#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
BORA	79866	genome.wustl.edu	37	13	73321056	73321056	+	Missense_Mutation	SNP	A	A	T	rs150454213	byFrequency	TCGA-AN-A03Y-01A-21W-A019-09	TCGA-AN-A03Y-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	f4849adc-b6e8-40bd-9de4-dc5bb37d2a79	c75fcb7d-04da-4c92-a5cd-9a34a370773c	g.chr13:73321056A>T	ENST00000390667.5	+	10	1386	c.1289A>T	c.(1288-1290)aAt>aTt	p.N430I	BORA_ENST00000377815.3_Missense_Mutation_p.N360I	NM_024808.2	NP_079084.2	Q6PGQ7	BORA_HUMAN	bora, aurora kinase A activator	430					G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|regulation of mitosis (GO:0007088)|regulation of mitotic spindle organization (GO:0060236)|regulation of protein localization (GO:0032880)	cytosol (GO:0005829)	protein kinase binding (GO:0019901)										GAGAAAGACAATAACACTGTG	0.413																																						dbGAP											0													169.0	156.0	160.0					13																	73321056		1928	4137	6065	-	-	-	SO:0001583	missense	0			BC025367	CCDS9446.1, CCDS66560.1, CCDS9446.2, CCDS73583.1	13q22.1	2013-08-13	2011-08-09	2011-08-09	ENSG00000136122	ENSG00000136122			24724	protein-coding gene	gene with protein product		610510	"""chromosome 13 open reading frame 34"""	C13orf34		16890155, 18378770, 18566290, 19487276	Standard	NM_001286746		Approved	FLJ22624	uc001viv.1	Q6PGQ7	OTTHUMG00000017068	ENST00000390667.5:c.1289A>T	13.37:g.73321056A>T	ENSP00000375082:p.Asn430Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	B4DQ30|Q5W0P3|Q5W0P4|Q86YC6|Q96IW9|Q9H640	Missense_Mutation	SNP	prints_Aurora_borealis_protien	p.N430I	ENST00000390667.5	37	c.1289	CCDS9446.1	13	.	.	.	.	.	.	.	.	.	.	A	16.83	3.229927	0.58777	.	.	ENSG00000136122	ENST00000377815;ENST00000390667	T;T	0.57595	0.39;0.39	5.5	4.32	0.51571	.	0.329786	0.38381	N	0.001712	T	0.65375	0.2685	M	0.63843	1.955	0.43462	D	0.995669	D;D;D;D	0.89917	1.0;0.989;0.999;0.989	D;P;D;P	0.67548	0.919;0.885;0.952;0.885	T	0.66504	-0.5907	10	0.87932	D	0	-21.0722	9.1935	0.37213	0.8535:0.0:0.1465:0.0	.	360;430;490;430	B4DQ30;A8K631;B5LMG6;Q6PGQ7	.;.;.;BORA_HUMAN	I	360;430	ENSP00000367046:N360I;ENSP00000375082:N430I	ENSP00000367046:N360I	N	+	2	0	BORA	72219057	1.000000	0.71417	0.846000	0.33378	0.702000	0.40608	3.891000	0.56227	0.924000	0.37069	0.533000	0.62120	AAT	BORA	-	NULL	ENSG00000136122		0.413	BORA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BORA	HGNC	protein_coding	OTTHUMT00000045245.3	281	0.00	0	A	NM_024808		73321056	73321056	+1	no_errors	ENST00000390667	ensembl	human	known	69_37n	missense	404	39.19	261	SNP	0.994	T
CALCR	799	genome.wustl.edu	37	7	93065277	93065278	+	Frame_Shift_Del	DEL	AG	AG	-			TCGA-AN-A03Y-01A-21W-A019-09	TCGA-AN-A03Y-10A-01W-A021-09	AG	AG					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	f4849adc-b6e8-40bd-9de4-dc5bb37d2a79	c75fcb7d-04da-4c92-a5cd-9a34a370773c	g.chr7:93065277_93065278delAG	ENST00000394441.1	-	11	1450_1451	c.1135_1136delCT	c.(1135-1137)ctgfs	p.L379fs	CALCR_ENST00000421592.1_Frame_Shift_Del_p.L395fs|CALCR_ENST00000359558.2_Frame_Shift_Del_p.L413fs|CALCR_ENST00000426151.1_Frame_Shift_Del_p.L379fs|CALCR_ENST00000360249.4_Frame_Shift_Del_p.L395fs	NM_001164738.1	NP_001158210.1	P30988	CALCR_HUMAN	calcitonin receptor	413					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|protein localization to plasma membrane (GO:0072659)|protein transport (GO:0015031)|receptor internalization (GO:0031623)|response to glucocorticoid (GO:0051384)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcitonin binding (GO:0032841)|calcitonin receptor activity (GO:0004948)|protein transporter activity (GO:0008565)|receptor activity (GO:0004872)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(3)	45	all_cancers(62;3.18e-12)|all_epithelial(64;1.34e-11)|Breast(17;0.000675)|Lung NSC(181;0.207)		STAD - Stomach adenocarcinoma(171;0.000244)		Pramlintide(DB01278)|Salmon Calcitonin(DB00017)	GAAATGAATCAGAGAGTGCATC	0.411																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			L00587	CCDS5631.1, CCDS55125.1	7q21.3	2012-08-10			ENSG00000004948	ENSG00000004948		"""GPCR / Class B : Calcitonin receptors"""	1440	protein-coding gene	gene with protein product		114131				1331173	Standard	NM_001742		Approved	CTR	uc003umw.2	P30988	OTTHUMG00000023599	ENST00000394441.1:c.1135_1136delCT	7.37:g.93065281_93065282delAG	ENSP00000377959:p.Leu379fs	Somatic		WXS	Illumina GAIIx	Phase_IV	A4D1G6|F5H605|O14585|Q13941|Q5ZGL8|Q659U6|Q6DJU8|Q6T712	Frame_Shift_Del	DEL	pfam_GPCR_2_secretin-like,pfam_GPCR_2_extracellular_dom,smart_GPCR_2_extracellular_dom,prints_GCPR_2_calcitonin_rcpt_fam,prints_GPCR_2_secretin-like,prints_GPCR_2_calcitonin_rcpt,pfscan_GPCR_2_extracellular_dom,pfscan_GPCR_2-like	p.L413fs	ENST00000394441.1	37	c.1238_1237	CCDS5631.1	7																																																																																			CALCR	-	pfam_GPCR_2_secretin-like,prints_GCPR_2_calcitonin_rcpt_fam,prints_GPCR_2_secretin-like,prints_GPCR_2_calcitonin_rcpt,pfscan_GPCR_2-like	ENSG00000004948		0.411	CALCR-002	NOVEL	basic|appris_principal|CCDS	protein_coding	CALCR	HGNC	protein_coding	OTTHUMT00000254661.2	56	0.00	0	AG	NM_001742		93065277	93065278	-1	no_errors	ENST00000359558	ensembl	human	known	69_37n	frame_shift_del	48	40.74	33	DEL	1.000:0.998	-
CDH1	999	genome.wustl.edu	37	16	68835596	68835596	+	Nonsense_Mutation	SNP	C	C	T	rs587783047		TCGA-AN-A03Y-01A-21W-A019-09	TCGA-AN-A03Y-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	f4849adc-b6e8-40bd-9de4-dc5bb37d2a79	c75fcb7d-04da-4c92-a5cd-9a34a370773c	g.chr16:68835596C>T	ENST00000261769.5	+	3	378	c.187C>T	c.(187-189)Cga>Tga	p.R63*	CDH1_ENST00000562836.1_3'UTR|CDH1_ENST00000422392.2_Nonsense_Mutation_p.R63*	NM_004360.3	NP_004351.1	P12830	CADH1_HUMAN	cadherin 1, type 1, E-cadherin (epithelial)	63					adherens junction organization (GO:0034332)|apoptotic process (GO:0006915)|calcium-dependent cell-cell adhesion (GO:0016339)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to amino acid stimulus (GO:0071230)|cellular response to indole-3-methanol (GO:0071681)|cellular response to lithium ion (GO:0071285)|cochlea development (GO:0090102)|epithelial cell morphogenesis (GO:0003382)|establishment of protein localization to plasma membrane (GO:0090002)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|homophilic cell adhesion (GO:0007156)|intestinal epithelial cell development (GO:0060576)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of epithelial cell proliferation (GO:0050680)|neuron projection development (GO:0031175)|pituitary gland development (GO:0021983)|positive regulation of transcription factor import into nucleus (GO:0042993)|positive regulation of transcription, DNA-templated (GO:0045893)|protein homooligomerization (GO:0051260)|protein localization to plasma membrane (GO:0072659)|protein metabolic process (GO:0019538)|regulation of branching involved in salivary gland morphogenesis (GO:0060693)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of immune response (GO:0050776)|regulation of neuron migration (GO:2001222)|regulation of protein localization to cell surface (GO:2000008)|regulation of water loss via skin (GO:0033561)|response to drug (GO:0042493)|response to toxic substance (GO:0009636)|salivary gland cavitation (GO:0060662)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|synapse assembly (GO:0007416)|tight junction assembly (GO:0070830)|trophectodermal cell differentiation (GO:0001829)	actin cytoskeleton (GO:0015629)|aggresome (GO:0016235)|apical junction complex (GO:0043296)|apical part of cell (GO:0045177)|axon terminus (GO:0043679)|basolateral plasma membrane (GO:0016323)|catenin complex (GO:0016342)|cell junction (GO:0030054)|cell surface (GO:0009986)|cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|endosome (GO:0005768)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|lateral loop (GO:0043219)|lateral plasma membrane (GO:0016328)|node of Ranvier (GO:0033268)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|Schmidt-Lanterman incisure (GO:0043220)|trans-Golgi network (GO:0005802)	ankyrin binding (GO:0030506)|beta-catenin binding (GO:0008013)|calcium ion binding (GO:0005509)|cell adhesion molecule binding (GO:0050839)|gamma-catenin binding (GO:0045295)|glycoprotein binding (GO:0001948)|GTPase activating protein binding (GO:0032794)	p.?(2)|p.R63G(1)|p.R63*(1)		NS(6)|biliary_tract(8)|breast(161)|central_nervous_system(4)|endometrium(9)|kidney(4)|large_intestine(13)|lung(13)|oesophagus(3)|ovary(2)|prostate(3)|soft_tissue(2)|stomach(76)|thyroid(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	311		all_neural(199;0.0189)|Ovarian(137;0.0563)		Epithelial(162;8.44e-05)|all cancers(182;0.000404)|OV - Ovarian serous cystadenocarcinoma(108;0.000426)|BRCA - Breast invasive adenocarcinoma(181;0.0261)		TTGCACCGGTCGACAAAGGAC	0.448			"""Mis, N, F, S"""		"""lobular breast, gastric"""	gastric			Hereditary Diffuse Gastric Cancer																													dbGAP	yes	Rec	yes	Familial gastric carcinoma	16	16q22.1	999	"""cadherin 1, type 1, E-cadherin (epithelial) (ECAD)"""		E	4	Unknown(2)|Substitution - Missense(1)|Substitution - Nonsense(1)	breast(3)|central_nervous_system(1)	GRCh37	CM980317	CDH1	M							164.0	153.0	156.0					16																	68835596		2198	4300	6498	-	-	-	SO:0001587	stop_gained	0	Familial Cancer Database	HDGC	L08599	CCDS10869.1	16q22.1	2014-09-17			ENSG00000039068	ENSG00000039068		"""CD molecules"", ""Cadherins / Major cadherins"""	1748	protein-coding gene	gene with protein product	"""E-Cadherin"""	192090		UVO		9925936	Standard	NM_004360		Approved	uvomorulin, CD324	uc002ewg.1	P12830	OTTHUMG00000137561	ENST00000261769.5:c.187C>T	16.37:g.68835596C>T	ENSP00000261769:p.Arg63*	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K1U7|Q13799|Q14216|Q15855|Q16194|Q4PJ14|Q9UII8	Nonsense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_cytoplasmic-dom,pfam_Cadherin_pro_dom,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.R63*	ENST00000261769.5	37	c.187	CCDS10869.1	16	.	.	.	.	.	.	.	.	.	.	C	28.3	4.910855	0.92178	.	.	ENSG00000039068	ENST00000261769;ENST00000379120;ENST00000268794;ENST00000422392	.	.	.	5.43	4.37	0.52481	.	0.335920	0.20846	N	0.084609	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.05525	T	0.97	.	14.645	0.68754	0.1811:0.8189:0.0:0.0	.	.	.	.	X	63	.	ENSP00000261769:R63X	R	+	1	2	CDH1	67393097	0.000000	0.05858	0.219000	0.23793	0.537000	0.34900	1.123000	0.31308	2.707000	0.92482	0.561000	0.74099	CGA	CDH1	-	pfam_Cadherin_pro_dom,superfamily_Cadherin-like	ENSG00000039068		0.448	CDH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CDH1	HGNC	protein_coding	OTTHUMT00000268897.2	134	0.00	0	C	NM_004360		68835596	68835596	+1	no_errors	ENST00000261769	ensembl	human	known	69_37n	nonsense	82	62.21	135	SNP	0.175	T
COL4A1	1282	genome.wustl.edu	37	13	110864808	110864808	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A03Y-01A-21W-A019-09	TCGA-AN-A03Y-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	f4849adc-b6e8-40bd-9de4-dc5bb37d2a79	c75fcb7d-04da-4c92-a5cd-9a34a370773c	g.chr13:110864808C>T	ENST00000375820.4	-	6	464	c.343G>A	c.(343-345)Ggc>Agc	p.G115S	COL4A1_ENST00000543140.1_Missense_Mutation_p.G115S	NM_001845.4	NP_001836.2	P02462	CO4A1_HUMAN	collagen, type IV, alpha 1	115					axon guidance (GO:0007411)|basement membrane organization (GO:0071711)|blood vessel morphogenesis (GO:0048514)|brain development (GO:0007420)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|epithelial cell differentiation (GO:0030855)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|neuromuscular junction development (GO:0007528)|patterning of blood vessels (GO:0001569)|renal tubule morphogenesis (GO:0061333)|retinal blood vessel morphogenesis (GO:0061304)	basement membrane (GO:0005604)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)	extracellular matrix constituent conferring elasticity (GO:0030023)|extracellular matrix structural constituent (GO:0005201)|platelet-derived growth factor binding (GO:0048407)			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(57)|ovary(4)|pancreas(1)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	105	all_cancers(4;9.8e-13)|all_epithelial(4;9.66e-08)|all_lung(23;3.75e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00178)|all_neural(89;0.00459)|Medulloblastoma(90;0.00596)|Lung SC(71;0.0604)	Breast(118;0.2)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.145)			CCTGGCGGGCCGTCTTGGCCA	0.453																																						dbGAP											0													121.0	143.0	136.0					13																	110864808		2203	4300	6503	-	-	-	SO:0001583	missense	0			J04217	CCDS9511.1	13q34	2013-09-05			ENSG00000187498	ENSG00000187498		"""Collagens"""	2202	protein-coding gene	gene with protein product		120130				3691802	Standard	NM_001845		Approved		uc001vqw.4	P02462	OTTHUMG00000017342	ENST00000375820.4:c.343G>A	13.37:g.110864808C>T	ENSP00000364979:p.Gly115Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	A7E2W4|B1AM70|Q1P9S9|Q5VWF6|Q86X41|Q8NF88|Q9NYC5	Missense_Mutation	SNP	pfam_Collagen,pfam_Collagen_VI_NC,superfamily_C-type_lectin_fold,smart_Collagen_VI_NC	p.G115S	ENST00000375820.4	37	c.343	CCDS9511.1	13	.	.	.	.	.	.	.	.	.	.	C	19.54	3.847040	0.71603	.	.	ENSG00000187498	ENST00000375815;ENST00000375820;ENST00000397198;ENST00000543140	D;D	0.99329	-5.75;-5.75	4.85	4.85	0.62838	.	0.000000	0.85682	D	0.000000	D	0.99684	0.9881	H	0.97983	4.12	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.97249	0.9896	10	0.72032	D	0.01	.	18.3564	0.90358	0.0:1.0:0.0:0.0	.	115;115	F5H5K0;P02462	.;CO4A1_HUMAN	S	115	ENSP00000364979:G115S;ENSP00000443348:G115S	ENSP00000364973:G115S	G	-	1	0	COL4A1	109662809	1.000000	0.71417	0.977000	0.42913	0.607000	0.37147	6.688000	0.74557	2.394000	0.81467	0.643000	0.83706	GGC	COL4A1	-	pfam_Collagen	ENSG00000187498		0.453	COL4A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	COL4A1	HGNC	protein_coding	OTTHUMT00000045759.3	173	0.00	0	C			110864808	110864808	-1	no_errors	ENST00000375820	ensembl	human	known	69_37n	missense	248	23.46	76	SNP	1.000	T
CST2	1470	genome.wustl.edu	37	20	23807084	23807084	+	Nonsense_Mutation	SNP	G	G	A	rs568411970		TCGA-AN-A03Y-01A-21W-A019-09	TCGA-AN-A03Y-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	f4849adc-b6e8-40bd-9de4-dc5bb37d2a79	c75fcb7d-04da-4c92-a5cd-9a34a370773c	g.chr20:23807084G>A	ENST00000304725.2	-	1	284	c.214C>T	c.(214-216)Cga>Tga	p.R72*		NM_001322.2	NP_001313.1	P09228	CYTT_HUMAN	cystatin SA	72					detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|negative regulation of endopeptidase activity (GO:0010951)	extracellular space (GO:0005615)	cysteine-type endopeptidase inhibitor activity (GO:0004869)	p.R72*(1)		breast(1)|cervix(1)|large_intestine(1)|liver(1)|lung(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	10						TCCCTGGCTCGTAGCACCCGC	0.562													N|||	1	0.000199681	0.0008	0.0	5008	,	,		18769	0.0		0.0	False		,,,				2504	0.0				Pancreas(193;496 3017 22514 29918)	dbGAP											1	Substitution - Nonsense(1)	breast(1)											81.0	67.0	72.0					20																	23807084		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			M19671	CCDS13161.1	20p11.2	2007-11-29			ENSG00000170369	ENSG00000170369			2474	protein-coding gene	gene with protein product	"""cystatin 2"""	123856					Standard	NM_001322		Approved		uc002wtq.1	P09228	OTTHUMG00000032086	ENST00000304725.2:c.214C>T	20.37:g.23807084G>A	ENSP00000307540:p.Arg72*	Somatic		WXS	Illumina GAIIx	Phase_IV	Q9UCQ7	Nonsense_Mutation	SNP	pfam_Prot_inh_cystat,smart_Prot_inh_cystat	p.R72*	ENST00000304725.2	37	c.214	CCDS13161.1	20	.	.	.	.	.	.	.	.	.	.	G	16.31	3.086520	0.55861	.	.	ENSG00000170369	ENST00000304725	.	.	.	2.0	-0.981	0.10269	.	0.764422	0.12167	N	0.493396	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	5.9276	0.19120	0.0:0.0:0.4291:0.5709	.	.	.	.	X	72	.	ENSP00000307540:R72X	R	-	1	2	CST2	23755084	0.000000	0.05858	0.005000	0.12908	0.114000	0.19823	-0.020000	0.12525	-0.390000	0.07774	0.298000	0.19748	CGA	CST2	-	pfam_Prot_inh_cystat,smart_Prot_inh_cystat	ENSG00000170369		0.562	CST2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CST2	HGNC	protein_coding	OTTHUMT00000078352.2	26	0.00	0	G			23807084	23807084	-1	no_errors	ENST00000304725	ensembl	human	known	69_37n	nonsense	30	39.22	20	SNP	0.007	A
DEPDC7	91614	genome.wustl.edu	37	11	33054005	33054005	+	Missense_Mutation	SNP	A	A	C			TCGA-AN-A03Y-01A-21W-A019-09	TCGA-AN-A03Y-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	f4849adc-b6e8-40bd-9de4-dc5bb37d2a79	c75fcb7d-04da-4c92-a5cd-9a34a370773c	g.chr11:33054005A>C	ENST00000241051.3	+	6	1210	c.1118A>C	c.(1117-1119)gAg>gCg	p.E373A	DEPDC7_ENST00000311388.3_Missense_Mutation_p.E364A	NM_001077242.1	NP_001070710.1	Q96QD5	DEPD7_HUMAN	DEP domain containing 7	373					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)				endometrium(2)|large_intestine(4)|lung(8)|ovary(1)|skin(2)	17						AATCCTTCTGAGTTTAAATTA	0.313																																						dbGAP											0													62.0	64.0	63.0					11																	33054005		1796	4065	5861	-	-	-	SO:0001583	missense	0				CCDS41632.1, CCDS41633.1	11p13	2006-03-24			ENSG00000121690	ENSG00000121690			29899	protein-coding gene	gene with protein product		612294				10568747	Standard	NM_001077242		Approved		uc001mub.3	Q96QD5	OTTHUMG00000166242	ENST00000241051.3:c.1118A>C	11.37:g.33054005A>C	ENSP00000241051:p.Glu373Ala	Somatic		WXS	Illumina GAIIx	Phase_IV	G5E941|Q8N602|Q8NCU9|Q9UGK5	Missense_Mutation	SNP	pfam_DEP_dom,smart_DEP_dom,pfscan_DEP_dom	p.E373A	ENST00000241051.3	37	c.1118	CCDS41632.1	11	.	.	.	.	.	.	.	.	.	.	A	11.67	1.707615	0.30322	.	.	ENSG00000121690	ENST00000241051;ENST00000311388	D;D	0.84442	-1.85;-1.85	5.66	5.66	0.87406	.	0.045347	0.85682	D	0.000000	D	0.85588	0.5731	L	0.35288	1.05	0.58432	D	0.999991	P;D	0.67145	0.774;0.996	B;P	0.60609	0.334;0.877	T	0.81803	-0.0765	10	0.10902	T	0.67	-1.6889	15.8881	0.79269	1.0:0.0:0.0:0.0	.	364;373	G5E941;Q96QD5	.;DEPD7_HUMAN	A	373;364	ENSP00000241051:E373A;ENSP00000308971:E364A	ENSP00000241051:E373A	E	+	2	0	DEPDC7	33010581	1.000000	0.71417	0.999000	0.59377	0.925000	0.55904	8.875000	0.92372	2.145000	0.66743	0.374000	0.22700	GAG	DEPDC7	-	NULL	ENSG00000121690		0.313	DEPDC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DEPDC7	HGNC	protein_coding	OTTHUMT00000388655.1	162	0.00	0	A	NM_139160		33054005	33054005	+1	no_errors	ENST00000241051	ensembl	human	known	69_37n	missense	99	51.47	105	SNP	1.000	C
FCGBP	8857	genome.wustl.edu	37	19	40383695	40383695	+	Silent	SNP	T	T	C			TCGA-AN-A03Y-01A-21W-A019-09	TCGA-AN-A03Y-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	f4849adc-b6e8-40bd-9de4-dc5bb37d2a79	c75fcb7d-04da-4c92-a5cd-9a34a370773c	g.chr19:40383695T>C	ENST00000221347.6	-	21	9922	c.9915A>G	c.(9913-9915)ggA>ggG	p.G3305G		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	3305	VWFD 8. {ECO:0000255|PROSITE- ProRule:PRU00580}.					extracellular vesicular exosome (GO:0070062)				NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			CCAAGGGTGGTCCGTGGCAGG	0.602																																						dbGAP											0													1.0	1.0	1.0					19																	40383695		147	725	872	-	-	-	SO:0001819	synonymous_variant	0			D84239		19q13.2	2013-09-20			ENSG00000090920	ENSG00000275395			13572	protein-coding gene	gene with protein product	"""IgG Fc binding protein"", ""Human Fc gamma BP"""					9182547	Standard	NM_003890		Approved	FC(GAMMA)BP	uc002omp.4	Q9Y6R7	OTTHUMG00000182580	ENST00000221347.6:c.9915A>G	19.37:g.40383695T>C		Somatic		WXS	Illumina GAIIx	Phase_IV	O95784	Silent	SNP	pfam_VWF_type-D,pfam_Unchr_dom_Cys-rich,pfam_TIL_dom,superfamily_TIL_dom,smart_Fol_N,smart_VWF_type-D,smart_Unchr_dom_Cys-rich,smart_EGF-like,smart_VWF_C,smart_VWC_out	p.G3305	ENST00000221347.6	37	c.9915	CCDS12546.1	19																																																																																			FCGBP	-	pfam_VWF_type-D,smart_VWF_type-D	ENSG00000090920		0.602	FCGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FCGBP	HGNC	protein_coding	OTTHUMT00000462507.1	22	0.00	0	T	NM_003890		40383695	40383695	-1	no_errors	ENST00000221347	ensembl	human	known	69_37n	silent	20	16.00	4	SNP	0.000	C
HIF1A	3091	genome.wustl.edu	37	14	62187184	62187184	+	Silent	SNP	T	T	C	rs368589454		TCGA-AN-A03Y-01A-21W-A019-09	TCGA-AN-A03Y-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	f4849adc-b6e8-40bd-9de4-dc5bb37d2a79	c75fcb7d-04da-4c92-a5cd-9a34a370773c	g.chr14:62187184T>C	ENST00000337138.4	+	2	385	c.120T>C	c.(118-120)ctT>ctC	p.L40L	HIF1A_ENST00000539097.1_Silent_p.L64L|HIF1A_ENST00000557206.1_3'UTR|HIF1A_ENST00000557538.1_5'UTR|HIF1A-AS2_ENST00000554254.1_lincRNA|HIF1A_ENST00000323441.6_Silent_p.L40L|HIF1A_ENST00000394997.1_Silent_p.L41L	NM_001530.3	NP_001521.1	Q16665	HIF1A_HUMAN	hypoxia inducible factor 1, alpha subunit (basic helix-loop-helix transcription factor)	40	Interaction with TSGA10. {ECO:0000250}.|bHLH. {ECO:0000255|PROSITE- ProRule:PRU00981}.				angiogenesis (GO:0001525)|axon transport of mitochondrion (GO:0019896)|B-1 B cell homeostasis (GO:0001922)|cardiac ventricle morphogenesis (GO:0003208)|cartilage development (GO:0051216)|cellular iron ion homeostasis (GO:0006879)|cellular response to hypoxia (GO:0071456)|cellular response to interleukin-1 (GO:0071347)|cerebral cortex development (GO:0021987)|collagen metabolic process (GO:0032963)|connective tissue replacement involved in inflammatory response wound healing (GO:0002248)|digestive tract morphogenesis (GO:0048546)|dopaminergic neuron differentiation (GO:0071542)|elastin metabolic process (GO:0051541)|embryonic hemopoiesis (GO:0035162)|embryonic placenta development (GO:0001892)|epithelial cell differentiation involved in mammary gland alveolus development (GO:0061030)|epithelial to mesenchymal transition (GO:0001837)|glucose homeostasis (GO:0042593)|heart looping (GO:0001947)|hemoglobin biosynthetic process (GO:0042541)|intestinal epithelial cell maturation (GO:0060574)|lactate metabolic process (GO:0006089)|lactation (GO:0007595)|mRNA transcription from RNA polymerase II promoter (GO:0042789)|muscle cell cellular homeostasis (GO:0046716)|negative regulation of bone mineralization (GO:0030502)|negative regulation of growth (GO:0045926)|negative regulation of mesenchymal cell apoptotic process (GO:2001054)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway (GO:1903377)|negative regulation of thymocyte apoptotic process (GO:0070244)|negative regulation of TOR signaling (GO:0032007)|neural crest cell migration (GO:0001755)|neural fold elevation formation (GO:0021502)|Notch signaling pathway (GO:0007219)|outflow tract morphogenesis (GO:0003151)|oxygen homeostasis (GO:0032364)|positive regulation of angiogenesis (GO:0045766)|positive regulation of chemokine production (GO:0032722)|positive regulation of chemokine-mediated signaling pathway (GO:0070101)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of epithelial cell migration (GO:0010634)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of glycolytic process (GO:0045821)|positive regulation of hormone biosynthetic process (GO:0046886)|positive regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0035774)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of receptor biosynthetic process (GO:0010870)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061419)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of gene expression (GO:0010468)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0043619)|regulation of transcription, DNA-templated (GO:0006355)|regulation of transforming growth factor beta2 production (GO:0032909)|response to hypoxia (GO:0001666)|response to muscle activity (GO:0014850)|retina vasculature development in camera-type eye (GO:0061298)|signal transduction (GO:0007165)|vascular endothelial growth factor production (GO:0010573)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|motile cilium (GO:0031514)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|Hsp90 protein binding (GO:0051879)|nuclear hormone receptor binding (GO:0035257)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|transcription factor binding (GO:0008134)|transcription factor binding transcription factor activity (GO:0000989)|ubiquitin protein ligase binding (GO:0031625)			breast(2)|endometrium(8)|kidney(6)|large_intestine(3)|lung(4)	23				OV - Ovarian serous cystadenocarcinoma(108;1.62e-09)|BRCA - Breast invasive adenocarcinoma(234;0.189)	Carvedilol(DB01136)	TTTATGAGCTTGCTCATCAGT	0.428																																						dbGAP											0													109.0	104.0	106.0					14																	62187184		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			U22431	CCDS9753.1, CCDS9754.1, CCDS58324.1	14q23.2	2013-05-21	2008-12-02		ENSG00000100644	ENSG00000100644		"""Basic helix-loop-helix proteins"""	4910	protein-coding gene	gene with protein product		603348				8786149, 9079689	Standard	NM_001530		Approved	MOP1, HIF-1alpha, PASD8, HIF1, bHLHe78	uc001xfq.2	Q16665	OTTHUMG00000140344	ENST00000337138.4:c.120T>C	14.37:g.62187184T>C		Somatic		WXS	Illumina GAIIx	Phase_IV	C0LZJ3|Q53XP6|Q96PT9|Q9UPB1	Silent	SNP	pfam_PAS_fold_3,pfam_HIF-1_TAD_C,pfam_HIF_alpha_subunit,pfam_PAS_fold,superfamily_HLH_DNA-bd,smart_HLH_DNA-bd,smart_PAS,smart_PAC,pfscan_PAS,pfscan_HLH_DNA-bd,prints_HIF-1_alpha,tigrfam_PAS	p.L64	ENST00000337138.4	37	c.192	CCDS9753.1	14																																																																																			HIF1A	-	superfamily_HLH_DNA-bd,smart_HLH_DNA-bd,pfscan_HLH_DNA-bd	ENSG00000100644		0.428	HIF1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	HIF1A	HGNC	protein_coding	OTTHUMT00000276977.2	189	0.00	0	T	NM_001530		62187184	62187184	+1	no_errors	ENST00000539097	ensembl	human	known	69_37n	silent	121	46.02	104	SNP	1.000	C
HIST1H1T	3010	genome.wustl.edu	37	6	26107849	26107849	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A03Y-01A-21W-A019-09	TCGA-AN-A03Y-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	f4849adc-b6e8-40bd-9de4-dc5bb37d2a79	c75fcb7d-04da-4c92-a5cd-9a34a370773c	g.chr6:26107849G>A	ENST00000338379.4	-	1	515	c.473C>T	c.(472-474)gCg>gTg	p.A158V		NM_005323.3	NP_005314.2	P22492	H1T_HUMAN	histone cluster 1, H1t	158					binding of sperm to zona pellucida (GO:0007339)|cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|nucleosome assembly (GO:0006334)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)	condensed nuclear chromosome (GO:0000794)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(2)|endometrium(1)|lung(3)|ovary(2)|prostate(1)	9						AGGAGTTGTCGCTCTCGGCTT	0.478																																						dbGAP											0													133.0	124.0	127.0					6																	26107849		2203	4300	6503	-	-	-	SO:0001583	missense	0			M60094	CCDS34349.1	6p22.1	2011-01-27	2006-10-11	2003-02-21	ENSG00000187475	ENSG00000187475		"""Histones / Replication-dependent"""	4720	protein-coding gene	gene with protein product		142712	"""H1 histone family, member T (testis-specific)"", ""histone 1, H1t"""	H1FT		8175896, 12408966	Standard	NM_005323		Approved	H1t	uc003ngj.3	P22492	OTTHUMG00000014430	ENST00000338379.4:c.473C>T	6.37:g.26107849G>A	ENSP00000341214:p.Ala158Val	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6ISI1|Q8IUE8	Missense_Mutation	SNP	pfam_Histone_H1/H5,smart_Histone_H1/H5,prints_Histone_H5	p.A158V	ENST00000338379.4	37	c.473	CCDS34349.1	6	.	.	.	.	.	.	.	.	.	.	.	12.27	1.886746	0.33348	.	.	ENSG00000187475	ENST00000338379	T	0.06687	3.27	5.08	-2.9	0.05648	.	0.309258	0.29119	N	0.013096	T	0.00724	0.0024	N	0.08118	0	0.09310	N	1	B	0.29508	0.246	B	0.16289	0.015	T	0.45145	-0.9281	10	0.29301	T	0.29	.	1.5139	0.02502	0.2004:0.106:0.3364:0.3572	.	158	P22492	H1T_HUMAN	V	158	ENSP00000341214:A158V	ENSP00000341214:A158V	A	-	2	0	HIST1H1T	26215828	0.000000	0.05858	0.000000	0.03702	0.011000	0.07611	0.496000	0.22499	-0.510000	0.06523	0.655000	0.94253	GCG	HIST1H1T	-	NULL	ENSG00000187475		0.478	HIST1H1T-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIST1H1T	HGNC	protein_coding	OTTHUMT00000040093.2	148	0.00	0	G	NM_005323		26107849	26107849	-1	no_errors	ENST00000338379	ensembl	human	known	69_37n	missense	193	36.51	111	SNP	0.000	A
HIST1H3G	8355	genome.wustl.edu	37	6	26271482	26271482	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A03Y-01A-21W-A019-09	TCGA-AN-A03Y-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	f4849adc-b6e8-40bd-9de4-dc5bb37d2a79	c75fcb7d-04da-4c92-a5cd-9a34a370773c	g.chr6:26271482G>A	ENST00000305910.3	-	1	130	c.131C>T	c.(130-132)cCc>cTc	p.P44L	HIST1H2BI_ENST00000377733.2_5'Flank	NM_003534.2	NP_003525.1	P68431	H31_HUMAN	histone cluster 1, H3g	44					blood coagulation (GO:0007596)|chromatin organization (GO:0006325)|DNA replication-dependent nucleosome assembly (GO:0006335)|regulation of gene silencing (GO:0060968)	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)			breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	12						CACGGTGCCGGGACGGTAGCG	0.642																																						dbGAP											0													51.0	55.0	53.0					6																	26271482		2203	4300	6503	-	-	-	SO:0001583	missense	0			Z80785	CCDS4602.1	6p22.1	2011-07-22	2006-10-11	2003-03-14	ENSG00000256018			"""Histones / Replication-dependent"""	4772	protein-coding gene	gene with protein product		602815	"""H3 histone family, member H"", ""histone 1, H3g"""	H3FH		9119399, 12408966	Standard	NM_003534		Approved	H3/h	uc003nhi.3	P68431	OTTHUMG00000014436	ENST00000305910.3:c.131C>T	6.37:g.26271482G>A	ENSP00000439660:p.Pro44Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	A0PJT7|A5PLR1|P02295|P02296|P16106|Q6ISV8|Q6NWP8|Q6NWP9|Q6NXU4|Q71DJ3|Q93081	Missense_Mutation	SNP	pfam_Histone_core_D,superfamily_Histone-fold,smart_Histone_H3,prints_Histone_H3	p.P44L	ENST00000305910.3	37	c.131	CCDS4602.1	6	.	.	.	.	.	.	.	.	.	.	.	15.11	2.734967	0.48939	.	.	ENSG00000256018	ENST00000305910	T	0.47528	0.84	4.42	4.42	0.53409	.	.	.	.	.	T	0.56321	0.1977	.	.	.	0.53688	D	0.999978	.	.	.	.	.	.	T	0.62576	-0.6825	6	0.66056	D	0.02	.	16.4001	0.83637	0.0:0.0:1.0:0.0	.	.	.	.	L	44	ENSP00000439660:P44L	ENSP00000439660:P44L	P	-	2	0	HIST1H3G	26379461	1.000000	0.71417	0.998000	0.56505	0.033000	0.12548	9.527000	0.98044	2.183000	0.69458	0.563000	0.77884	CCC	HIST1H3G	-	superfamily_Histone-fold,smart_Histone_H3,prints_Histone_H3	ENSG00000256018		0.642	HIST1H3G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	HIST1H3G	HGNC	protein_coding	OTTHUMT00000040099.2	83	0.00	0	G	NM_003534		26271482	26271482	-1	no_errors	ENST00000305910	ensembl	human	known	69_37n	missense	99	34.00	51	SNP	1.000	A
HLTF	6596	genome.wustl.edu	37	3	148750058	148750058	+	Silent	SNP	G	G	A	rs548576604		TCGA-AN-A03Y-01A-21W-A019-09	TCGA-AN-A03Y-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	f4849adc-b6e8-40bd-9de4-dc5bb37d2a79	c75fcb7d-04da-4c92-a5cd-9a34a370773c	g.chr3:148750058G>A	ENST00000310053.5	-	25	3172	c.2979C>T	c.(2977-2979)gaC>gaT	p.D993D	HLTF_ENST00000392912.2_Silent_p.D993D|HLTF_ENST00000465259.1_Silent_p.D992D|HLTF_ENST00000494055.1_Silent_p.D993D	NM_003071.3|NM_139048.2	NP_003062.2|NP_620636.1	Q14527	HLTF_HUMAN	helicase-like transcription factor	993	Helicase C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00542}.|Interaction with SP1 and SP3.				chromatin modification (GO:0016568)|protein ubiquitination (GO:0016567)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|ligase activity (GO:0016874)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(2)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(18)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)	47			LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)			GTTTCATTTCGTCAGCATTTG	0.313													G|||	1	0.000199681	0.0	0.0	5008	,	,		15232	0.0		0.0	False		,,,				2504	0.001					dbGAP											0													121.0	112.0	115.0					3																	148750058		2202	4296	6498	-	-	-	SO:0001819	synonymous_variant	0			L34673	CCDS33875.1	3q25.1-q26.1	2006-11-09	2006-11-09	2006-11-09	ENSG00000071794	ENSG00000071794		"""RING-type (C3HC4) zinc fingers"""	11099	protein-coding gene	gene with protein product		603257	"""SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 3"""	SNF2L3, SMARCA3		7558014	Standard	NM_139048		Approved	HIP116A, HLTF1, RNF80	uc003ewr.1	Q14527	OTTHUMG00000159534	ENST00000310053.5:c.2979C>T	3.37:g.148750058G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	D3DNH3|Q14536|Q16051|Q7KYJ6|Q86YA5|Q92652|Q96KM9	Silent	SNP	pfam_SNF2_N,pfam_HIP116_Rad5p_N,pfam_Helicase_C,smart_HIP116_Rad5p_N,smart_Helicase_ATP-bd,smart_Znf_RING,smart_Helicase_C,pfscan_Znf_RING,pfscan_Helicase_ATP-bd,pfscan_Helicase_C	p.D993	ENST00000310053.5	37	c.2979	CCDS33875.1	3																																																																																			HLTF	-	pfscan_Helicase_C	ENSG00000071794		0.313	HLTF-003	KNOWN	alternative_3_UTR|basic|appris_candidate_longest|CCDS	protein_coding	HLTF	HGNC	protein_coding	OTTHUMT00000356064.1	70	0.00	0	G			148750058	148750058	-1	no_errors	ENST00000310053	ensembl	human	known	69_37n	silent	71	16.47	14	SNP	0.956	A
HRASLS	57110	genome.wustl.edu	37	3	192988399	192988399	+	Silent	SNP	C	C	A	rs151296838		TCGA-AN-A03Y-01A-21W-A019-09	TCGA-AN-A03Y-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	f4849adc-b6e8-40bd-9de4-dc5bb37d2a79	c75fcb7d-04da-4c92-a5cd-9a34a370773c	g.chr3:192988399C>A	ENST00000602513.1	+	4	821	c.412C>A	c.(412-414)Cga>Aga	p.R138R	HRASLS_ENST00000264735.2_Silent_p.R243R			Q9HDD0	HRSL1_HUMAN	HRAS-like suppressor	138					ether lipid metabolic process (GO:0046485)|lipid catabolic process (GO:0016042)|peroxisome organization (GO:0007031)	integral component of membrane (GO:0016021)|nuclear envelope lumen (GO:0005641)|peroxisome (GO:0005777)	phospholipase activity (GO:0004620)|transferase activity (GO:0016740)			breast(1)|large_intestine(2)|lung(4)|prostate(1)|skin(2)	10	all_cancers(143;9.1e-09)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;5.56e-18)|LUSC - Lung squamous cell carcinoma(58;6.08e-06)|Lung(62;6.49e-06)	GBM - Glioblastoma multiforme(46;0.000159)		ATAGGCCAACCGAGCGATAAG	0.383																																						dbGAP											0													158.0	140.0	146.0					3																	192988399		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB030816	CCDS3303.1, CCDS3303.2	3q29	2008-05-15			ENSG00000127252	ENSG00000127252			14922	protein-coding gene	gene with protein product		606487					Standard	NM_020386		Approved	H-REV107, HRASLS1	uc003fta.4	Q9HDD0	OTTHUMG00000156104	ENST00000602513.1:c.412C>A	3.37:g.192988399C>A		Somatic		WXS	Illumina GAIIx	Phase_IV	D2KX19	Silent	SNP	pfam_LRAT-like_dom	p.R138	ENST00000602513.1	37	c.412		3																																																																																			HRASLS	-	pfam_LRAT-like_dom	ENSG00000127252		0.383	HRASLS-201	KNOWN	basic|appris_principal	protein_coding	HRASLS	HGNC	protein_coding		98	0.00	0	C			192988399	192988399	+1	no_errors	ENST00000264735	ensembl	human	known	69_37n	silent	124	26.63	45	SNP	1.000	A
KIF7	374654	genome.wustl.edu	37	15	90185484	90185484	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A03Y-01A-21W-A019-09	TCGA-AN-A03Y-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	f4849adc-b6e8-40bd-9de4-dc5bb37d2a79	c75fcb7d-04da-4c92-a5cd-9a34a370773c	g.chr15:90185484G>A	ENST00000394412.3	-	11	2420	c.2344C>T	c.(2344-2346)Cgg>Tgg	p.R782W		NM_198525.2	NP_940927.2	Q2M1P5	KIF7_HUMAN	kinesin family member 7	782					ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|negative regulation of smoothened signaling pathway (GO:0045879)|positive regulation of smoothened signaling pathway (GO:0045880)|smoothened signaling pathway (GO:0007224)|ventricular system development (GO:0021591)	cilium (GO:0005929)|kinesin complex (GO:0005871)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			central_nervous_system(2)|cervix(1)|endometrium(2)|large_intestine(5)|lung(11)|ovary(2)|stomach(1)|urinary_tract(1)	25	Lung NSC(78;0.0237)|all_lung(78;0.0478)		BRCA - Breast invasive adenocarcinoma(143;0.128)			TCCTGGAGCCGAGACCGCTCG	0.692																																						dbGAP											0													24.0	25.0	25.0					15																	90185484		2198	4296	6494	-	-	-	SO:0001583	missense	0			AY358384	CCDS32325.2	15q26.1	2011-06-02			ENSG00000166813	ENSG00000166813		"""Kinesins"""	30497	protein-coding gene	gene with protein product		611254				11416179, 15547730	Standard	NM_198525		Approved	JBTS12	uc002bof.2	Q2M1P5	OTTHUMG00000157177	ENST00000394412.3:c.2344C>T	15.37:g.90185484G>A	ENSP00000377934:p.Arg782Trp	Somatic		WXS	Illumina GAIIx	Phase_IV	Q3SXY0|Q6UXE9|Q8IW72	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.R782W	ENST00000394412.3	37	c.2344	CCDS32325.2	15	.	.	.	.	.	.	.	.	.	.	g	14.48	2.547675	0.45383	.	.	ENSG00000166813	ENST00000394412	T	0.48836	0.8	4.87	3.92	0.45320	.	0.315936	0.33712	N	0.004633	T	0.52757	0.1754	L	0.55481	1.735	0.26720	N	0.970793	D;D	0.71674	0.998;0.99	P;B	0.52554	0.702;0.425	T	0.50792	-0.8786	10	0.72032	D	0.01	.	11.7121	0.51630	0.0:0.0:0.4856:0.5144	.	268;782	B7ZKY4;Q2M1P5	.;KIF7_HUMAN	W	782	ENSP00000377934:R782W	ENSP00000377934:R782W	R	-	1	2	KIF7	87986488	1.000000	0.71417	0.976000	0.42696	0.861000	0.49209	2.500000	0.45381	0.959000	0.37980	0.306000	0.20318	CGG	KIF7	-	NULL	ENSG00000166813		0.692	KIF7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF7	HGNC	protein_coding	OTTHUMT00000347782.1	15	0.00	0	G	NM_198525		90185484	90185484	-1	no_errors	ENST00000394412	ensembl	human	known	69_37n	missense	13	38.10	8	SNP	0.986	A
LGI1	9211	genome.wustl.edu	37	10	95557009	95557009	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A03Y-01A-21W-A019-09	TCGA-AN-A03Y-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	f4849adc-b6e8-40bd-9de4-dc5bb37d2a79	c75fcb7d-04da-4c92-a5cd-9a34a370773c	g.chr10:95557009G>A	ENST00000371418.4	+	8	1383	c.1123G>A	c.(1123-1125)Gcg>Acg	p.A375T	LGI1_ENST00000542308.1_Missense_Mutation_p.A327T|LGI1_ENST00000371413.3_Intron	NM_005097.2	NP_005088.1	O95970	LGI1_HUMAN	leucine-rich, glioma inactivated 1	375					axon guidance (GO:0007411)|cell proliferation (GO:0008283)|nervous system development (GO:0007399)|neuron projection development (GO:0031175)|positive regulation of cell growth (GO:0030307)|positive regulation of synaptic transmission (GO:0050806)|protein homooligomerization (GO:0051260)	cell junction (GO:0030054)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|synapse (GO:0045202)	receptor binding (GO:0005102)			central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(18)|ovary(2)|skin(1)	29		Colorectal(252;0.124)				ATCCTTACACGCGTGGTACAG	0.428																																						dbGAP											0													90.0	82.0	85.0					10																	95557009		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF055636	CCDS7431.1	10q24	2008-08-01	2002-06-05		ENSG00000108231	ENSG00000108231			6572	protein-coding gene	gene with protein product		604619	"""epilepsy, partial"""	EPT		9879993, 11978770, 15079011	Standard	NM_005097		Approved	IB1099, ETL1, EPITEMPIN	uc001kjc.4	O95970	OTTHUMG00000018777	ENST00000371418.4:c.1123G>A	10.37:g.95557009G>A	ENSP00000360472:p.Ala375Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K0Z1|B4E1S0|Q5W001|Q5W002|Q8NI23|Q96LF5	Missense_Mutation	SNP	pfam_EPTP,pfam_Leu-rich_rpt,superfamily_WD40_repeat_dom,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,pfscan_EAR	p.A375T	ENST00000371418.4	37	c.1123	CCDS7431.1	10	.	.	.	.	.	.	.	.	.	.	G	12.10	1.837794	0.32513	.	.	ENSG00000108231	ENST00000542308;ENST00000371418	T;T	0.76578	-1.03;-0.15	4.93	3.99	0.46301	.	0.230585	0.44483	D	0.000459	T	0.70281	0.3206	L	0.43152	1.355	0.37535	D	0.918064	B;B	0.24132	0.098;0.01	B;B	0.21151	0.033;0.025	T	0.69194	-0.5209	10	0.25106	T	0.35	-7.4279	16.7577	0.85504	0.0:0.1396:0.8604:0.0	.	327;375	O95970-3;O95970	.;LGI1_HUMAN	T	327;375	ENSP00000440763:A327T;ENSP00000360472:A375T	ENSP00000360472:A375T	A	+	1	0	LGI1	95546999	0.997000	0.39634	0.973000	0.42090	0.968000	0.65278	4.691000	0.61738	2.567000	0.86603	0.655000	0.94253	GCG	LGI1	-	pfam_EPTP,superfamily_WD40_repeat_dom	ENSG00000108231		0.428	LGI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LGI1	HGNC	protein_coding	OTTHUMT00000049445.1	168	0.00	0	G	NM_005097		95557009	95557009	+1	no_errors	ENST00000371418	ensembl	human	known	69_37n	missense	129	43.42	99	SNP	0.725	A
NEDD4L	23327	genome.wustl.edu	37	18	56063421	56063421	+	Missense_Mutation	SNP	C	C	G			TCGA-AN-A03Y-01A-21W-A019-09	TCGA-AN-A03Y-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	f4849adc-b6e8-40bd-9de4-dc5bb37d2a79	c75fcb7d-04da-4c92-a5cd-9a34a370773c	g.chr18:56063421C>G	ENST00000400345.3	+	31	3131	c.2848C>G	c.(2848-2850)Cca>Gca	p.P950A	RP11-845C23.3_ENST00000590318.1_RNA|NEDD4L_ENST00000356462.6_Missense_Mutation_p.P886A|NEDD4L_ENST00000382850.4_Missense_Mutation_p.P930A|NEDD4L_ENST00000431212.2_Missense_Mutation_p.P829A|NEDD4L_ENST00000357895.5_Missense_Mutation_p.P942A|NEDD4L_ENST00000589054.1_Missense_Mutation_p.P81A|NEDD4L_ENST00000256832.7_Missense_Mutation_p.P810A|NEDD4L_ENST00000586263.1_Missense_Mutation_p.P922A|NEDD4L_ENST00000256830.9_Missense_Mutation_p.P846A|NEDD4L_ENST00000456173.2_Missense_Mutation_p.P809A|NEDD4L_ENST00000456986.1_Missense_Mutation_p.P829A|NEDD4L_ENST00000435432.2_Missense_Mutation_p.P809A	NM_001144967.2	NP_001138439.1	Q96PU5	NED4L_HUMAN	neural precursor cell expressed, developmentally down-regulated 4-like, E3 ubiquitin protein ligase	950	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				cellular sodium ion homeostasis (GO:0006883)|excretion (GO:0007588)|gene expression (GO:0010467)|ion transmembrane transport (GO:0034220)|negative regulation of potassium ion transmembrane transport (GO:1901380)|negative regulation of potassium ion transmembrane transporter activity (GO:1901017)|negative regulation of protein localization to cell surface (GO:2000009)|negative regulation of sodium ion transmembrane transport (GO:1902306)|negative regulation of sodium ion transmembrane transporter activity (GO:2000650)|negative regulation of systemic arterial blood pressure (GO:0003085)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|positive regulation of cation channel activity (GO:2001259)|positive regulation of caveolin-mediated endocytosis (GO:2001288)|positive regulation of endocytosis (GO:0045807)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of sodium ion transport (GO:0010765)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein K48-linked ubiquitination (GO:0070936)|protein monoubiquitination (GO:0006513)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of ion transmembrane transport (GO:0034765)|regulation of membrane depolarization (GO:0003254)|regulation of membrane potential (GO:0042391)|regulation of membrane repolarization (GO:0060306)|regulation of potassium ion transmembrane transporter activity (GO:1901016)|regulation of protein catabolic process (GO:0042176)|regulation of tight junction assembly (GO:2000810)|response to metal ion (GO:0010038)|response to salt stress (GO:0009651)|sodium ion transport (GO:0006814)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|transmembrane transport (GO:0055085)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)|ventricular cardiac muscle cell action potential (GO:0086005)|viral life cycle (GO:0019058)|viral process (GO:0016032)|water homeostasis (GO:0030104)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ion channel binding (GO:0044325)|ligase activity (GO:0016874)|potassium channel inhibitor activity (GO:0019870)|potassium channel regulator activity (GO:0015459)|sodium channel inhibitor activity (GO:0019871)|sodium channel regulator activity (GO:0017080)|ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(7)|kidney(3)|large_intestine(10)|lung(11)|ovary(1)|prostate(4)	37						TGACTTACCTCCATATGAAAC	0.453																																						dbGAP											0													128.0	109.0	115.0					18																	56063421		1865	4111	5976	-	-	-	SO:0001583	missense	0			AF210730	CCDS45872.1, CCDS45873.1, CCDS45874.1, CCDS45875.1, CCDS45876.1, CCDS58632.1, CCDS59323.1	18q21.31	2014-08-12	2012-02-23		ENSG00000049759				7728	protein-coding gene	gene with protein product		606384	"""neural precursor cell expressed, developmentally down-regulated 4-like"""			10594025, 11244092, 18322022	Standard	NM_001144965		Approved	KIAA0439, RSP5, NEDD4-2	uc002lgy.3	Q96PU5	OTTHUMG00000179875	ENST00000400345.3:c.2848C>G	18.37:g.56063421C>G	ENSP00000383199:p.Pro950Ala	Somatic		WXS	Illumina GAIIx	Phase_IV	O43165|Q3LSM7|Q7Z5F1|Q7Z5F2|Q7Z5N3|Q8N5A7|Q8WUU9|Q9BW58|Q9H2W4|Q9NT88	Missense_Mutation	SNP	pfam_HECT,pfam_WW_Rsp5_WWP,pfam_C2_Ca-dep,superfamily_HECT,superfamily_C2_Ca/lipid-bd_dom_CaLB,superfamily_WW_Rsp5_WWP,smart_C2_Ca-dep,smart_WW_Rsp5_WWP,smart_HECT,pfscan_HECT,pfscan_C2_membr_targeting,pfscan_WW_Rsp5_WWP,prints_C2_dom	p.P950A	ENST00000400345.3	37	c.2848	CCDS45872.1	18	.	.	.	.	.	.	.	.	.	.	C	15.24	2.775675	0.49786	.	.	ENSG00000049759	ENST00000400345;ENST00000382850;ENST00000356462;ENST00000256830;ENST00000256832;ENST00000456986;ENST00000357895;ENST00000435432;ENST00000456173;ENST00000431212	T;T;T;T;T;T;T;T;T;T	0.58358	0.34;0.34;0.34;0.34;0.34;0.34;0.34;0.34;0.34;0.34	5.77	5.77	0.91146	HECT (4);	0.207947	0.50627	D	0.000116	T	0.54431	0.1858	L	0.55481	1.735	0.53005	D	0.999969	B;B;B;B;B;B	0.22211	0.066;0.038;0.01;0.003;0.018;0.066	B;B;B;B;B;B	0.23852	0.037;0.015;0.01;0.004;0.041;0.049	T	0.52230	-0.8603	10	0.87932	D	0	.	20.3472	0.98799	0.0:1.0:0.0:0.0	.	922;942;809;886;950;930	Q96PU5-6;Q96PU5-7;Q3LSM7;Q96PU5-2;Q96PU5;Q96PU5-5	.;.;.;.;NED4L_HUMAN;.	A	950;930;886;846;810;829;942;809;809;829	ENSP00000383199:P950A;ENSP00000372301:P930A;ENSP00000348847:P886A;ENSP00000256830:P846A;ENSP00000256832:P810A;ENSP00000411947:P829A;ENSP00000350569:P942A;ENSP00000393395:P809A;ENSP00000405440:P809A;ENSP00000389406:P829A	ENSP00000256830:P846A	P	+	1	0	NEDD4L	54214401	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.431000	0.44775	2.890000	0.99128	0.650000	0.86243	CCA	NEDD4L	-	pfam_HECT,superfamily_HECT,smart_HECT,pfscan_HECT	ENSG00000049759		0.453	NEDD4L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NEDD4L	HGNC	protein_coding	OTTHUMT00000448749.1	21	0.00	0	C			56063421	56063421	+1	no_errors	ENST00000400345	ensembl	human	known	69_37n	missense	21	32.26	10	SNP	1.000	G
NOP9	161424	genome.wustl.edu	37	14	24774208	24774208	+	Silent	SNP	G	G	A			TCGA-AN-A03Y-01A-21W-A019-09	TCGA-AN-A03Y-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	f4849adc-b6e8-40bd-9de4-dc5bb37d2a79	c75fcb7d-04da-4c92-a5cd-9a34a370773c	g.chr14:24774208G>A	ENST00000267425.3	+	10	1911	c.1818G>A	c.(1816-1818)ttG>ttA	p.L606L	NOP9_ENST00000396802.3_3'UTR	NM_174913.1	NP_777573.1	Q86U38	NOP9_HUMAN	NOP9 nucleolar protein	606							poly(A) RNA binding (GO:0044822)										ATGTGGCCTTGACTACCTTCC	0.552																																						dbGAP											0													56.0	52.0	53.0					14																	24774208		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS9624.1, CCDS66616.1	14q12	2012-12-10	2012-12-10	2012-06-06	ENSG00000196943	ENSG00000196943			19826	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 21"", ""NOP9 nucleolar protein homolog (yeast)"""	C14orf21		21653694	Standard	XM_005267385		Approved		uc001wol.1	Q86U38	OTTHUMG00000029342	ENST00000267425.3:c.1818G>A	14.37:g.24774208G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A8MY76|Q8IVF0|Q8TBS6	Silent	SNP	superfamily_ARM-type_fold,smart_Pumilio_RNA-bd_rpt	p.L606	ENST00000267425.3	37	c.1818	CCDS9624.1	14																																																																																			NOP9	-	NULL	ENSG00000196943		0.552	NOP9-004	KNOWN	basic|appris_principal|CCDS	protein_coding	NOP9	HGNC	protein_coding	OTTHUMT00000073186.2	13	0.00	0	G			24774208	24774208	+1	no_errors	ENST00000267425	ensembl	human	known	69_37n	silent	5	61.54	8	SNP	0.975	A
PIK3CA	5290	genome.wustl.edu	37	3	178952085	178952085	+	Missense_Mutation	SNP	A	A	G	rs121913279		TCGA-AN-A03Y-01A-21W-A019-09	TCGA-AN-A03Y-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	f4849adc-b6e8-40bd-9de4-dc5bb37d2a79	c75fcb7d-04da-4c92-a5cd-9a34a370773c	g.chr3:178952085A>G	ENST00000263967.3	+	21	3297	c.3140A>G	c.(3139-3141)cAt>cGt	p.H1047R	RP11-245C23.3_ENST00000609807.1_RNA	NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	1047	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.		H -> L (in BC; unknown pathological significance). {ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16353168}.|H -> R (in CLOVE, KERSEB, CRC, BC and OC; also found in an endometrial carcinoma sample; shows an increase in lipid kinase activity; oncogenic in vivo; requires binding to p85 regulatory subunit to induce cellular transformation but not interaction with RAS; may mimic the conformatitonal change triggered by the interaction with RAS; enhances invadopodia-mediated extracellular matrix degradation and invasion in breast cancer cells; increases lipid kinase activity; may alter the interaction of the PI3K/ PI4K kinase domain with the cell membrane). {ECO:0000269|PubMed:15016963, ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15520168, ECO:0000269|PubMed:15712344, ECO:0000269|PubMed:15784156, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16114017, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:16353168, ECO:0000269|PubMed:16533766, ECO:0000269|PubMed:17673550, ECO:0000269|PubMed:22658544}.|H -> Y (in MCAP; also found in an endometrial carcinoma sample). {ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:22729224}.		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.H1047R(1387)|p.H1047L(194)|p.H1047P(1)		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)	AATGATGCACATCATGGTGGC	0.378	H1047L(EFM19_BREAST)|H1047R(BT20_BREAST)|H1047R(CAL29_URINARY_TRACT)|H1047R(CAL33_UPPER_AERODIGESTIVE_TRACT)|H1047R(DETROIT562_UPPER_AERODIGESTIVE_TRACT)|H1047R(HCC1954_BREAST)|H1047R(HCT116_LARGE_INTESTINE)|H1047R(HSC2_UPPER_AERODIGESTIVE_TRACT)|H1047R(LS180_LARGE_INTESTINE)|H1047R(MCAS_OVARY)|H1047R(MDAMB453_BREAST)|H1047R(NCIH1048_LUNG)|H1047R(RKO_LARGE_INTESTINE)|H1047R(SKOV3_OVARY)|H1047R(T47D_BREAST)	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"""	1582	Substitution - Missense(1582)	breast(961)|large_intestine(245)|endometrium(114)|ovary(77)|urinary_tract(36)|upper_aerodigestive_tract(26)|lung(19)|central_nervous_system(19)|stomach(19)|haematopoietic_and_lymphoid_tissue(11)|thyroid(10)|NS(9)|liver(7)|kidney(6)|soft_tissue(6)|skin(4)|prostate(4)|pituitary(3)|pancreas(3)|meninges(1)|cervix(1)|bone(1)											99.0	89.0	92.0					3																	178952085		1912	4130	6042	-	-	-	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.3140A>G	3.37:g.178952085A>G	ENSP00000263967:p.His1047Arg	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.H1047R	ENST00000263967.3	37	c.3140	CCDS43171.1	3	.	.	.	.	.	.	.	.	.	.	A	14.34	2.506328	0.44558	.	.	ENSG00000121879	ENST00000263967	T	0.80214	-1.35	6.08	6.08	0.98989	Protein kinase-like domain (1);Phosphatidylinositol 3-/4-kinase, catalytic (3);	0.000000	0.85682	D	0.000000	T	0.62466	0.2430	N	0.08118	0	0.80722	D	1	P	0.38597	0.639	B	0.28011	0.085	T	0.67526	-0.5648	10	0.40728	T	0.16	-21.2893	16.6512	0.85203	1.0:0.0:0.0:0.0	.	1047	P42336	PK3CA_HUMAN	R	1047	ENSP00000263967:H1047R	ENSP00000263967:H1047R	H	+	2	0	PIK3CA	180434779	1.000000	0.71417	0.996000	0.52242	0.998000	0.95712	8.859000	0.92264	2.333000	0.79357	0.482000	0.46254	CAT	PIK3CA	-	superfamily_Kinase-like_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	ENSG00000121879		0.378	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	PIK3CA	HGNC	protein_coding	OTTHUMT00000348409.2	132	0.00	0	A			178952085	178952085	+1	no_errors	ENST00000263967	ensembl	human	known	69_37n	missense	176	36.23	100	SNP	1.000	G
PREX2	80243	genome.wustl.edu	37	8	69012077	69012077	+	Splice_Site	SNP	A	A	C			TCGA-AN-A03Y-01A-21W-A019-09	TCGA-AN-A03Y-10A-01W-A021-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	f4849adc-b6e8-40bd-9de4-dc5bb37d2a79	c75fcb7d-04da-4c92-a5cd-9a34a370773c	g.chr8:69012077A>C	ENST00000288368.4	+	23	2991	c.2714A>C	c.(2713-2715)aAg>aCg	p.K905T	PREX2_ENST00000529398.1_3'UTR	NM_024870.2|NM_025170.4	NP_079146.2|NP_079446.3	Q70Z35	PREX2_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2	905					adult locomotory behavior (GO:0008344)|dendrite morphogenesis (GO:0048813)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|positive regulation of Rac GTPase activity (GO:0032855)		Rac GTPase activator activity (GO:0030675)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)			NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						AGTTATAAAAAGGTAAGTGTT	0.274																																						dbGAP											0													56.0	57.0	57.0					8																	69012077		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			AK024079	CCDS6201.1	8q13.1	2014-06-13	2008-09-15	2008-09-15	ENSG00000046889	ENSG00000046889		"""Rho guanine nucleotide exchange factors"""	22950	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 129"""	612139	"""DEP domain containing 2"""	DEPDC2		15304342, 15304343	Standard	NM_024870		Approved	DEP.2, FLJ12987, P-REX2, PPP1R129	uc003xxv.1	Q70Z35	OTTHUMG00000164402	ENST00000288368.4:c.2715+1A>C	8.37:g.69012077A>C		Somatic		WXS	Illumina GAIIx	Phase_IV	B4DFX0|Q32KL0|Q32KL1|Q6R7Q3|Q6R7Q4|Q9H805|Q9H961	Missense_Mutation	SNP	pfam_DH-domain,pfam_DEP_dom,pfam_PDZ,superfamily_DH-domain,superfamily_PDZ,smart_DH-domain,smart_Pleckstrin_homology,smart_DEP_dom,smart_PDZ,pfscan_DEP_dom,pfscan_PDZ,pfscan_Pleckstrin_homology,pfscan_DH-domain	p.K905T	ENST00000288368.4	37	c.2714	CCDS6201.1	8	.	.	.	.	.	.	.	.	.	.	A	16.01	3.000939	0.54254	.	.	ENSG00000046889	ENST00000288368;ENST00000396539;ENST00000354677	T	0.36878	1.23	5.66	4.51	0.55191	.	0.055265	0.64402	D	0.000001	T	0.49508	0.1561	L	0.56769	1.78	0.58432	D	0.999995	D;B;B	0.54601	0.967;0.023;0.449	P;B;B	0.58454	0.839;0.032;0.329	T	0.50285	-0.8846	10	0.87932	D	0	.	10.7974	0.46468	0.925:0.0:0.075:0.0	.	905;905;905	Q70Z35-2;Q70Z35;Q70Z35-3	.;PREX2_HUMAN;.	T	905	ENSP00000288368:K905T	ENSP00000288368:K905T	K	+	2	0	PREX2	69174631	1.000000	0.71417	1.000000	0.80357	0.916000	0.54674	6.882000	0.75589	0.976000	0.38417	0.528000	0.53228	AAG	PREX2	-	NULL	ENSG00000046889		0.274	PREX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PREX2	HGNC	protein_coding	OTTHUMT00000378620.1	187	0.00	0	A	NM_025170	Missense_Mutation	69012077	69012077	+1	no_errors	ENST00000288368	ensembl	human	known	69_37n	missense	822	15.31	149	SNP	1.000	C
SLC18A3	6572	genome.wustl.edu	37	10	50820002	50820002	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A03Y-01A-21W-A019-09	TCGA-AN-A03Y-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	f4849adc-b6e8-40bd-9de4-dc5bb37d2a79	c75fcb7d-04da-4c92-a5cd-9a34a370773c	g.chr10:50820002G>A	ENST00000374115.3	+	1	1656	c.1216G>A	c.(1216-1218)Gcc>Acc	p.A406T	CHAT_ENST00000339797.1_Intron|CHAT_ENST00000455728.2_5'Flank|CHAT_ENST00000337653.2_5'Flank|CHAT_ENST00000395562.2_5'Flank|CHAT_ENST00000395559.2_5'Flank|CHAT_ENST00000351556.3_5'Flank	NM_003055.2	NP_003046.2	Q16572	VACHT_HUMAN	solute carrier family 18 (vesicular acetylcholine transporter), member 3	406					acetylcholine transport (GO:0015870)|cation transmembrane transport (GO:0098655)|neurotransmitter secretion (GO:0007269)|synaptic transmission (GO:0007268)	clathrin-sculpted acetylcholine transport vesicle membrane (GO:0060201)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	acetylcholine transmembrane transporter activity (GO:0005277)			endometrium(6)|kidney(2)|large_intestine(8)|liver(1)|lung(20)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)	43						GCCCACGCTCGCCTTCCTGGT	0.637																																						dbGAP											0													46.0	42.0	43.0					10																	50820002		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC007765	CCDS7231.1	10q11.2	2013-07-18	2013-07-18		ENSG00000187714	ENSG00000187714		"""Solute carriers"""	10936	protein-coding gene	gene with protein product		600336				8071310	Standard	NM_003055		Approved	VACHT	uc001jhw.3	Q16572	OTTHUMG00000018196	ENST00000374115.3:c.1216G>A	10.37:g.50820002G>A	ENSP00000363229:p.Ala406Thr	Somatic		WXS	Illumina GAIIx	Phase_IV	B2R7S1	Missense_Mutation	SNP	pfam_MFS,pfam_Sub_transporter,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	p.A406T	ENST00000374115.3	37	c.1216	CCDS7231.1	10	.	.	.	.	.	.	.	.	.	.	G	21.2	4.108957	0.77096	.	.	ENSG00000187714	ENST00000374115	T	0.57907	0.37	5.11	4.2	0.49525	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.061558	0.64402	U	0.000005	T	0.73621	0.3610	M	0.84683	2.71	0.48040	D	0.999572	D	0.76494	0.999	D	0.72982	0.979	T	0.78404	-0.2217	10	0.87932	D	0	-5.4998	13.2042	0.59787	0.077:0.0:0.923:0.0	.	406	Q16572	VACHT_HUMAN	T	406	ENSP00000363229:A406T	ENSP00000363229:A406T	A	+	1	0	SLC18A3	50490008	1.000000	0.71417	1.000000	0.80357	0.592000	0.36648	9.777000	0.99008	1.153000	0.42468	0.561000	0.74099	GCC	SLC18A3	-	pfam_MFS,superfamily_MFS_dom_general_subst_transpt,pfscan_MFS_dom	ENSG00000187714		0.637	SLC18A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC18A3	HGNC	protein_coding	OTTHUMT00000047995.1	46	0.00	0	G	NM_003055		50820002	50820002	+1	no_errors	ENST00000374115	ensembl	human	known	69_37n	missense	10	54.55	12	SNP	1.000	A
SLC25A48	153328	genome.wustl.edu	37	5	135207426	135207426	+	Intron	SNP	G	G	A			TCGA-AN-A03Y-01A-21W-A019-09	TCGA-AN-A03Y-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	f4849adc-b6e8-40bd-9de4-dc5bb37d2a79	c75fcb7d-04da-4c92-a5cd-9a34a370773c	g.chr5:135207426G>A	ENST00000420621.1	+	5	851				SLC25A48_ENST00000412661.2_Intron|SLC25A48_ENST00000425402.1_Intron|SLC25A48_ENST00000274513.5_Nonsense_Mutation_p.W233*|SLC25A48_ENST00000433282.2_Intron			Q6ZT89	S2548_HUMAN	solute carrier family 25, member 48						transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)				NS(1)|breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(3)|skin(1)	10						AGCAGCAGCTGGAGCCGCACC	0.662																																						dbGAP											0													20.0	23.0	22.0					5																	135207426		1967	4142	6109	-	-	-	SO:0001627	intron_variant	0				CCDS43366.2	5q31.1	2013-05-22			ENSG00000145832	ENSG00000145832		"""Solute carriers"""	30451	protein-coding gene	gene with protein product	"""HCC-down-regulated mitochondrial carrier protein"""					15322095, 19303656	Standard	NM_145282		Approved	FLJ44862, HDMCP	uc003lba.3	Q6ZT89	OTTHUMG00000157007	ENST00000420621.1:c.679+19G>A	5.37:g.135207426G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q8TAV9	Nonsense_Mutation	SNP	pfam_Mitochondrial_sb/sol_carrier,superfamily_Mt_carrier_dom,pfscan_Mitochondrial_sb/sol_carrier	p.W233*	ENST00000420621.1	37	c.698		5	.	.	.	.	.	.	.	.	.	.	G	12.05	1.822565	0.32237	.	.	ENSG00000145832	ENST00000274513	.	.	.	1.51	0.61	0.17580	.	0.856428	0.11193	N	0.589723	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	2.4477	0.04510	0.1931:0.0:0.4236:0.3832	.	.	.	.	X	233	.	ENSP00000274513:W233X	W	+	2	0	SLC25A48	135235325	0.001000	0.12720	0.003000	0.11579	0.115000	0.19883	0.224000	0.17738	0.183000	0.20059	0.313000	0.20887	TGG	SLC25A48	-	NULL	ENSG00000145832		0.662	SLC25A48-201	KNOWN	basic|appris_principal	protein_coding	SLC25A48	HGNC	protein_coding		31	0.00	0	G	NM_145282		135207426	135207426	+1	no_errors	ENST00000274513	ensembl	human	known	69_37n	nonsense	25	47.92	23	SNP	0.006	A
THOC1	9984	genome.wustl.edu	37	18	225118	225119	+	Frame_Shift_Ins	INS	-	-	G	rs368677132		TCGA-AN-A03Y-01A-21W-A019-09	TCGA-AN-A03Y-10A-01W-A021-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	f4849adc-b6e8-40bd-9de4-dc5bb37d2a79	c75fcb7d-04da-4c92-a5cd-9a34a370773c	g.chr18:225118_225119insG	ENST00000261600.6	-	14	1114_1115	c.1107_1108insC	c.(1105-1110)cccgatfs	p.D370fs		NM_005131.2	NP_005122.2	Q96FV9	THOC1_HUMAN	THO complex 1	370					apoptotic process (GO:0006915)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|negative regulation of DNA damage checkpoint (GO:2000002)|negative regulation of isotype switching to IgA isotypes (GO:0048297)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|regulation of DNA recombination (GO:0000018)|regulation of DNA-templated transcription, elongation (GO:0032784)|replication fork processing (GO:0031297)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|viral mRNA export from host cell nucleus (GO:0046784)	cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|nucleus (GO:0005634)|THO complex (GO:0000347)|THO complex part of transcription export complex (GO:0000445)|transcription export complex (GO:0000346)	DNA binding (GO:0003677)|RNA binding (GO:0003723)			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(5)|ovary(1)|skin(1)|stomach(1)|urinary_tract(1)	20		all_cancers(4;0.0896)|Myeloproliferative disorder(11;0.0412)				CTTTCTCCATCGGGGGGGTTTT	0.386																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AK055354	CCDS45820.1	18p11.32	2013-02-11			ENSG00000079134	ENSG00000079134		"""THO complex subunits"""	19070	protein-coding gene	gene with protein product		606930				11979277	Standard	NM_005131		Approved	P84, HPR1	uc002kkj.4	Q96FV9		ENST00000261600.6:c.1108dupC	18.37:g.225125_225125dupG	ENSP00000261600:p.Asp370fs	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RBP6|Q15219|Q64I72|Q64I73	Frame_Shift_Ins	INS	pfam_THO_THOC1,pfam_Death,superfamily_DEATH-like,smart_Death,pfscan_Death	p.D369fs	ENST00000261600.6	37	c.1108_1107	CCDS45820.1	18																																																																																			THOC1	-	pfam_THO_THOC1	ENSG00000079134		0.386	THOC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	THOC1	HGNC	protein_coding	OTTHUMT00000440348.5	32	0.00	0	-	NM_005131		225118	225119	-1	no_errors	ENST00000261600	ensembl	human	known	69_37n	frame_shift_ins	33	10.81	4	INS	1.000:0.059	G
TMC5	79838	genome.wustl.edu	37	16	19498308	19498308	+	Missense_Mutation	SNP	T	T	A			TCGA-AN-A03Y-01A-21W-A019-09	TCGA-AN-A03Y-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	f4849adc-b6e8-40bd-9de4-dc5bb37d2a79	c75fcb7d-04da-4c92-a5cd-9a34a370773c	g.chr16:19498308T>A	ENST00000396229.2	+	16	3154	c.2405T>A	c.(2404-2406)aTg>aAg	p.M802K	TMC5_ENST00000564959.1_Missense_Mutation_p.M485K|TMC5_ENST00000219821.5_Missense_Mutation_p.M556K|TMC5_ENST00000381414.4_Missense_Mutation_p.M802K|TMC5_ENST00000541464.1_Missense_Mutation_p.M750K|CTA-363E6.6_ENST00000561762.1_RNA|TMC5_ENST00000542583.2_Missense_Mutation_p.M802K|TMC5_ENST00000561503.1_Missense_Mutation_p.M443K	NM_001105248.1	NP_001098718.1	Q6UXY8	TMC5_HUMAN	transmembrane channel-like 5	802					ion transport (GO:0006811)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(3)|liver(2)|lung(12)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	31						TTTATCCAAATGATTATGCTT	0.498																																						dbGAP											0													132.0	106.0	115.0					16																	19498308		2197	4300	6497	-	-	-	SO:0001583	missense	0			AY263164	CCDS10577.1, CCDS42126.1, CCDS45431.1	16p13.11	2008-02-05			ENSG00000103534	ENSG00000103534			22999	protein-coding gene	gene with protein product						12812529, 12906855	Standard	NM_024780		Approved	FLJ13593	uc010var.2	Q6UXY8	OTTHUMG00000131458	ENST00000396229.2:c.2405T>A	16.37:g.19498308T>A	ENSP00000379531:p.Met802Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	Q68DK8|Q8IY20|Q8NHV6|Q9H8I7	Missense_Mutation	SNP	pfam_TMC	p.M802K	ENST00000396229.2	37	c.2405	CCDS45431.1	16	.	.	.	.	.	.	.	.	.	.	T	16.88	3.244644	0.59103	.	.	ENSG00000103534	ENST00000541464;ENST00000381414;ENST00000396229;ENST00000542583;ENST00000219821;ENST00000440743	T;T;T;T;T	0.63096	-0.02;-0.02;-0.02;-0.02;-0.02	5.61	5.61	0.85477	.	0.176534	0.64402	D	0.000007	T	0.75910	0.3914	M	0.62723	1.935	0.54753	D	0.999982	D;D;D;D;D;D	0.76494	0.998;0.984;0.998;0.99;0.999;0.998	D;P;D;D;D;D	0.71184	0.953;0.845;0.931;0.934;0.972;0.953	T	0.77807	-0.2450	10	0.59425	D	0.04	-27.8184	14.7798	0.69756	0.0:0.0:0.0:1.0	.	750;485;556;556;802;802	F5GYU8;E7EU57;Q6UXY8-3;B3KUQ8;Q6UXY8;Q6UXY8-2	.;.;.;.;TMC5_HUMAN;.	K	750;802;802;802;556;485	ENSP00000441227:M750K;ENSP00000370822:M802K;ENSP00000379531:M802K;ENSP00000446274:M802K;ENSP00000219821:M556K	ENSP00000219821:M556K	M	+	2	0	TMC5	19405809	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	6.761000	0.74945	2.130000	0.65690	0.533000	0.62120	ATG	TMC5	-	pfam_TMC	ENSG00000103534		0.498	TMC5-201	KNOWN	basic|appris_principal|CCDS	protein_coding	TMC5	HGNC	protein_coding	OTTHUMT00000435888.1	152	0.00	0	T	NM_024780		19498308	19498308	+1	no_errors	ENST00000396229	ensembl	human	known	69_37n	missense	222	38.67	140	SNP	1.000	A
TNFRSF21	27242	genome.wustl.edu	37	6	47253822	47253822	+	Silent	SNP	C	C	T			TCGA-AN-A03Y-01A-21W-A019-09	TCGA-AN-A03Y-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	f4849adc-b6e8-40bd-9de4-dc5bb37d2a79	c75fcb7d-04da-4c92-a5cd-9a34a370773c	g.chr6:47253822C>T	ENST00000296861.2	-	2	999	c.606G>A	c.(604-606)ccG>ccA	p.P202P		NM_014452.3	NP_055267.1	O75509	TNR21_HUMAN	tumor necrosis factor receptor superfamily, member 21	202					adaptive immune response (GO:0002250)|apoptotic process (GO:0006915)|B cell apoptotic process (GO:0001783)|cellular lipid metabolic process (GO:0044255)|cellular response to tumor necrosis factor (GO:0071356)|humoral immune response (GO:0006959)|myelination (GO:0042552)|negative regulation of B cell proliferation (GO:0030889)|negative regulation of interleukin-10 secretion (GO:2001180)|negative regulation of interleukin-13 secretion (GO:2000666)|negative regulation of interleukin-5 secretion (GO:2000663)|negative regulation of myelination (GO:0031642)|negative regulation of T cell proliferation (GO:0042130)|neuron apoptotic process (GO:0051402)|oligodendrocyte apoptotic process (GO:0097252)|regulation of oligodendrocyte differentiation (GO:0048713)|small molecule metabolic process (GO:0044281)|T cell receptor signaling pathway (GO:0050852)	axon (GO:0030424)|integral component of plasma membrane (GO:0005887)|intrinsic component of plasma membrane (GO:0031226)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(6)|lung(7)|pancreas(1)|skin(2)	21			Lung(136;0.189)			CCTTGGTCCCCGGCTTGATCA	0.557																																						dbGAP											0													204.0	143.0	164.0					6																	47253822		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF068868	CCDS4921.1	6p21.1	2011-08-11			ENSG00000146072	ENSG00000146072		"""Tumor necrosis factor receptor superfamily"", ""CD molecules"""	13469	protein-coding gene	gene with protein product	"""death receptor 6"""	605732				9714541	Standard	NM_014452		Approved	DR6, CD358	uc003oyv.3	O75509	OTTHUMG00000014796	ENST00000296861.2:c.606G>A	6.37:g.47253822C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B2RDI9|Q0D2P5|Q96D86	Silent	SNP	pfam_Death,superfamily_DEATH-like,smart_TNFR/NGFR_Cys_rich_reg,smart_Death,prints_TNFR_21,pfscan_Death,pfscan_TNFR/NGFR_Cys_rich_reg	p.P202	ENST00000296861.2	37	c.606	CCDS4921.1	6																																																																																			TNFRSF21	-	smart_TNFR/NGFR_Cys_rich_reg	ENSG00000146072		0.557	TNFRSF21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TNFRSF21	HGNC	protein_coding	OTTHUMT00000040814.1	98	0.00	0	C	NM_014452		47253822	47253822	-1	no_errors	ENST00000296861	ensembl	human	known	69_37n	silent	130	44.73	106	SNP	0.952	T
TPP2	7174	genome.wustl.edu	37	13	103309552	103309552	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A03Y-01A-21W-A019-09	TCGA-AN-A03Y-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	f4849adc-b6e8-40bd-9de4-dc5bb37d2a79	c75fcb7d-04da-4c92-a5cd-9a34a370773c	g.chr13:103309552G>A	ENST00000376065.4	+	24	3135	c.3099G>A	c.(3097-3099)atG>atA	p.M1033I	TPP2_ENST00000466153.1_3'UTR|TPP2_ENST00000376052.3_Missense_Mutation_p.M1046I	NM_003291.2	NP_003282.2	P29144	TPP2_HUMAN	tripeptidyl peptidase II	1033					antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|protein polyubiquitination (GO:0000209)|proteolysis (GO:0006508)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	aminopeptidase activity (GO:0004177)|endopeptidase activity (GO:0004175)|serine-type endopeptidase activity (GO:0004252)|tripeptidyl-peptidase activity (GO:0008240)			breast(2)|endometrium(5)|kidney(2)|large_intestine(12)|lung(21)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	52	all_neural(89;0.0438)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					TTCAGTGGATGACAAAGTAGG	0.264																																						dbGAP											0													57.0	61.0	60.0					13																	103309552		2203	4298	6501	-	-	-	SO:0001583	missense	0			M55169	CCDS9502.1	13q32-q33	2008-02-05			ENSG00000134900	ENSG00000134900	3.4.14.10		12016	protein-coding gene	gene with protein product		190470				1670990	Standard	NM_003291		Approved		uc001vpi.4	P29144	OTTHUMG00000017305	ENST00000376065.4:c.3099G>A	13.37:g.103309552G>A	ENSP00000365233:p.Met1033Ile	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5VZU8	Missense_Mutation	SNP	pfam_Peptidase_S8/S53,pfam_Peptidase_S8A_TPPII,superfamily_Peptidase_S8/S53,prints_Peptidase_S8_subtilisin-rel	p.M1033I	ENST00000376065.4	37	c.3099	CCDS9502.1	13	.	.	.	.	.	.	.	.	.	.	G	14.13	2.445053	0.43429	.	.	ENSG00000134900	ENST00000376065;ENST00000376052	.	.	.	5.87	5.87	0.94306	.	0.000000	0.85682	D	0.000000	T	0.49355	0.1552	N	0.20610	0.595	0.80722	D	1	B	0.22683	0.073	B	0.19946	0.027	T	0.42050	-0.9474	9	0.12766	T	0.61	.	20.5827	0.99408	0.0:0.0:1.0:0.0	.	1033	P29144	TPP2_HUMAN	I	1033;1046	.	ENSP00000365220:M1046I	M	+	3	0	TPP2	102107553	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.174000	0.94824	2.941000	0.99782	0.655000	0.94253	ATG	TPP2	-	NULL	ENSG00000134900		0.264	TPP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TPP2	HGNC	protein_coding	OTTHUMT00000045683.2	92	0.00	0	G			103309552	103309552	+1	no_errors	ENST00000376065	ensembl	human	known	69_37n	missense	109	34.73	58	SNP	1.000	A
TRIM26	7726	genome.wustl.edu	37	6	30157808	30157808	+	Missense_Mutation	SNP	G	G	A			TCGA-AN-A03Y-01A-21W-A019-09	TCGA-AN-A03Y-10A-01W-A021-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	f4849adc-b6e8-40bd-9de4-dc5bb37d2a79	c75fcb7d-04da-4c92-a5cd-9a34a370773c	g.chr6:30157808G>A	ENST00000454678.2	-	7	1206	c.770C>T	c.(769-771)aCg>aTg	p.T257M	TRIM26_ENST00000437089.1_Missense_Mutation_p.T257M|TRIM26_ENST00000453195.1_Missense_Mutation_p.T257M	NM_003449.4	NP_003440.1	Q12899	TRI26_HUMAN	tripartite motif containing 26	257					innate immune response (GO:0045087)|negative regulation of viral entry into host cell (GO:0046597)|negative regulation of viral release from host cell (GO:1902187)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)	cytoplasm (GO:0005737)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|zinc ion binding (GO:0008270)			lung(1)|ovary(2)	3						GAAGTCTCTCGTGTCCTAGAA	0.438																																						dbGAP											0													106.0	84.0	91.0					6																	30157808		1511	2709	4220	-	-	-	SO:0001583	missense	0			AB088090	CCDS4678.1	6p21.3	2013-01-09	2011-01-25	2001-11-23	ENSG00000234127	ENSG00000234127		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	12962	protein-coding gene	gene with protein product		600830	"""tripartite motif-containing 26"""	ZNF173		8530076	Standard	NM_003449		Approved	RNF95	uc003npt.3	Q12899	OTTHUMG00000031041	ENST00000454678.2:c.770C>T	6.37:g.30157808G>A	ENSP00000410446:p.Thr257Met	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NG96|Q5SRL2	Missense_Mutation	SNP	pfam_SPRY_rcpt,pfam_Znf_B-box,pfam_Znf_C3HC4_RING-type,superfamily_ConA-like_lec_gl,smart_Znf_RING,smart_Znf_B-box,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_Znf_B-box,pfscan_Znf_RING,prints_Butyrophylin	p.T257M	ENST00000454678.2	37	c.770	CCDS4678.1	6	.	.	.	.	.	.	.	.	.	.	G	15.40	2.822255	0.50739	.	.	ENSG00000234127	ENST00000453195;ENST00000454678;ENST00000437089	T;T;T	0.04809	3.55;3.55;3.55	5.43	3.62	0.41486	.	0.137618	0.33272	N	0.005084	T	0.02012	0.0063	L	0.27053	0.805	0.28652	N	0.906629	D	0.67145	0.996	P	0.48571	0.582	T	0.42699	-0.9436	10	0.59425	D	0.04	.	6.8147	0.23824	0.0936:0.1794:0.727:0.0	.	257	Q12899	TRI26_HUMAN	M	257	ENSP00000391879:T257M;ENSP00000410446:T257M;ENSP00000395491:T257M	ENSP00000395491:T257M	T	-	2	0	TRIM26	30265787	1.000000	0.71417	0.998000	0.56505	0.711000	0.40976	1.506000	0.35747	1.276000	0.44395	0.453000	0.30009	ACG	TRIM26	-	NULL	ENSG00000234127		0.438	TRIM26-002	KNOWN	basic|appris_principal|CCDS	protein_coding	TRIM26	HGNC	protein_coding	OTTHUMT00000253442.1	58	0.00	0	G	NM_003449		30157808	30157808	-1	no_errors	ENST00000437089	ensembl	human	known	69_37n	missense	87	14.71	15	SNP	1.000	A
UBC	7316	genome.wustl.edu	37	12	125396469	125396469	+	Missense_Mutation	SNP	T	T	G			TCGA-AN-A03Y-01A-21W-A019-09	TCGA-AN-A03Y-10A-01W-A021-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	f4849adc-b6e8-40bd-9de4-dc5bb37d2a79	c75fcb7d-04da-4c92-a5cd-9a34a370773c	g.chr12:125396469T>G	ENST00000538617.1	-	4	1025	c.709A>C	c.(709-711)Act>Cct	p.T237P	UBC_ENST00000536769.1_Missense_Mutation_p.T617P|UBC_ENST00000536661.1_5'Flank|UBC_ENST00000546120.1_Missense_Mutation_p.T541P|UBC_ENST00000339647.5_Missense_Mutation_p.T617P			P0CG48	UBC_HUMAN	ubiquitin C	617	Ubiquitin-like 4. {ECO:0000255|PROSITE- ProRule:PRU00214}.				activation of MAPK activity (GO:0000187)|anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|carbohydrate metabolic process (GO:0005975)|cellular response to hypoxia (GO:0071456)|cytokine-mediated signaling pathway (GO:0019221)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|endosomal transport (GO:0016197)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G1/S transition of mitotic cell cycle (GO:0000082)|G2/M transition of mitotic cell cycle (GO:0000086)|gene expression (GO:0010467)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|intracellular transport of virus (GO:0075733)|ion transmembrane transport (GO:0034220)|JNK cascade (GO:0007254)|membrane organization (GO:0061024)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|negative regulation of type I interferon production (GO:0032480)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of apoptotic process (GO:0043065)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of type I interferon production (GO:0032479)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|stress-activated MAPK cascade (GO:0051403)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|transmembrane transport (GO:0055085)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral protein processing (GO:0019082)|virion assembly (GO:0019068)	cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)|protease binding (GO:0002020)			breast(3)|endometrium(4)|kidney(4)|large_intestine(2)|lung(13)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;6.17e-05)|Epithelial(86;0.000207)|all cancers(50;0.00308)		GTCTTACCAGTCAGGGTCTTC	0.537																																						dbGAP											0													144.0	95.0	111.0					12																	125396469		2202	4290	6492	-	-	-	SO:0001583	missense	0				CCDS9260.1	12q24.3	2008-09-08			ENSG00000150991	ENSG00000150991			12468	protein-coding gene	gene with protein product	"""polyubiquitin-C"""	191340				1315303, 11872750	Standard	NM_021009		Approved		uc001ugs.4	P0CG48		ENST00000538617.1:c.709A>C	12.37:g.125396469T>G	ENSP00000443053:p.Thr237Pro	Somatic		WXS	Illumina GAIIx	Phase_IV	P02248|P02249|P02250|P62988|Q29120|Q6LBL4|Q6LDU5|Q8WYN8|Q91887|Q91888|Q9BWD6|Q9BX98|Q9UEF2|Q9UEG1|Q9UEK8|Q9UPK7	Missense_Mutation	SNP	pfam_Ubiquitin,pfam_SUMO,smart_Ubiquitin,pfscan_Ubiquitin_supergroup,prints_Ubiquitin_subgr	p.T617P	ENST00000538617.1	37	c.1849		12	.	.	.	.	.	.	.	.	.	.	T	15.17	2.755192	0.49362	.	.	ENSG00000150991	ENST00000536769;ENST00000535460;ENST00000538617;ENST00000541046;ENST00000339647;ENST00000546120	T;T;T;T	0.32272	1.46;1.46;1.46;1.46	5.05	3.88	0.44766	Ubiquitin supergroup (1);Ubiquitin (2);	904.978000	0.01697	U	0.026956	T	0.65291	0.2677	M	0.89095	3.005	0.50039	D	0.999846	D;P;D	0.61697	0.98;0.547;0.99	P;B;D	0.67103	0.898;0.316;0.949	T	0.22800	-1.0206	10	0.87932	D	0	.	11.2185	0.48840	0.1374:0.0:0.0:0.8626	.	630;465;617	Q66K58;F5H7K6;P0CG48	.;.;UBC_HUMAN	P	617;465;237;541;617;541	ENSP00000441543:T617P;ENSP00000443053:T237P;ENSP00000344818:T617P;ENSP00000438394:T541P	ENSP00000344818:T617P	T	-	1	0	UBC	123962422	1.000000	0.71417	0.824000	0.32777	0.661000	0.39034	5.402000	0.66332	0.755000	0.32990	0.375000	0.23000	ACT	UBC	-	pfam_Ubiquitin,pfam_SUMO,smart_Ubiquitin,pfscan_Ubiquitin_supergroup	ENSG00000150991		0.537	UBC-003	PUTATIVE	basic|exp_conf	protein_coding	UBC	HGNC	protein_coding	OTTHUMT00000400179.1	204	0.00	0	T	NM_021009		125396469	125396469	-1	no_errors	ENST00000339647	ensembl	human	known	69_37n	missense	136	24.31	44	SNP	1.000	G
WDHD1	11169	genome.wustl.edu	37	14	55411176	55411176	+	Silent	SNP	C	C	A			TCGA-AN-A03Y-01A-21W-A019-09	TCGA-AN-A03Y-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	f4849adc-b6e8-40bd-9de4-dc5bb37d2a79	c75fcb7d-04da-4c92-a5cd-9a34a370773c	g.chr14:55411176C>A	ENST00000360586.3	-	25	3128	c.3063G>T	c.(3061-3063)ggG>ggT	p.G1021G	WDHD1_ENST00000420358.2_Silent_p.G898G|WDHD1_ENST00000421192.1_Silent_p.G898G|WDHD1_ENST00000359167.4_Silent_p.G539G	NM_007086.3	NP_009017.1	O75717	WDHD1_HUMAN	WD repeat and HMG-box DNA binding protein 1	1021					heterochromatin maintenance (GO:0070829)|regulation of chromosome organization (GO:0033044)|RNA processing (GO:0006396)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|RNA binding (GO:0003723)			breast(3)|endometrium(4)|kidney(3)|large_intestine(9)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(2)	42						ACATCTGGAACCCGGTCTTTG	0.318																																						dbGAP											0													68.0	68.0	68.0					14																	55411176		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AJ006266	CCDS9721.1, CCDS41955.1	14q22.2	2013-01-09			ENSG00000198554	ENSG00000198554		"""WD repeat domain containing"""	23170	protein-coding gene	gene with protein product	"""CTF4, chromosome transmission fidelity factor 4 homolog (S. cerevisiae)"""	608126				9175701, 20028748	Standard	NM_007086		Approved	AND-1, CTF4, CHTF4	uc001xbm.2	O75717	OTTHUMG00000140304	ENST00000360586.3:c.3063G>T	14.37:g.55411176C>A		Somatic		WXS	Illumina GAIIx	Phase_IV	C9JW18|F6W0U7	Silent	SNP	pfam_WD40_repeat,pfam_DUF3639,pfam_TIF2A_beta_prop-like,superfamily_WD40_repeat_dom,superfamily_HMG_superfamily,smart_WD40_repeat,smart_HMG_superfamily,pfscan_HMG_superfamily,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.G1021	ENST00000360586.3	37	c.3063	CCDS9721.1	14																																																																																			WDHD1	-	superfamily_HMG_superfamily,smart_HMG_superfamily,pfscan_HMG_superfamily	ENSG00000198554		0.318	WDHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WDHD1	HGNC	protein_coding	OTTHUMT00000276897.2	92	0.00	0	C	NM_007086		55411176	55411176	-1	no_errors	ENST00000360586	ensembl	human	known	69_37n	silent	97	22.40	28	SNP	0.993	A
ZBED4	9889	genome.wustl.edu	37	22	50280507	50280507	+	Missense_Mutation	SNP	C	C	T			TCGA-AN-A03Y-01A-21W-A019-09	TCGA-AN-A03Y-10A-01W-A021-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	f4849adc-b6e8-40bd-9de4-dc5bb37d2a79	c75fcb7d-04da-4c92-a5cd-9a34a370773c	g.chr22:50280507C>T	ENST00000216268.5	+	2	3674	c.3197C>T	c.(3196-3198)tCa>tTa	p.S1066L		NM_014838.2	NP_055653.2	O75132	ZBED4_HUMAN	zinc finger, BED-type containing 4	1066						cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(3)|kidney(2)|large_intestine(11)|lung(20)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	44		all_cancers(38;8.58e-10)|all_epithelial(38;1.15e-08)|all_lung(38;0.000109)|Lung NSC(38;0.0018)|Breast(42;0.00191)|Ovarian(80;0.0164)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.168)|BRCA - Breast invasive adenocarcinoma(115;0.2)|LUAD - Lung adenocarcinoma(64;0.247)		AACCTGTGGTCACTTGTGGCC	0.552																																						dbGAP											0													86.0	67.0	73.0					22																	50280507		2203	4300	6503	-	-	-	SO:0001583	missense	0			AB014537	CCDS33677.1	22q13.33	2013-05-03			ENSG00000100426	ENSG00000100426		"""Zinc fingers, BED-type"""	20721	protein-coding gene	gene with protein product		612552				23533661	Standard	NM_014838		Approved	KIAA0637	uc003bix.2	O75132	OTTHUMG00000150291	ENST00000216268.5:c.3197C>T	22.37:g.50280507C>T	ENSP00000216268:p.Ser1066Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RZH1|Q1ECU0|Q9UGG8	Missense_Mutation	SNP	pfam_Znf_BED_prd,pfam_HATC,superfamily_RNaseH-like_dom,smart_Znf_BED_prd,pfscan_Znf_BED_prd	p.S1066L	ENST00000216268.5	37	c.3197	CCDS33677.1	22	.	.	.	.	.	.	.	.	.	.	C	17.22	3.335196	0.60853	.	.	ENSG00000100426	ENST00000216268	T	0.22945	1.93	5.18	5.18	0.71444	Ribonuclease H-like (1);	0.075156	0.56097	N	0.000027	T	0.30386	0.0763	L	0.61218	1.895	0.80722	D	1	P	0.34864	0.473	B	0.32393	0.145	T	0.09143	-1.0688	10	0.48119	T	0.1	-15.54	18.8805	0.92354	0.0:1.0:0.0:0.0	.	1066	O75132	ZBED4_HUMAN	L	1066	ENSP00000216268:S1066L	ENSP00000216268:S1066L	S	+	2	0	ZBED4	48666511	1.000000	0.71417	0.963000	0.40424	0.103000	0.19146	7.309000	0.78937	2.707000	0.92482	0.655000	0.94253	TCA	ZBED4	-	superfamily_RNaseH-like_dom	ENSG00000100426		0.552	ZBED4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZBED4	HGNC	protein_coding	OTTHUMT00000317408.2	36	0.00	0	C	NM_014838		50280507	50280507	+1	no_errors	ENST00000216268	ensembl	human	known	69_37n	missense	31	39.62	21	SNP	1.000	T
ZNF586	54807	genome.wustl.edu	37	19	58290700	58290701	+	Frame_Shift_Ins	INS	-	-	T			TCGA-AN-A03Y-01A-21W-A019-09	TCGA-AN-A03Y-10A-01W-A021-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	f4849adc-b6e8-40bd-9de4-dc5bb37d2a79	c75fcb7d-04da-4c92-a5cd-9a34a370773c	g.chr19:58290700_58290701insT	ENST00000396154.2	+	3	918_919	c.745_746insT	c.(745-747)cttfs	p.L249fs	ZNF586_ENST00000598885.1_Intron|ZNF586_ENST00000598183.1_Intron|ZNF586_ENST00000391702.3_Frame_Shift_Ins_p.L206fs|ZNF586_ENST00000396150.4_Frame_Shift_Ins_p.L207fs|ZNF586_ENST00000599802.1_Intron	NM_017652.3	NP_060122.2	Q9NXT0	ZN586_HUMAN	zinc finger protein 586	249					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(6)|ovary(2)|prostate(1)	15		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Breast(46;0.0389)|Ovarian(87;0.0443)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		AAACTCCAGTCTTATTAAACAC	0.436																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AK095993	CCDS42640.1, CCDS56107.1, CCDS56108.1	19q13.43	2013-01-08				ENSG00000083828		"""Zinc fingers, C2H2-type"", ""-"""	25949	protein-coding gene	gene with protein product						12477932	Standard	NM_017652		Approved	FLJ20070	uc002qqd.3	Q9NXT0		ENST00000396154.2:c.747dupT	19.37:g.58290702_58290702dupT	ENSP00000379458:p.Leu249fs	Somatic		WXS	Illumina GAIIx	Phase_IV	A0JLV8|A8MY63|B3KTS9|E7ERT1|G3XAH3	Frame_Shift_Ins	INS	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.I250fs	ENST00000396154.2	37	c.745_746	CCDS42640.1	19																																																																																			ZNF586	-	pfam_Znf_C2H2,smart_Znf_C2H2-like,pfscan_Znf_C2H2	ENSG00000083828		0.436	ZNF586-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF586	HGNC	protein_coding	OTTHUMT00000466825.2	203	0.00	0	-	NM_017652		58290700	58290701	+1	no_errors	ENST00000396154	ensembl	human	known	69_37n	frame_shift_ins	207	37.46	124	INS	0.010:0.020	T
