#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
AP3D1	8943	genome.wustl.edu	37	19	2114127	2114127	+	Frame_Shift_Del	DEL	C	C	-			TCGA-AO-A03U-01B-21D-A10M-09	TCGA-AO-A03U-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	1e0ecd57-5c7d-4495-874d-9e286c999c22	24b629ef-6829-4494-8843-9877a56303cf	g.chr19:2114127delC	ENST00000345016.5	-	22	2829	c.2598delG	c.(2596-2598)aagfs	p.K868fs	AP3D1_ENST00000356926.4_Frame_Shift_Del_p.K776fs|AP3D1_ENST00000350812.6_Frame_Shift_Del_p.K699fs|AP3D1_ENST00000355272.6_Frame_Shift_Del_p.K867fs	NM_003938.6	NP_003929.4	O14617	AP3D1_HUMAN	adaptor-related protein complex 3, delta 1 subunit	868	Lys-rich.				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)|endosome to melanosome transport (GO:0035646)|eye pigment biosynthetic process (GO:0006726)|intracellular protein transport (GO:0006886)|melanosome organization (GO:0032438)|positive regulation of NK T cell differentiation (GO:0051138)|protein localization to membrane (GO:0072657)|protein localization to organelle (GO:0033365)|regulation of sequestering of zinc ion (GO:0061088)|synaptic vesicle membrane organization (GO:0048499)	endosome membrane (GO:0010008)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|membrane coat (GO:0030117)|terminal bouton (GO:0043195)	protein transporter activity (GO:0008565)|transporter activity (GO:0005215)			breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(23)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GCCTTACcttcttctccttct	0.512																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			U91930	CCDS42459.1, CCDS58638.1	19p13.3	2014-09-04			ENSG00000065000	ENSG00000065000			568	protein-coding gene	gene with protein product		607246				9151686, 9303295	Standard	NM_003938		Approved	ADTD	uc002lva.4	O14617	OTTHUMG00000180354	ENST00000345016.5:c.2598delG	19.37:g.2114127delC	ENSP00000344055:p.Lys868fs	Somatic		WXS	Illumina GAIIx	Phase_IV	O00202|O75262|Q59HF5|Q96G11|Q9H3C6	Frame_Shift_Del	DEL	pfam_BLV_receptor,pfam_Clathrin/coatomer_adapt-like_N,superfamily_ARM-type_fold,pirsf_AP3_complex_dsu	p.K867fs	ENST00000345016.5	37	c.2598	CCDS42459.1	19																																																																																			AP3D1	-	pfam_BLV_receptor,pirsf_AP3_complex_dsu	ENSG00000065000		0.512	AP3D1-002	KNOWN	basic|CCDS	protein_coding	AP3D1	HGNC	protein_coding	OTTHUMT00000450912.1	163	0.00	0	C			2114127	2114127	-1	no_errors	ENST00000355272	ensembl	human	known	69_37n	frame_shift_del	124	10.71	15	DEL	0.158	-
C2orf16	84226	genome.wustl.edu	37	2	27803312	27803312	+	Missense_Mutation	SNP	G	G	C			TCGA-AO-A03U-01B-21D-A10M-09	TCGA-AO-A03U-10A-01D-A10M-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	1e0ecd57-5c7d-4495-874d-9e286c999c22	24b629ef-6829-4494-8843-9877a56303cf	g.chr2:27803312G>C	ENST00000408964.2	+	1	3924	c.3873G>C	c.(3871-3873)aaG>aaC	p.K1291N	AC074091.1_ENST00000408604.1_RNA|RP11-158I13.2_ENST00000505973.1_RNA|ZNF512_ENST00000379717.1_5'Flank|ZNF512_ENST00000355467.4_5'Flank|ZNF512_ENST00000413371.2_5'Flank|ZNF512_ENST00000416005.2_5'Flank|ZNF512_ENST00000556601.1_5'Flank	NM_032266.3	NP_115642.3	Q68DN1	CB016_HUMAN	chromosome 2 open reading frame 16	1291						extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(33)|urinary_tract(1)	47	Acute lymphoblastic leukemia(172;0.155)					ATCCAATGAAGAGAATCACCA	0.398																																						dbGAP											0													85.0	82.0	83.0					2																	27803312		1826	4085	5911	-	-	-	SO:0001583	missense	0			AL136898	CCDS42666.1	2p23.3	2013-09-20			ENSG00000221843	ENSG00000221843			25275	protein-coding gene	gene with protein product	"""P-S-E-R-S-H-H-S repeats containing"""						Standard	NM_032266		Approved	DKFZp434G118	uc002rkz.4	Q68DN1	OTTHUMG00000159099	ENST00000408964.2:c.3873G>C	2.37:g.27803312G>C	ENSP00000386190:p.Lys1291Asn	Somatic		WXS	Illumina GAIIx	Phase_IV	B9EIQ4|Q53S01|Q8ND64|Q9H088	Missense_Mutation	SNP	NULL	p.K1291N	ENST00000408964.2	37	c.3873	CCDS42666.1	2	.	.	.	.	.	.	.	.	.	.	G	10.71	1.425626	0.25639	.	.	ENSG00000221843	ENST00000408964	T	0.52983	0.64	5.31	2.22	0.28083	.	.	.	.	.	T	0.51839	0.1698	L	0.32530	0.975	0.09310	N	1	D	0.71674	0.998	D	0.69654	0.965	T	0.37056	-0.9722	9	0.87932	D	0	.	6.1972	0.20555	0.3745:0.0:0.6255:0.0	.	1291	Q68DN1	CB016_HUMAN	N	1291	ENSP00000386190:K1291N	ENSP00000386190:K1291N	K	+	3	2	C2orf16	27656816	0.995000	0.38212	0.015000	0.15790	0.302000	0.27658	0.432000	0.21461	0.102000	0.17638	0.563000	0.77884	AAG	C2orf16	-	NULL	ENSG00000221843		0.398	C2orf16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C2orf16	HGNC	protein_coding	OTTHUMT00000353292.1	108	0.00	0	G	NM_032266		27803312	27803312	+1	no_errors	ENST00000408964	ensembl	human	known	69_37n	missense	57	21.92	16	SNP	0.063	C
C5orf60	285679	genome.wustl.edu	37	5	179071958	179071958	+	Missense_Mutation	SNP	C	C	G	rs7731123	byFrequency	TCGA-AO-A03U-01B-21D-A10M-09	TCGA-AO-A03U-10A-01D-A10M-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	1e0ecd57-5c7d-4495-874d-9e286c999c22	24b629ef-6829-4494-8843-9877a56303cf	g.chr5:179071958C>G	ENST00000448248.2	-	1	89	c.64G>C	c.(64-66)Gac>Cac	p.D22H	C5orf60_ENST00000506142.1_5'UTR	NM_001142306.1	NP_001135778.1	A6NFR6	CE060_HUMAN	chromosome 5 open reading frame 60	22						integral component of membrane (GO:0016021)				NS(1)|breast(1)|kidney(5)	7						ATAACACTGTCCAGAGGAAAG	0.522																																						dbGAP											0													66.0	64.0	65.0					5																	179071958		692	1591	2283	-	-	-	SO:0001583	missense	0			BC043435	CCDS47353.1	5q35.3	2010-08-19			ENSG00000204661	ENSG00000204661			27753	protein-coding gene	gene with protein product						12477932	Standard	NM_001142306		Approved		uc003mki.3	A6NFR6	OTTHUMG00000163221	ENST00000448248.2:c.64G>C	5.37:g.179071958C>G	ENSP00000404583:p.Asp22His	Somatic		WXS	Illumina GAIIx	Phase_IV	A1L488|B7ZM52|B7ZM53	Missense_Mutation	SNP	NULL	p.D22H	ENST00000448248.2	37	c.64	CCDS47353.1	5	.	.	.	.	.	.	.	.	.	.	c	3.367	-0.129222	0.06753	.	.	ENSG00000204661	ENST00000448248	T	0.25250	1.81	0.362	-0.723	0.11181	.	.	.	.	.	T	0.15912	0.0383	N	0.08118	0	0.80722	P	0.0	D;D	0.58268	0.982;0.982	P;P	0.50825	0.651;0.651	T	0.23404	-1.0189	7	0.46703	T	0.11	.	.	.	.	rs7731123;rs7731123	22;22	A6NFR6-2;A6NFR6-4	.;.	H	22	ENSP00000404583:D22H	ENSP00000404583:D22H	D	-	1	0	C5orf60	179004564	0.006000	0.16342	0.027000	0.17364	0.069000	0.16628	-0.549000	0.06041	-0.410000	0.07542	0.134000	0.15878	GAC	C5orf60	-	NULL	ENSG00000204661		0.522	C5orf60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C5orf60	HGNC	protein_coding	OTTHUMT00000372148.2	29	0.00	0	C	NM_001142306		179071958	179071958	-1	no_errors	ENST00000448248	ensembl	human	known	69_37n	missense	74	14.94	13	SNP	0.027	G
CCDC74B	91409	genome.wustl.edu	37	2	130897620	130897620	+	Missense_Mutation	SNP	A	A	G	rs2259332	byFrequency	TCGA-AO-A03U-01B-21D-A10M-09	TCGA-AO-A03U-10A-01D-A10M-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	1e0ecd57-5c7d-4495-874d-9e286c999c22	24b629ef-6829-4494-8843-9877a56303cf	g.chr2:130897620A>G	ENST00000310463.6	-	6	1063	c.926T>C	c.(925-927)gTc>gCc	p.V309A	CCDC74B_ENST00000409943.3_Missense_Mutation_p.V243A|CCDC74B_ENST00000392984.3_Missense_Mutation_p.V411A|MED15P9_ENST00000427638.1_RNA	NM_207310.2	NP_997193.1	Q96LY2	CC74B_HUMAN	coiled-coil domain containing 74B	309										endometrium(2)|large_intestine(1)|lung(3)	6	Colorectal(110;0.1)					TTCCTCCGGGACTGCCTGGGG	0.667													.|||	1822	0.363818	0.3351	0.4107	5008	,	,		12901	0.3839		0.3032	False		,,,				2504	0.411					dbGAP											0													33.0	37.0	35.0					2																	130897620		2194	4263	6457	-	-	-	SO:0001583	missense	0				CCDS2155.1, CCDS58726.1	2q21.1	2006-11-29		2006-02-16	ENSG00000152076	ENSG00000152076			25267	protein-coding gene	gene with protein product							Standard	NM_001258307		Approved	DKFZp434E2321	uc002tqn.2	Q96LY2	OTTHUMG00000131629	ENST00000310463.6:c.926T>C	2.37:g.130897620A>G	ENSP00000308873:p.Val309Ala	Somatic		WXS	Illumina GAIIx	Phase_IV	Q6NW18	Missense_Mutation	SNP	NULL	p.V411A	ENST00000310463.6	37	c.1232	CCDS2155.1	2	632|632	0.2893772893772894|0.2893772893772894	137|137	0.2784552845528455|0.2784552845528455	111|111	0.30662983425414364|0.30662983425414364	197|197	0.34440559440559443|0.34440559440559443	187|187	0.24670184696569922|0.24670184696569922	.|.	0.001|0.001	-3.455399|-3.455399	0.00012|0.00012	.|.	.|.	ENSG00000152076|ENSG00000152076	ENST00000409488|ENST00000409943;ENST00000310463;ENST00000392984	.|T;T;T	.|0.28895	.|1.59;1.59;1.59	2.15|2.15	0.0767|0.0767	0.14404|0.14404	.|.	.|2.004350	.|0.03696	.|N	.|0.247867	T|T	0.00012|0.00012	0.0000|0.0000	N|N	0.01800|0.01800	-0.715|-0.715	0.80722|0.80722	P|P	0.0|0.0	.|B;B;B	.|0.02656	.|0.0;0.0;0.0	.|B;B;B	.|0.04013	.|0.0;0.001;0.0	T|T	0.39272|0.39272	-0.9622|-0.9622	5|9	0.25106|0.23302	T|T	0.35|0.38	.|.	3.125|3.125	0.06405|0.06405	0.31:0.2268:0.4632:0.0|0.31:0.2268:0.4632:0.0	.|.	.|411;243;309	.|E7ESC5;Q96LY2-2;Q96LY2	.|.;.;CC74B_HUMAN	P|A	207|243;309;411	.|ENSP00000386294:V243A;ENSP00000308873:V309A;ENSP00000376710:V411A	ENSP00000386250:S207P|ENSP00000308873:V309A	S|V	-|-	1|2	0|0	CCDC74B|CCDC74B	130614090|130614090	0.000000|0.000000	0.05858|0.05858	0.011000|0.011000	0.14972|0.14972	0.003000|0.003000	0.03518|0.03518	0.033000|0.033000	0.13754|0.13754	-0.593000|-0.593000	0.05844|0.05844	-1.964000|-1.964000	0.00472|0.00472	TCC|GTC	CCDC74B	-	NULL	ENSG00000152076		0.667	CCDC74B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CCDC74B	HGNC	protein_coding	OTTHUMT00000254522.3	12	0.00	0	A	NM_207310		130897620	130897620	-1	no_errors	ENST00000392984	ensembl	human	known	69_37n	missense	48	30.43	21	SNP	0.003	G
GOLGA6L2	283685	genome.wustl.edu	37	15	23685205	23685206	+	Frame_Shift_Ins	INS	-	-	C	rs112738749		TCGA-AO-A03U-01B-21D-A10M-09	TCGA-AO-A03U-10A-01D-A10M-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	1e0ecd57-5c7d-4495-874d-9e286c999c22	24b629ef-6829-4494-8843-9877a56303cf	g.chr15:23685205_23685206insC	ENST00000567107.1	-	8	2468_2469	c.2416_2417insG	c.(2416-2418)gcafs	p.A806fs	GOLGA6L2_ENST00000345070.5_Intron|GOLGA6L2_ENST00000312015.5_Intron			Q8N9W4	GG6L2_HUMAN	golgin A6 family-like 2	0										breast(1)|endometrium(7)	8						ttctcctcctgctcccgcatct	0.584																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AK093463		15q11.2	2012-10-05	2010-02-12		ENSG00000174450	ENSG00000174450			26695	protein-coding gene	gene with protein product	"""cancer/testis antigen 105"""		"""golgi autoantigen, golgin subfamily a, 6-like 2"""				Standard	XM_002343322		Approved	CT105, FLJ36144	uc021sfy.1	Q8N9W4	OTTHUMG00000176417	ENST00000567107.1:c.2417dupG	15.37:g.23685206_23685206dupC	ENSP00000454407:p.Ala806fs	Somatic		WXS	Illumina GAIIx	Phase_IV	A1L301	Frame_Shift_Ins	INS	NULL	p.A806fs	ENST00000567107.1	37	c.2417_2416		15																																																																																			GOLGA6L2	-	NULL	ENSG00000174450		0.584	GOLGA6L2-002	PUTATIVE	basic|appris_candidate_longest	protein_coding	GOLGA6L2	HGNC	protein_coding	OTTHUMT00000431937.1	27	0.00	0	-	NM_182561		23685205	23685206	-1	no_errors	ENST00000567107	ensembl	human	putative	69_37n	frame_shift_ins	18	21.74	5	INS	0.004:0.005	C
GPR98	84059	genome.wustl.edu	37	5	89990148	89990149	+	Frame_Shift_Del	DEL	TA	TA	-	rs75191159	byFrequency	TCGA-AO-A03U-01B-21D-A10M-09	TCGA-AO-A03U-10A-01D-A10M-09	TA	TA					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	1e0ecd57-5c7d-4495-874d-9e286c999c22	24b629ef-6829-4494-8843-9877a56303cf	g.chr5:89990148_89990149delTA	ENST00000405460.2	+	33	7671_7672	c.7575_7576delTA	c.(7573-7578)tctattfs	p.I2526fs		NM_032119.3	NP_115495.3	Q8WXG9	GPR98_HUMAN	G protein-coupled receptor 98	2526	Calx-beta 17. {ECO:0000305|PubMed:11606593}.				detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|G-protein coupled receptor signaling pathway (GO:0007186)|inner ear receptor stereocilium organization (GO:0060122)|maintenance of organ identity (GO:0048496)|nervous system development (GO:0007399)|neurological system process (GO:0050877)|neuropeptide signaling pathway (GO:0007218)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|visual perception (GO:0007601)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|stereocilia ankle link complex (GO:0002142)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)			NS(4)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(3)|kidney(18)|large_intestine(46)|liver(2)|lung(80)|ovary(12)|pancreas(5)|prostate(1)|skin(50)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(6)	269		all_cancers(142;1.05e-09)|all_epithelial(76;1.81e-12)|all_lung(232;5.41e-06)|Lung NSC(167;1.72e-05)|Ovarian(174;0.00948)|Colorectal(57;0.133)|Breast(839;0.192)		OV - Ovarian serous cystadenocarcinoma(54;7.01e-30)|Epithelial(54;6.79e-25)|all cancers(79;1.88e-20)		TCACAGTGTCTATTCTTCCTGA	0.436																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AB014586	CCDS47246.1	5q13	2014-08-08	2006-05-26	2006-05-26	ENSG00000164199	ENSG00000164199		"""-"", ""GPCR / Class B : Orphans"""	17416	protein-coding gene	gene with protein product		602851	"""monogenic, audiogenic seizure susceptibility 1 homolog (mouse)"""	USH2C, MASS1		10976914, 14740321	Standard	NM_032119		Approved	DKFZp761P0710, KIAA0686, FEB4, VLGR1b	uc003kju.3	Q8WXG9	OTTHUMG00000162668	ENST00000405460.2:c.7575_7576delTA	5.37:g.89990148_89990149delTA	ENSP00000384582:p.Ile2526fs	Somatic		WXS	Illumina GAIIx	Phase_IV	O75171|Q8TF58|Q9H0X5|Q9UL61	Frame_Shift_Del	DEL	pfam_Calx_beta,pfam_EPTP,pfam_GPCR_2_secretin-like,pfam_GPS_dom,superfamily_ConA-like_lec_gl,superfamily_Gal_Oxase/kelch_b-propeller,smart_Calx_beta,pfscan_EAR,pfscan_GPS_dom,pfscan_GPCR_2-like	p.I2526fs	ENST00000405460.2	37	c.7575_7576	CCDS47246.1	5																																																																																			GPR98	-	NULL	ENSG00000164199		0.436	GPR98-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GPR98	HGNC	protein_coding	OTTHUMT00000369993.2	179	0.00	0	TA	NM_032119		89990148	89990149	+1	no_errors	ENST00000405460	ensembl	human	known	69_37n	frame_shift_del	153	19.05	36	DEL	0.154:0.184	-
POTEB	100996331	genome.wustl.edu	37	15	22077651	22077651	+	Silent	SNP	A	A	G	rs201029243		TCGA-AO-A03U-01B-21D-A10M-09	TCGA-AO-A03U-10A-01D-A10M-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	1e0ecd57-5c7d-4495-874d-9e286c999c22	24b629ef-6829-4494-8843-9877a56303cf	g.chr15:22077651A>G	ENST00000439682.1	-	3	630	c.579T>C	c.(577-579)gcT>gcC	p.A193A	POTEB_ENST00000553662.2_5'UTR	NM_001277304.1	NP_001264233.1	Q6S5H4	POTEB_HUMAN	POTE ankyrin domain family, member B	230										endometrium(2)|kidney(8)|lung(4)	14						TATTTCCATCAGCGCCATGTT	0.383																																						dbGAP											0													1.0	1.0	1.0					15																	22077651		221	346	567	-	-	-	SO:0001819	synonymous_variant	0			AY465170	CCDS59250.1	15q11.2	2014-01-10	2008-11-26	2008-11-26	ENSG00000233917	ENSG00000233917		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	33734	protein-coding gene	gene with protein product	"""cancer/testis antigen family 104, member 5"""	608912	"""ANKRD26-like family B, member 1"""	A26B1			Standard	NM_001277304		Approved	POTE15, POTE-15, CT104.5	uc031qqz.1	Q6S5H4		ENST00000439682.1:c.579T>C	15.37:g.22077651A>G		Somatic		WXS	Illumina GAIIx	Phase_IV	Q6NXN7|Q6S5H7	Silent	SNP	pfam_Ankyrin_rpt,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt	p.A193	ENST00000439682.1	37	c.579	CCDS59250.1	15																																																																																			POTEB	-	superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,prints_Ankyrin_rpt	ENSG00000233917		0.383	POTEB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POTEB	HGNC	protein_coding	OTTHUMT00000414911.2	11	0.00	0	A	NM_207355		22077651	22077651	-1	no_errors	ENST00000439682	ensembl	human	known	69_37n	silent	4	42.86	3	SNP	0.570	G
RPS27L	51065	genome.wustl.edu	37	15	63448632	63448633	+	In_Frame_Ins	INS	-	-	TAC			TCGA-AO-A03U-01B-21D-A10M-09	TCGA-AO-A03U-10A-01D-A10M-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	1e0ecd57-5c7d-4495-874d-9e286c999c22	24b629ef-6829-4494-8843-9877a56303cf	g.chr15:63448632_63448633insTAC	ENST00000330964.5	-	2	490_491	c.94_95insGTA	c.(94-96)ttt>tGTAtt	p.32_32F>CI	RPS27L_ENST00000411926.1_5'UTR|RPS27L_ENST00000439025.1_In_Frame_Ins_p.32_32F>CI|RPS27L_ENST00000455271.1_5'UTR|RPS27L_ENST00000462430.1_In_Frame_Ins_p.48_48F>CI|RPS27L_ENST00000559763.1_5'Flank	NM_015920.3	NP_057004.1			ribosomal protein S27-like											large_intestine(1)	1						TACATCCATAAAGTAAGAATTT	0.327																																						dbGAP											0																																										-	-	-	SO:0001652	inframe_insertion	0			BC003667	CCDS42048.1	15q21.3	2008-07-18			ENSG00000185088	ENSG00000185088		"""S ribosomal proteins"""	18476	protein-coding gene	gene with protein product		612055				11042152	Standard	NM_015920		Approved		uc002aly.3	Q71UM5	OTTHUMG00000155301	ENST00000330964.5:c.94_95insGTA	15.37:g.63448632_63448633insTAC	ENSP00000331019:p.Phe32delinsCysIle	Somatic		WXS	Illumina GAIIx	Phase_IV		In_Frame_Ins	INS	pfam_Ribosomal_S27e,superfamily_Ribosomal_zn-bd_dom	p.F32in_frame_insCI	ENST00000330964.5	37	c.95_94	CCDS42048.1	15																																																																																			RPS27L	-	pfam_Ribosomal_S27e,superfamily_Ribosomal_zn-bd_dom	ENSG00000185088		0.327	RPS27L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	RPS27L	HGNC	protein_coding	OTTHUMT00000339347.1	861	0.00	0	-	NM_015920		63448632	63448633	-1	no_errors	ENST00000330964	ensembl	human	known	69_37n	in_frame_ins	172	11.79	23	INS	1.000:1.000	TAC
TG	7038	genome.wustl.edu	37	8	133899093	133899093	+	Silent	SNP	A	A	G			TCGA-AO-A03U-01B-21D-A10M-09	TCGA-AO-A03U-10A-01D-A10M-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	1e0ecd57-5c7d-4495-874d-9e286c999c22	24b629ef-6829-4494-8843-9877a56303cf	g.chr8:133899093A>G	ENST00000220616.4	+	9	1516	c.1476A>G	c.(1474-1476)agA>agG	p.R492R	TG_ENST00000377869.1_Silent_p.R492R	NM_003235.4	NP_003226.4	P01266	THYG_HUMAN	thyroglobulin	492					hormone biosynthetic process (GO:0042446)|iodide transport (GO:0015705)|regulation of myelination (GO:0031641)|signal transduction (GO:0007165)|thyroid gland development (GO:0030878)|thyroid hormone generation (GO:0006590)	extracellular region (GO:0005576)|extracellular space (GO:0005615)				NS(1)|breast(11)|central_nervous_system(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(34)|liver(2)|lung(59)|ovary(9)|pancreas(2)|prostate(6)|skin(7)|stomach(4)|upper_aerodigestive_tract(4)|urinary_tract(8)	168	Ovarian(258;0.00438)|Acute lymphoblastic leukemia(118;0.155)	Myeloproliferative disorder(644;0.00878)|Acute lymphoblastic leukemia(644;0.0559)|Breast(495;0.0735)	BRCA - Breast invasive adenocarcinoma(115;0.000701)	KIRC - Kidney renal clear cell carcinoma(542;0.0546)		TTGGCACAAGAGGCACATTTA	0.448																																						dbGAP											0													75.0	78.0	77.0					8																	133899093		2203	4299	6502	-	-	-	SO:0001819	synonymous_variant	0			AU141420	CCDS34944.1	8q24	2012-10-02			ENSG00000042832	ENSG00000042832			11764	protein-coding gene	gene with protein product		188450					Standard	NM_003235		Approved	TGN, AITD3	uc003ytw.3	P01266	OTTHUMG00000164649	ENST00000220616.4:c.1476A>G	8.37:g.133899093A>G		Somatic		WXS	Illumina GAIIx	Phase_IV	O15274|O43899|Q15593|Q15948|Q9NYR1|Q9NYR2|Q9UMZ0|Q9UNY3	Silent	SNP	pfam_Thyroglobulin_1,pfam_CarbesteraseB,pfam_Tyr-kin_ephrin_A/B_rcpt-like,superfamily_Thyroglobulin_1,smart_Thyroglobulin_1,pirsf_Thyroglobulin,pfscan_Thyroglobulin_1	p.R492	ENST00000220616.4	37	c.1476	CCDS34944.1	8																																																																																			TG	-	pirsf_Thyroglobulin	ENSG00000042832		0.448	TG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TG	HGNC	protein_coding	OTTHUMT00000379606.1	48	0.00	0	A	NM_003235		133899093	133899093	+1	no_errors	ENST00000220616	ensembl	human	known	69_37n	silent	59	19.18	14	SNP	0.361	G
