#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
AMOTL2	51421	genome.wustl.edu	37	3	134089691	134089692	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A8-A0A2-01A-11W-A050-09	TCGA-A8-A0A2-10A-01W-A055-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b681dba3-a608-47c2-9ae8-5d761d1e800e	74e986b0-8284-4f30-8bbd-6132f40ed403	g.chr3:134089691_134089692insG	ENST00000422605.2	-	2	750_751	c.584_585insC	c.(583-585)ccafs	p.P195fs	AMOTL2_ENST00000513145.1_Frame_Shift_Ins_p.P195fs|AMOTL2_ENST00000514516.1_Frame_Shift_Ins_p.P253fs|AMOTL2_ENST00000511759.1_Intron|AMOTL2_ENST00000249883.5_Frame_Shift_Ins_p.P195fs			Q9Y2J4	AMOL2_HUMAN	angiomotin like 2	195					hippo signaling (GO:0035329)|Wnt signaling pathway (GO:0016055)	apical plasma membrane (GO:0016324)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endosome (GO:0005768)|tight junction (GO:0005923)				endometrium(8)|kidney(1)|large_intestine(2)|lung(4)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	19						GGCCCCTCAGTGGGGGGCCCTG	0.663																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AF175966	CCDS33860.1, CCDS63783.1, CCDS63784.1	3q21-q22	2008-07-18			ENSG00000114019	ENSG00000114019			17812	protein-coding gene	gene with protein product	"""Leman coiled-coil protein"", ""angiomotin-like protein 2"""	614658					Standard	NM_016201		Approved	LCCP	uc003eqg.1	Q9Y2J4	OTTHUMG00000159777	ENST00000422605.2:c.585dupC	3.37:g.134089697_134089697dupG	ENSP00000409999:p.Pro195fs	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K6F1|B7Z5Q1|E9PHW3|Q53EP1|Q96F99|Q9UKB4	Frame_Shift_Ins	INS	pfam_Angiomotin_C,prints_Angiomotin	p.L196fs	ENST00000422605.2	37	c.585_584		3																																																																																			AMOTL2	-	NULL	ENSG00000114019		0.663	AMOTL2-014	KNOWN	basic|appris_candidate_longest	protein_coding	AMOTL2	HGNC	protein_coding	OTTHUMT00000358149.1	15	0.00	0	-	NM_016201		134089691	134089692	-1	no_errors	ENST00000249883	ensembl	human	known	69_37n	frame_shift_ins	8	20.00	2	INS	0.000:0.000	G
AP3B1	8546	genome.wustl.edu	37	5	77458675	77458675	+	Missense_Mutation	SNP	T	T	C			TCGA-A8-A0A2-01A-11W-A050-09	TCGA-A8-A0A2-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b681dba3-a608-47c2-9ae8-5d761d1e800e	74e986b0-8284-4f30-8bbd-6132f40ed403	g.chr5:77458675T>C	ENST00000255194.6	-	13	1506	c.1331A>G	c.(1330-1332)aAt>aGt	p.N444S	AP3B1_ENST00000519295.1_Missense_Mutation_p.N395S	NM_001271769.1	NP_001258698.1	O00203	AP3B1_HUMAN	adaptor-related protein complex 3, beta 1 subunit	444					anterograde axon cargo transport (GO:0008089)|anterograde synaptic vesicle transport (GO:0048490)|antigen processing and presentation, exogenous lipid antigen via MHC class Ib (GO:0048007)|blood coagulation (GO:0007596)|intracellular protein transport (GO:0006886)|melanosome organization (GO:0032438)|positive regulation of NK T cell differentiation (GO:0051138)|protein targeting to lysosome (GO:0006622)	AP-3 adaptor complex (GO:0030123)|cytoplasmic vesicle (GO:0031410)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)	GTP-dependent protein binding (GO:0030742)|protein phosphatase binding (GO:0019903)			breast(5)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(12)|lung(12)|prostate(1)|skin(2)|urinary_tract(1)	39		all_lung(232;0.000397)|Lung NSC(167;0.00106)|Ovarian(174;0.0105)|Prostate(461;0.215)		OV - Ovarian serous cystadenocarcinoma(54;8.23e-47)|Epithelial(54;2.74e-41)|all cancers(79;4.8e-36)		GACCAAGCCATTGAGGCACGT	0.393									Hermansky-Pudlak syndrome																													dbGAP											0													151.0	134.0	140.0					5																	77458675		2203	4299	6502	-	-	-	SO:0001583	missense	0	Familial Cancer Database	HPS, HPS1-8	U81504	CCDS4041.1, CCDS64186.1	5q14.1	2014-09-17			ENSG00000132842	ENSG00000132842			566	protein-coding gene	gene with protein product		603401				9182526, 9151686	Standard	NM_003664		Approved	ADTB3A, HPS2	uc003kfj.4	O00203	OTTHUMG00000106919	ENST00000255194.6:c.1331A>G	5.37:g.77458675T>C	ENSP00000255194:p.Asn444Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	E5RJ68|O00580|Q7Z393|Q9HD66	Missense_Mutation	SNP	pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_AP3_complex_bsu	p.N444S	ENST00000255194.6	37	c.1331	CCDS4041.1	5	.	.	.	.	.	.	.	.	.	.	T	9.473	1.096234	0.20552	.	.	ENSG00000132842	ENST00000255194;ENST00000519295;ENST00000535760;ENST00000535667	T;T	0.12672	2.66;2.66	5.94	-0.621	0.11564	Clathrin/coatomer adaptor, adaptin-like, N-terminal (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.202316	0.64402	N	0.000013	T	0.04363	0.0120	N	0.05619	-0.005	0.38472	D	0.947503	B	0.12013	0.005	B	0.11329	0.006	T	0.46596	-0.9180	10	0.02654	T	1	-7.3074	6.6397	0.22903	0.0:0.2401:0.1145:0.6454	.	444	O00203	AP3B1_HUMAN	S	444;395;444;348	ENSP00000255194:N444S;ENSP00000430597:N395S	ENSP00000255194:N444S	N	-	2	0	AP3B1	77494431	0.985000	0.35326	0.931000	0.37212	0.930000	0.56654	1.884000	0.39668	-0.300000	0.08895	0.529000	0.55759	AAT	AP3B1	-	pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_AP3_complex_bsu	ENSG00000132842		0.393	AP3B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	AP3B1	HGNC	protein_coding	OTTHUMT00000225548.2	209	0.00	0	T			77458675	77458675	-1	no_errors	ENST00000255194	ensembl	human	known	69_37n	missense	277	14.77	48	SNP	1.000	C
APEX1	328	genome.wustl.edu	37	14	20923818	20923818	+	Missense_Mutation	SNP	G	G	C			TCGA-A8-A0A2-01A-11W-A050-09	TCGA-A8-A0A2-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b681dba3-a608-47c2-9ae8-5d761d1e800e	74e986b0-8284-4f30-8bbd-6132f40ed403	g.chr14:20923818G>C	ENST00000216714.3	+	2	282	c.14G>C	c.(13-15)gGg>gCg	p.G5A	APEX1_ENST00000398030.4_Missense_Mutation_p.G5A|OSGEP_ENST00000206542.4_5'Flank|APEX1_ENST00000557365.1_Intron|OSGEP_ENST00000556252.1_5'Flank|APEX1_ENST00000557054.1_Missense_Mutation_p.G5A|APEX1_ENST00000555414.1_Missense_Mutation_p.G5A	NM_001244249.1|NM_001641.3	NP_001231178.1|NP_001632.2	P27695	APEX1_HUMAN	APEX nuclease (multifunctional DNA repair enzyme) 1	5	Necessary for interaction with YBX1, binding to RNA, NPM1-dependent association with rRNA, endoribonuclease activity on abasic RNA and localization in the nucleoli.				aging (GO:0007568)|base-excision repair (GO:0006284)|cell redox homeostasis (GO:0045454)|cellular response to cAMP (GO:0071320)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to peptide hormone stimulus (GO:0071375)|DNA catabolic process, endonucleolytic (GO:0000737)|DNA catabolic process, exonucleolytic (GO:0000738)|DNA demethylation (GO:0080111)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|negative regulation of smooth muscle cell migration (GO:0014912)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|oxidation-reduction process (GO:0055114)|positive regulation of DNA repair (GO:0045739)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|regulation of mRNA stability (GO:0043488)|regulation of transcription, DNA-templated (GO:0006355)|response to drug (GO:0042493)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|mitochondrion (GO:0005739)|nuclear speck (GO:0016607)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|ribosome (GO:0005840)|transcription factor complex (GO:0005667)	3'-5' exonuclease activity (GO:0008408)|chromatin DNA binding (GO:0031490)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|DNA-(apurinic or apyrimidinic site) lyase activity (GO:0003906)|double-stranded DNA 3'-5' exodeoxyribonuclease activity (GO:0008311)|endodeoxyribonuclease activity (GO:0004520)|endonuclease activity (GO:0004519)|metal ion binding (GO:0046872)|oxidoreductase activity (GO:0016491)|phosphodiesterase I activity (GO:0004528)|phosphoric diester hydrolase activity (GO:0008081)|poly(A) RNA binding (GO:0044822)|RNA-DNA hybrid ribonuclease activity (GO:0004523)|site-specific endodeoxyribonuclease activity, specific for altered base (GO:0016890)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|uracil DNA N-glycosylase activity (GO:0004844)			breast(2)|endometrium(1)|large_intestine(4)|ovary(2)	9	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;1.09e-07)|all cancers(55;1.19e-06)	GBM - Glioblastoma multiforme(265;0.0224)|READ - Rectum adenocarcinoma(17;0.193)	Lucanthone(DB04967)	CCGAAGCGTGGGAAAAAGGGA	0.557								Other BER factors																														dbGAP											0													111.0	100.0	104.0					14																	20923818		2203	4300	6503	-	-	-	SO:0001583	missense	0			X59764	CCDS9550.1	14q11.2	2008-02-05	2002-09-11	2002-09-13	ENSG00000100823	ENSG00000100823	4.2.99.18		587	protein-coding gene	gene with protein product		107748	"""APEX nuclease (multifunctional DNA repair enzyme)"""	APEX			Standard	NM_001641		Approved	APE, REF1, HAP1, APX, APEN, REF-1, APE-1	uc021rnr.1	P27695	OTTHUMG00000029544	ENST00000216714.3:c.14G>C	14.37:g.20923818G>C	ENSP00000216714:p.Gly5Ala	Somatic		WXS	Illumina GAIIx	Phase_IV	Q969L5|Q99775	Missense_Mutation	SNP	pfam_Endo/exonuclease/phosphatase,superfamily_Endo/exonuclease/phosphatase,tigrfam_ExoDNase_III	p.G5A	ENST00000216714.3	37	c.14	CCDS9550.1	14	.	.	.	.	.	.	.	.	.	.	G	17.79	3.474809	0.63737	.	.	ENSG00000100823	ENST00000555414;ENST00000216714;ENST00000553681;ENST00000557344;ENST00000398030;ENST00000557181;ENST00000555839;ENST00000556054	T;T;T;T;T;T;T;T	0.69306	-0.39;-0.39;0.3;-0.27;-0.39;0.02;-0.23;0.23	5.89	5.89	0.94794	.	0.052117	0.85682	D	0.000000	T	0.58694	0.2140	L	0.39633	1.23	0.80722	D	1	B	0.21452	0.056	B	0.12837	0.008	T	0.52419	-0.8578	10	0.33940	T	0.23	.	15.7481	0.77962	0.0:0.0:1.0:0.0	.	5	P27695	APEX1_HUMAN	A	5	ENSP00000451979:G5A;ENSP00000216714:G5A;ENSP00000451327:G5A;ENSP00000452137:G5A;ENSP00000381111:G5A;ENSP00000452304:G5A;ENSP00000452460:G5A;ENSP00000451170:G5A	ENSP00000216714:G5A	G	+	2	0	APEX1	19993658	1.000000	0.71417	1.000000	0.80357	0.955000	0.61496	5.082000	0.64450	2.790000	0.95986	0.655000	0.94253	GGG	APEX1	-	NULL	ENSG00000100823		0.557	APEX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	APEX1	HGNC	protein_coding	OTTHUMT00000073641.3	374	0.00	0	G	NM_001641		20923818	20923818	+1	no_errors	ENST00000216714	ensembl	human	known	69_37n	missense	245	29.60	103	SNP	1.000	C
ARHGEF5	7984	genome.wustl.edu	37	7	144061204	144061204	+	Missense_Mutation	SNP	A	A	G	rs200716588	byFrequency	TCGA-A8-A0A2-01A-11W-A050-09	TCGA-A8-A0A2-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b681dba3-a608-47c2-9ae8-5d761d1e800e	74e986b0-8284-4f30-8bbd-6132f40ed403	g.chr7:144061204A>G	ENST00000056217.5	+	2	1616	c.1442A>G	c.(1441-1443)cAa>cGa	p.Q481R	ARHGEF5_ENST00000471847.2_5'Flank	NM_005435.3	NP_005426.2	Q12774	ARHG5_HUMAN	Rho guanine nucleotide exchange factor (GEF) 5	481					actin cytoskeleton organization (GO:0030036)|intracellular signal transduction (GO:0035556)|myeloid dendritic cell chemotaxis (GO:0002408)|positive regulation of podosome assembly (GO:0071803)|regulation of Rho GTPase activity (GO:0032319)		GTP binding (GO:0005525)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(1)|endometrium(6)|kidney(8)|large_intestine(9)|liver(1)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	Melanoma(164;0.14)					GAAATAGATCAAAACAGCCAG	0.537																																						dbGAP											0													17.0	15.0	16.0					7																	144061204		1415	2673	4088	-	-	-	SO:0001583	missense	0			U02082	CCDS34771.1	7q35	2012-09-20			ENSG00000050327	ENSG00000050327		"""Rho guanine nucleotide exchange factors"""	13209	protein-coding gene	gene with protein product	"""transforming immortalized mammary oncogene"", ""guanine nucleotide regulatory protein TIM"""	600888				8134109, 7656213	Standard	NM_005435		Approved	TIM, TIM1, GEF5, P60	uc003wel.3	Q12774	OTTHUMG00000158004	ENST00000056217.5:c.1442A>G	7.37:g.144061204A>G	ENSP00000056217:p.Gln481Arg	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NNJ2|Q6ZML7	Missense_Mutation	SNP	pfam_DH-domain,pfam_SH3_domain,pfam_SH3_2,superfamily_DH-domain,superfamily_SH3_domain,smart_DH-domain,smart_Pleckstrin_homology,smart_SH3_domain,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_DH-domain	p.Q481R	ENST00000056217.5	37	c.1442	CCDS34771.1	7	.	.	.	.	.	.	.	.	.	.	A	11.68	1.711258	0.30322	.	.	ENSG00000050327	ENST00000056217	T	0.75154	-0.91	3.98	1.43	0.22495	.	0.000000	0.34531	U	0.003886	T	0.59662	0.2210	L	0.43152	1.355	0.09310	N	0.999996	P	0.44877	0.845	B	0.38655	0.278	T	0.51973	-0.8637	9	.	.	.	0.0056	6.2996	0.21105	0.5943:0.0:0.0:0.4057	.	481	Q12774	ARHG5_HUMAN	R	481	ENSP00000056217:Q481R	.	Q	+	2	0	ARHGEF5	143692137	0.003000	0.15002	0.002000	0.10522	0.310000	0.27922	0.000000	0.12993	0.102000	0.17638	0.454000	0.30748	CAA	ARHGEF5	-	NULL	ENSG00000050327		0.537	ARHGEF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ARHGEF5	HGNC	protein_coding	OTTHUMT00000349981.1	8	0.00	0	A	NM_005435		144061204	144061204	+1	no_errors	ENST00000056217	ensembl	human	known	69_37n	missense	0	100.00	3	SNP	0.025	G
BRD8	10902	genome.wustl.edu	37	5	137506082	137506082	+	Missense_Mutation	SNP	C	C	T			TCGA-A8-A0A2-01A-11W-A050-09	TCGA-A8-A0A2-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b681dba3-a608-47c2-9ae8-5d761d1e800e	74e986b0-8284-4f30-8bbd-6132f40ed403	g.chr5:137506082C>T	ENST00000254900.5	-	7	828	c.457G>A	c.(457-459)Gaa>Aaa	p.E153K	BRD8_ENST00000411594.2_Missense_Mutation_p.E153K|BRD8_ENST00000230901.5_Missense_Mutation_p.E153K|BRD8_ENST00000402931.1_Missense_Mutation_p.E153K|BRD8_ENST00000455658.2_Missense_Mutation_p.E112K	NM_139199.1	NP_631938	Q9H0E9	BRD8_HUMAN	bromodomain containing 8	153					cell surface receptor signaling pathway (GO:0007166)|chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|intracellular receptor signaling pathway (GO:0030522)|regulation of growth (GO:0040008)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)	mitochondrion (GO:0005739)|NuA4 histone acetyltransferase complex (GO:0035267)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Swr1 complex (GO:0000812)	sequence-specific DNA binding transcription factor activity (GO:0003700)|thyroid hormone receptor activity (GO:0004887)			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(7)|lung(9)|ovary(1)|prostate(1)|skin(1)|stomach(3)|urinary_tract(1)	35			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			GCCTCCTCTTCTTCCAATTTC	0.428																																						dbGAP											0													192.0	163.0	172.0					5																	137506082		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF016270	CCDS4198.1, CCDS34241.1, CCDS54907.1	5q31	2008-02-05			ENSG00000112983	ENSG00000112983			19874	protein-coding gene	gene with protein product		602848				8611617, 9368056	Standard	NM_001164326		Approved	SMAP, p120	uc003lcf.1	Q9H0E9	OTTHUMG00000129204	ENST00000254900.5:c.457G>A	5.37:g.137506082C>T	ENSP00000254900:p.Glu153Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	O43178|Q15355|Q58AB0|Q59GN0|Q969M9	Missense_Mutation	SNP	pfam_Bromodomain,superfamily_Bromodomain,superfamily_Peptidase_M20_dimer,smart_Bromodomain,pfscan_Bromodomain,prints_Bromodomain	p.E153K	ENST00000254900.5	37	c.457	CCDS4198.1	5	.	.	.	.	.	.	.	.	.	.	C	36	5.805156	0.96967	.	.	ENSG00000112983	ENST00000254900;ENST00000454473;ENST00000418329;ENST00000230901;ENST00000402931;ENST00000411594;ENST00000239899;ENST00000455658;ENST00000453824	T;T;T;T;T;T;T	0.56776	0.71;0.44;0.55;0.7;0.66;0.54;0.61	5.98	5.98	0.97165	.	0.000000	0.85682	D	0.000000	T	0.64605	0.2613	L	0.32530	0.975	0.80722	D	1	D;D;D;D;D;D;D;D	0.69078	0.99;0.997;0.997;0.993;0.996;0.996;0.996;0.997	D;D;D;D;D;D;D;D	0.76071	0.979;0.98;0.985;0.956;0.987;0.981;0.987;0.985	T	0.60414	-0.7268	10	0.39692	T	0.17	-14.765	19.4463	0.94849	0.0:1.0:0.0:0.0	.	112;137;112;153;153;13;153;153	F8W820;B4DN43;B4DEG9;A8K1N6;Q9H0E9-4;Q9H0E9-3;Q9H0E9-2;Q9H0E9	.;.;.;.;.;.;.;BRD8_HUMAN	K	153;148;148;153;153;153;13;112;41	ENSP00000254900:E153K;ENSP00000398067:E148K;ENSP00000398873:E148K;ENSP00000230901:E153K;ENSP00000384845:E153K;ENSP00000394330:E153K;ENSP00000408396:E112K	ENSP00000230901:E153K	E	-	1	0	BRD8	137533981	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.382000	0.79729	2.835000	0.97688	0.650000	0.86243	GAA	BRD8	-	NULL	ENSG00000112983		0.428	BRD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	BRD8	HGNC	protein_coding	OTTHUMT00000251282.3	161	0.00	0	C	NM_006696		137506082	137506082	-1	no_errors	ENST00000254900	ensembl	human	known	69_37n	missense	121	33.88	62	SNP	1.000	T
CCDC178	374864	genome.wustl.edu	37	18	30554604	30554604	+	Missense_Mutation	SNP	C	C	A			TCGA-A8-A0A2-01A-11W-A050-09	TCGA-A8-A0A2-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b681dba3-a608-47c2-9ae8-5d761d1e800e	74e986b0-8284-4f30-8bbd-6132f40ed403	g.chr18:30554604C>A	ENST00000383096.3	-	22	2612	c.2430G>T	c.(2428-2430)gaG>gaT	p.E810D	CCDC178_ENST00000402325.1_Missense_Mutation_p.E760D|CCDC178_ENST00000403303.1_Missense_Mutation_p.E810D|CCDC178_ENST00000300227.8_Missense_Mutation_p.E772D|CCDC178_ENST00000579916.1_Missense_Mutation_p.E130D|CCDC178_ENST00000583930.1_Missense_Mutation_p.E834D|CCDC178_ENST00000579947.1_Missense_Mutation_p.E810D|CCDC178_ENST00000406524.2_Missense_Mutation_p.E834D|CCDC178_ENST00000581852.1_Missense_Mutation_p.E15D			Q5BJE1	CC178_HUMAN	coiled-coil domain containing 178	810																	GTTTGAAGTGCTCCTGCCACA	0.502																																						dbGAP											0													55.0	50.0	52.0					18																	30554604		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK126038	CCDS11906.1, CCDS42424.1	18q12.1	2012-10-15	2012-10-15	2012-10-15	ENSG00000166960	ENSG00000166960			29588	protein-coding gene	gene with protein product			"""chromosome 18 open reading frame 34"""	C18orf34			Standard	NM_198995		Approved	FLJ44050	uc002kxn.2	Q5BJE1	OTTHUMG00000132279	ENST00000383096.3:c.2430G>T	18.37:g.30554604C>A	ENSP00000372576:p.Glu810Asp	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NDC6|J3KS92|Q6ZP67|Q6ZU20	Missense_Mutation	SNP	NULL	p.E834D	ENST00000383096.3	37	c.2502	CCDS42424.1	18	.	.	.	.	.	.	.	.	.	.	C	8.405	0.842859	0.16963	.	.	ENSG00000166960	ENST00000403303;ENST00000383096;ENST00000300227;ENST00000406524;ENST00000402325	T;T;T;T;T	0.17854	2.32;2.32;2.36;2.3;2.25	5.5	3.68	0.42216	.	.	.	.	.	T	0.16981	0.0408	L	0.40543	1.245	0.25011	N	0.991402	P;P;P;P;P;P	0.41848	0.557;0.763;0.728;0.557;0.557;0.557	B;B;B;B;B;B	0.42282	0.366;0.382;0.346;0.366;0.366;0.366	T	0.08207	-1.0733	9	0.66056	D	0.02	-0.6888	8.9363	0.35702	0.1219:0.7441:0.0:0.134	.	834;810;760;810;772;810	F8W7A7;A1L4G8;Q5BJE1-3;B5MD75;Q5BJE1-2;Q5BJE1	.;.;.;.;.;CR034_HUMAN	D	810;810;772;834;760	ENSP00000385591:E810D;ENSP00000372576:E810D;ENSP00000300227:E772D;ENSP00000385867:E834D;ENSP00000385234:E760D	ENSP00000300227:E772D	E	-	3	2	C18orf34	28808602	0.998000	0.40836	0.996000	0.52242	0.904000	0.53231	0.537000	0.23144	0.649000	0.30751	0.563000	0.77884	GAG	C18orf34	-	NULL	ENSG00000166960		0.502	CCDC178-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	C18orf34	HGNC	protein_coding	OTTHUMT00000255373.2	68	0.00	0	C	NM_198995		30554604	30554604	-1	no_errors	ENST00000406524	ensembl	human	known	69_37n	missense	44	16.98	9	SNP	0.999	A
CD7	924	genome.wustl.edu	37	17	80274159	80274160	+	Frame_Shift_Ins	INS	-	-	T	rs569923406|rs200504177	byFrequency	TCGA-A8-A0A2-01A-11W-A050-09	TCGA-A8-A0A2-10A-01W-A055-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b681dba3-a608-47c2-9ae8-5d761d1e800e	74e986b0-8284-4f30-8bbd-6132f40ed403	g.chr17:80274159_80274160insT	ENST00000312648.3	-	3	629_630	c.523_524insA	c.(523-525)gcafs	p.A175fs	CD7_ENST00000583376.1_Frame_Shift_Ins_p.A75fs|CD7_ENST00000584284.1_Frame_Shift_Ins_p.A175fs|CD7_ENST00000578509.1_Frame_Shift_Ins_p.A75fs	NM_006137.6	NP_006128.1	P09564	CD7_HUMAN	CD7 molecule	175	4 X 9 AA tandem repeats, potential spacer function.				homeostasis of number of cells within a tissue (GO:0048873)|immune response (GO:0006955)|T cell activation (GO:0042110)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	receptor activity (GO:0004872)			endometrium(1)|large_intestine(1)|lung(3)|skin(2)|upper_aerodigestive_tract(1)	8	Breast(20;0.000675)|all_neural(118;0.0804)|Lung NSC(278;0.128)|all_lung(278;0.145)|Ovarian(332;0.249)		OV - Ovarian serous cystadenocarcinoma(97;0.00463)|BRCA - Breast invasive adenocarcinoma(99;0.0667)			GGCAGAGGCTGCTGGCGGGTCA	0.718													?|-|T|unsure	60	0.0119808	0.0008	0.0274	5008	,	,		11744	0.001		0.0338	False		,,,				2504	0.0051				Pancreas(45;804 1068 19702 28207 28798)	dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			X06180	CCDS11807.1	17q25.2-q25.3	2013-01-11	2006-03-28			ENSG00000173762		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"""	1695	protein-coding gene	gene with protein product	"""p41 protein"", ""T-cell antigen CD7"", ""T-cell leukemia antigen"""	186820	"""CD7 antigen (p41)"""			1695199, 3501369	Standard	NM_006137		Approved	GP40, LEU-9, TP41, Tp40	uc002kel.1	P09564		ENST00000312648.3:c.523_524insA	17.37:g.80274159_80274160insT	ENSP00000312027:p.Ala175fs	Somatic		WXS	Illumina GAIIx	Phase_IV		Frame_Shift_Ins	INS	pfam_Ig_V-set,pfam_Immunoglobulin,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like	p.A175fs	ENST00000312648.3	37	c.524_523	CCDS11807.1	17																																																																																			CD7	-	NULL	ENSG00000173762		0.718	CD7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CD7	HGNC	protein_coding	OTTHUMT00000442826.1	21	0.00	0	-	NM_006137		80274159	80274160	-1	no_errors	ENST00000312648	ensembl	human	known	69_37n	frame_shift_ins	10	23.08	3	INS	0.004:0.023	T
CLDN17	26285	genome.wustl.edu	37	21	31538360	31538360	+	Missense_Mutation	SNP	C	C	A			TCGA-A8-A0A2-01A-11W-A050-09	TCGA-A8-A0A2-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b681dba3-a608-47c2-9ae8-5d761d1e800e	74e986b0-8284-4f30-8bbd-6132f40ed403	g.chr21:31538360C>A	ENST00000286808.3	-	1	611	c.576G>T	c.(574-576)aaG>aaT	p.K192N		NM_012131.2	NP_036263.1	P56750	CLD17_HUMAN	claudin 17	192					calcium-independent cell-cell adhesion (GO:0016338)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|tight junction assembly (GO:0070830)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	identical protein binding (GO:0042802)|structural molecule activity (GO:0005198)			NS(1)|breast(1)|endometrium(2)|large_intestine(6)|lung(9)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	23						TGTACCCTTGCTTCTTTCTGT	0.502																																						dbGAP											0													165.0	156.0	159.0					21																	31538360		2203	4300	6503	-	-	-	SO:0001583	missense	0			AJ250712	CCDS13586.1	21q22.1	2008-07-31			ENSG00000156282	ENSG00000156282		"""Claudins"""	2038	protein-coding gene	gene with protein product						12736707	Standard	NM_012131		Approved	MGC126552, MGC126554	uc011acv.2	P56750	OTTHUMG00000081873	ENST00000286808.3:c.576G>T	21.37:g.31538360C>A	ENSP00000286808:p.Lys192Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	Q3MJB5|Q6UY37	Missense_Mutation	SNP	pfam_PMP22/EMP/MP20/Claudin,prints_Claudin,prints_Claudin14,prints_Claudin8	p.K192N	ENST00000286808.3	37	c.576	CCDS13586.1	21	.	.	.	.	.	.	.	.	.	.	C	5.449	0.268023	0.10349	.	.	ENSG00000156282	ENST00000286808	T	0.60548	0.18	4.63	2.81	0.32909	.	1.117670	0.06494	N	0.735138	T	0.28101	0.0693	N	0.08118	0	0.09310	N	1	P	0.36465	0.554	B	0.27608	0.081	T	0.19128	-1.0315	10	0.19590	T	0.45	.	1.0835	0.01647	0.157:0.4273:0.1524:0.2633	.	192	P56750	CLD17_HUMAN	N	192	ENSP00000286808:K192N	ENSP00000286808:K192N	K	-	3	2	CLDN17	30460231	0.000000	0.05858	0.718000	0.30602	0.883000	0.51084	-0.403000	0.07214	0.867000	0.35654	0.655000	0.94253	AAG	CLDN17	-	prints_Claudin8	ENSG00000156282		0.502	CLDN17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLDN17	HGNC	protein_coding	OTTHUMT00000182261.1	447	0.00	0	C	NM_012131		31538360	31538360	-1	no_errors	ENST00000286808	ensembl	human	known	69_37n	missense	236	21.33	64	SNP	0.000	A
CYP27A1	1593	genome.wustl.edu	37	2	219674428	219674428	+	Silent	SNP	C	C	T			TCGA-A8-A0A2-01A-11W-A050-09	TCGA-A8-A0A2-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b681dba3-a608-47c2-9ae8-5d761d1e800e	74e986b0-8284-4f30-8bbd-6132f40ed403	g.chr2:219674428C>T	ENST00000258415.4	+	2	811	c.384C>T	c.(382-384)aaC>aaT	p.N128N		NM_000784.3	NP_000775.1	Q02318	CP27A_HUMAN	cytochrome P450, family 27, subfamily A, polypeptide 1	128					bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cholesterol metabolic process (GO:0008203)|small molecule metabolic process (GO:0044281)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)	cholestanetriol 26-monooxygenase activity (GO:0047749)|cholesterol 26-hydroxylase activity (GO:0031073)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|steroid hydroxylase activity (GO:0008395)|vitamin D3 25-hydroxylase activity (GO:0030343)			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(13)|ovary(1)|prostate(3)|urinary_tract(1)	26		Renal(207;0.0474)		Epithelial(149;9.48e-07)|all cancers(144;0.000171)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.00981)	Chenodeoxycholic acid(DB06777)|Cholecalciferol(DB00169)|Ergocalciferol(DB00153)|Pegvisomant(DB00082)	CAGTACGGAACGACATGGAGC	0.612																																						dbGAP											0													149.0	126.0	133.0					2																	219674428		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			BC017044	CCDS2423.1	2q35	2013-09-19	2003-01-14		ENSG00000135929	ENSG00000135929		"""Cytochrome P450s"""	2605	protein-coding gene	gene with protein product	"""cerebrotendinous xanthomatosis"""	606530	"""cytochrome P450, subfamily XXVIIA (steroid 27-hydroxylase, cerebrotendinous xanthomatosis), polypeptide 1"""	CYP27		2019602	Standard	NM_000784		Approved	CTX, CP27	uc002viz.4	Q02318	OTTHUMG00000048238	ENST00000258415.4:c.384C>T	2.37:g.219674428C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K303|Q6LDB4|Q86YQ6	Silent	SNP	pfam_Cyt_P450,superfamily_Cyt_P450,prints_Cyt_P450_E_grp-I,prints_Cyt_P450_E_grp-IV,prints_Cyt_P450	p.N128	ENST00000258415.4	37	c.384	CCDS2423.1	2																																																																																			CYP27A1	-	pfam_Cyt_P450,superfamily_Cyt_P450	ENSG00000135929		0.612	CYP27A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CYP27A1	HGNC	protein_coding	OTTHUMT00000109734.4	160	0.00	0	C			219674428	219674428	+1	no_errors	ENST00000258415	ensembl	human	known	69_37n	silent	87	28.10	34	SNP	0.001	T
DOK5	55816	genome.wustl.edu	37	20	53205225	53205225	+	Splice_Site	SNP	G	G	T			TCGA-A8-A0A2-01A-11W-A050-09	TCGA-A8-A0A2-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b681dba3-a608-47c2-9ae8-5d761d1e800e	74e986b0-8284-4f30-8bbd-6132f40ed403	g.chr20:53205225G>T	ENST00000262593.5	+	4	639		c.e4-1		DOK5_ENST00000395939.1_Splice_Site	NM_018431.3	NP_060901.2	Q9P104	DOK5_HUMAN	docking protein 5						MAPK cascade (GO:0000165)|nervous system development (GO:0007399)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)		receptor signaling protein activity (GO:0005057)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(6)|lung(5)|ovary(1)|prostate(2)|skin(1)	19			Colorectal(105;0.202)			CATTTCCACAGATCTTGAGGC	0.488																																						dbGAP											0													150.0	147.0	148.0					20																	53205225		2203	4300	6503	-	-	-	SO:0001630	splice_region_variant	0			AF132732	CCDS13446.1, CCDS13447.1	20q13.2	2013-01-10	2002-11-28	2002-11-29	ENSG00000101134	ENSG00000101134		"""Pleckstrin homology (PH) domain containing"""	16173	protein-coding gene	gene with protein product		608334	"""chromosome 20 open reading frame 180"""	C20orf180		11470823	Standard	XM_005260451		Approved	dJ805C22.1	uc002xwy.3	Q9P104	OTTHUMG00000032778	ENST00000262593.5:c.290-1G>T	20.37:g.53205225G>T		Somatic		WXS	Illumina GAIIx	Phase_IV	Q5T7Y0|Q5TE53|Q8TEW7|Q96H13|Q9BZ24|Q9NQF4|Q9Y411	Splice_Site	SNP	-	e4-1	ENST00000262593.5	37	c.290-1	CCDS13446.1	20	.	.	.	.	.	.	.	.	.	.	G	24.9	4.580979	0.86748	.	.	ENSG00000101134	ENST00000262593	.	.	.	5.83	5.83	0.93111	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	19.0963	0.93253	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	DOK5	52638632	1.000000	0.71417	1.000000	0.80357	0.936000	0.57629	9.827000	0.99397	2.765000	0.95021	0.563000	0.77884	.	DOK5	-	-	ENSG00000101134		0.488	DOK5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DOK5	HGNC	protein_coding	OTTHUMT00000079777.2	315	0.00	0	G		Intron	53205225	53205225	+1	no_errors	ENST00000262593	ensembl	human	known	69_37n	splice_site	330	14.73	57	SNP	1.000	T
PDXDC2P	283970	genome.wustl.edu	37	16	70010517	70010519	+	RNA	DEL	TGT	TGT	-	rs372253115		TCGA-A8-A0A2-01A-11W-A050-09	TCGA-A8-A0A2-10A-01W-A055-09	TGT	TGT					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b681dba3-a608-47c2-9ae8-5d761d1e800e	74e986b0-8284-4f30-8bbd-6132f40ed403	g.chr16:70010517_70010519delTGT	ENST00000531894.1	-	0	3864_3866				RP11-419C5.2_ENST00000525562.1_RNA	NR_003610.1		Q6P474	PDXD2_HUMAN	pyridoxal-dependent decarboxylase domain containing 2, pseudogene						carboxylic acid metabolic process (GO:0019752)		carboxy-lyase activity (GO:0016831)|pyridoxal phosphate binding (GO:0030170)	p.Q253delQ(2)									AGTTATAGAATGTTGTTGAGTTG	0.507																																						dbGAP											2	Deletion - In frame(2)	breast(2)																																								-	-	-			0					16q22.1	2014-03-20	2010-09-02	2010-09-02	ENSG00000196696	ENSG00000196696			27559	pseudogene	pseudogene			"""pyridoxal-dependent decarboxylase domain containing 2"""	PDXDC2			Standard	NR_003610		Approved	DKFZp761H1120	uc010vlq.1	Q6P474	OTTHUMG00000167595		16.37:g.70010520_70010522delTGT		Somatic		WXS	Illumina GAIIx	Phase_IV	A8K9Z5	In_Frame_Del	DEL	pfam_NPIP	p.Q253in_frame_del	ENST00000531894.1	37	c.761_759		16																																																																																			RP11-419C5.2	-	pfam_NPIP	ENSG00000226232		0.507	PDXDC2P-001	KNOWN	basic|readthrough_transcript	processed_transcript	ENSG00000226232	Clone_based_vega_gene	processed_transcript	OTTHUMT00000395258.1	13	0.00	0	TGT			70010517	70010519	-1	no_errors	ENST00000532298	ensembl	human	novel	69_37n	in_frame_del	4	33.33	2	DEL	0.600:0.610:0.620	-
FAM208A	23272	genome.wustl.edu	37	3	56667624	56667624	+	Missense_Mutation	SNP	T	T	C			TCGA-A8-A0A2-01A-11W-A050-09	TCGA-A8-A0A2-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b681dba3-a608-47c2-9ae8-5d761d1e800e	74e986b0-8284-4f30-8bbd-6132f40ed403	g.chr3:56667624T>C	ENST00000493960.2	-	18	3205	c.3195A>G	c.(3193-3195)atA>atG	p.I1065M	FAM208A_ENST00000431842.2_Missense_Mutation_p.I628M|FAM208A_ENST00000355628.5_Missense_Mutation_p.I1004M	NM_001112736.1	NP_001106207.1	Q9UK61	F208A_HUMAN	family with sequence similarity 208, member A	1065							poly(A) RNA binding (GO:0044822)			NS(1)|breast(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(11)|prostate(3)|skin(1)	32						TCTTAGAATATATGAACTCGG	0.368																																						dbGAP											0													95.0	106.0	102.0					3																	56667624		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF180425	CCDS2877.1, CCDS46853.1	3p14.3	2011-09-14	2011-09-14	2011-09-14	ENSG00000163946	ENSG00000163946			30314	protein-coding gene	gene with protein product			"""chromosome 3 open reading frame 63"""	C3orf63		10470851, 11149944	Standard	NM_015224		Approved	se89-1, RAP140, KIAA1105	uc003die.4	Q9UK61	OTTHUMG00000158827	ENST00000493960.2:c.3195A>G	3.37:g.56667624T>C	ENSP00000417509:p.Ile1065Met	Somatic		WXS	Illumina GAIIx	Phase_IV	A1L3A4|B5ME28|Q9H2F7|Q9UPP7	Missense_Mutation	SNP	pfam_DUF3715	p.I1004M	ENST00000493960.2	37	c.3012	CCDS46853.1	3	.	.	.	.	.	.	.	.	.	.	T	11.13	1.548922	0.27652	.	.	ENSG00000163946	ENST00000431842;ENST00000493960;ENST00000355628	T;T;T	0.15139	2.45;2.64;2.63	5.86	1.91	0.25777	.	0.345330	0.31051	N	0.008344	T	0.14570	0.0352	L	0.46157	1.445	0.28652	N	0.906604	B;B;B;B	0.25563	0.045;0.129;0.042;0.027	B;B;B;B	0.29176	0.099;0.066;0.093;0.046	T	0.13764	-1.0497	10	0.87932	D	0	-3.9456	6.0185	0.19616	0.0:0.3095:0.1311:0.5594	.	1065;1004;628;1065	Q9UK61-3;Q9UK61-4;Q9UK61-2;Q9UK61	.;.;.;F208A_HUMAN	M	628;1065;1004	ENSP00000399410:I628M;ENSP00000417509:I1065M;ENSP00000347845:I1004M	ENSP00000347845:I1004M	I	-	3	3	C3orf63	56642664	0.927000	0.31430	1.000000	0.80357	0.973000	0.67179	-0.213000	0.09305	0.575000	0.29434	0.528000	0.53228	ATA	FAM208A	-	NULL	ENSG00000163946		0.368	FAM208A-004	PUTATIVE	basic|appris_principal|CCDS	protein_coding	FAM208A	HGNC	protein_coding	OTTHUMT00000352352.2	123	0.00	0	T	NM_015224		56667624	56667624	-1	no_errors	ENST00000355628	ensembl	human	known	69_37n	missense	82	32.23	39	SNP	0.996	C
FKBP1B	2281	genome.wustl.edu	37	2	24285915	24285915	+	Intron	SNP	C	C	A			TCGA-A8-A0A2-01A-11W-A050-09	TCGA-A8-A0A2-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b681dba3-a608-47c2-9ae8-5d761d1e800e	74e986b0-8284-4f30-8bbd-6132f40ed403	g.chr2:24285915C>A	ENST00000380986.4	+	4	334				FKBP1B_ENST00000380991.4_Silent_p.I75I|FKBP1B_ENST00000452109.1_Intron	NM_004116.3|NM_054033.2	NP_004107.1|NP_473374.1	P68106	FKB1B_HUMAN	FK506 binding protein 1B, 12.6 kDa						'de novo' protein folding (GO:0006458)|calcium ion transmembrane transport (GO:0070588)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|chaperone-mediated protein folding (GO:0061077)|cytosolic calcium ion homeostasis (GO:0051480)|insulin secretion (GO:0030073)|negative regulation of heart rate (GO:0010459)|negative regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061179)|negative regulation of protein phosphatase type 2B activity (GO:0032513)|negative regulation of release of sequestered calcium ion into cytosol (GO:0051280)|negative regulation of ryanodine-sensitive calcium-release channel activity (GO:0060315)|neuronal action potential propagation (GO:0019227)|positive regulation of axon regeneration (GO:0048680)|positive regulation of sequestering of calcium ion (GO:0051284)|protein maturation by protein folding (GO:0022417)|protein peptidyl-prolyl isomerization (GO:0000413)|protein refolding (GO:0042026)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to glucose (GO:0009749)|response to hydrogen peroxide (GO:0042542)|response to redox state (GO:0051775)|response to vitamin E (GO:0033197)|smooth muscle contraction (GO:0006939)|T cell proliferation (GO:0042098)	calcium channel complex (GO:0034704)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|sarcoplasmic reticulum membrane (GO:0033017)|Z disc (GO:0030018)	calcium channel inhibitor activity (GO:0019855)|cyclic nucleotide binding (GO:0030551)|FK506 binding (GO:0005528)|ion channel binding (GO:0044325)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|receptor binding (GO:0005102)			lung(2)	2	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CTCTCCCCATCTGCCCCCATC	0.522																																						dbGAP											0													77.0	63.0	67.0					2																	24285915		2203	4300	6503	-	-	-	SO:0001627	intron_variant	0			D38037	CCDS1706.1, CCDS33153.1	2p23.3	2013-03-20	2002-08-29		ENSG00000119782	ENSG00000119782			3712	protein-coding gene	gene with protein product	"""calstabin 2"""	600620	"""FK506-binding protein 1B (12.6 kD)"""	FKBP1L		7513996	Standard	NM_004116		Approved	OTK4, FKBP12.6, PPIase, FKBP9	uc002rer.3	P68106	OTTHUMG00000151889	ENST00000380986.4:c.199-19C>A	2.37:g.24285915C>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q13664|Q16645|Q53TM2|Q9BQ40	Silent	SNP	pfam_PPIase_FKBP_dom,pfscan_PPIase_FKBP_dom	p.I75	ENST00000380986.4	37	c.225	CCDS1706.1	2																																																																																			FKBP1B	-	NULL	ENSG00000119782		0.522	FKBP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	FKBP1B	HGNC	protein_coding	OTTHUMT00000207622.1	156	0.00	0	C	NM_004116		24285915	24285915	+1	no_errors	ENST00000380991	ensembl	human	known	69_37n	silent	131	16.56	26	SNP	0.998	A
GABRG2	2566	genome.wustl.edu	37	5	161576155	161576155	+	Missense_Mutation	SNP	G	G	T			TCGA-A8-A0A2-01A-11W-A050-09	TCGA-A8-A0A2-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b681dba3-a608-47c2-9ae8-5d761d1e800e	74e986b0-8284-4f30-8bbd-6132f40ed403	g.chr5:161576155G>T	ENST00000361925.4	+	8	1184	c.964G>T	c.(964-966)Gcc>Tcc	p.A322S	GABRG2_ENST00000414552.2_Missense_Mutation_p.A362S|GABRG2_ENST00000356592.3_Missense_Mutation_p.A322S|GABRG2_ENST00000393933.4_Missense_Mutation_p.A227S			P18507	GBRG2_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 2	322					adult behavior (GO:0030534)|cellular response to histamine (GO:0071420)|chloride transmembrane transport (GO:1902476)|gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|post-embryonic development (GO:0009791)|synaptic transmission (GO:0007268)|synaptic transmission, GABAergic (GO:0051932)|transmembrane transport (GO:0055085)|transport (GO:0006810)	axon (GO:0030424)|cell junction (GO:0030054)|chloride channel complex (GO:0034707)|cytoplasm (GO:0005737)|dendrite membrane (GO:0032590)|GABA-A receptor complex (GO:1902711)|inhibitory synapse (GO:0060077)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	benzodiazepine receptor activity (GO:0008503)|chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)	p.A322T(1)		NS(1)|breast(1)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(15)|lung(24)|ovary(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	62	Renal(175;0.000319)	Medulloblastoma(196;0.0208)|all_neural(177;0.0672)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0734)|OV - Ovarian serous cystadenocarcinoma(192;0.135)|Epithelial(171;0.136)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Ginkgo biloba(DB01381)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	CAGCACCATTGCCCGGAAATC	0.473																																						dbGAP											1	Substitution - Missense(1)	endometrium(1)											226.0	183.0	198.0					5																	161576155		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS4358.1, CCDS4359.1, CCDS47333.1	5q34	2012-06-22			ENSG00000113327	ENSG00000113327		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4087	protein-coding gene	gene with protein product	"""GABA(A) receptor, gamma 2"""	137164					Standard	NM_198904		Approved		uc010jjc.3	P18507	OTTHUMG00000130350	ENST00000361925.4:c.964G>T	5.37:g.161576155G>T	ENSP00000354651:p.Ala322Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	F5HB82|Q6GRL6|Q6PCC3|Q9UDB3|Q9UN15	Missense_Mutation	SNP	pfam_Neur_chan_lig-bd,pfam_Neurotrans-gated_channel_TM,superfamily_Neur_chan_lig-bd,superfamily_Neurotrans-gated_channel_TM,prints_GABBAg_rcpt,prints_GABAA_rcpt,prints_GABBAg2_rcpt,prints_GABAAa_rcpt,prints_Neur_channel,tigrfam_Neur_channel	p.A322S	ENST00000361925.4	37	c.964	CCDS4358.1	5	.	.	.	.	.	.	.	.	.	.	G	17.60	3.430695	0.62844	.	.	ENSG00000113327	ENST00000356592;ENST00000414552;ENST00000361925;ENST00000393933	D;D;D;D	0.86164	-2.08;-2.08;-2.08;-2.08	5.73	5.73	0.89815	Neurotransmitter-gated ion-channel transmembrane domain (2);	0.046057	0.85682	D	0.000000	D	0.88104	0.6347	N	0.17901	0.54	0.80722	D	1	P;B;B	0.35383	0.498;0.155;0.128	P;B;B	0.52909	0.713;0.252;0.264	D	0.85792	0.1368	10	0.34782	T	0.22	.	19.8994	0.96980	0.0:0.0:1.0:0.0	.	362;322;322	F5HB82;P18507;P18507-2	.;GBRG2_HUMAN;.	S	322;362;322;227	ENSP00000349000:A322S;ENSP00000410732:A362S;ENSP00000354651:A322S;ENSP00000377510:A227S	ENSP00000349000:A322S	A	+	1	0	GABRG2	161508733	1.000000	0.71417	0.998000	0.56505	0.978000	0.69477	5.495000	0.66912	2.703000	0.92315	0.650000	0.86243	GCC	GABRG2	-	pfam_Neurotrans-gated_channel_TM,superfamily_Neurotrans-gated_channel_TM,prints_GABAA_rcpt,tigrfam_Neur_channel	ENSG00000113327		0.473	GABRG2-002	KNOWN	basic|CCDS	protein_coding	GABRG2	HGNC	protein_coding	OTTHUMT00000252706.1	336	0.00	0	G			161576155	161576155	+1	no_errors	ENST00000356592	ensembl	human	known	69_37n	missense	301	11.44	39	SNP	1.000	T
KALRN	8997	genome.wustl.edu	37	3	124431854	124431855	+	Frame_Shift_Ins	INS	-	-	A			TCGA-A8-A0A2-01A-11W-A050-09	TCGA-A8-A0A2-10A-01W-A055-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b681dba3-a608-47c2-9ae8-5d761d1e800e	74e986b0-8284-4f30-8bbd-6132f40ed403	g.chr3:124431854_124431855insA	ENST00000291478.5	+	25	3220_3221	c.3057_3058insA	c.(3058-3060)aaafs	p.K1020fs	KALRN_ENST00000428018.2_Frame_Shift_Ins_p.K988fs|KALRN_ENST00000360013.3_Frame_Shift_Ins_p.K2717fs	NM_007064.3	NP_008995.2	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	2716					apoptotic signaling pathway (GO:0097190)|intracellular signal transduction (GO:0035556)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|protein phosphorylation (GO:0006468)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						AATTTGTTAGCAAAAAAATGAA	0.47																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			U94190	CCDS3027.1, CCDS3028.1	3q21.2	2013-02-11	2005-03-11	2005-03-12	ENSG00000160145	ENSG00000160145		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	4814	protein-coding gene	gene with protein product	"""serine/threonine kinase with Dbl and pleckstrin homology domains"""	604605	"""huntingtin-associated protein interacting protein (duo)"""	HAPIP		9285789, 10023074	Standard	NM_001024660		Approved	duo, Hs.8004, TRAD, DUET, Kalirin, ARHGEF24	uc003ehd.3	O60229	OTTHUMG00000125545	ENST00000291478.5:c.3064dupA	3.37:g.124431861_124431861dupA	ENSP00000291478:p.Lys1020fs	Somatic		WXS	Illumina GAIIx	Phase_IV	A8MSI4|C9JQ37|Q6ZN45|Q8TBQ5|Q9NSZ4|Q9Y2A5	Frame_Shift_Ins	INS	pfam_DH-domain,pfam_Prot_kinase_cat_dom,pfam_Spectrin_repeat,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Ig_I-set,pfam_Fibronectin_type3,pfam_Ig_V-set,pfam_Immunoglobulin,superfamily_Kinase-like_dom,superfamily_DH-domain,superfamily_Fibronectin_type3,superfamily_SH3_domain,superfamily_CRAL-TRIO_dom,smart_CRAL-TRIO_dom,smart_Spectrin/alpha-actinin,smart_DH-domain,smart_Pleckstrin_homology,smart_SH3_domain,smart_Ig_sub,smart_Ig_sub2,smart_Fibronectin_type3,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_CRAL-TRIO_dom,pfscan_Fibronectin_type3,pfscan_Pleckstrin_homology,pfscan_SH3_domain,pfscan_Prot_kinase_cat_dom,pfscan_Ig-like,pfscan_DH-domain	p.M2718fs	ENST00000291478.5	37	c.8148_8149	CCDS3028.1	3																																																																																			KALRN	-	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	ENSG00000160145		0.470	KALRN-001	KNOWN	basic|CCDS	protein_coding	KALRN	HGNC	protein_coding	OTTHUMT00000246891.5	128	0.00	0	-	NM_003947		124431854	124431855	+1	no_errors	ENST00000360013	ensembl	human	known	69_37n	frame_shift_ins	138	11.54	18	INS	1.000:1.000	A
KCNC3	3748	genome.wustl.edu	37	19	50827193	50827193	+	Silent	SNP	G	G	A	rs371799397		TCGA-A8-A0A2-01A-11W-A050-09	TCGA-A8-A0A2-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b681dba3-a608-47c2-9ae8-5d761d1e800e	74e986b0-8284-4f30-8bbd-6132f40ed403	g.chr19:50827193G>A	ENST00000477616.1	-	2	1311	c.1017C>T	c.(1015-1017)aaC>aaT	p.N339N	KCNC3_ENST00000391818.2_Intron|KCNC3_ENST00000376959.2_Silent_p.N339N|KCNC3_ENST00000474951.1_Intron	NM_004977.2	NP_004968.2	Q14003	KCNC3_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 3	339					cell death (GO:0008219)|potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|regulation of neurotransmitter secretion (GO:0046928)|synaptic transmission (GO:0007268)	axolemma (GO:0030673)|axon terminus (GO:0043679)|dendrite membrane (GO:0032590)|neuromuscular junction (GO:0031594)|neuronal cell body membrane (GO:0032809)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|voltage-gated potassium channel activity (GO:0005249)			endometrium(2)|large_intestine(4)|lung(5)|pancreas(1)|skin(1)	13		all_neural(266;0.057)|Ovarian(192;0.208)		OV - Ovarian serous cystadenocarcinoma(262;0.00283)|GBM - Glioblastoma multiforme(134;0.0181)	Dalfampridine(DB06637)	CCACCTCCACGTTGGTGATGT	0.602																																					Melanoma(91;1496 2324 50908)	dbGAP											0													125.0	99.0	108.0					19																	50827193		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB208930	CCDS12793.1	19q13.33	2014-09-17			ENSG00000131398	ENSG00000131398		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6235	protein-coding gene	gene with protein product		176264	"""spinocerebellar ataxia 13"""	SCA13		1740329, 8111118, 16382104	Standard	NM_004977		Approved	Kv3.3	uc002pru.1	Q14003	OTTHUMG00000044580	ENST00000477616.1:c.1017C>T	19.37:g.50827193G>A		Somatic		WXS	Illumina GAIIx	Phase_IV		Silent	SNP	pfam_Ion_trans_dom,pfam_T1-type_BTB,pfam_Ion_trans_2,pfam_K_chnl_volt-dep_Kv3_ID,superfamily_BTB/POZ_fold,smart_BTB/POZ-like,prints_K_chnl,prints_K_chnl_volt-dep_Kv3.3,prints_K_chnl_volt-dep_Kv3,prints_K_chnl_volt-dep_Kv	p.N339	ENST00000477616.1	37	c.1017	CCDS12793.1	19																																																																																			KCNC3	-	NULL	ENSG00000131398		0.602	KCNC3-005	KNOWN	basic|appris_principal|CCDS	protein_coding	KCNC3	HGNC	protein_coding	OTTHUMT00000314288.2	102	0.00	0	G	NM_004977		50827193	50827193	-1	no_errors	ENST00000477616	ensembl	human	known	69_37n	silent	65	15.58	12	SNP	0.216	A
KRT12	3859	genome.wustl.edu	37	17	39022941	39022941	+	Silent	SNP	A	A	G			TCGA-A8-A0A2-01A-11W-A050-09	TCGA-A8-A0A2-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b681dba3-a608-47c2-9ae8-5d761d1e800e	74e986b0-8284-4f30-8bbd-6132f40ed403	g.chr17:39022941A>G	ENST00000251643.4	-	1	521	c.498T>C	c.(496-498)acT>acC	p.T166T		NM_000223.3	NP_000214.1	Q99456	K1C12_HUMAN	keratin 12	166	Linker 1.|Rod.				visual perception (GO:0007601)	extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)			central_nervous_system(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(5)|ovary(2)|upper_aerodigestive_tract(2)	15		Breast(137;0.000301)			Griseofulvin(DB00400)	CTGCAGTCCCAGTTCCTCGTG	0.418																																						dbGAP											0													128.0	128.0	128.0					17																	39022941		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS11378.1	17q21.2	2013-06-20	2008-08-01		ENSG00000187242	ENSG00000187242		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6414	protein-coding gene	gene with protein product	"""Meesmann corneal dystrophy"""	601687				9171831, 16831889	Standard	NM_000223		Approved	K12	uc002hvk.2	Q99456	OTTHUMG00000133369	ENST00000251643.4:c.498T>C	17.37:g.39022941A>G		Somatic		WXS	Illumina GAIIx	Phase_IV	B2R9E0	Silent	SNP	pfam_F,superfamily_Prefoldin,prints_Keratin_I	p.T166	ENST00000251643.4	37	c.498	CCDS11378.1	17																																																																																			KRT12	-	pfam_F	ENSG00000187242		0.418	KRT12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	KRT12	HGNC	protein_coding	OTTHUMT00000257214.2	67	0.00	0	A	NM_000223		39022941	39022941	-1	no_errors	ENST00000251643	ensembl	human	known	69_37n	silent	48	26.87	18	SNP	0.002	G
LAMB3	3914	genome.wustl.edu	37	1	209806016	209806016	+	Missense_Mutation	SNP	C	C	T	rs114886812	byFrequency	TCGA-A8-A0A2-01A-11W-A050-09	TCGA-A8-A0A2-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b681dba3-a608-47c2-9ae8-5d761d1e800e	74e986b0-8284-4f30-8bbd-6132f40ed403	g.chr1:209806016C>T	ENST00000356082.4	-	8	868	c.734G>A	c.(733-735)cGt>cAt	p.R245H	LAMB3_ENST00000367030.3_Missense_Mutation_p.R245H|LAMB3_ENST00000391911.1_Missense_Mutation_p.R245H	NM_000228.2	NP_000219.2	Q13751	LAMB3_HUMAN	laminin, beta 3	245	Laminin N-terminal. {ECO:0000255|PROSITE- ProRule:PRU00466}.				brown fat cell differentiation (GO:0050873)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|endodermal cell differentiation (GO:0035987)|epidermis development (GO:0008544)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	extracellular region (GO:0005576)|laminin-5 complex (GO:0005610)	structural molecule activity (GO:0005198)	p.R245H(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45				OV - Ovarian serous cystadenocarcinoma(81;0.0519)		CCCCTGCAGACGGAGCTGGGA	0.632													C|||	6	0.00119808	0.0	0.0	5008	,	,		16167	0.005		0.001	False		,,,				2504	0.0					dbGAP											1	Substitution - Missense(1)	prostate(1)											47.0	51.0	49.0					1																	209806016		2203	4300	6503	-	-	-	SO:0001583	missense	0			D37766	CCDS1487.1	1q32	2013-03-01	2002-08-29		ENSG00000196878	ENSG00000196878		"""Laminins"""	6490	protein-coding gene	gene with protein product		150310	"""laminin, beta 3 (nicein (125kD), kalinin (140kD), BM600 (125kD))"""	LAMNB1		8088808, 7774918	Standard	NM_001127641		Approved	nicein-125kDa, kalinin-140kDa, BM600-125kDa	uc001hhh.3	Q13751	OTTHUMG00000036360	ENST00000356082.4:c.734G>A	1.37:g.209806016C>T	ENSP00000348384:p.Arg245His	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DT88|O14947|Q14733|Q9UJK4|Q9UJL1	Missense_Mutation	SNP	pfam_EGF_laminin,pfam_Laminin_N,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,pfscan_EGF_laminin,pfscan_Laminin_N	p.R245H	ENST00000356082.4	37	c.734	CCDS1487.1	1	4	0.0018315018315018315	0	0.0	0	0.0	3	0.005244755244755245	1	0.0013192612137203166	C	14.35	2.510412	0.44660	.	.	ENSG00000196878	ENST00000391911;ENST00000356082;ENST00000367030	T;T;T	0.37235	1.21;1.21;1.21	4.46	4.46	0.54185	Laminin, N-terminal (2);	0.055623	0.64402	D	0.000001	T	0.44265	0.1285	M	0.63428	1.95	0.37960	D	0.932938	D;D	0.76494	0.999;0.999	D;D	0.72075	0.976;0.971	T	0.53049	-0.8493	10	0.48119	T	0.1	.	9.3405	0.38076	0.0:0.8626:0.0:0.1374	.	245;245	B4DL55;Q13751	.;LAMB3_HUMAN	H	245	ENSP00000375778:R245H;ENSP00000348384:R245H;ENSP00000355997:R245H	ENSP00000348384:R245H	R	-	2	0	LAMB3	207872639	0.553000	0.26513	0.998000	0.56505	0.214000	0.24535	0.962000	0.29280	2.485000	0.83878	0.456000	0.33151	CGT	LAMB3	-	smart_Laminin_N,pfscan_Laminin_N	ENSG00000196878		0.632	LAMB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LAMB3	HGNC	protein_coding	OTTHUMT00000088525.2	141	0.00	0	C	NM_000228		209806016	209806016	-1	no_errors	ENST00000356082	ensembl	human	known	69_37n	missense	132	13.73	21	SNP	0.938	T
LRFN5	145581	genome.wustl.edu	37	14	42361011	42361011	+	Silent	SNP	C	C	A			TCGA-A8-A0A2-01A-11W-A050-09	TCGA-A8-A0A2-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b681dba3-a608-47c2-9ae8-5d761d1e800e	74e986b0-8284-4f30-8bbd-6132f40ed403	g.chr14:42361011C>A	ENST00000298119.4	+	4	3133	c.1944C>A	c.(1942-1944)ggC>ggA	p.G648G	LRFN5_ENST00000554120.1_Intron|LRFN5_ENST00000554171.1_Intron	NM_152447.3	NP_689660.2	Q96NI6	LRFN5_HUMAN	leucine rich repeat and fibronectin type III domain containing 5	648						integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(67)|ovary(5)|pancreas(3)|prostate(1)|skin(9)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(2)	120			LUAD - Lung adenocarcinoma(50;0.0223)|Lung(238;0.0728)	GBM - Glioblastoma multiforme(112;0.00847)		GAAAGACTGGCACAAAGCCAA	0.468										HNSCC(30;0.082)																												dbGAP											0													100.0	81.0	88.0					14																	42361011		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK055365	CCDS9678.1	14q21.1	2013-02-11	2004-02-02	2004-02-04	ENSG00000165379	ENSG00000165379		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	20360	protein-coding gene	gene with protein product	"""fibronectin type III, immunoglobulin and leucine rich repeat domains 8"""	612811	"""chromosome 14 open reading frame 146"""	C14orf146		16828986	Standard	NM_152447		Approved	FIGLER8, SALM5	uc001wvm.3	Q96NI6	OTTHUMG00000140261	ENST00000298119.4:c.1944C>A	14.37:g.42361011C>A		Somatic		WXS	Illumina GAIIx	Phase_IV	B3KU78|Q86XL2	Silent	SNP	pfam_Leu-rich_rpt,pfam_Ig_I-set,pfam_Immunoglobulin,superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,smart_Ig_sub,smart_Ig_sub2,pfscan_Fibronectin_type3,pfscan_Ig-like	p.G648	ENST00000298119.4	37	c.1944	CCDS9678.1	14																																																																																			LRFN5	-	NULL	ENSG00000165379		0.468	LRFN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRFN5	HGNC	protein_coding	OTTHUMT00000276786.1	129	0.00	0	C	NM_152447		42361011	42361011	+1	no_errors	ENST00000298119	ensembl	human	known	69_37n	silent	118	14.49	20	SNP	0.315	A
MAGED1	9500	genome.wustl.edu	37	X	51638306	51638306	+	Missense_Mutation	SNP	C	C	T			TCGA-A8-A0A2-01A-11W-A050-09	TCGA-A8-A0A2-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b681dba3-a608-47c2-9ae8-5d761d1e800e	74e986b0-8284-4f30-8bbd-6132f40ed403	g.chrX:51638306C>T	ENST00000375722.1	+	3	455	c.203C>T	c.(202-204)tCa>tTa	p.S68L	MAGED1_ENST00000494718.1_3'UTR|MAGED1_ENST00000375695.2_Missense_Mutation_p.S124L|MAGED1_ENST00000375772.3_Missense_Mutation_p.S68L|MAGED1_ENST00000326587.7_Missense_Mutation_p.S68L			Q9Y5V3	MAGD1_HUMAN	melanoma antigen family D, 1	68					apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|circadian regulation of gene expression (GO:0032922)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of apoptotic process (GO:0042981)|regulation of circadian rhythm (GO:0042752)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	transcription coactivator activity (GO:0003713)			breast(1)|endometrium(4)|large_intestine(10)|lung(13)|ovary(3)|upper_aerodigestive_tract(1)	32	Ovarian(276;0.236)					ATTCAGGTTTCAGCAGCTGCC	0.527										Multiple Myeloma(10;0.10)			C|||	2	0.000529801	0.0015	0.0	3775	,	,		11655	0.0		0.0	False		,,,				2504	0.0					dbGAP											0													42.0	35.0	37.0					X																	51638306		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF124440	CCDS14337.1, CCDS35279.1	Xp11.23	2008-08-01			ENSG00000179222	ENSG00000179222			6813	protein-coding gene	gene with protein product		300224				10409427	Standard	NM_006986		Approved	NRAGE, DLXIN-1	uc004dpn.3	Q9Y5V3	OTTHUMG00000021540	ENST00000375722.1:c.203C>T	X.37:g.51638306C>T	ENSP00000364874:p.Ser68Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	Q5VSH6|Q8IZ84|Q8WY92|Q9H352|Q9HBT4|Q9UF36	Missense_Mutation	SNP	pfam_MAGE,pfscan_MAGE	p.S124L	ENST00000375722.1	37	c.371	CCDS14337.1	X	.	.	.	.	.	.	.	.	.	.	C	8.220	0.802294	0.16397	.	.	ENSG00000179222	ENST00000375772;ENST00000375722;ENST00000326587;ENST00000375695;ENST00000430189	T;T;T;T	0.22336	1.96;1.96;1.96;1.96	3.27	0.0891	0.14457	.	0.558634	0.13600	N	0.375902	T	0.08802	0.0218	N	0.08118	0	0.26840	N	0.968383	B;B;B	0.21520	0.004;0.015;0.057	B;B;B	0.14023	0.003;0.01;0.007	T	0.26916	-1.0089	10	0.37606	T	0.19	.	5.4347	0.16474	0.0:0.5062:0.0:0.4938	.	68;124;68	B4DQ04;Q9Y5V3-2;Q9Y5V3	.;.;MAGD1_HUMAN	L	68;68;68;124;68	ENSP00000364927:S68L;ENSP00000364874:S68L;ENSP00000325333:S68L;ENSP00000364847:S124L	ENSP00000325333:S68L	S	+	2	0	MAGED1	51655046	0.995000	0.38212	0.910000	0.35882	0.980000	0.70556	-0.081000	0.11321	-0.088000	0.12506	0.458000	0.33432	TCA	MAGED1	-	NULL	ENSG00000179222		0.527	MAGED1-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	MAGED1	HGNC	protein_coding	OTTHUMT00000056593.1	52	0.00	0	C	NM_001005332		51638306	51638306	+1	no_errors	ENST00000375695	ensembl	human	known	69_37n	missense	16	27.27	6	SNP	0.904	T
PCDHB5	26167	genome.wustl.edu	37	5	140516085	140516085	+	Nonsense_Mutation	SNP	G	G	T			TCGA-A8-A0A2-01A-11W-A050-09	TCGA-A8-A0A2-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b681dba3-a608-47c2-9ae8-5d761d1e800e	74e986b0-8284-4f30-8bbd-6132f40ed403	g.chr5:140516085G>T	ENST00000231134.5	+	1	1286	c.1069G>T	c.(1069-1071)Gaa>Taa	p.E357*		NM_015669.2	NP_056484.1	Q9Y5E4	PCDB5_HUMAN	protocadherin beta 5	357	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|kidney(1)|large_intestine(18)|lung(25)|ovary(3)|prostate(6)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(2)	81			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CCCTACCCCAGAAAATGCCCC	0.517																																						dbGAP											0													86.0	93.0	91.0					5																	140516085		2203	4300	6503	-	-	-	SO:0001587	stop_gained	0			AF152498	CCDS4247.1	5q31	2010-01-26			ENSG00000113209	ENSG00000113209		"""Cadherins / Protocadherins : Clustered"""	8690	other	protocadherin		606331				10380929	Standard	NM_015669		Approved	DKFZp586B0217, PCDH-BETA5	uc003liq.3	Q9Y5E4	OTTHUMG00000129616	ENST00000231134.5:c.1069G>T	5.37:g.140516085G>T	ENSP00000231134:p.Glu357*	Somatic		WXS	Illumina GAIIx	Phase_IV	Q549F4|Q9UFU9	Nonsense_Mutation	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.E357*	ENST00000231134.5	37	c.1069	CCDS4247.1	5	.	.	.	.	.	.	.	.	.	.	G	23.5	4.420540	0.83559	.	.	ENSG00000113209	ENST00000231134;ENST00000537936	.	.	.	5.17	5.17	0.71159	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	19.0192	0.92906	0.0:0.0:1.0:0.0	.	.	.	.	X	357;141	.	ENSP00000231134:E357X	E	+	1	0	PCDHB5	140496269	1.000000	0.71417	1.000000	0.80357	0.102000	0.19082	9.567000	0.98161	2.577000	0.86979	0.555000	0.69702	GAA	PCDHB5	-	pfam_Cadherin,superfamily_Cadherin-like,pfscan_Cadherin	ENSG00000113209		0.517	PCDHB5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHB5	HGNC	protein_coding	OTTHUMT00000251811.1	120	0.00	0	G	NM_015669		140516085	140516085	+1	no_errors	ENST00000231134	ensembl	human	known	69_37n	nonsense	129	16.77	26	SNP	1.000	T
PDCD1	5133	genome.wustl.edu	37	2	242794881	242794881	+	Missense_Mutation	SNP	C	C	T	rs190602950		TCGA-A8-A0A2-01A-11W-A050-09	TCGA-A8-A0A2-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b681dba3-a608-47c2-9ae8-5d761d1e800e	74e986b0-8284-4f30-8bbd-6132f40ed403	g.chr2:242794881C>T	ENST00000334409.5	-	2	397	c.328G>A	c.(328-330)Gtg>Atg	p.V110M		NM_005018.2	NP_005009.2	Q15116	PDCD1_HUMAN	programmed cell death 1	110	Ig-like V-type.				apoptotic process (GO:0006915)|humoral immune response (GO:0006959)|multicellular organismal development (GO:0007275)|signal transduction (GO:0007165)|T cell costimulation (GO:0031295)	external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	signal transducer activity (GO:0004871)			endometrium(1)|lung(2)|ovary(1)|prostate(3)|skin(1)	8		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;3.84e-33)|all cancers(36;8.08e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.41e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0219)		GCCCTGACCACGCTCATGTGG	0.677													C|||	1	0.000199681	0.0	0.0014	5008	,	,		15651	0.0		0.0	False		,,,				2504	0.0					dbGAP											0													48.0	51.0	50.0					2																	242794881		2203	4300	6503	-	-	-	SO:0001583	missense	0			AY206416	CCDS33428.1	2q37.3	2014-01-29			ENSG00000188389	ENSG00000188389		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"""	8760	protein-coding gene	gene with protein product		600244	"""systemic lupus erythematosus susceptibility 2"""	SLEB2		7851902, 12402038	Standard	NM_005018		Approved	CD279, PD1, hSLE1	uc002wcq.4	Q15116	OTTHUMG00000151342	ENST00000334409.5:c.328G>A	2.37:g.242794881C>T	ENSP00000335062:p.Val110Met	Somatic		WXS	Illumina GAIIx	Phase_IV	O00517|Q8IX89	Missense_Mutation	SNP	pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like	p.V110M	ENST00000334409.5	37	c.328	CCDS33428.1	2	1|1	4.578754578754579E-4|4.578754578754579E-4	0|0	0.0|0.0	1|1	0.0027624309392265192|0.0027624309392265192	0|0	0.0|0.0	0|0	0.0|0.0	.|.	10.22|10.22	1.290846|1.290846	0.23564|0.23564	.|.	.|.	ENSG00000188389|ENSG00000188389	ENST00000343705|ENST00000334409;ENST00000539073	.|T	.|0.64803	.|-0.12	3.54|3.54	-6.56|-6.56	0.01848|0.01848	.|Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin V-set, subgroup (1);Immunoglobulin-like fold (1);	.|1.336370	.|0.05208	.|N	.|0.506261	T|T	0.59865|0.59865	0.2225|0.2225	L|L	0.40543|0.40543	1.245|1.245	0.09310|0.09310	N|N	1|1	.|D;D	.|0.58970	.|0.984;0.984	.|P;P	.|0.53490	.|0.727;0.727	T|T	0.64529|0.64529	-0.6386|-0.6386	5|10	.|0.87932	.|D	.|0	-16.5128|-16.5128	8.1539|8.1539	0.31156|0.31156	0.0:0.16:0.1303:0.7098|0.0:0.16:0.1303:0.7098	.|.	.|110;110	.|Q8IX89;Q15116	.|.;PDCD1_HUMAN	H|M	53|110	.|ENSP00000335062:V110M	.|ENSP00000335062:V110M	R|V	-|-	2|1	0|0	PDCD1|PDCD1	242443554|242443554	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.008000|0.008000	0.06430|0.06430	-1.222000|-1.222000	0.02965|0.02965	-1.613000|-1.613000	0.01577|0.01577	-0.348000|-0.348000	0.07805|0.07805	CGT|GTG	PDCD1	-	pfam_Ig_V-set,smart_Ig_sub,smart_Ig_V-set_subgr,pfscan_Ig-like	ENSG00000188389		0.677	PDCD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PDCD1	HGNC	protein_coding	OTTHUMT00000322313.1	40	0.00	0	C	NM_005018		242794881	242794881	-1	no_errors	ENST00000334409	ensembl	human	known	69_37n	missense	8	42.86	6	SNP	0.000	T
RNF34	80196	genome.wustl.edu	37	12	121855406	121855406	+	Frame_Shift_Del	DEL	G	G	-			TCGA-A8-A0A2-01A-11W-A050-09	TCGA-A8-A0A2-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b681dba3-a608-47c2-9ae8-5d761d1e800e	74e986b0-8284-4f30-8bbd-6132f40ed403	g.chr12:121855406delG	ENST00000392464.2	+	3	394	c.325delG	c.(325-327)gcafs	p.A109fs	RNF34_ENST00000361234.5_Frame_Shift_Del_p.A109fs|RNF34_ENST00000555076.1_Intron|RNF34_ENST00000392465.3_Frame_Shift_Del_p.A110fs					ring finger protein 34, E3 ubiquitin protein ligase											breast(1)|large_intestine(1)	2	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)			OV - Ovarian serous cystadenocarcinoma(86;0.000432)|Epithelial(86;0.00233)		ACAAGAGACAGCATTTCAGCG	0.423																																						dbGAP											0													91.0	85.0	87.0					12																	121855406		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0			AF306709, AB084914	CCDS9221.1, CCDS31915.1, CCDS73538.1	12q24.31	2012-02-23	2012-02-23			ENSG00000170633		"""RING-type (C3HC4) zinc fingers"""	17297	protein-coding gene	gene with protein product		608299	"""ring finger protein 34"""			12118383	Standard	NM_025126		Approved	RIFF, FLJ21786, RIF	uc001ual.2	Q969K3		ENST00000392464.2:c.325delG	12.37:g.121855406delG	ENSP00000376257:p.Ala109fs	Somatic		WXS	Illumina GAIIx	Phase_IV		Frame_Shift_Del	DEL	superfamily_Znf_FYVE_PHD,smart_Znf_RING,pfscan_Znf_RING	p.A110fs	ENST00000392464.2	37	c.328		12																																																																																			RNF34	-	superfamily_Znf_FYVE_PHD	ENSG00000170633		0.423	RNF34-005	PUTATIVE	basic|exp_conf	protein_coding	RNF34	HGNC	protein_coding	OTTHUMT00000413892.1	101	0.00	0	G	NM_194271		121855406	121855406	+1	no_errors	ENST00000392465	ensembl	human	known	69_37n	frame_shift_del	120	31.82	56	DEL	0.997	-
RSPH6A	81492	genome.wustl.edu	37	19	46307978	46307978	+	Silent	SNP	G	G	A	rs386809786		TCGA-A8-A0A2-01A-11W-A050-09	TCGA-A8-A0A2-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b681dba3-a608-47c2-9ae8-5d761d1e800e	74e986b0-8284-4f30-8bbd-6132f40ed403	g.chr19:46307978G>A	ENST00000221538.3	-	3	1327	c.1185C>T	c.(1183-1185)gaC>gaT	p.D395D	RSPH6A_ENST00000600188.1_Silent_p.D131D|RSPH6A_ENST00000597055.1_Silent_p.D395D	NM_030785.3	NP_110412.1	Q9H0K4	RSH6A_HUMAN	radial spoke head 6 homolog A (Chlamydomonas)	395	Glu-rich.					intracellular (GO:0005622)				central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(6)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(1)|urinary_tract(2)	32						ccttctcctcgtcctcctcgc	0.657																																						dbGAP											0													83.0	70.0	74.0					19																	46307978		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AL136761	CCDS12675.1	19q13.3	2010-02-17	2009-11-18	2009-11-18	ENSG00000104941	ENSG00000104941			14241	protein-coding gene	gene with protein product		607548	"""radial spokehead-like 1"""	RSHL1		11237735	Standard	NM_030785		Approved	RSP4, RSP6, RSPH4B	uc002pdm.3	Q9H0K4		ENST00000221538.3:c.1185C>T	19.37:g.46307978G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q53FE2|Q6PEZ9	Silent	SNP	pfam_Radial_spoke	p.D395	ENST00000221538.3	37	c.1185	CCDS12675.1	19																																																																																			RSPH6A	-	pfam_Radial_spoke	ENSG00000104941		0.657	RSPH6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RSPH6A	HGNC	protein_coding	OTTHUMT00000461657.1	92	0.00	0	G			46307978	46307978	-1	no_errors	ENST00000221538	ensembl	human	known	69_37n	silent	76	18.75	18	SNP	0.998	A
RUNX1	861	genome.wustl.edu	37	21	36252994	36252995	+	Frame_Shift_Ins	INS	-	-	CC	rs373498347		TCGA-A8-A0A2-01A-11W-A050-09	TCGA-A8-A0A2-10A-01W-A055-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b681dba3-a608-47c2-9ae8-5d761d1e800e	74e986b0-8284-4f30-8bbd-6132f40ed403	g.chr21:36252994_36252995insCC	ENST00000344691.4	-	2	1863_1864	c.286_287insGG	c.(286-288)gatfs	p.D96fs	RUNX1_ENST00000325074.5_Frame_Shift_Ins_p.D111fs|RUNX1_ENST00000486278.2_Frame_Shift_Ins_p.D99fs|RUNX1_ENST00000358356.5_Frame_Shift_Ins_p.D96fs|RUNX1_ENST00000300305.3_Frame_Shift_Ins_p.D123fs|RUNX1_ENST00000437180.1_Frame_Shift_Ins_p.D123fs|RUNX1_ENST00000399240.1_Frame_Shift_Ins_p.D96fs	NM_001001890.2	NP_001001890.1	Q01196	RUNX1_HUMAN	runt-related transcription factor 1	96	Runt. {ECO:0000255|PROSITE- ProRule:PRU00399}.				behavioral response to pain (GO:0048266)|cellular response to transforming growth factor beta stimulus (GO:0071560)|central nervous system development (GO:0007417)|definitive hemopoiesis (GO:0060216)|embryonic hemopoiesis (GO:0035162)|hair follicle morphogenesis (GO:0031069)|hematopoietic stem cell proliferation (GO:0071425)|hemopoiesis (GO:0030097)|in utero embryonic development (GO:0001701)|liver development (GO:0001889)|myeloid cell differentiation (GO:0030099)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of granulocyte differentiation (GO:0030853)|peripheral nervous system neuron development (GO:0048935)|positive regulation of angiogenesis (GO:0045766)|positive regulation of granulocyte differentiation (GO:0030854)|positive regulation of progesterone secretion (GO:2000872)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of hair follicle cell proliferation (GO:0071336)|regulation of signal transduction (GO:0009966)|skeletal system development (GO:0001501)|transcription, DNA-templated (GO:0006351)	basement membrane (GO:0005604)|nucleus (GO:0005634)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|DNA binding (GO:0003677)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|regulatory region DNA binding (GO:0000975)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			breast(5)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(428)|large_intestine(3)|lung(6)|oesophagus(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	452						ATCTGGAACATCCCCTAGGGCC	0.46			T	"""RPL22, MDS1, EVI1, CBFA2T3, CBFA2T1, ETV6, LAF4"""	"""AML, preB- ALL, T-ALL"""																																	dbGAP		Dom	yes		21	21q22.3	861	runt-related transcription factor 1  (AML1)		L	0			GRCh37	CM086911	RUNX1	M																																				-	-	-	SO:0001589	frameshift_variant	0			X79549	CCDS13639.1, CCDS42922.1, CCDS46646.1	21q22.3	2014-09-17	2008-07-29		ENSG00000159216	ENSG00000159216			10471	protein-coding gene	gene with protein product	"""aml1 oncogene"""	151385	"""acute myeloid leukemia 1"""	AML1, CBFA2		1427868, 7835892	Standard	NM_001001890		Approved	PEBP2A2, AMLCR1	uc010gmv.3	Q01196	OTTHUMG00000086299	ENST00000344691.4:c.285_286dupGG	21.37:g.36252997_36252998dupCC	ENSP00000340690:p.Asp96fs	Somatic		WXS	Illumina GAIIx	Phase_IV	A8MV94|B2RMS4|D3DSG1|O60472|O60473|O76047|O76089|Q13081|Q13755|Q13756|Q13757|Q13758|Q13759|Q15341|Q15343|Q16122|Q16284|Q16285|Q16286|Q16346|Q16347|Q92479	Frame_Shift_Ins	INS	pfam_AML1/Runt_N,pfam_RunxI,superfamily_p53-like_TF_DNA-bd,pirsf_TF_Runt-rel_RUNX,pfscan_AML1/Runt_N,prints_AML1_Runt	p.D123fs	ENST00000344691.4	37	c.368_367	CCDS42922.1	21																																																																																			RUNX1	-	pfam_AML1/Runt_N,superfamily_p53-like_TF_DNA-bd,pirsf_TF_Runt-rel_RUNX,pfscan_AML1/Runt_N,prints_AML1_Runt	ENSG00000159216		0.460	RUNX1-001	KNOWN	basic|CCDS	protein_coding	RUNX1	HGNC	protein_coding	OTTHUMT00000194230.1	128	0.00	0	-			36252994	36252995	-1	no_errors	ENST00000300305	ensembl	human	known	69_37n	frame_shift_ins	62	34.04	32	INS	0.999:1.000	CC
SHANK1	50944	genome.wustl.edu	37	19	51189556	51189556	+	Missense_Mutation	SNP	G	G	A			TCGA-A8-A0A2-01A-11W-A050-09	TCGA-A8-A0A2-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b681dba3-a608-47c2-9ae8-5d761d1e800e	74e986b0-8284-4f30-8bbd-6132f40ed403	g.chr19:51189556G>A	ENST00000293441.1	-	20	2533	c.2515C>T	c.(2515-2517)Cct>Tct	p.P839S	SHANK1_ENST00000391813.1_Missense_Mutation_p.P226S|SHANK1_ENST00000391814.1_Missense_Mutation_p.P847S|SHANK1_ENST00000359082.3_Missense_Mutation_p.P830S	NM_016148.2	NP_057232.2	Q9Y566	SHAN1_HUMAN	SH3 and multiple ankyrin repeat domains 1	839					adult behavior (GO:0030534)|associative learning (GO:0008306)|cytoskeletal anchoring at plasma membrane (GO:0007016)|dendritic spine morphogenesis (GO:0060997)|determination of affect (GO:0050894)|habituation (GO:0046959)|long-term memory (GO:0007616)|negative regulation of actin filament bundle assembly (GO:0032232)|neuromuscular process controlling balance (GO:0050885)|olfactory behavior (GO:0042048)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|protein complex assembly (GO:0006461)|protein localization to synapse (GO:0035418)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|righting reflex (GO:0060013)|social behavior (GO:0035176)|synapse maturation (GO:0060074)|vocalization behavior (GO:0071625)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|excitatory synapse (GO:0060076)|intracellular (GO:0005622)|membrane (GO:0016020)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	ankyrin repeat binding (GO:0071532)|GKAP/Homer scaffold activity (GO:0030160)|identical protein binding (GO:0042802)|ionotropic glutamate receptor binding (GO:0035255)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)|scaffold protein binding (GO:0097110)|SH3 domain binding (GO:0017124)|somatostatin receptor binding (GO:0031877)			breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	64		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)		CCGGGACCAGGGCTTTCGCTT	0.577																																						dbGAP											0													116.0	98.0	104.0					19																	51189556		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF163302	CCDS12799.1	19q13.3	2013-01-10			ENSG00000161681	ENSG00000161681		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	15474	protein-coding gene	gene with protein product	"""somatostatin receptor-interacting protein"""	604999				10551867	Standard	NM_016148		Approved	SSTRIP, SPANK-1, synamon	uc002psx.1	Q9Y566	OTTHUMG00000137380	ENST00000293441.1:c.2515C>T	19.37:g.51189556G>A	ENSP00000293441:p.Pro839Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	A8MXP5|B7WNY6|Q9NYW9	Missense_Mutation	SNP	pfam_Ankyrin_rpt,pfam_SAM_type1,pfam_SH3_2,pfam_SAM_2,pfam_PDZ,pfam_SH3_domain,superfamily_Ankyrin_rpt-contain_dom,superfamily_PDZ,superfamily_SH3_domain,superfamily_SAM/pointed,smart_Ankyrin_rpt,smart_SH3_domain,smart_PDZ,smart_SAM,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_PDZ,pfscan_SAM,pfscan_SH3_domain	p.P847S	ENST00000293441.1	37	c.2539	CCDS12799.1	19	.	.	.	.	.	.	.	.	.	.	G	12.05	1.822581	0.32237	.	.	ENSG00000161681	ENST00000293441;ENST00000391813;ENST00000359082;ENST00000391814	T;T;T;T	0.39592	1.07;1.07;1.07;1.07	3.91	3.91	0.45181	.	2.479830	0.03384	U	0.200834	T	0.35770	0.0943	L	0.31065	0.9	0.39921	D	0.974152	B;P	0.46142	0.296;0.873	B;B	0.43225	0.066;0.412	T	0.41893	-0.9483	10	0.23891	T	0.37	-3.1406	7.5991	0.28065	0.1162:0.0:0.8838:0.0	.	839;226	Q9Y566;Q9Y566-2	SHAN1_HUMAN;.	S	839;226;830;847	ENSP00000293441:P839S;ENSP00000375689:P226S;ENSP00000351984:P830S;ENSP00000375690:P847S	ENSP00000293441:P839S	P	-	1	0	SHANK1	55881368	0.993000	0.37304	0.977000	0.42913	0.945000	0.59286	2.582000	0.46085	2.211000	0.71520	0.478000	0.44815	CCT	SHANK1	-	NULL	ENSG00000161681		0.577	SHANK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SHANK1	HGNC	protein_coding	OTTHUMT00000268071.1	187	0.00	0	G	NM_016148		51189556	51189556	-1	no_errors	ENST00000391814	ensembl	human	known	69_37n	missense	156	11.73	21	SNP	0.994	A
SLC39A13	91252	genome.wustl.edu	37	11	47431811	47431812	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A8-A0A2-01A-11W-A050-09	TCGA-A8-A0A2-10A-01W-A055-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b681dba3-a608-47c2-9ae8-5d761d1e800e	74e986b0-8284-4f30-8bbd-6132f40ed403	g.chr11:47431811_47431812insG	ENST00000362021.4	+	2	208_209	c.166_167insG	c.(166-168)tggfs	p.W56fs	RP11-750H9.5_ENST00000532943.1_RNA|SLC39A13_ENST00000531974.1_Frame_Shift_Ins_p.W56fs|RP11-750H9.5_ENST00000532340.1_RNA|SLC39A13_ENST00000524928.1_Frame_Shift_Ins_p.W56fs|SLC39A13_ENST00000354884.4_Frame_Shift_Ins_p.W56fs|SLC39A13_ENST00000533076.1_Frame_Shift_Ins_p.W56fs	NM_001128225.2	NP_001121697	Q96H72	S39AD_HUMAN	solute carrier family 39 (zinc transporter), member 13	56					cellular zinc ion homeostasis (GO:0006882)|connective tissue development (GO:0061448)|zinc ion transmembrane transport (GO:0071577)	Golgi apparatus (GO:0005794)|integral component of Golgi membrane (GO:0030173)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)	protein homodimerization activity (GO:0042803)|zinc ion transmembrane transporter activity (GO:0005385)			breast(1)|kidney(1)|lung(1)|prostate(1)	4				Lung(87;0.0936)		AAGCGAGTCCTGGGGGGCTCTG	0.663																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0				CCDS7934.1, CCDS44592.1	11p11.2	2013-05-22			ENSG00000165915	ENSG00000165915		"""Solute carriers"""	20859	protein-coding gene	gene with protein product		608735	"""solute carrier family 39 (metal ion transporter), member 13"""			12659941	Standard	NM_001128225		Approved	FLJ25785	uc009ylq.3	Q96H72	OTTHUMG00000166890	ENST00000362021.4:c.172dupG	11.37:g.47431817_47431817dupG	ENSP00000354689:p.Trp56fs	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DQR6|D3DQR7|E9PLY1|E9PQV3|Q659D9|Q8N7C9|Q8WV10	Frame_Shift_Ins	INS	pfam_ZIP	p.A58fs	ENST00000362021.4	37	c.166_167	CCDS44592.1	11																																																																																			SLC39A13	-	NULL	ENSG00000165915		0.663	SLC39A13-012	KNOWN	basic|CCDS	protein_coding	SLC39A13	HGNC	protein_coding	OTTHUMT00000395652.1	84	0.00	0	-	NM_152264		47431811	47431812	+1	no_errors	ENST00000362021	ensembl	human	known	69_37n	frame_shift_ins	27	10.00	3	INS	1.000:1.000	G
SPOCK1	6695	genome.wustl.edu	37	5	136314405	136314405	+	Missense_Mutation	SNP	C	C	T	rs569345414		TCGA-A8-A0A2-01A-11W-A050-09	TCGA-A8-A0A2-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b681dba3-a608-47c2-9ae8-5d761d1e800e	74e986b0-8284-4f30-8bbd-6132f40ed403	g.chr5:136314405C>T	ENST00000394945.1	-	11	1427	c.1258G>A	c.(1258-1260)Gtg>Atg	p.V420M	SPOCK1_ENST00000282223.7_Missense_Mutation_p.V420M|SPOCK1_ENST00000509978.1_5'Flank	NM_004598.3	NP_004589.1	Q08629	TICN1_HUMAN	sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 1	420					cell adhesion (GO:0007155)|central nervous system neuron differentiation (GO:0021953)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of neuron projection development (GO:0010977)|nervous system development (GO:0007399)|neurogenesis (GO:0022008)|neuron migration (GO:0001764)|regulation of cell growth (GO:0001558)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|neuromuscular junction (GO:0031594)|node of Ranvier (GO:0033268)|postsynaptic density (GO:0014069)|proteinaceous extracellular matrix (GO:0005578)|sarcoplasm (GO:0016528)	calcium ion binding (GO:0005509)|cysteine-type endopeptidase inhibitor activity (GO:0004869)|metalloendopeptidase inhibitor activity (GO:0008191)|serine-type endopeptidase inhibitor activity (GO:0004867)	p.V420M(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|liver(2)|lung(4)|ovary(1)|pancreas(1)|stomach(1)	18			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			TCCTCTGTCACGGCTCGGGTG	0.522													C|||	1	0.000199681	0.0008	0.0	5008	,	,		18085	0.0		0.0	False		,,,				2504	0.0					dbGAP											1	Substitution - Missense(1)	pancreas(1)											254.0	203.0	220.0					5																	136314405		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF231124	CCDS4191.1	5q31.2	2008-02-05	2005-11-04	2005-11-04	ENSG00000152377	ENSG00000152377			11251	protein-coding gene	gene with protein product		602264	"""sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican)"""	TIC1, SPOCK		9545645	Standard	NM_004598		Approved	testican-1	uc003lbp.3	Q08629	OTTHUMG00000129157	ENST00000394945.1:c.1258G>A	5.37:g.136314405C>T	ENSP00000378401:p.Val420Met	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KSW3|Q59EW0|Q8N630|Q9UCL8	Missense_Mutation	SNP	pfam_SPARC/Testican_Ca-bd-dom,pfam_Thyroglobulin_1,pfam_Kazal-type_dom,pfam_Prot_inh_Kazal,superfamily_Thyroglobulin_1,smart_Prot_inh_Kazal,smart_Thyroglobulin_1,pfscan_Thyroglobulin_1	p.V420M	ENST00000394945.1	37	c.1258	CCDS4191.1	5	.	.	.	.	.	.	.	.	.	.	C	13.13	2.144594	0.37825	.	.	ENSG00000152377	ENST00000394945;ENST00000282223	T;T	0.44482	0.92;0.92	5.16	3.26	0.37387	.	0.312183	0.30584	N	0.009319	T	0.18383	0.0441	N	0.14661	0.345	0.09310	N	0.999998	P	0.42973	0.796	B	0.29353	0.101	T	0.22277	-1.0221	10	0.66056	D	0.02	.	7.252	0.26154	0.0:0.699:0.1474:0.1537	.	420	Q08629	TICN1_HUMAN	M	420	ENSP00000378401:V420M;ENSP00000282223:V420M	ENSP00000282223:V420M	V	-	1	0	SPOCK1	136342304	0.883000	0.30277	0.961000	0.40146	0.944000	0.59088	1.661000	0.37408	2.395000	0.81488	0.557000	0.71058	GTG	SPOCK1	-	NULL	ENSG00000152377		0.522	SPOCK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPOCK1	HGNC	protein_coding	OTTHUMT00000251222.1	353	0.00	0	C	NM_004598		136314405	136314405	-1	no_errors	ENST00000282223	ensembl	human	known	69_37n	missense	435	10.49	51	SNP	0.273	T
SPTBN4	57731	genome.wustl.edu	37	19	40996086	40996086	+	Silent	SNP	G	G	A	rs147052708		TCGA-A8-A0A2-01A-11W-A050-09	TCGA-A8-A0A2-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b681dba3-a608-47c2-9ae8-5d761d1e800e	74e986b0-8284-4f30-8bbd-6132f40ed403	g.chr19:40996086G>A	ENST00000352632.3	+	4	512	c.426G>A	c.(424-426)tcG>tcA	p.S142S	SPTBN4_ENST00000598249.1_Silent_p.S142S|SPTBN4_ENST00000595535.1_Silent_p.S142S|SPTBN4_ENST00000338932.3_Silent_p.S142S|SPTBN4_ENST00000344104.3_Silent_p.S142S			Q9H254	SPTN4_HUMAN	spectrin, beta, non-erythrocytic 4	142	Actin-binding.|CH 1. {ECO:0000255|PROSITE- ProRule:PRU00044}.				actin filament capping (GO:0051693)|adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cardiac conduction (GO:0061337)|central nervous system projection neuron axonogenesis (GO:0021952)|clustering of voltage-gated sodium channels (GO:0045162)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization to plasma membrane (GO:0090002)|fertilization (GO:0009566)|negative regulation of heart rate (GO:0010459)|positive regulation of multicellular organism growth (GO:0040018)|regulation of peptidyl-serine phosphorylation (GO:0033135)|regulation of sodium ion transport (GO:0002028)|sensory perception of sound (GO:0007605)|transmission of nerve impulse (GO:0019226)|vesicle-mediated transport (GO:0016192)	adherens junction (GO:0005912)|axon hillock (GO:0043203)|axon initial segment (GO:0043194)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|nuclear matrix (GO:0016363)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|PML body (GO:0016605)|spectrin (GO:0008091)	actin binding (GO:0003779)|ankyrin binding (GO:0030506)|phosphatase binding (GO:0019902)|phospholipid binding (GO:0005543)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			breast(4)|central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	73			Lung(22;0.000114)|LUSC - Lung squamous cell carcinoma(20;0.000384)			ACGTGGGTTCGCATGACATCG	0.652																																						dbGAP											0													115.0	92.0	100.0					19																	40996086		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF082075	CCDS12559.1, CCDS42569.1	19q13.13	2013-01-10				ENSG00000160460		"""Pleckstrin homology (PH) domain containing"""	14896	protein-coding gene	gene with protein product		606214				11086001	Standard	NM_020971		Approved	SPTBN3, KIAA1642	uc002onz.3	Q9H254		ENST00000352632.3:c.426G>A	19.37:g.40996086G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	E9PGQ5|Q9H1K7|Q9H1K8|Q9H1K9|Q9H253|Q9H3G8|Q9HCD0	Silent	SNP	pirsf_Spectrin_bsu,pfam_Spectrin_repeat,pfam_CH-domain,pfam_Pleckstrin_homology,pfam_CAMSAP_CH,superfamily_CH-domain,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_Pleckstrin_homology,prints_PH_dom-spectrin-type,pfscan_CH-domain,pfscan_Pleckstrin_homology	p.S142	ENST00000352632.3	37	c.426	CCDS12559.1	19																																																																																			SPTBN4	-	pirsf_Spectrin_bsu,pfam_CH-domain,superfamily_CH-domain,smart_CH-domain,pfscan_CH-domain	ENSG00000160460		0.652	SPTBN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SPTBN4	HGNC	protein_coding	OTTHUMT00000462559.2	269	0.00	0	G			40996086	40996086	+1	no_errors	ENST00000352632	ensembl	human	known	69_37n	silent	258	11.64	34	SNP	0.067	A
SUSD5	26032	genome.wustl.edu	37	3	33194254	33194254	+	Missense_Mutation	SNP	T	T	A			TCGA-A8-A0A2-01A-11W-A050-09	TCGA-A8-A0A2-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b681dba3-a608-47c2-9ae8-5d761d1e800e	74e986b0-8284-4f30-8bbd-6132f40ed403	g.chr3:33194254T>A	ENST00000309558.3	-	5	2287	c.1870A>T	c.(1870-1872)Atc>Ttc	p.I624F		NM_015551.1	NP_056366.1	O60279	SUSD5_HUMAN	sushi domain containing 5	624					cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)	hyaluronic acid binding (GO:0005540)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	24						TCCATCTCGATCTGCTGGTGG	0.537																																						dbGAP											0													49.0	54.0	52.0					3																	33194254		2153	4260	6413	-	-	-	SO:0001583	missense	0			AB011099	CCDS46787.1	3p23	2014-02-12	2006-01-13		ENSG00000173705	ENSG00000173705			29061	protein-coding gene	gene with protein product							Standard	NM_015551		Approved	KIAA0527	uc003cfo.1	O60279	OTTHUMG00000155829	ENST00000309558.3:c.1870A>T	3.37:g.33194254T>A	ENSP00000308727:p.Ile624Phe	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Link,pfam_Sushi_SCR_CCP,superfamily_C-type_lectin_fold,superfamily_Complement_control_module,smart_Link,pfscan_Link,pfscan_Sushi_SCR_CCP	p.I624F	ENST00000309558.3	37	c.1870	CCDS46787.1	3	.	.	.	.	.	.	.	.	.	.	T	21.5	4.152676	0.78001	.	.	ENSG00000173705	ENST00000309558	T	0.17054	2.3	5.92	4.75	0.60458	.	0.118061	0.64402	N	0.000020	T	0.22003	0.0530	M	0.69823	2.125	0.53005	D	0.999968	P	0.47106	0.89	B	0.41332	0.354	T	0.02411	-1.1163	10	0.87932	D	0	-16.481	11.2732	0.49150	0.136:0.0:0.0:0.864	.	624	O60279	SUSD5_HUMAN	F	624	ENSP00000308727:I624F	ENSP00000308727:I624F	I	-	1	0	SUSD5	33169258	1.000000	0.71417	0.991000	0.47740	0.995000	0.86356	5.456000	0.66665	1.045000	0.40225	0.454000	0.30748	ATC	SUSD5	-	NULL	ENSG00000173705		0.537	SUSD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SUSD5	HGNC	protein_coding	OTTHUMT00000341902.1	186	0.00	0	T	XM_171054		33194254	33194254	-1	no_errors	ENST00000309558	ensembl	human	known	69_37n	missense	98	36.36	56	SNP	1.000	A
TTC39B	158219	genome.wustl.edu	37	9	15177715	15177715	+	Silent	SNP	A	A	G			TCGA-A8-A0A2-01A-11W-A050-09	TCGA-A8-A0A2-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b681dba3-a608-47c2-9ae8-5d761d1e800e	74e986b0-8284-4f30-8bbd-6132f40ed403	g.chr9:15177715A>G	ENST00000512701.2	-	18	1857	c.1821T>C	c.(1819-1821)tgT>tgC	p.C607C	TTC39B_ENST00000507285.1_Silent_p.C442C|TTC39B_ENST00000355694.2_Silent_p.C541C|TTC39B_ENST00000507993.1_Silent_p.C442C|TTC39B_ENST00000297615.5_Silent_p.C538C|TTC39B_ENST00000380850.4_Silent_p.C594C			Q5VTQ0	TT39B_HUMAN	tetratricopeptide repeat domain 39B	607										NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)	21						CATGATTGTAACATAGTTCAG	0.408																																						dbGAP											0													150.0	133.0	139.0					9																	15177715		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK091187	CCDS6477.1, CCDS6477.2, CCDS55294.1, CCDS55295.1, CCDS55296.1	9p22.2	2013-01-11	2008-06-23	2008-06-23	ENSG00000155158	ENSG00000155158		"""Tetratricopeptide (TTC) repeat domain containing"""	23704	protein-coding gene	gene with protein product		613574	"""chromosome 9 open reading frame 52"""	C9orf52			Standard	NM_001168339		Approved	FLJ33868	uc003zlr.2	Q5VTQ0	OTTHUMG00000019581	ENST00000512701.2:c.1821T>C	9.37:g.15177715A>G		Somatic		WXS	Illumina GAIIx	Phase_IV	A5PLN1|B4DQ10|B4DQX4|B4DW93|Q8IVR7|Q8IXZ6|Q8N267	Silent	SNP	pfam_OMP_IML2_mit/TPR_39,smart_TPR_repeat	p.C607	ENST00000512701.2	37	c.1821	CCDS6477.2	9																																																																																			TTC39B	-	smart_TPR_repeat	ENSG00000155158		0.408	TTC39B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	TTC39B	HGNC	protein_coding	OTTHUMT00000051758.3	162	0.00	0	A	NM_152574		15177715	15177715	-1	no_errors	ENST00000512701	ensembl	human	known	69_37n	silent	114	18.57	26	SNP	1.000	G
TNFSF15	9966	genome.wustl.edu	37	9	117553070	117553070	+	Silent	SNP	G	G	A			TCGA-A8-A0A2-01A-11W-A050-09	TCGA-A8-A0A2-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b681dba3-a608-47c2-9ae8-5d761d1e800e	74e986b0-8284-4f30-8bbd-6132f40ed403	g.chr9:117553070G>A	ENST00000374045.4	-	4	531	c.418C>T	c.(418-420)Ctg>Ttg	p.L140L	TNFSF15_ENST00000374044.1_Silent_p.L63L|AL390240.1_ENST00000408807.1_RNA	NM_001204344.1|NM_005118.3	NP_001191273.1|NP_005109.2	O95150	TNF15_HUMAN	tumor necrosis factor (ligand) superfamily, member 15	140					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of NF-kappaB-inducing kinase activity (GO:0007250)|cytokine metabolic process (GO:0042107)|immune response (GO:0006955)|positive regulation of cytokine secretion (GO:0050715)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(4)|skin(1)	11						TCTGGGATCAGCAGGAATTTG	0.488																																						dbGAP											0													115.0	112.0	113.0					9																	117553070		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF039390	CCDS6809.1	9q32	2008-07-21			ENSG00000181634	ENSG00000181634		"""Tumor necrosis factor (ligand) superfamily"""	11931	protein-coding gene	gene with protein product	"""vascular endothelial cell growth inhibitor"", ""TNF superfamily ligand TL1A"", ""TNF ligand-related molecule 1"", ""vascular endothelial growth inhibitor-192A"""	604052				9434163	Standard	NM_005118		Approved	TL1, VEGI, TL1A, VEGI192A, MGC129934, MGC129935	uc004bjh.3	O95150	OTTHUMG00000021011	ENST00000374045.4:c.418C>T	9.37:g.117553070G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q3SX69|Q5VJK8|Q5VWH1|Q8NFE9	Silent	SNP	pfam_TNF,superfamily_Tumour_necrosis_fac-like,smart_TNF,pfscan_TNF,prints_TNF_a/b/c	p.L140	ENST00000374045.4	37	c.418	CCDS6809.1	9																																																																																			TNFSF15	-	pfam_TNF,superfamily_Tumour_necrosis_fac-like,smart_TNF,pfscan_TNF	ENSG00000181634		0.488	TNFSF15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TNFSF15	HGNC	protein_coding	OTTHUMT00000055424.2	305	0.00	0	G	NM_005118		117553070	117553070	-1	no_errors	ENST00000374045	ensembl	human	known	69_37n	silent	146	14.12	24	SNP	1.000	A
VWA3A	146177	genome.wustl.edu	37	16	22159556	22159556	+	Silent	SNP	C	C	T			TCGA-A8-A0A2-01A-11W-A050-09	TCGA-A8-A0A2-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b681dba3-a608-47c2-9ae8-5d761d1e800e	74e986b0-8284-4f30-8bbd-6132f40ed403	g.chr16:22159556C>T	ENST00000389398.5	+	28	3009	c.2913C>T	c.(2911-2913)ggC>ggT	p.G971G	VWA3A_ENST00000389397.4_Silent_p.G73G|VWA3A_ENST00000563755.1_Silent_p.G73G	NM_173615.3	NP_775886.3	A6NCI4	VWA3A_HUMAN	von Willebrand factor A domain containing 3A	971	VWFA 2. {ECO:0000255|PROSITE- ProRule:PRU00219}.					extracellular region (GO:0005576)				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(1)|skin(1)	7				GBM - Glioblastoma multiforme(48;0.0439)		GGTCCATGGGCCCCTACCTGC	0.577																																						dbGAP											0													57.0	59.0	58.0					16																	22159556		1990	4163	6153	-	-	-	SO:0001819	synonymous_variant	0			AK128606, AK098260	CCDS45441.1	16p12.1	2008-02-05				ENSG00000175267			27088	protein-coding gene	gene with protein product						12477932	Standard	XM_006721021		Approved	FLJ46765, FLJ40941	uc010vbq.2	A6NCI4		ENST00000389398.5:c.2913C>T	16.37:g.22159556C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A4QMU8|A6NNC0|Q6UTX4|Q6ZQZ9|Q8IUY6|Q8N9W1	Silent	SNP	pfam_VWF_A,smart_VWF_A,pfscan_VWF_A	p.G971	ENST00000389398.5	37	c.2913	CCDS45441.1	16																																																																																			VWA3A	-	pfam_VWF_A,smart_VWF_A,pfscan_VWF_A	ENSG00000175267		0.577	VWA3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VWA3A	HGNC	protein_coding	OTTHUMT00000430052.1	214	0.00	0	C			22159556	22159556	+1	no_errors	ENST00000389398	ensembl	human	known	69_37n	silent	154	17.55	33	SNP	1.000	T
ZC3H15	55854	genome.wustl.edu	37	2	187371487	187371487	+	Silent	SNP	C	C	T			TCGA-A8-A0A2-01A-11W-A050-09	TCGA-A8-A0A2-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b681dba3-a608-47c2-9ae8-5d761d1e800e	74e986b0-8284-4f30-8bbd-6132f40ed403	g.chr2:187371487C>T	ENST00000337859.6	+	9	1241	c.1014C>T	c.(1012-1014)atC>atT	p.I338I		NM_018471.2	NP_060941.2	Q8WU90	ZC3HF_HUMAN	zinc finger CCCH-type containing 15	338					cytokine-mediated signaling pathway (GO:0019221)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|skin(1)	15			OV - Ovarian serous cystadenocarcinoma(117;0.0148)|Epithelial(96;0.0922)|all cancers(119;0.233)			GCCTGTACATCCCAAGAGATG	0.323																																						dbGAP											0													141.0	133.0	136.0					2																	187371487		1851	4098	5949	-	-	-	SO:0001819	synonymous_variant	0				CCDS42791.1	2q32.1	2012-07-05			ENSG00000065548	ENSG00000065548		"""Zinc fingers, CCCH-type domain containing"""	29528	protein-coding gene	gene with protein product	"""likely ortholog of mouse immediate early response, erythropoietin 4"""					10880228	Standard	NM_018471		Approved	LEREPO4	uc002upo.3	Q8WU90	OTTHUMG00000154251	ENST00000337859.6:c.1014C>T	2.37:g.187371487C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	B4DMW2|D3DPG7|Q5QTQ4|Q8WZ06|Q9NUZ3|Q9NZ37|Q9P079	Silent	SNP	pfam_Znf_CCCH,smart_Znf_CCCH	p.I338	ENST00000337859.6	37	c.1014	CCDS42791.1	2																																																																																			ZC3H15	-	NULL	ENSG00000065548		0.323	ZC3H15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZC3H15	HGNC	protein_coding	OTTHUMT00000334547.2	86	0.00	0	C	NM_018471		187371487	187371487	+1	no_errors	ENST00000337859	ensembl	human	known	69_37n	silent	43	41.89	31	SNP	0.993	T
ZFPM2	23414	genome.wustl.edu	37	8	106813892	106813892	+	Missense_Mutation	SNP	C	C	A			TCGA-A8-A0A2-01A-11W-A050-09	TCGA-A8-A0A2-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	b681dba3-a608-47c2-9ae8-5d761d1e800e	74e986b0-8284-4f30-8bbd-6132f40ed403	g.chr8:106813892C>A	ENST00000407775.2	+	8	1832	c.1582C>A	c.(1582-1584)Ctg>Atg	p.L528M	RP11-152P17.2_ENST00000509144.2_RNA|ZFPM2_ENST00000522296.1_3'UTR|RP11-152P17.2_ENST00000520433.1_RNA|RP11-152P17.2_ENST00000520594.1_RNA|ZFPM2_ENST00000517361.1_Missense_Mutation_p.L396M|ZFPM2_ENST00000520492.1_Missense_Mutation_p.L396M|RP11-152P17.2_ENST00000521622.1_RNA|ZFPM2_ENST00000378472.4_Missense_Mutation_p.L259M|RP11-152P17.2_ENST00000518932.1_RNA|RP11-152P17.2_ENST00000524045.2_RNA	NM_012082.3	NP_036214.2	Q8WW38	FOG2_HUMAN	zinc finger protein, FOG family member 2	528					blood coagulation (GO:0007596)|embryonic organ development (GO:0048568)|gonadal mesoderm development (GO:0007506)|in utero embryonic development (GO:0001701)|lung development (GO:0030324)|negative regulation of cell death (GO:0060548)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of female gonad development (GO:2000195)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract septum morphogenesis (GO:0003148)|positive regulation of male gonad development (GO:2000020)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|right ventricular cardiac muscle tissue morphogenesis (GO:0003221)|vasculogenesis (GO:0001570)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|nucleic acid binding transcription factor activity (GO:0001071)|RNA polymerase II transcription coactivator activity (GO:0001105)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(4)|breast(6)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(11)|liver(2)|lung(48)|ovary(4)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	99			OV - Ovarian serous cystadenocarcinoma(57;8.28e-08)			GCATCGGCGACTGAGGCATGG	0.473																																						dbGAP											0													92.0	94.0	93.0					8																	106813892		1940	4128	6068	-	-	-	SO:0001583	missense	0			AF119334	CCDS47908.1	8q23	2013-01-10	2012-11-27		ENSG00000169946	ENSG00000169946		"""Zinc fingers, C2H2-type"", ""Zinc fingers, C2HC-type containing"""	16700	protein-coding gene	gene with protein product		603693	"""zinc finger protein, multitype 2"""			9927675, 10438528	Standard	NM_012082		Approved	FOG2, hFOG-2, ZNF89B, ZC2HC11B	uc003ymd.3	Q8WW38	OTTHUMG00000164818	ENST00000407775.2:c.1582C>A	8.37:g.106813892C>A	ENSP00000384179:p.Leu528Met	Somatic		WXS	Illumina GAIIx	Phase_IV	Q32MA6|Q9NPL7|Q9NPS4|Q9UNI5	Missense_Mutation	SNP	smart_Znf_C2H2-like,pfscan_Znf_C2H2	p.L528M	ENST00000407775.2	37	c.1582	CCDS47908.1	8	.	.	.	.	.	.	.	.	.	.	C	15.71	2.915152	0.52546	.	.	ENSG00000169946	ENST00000407775;ENST00000520492;ENST00000517361;ENST00000378472	T;T;T;T	0.56103	0.48;1.04;1.04;2.28	5.97	5.1	0.69264	.	0.000000	0.85682	D	0.000000	T	0.69133	0.3077	M	0.68317	2.08	0.58432	D	0.999997	D	0.76494	0.999	D	0.85130	0.997	T	0.71745	-0.4500	10	0.62326	D	0.03	.	12.1389	0.53986	0.0:0.8635:0.0:0.1365	.	528	Q8WW38	FOG2_HUMAN	M	528;396;396;259	ENSP00000384179:L528M;ENSP00000430757:L396M;ENSP00000428720:L396M;ENSP00000367733:L259M	ENSP00000367733:L259M	L	+	1	2	ZFPM2	106883068	0.994000	0.37717	1.000000	0.80357	0.997000	0.91878	2.625000	0.46452	1.544000	0.49359	0.655000	0.94253	CTG	ZFPM2	-	NULL	ENSG00000169946		0.473	ZFPM2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	ZFPM2	HGNC	protein_coding	OTTHUMT00000380614.1	31	0.00	0	C			106813892	106813892	+1	no_errors	ENST00000407775	ensembl	human	known	69_37n	missense	40	14.89	7	SNP	1.000	A
