#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
ANKK1	255239	genome.wustl.edu	37	11	113269854	113269855	+	Frame_Shift_Ins	INS	-	-	CA			TCGA-A8-A07U-01A-11W-A050-09	TCGA-A8-A07U-10A-01W-A055-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e6409415-8453-489d-a731-49257cade2a3	bd1d1390-403b-4e65-9ecc-430b52d2f8af	g.chr11:113269854_113269855insCA	ENST00000303941.3	+	8	1257_1258	c.1163_1164insCA	c.(1162-1167)gtggacfs	p.D389fs		NM_178510.1	NP_848605.1	Q8NFD2	ANKK1_HUMAN	ankyrin repeat and kinase domain containing 1	389							ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(2)|lung(14)|ovary(1)|stomach(1)	29		all_cancers(61;1.53e-11)|all_epithelial(67;3e-06)|Melanoma(852;4.04e-05)|all_hematologic(158;0.000315)|Acute lymphoblastic leukemia(157;0.000966)|Breast(348;0.0461)|Medulloblastoma(222;0.0523)|all_neural(223;0.0663)|Prostate(24;0.194)		BRCA - Breast invasive adenocarcinoma(274;4.82e-06)|Epithelial(105;5.41e-05)|all cancers(92;0.000442)|OV - Ovarian serous cystadenocarcinoma(223;0.238)		GAGGTAGACGTGGACTGCCAGA	0.619																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AJ541797	CCDS44734.1	11q23.2	2013-01-10			ENSG00000170209	ENSG00000170209		"""Ankyrin repeat domain containing"""	21027	protein-coding gene	gene with protein product		608774				15146457	Standard	NM_178510		Approved	X-kinase	uc001pny.3	Q8NFD2	OTTHUMG00000167715	Exception_encountered	11.37:g.113269854_113269855insCA	ENSP00000306678:p.Asp389fs	Somatic		WXS	Illumina GAIIx	Phase_IV		Frame_Shift_Ins	INS	pfam_Ankyrin_rpt,pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Ankyrin_rpt-contain_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_Prot_kinase_cat_dom,prints_Ankyrin_rpt,prints_Ser-Thr/Tyr_kinase_cat_dom	p.D389fs	ENST00000303941.3	37	c.1163_1164	CCDS44734.1	11																																																																																			ANKK1	-	superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom	ENSG00000170209		0.619	ANKK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ANKK1	HGNC	protein_coding	OTTHUMT00000395830.1	61	0.00	0	-	NM_178510		113269854	113269855	+1	no_errors	ENST00000303941	ensembl	human	known	69_37n	frame_shift_ins	41	79.90	163	INS	0.130:0.247	CA
C17orf70	80233	genome.wustl.edu	37	17	79514514	79514516	+	In_Frame_Del	DEL	TGT	TGT	-			TCGA-A8-A07U-01A-11W-A050-09	TCGA-A8-A07U-10A-01W-A055-09	TGT	TGT					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e6409415-8453-489d-a731-49257cade2a3	bd1d1390-403b-4e65-9ecc-430b52d2f8af	g.chr17:79514514_79514516delTGT	ENST00000327787.8	-	5	1638_1640	c.1592_1594delACA	c.(1591-1596)aacagc>agc	p.N531del	C17orf70_ENST00000425898.2_In_Frame_Del_p.N180del|C17orf70_ENST00000537152.1_In_Frame_Del_p.N380del			Q0VG06	FP100_HUMAN	chromosome 17 open reading frame 70	531					DNA repair (GO:0006281)	cytoplasm (GO:0005737)|Fanconi anaemia nuclear complex (GO:0043240)|intermediate filament cytoskeleton (GO:0045111)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|central_nervous_system(1)|endometrium(1)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	19	all_neural(118;0.0878)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0371)			AAGCTGCTGCTGTTCTCTAGCAC	0.645																																						dbGAP											0																																										-	-	-	SO:0001651	inframe_deletion	0			BC008883	CCDS32765.1, CCDS32765.2	17q25.3	2012-05-30			ENSG00000185504	ENSG00000185504			26171	protein-coding gene	gene with protein product	"""Fanconi anemia-associated protein, 100kDa"""	611301				17396147	Standard	NM_025161		Approved	FLJ22175, FAAP100	uc002kaq.3	Q0VG06	OTTHUMG00000167764	ENST00000327787.8:c.1592_1594delACA	17.37:g.79514514_79514516delTGT	ENSP00000333283:p.Asn531del	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NNM1|Q8N3F7|Q9BV13|Q9H6K7|Q9H7E8	In_Frame_Del	DEL	NULL	p.N531in_frame_del	ENST00000327787.8	37	c.1594_1592	CCDS32765.2	17																																																																																			C17orf70	-	NULL	ENSG00000185504		0.645	C17orf70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	C17orf70	HGNC	protein_coding	OTTHUMT00000396170.1	18	0.00	0	TGT	NM_025161		79514514	79514516	-1	no_errors	ENST00000327787	ensembl	human	known	69_37n	in_frame_del	11	69.23	27	DEL	0.000:0.228:0.951	-
CACNA1G	8913	genome.wustl.edu	37	17	48669336	48669336	+	Missense_Mutation	SNP	T	T	G			TCGA-A8-A07U-01A-11W-A050-09	TCGA-A8-A07U-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e6409415-8453-489d-a731-49257cade2a3	bd1d1390-403b-4e65-9ecc-430b52d2f8af	g.chr17:48669336T>G	ENST00000359106.5	+	13	2793	c.2793T>G	c.(2791-2793)aaT>aaG	p.N931K	CACNA1G_ENST00000416767.4_Missense_Mutation_p.N931K|CACNA1G_ENST00000515411.1_Missense_Mutation_p.N931K|CACNA1G_ENST00000352832.5_Missense_Mutation_p.N931K|CACNA1G_ENST00000514079.1_Missense_Mutation_p.N931K|CACNA1G_ENST00000507609.1_Missense_Mutation_p.N931K|CACNA1G_ENST00000503485.1_Missense_Mutation_p.N931K|CACNA1G_ENST00000513689.2_Missense_Mutation_p.N931K|CACNA1G_ENST00000512389.1_Missense_Mutation_p.N931K|CACNA1G_ENST00000507336.1_Missense_Mutation_p.N931K|CACNA1G_ENST00000429973.2_Missense_Mutation_p.N931K|CACNA1G_ENST00000502264.1_Missense_Mutation_p.N931K|CACNA1G_ENST00000354983.4_Missense_Mutation_p.N931K|CACNA1G_ENST00000360761.4_Missense_Mutation_p.N931K|CACNA1G_ENST00000358244.5_Missense_Mutation_p.N931K|CACNA1G_ENST00000442258.2_Missense_Mutation_p.N931K|CACNA1G_ENST00000510366.1_Missense_Mutation_p.N931K|CACNA1G_ENST00000513964.1_Missense_Mutation_p.N931K|CACNA1G_ENST00000514717.1_Missense_Mutation_p.N931K|CACNA1G_ENST00000514181.1_Missense_Mutation_p.N931K|CACNA1G_ENST00000505165.1_Missense_Mutation_p.N931K|CACNA1G_ENST00000510115.1_Missense_Mutation_p.N931K|CACNA1G_ENST00000515765.1_Missense_Mutation_p.N931K|CACNA1G_ENST00000507510.2_Missense_Mutation_p.N931K|CACNA1G_ENST00000507896.1_Missense_Mutation_p.N931K|CACNA1G_ENST00000515165.1_Missense_Mutation_p.N931K	NM_018896.4	NP_061496.2	O43497	CAC1G_HUMAN	calcium channel, voltage-dependent, T type, alpha 1G subunit	931					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|membrane depolarization during action potential (GO:0086010)|positive regulation of calcium ion-dependent exocytosis (GO:0045956)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of heart rate (GO:0002027)|regulation of membrane potential (GO:0042391)|response to nickel cation (GO:0010045)|synaptic transmission (GO:0007268)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	low voltage-gated calcium channel activity (GO:0008332)|scaffold protein binding (GO:0097110)			breast(5)|cervix(1)|endometrium(13)|kidney(5)|lung(23)	47	Breast(11;6.7e-17)		BRCA - Breast invasive adenocarcinoma(22;7.52e-09)		Cinnarizine(DB00568)|Ethosuximide(DB00593)|Flunarizine(DB04841)|Methsuximide(DB05246)|Spironolactone(DB00421)|Trimethadione(DB00347)|Verapamil(DB00661)|Zonisamide(DB00909)	TCCTCTACAATGGTATGGCCT	0.572																																						dbGAP											0													69.0	77.0	75.0					17																	48669336		1973	4139	6112	-	-	-	SO:0001583	missense	0			AC004590	CCDS45730.1, CCDS45731.1, CCDS45732.1, CCDS45733.1, CCDS45734.1, CCDS45735.1, CCDS45736.1, CCDS45737.1, CCDS54142.1, CCDS54143.1, CCDS54144.1, CCDS54145.1, CCDS54146.1, CCDS58565.1, CCDS58566.1, CCDS58567.1, CCDS58568.1, CCDS58569.1, CCDS58570.1, CCDS58571.1, CCDS58572.1, CCDS58573.1, CCDS58574.1, CCDS58575.1, CCDS58576.1	17q22	2012-03-07	2007-02-16		ENSG00000006283	ENSG00000006283		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1394	protein-coding gene	gene with protein product		604065				9495342, 16382099	Standard	NM_001256334		Approved	Cav3.1, NBR13	uc002irk.2	O43497	OTTHUMG00000162180	ENST00000359106.5:c.2793T>G	17.37:g.48669336T>G	ENSP00000352011:p.Asn931Lys	Somatic		WXS	Illumina GAIIx	Phase_IV	D6RA64|E7EPR0|O43498|O94770|Q19QY8|Q19QY9|Q19QZ0|Q19QZ1|Q19QZ2|Q19QZ3|Q19QZ4|Q19QZ5|Q19QZ6|Q19QZ7|Q19QZ8|Q19QZ9|Q19R00|Q19R01|Q19R02|Q19R03|Q19R04|Q19R05|Q19R06|Q19R07|Q19R08|Q19R09|Q19R10|Q19R11|Q19R12|Q19R13|Q19R15|Q19R16|Q19R17|Q19R18|Q2TAC4|Q9NYU4|Q9NYU5|Q9NYU6|Q9NYU7|Q9NYU8|Q9NYU9|Q9NYV0|Q9NYV1|Q9UHN9|Q9UHP0|Q9ULU6|Q9UNG7|Q9Y5T2|Q9Y5T3	Missense_Mutation	SNP	pfam_Ion_trans_dom,pfam_PKD1_2_channel,prints_VDCC_T_a1su,prints_VDCCAlpha1	p.N931K	ENST00000359106.5	37	c.2793	CCDS45730.1	17	.	.	.	.	.	.	.	.	.	.	t	19.59	3.855279	0.71719	.	.	ENSG00000006283	ENST00000360761;ENST00000352832;ENST00000416767;ENST00000354983;ENST00000442258;ENST00000502264;ENST00000512389;ENST00000513964;ENST00000514717;ENST00000510366;ENST00000503485;ENST00000507510;ENST00000507336;ENST00000513689;ENST00000507609;ENST00000510115;ENST00000515165;ENST00000514181;ENST00000515765;ENST00000514079;ENST00000358244;ENST00000359106;ENST00000429973;ENST00000515411;ENST00000505165;ENST00000507896	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.98381	-4.9;-4.9;-4.9;-4.9;-4.9;-4.9;-4.9;-4.9;-4.9;-4.9;-4.9;-4.9;-4.9;-4.9;-4.9;-4.9;-4.9;-4.9;-4.9;-4.9;-4.9;-4.9;-4.9;-4.9;-4.9;-4.9	4.84	-2.44	0.06502	Ion transport (1);	0.095056	0.64402	D	0.000001	D	0.97971	0.9332	L	0.58428	1.81	0.58432	D	0.999993	D;D;D;D;D;D;D;D;D;P;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.89917	0.997;1.0;0.998;0.996;0.998;0.999;0.998;1.0;0.998;0.869;1.0;1.0;1.0;1.0;0.999;1.0;1.0;1.0;1.0;1.0;0.997;1.0;1.0;1.0;0.995;1.0	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.97110	0.994;0.999;0.992;0.997;0.986;0.998;0.996;0.999;0.996;0.946;0.999;0.998;0.999;1.0;0.996;0.996;0.997;0.98;1.0;1.0;0.992;0.999;0.999;0.999;0.922;0.994	D	0.96173	0.9124	10	0.56958	D	0.05	.	11.7142	0.51643	0.0:0.4677:0.0:0.5323	.	931;931;931;931;931;931;931;931;931;931;931;931;931;931;931;931;931;931;931;931;931;931;931;931;931;931	Q19QZ5;Q19QZ1;Q19QZ4;Q19R07;Q19QY8;Q19R10;Q19QZ6;Q19QZ3;Q19R06;Q19R00;Q19R04;O43497-10;Q19QZ9;Q19QZ7;Q19R08;Q19QZ8;Q19R03;O43497-4;Q19R02;Q19R12;Q19R17;Q19R11;Q2TAC4;O43497;Q19R13;O43497-11	.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;CAC1G_HUMAN;.;.	K	931	ENSP00000353990:N931K;ENSP00000339302:N931K;ENSP00000392390:N931K;ENSP00000347078:N931K;ENSP00000409759:N931K;ENSP00000425522:N931K;ENSP00000426261:N931K;ENSP00000425451:N931K;ENSP00000422407:N931K;ENSP00000426814:N931K;ENSP00000427238:N931K;ENSP00000423112:N931K;ENSP00000420918:N931K;ENSP00000426172:N931K;ENSP00000423045:N931K;ENSP00000427173:N931K;ENSP00000426098:N931K;ENSP00000425698:N931K;ENSP00000426232:N931K;ENSP00000423317:N931K;ENSP00000350979:N931K;ENSP00000352011:N931K;ENSP00000414388:N931K;ENSP00000423155:N931K;ENSP00000422268:N931K;ENSP00000421518:N931K	ENSP00000339302:N931K	N	+	3	2	CACNA1G	46024335	0.000000	0.05858	0.991000	0.47740	0.940000	0.58332	-6.886000	0.00050	-0.336000	0.08438	0.379000	0.24179	AAT	CACNA1G	-	pfam_Ion_trans_dom	ENSG00000006283		0.572	CACNA1G-013	KNOWN	basic|CCDS	protein_coding	CACNA1G	HGNC	protein_coding	OTTHUMT00000367895.1	272	0.00	0	T	NM_018896		48669336	48669336	+1	no_errors	ENST00000359106	ensembl	human	known	69_37n	missense	101	10.62	12	SNP	0.993	G
CCDC57	284001	genome.wustl.edu	37	17	80159705	80159705	+	Frame_Shift_Del	DEL	G	G	-			TCGA-A8-A07U-01A-11W-A050-09	TCGA-A8-A07U-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e6409415-8453-489d-a731-49257cade2a3	bd1d1390-403b-4e65-9ecc-430b52d2f8af	g.chr17:80159705delG	ENST00000389641.4	-	2	152	c.116delC	c.(115-117)acafs	p.T39fs	CCDC57_ENST00000392343.3_Frame_Shift_Del_p.T39fs|CCDC57_ENST00000392347.1_Frame_Shift_Del_p.T39fs			Q2TAC2	CCD57_HUMAN	coiled-coil domain containing 57	39										endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(1)	16	Breast(20;0.00285)|all_neural(118;0.0878)|all_lung(278;0.0949)|Lung NSC(278;0.128)|Ovarian(332;0.227)		BRCA - Breast invasive adenocarcinoma(99;0.0232)|OV - Ovarian serous cystadenocarcinoma(97;0.0253)			CTGGCTCCGTGTGTCCTGCAG	0.657																																						dbGAP											0													33.0	39.0	37.0					17																	80159705		2139	4242	6381	-	-	-	SO:0001589	frameshift_variant	0			BC040264		17q25.3	2006-03-08			ENSG00000176155	ENSG00000176155			27564	protein-coding gene	gene with protein product						12477932	Standard	XM_006722279		Approved	FLJ00130, FLJ23754	uc002kdx.1	Q2TAC2	OTTHUMG00000140396	ENST00000389641.4:c.116delC	17.37:g.80159705delG	ENSP00000374292:p.Thr39fs	Somatic		WXS	Illumina GAIIx	Phase_IV	A6NP51|A8MQC7|Q8IWG2|Q8TER3	Frame_Shift_Del	DEL	NULL	p.T39fs	ENST00000389641.4	37	c.116		17																																																																																			CCDC57	-	NULL	ENSG00000176155		0.657	CCDC57-001	KNOWN	basic|appris_candidate_longest	protein_coding	CCDC57	HGNC	protein_coding	OTTHUMT00000277182.3	31	0.00	0	G	NM_198082		80159705	80159705	-1	no_errors	ENST00000389641	ensembl	human	known	69_37n	frame_shift_del	25	32.43	12	DEL	0.002	-
CD22	933	genome.wustl.edu	37	19	35835800	35835800	+	Missense_Mutation	SNP	G	G	T			TCGA-A8-A07U-01A-11W-A050-09	TCGA-A8-A07U-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e6409415-8453-489d-a731-49257cade2a3	bd1d1390-403b-4e65-9ecc-430b52d2f8af	g.chr19:35835800G>T	ENST00000085219.5	+	10	2170	c.2104G>T	c.(2104-2106)Gca>Tca	p.A702S	CD22_ENST00000270311.6_Missense_Mutation_p.A582S|CD22_ENST00000594250.1_Missense_Mutation_p.A525S|CD22_ENST00000536635.2_Missense_Mutation_p.A614S|MIR5196_ENST00000578146.1_RNA|CD22_ENST00000419549.2_Missense_Mutation_p.A530S|CD22_ENST00000341773.6_Missense_Mutation_p.A525S|CD22_ENST00000544992.2_Missense_Mutation_p.A702S	NM_001771.3	NP_001762.2	P20273	CD22_HUMAN	CD22 molecule	702					cell adhesion (GO:0007155)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	carbohydrate binding (GO:0030246)	p.A702S(1)		breast(2)|endometrium(2)|kidney(3)|large_intestine(14)|lung(21)|ovary(5)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|urinary_tract(1)	54	all_lung(56;9.78e-09)|Lung NSC(56;1.46e-08)|Esophageal squamous(110;0.162)		Epithelial(14;5.83e-19)|OV - Ovarian serous cystadenocarcinoma(14;3.19e-18)|all cancers(14;3.41e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)			CCTCATCCTGGCAATCTGTGG	0.612																																					Ovarian(42;1009 1133 23674 26041)	dbGAP											1	Substitution - Missense(1)	lung(1)											100.0	100.0	100.0					19																	35835800		2203	4300	6503	-	-	-	SO:0001583	missense	0			X52785	CCDS12457.1, CCDS54247.1, CCDS54248.1, CCDS54249.1, CCDS62634.1	19q13.1	2013-01-29	2006-03-28		ENSG00000012124	ENSG00000012124		"""CD molecules"", ""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1643	protein-coding gene	gene with protein product	"""sialic acid binding Ig-like lectin 2"""	107266	"""CD22 antigen"""			8496602, 1691828	Standard	NM_001185099		Approved	SIGLEC-2, SIGLEC2	uc010edt.3	P20273		ENST00000085219.5:c.2104G>T	19.37:g.35835800G>T	ENSP00000085219:p.Ala702Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	F5GYU4|F5H7U3|O95699|O95701|O95702|O95703|Q01665|Q32M46|Q92872|Q92873|Q9UQA6|Q9UQA7|Q9UQA8|Q9UQA9|Q9UQB0|Q9Y2A6	Missense_Mutation	SNP	pfam_Immunoglobulin,pfam_Ig_I-set,pfam_CD80_C2-set,smart_Ig_sub,smart_Ig_sub2,pfscan_Ig-like	p.A702S	ENST00000085219.5	37	c.2104	CCDS12457.1	19	.	.	.	.	.	.	.	.	.	.	G	17.56	3.419376	0.62622	.	.	ENSG00000012124	ENST00000085219;ENST00000536635;ENST00000341773;ENST00000544992;ENST00000270311;ENST00000419549	T;T;T;T;T;T	0.57907	0.84;0.45;0.37;0.84;0.76;0.93	5.37	2.12	0.27331	.	0.603326	0.14753	N	0.300475	T	0.55752	0.1940	L	0.56769	1.78	0.24271	N	0.995249	P;P;P;P;D	0.52996	0.937;0.897;0.918;0.842;0.957	P;P;P;B;P	0.53518	0.482;0.485;0.589;0.366;0.728	T	0.42649	-0.9439	10	0.46703	T	0.11	.	6.6094	0.22743	0.2903:0.0:0.7097:0.0	.	530;702;614;702;525	Q32M46;F5GYU4;F5H7U3;P20273;P20273-2	.;.;.;CD22_HUMAN;.	S	702;614;525;702;582;530	ENSP00000085219:A702S;ENSP00000442279:A614S;ENSP00000339349:A525S;ENSP00000441237:A702S;ENSP00000270311:A582S;ENSP00000403822:A530S	ENSP00000085219:A702S	A	+	1	0	CD22	40527640	0.565000	0.26610	0.672000	0.29872	0.153000	0.21895	0.591000	0.23969	0.655000	0.30866	0.563000	0.77884	GCA	CD22	-	NULL	ENSG00000012124		0.612	CD22-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CD22	HGNC	protein_coding	OTTHUMT00000466099.1	115	0.00	0	G	NM_001771		35835800	35835800	+1	no_errors	ENST00000085219	ensembl	human	known	69_37n	missense	390	16.77	79	SNP	0.524	T
CLK2	1196	genome.wustl.edu	37	1	155233103	155233104	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A8-A07U-01A-11W-A050-09	TCGA-A8-A07U-10A-01W-A055-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e6409415-8453-489d-a731-49257cade2a3	bd1d1390-403b-4e65-9ecc-430b52d2f8af	g.chr1:155233103_155233104insC	ENST00000368361.4	-	13	1720_1721	c.1405_1406insG	c.(1405-1407)accfs	p.T469fs	SCAMP3_ENST00000472397.1_5'Flank|CLK2_ENST00000355560.4_Frame_Shift_Ins_p.T467fs|CLK2_ENST00000497188.1_5'UTR|SCAMP3_ENST00000355379.3_5'Flank|CLK2_ENST00000361168.5_Frame_Shift_Ins_p.T468fs|SCAMP3_ENST00000302631.3_5'Flank|CLK2_ENST00000536801.1_Frame_Shift_Ins_p.T469fs			P49760	CLK2_HUMAN	CDC-like kinase 2	469	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				negative regulation of gluconeogenesis (GO:0045721)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of RNA splicing (GO:0043484)|response to ionizing radiation (GO:0010212)|response to retinoic acid (GO:0032526)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)			endometrium(4)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	22	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			TTCACCCAAGGTCAGCCGCTTA	0.564								Other conserved DNA damage response genes																														dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			L29218	CCDS1107.1, CCDS72939.1	1q21	2008-05-02			ENSG00000176444	ENSG00000176444		"""CDC-like kinases"""	2069	protein-coding gene	gene with protein product		602989				7990150, 9856501	Standard	XM_005244876		Approved	clk2	uc001fjw.3	P49760	OTTHUMG00000035873	ENST00000368361.4:c.1405_1406insG	1.37:g.155233103_155233104insC	ENSP00000357345:p.Thr469fs	Somatic		WXS	Illumina GAIIx	Phase_IV	B1AVS9|B5MBX6|Q96CQ0	Frame_Shift_Ins	INS	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.T469fs	ENST00000368361.4	37	c.1406_1405		1																																																																																			CLK2	-	pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	ENSG00000176444		0.564	CLK2-001	KNOWN	basic|appris_candidate_longest	protein_coding	CLK2	HGNC	protein_coding	OTTHUMT00000087391.1	131	0.00	0	-	NM_003993		155233103	155233104	-1	no_errors	ENST00000368361	ensembl	human	known	69_37n	frame_shift_ins	124	42.59	92	INS	1.000:1.000	C
CLK2	1196	genome.wustl.edu	37	1	155233108	155233109	+	Frame_Shift_Ins	INS	-	-	T			TCGA-A8-A07U-01A-11W-A050-09	TCGA-A8-A07U-10A-01W-A055-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e6409415-8453-489d-a731-49257cade2a3	bd1d1390-403b-4e65-9ecc-430b52d2f8af	g.chr1:155233108_155233109insT	ENST00000368361.4	-	13	1715_1716	c.1400_1401insA	c.(1399-1401)cggfs	p.R467fs	SCAMP3_ENST00000472397.1_5'Flank|CLK2_ENST00000355560.4_Frame_Shift_Ins_p.R465fs|CLK2_ENST00000497188.1_5'UTR|SCAMP3_ENST00000355379.3_5'Flank|CLK2_ENST00000361168.5_Frame_Shift_Ins_p.R466fs|SCAMP3_ENST00000302631.3_5'Flank|CLK2_ENST00000536801.1_Frame_Shift_Ins_p.R467fs			P49760	CLK2_HUMAN	CDC-like kinase 2	467	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				negative regulation of gluconeogenesis (GO:0045721)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of RNA splicing (GO:0043484)|response to ionizing radiation (GO:0010212)|response to retinoic acid (GO:0032526)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)			endometrium(4)|lung(12)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	22	all_lung(78;2.32e-23)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		Epithelial(20;3.72e-10)|all cancers(21;1.19e-09)|BRCA - Breast invasive adenocarcinoma(34;0.000752)|LUSC - Lung squamous cell carcinoma(543;0.193)			CCAAGGTCAGCCGCTTAGCTGG	0.574								Other conserved DNA damage response genes																														dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			L29218	CCDS1107.1, CCDS72939.1	1q21	2008-05-02			ENSG00000176444	ENSG00000176444		"""CDC-like kinases"""	2069	protein-coding gene	gene with protein product		602989				7990150, 9856501	Standard	XM_005244876		Approved	clk2	uc001fjw.3	P49760	OTTHUMG00000035873	ENST00000368361.4:c.1400_1401insA	1.37:g.155233108_155233109insT	ENSP00000357345:p.Arg467fs	Somatic		WXS	Illumina GAIIx	Phase_IV	B1AVS9|B5MBX6|Q96CQ0	Frame_Shift_Ins	INS	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	p.L468fs	ENST00000368361.4	37	c.1401_1400		1																																																																																			CLK2	-	pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	ENSG00000176444		0.574	CLK2-001	KNOWN	basic|appris_candidate_longest	protein_coding	CLK2	HGNC	protein_coding	OTTHUMT00000087391.1	132	0.00	0	-	NM_003993		155233108	155233109	-1	no_errors	ENST00000368361	ensembl	human	known	69_37n	frame_shift_ins	126	42.20	92	INS	0.935:1.000	T
CLSTN2	64084	genome.wustl.edu	37	3	140122491	140122491	+	Missense_Mutation	SNP	A	A	T			TCGA-A8-A07U-01A-11W-A050-09	TCGA-A8-A07U-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e6409415-8453-489d-a731-49257cade2a3	bd1d1390-403b-4e65-9ecc-430b52d2f8af	g.chr3:140122491A>T	ENST00000458420.3	+	3	443	c.253A>T	c.(253-255)Atc>Ttc	p.I85F	AC092988.1_ENST00000580582.1_RNA	NM_022131.2	NP_071414.2	Q9H4D0	CSTN2_HUMAN	calsyntenin 2	85	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(13)|liver(1)|lung(42)|pancreas(2)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	87						TGCGTTCAAGATCCATGGCCA	0.532										HNSCC(16;0.037)																											GBM(45;858 913 3709 36904 37282)	dbGAP											0													168.0	159.0	162.0					3																	140122491		2203	4300	6503	-	-	-	SO:0001583	missense	0			AJ278018	CCDS3112.1	3q23	2011-07-01			ENSG00000158258	ENSG00000158258		"""Cadherins / Cadherin-related"""	17448	protein-coding gene	gene with protein product	"""cadherin-related family member 13"""	611323				12498782	Standard	NM_022131		Approved	CSTN2, CS2, FLJ39113, CDHR13	uc003etn.3	Q9H4D0	OTTHUMG00000160139	ENST00000458420.3:c.253A>T	3.37:g.140122491A>T	ENSP00000402460:p.Ile85Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	B2RCW5|D3DNF4|Q3SX54|Q3ZB76|Q5UE56|Q96HZ2|Q9BSS0	Missense_Mutation	SNP	pfam_Cadherin,superfamily_ConA-like_lec_gl,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.I85F	ENST00000458420.3	37	c.253	CCDS3112.1	3	.	.	.	.	.	.	.	.	.	.	A	31	5.095807	0.94197	.	.	ENSG00000158258	ENST00000458420	T	0.49432	0.78	5.63	5.63	0.86233	Cadherin (3);Cadherin-like (1);	0.000000	0.85682	D	0.000000	T	0.66829	0.2829	M	0.81112	2.525	0.80722	D	1	D	0.69078	0.997	P	0.60789	0.879	T	0.71866	-0.4463	10	0.66056	D	0.02	.	13.8072	0.63240	1.0:0.0:0.0:0.0	.	85	Q9H4D0	CSTN2_HUMAN	F	85	ENSP00000402460:I85F	ENSP00000402460:I85F	I	+	1	0	CLSTN2	141605181	1.000000	0.71417	1.000000	0.80357	0.879000	0.50718	8.796000	0.91877	2.141000	0.66446	0.528000	0.53228	ATC	CLSTN2	-	superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin	ENSG00000158258		0.532	CLSTN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	CLSTN2	HGNC	protein_coding	OTTHUMT00000359393.3	134	0.00	0	A	NM_022131		140122491	140122491	+1	no_errors	ENST00000458420	ensembl	human	known	69_37n	missense	216	19.10	51	SNP	1.000	T
CREB3L1	90993	genome.wustl.edu	37	11	46341932	46341932	+	Missense_Mutation	SNP	C	C	T			TCGA-A8-A07U-01A-11W-A050-09	TCGA-A8-A07U-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e6409415-8453-489d-a731-49257cade2a3	bd1d1390-403b-4e65-9ecc-430b52d2f8af	g.chr11:46341932C>T	ENST00000529193.1	+	11	1827	c.1376C>T	c.(1375-1377)gCa>gTa	p.A459V	CREB3L1_ENST00000288400.3_Missense_Mutation_p.A459V			Q96BA8	CR3L1_HUMAN	cAMP responsive element binding protein 3-like 1	459					regulation of bone mineralization (GO:0030500)|response to unfolded protein (GO:0006986)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)		FUS/CREB3L1(6)	NS(2)|breast(1)|large_intestine(4)|lung(2)|ovary(3)	12				GBM - Glioblastoma multiforme(35;0.0285)		GGGGGGCCGGCAGAGCAGCGG	0.637			T	FUS	myxofibrosarcoma																																Pancreas(3;159 194 19597 26278 47995)	dbGAP		Dom	yes		11	11p11.2	90993	cAMP responsive element binding protein 3-like 1		M	0													21.0	26.0	25.0					11																	46341932		1998	4137	6135	-	-	-	SO:0001583	missense	0				CCDS53620.1	11q11	2013-01-10				ENSG00000157613		"""basic leucine zipper proteins"""	18856	protein-coding gene	gene with protein product	"""BBF-2 homolog (drosophila)"""						Standard	NM_052854		Approved	OASIS	uc021qil.1	Q96BA8		ENST00000529193.1:c.1376C>T	11.37:g.46341932C>T	ENSP00000434939:p.Ala459Val	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8N2D5|Q96CP0	Missense_Mutation	SNP	pfam_bZIP_1,pfam_bZIP_2,superfamily_Euk_TF_DNA-bd,smart_bZIP,pfscan_bZIP,prints_Leuzip_CREB	p.A459V	ENST00000529193.1	37	c.1376	CCDS53620.1	11	.	.	.	.	.	.	.	.	.	.	C	11.62	1.693725	0.30052	.	.	ENSG00000157613	ENST00000529193;ENST00000288400;ENST00000446415	T;T	0.64085	-0.08;-0.08	4.79	-1.23	0.09465	.	0.692408	0.13553	N	0.379314	T	0.31979	0.0814	N	0.11255	0.115	0.09310	N	1	B;B	0.13145	0.007;0.0	B;B	0.10450	0.005;0.0	T	0.10222	-1.0639	10	0.28530	T	0.3	-25.1436	0.8445	0.01158	0.2198:0.2726:0.1152:0.3924	.	371;459	Q96BA8-2;Q96BA8	.;CR3L1_HUMAN	V	459;459;371	ENSP00000434939:A459V;ENSP00000288400:A459V	ENSP00000288400:A459V	A	+	2	0	CREB3L1	46298508	0.290000	0.24343	0.027000	0.17364	0.911000	0.54048	0.839000	0.27586	-0.101000	0.12219	0.430000	0.28490	GCA	CREB3L1	-	NULL	ENSG00000157613		0.637	CREB3L1-001	KNOWN	non_canonical_genome_sequence_error|basic|appris_principal|CCDS	protein_coding	CREB3L1	HGNC	protein_coding	OTTHUMT00000389702.1	124	0.00	0	C	NM_052854		46341932	46341932	+1	no_errors	ENST00000288400	ensembl	human	known	69_37n	missense	158	31.90	74	SNP	0.003	T
DDR1	780	genome.wustl.edu	37	6	30864625	30864625	+	Missense_Mutation	SNP	G	G	C			TCGA-A8-A07U-01A-11W-A050-09	TCGA-A8-A07U-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e6409415-8453-489d-a731-49257cade2a3	bd1d1390-403b-4e65-9ecc-430b52d2f8af	g.chr6:30864625G>C	ENST00000324771.8	+	15	2400	c.1852G>C	c.(1852-1854)Gag>Cag	p.E618Q	DDR1_ENST00000376569.3_Missense_Mutation_p.E581Q|DDR1_ENST00000376575.3_Missense_Mutation_p.E618Q|DDR1_ENST00000452441.1_Missense_Mutation_p.E618Q|DDR1_ENST00000376568.3_Missense_Mutation_p.E618Q|DDR1_ENST00000446312.1_3'UTR|DDR1_ENST00000508312.1_Missense_Mutation_p.E599Q|DDR1_ENST00000418800.2_Missense_Mutation_p.E581Q|DDR1_ENST00000376570.4_Missense_Mutation_p.E581Q|DDR1_ENST00000361741.4_Missense_Mutation_p.E285Q|DDR1_ENST00000513240.1_Missense_Mutation_p.E618Q|DDR1_ENST00000454612.2_Missense_Mutation_p.E581Q|DDR1_ENST00000376567.2_Missense_Mutation_p.E581Q			Q08345	DDR1_HUMAN	discoidin domain receptor tyrosine kinase 1	618	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				branching involved in mammary gland duct morphogenesis (GO:0060444)|cell adhesion (GO:0007155)|collagen-activated tyrosine kinase receptor signaling pathway (GO:0038063)|ear development (GO:0043583)|embryo implantation (GO:0007566)|extracellular matrix organization (GO:0030198)|lactation (GO:0007595)|mammary gland alveolus development (GO:0060749)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine autophosphorylation (GO:0038083)|protein autophosphorylation (GO:0046777)|regulation of cell growth (GO:0001558)|regulation of cell-matrix adhesion (GO:0001952)|regulation of extracellular matrix disassembly (GO:0010715)|smooth muscle cell migration (GO:0014909)|smooth muscle cell-matrix adhesion (GO:0061302)|wound healing, spreading of cells (GO:0044319)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|collagen binding (GO:0005518)|metal ion binding (GO:0046872)|protein tyrosine kinase collagen receptor activity (GO:0038062)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(14)|ovary(1)|prostate(1)|skin(1)	29					Imatinib(DB00619)	GAAGCTTGGCGAGGGCCAGTT	0.622																																						dbGAP											0													69.0	78.0	75.0					6																	30864625		2203	4300	6503	-	-	-	SO:0001583	missense	0			X99031	CCDS4690.1, CCDS34385.1, CCDS47396.1, CCDS56411.1, CCDS75419.1	6p21.33	2010-02-17	2008-01-23		ENSG00000204580	ENSG00000204580	2.7.10.1	"""CD molecules"""	2730	protein-coding gene	gene with protein product		600408	"""discoidin domain receptor family, member 1"""	NTRK4, PTK3A, NEP, CAK, EDDR1		7789998	Standard	NM_001954		Approved	RTK6, CD167	uc003nrv.3	Q08345	OTTHUMG00000031236	ENST00000324771.8:c.1852G>C	6.37:g.30864625G>C	ENSP00000318217:p.Glu618Gln	Somatic		WXS	Illumina GAIIx	Phase_IV	B5A975|B5A976|B7Z2K0|Q14196|Q16562|Q2L6H3|Q4LE50|Q5ST11|Q5ST12|Q6NSK4|Q9UD35|Q9UD36|Q9UD37|Q9UD86|Q9UDL2	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,pfam_Coagulation_fac_5/8-C_type_dom,superfamily_Kinase-like_dom,superfamily_Galactose-bd-like,smart_Coagulation_fac_5/8-C_type_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom,pfscan_Coagulation_fac_5/8-C_type_dom,pfscan_Prot_kinase_cat_dom	p.E618Q	ENST00000324771.8	37	c.1852	CCDS34385.1	6	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	28.5|28.5	4.928557|4.928557	0.92389|0.92389	.|.	.|.	ENSG00000204580|ENSG00000204580	ENST00000324771;ENST00000418800;ENST00000454612;ENST00000376569;ENST00000376575;ENST00000376570;ENST00000376568;ENST00000452441;ENST00000508312;ENST00000376567;ENST00000513240;ENST00000417521;ENST00000361741|ENST00000514434	D;D;D;D;D;D;D;D;D;D;D;D;D|.	0.82984|.	-1.67;-1.67;-1.67;-1.67;-1.67;-1.67;-1.67;-1.67;-1.67;-1.67;-1.67;-1.67;-1.67|.	5.43|5.43	5.43|5.43	0.79202|0.79202	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.47078|0.47078	0.1426|0.1426	L|L	0.33137|0.33137	0.985|0.985	0.80722|0.80722	D|D	1|1	D;D;D;D|.	0.89917|.	1.0;0.999;1.0;1.0|.	D;D;D;D|.	0.91635|.	0.998;0.988;0.998;0.999|.	T|T	0.40098|0.40098	-0.9581|-0.9581	10|5	0.45353|.	T|.	0.12|.	.|.	16.7367|16.7367	0.85448|0.85448	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	599;350;618;618|.	B7Z2K0;A2ABM8;Q08345-5;Q08345|.	.;.;.;DDR1_HUMAN|.	Q|P	618;581;581;581;618;581;618;618;599;581;618;350;285|109	ENSP00000318217:E618Q;ENSP00000407699:E581Q;ENSP00000406091:E581Q;ENSP00000365753:E581Q;ENSP00000365759:E618Q;ENSP00000365754:E581Q;ENSP00000365752:E618Q;ENSP00000405039:E618Q;ENSP00000422442:E599Q;ENSP00000365751:E581Q;ENSP00000427552:E618Q;ENSP00000398682:E350Q;ENSP00000354844:E285Q|.	ENSP00000318217:E618Q|.	E|R	+|+	1|2	0|0	DDR1|DDR1	30972604|30972604	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.996000|0.996000	0.88848|0.88848	9.375000|9.375000	0.97178|0.97178	2.548000|2.548000	0.85928|0.85928	0.561000|0.561000	0.74099|0.74099	GAG|CGA	DDR1	-	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Prot_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom	ENSG00000204580		0.622	DDR1-005	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	DDR1	HGNC	protein_coding	OTTHUMT00000076494.3	63	0.00	0	G	NM_013994		30864625	30864625	+1	no_errors	ENST00000376575	ensembl	human	known	69_37n	missense	40	18.37	9	SNP	1.000	C
EFCAB5	374786	genome.wustl.edu	37	17	28419935	28419935	+	Silent	SNP	T	T	G			TCGA-A8-A07U-01A-11W-A050-09	TCGA-A8-A07U-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e6409415-8453-489d-a731-49257cade2a3	bd1d1390-403b-4e65-9ecc-430b52d2f8af	g.chr17:28419935T>G	ENST00000394835.3	+	22	4494	c.4302T>G	c.(4300-4302)ctT>ctG	p.L1434L	EFCAB5_ENST00000394832.2_Intron|EFCAB5_ENST00000320856.5_Silent_p.L1310L|RP11-1148O4.2_ENST00000582938.1_RNA	NM_198529.3	NP_940931	A4FU69	EFCB5_HUMAN	EF-hand calcium binding domain 5	1434							calcium ion binding (GO:0005509)			breast(7)|endometrium(2)|kidney(4)|large_intestine(11)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						ATGTACAGCTTATTGATGAAT	0.318																																						dbGAP											0													112.0	102.0	105.0					17																	28419935		1842	4091	5933	-	-	-	SO:0001819	synonymous_variant	0			AL833911	CCDS11254.2, CCDS54103.1	17q11.2	2013-01-10			ENSG00000176927	ENSG00000176927		"""EF-hand domain containing"""	24801	protein-coding gene	gene with protein product							Standard	NM_198529		Approved	FLJ46247	uc002het.3	A4FU69	OTTHUMG00000132753	ENST00000394835.3:c.4302T>G	17.37:g.28419935T>G		Somatic		WXS	Illumina GAIIx	Phase_IV	B2RPN0|B4DS75|B4DZR5|F5GYL2|Q0VD68|Q6ZRM6|Q8NDG9	Silent	SNP	pfscan_EF_HAND_2	p.L1434	ENST00000394835.3	37	c.4302	CCDS11254.2	17																																																																																			EFCAB5	-	NULL	ENSG00000176927		0.318	EFCAB5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	EFCAB5	HGNC	protein_coding	OTTHUMT00000256120.4	148	0.00	0	T	NM_198529		28419935	28419935	+1	no_errors	ENST00000394835	ensembl	human	known	69_37n	silent	237	21.71	66	SNP	0.163	G
GALNT11	63917	genome.wustl.edu	37	7	151800318	151800318	+	Missense_Mutation	SNP	C	C	T			TCGA-A8-A07U-01A-11W-A050-09	TCGA-A8-A07U-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e6409415-8453-489d-a731-49257cade2a3	bd1d1390-403b-4e65-9ecc-430b52d2f8af	g.chr7:151800318C>T	ENST00000434507.1	+	6	978	c.541C>T	c.(541-543)Cac>Tac	p.H181Y	GALNT11_ENST00000422997.2_3'UTR|GALNT11_ENST00000415421.1_Missense_Mutation_p.H181Y|GALNT11_ENST00000452146.2_Missense_Mutation_p.H100Y|GALNT11_ENST00000482812.1_3'UTR|GALNT11_ENST00000430044.2_Missense_Mutation_p.H181Y|GALNT11_ENST00000320311.2_Missense_Mutation_p.H181Y			Q8NCW6	GLT11_HUMAN	polypeptide N-acetylgalactosaminyltransferase 11	181	Catalytic subdomain A.				cellular protein metabolic process (GO:0044267)|cilium morphogenesis (GO:0060271)|determination of left/right symmetry (GO:0007368)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein O-linked glycosylation via threonine (GO:0018243)|regulation of Notch signaling pathway (GO:0008593)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|Notch binding (GO:0005112)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(7)|prostate(5)|skin(2)	27	all_neural(206;0.187)	all_hematologic(28;0.0592)|Prostate(32;0.214)	OV - Ovarian serous cystadenocarcinoma(82;0.00168)	UCEC - Uterine corpus endometrioid carcinoma (81;0.177)|BRCA - Breast invasive adenocarcinoma(188;0.0932)		CACGCCAGCACACCTGCTTCA	0.488																																						dbGAP											0													167.0	128.0	141.0					7																	151800318		2203	4300	6503	-	-	-	SO:0001583	missense	0			AC006017	CCDS5930.1	7q36.1	2014-05-09	2014-05-09		ENSG00000178234	ENSG00000178234	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	19875	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 11"""	615130	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 11 (GalNAc-T11)"""			11925450	Standard	NM_022087		Approved	GalNAc-T11	uc010lqg.1	Q8NCW6	OTTHUMG00000157251	ENST00000434507.1:c.541C>T	7.37:g.151800318C>T	ENSP00000416787:p.His181Tyr	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KWF4|Q6PCD1|Q9H6C2|Q9H6Z5|Q9UDR8	Missense_Mutation	SNP	pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin	p.H181Y	ENST00000434507.1	37	c.541	CCDS5930.1	7	.	.	.	.	.	.	.	.	.	.	C	0.007	-1.998717	0.00435	.	.	ENSG00000178234	ENST00000430044;ENST00000452146;ENST00000443352;ENST00000434507;ENST00000415421;ENST00000320311;ENST00000419245	T;T;T;T;T;T	0.59502	0.26;0.26;0.26;0.26;0.26;0.26	5.0	4.12	0.48240	Glycosyl transferase, family 2 (1);	0.477654	0.23296	N	0.049739	T	0.45915	0.1366	L	0.41824	1.3	0.36888	D	0.889763	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.06405	0.002;0.001;0.001	T	0.43782	-0.9370	10	0.13470	T	0.59	.	13.1855	0.59677	0.0:0.9226:0.0:0.0774	.	100;181;181	B7Z5G5;Q8NCW6-2;Q8NCW6	.;.;GLT11_HUMAN	Y	181;100;181;181;181;181;181	ENSP00000395122:H181Y;ENSP00000393399:H100Y;ENSP00000416787:H181Y;ENSP00000410093:H181Y;ENSP00000315835:H181Y;ENSP00000397581:H181Y	ENSP00000315835:H181Y	H	+	1	0	GALNT11	151431251	0.000000	0.05858	0.013000	0.15412	0.010000	0.07245	0.033000	0.13754	1.093000	0.41377	0.655000	0.94253	CAC	GALNT11	-	pfam_Glyco_trans_2	ENSG00000178234		0.488	GALNT11-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	GALNT11	HGNC	protein_coding	OTTHUMT00000348184.1	138	0.00	0	C	NM_022087		151800318	151800318	+1	no_errors	ENST00000320311	ensembl	human	known	69_37n	missense	162	27.23	61	SNP	0.285	T
HNRNPU	3192	genome.wustl.edu	37	1	245027315	245027315	+	Silent	SNP	G	G	A			TCGA-A8-A07U-01A-11W-A050-09	TCGA-A8-A07U-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e6409415-8453-489d-a731-49257cade2a3	bd1d1390-403b-4e65-9ecc-430b52d2f8af	g.chr1:245027315G>A	ENST00000283179.9	-	1	458	c.295C>T	c.(295-297)Ctg>Ttg	p.L99L	RP11-11N7.4_ENST00000610145.1_lincRNA|HNRNPU_ENST00000444376.2_Silent_p.L99L			Q00839	HNRPU_HUMAN	heterogeneous nuclear ribonucleoprotein U (scaffold attachment factor A)	99	Asp/Glu-rich (acidic).				CRD-mediated mRNA stabilization (GO:0070934)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|osteoblast differentiation (GO:0001649)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|CRD-mediated mRNA stability complex (GO:0070937)|cytoplasmic ribonucleoprotein granule (GO:0036464)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			NS(1)|endometrium(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20	all_cancers(71;6.97e-06)|all_epithelial(71;0.000104)|all_neural(11;0.0269)|Breast(184;0.0545)|Glioma(6;0.0724)|Ovarian(71;0.0761)|all_lung(81;0.0989)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.00868)			TCGCCGTCCAGAGCGGAGATT	0.697																																					NSCLC(33;911 1010 3329 23631 49995)	dbGAP											0													11.0	14.0	13.0					1																	245027315		2148	4234	6382	-	-	-	SO:0001819	synonymous_variant	0			X65488	CCDS31081.1, CCDS41479.1	1q44	2011-10-24		2007-08-16	ENSG00000153187	ENSG00000153187			5048	protein-coding gene	gene with protein product		602869		HNRPU		7509195, 8068679	Standard	NM_031844		Approved	SAF-A, hnRNPU	uc001iaz.1	Q00839	OTTHUMG00000040396	ENST00000283179.9:c.295C>T	1.37:g.245027315G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	O75507|Q8N174|Q96HY9|Q9BQ09	Silent	SNP	pfam_SPRY_rcpt,pfam_SAP_DNA-bd,pfam_Zeta_toxin_domain,superfamily_ConA-like_lec_gl,smart_SAP_DNA-bd,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_SAP_DNA-bd	p.L99	ENST00000283179.9	37	c.295	CCDS41479.1	1																																																																																			HNRNPU	-	NULL	ENSG00000153187		0.697	HNRNPU-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	HNRNPU	HGNC	protein_coding	OTTHUMT00000097163.3	14	0.00	0	G	NM_031844		245027315	245027315	-1	no_errors	ENST00000283179	ensembl	human	known	69_37n	silent	19	24.00	6	SNP	0.994	A
ISLR2	57611	genome.wustl.edu	37	15	74425335	74425335	+	Frame_Shift_Del	DEL	G	G	-			TCGA-A8-A07U-01A-11W-A050-09	TCGA-A8-A07U-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e6409415-8453-489d-a731-49257cade2a3	bd1d1390-403b-4e65-9ecc-430b52d2f8af	g.chr15:74425335delG	ENST00000361742.3	+	4	1009	c.240delG	c.(238-240)ctgfs	p.L80fs	ISLR2_ENST00000445793.1_Frame_Shift_Del_p.L80fs|ISLR2_ENST00000561975.1_Intron|ISLR2_ENST00000565540.1_Frame_Shift_Del_p.L80fs|ISLR2_ENST00000419208.1_Frame_Shift_Del_p.L80fs|ISLR2_ENST00000565159.1_Frame_Shift_Del_p.L80fs|ISLR2_ENST00000435464.1_Frame_Shift_Del_p.L80fs|ISLR2_ENST00000453268.2_Frame_Shift_Del_p.L80fs	NM_001130136.1|NM_020851.2	NP_001123608.1|NP_065902.1	Q6UXK2	ISLR2_HUMAN	immunoglobulin superfamily containing leucine-rich repeat 2	80					positive regulation of axon extension (GO:0045773)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(3)|endometrium(6)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	36						TCACGTCGCTGTGGCTGGCGC	0.617																																						dbGAP											0													51.0	45.0	47.0					15																	74425335		2196	4297	6493	-	-	-	SO:0001589	frameshift_variant	0				CCDS10259.1	15q24.1	2013-01-11			ENSG00000167178	ENSG00000167178		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	29286	protein-coding gene	gene with protein product		614179				10819331, 12975309	Standard	NM_001130136		Approved	KIAA1465	uc010bjf.3	Q6UXK2	OTTHUMG00000137624	ENST00000361742.3:c.240delG	15.37:g.74425335delG	ENSP00000355402:p.Leu80fs	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K352|Q9P263	Frame_Shift_Del	DEL	pfam_Leu-rich_rpt,superfamily_Fibronectin_type3,smart_Leu-rich_rpt_typical-subtyp,smart_Cys-rich_flank_reg_C,pfscan_Ig-like	p.W81fs	ENST00000361742.3	37	c.240	CCDS10259.1	15																																																																																			ISLR2	-	smart_Leu-rich_rpt_typical-subtyp	ENSG00000167178		0.617	ISLR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ISLR2	HGNC	protein_coding	OTTHUMT00000269046.1	62	0.00	0	G	NM_020851		74425335	74425335	+1	no_errors	ENST00000361742	ensembl	human	known	69_37n	frame_shift_del	52	30.26	23	DEL	1.000	-
KCNE4	23704	genome.wustl.edu	37	2	223917604	223917604	+	Frame_Shift_Del	DEL	G	G	-			TCGA-A8-A07U-01A-11W-A050-09	TCGA-A8-A07U-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e6409415-8453-489d-a731-49257cade2a3	bd1d1390-403b-4e65-9ecc-430b52d2f8af	g.chr2:223917604delG	ENST00000281830.3	+	2	540	c.209delG	c.(208-210)agcfs	p.S70fs	KCNE4_ENST00000604125.1_Frame_Shift_Del_p.S19fs|KCNE4_ENST00000488477.2_Intron			Q8WWG9	KCNE4_HUMAN	potassium voltage-gated channel, Isk-related family, member 4	70						apical plasma membrane (GO:0016324)|integral component of membrane (GO:0016021)	voltage-gated potassium channel activity (GO:0005249)			large_intestine(2)|lung(5)|ovary(2)|skin(1)	10		Renal(207;0.0183)|Lung NSC(271;0.137)|all_lung(227;0.175)		Epithelial(121;4.48e-11)|all cancers(144;2.88e-08)|Lung(261;0.00688)|LUSC - Lung squamous cell carcinoma(224;0.008)		GCCTCCAGCAGCCCCCTGGAG	0.612																																						dbGAP											0													44.0	43.0	43.0					2																	223917604		2202	4296	6498	-	-	-	SO:0001589	frameshift_variant	0			AY065987	CCDS2456.1, CCDS2456.2	2q36.1	2008-02-05			ENSG00000152049	ENSG00000152049		"""Potassium channels"""	6244	protein-coding gene	gene with protein product		607775				10219239, 12670483	Standard	NM_080671		Approved	MiRP3	uc002vnl.5	Q8WWG9	OTTHUMG00000133161	ENST00000281830.3:c.209delG	2.37:g.223917604delG	ENSP00000281830:p.Ser70fs	Somatic		WXS	Illumina GAIIx	Phase_IV	B7Z275|Q53SM4|Q96CC4	Frame_Shift_Del	DEL	pfam_K_chnl_volt-dep_bsu_KCNE,prints_K_chnl_volt-dep_bsu_KCNE	p.S19fs	ENST00000281830.3	37	c.56		2																																																																																			KCNE4	-	NULL	ENSG00000152049		0.612	KCNE4-001	KNOWN	basic	protein_coding	KCNE4	HGNC	protein_coding	OTTHUMT00000330997.2	19	0.00	0	G	NM_080671		223917604	223917604	+1	no_errors	ENST00000281830	ensembl	human	known	69_37n	frame_shift_del	6	50.00	6	DEL	0.005	-
KCNE4	23704	genome.wustl.edu	37	2	223917614	223917615	+	Frame_Shift_Del	DEL	GT	GT	-			TCGA-A8-A07U-01A-11W-A050-09	TCGA-A8-A07U-10A-01W-A055-09	GT	GT					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e6409415-8453-489d-a731-49257cade2a3	bd1d1390-403b-4e65-9ecc-430b52d2f8af	g.chr2:223917614_223917615delGT	ENST00000281830.3	+	2	550_551	c.219_220delGT	c.(217-222)gagtccfs	p.ES73fs	KCNE4_ENST00000604125.1_Frame_Shift_Del_p.ES22fs|KCNE4_ENST00000488477.2_Intron			Q8WWG9	KCNE4_HUMAN	potassium voltage-gated channel, Isk-related family, member 4	73						apical plasma membrane (GO:0016324)|integral component of membrane (GO:0016021)	voltage-gated potassium channel activity (GO:0005249)			large_intestine(2)|lung(5)|ovary(2)|skin(1)	10		Renal(207;0.0183)|Lung NSC(271;0.137)|all_lung(227;0.175)		Epithelial(121;4.48e-11)|all cancers(144;2.88e-08)|Lung(261;0.00688)|LUSC - Lung squamous cell carcinoma(224;0.008)		GCCCCCTGGAGTCCCGTGCGGC	0.609																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AY065987	CCDS2456.1, CCDS2456.2	2q36.1	2008-02-05			ENSG00000152049	ENSG00000152049		"""Potassium channels"""	6244	protein-coding gene	gene with protein product		607775				10219239, 12670483	Standard	NM_080671		Approved	MiRP3	uc002vnl.5	Q8WWG9	OTTHUMG00000133161	ENST00000281830.3:c.219_220delGT	2.37:g.223917614_223917615delGT	ENSP00000281830:p.Glu73fs	Somatic		WXS	Illumina GAIIx	Phase_IV	B7Z275|Q53SM4|Q96CC4	Frame_Shift_Del	DEL	pfam_K_chnl_volt-dep_bsu_KCNE,prints_K_chnl_volt-dep_bsu_KCNE	p.E22fs	ENST00000281830.3	37	c.66_67		2																																																																																			KCNE4	-	NULL	ENSG00000152049		0.609	KCNE4-001	KNOWN	basic	protein_coding	KCNE4	HGNC	protein_coding	OTTHUMT00000330997.2	19	0.00	0	GT	NM_080671		223917614	223917615	+1	no_errors	ENST00000281830	ensembl	human	known	69_37n	frame_shift_del	8	42.86	6	DEL	0.001:0.003	-
LAMA5	3911	genome.wustl.edu	37	20	60902386	60902387	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A8-A07U-01A-11W-A050-09	TCGA-A8-A07U-10A-01W-A055-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e6409415-8453-489d-a731-49257cade2a3	bd1d1390-403b-4e65-9ecc-430b52d2f8af	g.chr20:60902386_60902387insG	ENST00000252999.3	-	38	5080_5081	c.5014_5015insC	c.(5014-5016)gagfs	p.E1672fs		NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5	1672	Laminin IV type A. {ECO:0000255|PROSITE- ProRule:PRU00458}.				angiogenesis (GO:0001525)|branching involved in salivary gland morphogenesis (GO:0060445)|branching involved in ureteric bud morphogenesis (GO:0001658)|cell differentiation (GO:0030154)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cell recognition (GO:0008037)|cilium assembly (GO:0042384)|cytoskeleton organization (GO:0007010)|embryo development (GO:0009790)|endothelial cell differentiation (GO:0045446)|establishment of protein localization to plasma membrane (GO:0090002)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|focal adhesion assembly (GO:0048041)|hair follicle development (GO:0001942)|integrin-mediated signaling pathway (GO:0007229)|lung development (GO:0030324)|morphogenesis of a polarized epithelium (GO:0001738)|morphogenesis of embryonic epithelium (GO:0016331)|muscle organ development (GO:0007517)|neural crest cell migration (GO:0001755)|odontogenesis of dentin-containing tooth (GO:0042475)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|regulation of embryonic development (GO:0045995)|substrate adhesion-dependent cell spreading (GO:0034446)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-10 complex (GO:0043259)|laminin-11 complex (GO:0043260)|laminin-5 complex (GO:0005610)|nucleus (GO:0005634)	integrin binding (GO:0005178)|structural molecule activity (GO:0005198)			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)			ACGGAGCATCTCCGTCCCTGGC	0.673																																						dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0			AF443072	CCDS33502.1	20q13.2-q13.3	2013-03-01			ENSG00000130702	ENSG00000130702		"""Laminins"""	6485	protein-coding gene	gene with protein product		601033				9271224	Standard	NM_005560		Approved		uc002ycq.3	O15230	OTTHUMG00000032908	ENST00000252999.3:c.5014_5015insC	20.37:g.60902386_60902387insG	ENSP00000252999:p.Glu1672fs	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8TDF8|Q8WZA7|Q9H1P1	Frame_Shift_Ins	INS	pfam_EGF_laminin,pfam_Laminin_I,pfam_Laminin_G,pfam_Laminin_N,pfam_Laminin_II,pfam_Laminin_B_type_IV,superfamily_ConA-like_lec_gl,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,smart_EGF-like,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N,pfscan_TNFR/NGFR_Cys_rich_reg	p.E1672fs	ENST00000252999.3	37	c.5015_5014	CCDS33502.1	20																																																																																			LAMA5	-	pfscan_Laminin_B_type_IV	ENSG00000130702		0.673	LAMA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LAMA5	HGNC	protein_coding	OTTHUMT00000080014.2	11	0.00	0	-	NM_005560		60902386	60902387	-1	no_errors	ENST00000252999	ensembl	human	known	69_37n	frame_shift_ins	6	33.33	3	INS	0.007:0.008	G
LAMA5	3911	genome.wustl.edu	37	20	60902395	60902395	+	Frame_Shift_Del	DEL	G	G	-			TCGA-A8-A07U-01A-11W-A050-09	TCGA-A8-A07U-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e6409415-8453-489d-a731-49257cade2a3	bd1d1390-403b-4e65-9ecc-430b52d2f8af	g.chr20:60902395delG	ENST00000252999.3	-	38	5072	c.5006delC	c.(5005-5007)ccafs	p.P1669fs		NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5	1669	Laminin IV type A. {ECO:0000255|PROSITE- ProRule:PRU00458}.				angiogenesis (GO:0001525)|branching involved in salivary gland morphogenesis (GO:0060445)|branching involved in ureteric bud morphogenesis (GO:0001658)|cell differentiation (GO:0030154)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cell recognition (GO:0008037)|cilium assembly (GO:0042384)|cytoskeleton organization (GO:0007010)|embryo development (GO:0009790)|endothelial cell differentiation (GO:0045446)|establishment of protein localization to plasma membrane (GO:0090002)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|focal adhesion assembly (GO:0048041)|hair follicle development (GO:0001942)|integrin-mediated signaling pathway (GO:0007229)|lung development (GO:0030324)|morphogenesis of a polarized epithelium (GO:0001738)|morphogenesis of embryonic epithelium (GO:0016331)|muscle organ development (GO:0007517)|neural crest cell migration (GO:0001755)|odontogenesis of dentin-containing tooth (GO:0042475)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|regulation of embryonic development (GO:0045995)|substrate adhesion-dependent cell spreading (GO:0034446)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-10 complex (GO:0043259)|laminin-11 complex (GO:0043260)|laminin-5 complex (GO:0005610)|nucleus (GO:0005634)	integrin binding (GO:0005178)|structural molecule activity (GO:0005198)			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)			CTCCGTCCCTGGCTGCCGCTC	0.677																																						dbGAP											0													28.0	26.0	27.0					20																	60902395		2195	4294	6489	-	-	-	SO:0001589	frameshift_variant	0			AF443072	CCDS33502.1	20q13.2-q13.3	2013-03-01			ENSG00000130702	ENSG00000130702		"""Laminins"""	6485	protein-coding gene	gene with protein product		601033				9271224	Standard	NM_005560		Approved		uc002ycq.3	O15230	OTTHUMG00000032908	ENST00000252999.3:c.5006delC	20.37:g.60902395delG	ENSP00000252999:p.Pro1669fs	Somatic		WXS	Illumina GAIIx	Phase_IV	Q8TDF8|Q8WZA7|Q9H1P1	Frame_Shift_Del	DEL	pfam_EGF_laminin,pfam_Laminin_I,pfam_Laminin_G,pfam_Laminin_N,pfam_Laminin_II,pfam_Laminin_B_type_IV,superfamily_ConA-like_lec_gl,superfamily_Galactose-bd-like,smart_Laminin_N,smart_EGF_laminin,smart_EGF-like,smart_Laminin_B_subgr,smart_Laminin_G,pfscan_Laminin_B_type_IV,pfscan_EGF_laminin,pfscan_Laminin_G,pfscan_Laminin_N,pfscan_TNFR/NGFR_Cys_rich_reg	p.P1669fs	ENST00000252999.3	37	c.5006	CCDS33502.1	20																																																																																			LAMA5	-	pfscan_Laminin_B_type_IV	ENSG00000130702		0.677	LAMA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LAMA5	HGNC	protein_coding	OTTHUMT00000080014.2	9	0.00	0	G	NM_005560		60902395	60902395	-1	no_errors	ENST00000252999	ensembl	human	known	69_37n	frame_shift_del	2	60.00	3	DEL	0.000	-
MEFV	4210	genome.wustl.edu	37	16	3293331	3293331	+	Missense_Mutation	SNP	C	C	A			TCGA-A8-A07U-01A-11W-A050-09	TCGA-A8-A07U-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e6409415-8453-489d-a731-49257cade2a3	bd1d1390-403b-4e65-9ecc-430b52d2f8af	g.chr16:3293331C>A	ENST00000219596.1	-	10	2195	c.2156G>T	c.(2155-2157)gGc>gTc	p.G719V	MEFV_ENST00000339854.4_Missense_Mutation_p.G539V|MEFV_ENST00000536379.1_Missense_Mutation_p.G508V|MEFV_ENST00000541159.1_3'UTR	NM_000243.2	NP_000234.1	O15553	MEFV_HUMAN	Mediterranean fever	719	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				inflammatory response (GO:0006954)|innate immune response (GO:0045087)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 beta production (GO:0032691)|negative regulation of interleukin-12 production (GO:0032695)|negative regulation of macrophage inflammatory protein 1 alpha production (GO:0071641)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of cysteine-type endopeptidase activity (GO:2001056)	cell projection (GO:0042995)|cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|nucleus (GO:0005634)	actin binding (GO:0003779)|zinc ion binding (GO:0008270)			NS(2)|biliary_tract(1)|breast(5)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(6)|lung(19)|ovary(3)|prostate(1)|skin(6)	50						CACGAAGATGCCCACACGCTT	0.522																																						dbGAP											0													109.0	107.0	107.0					16																	3293331		2197	4300	6497	-	-	-	SO:0001583	missense	0			AF018080	CCDS10498.1, CCDS55981.1	16p13.3	2014-09-17			ENSG00000103313	ENSG00000103313		"""Tripartite motif containing / Tripartite motif containing"""	6998	protein-coding gene	gene with protein product	"""pyrin"""	608107		MEF		9288094	Standard	NM_000243		Approved	FMF, TRIM20	uc002cun.1	O15553	OTTHUMG00000129324	ENST00000219596.1:c.2156G>T	16.37:g.3293331C>A	ENSP00000219596:p.Gly719Val	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DUC0|F5H0Q3|Q3MJ84|Q96PN4|Q96PN5	Missense_Mutation	SNP	pfam_DAPIN,pfam_SPRY_rcpt,pfam_Znf_B-box,superfamily_ConA-like_lec_gl,superfamily_DEATH-like,smart_Znf_B-box,smart_PRY,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,pfscan_DAPIN,pfscan_Znf_B-box,prints_Butyrophylin	p.G719V	ENST00000219596.1	37	c.2156	CCDS10498.1	16	.	.	.	.	.	.	.	.	.	.	C	17.93	3.508407	0.64410	.	.	ENSG00000103313	ENST00000219596;ENST00000339854;ENST00000536379	D;D;D	0.82893	-1.66;-1.66;-1.66	5.42	5.42	0.78866	Concanavalin A-like lectin/glucanase (1);SPla/RYanodine receptor subgroup (1);Butyrophylin-like (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	0.579845	0.15536	N	0.257234	D	0.92737	0.7691	M	0.89353	3.025	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.93196	0.6587	10	0.87932	D	0	-10.0294	17.0792	0.86594	0.0:1.0:0.0:0.0	.	719	O15553	MEFV_HUMAN	V	719;539;508	ENSP00000219596:G719V;ENSP00000339639:G539V;ENSP00000445079:G508V	ENSP00000219596:G719V	G	-	2	0	MEFV	3233332	1.000000	0.71417	0.967000	0.41034	0.659000	0.38960	5.976000	0.70484	2.689000	0.91719	0.650000	0.86243	GGC	MEFV	-	pfam_SPRY_rcpt,superfamily_ConA-like_lec_gl,smart_SPla/RYanodine_receptor_subgr,pfscan_B30.2/SPRY,prints_Butyrophylin	ENSG00000103313		0.522	MEFV-001	KNOWN	basic|appris_principal|CCDS	protein_coding	MEFV	HGNC	protein_coding	OTTHUMT00000251464.1	80	0.00	0	C	NM_000243		3293331	3293331	-1	no_errors	ENST00000219596	ensembl	human	known	69_37n	missense	79	13.04	12	SNP	1.000	A
MUM1L1	139221	genome.wustl.edu	37	X	105449533	105449535	+	In_Frame_Del	DEL	TCT	TCT	-			TCGA-A8-A07U-01A-11W-A050-09	TCGA-A8-A07U-10A-01W-A055-09	TCT	TCT					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e6409415-8453-489d-a731-49257cade2a3	bd1d1390-403b-4e65-9ecc-430b52d2f8af	g.chrX:105449533_105449535delTCT	ENST00000357175.2	+	4	757_759	c.108_110delTCT	c.(106-111)tctcta>tca	p.L37del	MUM1L1_ENST00000372552.1_In_Frame_Del_p.L37del|MUM1L1_ENST00000337685.2_In_Frame_Del_p.L37del	NM_001171020.1	NP_001164491.1	Q5H9M0	MUML1_HUMAN	melanoma associated antigen (mutated) 1-like 1	37						extracellular vesicular exosome (GO:0070062)				autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(11)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31						AGGCATTTTCTCTAGAAGTTCAA	0.365																																						dbGAP											0																																										-	-	-	SO:0001651	inframe_deletion	0			AK090835	CCDS55469.1	Xq22.3	2008-02-05			ENSG00000157502	ENSG00000157502			26583	protein-coding gene	gene with protein product							Standard	NM_152423		Approved	FLJ33516	uc004emf.2	Q5H9M0	OTTHUMG00000022146	ENST00000357175.2:c.108_110delTCT	X.37:g.105449533_105449535delTCT	ENSP00000349699:p.Leu37del	Somatic		WXS	Illumina GAIIx	Phase_IV	D3DUX2|Q49AS5|Q8N2C0|Q96MT6	In_Frame_Del	DEL	superfamily_PyrdxlP-dep_Trfase_major_dom	p.L37in_frame_del	ENST00000357175.2	37	c.108_110	CCDS55469.1	X																																																																																			MUM1L1	-	NULL	ENSG00000157502		0.365	MUM1L1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	MUM1L1	HGNC	protein_coding	OTTHUMT00000057795.1	63	0.00	0	TCT	NM_152423		105449533	105449535	+1	no_errors	ENST00000337685	ensembl	human	known	69_37n	in_frame_del	49	64.75	90	DEL	0.001:0.047:0.086	-
NUP210	23225	genome.wustl.edu	37	3	13364912	13364912	+	Silent	SNP	C	C	T			TCGA-A8-A07U-01A-11W-A050-09	TCGA-A8-A07U-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e6409415-8453-489d-a731-49257cade2a3	bd1d1390-403b-4e65-9ecc-430b52d2f8af	g.chr3:13364912C>T	ENST00000254508.5	-	34	4747	c.4665G>A	c.(4663-4665)caG>caA	p.Q1555Q		NM_024923.2	NP_079199.2	Q8TEM1	PO210_HUMAN	nucleoporin 210kDa	1555					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)				NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|ovary(7)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	66	all_neural(104;0.187)					CCATGATCCTCTGAGGGACGC	0.602																																						dbGAP											0													102.0	99.0	100.0					3																	13364912		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AB020713	CCDS33704.1	3p25	2008-02-05			ENSG00000132182	ENSG00000132182			30052	protein-coding gene	gene with protein product		607703				2184032, 7504063	Standard	NM_024923		Approved	GP210, POM210, FLJ22389, KIAA0906	uc003bxv.1	Q8TEM1	OTTHUMG00000157268	ENST00000254508.5:c.4665G>A	3.37:g.13364912C>T		Somatic		WXS	Illumina GAIIx	Phase_IV	A6NN56|O94980|Q6NXG6|Q8NBJ1|Q9H6C8|Q9UFP3	Silent	SNP	pfam_Big_2,superfamily_Invasin/intimin_cell_adhesion,superfamily_Cadherin-like,smart_Big_2	p.Q1555	ENST00000254508.5	37	c.4665	CCDS33704.1	3																																																																																			NUP210	-	NULL	ENSG00000132182		0.602	NUP210-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	NUP210	HGNC	protein_coding	OTTHUMT00000340085.1	124	0.00	0	C	NM_024923		13364912	13364912	-1	no_errors	ENST00000254508	ensembl	human	known	69_37n	silent	97	12.61	14	SNP	0.944	T
PCDHB10	56126	genome.wustl.edu	37	5	140574447	140574447	+	Silent	SNP	G	G	A			TCGA-A8-A07U-01A-11W-A050-09	TCGA-A8-A07U-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e6409415-8453-489d-a731-49257cade2a3	bd1d1390-403b-4e65-9ecc-430b52d2f8af	g.chr5:140574447G>A	ENST00000239446.4	+	1	2506	c.2322G>A	c.(2320-2322)tcG>tcA	p.S774S		NM_018930.3	NP_061753.1	Q9UN67	PCDBA_HUMAN	protocadherin beta 10	774					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(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(14)|lung(30)|ovary(4)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	76			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CAGTTATTTCGGATATTCAGG	0.483																																						dbGAP											0													58.0	66.0	63.0					5																	140574447		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF152489	CCDS4252.1	5q31.3	2010-06-15			ENSG00000120324	ENSG00000120324		"""Cadherins / Protocadherins : Clustered"""	8681	other	protocadherin		606336				10380929	Standard	NM_018930		Approved		uc003lix.3	Q9UN67	OTTHUMG00000129626	ENST00000239446.4:c.2322G>A	5.37:g.140574447G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q96T99	Silent	SNP	pfam_Cadherin,pfam_Cadherin_N,superfamily_Cadherin-like,smart_Cadherin,pfscan_Cadherin,prints_Cadherin	p.S774	ENST00000239446.4	37	c.2322	CCDS4252.1	5																																																																																			PCDHB10	-	NULL	ENSG00000120324		0.483	PCDHB10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PCDHB10	HGNC	protein_coding	OTTHUMT00000251821.1	74	0.00	0	G	NM_018930		140574447	140574447	+1	no_errors	ENST00000239446	ensembl	human	known	69_37n	silent	48	15.52	9	SNP	0.000	A
PGF	5228	genome.wustl.edu	37	14	75421872	75421873	+	Splice_Site	INS	-	-	G			TCGA-A8-A07U-01A-11W-A050-09	TCGA-A8-A07U-10A-01W-A055-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e6409415-8453-489d-a731-49257cade2a3	bd1d1390-403b-4e65-9ecc-430b52d2f8af	g.chr14:75421872_75421873insG	ENST00000405431.2	-	1	72_73	c.73_74insC	c.(73-75)cag>cCag	p.Q25fs	PGF_ENST00000553716.1_Splice_Site_p.Q25fs|PGF_ENST00000555567.1_Splice_Site_p.Q25fs|PGF_ENST00000238607.6_Splice_Site_p.Q25fs			P49763	PLGF_HUMAN	placental growth factor	25					branching involved in ureteric bud morphogenesis (GO:0001658)|cell differentiation (GO:0030154)|cell-cell signaling (GO:0007267)|cellular response to hormone stimulus (GO:0032870)|female pregnancy (GO:0007565)|organ regeneration (GO:0031100)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of endothelial cell proliferation (GO:0001938)|regulation of morphogenesis of a branching structure (GO:0060688)|response to drug (GO:0042493)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|sprouting angiogenesis (GO:0002040)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)	growth factor activity (GO:0008083)|heparin binding (GO:0008201)			kidney(1)|large_intestine(3)|lung(3)|ovary(1)	8				BRCA - Breast invasive adenocarcinoma(234;0.00668)	Aflibercept(DB08885)	AGCTCTTACCTGGGGGGGCACA	0.649																																					GBM(127;389 2301 5452 48547)	dbGAP											0																																										-	-	-	SO:0001630	splice_region_variant	0			S72960	CCDS9835.1, CCDS55932.1, CCDS73664.1	14q24.3	2013-02-18	2008-03-20		ENSG00000119630	ENSG00000119630			8893	protein-coding gene	gene with protein product	"""placenta growth factor"""	601121	"""placental growth factor-like"", ""placental growth factor, vascular endothelial growth factor-related protein"""	PGFL		7681160	Standard	NM_002632		Approved	PLGF, PlGF-2, PlGF, SHGC-10760, D12S1900	uc001xqz.3	P49763	OTTHUMG00000171496	ENST00000405431.2:c.75+1->C	14.37:g.75421879_75421879dupG		Somatic		WXS	Illumina GAIIx	Phase_IV	Q07101|Q9BV78|Q9Y6S8	Frame_Shift_Ins	INS	pfam_PD_growth_factor,smart_PD_growth_factor,pfscan_PD_growth_factor	p.Q25fs	ENST00000405431.2	37	c.74_73	CCDS9835.1	14																																																																																			PGF	-	NULL	ENSG00000119630		0.649	PGF-008	KNOWN	basic|CCDS	protein_coding	PGF	HGNC	protein_coding	OTTHUMT00000414064.1	20	0.00	0	-	NM_002632	Frame_Shift_Ins	75421872	75421873	-1	no_errors	ENST00000405431	ensembl	human	known	69_37n	frame_shift_ins	19	13.64	3	INS	0.671:0.473	G
POC1B	282809	genome.wustl.edu	37	12	89818991	89818991	+	Missense_Mutation	SNP	C	C	A			TCGA-A8-A07U-01A-11W-A050-09	TCGA-A8-A07U-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e6409415-8453-489d-a731-49257cade2a3	bd1d1390-403b-4e65-9ecc-430b52d2f8af	g.chr12:89818991C>A	ENST00000313546.3	-	11	1407	c.1279G>T	c.(1279-1281)Gct>Tct	p.A427S	POC1B_ENST00000541909.1_3'UTR|POC1B_ENST00000549035.1_Missense_Mutation_p.A385S|POC1B_ENST00000546740.1_5'UTR|POC1B_ENST00000378528.2_3'UTR|POC1B_ENST00000393179.4_Missense_Mutation_p.A297S	NM_172240.2	NP_758440.1	Q8TC44	POC1B_HUMAN	POC1 centriolar protein B	427					cell proliferation (GO:0008283)|cilium assembly (GO:0042384)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|spindle pole (GO:0000922)				endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|urinary_tract(1)	14						TCAGTCACAGCGAGAGGTATG	0.443																																						dbGAP											0													256.0	198.0	218.0					12																	89818991		2203	4300	6503	-	-	-	SO:0001583	missense	0			AL832918	CCDS31869.1, CCDS55859.1	12q21.33	2014-05-02	2013-08-21	2010-03-26	ENSG00000139323	ENSG00000139323		"""WD repeat domain containing"""	30836	protein-coding gene	gene with protein product		614784	"""WD repeat domain 51B"", ""POC1 centriolar protein homolog B (Chlamydomonas)"""	WDR51B		19109428	Standard	NM_172240		Approved	TUWD12, FLJ14923		Q8TC44	OTTHUMG00000169944	ENST00000313546.3:c.1279G>T	12.37:g.89818991C>A	ENSP00000323302:p.Ala427Ser	Somatic		WXS	Illumina GAIIx	Phase_IV	G3V1X0	Missense_Mutation	SNP	pfam_WD40_repeat,pfam_TIF2A_beta_prop-like,superfamily_WD40_repeat_dom,smart_WD40_repeat,prints_G-protein_beta_WD-40_rep,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.A427S	ENST00000313546.3	37	c.1279	CCDS31869.1	12	.	.	.	.	.	.	.	.	.	.	C	7.200	0.593326	0.13875	.	.	ENSG00000139323	ENST00000393179;ENST00000313546;ENST00000549035	T;T;T	0.47177	0.85;0.85;0.85	5.8	5.8	0.92144	.	0.470695	0.23686	N	0.045563	T	0.34337	0.0894	L	0.35414	1.06	0.80722	D	1	B	0.31383	0.321	B	0.24848	0.056	T	0.13150	-1.0520	10	0.10111	T	0.7	.	15.5467	0.76108	0.0:1.0:0.0:0.0	.	427	Q8TC44	POC1B_HUMAN	S	297;427;385	ENSP00000376877:A297S;ENSP00000323302:A427S;ENSP00000447916:A385S	ENSP00000323302:A427S	A	-	1	0	POC1B	88343122	0.784000	0.28713	0.234000	0.24042	0.075000	0.17131	2.024000	0.41049	2.729000	0.93468	0.563000	0.77884	GCT	POC1B	-	NULL	ENSG00000139323		0.443	POC1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	POC1B	HGNC	protein_coding	OTTHUMT00000406637.1	286	0.00	0	C	NM_172240		89818991	89818991	-1	no_errors	ENST00000313546	ensembl	human	known	69_37n	missense	258	15.58	48	SNP	0.529	A
PPARD	5467	genome.wustl.edu	37	6	35392419	35392419	+	Missense_Mutation	SNP	G	G	A			TCGA-A8-A07U-01A-11W-A050-09	TCGA-A8-A07U-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e6409415-8453-489d-a731-49257cade2a3	bd1d1390-403b-4e65-9ecc-430b52d2f8af	g.chr6:35392419G>A	ENST00000311565.4	+	8	1290	c.941G>A	c.(940-942)cGt>cAt	p.R314H	PPARD_ENST00000444397.1_Missense_Mutation_p.R314H|PPARD_ENST00000448077.2_Missense_Mutation_p.R275H|PPARD_ENST00000418635.2_Missense_Mutation_p.R216H|PPARD_ENST00000540939.1_Missense_Mutation_p.R211H|PPARD_ENST00000360694.3_Missense_Mutation_p.R314H|PPARD_ENST00000337400.2_Missense_Mutation_p.R314H	NM_001171818.1	NP_001165289.1	Q03181	PPARD_HUMAN	peroxisome proliferator-activated receptor delta	314	Ligand-binding.				adipose tissue development (GO:0060612)|anagen (GO:0042640)|apoptotic signaling pathway (GO:0097190)|axon ensheathment (GO:0008366)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cell-substrate adhesion (GO:0031589)|cellular response to hypoxia (GO:0071456)|cholesterol metabolic process (GO:0008203)|decidualization (GO:0046697)|embryo implantation (GO:0007566)|fatty acid beta-oxidation (GO:0006635)|fatty acid catabolic process (GO:0009062)|fatty acid transport (GO:0015908)|gene expression (GO:0010467)|generation of precursor metabolites and energy (GO:0006091)|glucose metabolic process (GO:0006006)|glucose transport (GO:0015758)|heart development (GO:0007507)|intracellular receptor signaling pathway (GO:0030522)|keratinocyte migration (GO:0051546)|keratinocyte proliferation (GO:0043616)|lipid metabolic process (GO:0006629)|mRNA transcription (GO:0009299)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of collagen biosynthetic process (GO:0032966)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of inflammatory response (GO:0050728)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of smooth muscle cell proliferation (GO:0048662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|phospholipid biosynthetic process (GO:0008654)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epidermis development (GO:0045684)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of insulin secretion (GO:0032024)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of vasodilation (GO:0045909)|proteoglycan metabolic process (GO:0006029)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to activity (GO:0014823)|response to glucose (GO:0009749)|response to vitamin A (GO:0033189)|transcription initiation from RNA polymerase II promoter (GO:0006367)|vitamin A metabolic process (GO:0006776)|wound healing (GO:0042060)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|drug binding (GO:0008144)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|linoleic acid binding (GO:0070539)|lipid binding (GO:0008289)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(1)|endometrium(1)|large_intestine(4)|liver(2)|lung(9)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	23					Bezafibrate(DB01393)|Icosapent(DB00159)|Sulindac(DB00605)|Treprostinil(DB00374)	TTTGTCACCCGTGAGTTCCTG	0.537																																						dbGAP											0													65.0	58.0	61.0					6																	35392419		2203	4300	6503	-	-	-	SO:0001583	missense	0			L07592	CCDS4803.1, CCDS4804.1, CCDS54994.1, CCDS54995.1	6p21.2	2013-01-16	2006-10-17		ENSG00000112033	ENSG00000112033		"""Nuclear hormone receptors"""	9235	protein-coding gene	gene with protein product		600409	"""peroxisome proliferative activated receptor, delta"""			1333051	Standard	NM_177435		Approved	NUC1, NUCII, FAAR, NR1C2	uc003okm.3	Q03181	OTTHUMG00000014567	ENST00000311565.4:c.941G>A	6.37:g.35392419G>A	ENSP00000310928:p.Arg314His	Somatic		WXS	Illumina GAIIx	Phase_IV	A8K6J6|B4E3V3|B6ZGS1|B7Z3W1|E9PE18|Q5D1P0|Q7Z5K0|Q9BUD4	Missense_Mutation	SNP	pfam_Znf_hrmn_rcpt,pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Znf_hrmn_rcpt,smart_Nucl_hrmn_rcpt_lig-bd_core,pfscan_Znf_hrmn_rcpt,prints_1Cnucl_rcpt,prints_Str_hrmn_rcpt,prints_1Cnucl_rcpt_B,prints_Znf_hrmn_rcpt,prints_1Cnucl_rcpt_A	p.R314H	ENST00000311565.4	37	c.941	CCDS4803.1	6	.	.	.	.	.	.	.	.	.	.	G	17.92	3.506012	0.64410	.	.	ENSG00000112033	ENST00000448077;ENST00000360694;ENST00000418635;ENST00000444397;ENST00000311565;ENST00000337400;ENST00000540939	D;D;D;D;D;D;D	0.96802	-4.13;-4.13;-4.13;-4.13;-4.13;-4.13;-4.13	5.72	4.8	0.61643	Nuclear hormone receptor, ligand-binding (2);Nuclear hormone receptor, ligand-binding, core (2);	0.048893	0.85682	N	0.000000	D	0.96081	0.8723	H	0.94385	3.53	0.58432	D	0.999999	P;B;P;B	0.45768	0.866;0.423;0.512;0.109	B;B;B;B	0.42798	0.398;0.104;0.104;0.022	D	0.95682	0.8733	10	0.66056	D	0.02	.	10.9141	0.47126	0.098:0.0:0.902:0.0	.	216;275;314;314	E9PE18;B7Z3W1;Q03181;F1D8S7	.;.;PPARD_HUMAN;.	H	275;314;216;314;314;314;211	ENSP00000414372:R275H;ENSP00000353916:R314H;ENSP00000413314:R216H;ENSP00000410837:R314H;ENSP00000310928:R314H;ENSP00000337063:R314H;ENSP00000443759:R211H	ENSP00000310928:R314H	R	+	2	0	PPARD	35500397	1.000000	0.71417	0.878000	0.34440	0.932000	0.56968	7.954000	0.87848	1.298000	0.44778	0.655000	0.94253	CGT	PPARD	-	pfam_Nucl_hrmn_rcpt_lig-bd_core,superfamily_Nucl_hormone_rcpt_ligand-bd,smart_Nucl_hrmn_rcpt_lig-bd_core,prints_1Cnucl_rcpt	ENSG00000112033		0.537	PPARD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	PPARD	HGNC	protein_coding	OTTHUMT00000040288.1	92	0.00	0	G	NM_006238		35392419	35392419	+1	no_errors	ENST00000311565	ensembl	human	known	69_37n	missense	66	20.48	17	SNP	1.000	A
PSTK	118672	genome.wustl.edu	37	10	124745960	124745961	+	Intron	INS	-	-	C			TCGA-A8-A07U-01A-11W-A050-09	TCGA-A8-A07U-10A-01W-A055-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e6409415-8453-489d-a731-49257cade2a3	bd1d1390-403b-4e65-9ecc-430b52d2f8af	g.chr10:124745960_124745961insC	ENST00000368887.3	+	4	1223				PSTK_ENST00000497219.1_Intron|PSTK_ENST00000405485.1_Frame_Shift_Ins_p.N285fs	NM_153336.2	NP_699167.2	Q8IV42	PSTK_HUMAN	phosphoseryl-tRNA kinase						selenocysteine incorporation (GO:0001514)|selenocysteinyl-tRNA(Sec) biosynthetic process (GO:0097056)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|kinase activity (GO:0016301)|tRNA binding (GO:0000049)			endometrium(1)|kidney(1)|large_intestine(2)|liver(1)|lung(5)|skin(1)|stomach(2)	13		all_neural(114;0.169)|Glioma(114;0.222)		Colorectal(40;0.0686)|COAD - Colon adenocarcinoma(40;0.0725)		CTTTTGAGCCGAATATAAAATG	0.421																																						dbGAP											0																																										-	-	-	SO:0001627	intron_variant	0			AK127173	CCDS7633.1	10q26.13	2007-04-17	2007-04-17	2007-04-17	ENSG00000179988	ENSG00000179988			28578	protein-coding gene	gene with protein product		611310	"""chromosome 10 open reading frame 89"""	C10orf89		15317934	Standard	NM_153336		Approved	MGC35392	uc001lgy.1	Q8IV42	OTTHUMG00000019191	ENST00000368887.3:c.783+69->C	10.37:g.124745960_124745961insC		Somatic		WXS	Illumina GAIIx	Phase_IV	Q6ZSS9	Frame_Shift_Ins	INS	pfam_Chromatin_KTI12,tigrfam_L-seryl-tRNA_Sec_kinase_euk	p.N284fs	ENST00000368887.3	37	c.852_853	CCDS7633.1	10																																																																																			PSTK	-	NULL	ENSG00000179988		0.421	PSTK-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	PSTK	HGNC	protein_coding	OTTHUMT00000050811.1	34	0.00	0	-	NM_153336		124745960	124745961	+1	no_errors	ENST00000405485	ensembl	human	known	69_37n	frame_shift_ins	38	20.83	10	INS	0.000:0.000	C
PTPN12	5782	genome.wustl.edu	37	7	77210798	77210798	+	Missense_Mutation	SNP	A	A	T			TCGA-A8-A07U-01A-11W-A050-09	TCGA-A8-A07U-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e6409415-8453-489d-a731-49257cade2a3	bd1d1390-403b-4e65-9ecc-430b52d2f8af	g.chr7:77210798A>T	ENST00000248594.6	+	3	535	c.263A>T	c.(262-264)tAt>tTt	p.Y88F	PTPN12_ENST00000415482.2_5'UTR|PTPN12_ENST00000435495.2_5'UTR	NM_002835.3	NP_002826.3	Q05209	PTN12_HUMAN	protein tyrosine phosphatase, non-receptor type 12	88	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.				protein dephosphorylation (GO:0006470)|tissue regeneration (GO:0042246)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)|podosome (GO:0002102)	non-membrane spanning protein tyrosine phosphatase activity (GO:0004726)|SH3 domain binding (GO:0017124)			breast(2)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(12)|lung(7)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|urinary_tract(1)	39						GATTCAGACTATATCAATGCA	0.294																																						dbGAP											0													64.0	65.0	65.0					7																	77210798		2199	4297	6496	-	-	-	SO:0001583	missense	0				CCDS5592.1, CCDS47619.1, CCDS47620.1	7q11.23	2011-06-09			ENSG00000127947	ENSG00000127947		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9645	protein-coding gene	gene with protein product		600079				7509295	Standard	NM_002835		Approved	PTPG1, PTP-PEST	uc003ugh.2	Q05209	OTTHUMG00000023501	ENST00000248594.6:c.263A>T	7.37:g.77210798A>T	ENSP00000248594:p.Tyr88Phe	Somatic		WXS	Illumina GAIIx	Phase_IV	A4D1C5|B4DKY2|E9PBR5|E9PEH9|Q16130|Q59FD6|Q75MN8|Q86XU4	Missense_Mutation	SNP	pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_cat,pirsf_Tyr_Pase_non-rcpt_typ-12,pfscan_Tyr/Dual-specificity_Pase,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt	p.Y88F	ENST00000248594.6	37	c.263	CCDS5592.1	7	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.2|24.2	4.501213|4.501213	0.85176|0.85176	.|.	.|.	ENSG00000127947|ENSG00000127947	ENST00000522115|ENST00000248594	.|T	.|0.34667	.|1.35	5.84|5.84	4.68|4.68	0.58851|0.58851	.|Protein-tyrosine phosphatase, receptor/non-receptor type (4);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.68210|0.68210	0.2976|0.2976	M|M	0.93283|0.93283	3.4|3.4	0.80722|0.80722	D|D	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.97110	.|1.0	T|T	0.75895|0.75895	-0.3156|-0.3156	5|10	.|0.87932	.|D	.|0	.|.	12.4452|12.4452	0.55647|0.55647	0.8743:0.0:0.0:0.1257|0.8743:0.0:0.0:0.1257	.|.	.|88	.|Q05209	.|PTN12_HUMAN	L|F	51|88	.|ENSP00000248594:Y88F	.|ENSP00000248594:Y88F	I|Y	+|+	1|2	0|0	PTPN12|PTPN12	77048734|77048734	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	7.468000|7.468000	0.80943|0.80943	1.008000|1.008000	0.39264|0.39264	0.482000|0.482000	0.46254|0.46254	ATA|TAT	PTPN12	-	pfam_Tyr_Pase_rcpt/non-rcpt,smart_Tyr_Pase_rcpt/non-rcpt,pirsf_Tyr_Pase_non-rcpt_typ-12,pfscan_Tyr_Pase_rcpt/non-rcpt,prints_Tyr_Pase_rcpt/non-rcpt	ENSG00000127947		0.294	PTPN12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTPN12	HGNC	protein_coding	OTTHUMT00000253183.3	88	0.00	0	A			77210798	77210798	+1	no_errors	ENST00000248594	ensembl	human	known	69_37n	missense	86	16.35	17	SNP	1.000	T
SKA3	221150	genome.wustl.edu	37	13	21742333	21742333	+	Silent	SNP	C	C	A			TCGA-A8-A07U-01A-11W-A050-09	TCGA-A8-A07U-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e6409415-8453-489d-a731-49257cade2a3	bd1d1390-403b-4e65-9ecc-430b52d2f8af	g.chr13:21742333C>A	ENST00000314759.5	-	4	661	c.537G>T	c.(535-537)gtG>gtT	p.V179V	SKA3_ENST00000400018.3_Silent_p.V179V	NM_145061.5	NP_659498.4	Q8IX90	SKA3_HUMAN	spindle and kinetochore associated complex subunit 3	179					chromosome segregation (GO:0007059)|mitotic nuclear division (GO:0007067)|regulation of microtubule polymerization or depolymerization (GO:0031110)	condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|spindle microtubule (GO:0005876)				breast(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	19						TATAGTTGTTCACTGCCTGTG	0.408																																						dbGAP											0													182.0	190.0	187.0					13																	21742333		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF361358	CCDS31946.1, CCDS53856.1	13q11	2013-01-17	2009-08-19	2009-08-19	ENSG00000165480	ENSG00000165480			20262	protein-coding gene	gene with protein product			"""chromosome 13 open reading frame 3"""	C13orf3		19387489, 19289083, 19646878, 19360002	Standard	NM_145061		Approved	MGC4832, RAMA1	uc001unt.3	Q8IX90	OTTHUMG00000016539	ENST00000314759.5:c.537G>T	13.37:g.21742333C>A		Somatic		WXS	Illumina GAIIx	Phase_IV	A2A330|A2A331|B2RBY2|Q5VZV5|Q86WR2|Q8NBG1|Q96D22	Silent	SNP	NULL	p.V179	ENST00000314759.5	37	c.537	CCDS31946.1	13																																																																																			SKA3	-	NULL	ENSG00000165480		0.408	SKA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	SKA3	HGNC	protein_coding	OTTHUMT00000272912.1	105	0.00	0	C	NM_145061		21742333	21742333	-1	no_errors	ENST00000314759	ensembl	human	known	69_37n	silent	133	11.33	17	SNP	0.000	A
SLC1A6	6511	genome.wustl.edu	37	19	15061145	15061145	+	Silent	SNP	G	G	A			TCGA-A8-A07U-01A-11W-A050-09	TCGA-A8-A07U-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e6409415-8453-489d-a731-49257cade2a3	bd1d1390-403b-4e65-9ecc-430b52d2f8af	g.chr19:15061145G>A	ENST00000221742.3	-	9	1564	c.1557C>T	c.(1555-1557)atC>atT	p.I519I	SLC1A6_ENST00000600144.1_Silent_p.I441I|SLC1A6_ENST00000430939.2_Silent_p.I455I	NM_005071.1	NP_005062.1	P48664	EAA4_HUMAN	solute carrier family 1 (high affinity aspartate/glutamate transporter), member 6	519					aspartate transport (GO:0015810)|ion transport (GO:0006811)|L-glutamate transport (GO:0015813)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)	Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	L-aspartate transmembrane transporter activity (GO:0015183)|L-glutamate transmembrane transporter activity (GO:0005313)|sodium:dicarboxylate symporter activity (GO:0017153)			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(8)|liver(1)|lung(12)|ovary(3)|pancreas(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	42						ACAAGTGCTCGATGACGGCCG	0.582																																						dbGAP											0													60.0	57.0	58.0					19																	15061145		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS12321.1, CCDS62578.1	19p13.12	2013-07-15			ENSG00000105143	ENSG00000105143		"""Solute carriers"""	10944	protein-coding gene	gene with protein product		600637				7791878	Standard	NM_005071		Approved	EAAT4	uc002naa.2	P48664	OTTHUMG00000183351	ENST00000221742.3:c.1557C>T	19.37:g.15061145G>A		Somatic		WXS	Illumina GAIIx	Phase_IV	Q8N753	Silent	SNP	pfam_Na-dicarboxylate_symporter,prints_Na-dicarboxylate_symporter	p.I519	ENST00000221742.3	37	c.1557	CCDS12321.1	19																																																																																			SLC1A6	-	pfam_Na-dicarboxylate_symporter	ENSG00000105143		0.582	SLC1A6-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	SLC1A6	HGNC	protein_coding	OTTHUMT00000466283.1	49	0.00	0	G	NM_005071		15061145	15061145	-1	no_errors	ENST00000221742	ensembl	human	known	69_37n	silent	36	21.74	10	SNP	0.965	A
SLC5A5	6528	genome.wustl.edu	37	19	17986885	17986886	+	Frame_Shift_Ins	INS	-	-	T			TCGA-A8-A07U-01A-11W-A050-09	TCGA-A8-A07U-10A-01W-A055-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e6409415-8453-489d-a731-49257cade2a3	bd1d1390-403b-4e65-9ecc-430b52d2f8af	g.chr19:17986885_17986886insT	ENST00000222248.3	+	5	1015_1016	c.668_669insT	c.(667-672)gcccagfs	p.Q224fs		NM_000453.2	NP_000444.1	Q92911	SC5A5_HUMAN	solute carrier family 5 (sodium/iodide cotransporter), member 5	224					cellular nitrogen compound metabolic process (GO:0034641)|cellular response to cAMP (GO:0071320)|cellular response to gonadotropin stimulus (GO:0071371)|iodide transport (GO:0015705)|ion transport (GO:0006811)|small molecule metabolic process (GO:0044281)|thyroid hormone generation (GO:0006590)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	iodide transmembrane transporter activity (GO:0015111)|sodium:iodide symporter activity (GO:0008507)			NS(2)|biliary_tract(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(6)|lung(13)|ovary(1)|prostate(1)|skin(3)	31						CTCACGCTGGCCCAGAACCACT	0.599																																					Melanoma(65;1008 1708 7910 46650)	dbGAP											0																																										-	-	-	SO:0001589	frameshift_variant	0				CCDS12368.1	19p13.11	2013-07-19	2013-07-19		ENSG00000105641	ENSG00000105641		"""Solute carriers"""	11040	protein-coding gene	gene with protein product		601843	"""solute carrier family 5 (sodium iodide symporter), member 5"""			9231811	Standard	NM_000453		Approved	NIS	uc002nhr.4	Q92911		Exception_encountered	19.37:g.17986885_17986886insT	ENSP00000222248:p.Gln224fs	Somatic		WXS	Illumina GAIIx	Phase_IV	O43702|Q2M335|Q9NYB6	Frame_Shift_Ins	INS	pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr	p.Q224fs	ENST00000222248.3	37	c.668_669	CCDS12368.1	19																																																																																			SLC5A5	-	pfam_Na/solute_symporter,pfscan_Na/solute_symporter,tigrfam_Na/solute_symporter_subgr	ENSG00000105641		0.599	SLC5A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	SLC5A5	HGNC	protein_coding	OTTHUMT00000466690.1	93	0.00	0	-			17986885	17986886	+1	no_errors	ENST00000222248	ensembl	human	known	69_37n	frame_shift_ins	94	25.98	33	INS	1.000:0.997	T
TBC1D10B	26000	genome.wustl.edu	37	16	30380863	30380863	+	Silent	SNP	T	T	G			TCGA-A8-A07U-01A-11W-A050-09	TCGA-A8-A07U-10A-01W-A055-09	T	T					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e6409415-8453-489d-a731-49257cade2a3	bd1d1390-403b-4e65-9ecc-430b52d2f8af	g.chr16:30380863T>G	ENST00000409939.3	-	1	722	c.642A>C	c.(640-642)tcA>tcC	p.S214S		NM_015527.3	NP_056342.3	Q4KMP7	TB10B_HUMAN	TBC1 domain family, member 10B	214					positive regulation of Rab GTPase activity (GO:0032851)|regulation of Rab GTPase activity (GO:0032313)|retrograde transport, endosome to Golgi (GO:0042147)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	Rab GTPase activator activity (GO:0005097)			endometrium(2)|kidney(1)|lung(2)|urinary_tract(1)	6			Colorectal(24;0.193)			TGCCAGGGCCTGAGGGGTCCT	0.627																																						dbGAP											0													24.0	28.0	27.0					16																	30380863		692	1591	2283	-	-	-	SO:0001819	synonymous_variant	0			BC063112	CCDS10676.2	16p11.2	2013-07-09			ENSG00000169221	ENSG00000169221			24510	protein-coding gene	gene with protein product		613620				20404108	Standard	NM_015527		Approved	DKFZP434P1750, Rab27A-GAPbeta, FLJ13130, EPI64B	uc002dxt.3	Q4KMP7	OTTHUMG00000132396	ENST00000409939.3:c.642A>C	16.37:g.30380863T>G		Somatic		WXS	Illumina GAIIx	Phase_IV	B9A6L0|Q6IN54|Q6P530|Q71RG7|Q86VC5|Q9H8Z2|Q9NUN6|Q9UFP2	Silent	SNP	pfam_Rab-GTPase-TBC_dom,superfamily_Rab-GTPase-TBC_dom,smart_Rab-GTPase-TBC_dom,pfscan_Rab-GTPase-TBC_dom	p.S214	ENST00000409939.3	37	c.642	CCDS10676.2	16																																																																																			TBC1D10B	-	NULL	ENSG00000169221		0.627	TBC1D10B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TBC1D10B	HGNC	protein_coding	OTTHUMT00000255527.3	33	0.00	0	T	NM_015527		30380863	30380863	-1	no_errors	ENST00000409939	ensembl	human	known	69_37n	silent	29	28.57	12	SNP	0.001	G
TEX264	51368	genome.wustl.edu	37	3	51737809	51737809	+	Missense_Mutation	SNP	C	C	T			TCGA-A8-A07U-01A-11W-A050-09	TCGA-A8-A07U-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e6409415-8453-489d-a731-49257cade2a3	bd1d1390-403b-4e65-9ecc-430b52d2f8af	g.chr3:51737809C>T	ENST00000415259.1	+	5	1800	c.719C>T	c.(718-720)gCt>gTt	p.A240V	TEX264_ENST00000457573.1_Missense_Mutation_p.A240V|TEX264_ENST00000416589.1_Missense_Mutation_p.A240V|TEX264_ENST00000463857.1_3'UTR|TEX264_ENST00000341333.5_Missense_Mutation_p.A240V|TEX264_ENST00000395057.1_Missense_Mutation_p.A240V			Q9Y6I9	TX264_HUMAN	testis expressed 264	240						extracellular vesicular exosome (GO:0070062)				NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)	7				BRCA - Breast invasive adenocarcinoma(193;8.53e-05)|Kidney(197;0.000594)|KIRC - Kidney renal clear cell carcinoma(197;0.000759)		GAGACTTCAGCTGCCACACTG	0.597																																						dbGAP											0													67.0	80.0	76.0					3																	51737809		2203	4300	6503	-	-	-	SO:0001583	missense	0			AF072733	CCDS2833.1, CCDS74945.1	3p21	2007-03-13	2007-03-13		ENSG00000164081	ENSG00000164081			30247	protein-coding gene	gene with protein product			"""testis expressed gene 264"", ""testis expressed sequence 264"""			12975309	Standard	NM_001243725		Approved	ZSIG11, FLJ13935	uc003dbm.4	Q9Y6I9	OTTHUMG00000156901	ENST00000415259.1:c.719C>T	3.37:g.51737809C>T	ENSP00000396628:p.Ala240Val	Somatic		WXS	Illumina GAIIx	Phase_IV	B3KN87|Q9UKD7	Missense_Mutation	SNP	superfamily_Reg_factor_effector_bac	p.A240V	ENST00000415259.1	37	c.719	CCDS2833.1	3	.	.	.	.	.	.	.	.	.	.	C	4.244	0.044297	0.08196	.	.	ENSG00000164081	ENST00000457573;ENST00000341333;ENST00000415259;ENST00000395057;ENST00000416589	T;T;T;T;T	0.44482	0.92;0.92;0.92;0.92;0.92	4.06	2.21	0.28008	.	0.677071	0.14627	N	0.308063	T	0.27900	0.0687	L	0.31294	0.92	0.23401	N	0.997752	B;B	0.09022	0.002;0.002	B;B	0.06405	0.002;0.002	T	0.19095	-1.0316	10	0.25106	T	0.35	-9.5179	8.5317	0.33337	0.0:0.765:0.0:0.235	.	240;240	Q53GI2;Q9Y6I9	.;TX264_HUMAN	V	240	ENSP00000408186:A240V;ENSP00000340969:A240V;ENSP00000396628:A240V;ENSP00000378497:A240V;ENSP00000398802:A240V	ENSP00000340969:A240V	A	+	2	0	TEX264	51712849	0.985000	0.35326	0.225000	0.23894	0.204000	0.24138	2.111000	0.41883	0.287000	0.22375	-0.959000	0.02639	GCT	TEX264	-	NULL	ENSG00000164081		0.597	TEX264-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	TEX264	HGNC	protein_coding	OTTHUMT00000346530.1	41	0.00	0	C	NM_015926		51737809	51737809	+1	no_errors	ENST00000341333	ensembl	human	known	69_37n	missense	33	37.74	20	SNP	0.921	T
TP53	7157	genome.wustl.edu	37	17	7576863	7576863	+	Frame_Shift_Del	DEL	A	A	-			TCGA-A8-A07U-01A-11W-A050-09	TCGA-A8-A07U-10A-01W-A055-09	A	A					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e6409415-8453-489d-a731-49257cade2a3	bd1d1390-403b-4e65-9ecc-430b52d2f8af	g.chr17:7576863delA	ENST00000269305.4	-	9	1172	c.983delT	c.(982-984)ttcfs	p.F328fs	TP53_ENST00000420246.2_Frame_Shift_Del_p.F328fs|TP53_ENST00000445888.2_Frame_Shift_Del_p.F328fs|TP53_ENST00000413465.2_Intron|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000359597.4_Frame_Shift_Del_p.F328fs|TP53_ENST00000455263.2_Frame_Shift_Del_p.F328fs	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	328	Interaction with CARM1.|Interaction with HIPK1. {ECO:0000250}.|Interaction with HIPK2.|Oligomerization.		F -> L (in a sporadic cancer; somatic mutation).|F -> S (in sporadic cancers; somatic mutation).|F -> V (in a sporadic cancer; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.0?(8)|p.T329fs*8(3)|p.F328S(1)|p.?(1)|p.F328fs*9(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	CTGAAGGGTGAAATATTCTCC	0.438		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	dbGAP	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"""L, E, M, O"""	14	Whole gene deletion(8)|Insertion - Frameshift(4)|Substitution - Missense(1)|Unknown(1)	bone(4)|upper_aerodigestive_tract(3)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|stomach(1)|pancreas(1)											122.0	114.0	117.0					17																	7576863		2203	4300	6503	-	-	-	SO:0001589	frameshift_variant	0	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.983delT	17.37:g.7576863delA	ENSP00000269305:p.Phe328fs	Somatic		WXS	Illumina GAIIx	Phase_IV	Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Frame_Shift_Del	DEL	pfam_p53_DNA-bd,pfam_p53_tetrameristn,pfam_p53_transactivation_domain,superfamily_p53-like_TF_DNA-bd,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor	p.F328fs	ENST00000269305.4	37	c.983	CCDS11118.1	17																																																																																			TP53	-	pfam_p53_tetrameristn,superfamily_p53_tetrameristn,prints_p53_tumour_suppressor	ENSG00000141510		0.438	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TP53	HGNC	protein_coding	OTTHUMT00000367397.1	329	0.00	0	A	NM_000546		7576863	7576863	-1	no_errors	ENST00000269305	ensembl	human	known	69_37n	frame_shift_del	310	11.58	41	DEL	1.000	-
TPRG1	285386	genome.wustl.edu	37	3	188925280	188925280	+	Missense_Mutation	SNP	C	C	T			TCGA-A8-A07U-01A-11W-A050-09	TCGA-A8-A07U-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e6409415-8453-489d-a731-49257cade2a3	bd1d1390-403b-4e65-9ecc-430b52d2f8af	g.chr3:188925280C>T	ENST00000345063.3	+	2	274	c.107C>T	c.(106-108)cCg>cTg	p.P36L	TPRG1_ENST00000433971.1_Missense_Mutation_p.P36L	NM_198485.3	NP_940887.1	Q6ZUI0	TPRG1_HUMAN	tumor protein p63 regulated 1	36						cytoplasm (GO:0005737)				endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|skin(2)|urinary_tract(1)	16	all_cancers(143;6.12e-12)|all_hematologic(3;0.0359)|Ovarian(172;0.0925)	all_lung(153;8.23e-09)|Lung NSC(153;3.55e-06)|all_neural(597;0.0019)|Myeloproliferative disorder(1037;0.0255)	Lung(62;6.93e-06)	GBM - Glioblastoma multiforme(93;4.77e-14)		GAAGAGGACCCGATGCCAAGA	0.473																																						dbGAP											0													202.0	176.0	185.0					3																	188925280		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK125682	CCDS3292.1	3q28	2008-02-04	2008-01-16	2008-01-16	ENSG00000188001	ENSG00000188001			24759	protein-coding gene	gene with protein product			"""family with sequence similarity 79, member B"""	FAM79B			Standard	NM_198485		Approved	FLJ41238, FLJ43694	uc003frw.2	Q6ZUI0	OTTHUMG00000156321	ENST00000345063.3:c.107C>T	3.37:g.188925280C>T	ENSP00000341031:p.Pro36Leu	Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_Inositol_phosphatase	p.P36L	ENST00000345063.3	37	c.107	CCDS3292.1	3	.	.	.	.	.	.	.	.	.	.	C	7.275	0.607925	0.14002	.	.	ENSG00000188001	ENST00000433971;ENST00000412373;ENST00000345063;ENST00000456832	.	.	.	6.17	1.35	0.21983	.	0.553031	0.19077	N	0.123360	T	0.24044	0.0582	N	0.24115	0.695	0.09310	N	0.999996	B	0.09022	0.002	B	0.01281	0.0	T	0.15983	-1.0418	9	0.62326	D	0.03	6.1931	4.0188	0.09655	0.1546:0.5254:0.0:0.3201	.	36	Q6ZUI0	TPRG1_HUMAN	L	36	.	ENSP00000341031:P36L	P	+	2	0	TPRG1	190407974	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	-0.132000	0.10467	0.169000	0.19679	-0.812000	0.03155	CCG	TPRG1	-	NULL	ENSG00000188001		0.473	TPRG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TPRG1	HGNC	protein_coding	OTTHUMT00000343931.1	250	0.00	0	C	NM_198485		188925280	188925280	+1	no_errors	ENST00000345063	ensembl	human	known	69_37n	missense	270	18.43	61	SNP	0.001	T
TULP4	56995	genome.wustl.edu	37	6	158924160	158924160	+	Silent	SNP	G	G	C			TCGA-A8-A07U-01A-11W-A050-09	TCGA-A8-A07U-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e6409415-8453-489d-a731-49257cade2a3	bd1d1390-403b-4e65-9ecc-430b52d2f8af	g.chr6:158924160G>C	ENST00000367097.3	+	13	4822	c.3465G>C	c.(3463-3465)ctG>ctC	p.L1155L	TULP4_ENST00000367094.2_Intron	NM_020245.4	NP_064630.2	Q9NRJ4	TULP4_HUMAN	tubby like protein 4	1155					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)|regulation of transcription, DNA-templated (GO:0006355)|response to nutrient (GO:0007584)	cytoplasm (GO:0005737)	sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(7)|kidney(2)|large_intestine(15)|lung(17)|ovary(1)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	49		Breast(66;0.000781)|Ovarian(120;0.0308)|Lung SC(201;0.164)|Prostate(117;0.171)		OV - Ovarian serous cystadenocarcinoma(65;1.64e-18)|BRCA - Breast invasive adenocarcinoma(81;2.67e-05)		CTCTGATGCTGAGTCAGGGCC	0.582																																						dbGAP											0													91.0	85.0	87.0					6																	158924160		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS34561.1, CCDS34562.1	6q25-q26	2013-01-10			ENSG00000130338	ENSG00000130338		"""WD repeat domain containing"""	15530	protein-coding gene	gene with protein product						11595174	Standard	NM_020245		Approved	TUSP, KIAA1397	uc003qrf.3	Q9NRJ4	OTTHUMG00000015910	ENST00000367097.3:c.3465G>C	6.37:g.158924160G>C		Somatic		WXS	Illumina GAIIx	Phase_IV	Q5T3M2|Q5T3M3|Q9HD22|Q9P2F0	Silent	SNP	pfam_Tubby_C,pfam_SOCS_C,pfam_WD40_repeat,superfamily_Tubby_C-like,superfamily_WD40_repeat_dom,superfamily_Tumour_necrosis_fac-like,smart_WD40_repeat,smart_SOCS_C,pfscan_SOCS_C,pfscan_WD40_repeat,pfscan_WD40_repeat_dom	p.L1155	ENST00000367097.3	37	c.3465	CCDS34561.1	6																																																																																			TULP4	-	NULL	ENSG00000130338		0.582	TULP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TULP4	HGNC	protein_coding	OTTHUMT00000042869.1	58	0.00	0	G	NM_020245		158924160	158924160	+1	no_errors	ENST00000367097	ensembl	human	known	69_37n	silent	38	13.64	6	SNP	0.965	C
TXNL1	9352	genome.wustl.edu	37	18	54291576	54291576	+	Silent	SNP	C	C	T			TCGA-A8-A07U-01A-11W-A050-09	TCGA-A8-A07U-10A-01W-A055-09	C	C					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e6409415-8453-489d-a731-49257cade2a3	bd1d1390-403b-4e65-9ecc-430b52d2f8af	g.chr18:54291576C>T	ENST00000217515.6	-	3	516	c.312G>A	c.(310-312)aaG>aaA	p.K104K	TXNL1_ENST00000540155.1_5'UTR|TXNL1_ENST00000590954.1_Silent_p.K104K	NM_004786.2	NP_004777.1	O43396	TXNL1_HUMAN	thioredoxin-like 1	104	Thioredoxin.				cell redox homeostasis (GO:0045454)|glycerol ether metabolic process (GO:0006662)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|proteasome complex (GO:0000502)	disulfide oxidoreductase activity (GO:0015036)|protein disulfide oxidoreductase activity (GO:0015035)			endometrium(1)|large_intestine(1)|lung(1)|urinary_tract(1)	4				READ - Rectum adenocarcinoma(59;0.193)|Colorectal(16;0.211)		CTAAGTGCTGCTTGATTTTTT	0.338																																						dbGAP											0													188.0	183.0	185.0					18																	54291576		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF003938	CCDS11961.1	18q21.31	2011-01-17	2004-05-06	2004-05-07	ENSG00000091164	ENSG00000091164			12436	protein-coding gene	gene with protein product	"""thioredoxin-like, 32kD"""	603049	"""thioredoxin-like, 32kDa"""	TXNL		9473519, 9668102	Standard	NM_004786		Approved	Txl, TRP32	uc002lgg.3	O43396	OTTHUMG00000132722	ENST00000217515.6:c.312G>A	18.37:g.54291576C>T		Somatic		WXS	Illumina GAIIx	Phase_IV		Missense_Mutation	SNP	pfam_PITH_dom,pfam_Thioredoxin_domain,superfamily_Galactose-bd-like,superfamily_Thioredoxin-like_fold	p.S100N	ENST00000217515.6	37	c.299	CCDS11961.1	18																																																																																			TXNL1	-	pfam_Thioredoxin_domain,superfamily_Thioredoxin-like_fold	ENSG00000091164		0.338	TXNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TXNL1	HGNC	protein_coding	OTTHUMT00000256064.2	154	0.00	0	C			54291576	54291576	-1	no_start_codon:pseudogene:no_stop_codon:bad_bp_length_for_coding_region	ENST00000586262	ensembl	human	novel	69_37n	missense	199	13.04	30	SNP	0.998	T
VCPIP1	80124	genome.wustl.edu	37	8	67579088	67579089	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A8-A07U-01A-11W-A050-09	TCGA-A8-A07U-10A-01W-A055-09	-	-					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e6409415-8453-489d-a731-49257cade2a3	bd1d1390-403b-4e65-9ecc-430b52d2f8af	g.chr8:67579088_67579089insC	ENST00000310421.4	-	1	363_364	c.105_106insG	c.(103-108)gggcttfs	p.L36fs	C8orf44_ENST00000519561.1_5'Flank|C8orf44-SGK3_ENST00000519289.1_5'Flank|C8orf44_ENST00000521889.1_5'Flank	NM_025054.4	NP_079330.2	Q96JH7	VCIP1_HUMAN	valosin containing protein (p97)/p47 complex interacting protein 1	36					endoplasmic reticulum membrane fusion (GO:0016320)|Golgi reassembly (GO:0090168)|mitotic nuclear division (GO:0007067)|protein K11-linked deubiquitination (GO:0035871)|protein K48-linked deubiquitination (GO:0071108)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)	ubiquitin-specific protease activity (GO:0004843)	p.L36fs*51(1)		breast(7)|central_nervous_system(2)|cervix(2)|endometrium(3)|kidney(6)|large_intestine(3)|lung(14)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		Lung NSC(129;0.142)|all_lung(136;0.227)	Epithelial(68;0.000771)|OV - Ovarian serous cystadenocarcinoma(28;0.00248)|all cancers(69;0.00296)|BRCA - Breast invasive adenocarcinoma(89;0.149)			CGCTTCAAAAGCCCCCCCGAAG	0.678																																					NSCLC(179;265 2915 6144 43644)	dbGAP											1	Insertion - Frameshift(1)	kidney(1)																																								-	-	-	SO:0001589	frameshift_variant	0			AB058753	CCDS6192.1	8q13	2014-02-24			ENSG00000175073	ENSG00000175073		"""OTU domain containing"""	30897	protein-coding gene	gene with protein product		611745				11347906, 12509440	Standard	NM_025054		Approved	VCIP135, KIAA1850, FLJ23132, DUBA3	uc003xwn.3	Q96JH7	OTTHUMG00000164560	ENST00000310421.4:c.106dupG	8.37:g.67579095_67579095dupC	ENSP00000309031:p.Leu36fs	Somatic		WXS	Illumina GAIIx	Phase_IV	Q504T4|Q86T93|Q86W01|Q8N3A9|Q9H5R8	Frame_Shift_Ins	INS	pfam_OTU,pfscan_OTU	p.L35fs	ENST00000310421.4	37	c.106_105	CCDS6192.1	8																																																																																			VCPIP1	-	NULL	ENSG00000175073		0.678	VCPIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	VCPIP1	HGNC	protein_coding	OTTHUMT00000379227.1	16	0.00	0	-			67579088	67579089	-1	no_errors	ENST00000310421	ensembl	human	known	69_37n	frame_shift_ins	23	11.54	3	INS	1.000:0.991	C
ZNF649	65251	genome.wustl.edu	37	19	52400227	52400227	+	Missense_Mutation	SNP	G	G	A			TCGA-A8-A07U-01A-11W-A050-09	TCGA-A8-A07U-10A-01W-A055-09	G	G					Unknown	Untested	Somatic	Phase_I	WXS	none	1		Illumina GAIIx	e6409415-8453-489d-a731-49257cade2a3	bd1d1390-403b-4e65-9ecc-430b52d2f8af	g.chr19:52400227G>A	ENST00000354957.3	-	3	304	c.20C>T	c.(19-21)tCa>tTa	p.S7L	ZNF649_ENST00000600738.1_Missense_Mutation_p.S7L|CTC-429C10.2_ENST00000600329.1_RNA	NM_023074.3	NP_075562.2	Q9BS31	ZN649_HUMAN	zinc finger protein 649	7					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	extracellular space (GO:0005615)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	29		all_neural(266;0.0602)		GBM - Glioblastoma multiforme(134;0.00152)|OV - Ovarian serous cystadenocarcinoma(262;0.0185)		CAGGGTCAGTGATTCCTGTAA	0.478																																						dbGAP											0													158.0	154.0	155.0					19																	52400227		2203	4300	6503	-	-	-	SO:0001583	missense	0			BC005368	CCDS12843.1	19q13.41	2013-01-08				ENSG00000198093		"""Zinc fingers, C2H2-type"", ""-"""	25741	protein-coding gene	gene with protein product		611903				15950191	Standard	NM_023074		Approved	FLJ12644	uc002pxy.3	Q9BS31		ENST00000354957.3:c.20C>T	19.37:g.52400227G>A	ENSP00000347043:p.Ser7Leu	Somatic		WXS	Illumina GAIIx	Phase_IV	A8MYJ5|B2RDC4|Q9H9N2	Missense_Mutation	SNP	pfam_Znf_C2H2,pfam_Krueppel-associated_box,superfamily_Krueppel-associated_box,smart_Krueppel-associated_box,smart_Znf_C2H2-like,pfscan_Znf_C2H2,pfscan_Krueppel-associated_box	p.S7L	ENST00000354957.3	37	c.20	CCDS12843.1	19	.	.	.	.	.	.	.	.	.	.	G	6.568	0.473020	0.12461	.	.	ENSG00000198093	ENST00000354957	T	0.00737	5.76	2.51	-1.16	0.09678	Krueppel-associated box (1);	.	.	.	.	T	0.00552	0.0018	L	0.33245	0.995	0.09310	N	1	P	0.47762	0.9	B	0.38954	0.286	T	0.33292	-0.9874	9	0.05436	T	0.98	.	5.1666	0.15088	0.4805:0.0:0.5195:0.0	.	7	Q9BS31	ZN649_HUMAN	L	7	ENSP00000347043:S7L	ENSP00000347043:S7L	S	-	2	0	ZNF649	57092039	0.000000	0.05858	0.008000	0.14137	0.018000	0.09664	0.037000	0.13840	-0.324000	0.08589	-0.300000	0.09419	TCA	ZNF649	-	superfamily_Krueppel-associated_box	ENSG00000198093		0.478	ZNF649-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ZNF649	HGNC	protein_coding	OTTHUMT00000461097.1	275	0.00	0	G	NM_023074		52400227	52400227	-1	no_errors	ENST00000354957	ensembl	human	known	69_37n	missense	291	18.44	66	SNP	0.002	A
