		ENST00000322315.5:c.319C>T	19.37:g.3586586C>T	ENSP00000319254:p.Arg107*	Somatic	612	WXS	Illumina GAIIx	Phase_IV	O75227	Nonsense_Mutation	SNP	pfam_PDZ,superfamily_PDZ,smart_PDZ,pirsf_UCP038083_PDZ,pfscan_PDZ	p.R107*	ENST00000322315.5	37	c.319	CCDS32871.1	19	.	.	.	.	.	.	.	.	.	.	C	34	5.375403	0.95923	.	.	ENSG00000179855	ENST00000322315	.	.	.	3.49	3.49	0.39957	.	0.057123	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.25751	T	0.34	-23.8815	9.3687	0.38241	0.2137:0.7863:0.0:0.0	.	.	.	.	X	107	.	ENSP00000319254:R107X	R	+	1	2	GIPC3	3537586	0.994000	0.37717	0.988000	0.46212	0.861000	0.49209	1.398000	0.34554	1.791000	0.52520	0.561000	0.74099	CGA	GIPC3	-	superfamily_PDZ,pirsf_UCP038083_PDZ	ENSG00000179855		0.582	GIPC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GIPC3	HGNC	protein_coding	OTTHUMT00000394577.1	43	0.00	0	C	NM_133261		3586586	3586586	+1	no_errors	ENST00000322315	ensembl	human	known	69_37n	nonsense	19	42.42	14	SNP	0.990	T
GLB1L3	112937	genome.wustl.edu	37	11	134147635	134147635	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0HN-01A-11D-A099-09	TCGA-BH-A0HN-10A-01D-A099-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	ada199c5-8015-481f-a46e-46fa42646cd8	c86ec88b-34c5-4b99-a6a7-aa0c4b033684	g.chr11:134147635G>A	ENST00000431683.2	+	3	191	c.191G>A	c.(190-192)cGa>cAa	p.R64Q	GLB1L3_ENST00000389887.5_Missense_Mutation_p.R64Q	NM_001080407.2	NP_001073876.2	Q8NCI6	GLBL3_HUMAN	galactosidase, beta 1-like 3	64					carbohydrate metabolic process (GO:0005975)		beta-galactosidase activity (GO:0004565)	p.R64Q(1)		endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|pancreas(1)	13	all_hematologic(175;0.127)	all_cancers(12;5.52e-23)|all_epithelial(12;2.15e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000162)|all_neural(223;0.0182)|Medulloblastoma(222;0.0208)|Esophageal squamous(93;0.0559)		Epithelial(10;1.3e-11)|all cancers(11;2.07e-10)|BRCA - Breast invasive adenocarcinoma(10;3.09e-10)|OV - Ovarian serous cystadenocarcinoma(99;0.000873)|Lung(977;0.222)		CTGAAGAATCGATCTGTGGGA	0.557																																						dbGAP											1	Substitution - Missense(1)	breast(1)											36.0	39.0	38.0					11																	134147635		2176	4286	6462	-	-	-	SO:0001583	missense	0				CCDS44780.1	11q25	2008-11-06	2008-01-29		ENSG00000166105	ENSG00000166105			25147	protein-coding gene	gene with protein product						12477932	Standard	NM_001080407		Approved	FLJ90231	uc009zdf.3	Q8NCI6	OTTHUMG00000133524	ENST00000431683.2:c.191G>A	11.37:g.134147635G>A	ENSP00000396615:p.Arg64Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NEM0|A6NN15|Q6P3S3|Q96FF8	Missense_Mutation	SNP	pfam_Glycoside_Hdrlase_35,pfam_Glyco_hydro_42_N,superfamily_Glycoside_hydrolase_SF,superfamily_Galactose-bd-like,prints_Glycoside_Hdrlase_35	p.R64Q	ENST00000431683.2	37	c.191	CCDS44780.1	11	.	.	.	.	.	.	.	.	.	.	G	23.6	4.434354	0.83776	.	.	ENSG00000166105	ENST00000389887;ENST00000431683	D;D	0.97378	-4.27;-4.36	5.06	4.14	0.48551	.	.	.	.	.	D	0.94761	0.8309	N	0.08118	0	0.09310	N	1	D;D	0.69078	0.997;0.977	P;P	0.58331	0.837;0.481	D	0.88118	0.2830	9	0.54805	T	0.06	.	11.143	0.48413	0.0903:0.0:0.9097:0.0	.	64;64	Q8NCI6-4;Q8NCI6	.;GLBL3_HUMAN	Q	64	ENSP00000374537:R64Q;ENSP00000396615:R64Q	ENSP00000374537:R64Q	R	+	2	0	GLB1L3	133652845	0.717000	0.27966	0.011000	0.14972	0.006000	0.05464	5.047000	0.64232	2.808000	0.96608	0.585000	0.79938	CGA	GLB1L3	-	NULL	ENSG00000166105		0.557	GLB1L3-007	KNOWN	basic|appris_principal|CCDS	protein_coding	GLB1L3	HGNC	protein_coding	OTTHUMT00000393625.1	112	0.00	0	G	NM_138416		134147635	134147635	+1	no_errors	ENST00000431683	ensembl	human	known	69_37n	missense	4	92.65	63	SNP	0.011	A
GNB1	2782	genome.wustl.edu	37	1	1720602	1720602	+	Missense_Mutation	SNP	A	A	G			TCGA-BH-A0HN-01A-11D-A099-09	TCGA-BH-A0HN-10A-01D-A099-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	ada199c5-8015-481f-a46e-46fa42646cd8	c86ec88b-34c5-4b99-a6a7-aa0c4b033684	g.chr1:1720602A>G	ENST00000378609.4	-	10	1137	c.806T>C	c.(805-807)aTc>aCc	p.I269T		NM_001282539.1|NM_002074.3	NP_001269468.1|NP_002065.1	P62873	GBB1_HUMAN	guanine nucleotide binding protein (G protein), beta polypeptide 1	269					adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|blood coagulation (GO:0007596)|cellular response to catecholamine stimulus (GO:0071870)|cellular response to glucagon stimulus (GO:0071377)|cellular response to prostaglandin E stimulus (GO:0071380)|energy reserve metabolic process (GO:0006112)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|GTP catabolic process (GO:0006184)|phototransduction, visible light (GO:0007603)|platelet activation (GO:0030168)|Ras protein signal transduction (GO:0007265)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|intracellular (GO:0005622)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|photoreceptor disc membrane (GO:0097381)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	GTPase activity (GO:0003924)|GTPase binding (GO:0051020)|protein complex binding (GO:0032403)|signal transducer activity (GO:0004871)	p.I269T(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(3)|skin(1)	12	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;5.62e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;1.14e-35)|OV - Ovarian serous cystadenocarcinoma(86;7.31e-23)|GBM - Glioblastoma multiforme(42;3.1e-07)|COAD - Colon adenocarcinoma(227;0.000323)|Colorectal(212;0.000374)|Kidney(185;0.00392)|BRCA - Breast invasive adenocarcinoma(365;0.00573)|STAD - Stomach adenocarcinoma(132;0.0072)|KIRC - Kidney renal clear cell carcinoma(229;0.0482)|Lung(427;0.236)		CCCGCAGATGATGTTGTCATG	0.562											OREG0012998	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											1	Substitution - Missense(1)	breast(1)											111.0	102.0	105.0					1																	1720602		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC004186	CCDS34.1, CCDS72685.1	1p36.33	2013-01-10			ENSG00000078369	ENSG00000078369		"""WD repeat domain containing"""	4396	protein-coding gene	gene with protein product		139380					Standard	NM_002074		Approved		uc001aif.3	P62873	OTTHUMG00000000940	ENST00000378609.4:c.806T>C	1.37:g.1720602A>G	ENSP00000367872:p.Ile269Thr	Somatic	598	WXS	Illumina GAIIx	Phase_IV	B1AJZ7|P04697|P04901|Q1RMY8	Missense_Mutation	SNP	pirsf_Guanine_nucleotide-bd_bsu,pfam_WD40_repeat,superfamily_WD40_repeat_dom,smart_WD40_repeat,prints_Gprotein_B,prints_G-protein_beta_WD-40_rep,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.I269T	ENST00000378609.4	37	c.806	CCDS34.1	1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	26.9|26.9	4.778369|4.778369	0.90195|0.90195	.|.	.|.	ENSG00000078369|ENSG00000078369	ENST00000378609;ENST00000455156;ENST00000378606|ENST00000424622	T|.	0.01287|.	5.05|.	5.36|5.36	5.36|5.36	0.76844|0.76844	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);|.	0.045573|.	0.85682|.	D|.	0.000000|.	T|T	0.75287|0.75287	0.3829|0.3829	M|M	0.79011|0.79011	2.435|2.435	0.80722|0.80722	D|D	1|1	D|.	0.64830|.	0.994|.	D|.	0.76575|.	0.988|.	T|T	0.76743|0.76743	-0.2847|-0.2847	10|5	0.22109|.	T|.	0.4|.	-8.821|-8.821	14.5416|14.5416	0.67999|0.67999	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	269|.	P62873|.	GBB1_HUMAN|.	T|P	269;169;269|127	ENSP00000367872:I269T|.	ENSP00000367869:I269T|.	I|S	-|-	2|1	0|0	GNB1|GNB1	1710462|1710462	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.979000|0.979000	0.70002|0.70002	9.068000|9.068000	0.93961|0.93961	2.025000|2.025000	0.59659|0.59659	0.533000|0.533000	0.62120|0.62120	ATC|TCA	GNB1	-	pirsf_Guanine_nucleotide-bd_bsu,superfamily_WD40_repeat_dom,smart_WD40_repeat,pfscan_WD40_repeat_dom	ENSG00000078369		0.562	GNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GNB1	HGNC	protein_coding	OTTHUMT00000002762.3	97	0.00	0	A	NM_002074		1720602	1720602	-1	no_errors	ENST00000378606	ensembl	human	known	69_37n	missense	30	21.05	8	SNP	1.000	G
GRID1	2894	genome.wustl.edu	37	10	87362239	87362239	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0HN-01A-11D-A099-09	TCGA-BH-A0HN-10A-01D-A099-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	ada199c5-8015-481f-a46e-46fa42646cd8	c86ec88b-34c5-4b99-a6a7-aa0c4b033684	g.chr10:87362239G>A	ENST00000327946.7	-	16	2906	c.2821C>T	c.(2821-2823)Cgg>Tgg	p.R941W	GRID1_ENST00000552278.2_5'UTR|RP11-93H12.2_ENST00000443311.1_RNA|GRID1_ENST00000536331.1_Missense_Mutation_p.R512W	NM_017551.2	NP_060021.1	Q9ULK0	GRID1_HUMAN	glutamate receptor, ionotropic, delta 1	941					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|social behavior (GO:0035176)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|ionotropic glutamate receptor complex (GO:0008328)|postsynaptic membrane (GO:0045211)	extracellular-glutamate-gated ion channel activity (GO:0005234)|ionotropic glutamate receptor activity (GO:0004970)	p.R941W(1)		NS(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(46)|ovary(5)|prostate(4)|skin(5)|stomach(4)|upper_aerodigestive_tract(5)	106						GAGAGTGTCCGGCTGGTGCCA	0.652										Multiple Myeloma(13;0.14)																												dbGAP											1	Substitution - Missense(1)	breast(1)											54.0	53.0	53.0					10																	87362239		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB033046	CCDS31236.1	10q22	2012-08-29			ENSG00000182771	ENSG00000182771		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4575	protein-coding gene	gene with protein product		610659					Standard	NM_017551		Approved	GluD1, KIAA1220	uc001kdl.1	Q9ULK0	OTTHUMG00000018650	ENST00000327946.7:c.2821C>T	10.37:g.87362239G>A	ENSP00000330148:p.Arg941Trp	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KXD5|B7Z7L0|Q8IXT3	Missense_Mutation	SNP	pfam_ANF_lig-bd_rcpt,pfam_Iontro_glu_rcpt,pfam_SBP_bac_3,pfam_Glu_rcpt_Glu/Gly-bd,smart_Iontro_glu_rcpt,smart_Glu_rcpt_Glu/Gly-bd,prints_NMDA_rcpt	p.R941W	ENST00000327946.7	37	c.2821	CCDS31236.1	10	.	.	.	.	.	.	.	.	.	.	G	18.93	3.726858	0.69074	.	.	ENSG00000182771	ENST00000327946;ENST00000536331	T;T	0.21031	2.25;2.03	5.83	4.87	0.63330	.	0.224065	0.41823	D	0.000809	T	0.40694	0.1127	L	0.58101	1.795	0.58432	D	0.999994	D	0.89917	1.0	D	0.77557	0.99	T	0.13415	-1.0510	10	0.87932	D	0	.	11.8994	0.52673	0.0:0.0:0.6944:0.3056	.	941	Q9ULK0	GRID1_HUMAN	W	941;512	ENSP00000330148:R941W;ENSP00000444455:R512W	ENSP00000330148:R941W	R	-	1	2	GRID1	87352219	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	3.553000	0.53713	2.750000	0.94351	0.655000	0.94253	CGG	GRID1	-	NULL	ENSG00000182771		0.652	GRID1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	GRID1	HGNC	protein_coding	OTTHUMT00000049148.3	49	0.00	0	G	XM_043613		87362239	87362239	-1	no_errors	ENST00000327946	ensembl	human	known	69_37n	missense	5	44.44	4	SNP	1.000	A
LPAR1	1902	genome.wustl.edu	37	9	113637890	113637890	+	Silent	SNP	G	G	A			TCGA-BH-A0HN-01A-11D-A099-09	TCGA-BH-A0HN-10A-01D-A099-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	ada199c5-8015-481f-a46e-46fa42646cd8	c86ec88b-34c5-4b99-a6a7-aa0c4b033684	g.chr9:113637890G>A	ENST00000374431.3	-	5	1289	c.906C>T	c.(904-906)ttC>ttT	p.F302F	LPAR1_ENST00000541779.1_Silent_p.F303F|LPAR1_ENST00000538760.1_Silent_p.F303F|LPAR1_ENST00000358883.4_Silent_p.F302F|LPAR1_ENST00000374430.2_Silent_p.F302F	NM_057159.2	NP_476500.1	Q92633	LPAR1_HUMAN	lysophosphatidic acid receptor 1	302					activation of MAPK activity (GO:0000187)|activation of phospholipase C activity (GO:0007202)|bleb assembly (GO:0032060)|cellular response to oxygen levels (GO:0071453)|G-protein coupled receptor signaling pathway (GO:0007186)|myelination (GO:0042552)|negative regulation of neuron projection development (GO:0010977)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of Rho protein signal transduction (GO:0035025)|positive regulation of smooth muscle cell chemotaxis (GO:0071673)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|lysophosphatidic acid receptor activity (GO:0070915)|phospholipid binding (GO:0005543)	p.F302F(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(1)|ovary(2)|prostate(6)|skin(1)	21						TGGCAGAGTTGAATTCAGCAA	0.517																																					NSCLC(115;661 2323 9836 34256)	dbGAP											1	Substitution - coding silent(1)	breast(1)											134.0	135.0	134.0					9																	113637890		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			U80811	CCDS6777.1	9q	2012-08-08	2008-04-11	2008-04-11	ENSG00000198121	ENSG00000198121		"""GPCR / Class A : Lysophospholipid receptors : Lysophosphatidic acid"""	3166	protein-coding gene	gene with protein product		602282	"""endothelial differentiation, lysophosphatidic acid G-protein-coupled receptor, 2"""	EDG2		8922387, 9070858	Standard	NM_001401		Approved	edg-2, rec.1.3, vzg-1, Gpcr26, Mrec1.3, LPA1, GPR26	uc004bfc.3	Q92633	OTTHUMG00000020486	ENST00000374431.3:c.906C>T	9.37:g.113637890G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B4DK36|O00656|O00722|P78351	Silent	SNP	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_LPA_rcpt_EDG2,prints_LPA_rcpt,prints_7TM_GPCR_Rhodpsn	p.F303	ENST00000374431.3	37	c.909	CCDS6777.1	9																																																																																			LPAR1	-	pfam_7TM_GPCR_Rhodpsn,pfscan_GPCR_Rhodpsn_supfam,prints_7TM_GPCR_Rhodpsn	ENSG00000198121		0.517	LPAR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LPAR1	HGNC	protein_coding	OTTHUMT00000053631.1	139	0.00	0	G	NM_057159		113637890	113637890	-1	no_errors	ENST00000538760	ensembl	human	known	69_37n	silent	44	60.36	67	SNP	1.000	A
MDN1	23195	genome.wustl.edu	37	6	90402199	90402199	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BH-A0HN-01A-11D-A099-09	TCGA-BH-A0HN-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	ada199c5-8015-481f-a46e-46fa42646cd8	c86ec88b-34c5-4b99-a6a7-aa0c4b033684	g.chr6:90402199delT	ENST00000369393.3	-	63	10665	c.10550delA	c.(10549-10551)gacfs	p.D3517fs	MDN1_ENST00000428876.1_Frame_Shift_Del_p.D3517fs			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	3517					ATP catabolic process (GO:0006200)|protein complex assembly (GO:0006461)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|unfolded protein binding (GO:0051082)			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		GGCCCTCTGGTCCAACTCTCC	0.602																																						dbGAP											0													48.0	48.0	48.0					6																	90402199		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			AF503925	CCDS5024.1	6q15	2014-01-28			ENSG00000112159	ENSG00000112159			18302	protein-coding gene	gene with protein product						9205841, 12102729	Standard	XM_005248699		Approved	KIAA0301	uc003pnn.1	Q9NU22	OTTHUMG00000015213	ENST00000369393.3:c.10550delA	6.37:g.90402199delT	ENSP00000358400:p.Asp3517fs	Somatic		WXS	Illumina GAIIx	Phase_IV	O15019|Q5T794	Frame_Shift_Del	DEL	pfam_ATPase_dyneun-rel_AAA,pfam_ATPase_AAA-3,superfamily_ARM-type_fold,smart_AAA+_ATPase,smart_VWF_A,pirsf_Midasin,pfscan_VWF_A	p.D3517fs	ENST00000369393.3	37	c.10550	CCDS5024.1	6																																																																																			MDN1	-	pirsf_Midasin	ENSG00000112159		0.602	MDN1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	MDN1	HGNC	protein_coding	OTTHUMT00000041514.2	27	0.00	0	T			90402199	90402199	-1	no_errors	ENST00000369393	ensembl	human	known	69_37n	frame_shift_del	8	20.00	2	DEL	1.000	-
KMT2C	58508	genome.wustl.edu	37	7	151962208	151962208	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0HN-01A-11D-A099-09	TCGA-BH-A0HN-10A-01D-A099-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	ada199c5-8015-481f-a46e-46fa42646cd8	c86ec88b-34c5-4b99-a6a7-aa0c4b033684	g.chr7:151962208G>A	ENST00000262189.6	-	8	1317	c.1099C>T	c.(1099-1101)Cat>Tat	p.H367Y	KMT2C_ENST00000355193.2_Missense_Mutation_p.H367Y	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	367					histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.H367Y(2)									CACATTCCATGATAGTGCTGA	0.448																																						dbGAP											2	Substitution - Missense(2)	breast(2)											408.0	365.0	380.0					7																	151962208		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	13726	protein-coding gene	gene with protein product		606833	"""myeloid/lymphoid or mixed-lineage leukemia 3"""	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.1099C>T	7.37:g.151962208G>A	ENSP00000262189:p.His367Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Missense_Mutation	SNP	pfam_Znf_PHD-finger,pfam_SET_dom,pfam_FYrich_C,pfam_FYrich_N,superfamily_Znf_FYVE_PHD,superfamily_HMG_superfamily,smart_Znf_PHD,smart_Znf_RING,smart_HMG_superfamily,smart_FYrich_N,smart_FYrich_C,smart_SET_dom,smart_Post-SET_dom,pfscan_SET_dom,pfscan_Post-SET_dom,pfscan_Znf_DHHC_palmitoyltrfase,pfscan_Znf_PHD-finger,pfscan_Znf_RING	p.H367Y	ENST00000262189.6	37	c.1099	CCDS5931.1	7	.	.	.	.	.	.	.	.	.	.	G	13.43	2.235301	0.39498	.	.	ENSG00000055609	ENST00000262189;ENST00000355193	D;D	0.99849	-7.15;-7.15	4.65	4.65	0.58169	Zinc finger, PHD-finger (1);Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);Zinc finger, PHD-type (1);Protein kinase C-like, phorbol ester/diacylglycerol binding (1);Zinc finger, FYVE/PHD-type (1);	0.000000	0.42964	U	0.000636	D	0.99862	0.9935	M	0.92507	3.315	0.80722	D	1	D	0.63880	0.993	D	0.70227	0.968	D	0.96386	0.9285	10	0.87932	D	0	.	17.9157	0.88950	0.0:0.0:1.0:0.0	.	367	Q8NEZ4	MLL3_HUMAN	Y	367	ENSP00000262189:H367Y;ENSP00000347325:H367Y	ENSP00000262189:H367Y	H	-	1	0	MLL3	151593141	1.000000	0.71417	1.000000	0.80357	0.160000	0.22226	9.813000	0.99286	2.271000	0.75665	0.557000	0.71058	CAT	MLL3	-	superfamily_Znf_FYVE_PHD,smart_Znf_PHD,smart_Znf_RING,pfscan_Znf_PHD-finger,pfscan_Znf_RING	ENSG00000055609		0.448	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	MLL3	HGNC	protein_coding	OTTHUMT00000318887.3	435	0.00	0	G			151962208	151962208	-1	no_errors	ENST00000355193	ensembl	human	known	69_37n	missense	176	28.16	69	SNP	1.000	A
OPTN	10133	genome.wustl.edu	37	10	13166055	13166055	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0HN-01A-11D-A099-09	TCGA-BH-A0HN-10A-01D-A099-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	ada199c5-8015-481f-a46e-46fa42646cd8	c86ec88b-34c5-4b99-a6a7-aa0c4b033684	g.chr10:13166055G>A	ENST00000378748.3	+	10	1305	c.943G>A	c.(943-945)Gag>Aag	p.E315K	OPTN_ENST00000378752.3_Missense_Mutation_p.E309K|OPTN_ENST00000378764.2_Missense_Mutation_p.E309K|OPTN_ENST00000378757.2_Missense_Mutation_p.E315K|OPTN_ENST00000378747.3_Missense_Mutation_p.E315K|OPTN_ENST00000263036.5_Missense_Mutation_p.E315K	NM_001008211.1|NM_001008213.1	NP_001008212|NP_001008214	Q96CV9	OPTN_HUMAN	optineurin	315					cell death (GO:0008219)|defense response to Gram-negative bacterium (GO:0050829)|G2/M transition of mitotic cell cycle (GO:0000086)|Golgi organization (GO:0007030)|Golgi ribbon formation (GO:0090161)|Golgi to plasma membrane protein transport (GO:0043001)|macroautophagy (GO:0016236)|mitotic cell cycle (GO:0000278)|negative regulation of receptor recycling (GO:0001920)|protein targeting to Golgi (GO:0000042)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|nucleoplasm (GO:0005654)|perinuclear region of cytoplasm (GO:0048471)|trans-Golgi network (GO:0005802)	polyubiquitin binding (GO:0031593)|protein C-terminus binding (GO:0008022)|Rab GTPase binding (GO:0017137)	p.E315K(1)		breast(1)|endometrium(2)|large_intestine(5)|lung(9)|ovary(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	22						GGAGCTTCAAGAGGCTCATAC	0.388																																						dbGAP											1	Substitution - Missense(1)	breast(1)											61.0	61.0	61.0					10																	13166055		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF420371	CCDS7094.1	10p14	2014-01-28	2003-09-08		ENSG00000123240	ENSG00000123240			17142	protein-coding gene	gene with protein product		602432	"""glaucoma 1, open angle, E (adult-onset)"""	GLC1E		11834836, 9488477	Standard	NM_001008211		Approved	FIP2, HYPL, FIP-2, TFIIIA-INTP, NRP, HIP7	uc001ilx.1	Q96CV9	OTTHUMG00000017690	ENST00000378748.3:c.943G>A	10.37:g.13166055G>A	ENSP00000368022:p.Glu315Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KP00|D3DRS4|D3DRS8|Q5T672|Q5T673|Q5T674|Q5T675|Q7LDL9|Q8N562|Q9UET9|Q9UEV4|Q9Y218	Missense_Mutation	SNP	pfam_NEMO_N	p.E315K	ENST00000378748.3	37	c.943	CCDS7094.1	10	.	.	.	.	.	.	.	.	.	.	G	22.1	4.245700	0.80024	.	.	ENSG00000123240	ENST00000263036;ENST00000378764;ENST00000378757;ENST00000378752;ENST00000378748;ENST00000378747	D;D;D;D;D;D	0.91521	-2.86;-2.85;-2.86;-2.85;-2.86;-2.86	6.17	5.27	0.74061	.	0.090754	0.85682	N	0.000000	D	0.93481	0.7920	M	0.64997	1.995	0.48762	D	0.999709	D;D	0.62365	0.991;0.985	P;P	0.61658	0.892;0.783	D	0.93896	0.7184	10	0.66056	D	0.02	-25.8352	14.4419	0.67323	0.0712:0.0:0.9288:0.0	.	309;315	Q96CV9-2;Q96CV9	.;OPTN_HUMAN	K	315;309;315;309;315;315	ENSP00000263036:E315K;ENSP00000368040:E309K;ENSP00000368032:E315K;ENSP00000368027:E309K;ENSP00000368022:E315K;ENSP00000368021:E315K	ENSP00000263036:E315K	E	+	1	0	OPTN	13206061	1.000000	0.71417	0.976000	0.42696	0.418000	0.31294	5.644000	0.67902	1.621000	0.50320	0.655000	0.94253	GAG	OPTN	-	NULL	ENSG00000123240		0.388	OPTN-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	OPTN	HGNC	protein_coding	OTTHUMT00000046834.1	117	0.00	0	G	NM_021980		13166055	13166055	+1	no_errors	ENST00000263036	ensembl	human	known	69_37n	missense	38	39.68	25	SNP	0.994	A
PIK3CA	5290	genome.wustl.edu	37	3	178921553	178921553	+	Missense_Mutation	SNP	T	T	A	rs121913284		TCGA-BH-A0HN-01A-11D-A099-09	TCGA-BH-A0HN-10A-01D-A099-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	ada199c5-8015-481f-a46e-46fa42646cd8	c86ec88b-34c5-4b99-a6a7-aa0c4b033684	g.chr3:178921553T>A	ENST00000263967.3	+	5	1192	c.1035T>A	c.(1033-1035)aaT>aaA	p.N345K		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	345	C2 PI3K-type. {ECO:0000255|PROSITE- ProRule:PRU00880}.				angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.N345K(44)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	CCTACGTGAATGTAAATATTC	0.308		57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)	dbGAP		Dom	yes		3	3q26.3	5290	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""		"""E, O"""	44	Substitution - Missense(44)	breast(27)|endometrium(6)|large_intestine(6)|central_nervous_system(5)											67.0	66.0	66.0					3																	178921553		1807	4074	5881	-	-	-	SO:0001583	missense	0				CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.1035T>A	3.37:g.178921553T>A	ENSP00000263967:p.Asn345Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q14CW1|Q99762	Missense_Mutation	SNP	pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	p.N345K	ENST00000263967.3	37	c.1035	CCDS43171.1	3	.	.	.	.	.	.	.	.	.	.	T	16.01	3.002090	0.54254	.	.	ENSG00000121879	ENST00000263967	T	0.70164	-0.46	5.41	3.03	0.35002	C2 calcium-dependent membrane targeting (1);C2 calcium/lipid-binding domain, CaLB (1);Phosphoinositide 3-kinase, C2 (1);	0.000000	0.85682	D	0.000000	T	0.77745	0.4176	M	0.71581	2.175	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.75465	-0.3308	10	0.49607	T	0.09	-21.0442	9.7159	0.40274	0.0:0.1415:0.0:0.8585	.	345	P42336	PK3CA_HUMAN	K	345	ENSP00000263967:N345K	ENSP00000263967:N345K	N	+	3	2	PIK3CA	180404247	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.030000	0.41108	0.441000	0.26529	0.402000	0.26972	AAT	PIK3CA	-	superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_C2_dom	ENSG00000121879		0.308	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	PIK3CA	HGNC	protein_coding	OTTHUMT00000348409.2	95	0.00	0	T			178921553	178921553	+1	no_errors	ENST00000263967	ensembl	human	known	69_37n	missense	53	56.56	69	SNP	1.000	A
POTEM	641455	genome.wustl.edu	37	14	20020113	20020113	+	Silent	SNP	C	C	T	rs199622050		TCGA-BH-A0HN-01A-11D-A099-09	TCGA-BH-A0HN-10A-01D-A099-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	ada199c5-8015-481f-a46e-46fa42646cd8	c86ec88b-34c5-4b99-a6a7-aa0c4b033684	g.chr14:20020113C>T	ENST00000551509.1	-	1	159	c.108G>A	c.(106-108)agG>agA	p.R36R		NM_001145442.1	NP_001138914.1	A6NI47	POTEM_HUMAN	POTE ankyrin domain family, member M	36										endometrium(4)|kidney(1)|lung(4)	9						TGCCGCTCCCCCTGCACCAGG	0.587																																						dbGAP											0													5.0	6.0	6.0					14																	20020113		197	578	775	-	-	-	SO:0001819	synonymous_variant	0				CCDS73609.1	14q11.2	2013-01-10			ENSG00000187537	ENSG00000187537		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	37096	protein-coding gene	gene with protein product	"""prostate-specific P704P"""					16364570	Standard	NM_001145442		Approved	POTE14beta, P704P, ACT	uc001vwc.3	A6NI47		ENST00000551509.1:c.108G>A	14.37:g.20020113C>T		Somatic		WXS	Illumina GAIIx	Phase_IV		Silent	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt	p.R36	ENST00000551509.1	37	c.108	CCDS45076.1	14																																																																																			POTEM	-	NULL	ENSG00000187537		0.587	POTEM-001	NOVEL	basic|appris_principal|CCDS	protein_coding	POTEM	HGNC	protein_coding	OTTHUMT00000409490.3	15	0.00	0	C	NM_001145442		20020113	20020113	-1	no_errors	ENST00000547848	ensembl	human	known	69_37n	silent	12	29.41	5	SNP	0.101	T
SGCB	6443	genome.wustl.edu	37	4	52899712	52899712	+	Missense_Mutation	SNP	C	C	A			TCGA-BH-A0HN-01A-11D-A099-09	TCGA-BH-A0HN-10A-01D-A099-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	ada199c5-8015-481f-a46e-46fa42646cd8	c86ec88b-34c5-4b99-a6a7-aa0c4b033684	g.chr4:52899712C>A	ENST00000381431.5	-	2	350	c.128G>T	c.(127-129)gGa>gTa	p.G43V	SGCB_ENST00000535450.1_Intron	NM_000232.4	NP_000223.1	Q16585	SGCB_HUMAN	sarcoglycan, beta (43kDa dystrophin-associated glycoprotein)	43					cardiac muscle cell development (GO:0055013)|muscle fiber development (GO:0048747)|muscle organ development (GO:0007517)|vascular smooth muscle cell development (GO:0097084)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|dystrophin-associated glycoprotein complex (GO:0016010)|integral component of plasma membrane (GO:0005887)|sarcoglycan complex (GO:0016012)|sarcolemma (GO:0042383)		p.G43V(1)		breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(6)|prostate(1)	17			GBM - Glioblastoma multiforme(4;7.63e-12)|LUSC - Lung squamous cell carcinoma(32;0.00204)			CGGAATGTATCCAGCTTTAAA	0.418																																						dbGAP											1	Substitution - Missense(1)	breast(1)											223.0	195.0	204.0					4																	52899712		2203	4300	6503	-	-	-	SO:0001583	missense	0			U29586	CCDS3488.1	4q12	2014-09-17	2002-08-29		ENSG00000163069	ENSG00000163069			10806	protein-coding gene	gene with protein product		600900	"""sarcoglycan, beta (43kD dystrophin-associated glycoprotein)"""	LGMD2E		8968749	Standard	NM_000232		Approved	SGC, A3b	uc003gzj.2	Q16585	OTTHUMG00000128697	ENST00000381431.5:c.128G>T	4.37:g.52899712C>A	ENSP00000370839:p.Gly43Val	Somatic		WXS	Illumina GAIIx	Phase_IV	B7Z635|O00661	Missense_Mutation	SNP	pfam_Sarcoglycan	p.G43V	ENST00000381431.5	37	c.128	CCDS3488.1	4	.	.	.	.	.	.	.	.	.	.	C	16.70	3.196670	0.58126	.	.	ENSG00000163069	ENST00000381431	D	0.91464	-2.85	5.29	5.29	0.74685	.	0.000000	0.85682	D	0.000000	D	0.92779	0.7704	L	0.34521	1.04	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.93528	0.6867	10	0.62326	D	0.03	-15.0307	17.921	0.88966	0.0:1.0:0.0:0.0	.	43	Q16585	SGCB_HUMAN	V	43	ENSP00000370839:G43V	ENSP00000370839:G43V	G	-	2	0	SGCB	52594469	1.000000	0.71417	0.595000	0.28798	0.025000	0.11179	7.750000	0.85110	2.476000	0.83614	0.650000	0.86243	GGA	SGCB	-	NULL	ENSG00000163069		0.418	SGCB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SGCB	HGNC	protein_coding	OTTHUMT00000250596.2	311	0.00	0	C			52899712	52899712	-1	no_errors	ENST00000381431	ensembl	human	known	69_37n	missense	140	37.78	85	SNP	1.000	A
SLC39A13	91252	genome.wustl.edu	37	11	47436878	47436878	+	Silent	SNP	C	C	T			TCGA-BH-A0HN-01A-11D-A099-09	TCGA-BH-A0HN-10A-01D-A099-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	ada199c5-8015-481f-a46e-46fa42646cd8	c86ec88b-34c5-4b99-a6a7-aa0c4b033684	g.chr11:47436878C>T	ENST00000362021.4	+	10	1122	c.1080C>T	c.(1078-1080)atC>atT	p.I360I	SLC39A13_ENST00000354884.4_Silent_p.I353I|SLC39A13_ENST00000524928.1_3'UTR|SLC39A13_ENST00000533076.1_3'UTR	NM_001128225.2	NP_001121697	Q96H72	S39AD_HUMAN	solute carrier family 39 (zinc transporter), member 13	360					cellular zinc ion homeostasis (GO:0006882)|connective tissue development (GO:0061448)|zinc ion transmembrane transport (GO:0071577)	Golgi apparatus (GO:0005794)|integral component of Golgi membrane (GO:0030173)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)	protein homodimerization activity (GO:0042803)|zinc ion transmembrane transporter activity (GO:0005385)	p.I353I(1)		breast(1)|kidney(1)|lung(1)|prostate(1)	4				Lung(87;0.0936)		GTGCGGGCATCGTGGTAATGG	0.627																																						dbGAP											1	Substitution - coding silent(1)	breast(1)											164.0	135.0	145.0					11																	47436878		2201	4298	6499	-	-	-	SO:0001819	synonymous_variant	0				CCDS7934.1, CCDS44592.1	11p11.2	2013-05-22			ENSG00000165915	ENSG00000165915		"""Solute carriers"""	20859	protein-coding gene	gene with protein product		608735	"""solute carrier family 39 (metal ion transporter), member 13"""			12659941	Standard	NM_001128225		Approved	FLJ25785	uc009ylq.3	Q96H72	OTTHUMG00000166890	ENST00000362021.4:c.1080C>T	11.37:g.47436878C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	D3DQR6|D3DQR7|E9PLY1|E9PQV3|Q659D9|Q8N7C9|Q8WV10	Silent	SNP	pfam_ZIP	p.I360	ENST00000362021.4	37	c.1080	CCDS44592.1	11																																																																																			SLC39A13	-	pfam_ZIP	ENSG00000165915		0.627	SLC39A13-012	KNOWN	basic|CCDS	protein_coding	SLC39A13	HGNC	protein_coding	OTTHUMT00000395652.1	91	0.00	0	C	NM_152264		47436878	47436878	+1	no_errors	ENST00000362021	ensembl	human	known	69_37n	silent	22	37.14	13	SNP	0.477	T
SRSF8	10929	genome.wustl.edu	37	11	94801110	94801110	+	RNA	SNP	C	C	G			TCGA-BH-A0HN-01A-11D-A099-09	TCGA-BH-A0HN-10A-01D-A099-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	ada199c5-8015-481f-a46e-46fa42646cd8	c86ec88b-34c5-4b99-a6a7-aa0c4b033684	g.chr11:94801110C>G	ENST00000529911.1	+	0	750					NM_032102.3	NP_115285.1	Q9BRL6	SRSF8_HUMAN	serine/arginine-rich splicing factor 8						mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)										CTCCAGGTCTCGCTCGCGGTC	0.587																																						dbGAP											0													56.0	61.0	59.0					11																	94801110		2167	4284	6451	-	-	-			0			AF031166	CCDS73370.1	11q21	2014-05-06	2010-06-22	2010-06-22	ENSG00000180771	ENSG00000263465		"""Serine/arginine-rich splicing factors"""	16988	protein-coding gene	gene with protein product	"""SR splicing factor 8"""	603269	"""splicing factor, arginine/serine-rich 2B"""	SFRS2B		9671500, 20516191	Standard	NM_032102		Approved	SRP46	uc001pff.3	Q9BRL6	OTTHUMG00000188534		11.37:g.94801110C>G		Somatic		WXS	Illumina GAIIx	Phase_IV	B2R6B8|Q6PF01|Q96TA3	RNA	SNP	-	NULL	ENST00000529911.1	37	NULL		11																																																																																			SRSF8	-	-	ENSG00000180771		0.587	SRSF8-002	KNOWN	basic	polymorphic_pseudogene	SRSF8	HGNC	polymorphic_pseudogene	OTTHUMT00000390962.3	85	0.00	0	C	NM_032102		94801110	94801110	+1	no_errors	ENST00000529911	ensembl	human	known	69_37n	rna	5	82.14	23	SNP	1.000	G
SVEP1	79987	genome.wustl.edu	37	9	113169227	113169227	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0HN-01A-11D-A099-09	TCGA-BH-A0HN-10A-01D-A099-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	ada199c5-8015-481f-a46e-46fa42646cd8	c86ec88b-34c5-4b99-a6a7-aa0c4b033684	g.chr9:113169227C>T	ENST00000401783.2	-	38	8989	c.8653G>A	c.(8653-8655)Gac>Aac	p.D2885N	SVEP1_ENST00000297826.5_Missense_Mutation_p.D811N|SVEP1_ENST00000374469.1_Missense_Mutation_p.D2862N	NM_153366.3	NP_699197.3	Q4LDE5	SVEP1_HUMAN	sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1	2885	Sushi 24. {ECO:0000255|PROSITE- ProRule:PRU00302}.				cell adhesion (GO:0007155)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|chromatin binding (GO:0003682)	p.D2888N(1)		NS(1)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(2)|endometrium(19)|kidney(8)|large_intestine(24)|lung(58)|ovary(7)|prostate(7)|skin(1)|stomach(4)|upper_aerodigestive_tract(5)|urinary_tract(4)	147						GGCACACAGTCGGGAGTGGCT	0.527																																						dbGAP											1	Substitution - Missense(1)	breast(1)											48.0	52.0	51.0					9																	113169227		2043	4200	6243	-	-	-	SO:0001583	missense	0			AK027870		9q31-q32	2008-02-05	2005-03-15	2005-03-17	ENSG00000165124	ENSG00000165124			15985	protein-coding gene	gene with protein product		611691	"""chromosome 9 open reading frame 13"""	C9orf13			Standard	NM_153366		Approved	bA427L11.3, POLYDOM, FLJ13529	uc010mtz.3	Q4LDE5	OTTHUMG00000020482	ENST00000401783.2:c.8653G>A	9.37:g.113169227C>T	ENSP00000384917:p.Asp2885Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	Q0P675|Q5D213|Q5T938|Q5VTE4|Q5VTE5|Q7Z387|Q7Z3G3|Q8NBT9|Q96JU7|Q9H284|Q9H8J9	Missense_Mutation	SNP	pfam_Sushi_SCR_CCP,pfam_EGF-like_dom,pfam_Tyr-kin_ephrin_A/B_rcpt-like,pfam_Hyalin,pfam_VWF_A,pfam_Pentaxin,pfam_EGF_extracell,pfam_EGF-like_Ca-bd,superfamily_ConA-like_lec_gl,superfamily_Complement_control_module,superfamily_Growth_fac_rcpt,smart_VWF_A,smart_Sushi_SCR_CCP,smart_EGF-like_Ca-bd,smart_EGF-like,smart_Pentaxin,pfscan_EG-like_dom,pfscan_Hyalin,pfscan_Sushi_SCR_CCP,pfscan_VWF_A,prints_Pentaxin	p.D2885N	ENST00000401783.2	37	c.8653	CCDS48004.1	9	.	.	.	.	.	.	.	.	.	.	C	11.42	1.634215	0.29068	.	.	ENSG00000165124	ENST00000401783;ENST00000374469;ENST00000297826	T;T;T	0.64991	-0.13;-0.13;-0.13	5.66	-5.16	0.02857	Complement control module (2);Sushi/SCR/CCP (3);	1.432960	0.03671	N	0.243983	T	0.38134	0.1029	N	0.16201	0.385	0.09310	N	1	B	0.09022	0.002	B	0.01281	0.0	T	0.15235	-1.0444	10	0.15952	T	0.53	.	5.8693	0.18795	0.108:0.5141:0.1098:0.2681	.	2885	Q4LDE5	SVEP1_HUMAN	N	2885;2862;811	ENSP00000384917:D2885N;ENSP00000363593:D2862N;ENSP00000297826:D811N	ENSP00000297826:D811N	D	-	1	0	SVEP1	112209048	0.000000	0.05858	0.000000	0.03702	0.219000	0.24729	-0.763000	0.04740	-0.734000	0.04843	-0.964000	0.02622	GAC	SVEP1	-	pfam_Sushi_SCR_CCP,superfamily_Complement_control_module,smart_Sushi_SCR_CCP,pfscan_Sushi_SCR_CCP	ENSG00000165124		0.527	SVEP1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	SVEP1	HGNC	protein_coding		29	0.00	0	C			113169227	113169227	-1	no_errors	ENST00000401783	ensembl	human	known	69_37n	missense	18	41.94	13	SNP	0.000	T
TIMM22	29928	genome.wustl.edu	37	17	900500	900500	+	Missense_Mutation	SNP	C	C	T			TCGA-BH-A0HN-01A-11D-A099-09	TCGA-BH-A0HN-10A-01D-A099-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	ada199c5-8015-481f-a46e-46fa42646cd8	c86ec88b-34c5-4b99-a6a7-aa0c4b033684	g.chr17:900500C>T	ENST00000327158.4	+	1	144	c.118C>T	c.(118-120)Cgg>Tgg	p.R40W		NM_013337.2	NP_037469.2	Q9Y584	TIM22_HUMAN	translocase of inner mitochondrial membrane 22 homolog (yeast)	40					cellular protein metabolic process (GO:0044267)|protein import into mitochondrial inner membrane (GO:0045039)|protein targeting to mitochondrion (GO:0006626)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)	protein channel activity (GO:0015266)	p.R40W(1)		breast(2)|endometrium(2)|large_intestine(1)|prostate(1)|upper_aerodigestive_tract(1)	7				UCEC - Uterine corpus endometrioid carcinoma (25;0.022)		GCGTCAGCCCCGGCTCCTGGA	0.642																																						dbGAP											1	Substitution - Missense(1)	breast(1)											29.0	33.0	31.0					17																	900500		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF155330	CCDS32521.1	17p13	2008-02-05	2003-07-22			ENSG00000177370			17317	protein-coding gene	gene with protein product		607251	"""testis-expressed sequence 4"""	TEX4			Standard	NM_013337		Approved		uc002fsc.3	Q9Y584		ENST00000327158.4:c.118C>T	17.37:g.900500C>T	ENSP00000320236:p.Arg40Trp	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9NWI8	Missense_Mutation	SNP	pfam_Tim17/Tim22/Tim23/PMP24	p.R40W	ENST00000327158.4	37	c.118	CCDS32521.1	17	.	.	.	.	.	.	.	.	.	.	C	17.73	3.461061	0.63513	.	.	ENSG00000177370	ENST00000327158	T	0.45668	0.89	5.42	2.09	0.27110	.	0.153383	0.56097	D	0.000026	T	0.28599	0.0708	L	0.43152	1.355	0.36071	D	0.842107	B	0.09022	0.002	B	0.04013	0.001	T	0.31530	-0.9940	10	0.40728	T	0.16	-19.2337	4.7649	0.13127	0.2502:0.5446:0.127:0.0781	.	40	Q9Y584	TIM22_HUMAN	W	40	ENSP00000320236:R40W	ENSP00000320236:R40W	R	+	1	2	TIMM22	847250	0.945000	0.32115	0.998000	0.56505	0.912000	0.54170	1.521000	0.35910	2.529000	0.85273	0.485000	0.47835	CGG	TIMM22	-	NULL	ENSG00000177370		0.642	TIMM22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TIMM22	HGNC	protein_coding	OTTHUMT00000450107.2	26	0.00	0	C	NM_013337		900500	900500	+1	no_errors	ENST00000327158	ensembl	human	known	69_37n	missense	2	81.82	9	SNP	0.898	T
TSKS	60385	genome.wustl.edu	37	19	50251415	50251415	+	Missense_Mutation	SNP	G	G	A			TCGA-BH-A0HN-01A-11D-A099-09	TCGA-BH-A0HN-10A-01D-A099-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	ada199c5-8015-481f-a46e-46fa42646cd8	c86ec88b-34c5-4b99-a6a7-aa0c4b033684	g.chr19:50251415G>A	ENST00000246801.3	-	4	588	c.506C>T	c.(505-507)tCt>tTt	p.S169F	TSKS_ENST00000358830.3_5'Flank	NM_021733.1	NP_068379.1	Q9UJT2	TSKS_HUMAN	testis-specific serine kinase substrate	169					negative regulation of phosphatase activity (GO:0010923)	centriole (GO:0005814)	protein kinase binding (GO:0019901)	p.S169F(1)		breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|prostate(3)|skin(3)	38		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(134;0.0145)		GCTCAGCACAGAACACTCGCT	0.547																																						dbGAP											1	Substitution - Missense(1)	breast(1)											140.0	117.0	125.0					19																	50251415		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC058862	CCDS12780.1	19q13.3	2014-06-13							30719	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 161"""	608253				11444856, 18495105	Standard	NM_021733		Approved	TSSKS, PPP1R161	uc002ppm.3	Q9UJT2		ENST00000246801.3:c.506C>T	19.37:g.50251415G>A	ENSP00000246801:p.Ser169Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8WXJ0	Missense_Mutation	SNP	NULL	p.S169F	ENST00000246801.3	37	c.506	CCDS12780.1	19	.	.	.	.	.	.	.	.	.	.	G	14.80	2.644949	0.47258	.	.	ENSG00000126467	ENST00000246801	T	0.36878	1.23	5.6	4.57	0.56435	.	0.261873	0.27659	N	0.018398	T	0.27524	0.0676	L	0.29908	0.895	0.80722	D	1	B	0.11235	0.004	B	0.14023	0.01	T	0.07501	-1.0769	10	0.87932	D	0	-8.8167	10.4722	0.44644	0.0899:0.0:0.9101:0.0	.	169	Q9UJT2	TSKS_HUMAN	F	169	ENSP00000246801:S169F	ENSP00000246801:S169F	S	-	2	0	TSKS	54943227	0.999000	0.42202	0.271000	0.24616	0.415000	0.31203	5.054000	0.64275	1.371000	0.46172	0.462000	0.41574	TCT	TSKS	-	NULL	ENSG00000126467		0.547	TSKS-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TSKS	HGNC	protein_coding	OTTHUMT00000465795.1	162	0.00	0	G	NM_021733		50251415	50251415	-1	no_errors	ENST00000246801	ensembl	human	known	69_37n	missense	44	55.56	55	SNP	0.829	A
