#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_ORegAnno_bin	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
ABTB2	25841	genome.wustl.edu	37	11	34173993	34173993	+	Missense_Mutation	SNP	C	C	T			TCGA-E9-A1RA-01A-11D-A14G-09	TCGA-E9-A1RA-10A-01D-A14G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6d067461-2002-468e-934d-2721f6cb97ff	6bc8e5c1-4fdf-4c35-a8db-0a5957be4e05	g.chr11:34173993C>T	ENST00000435224.2	-	17	3443	c.3019G>A	c.(3019-3021)Gac>Aac	p.D1007N	ABTB2_ENST00000298992.2_Missense_Mutation_p.D821N	NM_145804.2	NP_665803.2	Q8N961	ABTB2_HUMAN	ankyrin repeat and BTB (POZ) domain containing 2	1007					cellular response to toxic substance (GO:0097237)	nucleus (GO:0005634)				breast(2)|central_nervous_system(2)|endometrium(4)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		Acute lymphoblastic leukemia(5;0.0508)|all_hematologic(20;0.0691)				TTCTGCAGGTCCTGCAGTGGA	0.642																																						dbGAP											0													40.0	32.0	34.0					11																	34173993		2202	4298	6500	-	-	-	SO:0001583	missense	0			AK056863	CCDS7890.1, CCDS7890.2	11p13	2013-10-02			ENSG00000166016	ENSG00000166016		"""BTB/POZ domain containing"", ""Ankyrin repeat domain containing"""	23842	protein-coding gene	gene with protein product							Standard	NM_145804		Approved	DKFZP586C1619, BTBD22, ABTB2A	uc001mvl.2	Q8N961	OTTHUMG00000044382	ENST00000435224.2:c.3019G>A	11.37:g.34173993C>T	ENSP00000410157:p.Asp1007Asn		A8K6S9|E9PRW7|Q52LD6|Q6MZW4|Q8NB44	Missense_Mutation	SNP	pfam_BTB_POZ,pfam_Ankyrin_rpt,superfamily_Histone-fold,superfamily_BTB/POZ_fold,superfamily_Ankyrin_rpt-contain_dom,smart_Ankyrin_rpt,smart_BTB/POZ-like,pfscan_Ankyrin_rpt,pfscan_Ankyrin_rpt-contain_dom,pfscan_BTB/POZ-like	p.D1007N	ENST00000435224.2	37	c.3019	CCDS7890.2	11	.	.	.	.	.	.	.	.	.	.	C	17.51	3.407538	0.62399	.	.	ENSG00000166016	ENST00000435224;ENST00000298992	T;T	0.60672	0.17;0.17	4.77	3.85	0.44370	.	0.248947	0.39020	N	0.001484	T	0.58148	0.2102	L	0.59436	1.845	0.42518	D	0.992997	P	0.50272	0.933	P	0.44860	0.462	T	0.64028	-0.6503	10	0.59425	D	0.04	-7.6093	14.9441	0.71016	0.0:0.8562:0.1438:0.0	.	821	Q8N961	ABTB2_HUMAN	N	1007;821	ENSP00000410157:D1007N;ENSP00000298992:D821N	ENSP00000298992:D821N	D	-	1	0	ABTB2	34130569	1.000000	0.71417	0.998000	0.56505	0.765000	0.43378	4.638000	0.61353	0.974000	0.38366	0.462000	0.41574	GAC	ABTB2	-	NULL	ENSG00000166016		0.642	ABTB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	ABTB2	HGNC	protein_coding	OTTHUMT00000388703.3	11	0.00	0	C	NM_145804		34173993	34173993	-1	no_errors	ENST00000435224	ensembl	human	known	69_37n	missense	19	24.00	6	SNP	1.000	T
ANKRD30BL	554226	genome.wustl.edu	37	2	133015314	133015314	+	5'UTR	SNP	G	G	A	rs112315337		TCGA-E9-A1RA-01A-11D-A14G-09	TCGA-E9-A1RA-10A-01D-A14G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6d067461-2002-468e-934d-2721f6cb97ff	6bc8e5c1-4fdf-4c35-a8db-0a5957be4e05	g.chr2:133015314G>A	ENST00000470729.1	-	0	228				MIR663B_ENST00000408361.1_RNA	NR_027020.2		A7E2S9	A30BL_HUMAN	ankyrin repeat domain 30B-like											endometrium(1)|kidney(3)	4						AGGGACGCCTGGGGAAGGGAG	0.687																																						dbGAP											0																																										-	-	-	SO:0001623	5_prime_UTR_variant	0					2q21.2	2013-01-22	2010-06-14	2010-06-14	ENSG00000163046	ENSG00000163046		"""Ankyrin repeat domain containing"""	35167	protein-coding gene	gene with protein product			"""non-protein coding RNA 164"", ""ankyrin repeat domain 30B pseudogene 3"""	NCRNA00164, ANKRD30BP3		17114284	Standard	NR_027019		Approved		uc002tti.3	A7E2S9	OTTHUMG00000153491	ENST00000470729.1:c.-1197C>T	2.37:g.133015314G>A			B8ZZL7	RNA	SNP	-	NULL	ENST00000470729.1	37	NULL		2																																																																																			ANKRD30BL	-	-	ENSG00000163046		0.687	ANKRD30BL-002	KNOWN	basic	processed_transcript	ANKRD30BL	HGNC	protein_coding	OTTHUMT00000331354.1	27	0.00	0	G	NR_027019		133015314	133015314	-1	no_errors	ENST00000470729	ensembl	human	known	69_37n	rna	46	13.21	7	SNP	0.071	A
CCDC14	64770	genome.wustl.edu	37	3	123663791	123663791	+	Missense_Mutation	SNP	T	T	C			TCGA-E9-A1RA-01A-11D-A14G-09	TCGA-E9-A1RA-10A-01D-A14G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6d067461-2002-468e-934d-2721f6cb97ff	6bc8e5c1-4fdf-4c35-a8db-0a5957be4e05	g.chr3:123663791T>C	ENST00000488653.2	-	9	1482	c.1392A>G	c.(1390-1392)atA>atG	p.I464M	CCDC14_ENST00000310351.4_Missense_Mutation_p.I304M|CCDC14_ENST00000489746.1_Missense_Mutation_p.I264M|CCDC14_ENST00000483247.1_Intron|CCDC14_ENST00000433542.2_Missense_Mutation_p.I423M|CCDC14_ENST00000485727.1_Missense_Mutation_p.I264M			Q49A88	CCD14_HUMAN	coiled-coil domain containing 14	464					substantia nigra development (GO:0021762)	centrosome (GO:0005813)				NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|lung(10)	21		Lung NSC(201;0.0371)|Prostate(884;0.0405)|Myeloproliferative disorder(1037;0.205)		Lung(219;0.00942)|GBM - Glioblastoma multiforme(114;0.159)		GAAGTACAGATATACATGCCT	0.358																																						dbGAP											0													130.0	103.0	112.0					3																	123663791		2203	4300	6503	-	-	-	SO:0001583	missense	0			AL122079	CCDS3025.2	3q21.1	2014-03-20			ENSG00000175455	ENSG00000175455			25766	protein-coding gene	gene with protein product						12477932	Standard	NM_022757		Approved	FLJ12892, DKFZp434L1050	uc010hrt.3	Q49A88	OTTHUMG00000153005	ENST00000488653.2:c.1392A>G	3.37:g.123663791T>C	ENSP00000420180:p.Ile464Met		B7Z2T2|B8ZZ41|B8ZZ58|D3DN98|Q7Z3N3|Q86T30|Q8IWF8|Q8WUJ8|Q96K47|Q9H9A3|Q9UFH0	Missense_Mutation	SNP	NULL	p.I464M	ENST00000488653.2	37	c.1392		3	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	17.61|17.61	3.432558|3.432558	0.62844|0.62844	.|.	.|.	ENSG00000175455|ENSG00000175455	ENST00000488653;ENST00000310351;ENST00000485727;ENST00000489746;ENST00000433542;ENST00000409697;ENST00000419247|ENST00000479903	T;T;T;T;T;T;T|.	0.55413|.	0.52;0.52;0.52;0.52;0.52;0.52;0.52|.	5.35|5.35	5.35|5.35	0.76521|0.76521	.|.	0.261702|.	0.32703|.	N|.	0.005741|.	T|T	0.51601|0.51601	0.1684|0.1684	L|L	0.58101|0.58101	1.795|1.795	0.30149|0.30149	N|N	0.803208|0.803208	D;D;D;D|.	0.61080|.	0.989;0.989;0.979;0.98|.	P;P;P;P|.	0.61003|.	0.882;0.882;0.835;0.715|.	T|T	0.54748|0.54748	-0.8247|-0.8247	10|5	0.52906|.	T|.	0.07|.	.|.	9.229|9.229	0.37425|0.37425	0.0:0.0814:0.0:0.9186|0.0:0.0814:0.0:0.9186	.|.	464;423;264;305|.	Q49A88;Q49A88-6;Q49A88-4;Q49A88-5|.	CCD14_HUMAN;.;.;.|.	M|C	464;304;264;264;423;445;105|46	ENSP00000420180:I464M;ENSP00000312031:I304M;ENSP00000418002:I264M;ENSP00000418403:I264M;ENSP00000395706:I423M;ENSP00000386866:I445M;ENSP00000400957:I105M|.	ENSP00000312031:I304M|.	I|Y	-|-	3|2	3|0	CCDC14|CCDC14	125146481|125146481	1.000000|1.000000	0.71417|0.71417	0.760000|0.760000	0.31359|0.31359	0.952000|0.952000	0.60782|0.60782	0.846000|0.846000	0.27682|0.27682	2.371000|2.371000	0.80710|0.80710	0.533000|0.533000	0.62120|0.62120	ATA|TAT	CCDC14	-	NULL	ENSG00000175455		0.358	CCDC14-202	KNOWN	basic|appris_candidate_longest	protein_coding	CCDC14	HGNC	protein_coding		80	0.00	0	T	NM_022757		123663791	123663791	-1	no_errors	ENST00000488653	ensembl	human	known	69_37n	missense	59	19.18	14	SNP	0.797	C
CCDC74A	90557	genome.wustl.edu	37	2	132288159	132288159	+	Silent	SNP	C	C	T			TCGA-E9-A1RA-01A-11D-A14G-09	TCGA-E9-A1RA-10A-01D-A14G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6d067461-2002-468e-934d-2721f6cb97ff	6bc8e5c1-4fdf-4c35-a8db-0a5957be4e05	g.chr2:132288159C>T	ENST00000295171.6	+	3	441	c.303C>T	c.(301-303)ccC>ccT	p.P101P	CCDC74A_ENST00000467992.2_Silent_p.P203P|CCDC74A_ENST00000409856.3_Intron	NM_001258304.1|NM_001258305.1|NM_138770.2	NP_001245233.1|NP_001245234.1|NP_620125.1	Q96AQ1	CC74A_HUMAN	coiled-coil domain containing 74A	101										endometrium(4)|large_intestine(3)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19						CAGATGGCCCCTCAGGAAACC	0.647																																						dbGAP											0													10.0	18.0	15.0					2																	132288159		2051	4238	6289	-	-	-	SO:0001819	synonymous_variant	0				CCDS2167.1, CCDS58732.1, CCDS74578.1	2q21.1	2008-02-05		2006-02-16	ENSG00000163040	ENSG00000163040			25197	protein-coding gene	gene with protein product						12477932	Standard	NM_138770		Approved	FLJ40345	uc002ttb.4	Q96AQ1	OTTHUMG00000131667	ENST00000295171.6:c.303C>T	2.37:g.132288159C>T			Q6P4I5	Silent	SNP	NULL	p.P101	ENST00000295171.6	37	c.303	CCDS2167.1	2																																																																																			CCDC74A	-	NULL	ENSG00000163040		0.647	CCDC74A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	CCDC74A	HGNC	protein_coding	OTTHUMT00000254570.2	34	0.00	0	C	NM_138770		132288159	132288159	+1	no_errors	ENST00000295171	ensembl	human	known	69_37n	silent	39	28.57	16	SNP	0.638	T
CLEC18C	283971	genome.wustl.edu	37	16	70211379	70211379	+	Missense_Mutation	SNP	C	C	T	rs150702800	byFrequency	TCGA-E9-A1RA-01A-11D-A14G-09	TCGA-E9-A1RA-10A-01D-A14G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6d067461-2002-468e-934d-2721f6cb97ff	6bc8e5c1-4fdf-4c35-a8db-0a5957be4e05	g.chr16:70211379C>T	ENST00000569347.2	+	3	706	c.452C>T	c.(451-453)aCg>aTg	p.T151M	CLEC18C_ENST00000536907.2_Missense_Mutation_p.T151M|CLEC18C_ENST00000541793.2_Missense_Mutation_p.T151M|CLEC18C_ENST00000561612.1_Intron|CLEC18C_ENST00000314151.8_Missense_Mutation_p.T151M	NM_173619.2	NP_775890.2	Q8NCF0	CL18C_HUMAN	C-type lectin domain family 18, member C	151	SCP.					extracellular region (GO:0005576)	carbohydrate binding (GO:0030246)			endometrium(3)|large_intestine(6)|lung(1)	10						ACCCACTACACGCAGGTGAGT	0.582													c|||	20	0.00399361	0.0	0.0072	5008	,	,		17630	0.0		0.0139	False		,,,				2504	0.001					dbGAP											0													12.0	11.0	11.0					16																	70211379		2080	4022	6102	-	-	-	SO:0001583	missense	0			AL833339	CCDS32473.1	16q22.1	2010-04-27	2009-03-10	2009-03-10		ENSG00000157335		"""C-type lectin domain containing"""	28538	protein-coding gene	gene with protein product						12477932	Standard	XM_005255906		Approved	MGC34761		Q8NCF0		ENST00000569347.2:c.452C>T	16.37:g.70211379C>T	ENSP00000455920:p.Thr151Met		Q8IUW8	Missense_Mutation	SNP	pfam_C-type_lectin,pfam_CAP_domain,superfamily_CAP_domain,superfamily_C-type_lectin_fold,smart_Allrgn_V5/Tpx1,smart_EGF-like,smart_C-type_lectin,pfscan_EG-like_dom,pfscan_C-type_lectin,prints_Allrgn_V5/Tpx1	p.T151M	ENST00000569347.2	37	c.452	CCDS32473.1	16	.	.	.	.	.	.	.	.	.	.	c	15.27	2.783528	0.49891	.	.	ENSG00000157335	ENST00000541793;ENST00000314151;ENST00000433156;ENST00000539438;ENST00000536907	T;T;T	0.16073	2.37;2.37;2.37	4.32	4.32	0.51571	CAP domain (3);	0.000000	0.85682	D	0.000000	T	0.49389	0.1554	H	0.96080	3.765	0.49687	D	0.999819	D	0.71674	0.998	P	0.59643	0.861	T	0.65738	-0.6095	10	0.66056	D	0.02	.	12.6961	0.57005	0.0:1.0:0.0:0.0	.	151	Q8NCF0	CL18C_HUMAN	M	151;151;151;147;151	ENSP00000444875:T151M;ENSP00000326538:T151M;ENSP00000444726:T151M	ENSP00000326538:T151M	T	+	2	0	CLEC18C	68768880	0.998000	0.40836	0.993000	0.49108	0.104000	0.19210	4.129000	0.57957	2.125000	0.65367	0.298000	0.19748	ACG	CLEC18C	-	pfam_CAP_domain,superfamily_CAP_domain,smart_Allrgn_V5/Tpx1,prints_Allrgn_V5/Tpx1	ENSG00000157335		0.582	CLEC18C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	CLEC18C	HGNC	protein_coding	OTTHUMT00000434588.2	22	0.00	0	C	NM_173619		70211379	70211379	+1	no_errors	ENST00000314151	ensembl	human	known	69_37n	missense	31	24.39	10	SNP	0.997	T
DMD	1756	genome.wustl.edu	37	X	32613970	32613970	+	Missense_Mutation	SNP	T	T	G			TCGA-E9-A1RA-01A-11D-A14G-09	TCGA-E9-A1RA-10A-01D-A14G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6d067461-2002-468e-934d-2721f6cb97ff	6bc8e5c1-4fdf-4c35-a8db-0a5957be4e05	g.chrX:32613970T>G	ENST00000357033.4	-	13	1712	c.1506A>C	c.(1504-1506)caA>caC	p.Q502H	DMD_ENST00000288447.4_Missense_Mutation_p.Q494H|DMD_ENST00000378677.2_Missense_Mutation_p.Q498H	NM_000109.3|NM_004006.2|NM_004011.3|NM_004012.3|NM_004014.2	NP_000100.2|NP_003997|NP_004002.2|NP_004003.1|NP_004005.1	P11532	DMD_HUMAN	dystrophin	502			Missing (in BMD).		cardiac muscle cell action potential (GO:0086001)|cardiac muscle contraction (GO:0060048)|cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|extracellular matrix organization (GO:0030198)|motile cilium assembly (GO:0044458)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|peptide biosynthetic process (GO:0043043)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of heart rate (GO:0002027)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of skeletal muscle contraction (GO:0014819)|regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion (GO:0014809)|regulation of voltage-gated calcium channel activity (GO:1901385)	cell junction (GO:0030054)|cell surface (GO:0009986)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dystrophin-associated glycoprotein complex (GO:0016010)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|syntrophin complex (GO:0016013)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|dystroglycan binding (GO:0002162)|myosin binding (GO:0017022)|nitric-oxide synthase binding (GO:0050998)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				TGACTTGTTCTTGTTCTAGAT	0.368																																						dbGAP											0													166.0	134.0	145.0					X																	32613970		2202	4300	6502	-	-	-	SO:0001583	missense	0			AF047505	CCDS14231.1, CCDS14232.1, CCDS14233.1, CCDS14234.1, CCDS48091.1, CCDS55394.1, CCDS55395.1, CCDS75965.1	Xp21.2	2014-09-17	2008-08-01		ENSG00000198947	ENSG00000198947			2928	protein-coding gene	gene with protein product	"""muscular dystrophy, Duchenne and Becker types"""	300377	"""dystrophin (muscular dystrophy, Duchenne and Becker types), includes DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272"", ""mental retardation, X-linked 85"""	MRX85		3282674, 3607877, 23900271	Standard	NM_004019		Approved	BMD, DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272	uc004dda.1	P11532	OTTHUMG00000021336	ENST00000357033.4:c.1506A>C	X.37:g.32613970T>G	ENSP00000354923:p.Gln502His		E9PDN1|Q02295|Q14169|Q14170|Q5JYU0|Q6NSJ9|Q7KZ48|Q8N754|Q9UCW3|Q9UCW4	Missense_Mutation	SNP	pfam_Spectrin_repeat,pfam_EF-hand_dom_typ1,pfam_EF-hand_dom_typ2,pfam_CH-domain,pfam_Znf_ZZ,pfam_WW_Rsp5_WWP,pfam_CAMSAP_CH,superfamily_CH-domain,superfamily_WW_Rsp5_WWP,smart_CH-domain,smart_Spectrin/alpha-actinin,smart_WW_Rsp5_WWP,smart_Znf_ZZ,pirsf_Dystrophin/utrophin,pfscan_CH-domain,pfscan_WW_Rsp5_WWP,pfscan_Znf_ZZ	p.Q502H	ENST00000357033.4	37	c.1506	CCDS14233.1	X	.	.	.	.	.	.	.	.	.	.	T	16.69	3.193974	0.58017	.	.	ENSG00000198947	ENST00000534884;ENST00000378677;ENST00000357033;ENST00000542849;ENST00000535280;ENST00000288447	T;T;T	0.52057	0.68;0.68;0.68	5.42	-1.4	0.08968	.	0.250456	0.19771	U	0.106427	T	0.57286	0.2043	L	0.54323	1.7	0.80722	D	1	D;D;D;D	0.67145	0.996;0.986;0.995;0.989	P;P;D;D	0.68483	0.897;0.864;0.958;0.916	T	0.56208	-0.8017	10	0.56958	D	0.05	.	11.627	0.51151	0.0:0.505:0.0:0.495	.	494;494;502;498	Q4G0X0;P11532-4;P11532;E9PDN5	.;.;DMD_HUMAN;.	H	494;498;502;502;379;494	ENSP00000367948:Q498H;ENSP00000354923:Q502H;ENSP00000288447:Q494H	ENSP00000288447:Q494H	Q	-	3	2	DMD	32523891	1.000000	0.71417	0.978000	0.43139	0.859000	0.49053	1.765000	0.38481	-0.378000	0.07918	-0.499000	0.04595	CAA	DMD	-	pfam_Spectrin_repeat,smart_Spectrin/alpha-actinin,pirsf_Dystrophin/utrophin	ENSG00000198947		0.368	DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	DMD	HGNC	protein_coding	OTTHUMT00000056182.2	127	0.00	0	T	NM_004006		32613970	32613970	-1	no_errors	ENST00000357033	ensembl	human	known	69_37n	missense	88	31.78	41	SNP	0.988	G
GLT8D1	55830	genome.wustl.edu	37	3	52729291	52729291	+	Silent	SNP	A	A	C			TCGA-E9-A1RA-01A-11D-A14G-09	TCGA-E9-A1RA-10A-01D-A14G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6d067461-2002-468e-934d-2721f6cb97ff	6bc8e5c1-4fdf-4c35-a8db-0a5957be4e05	g.chr3:52729291A>C	ENST00000407584.3	-	10	1690	c.840T>G	c.(838-840)gcT>gcG	p.A280A	GLT8D1_ENST00000478968.2_Silent_p.A280A|GLT8D1_ENST00000266014.5_Silent_p.A280A|GLT8D1_ENST00000463827.1_5'UTR|SNORD69_ENST00000391150.1_RNA|GLT8D1_ENST00000491606.1_Silent_p.A280A|GLT8D1_ENST00000394783.3_Silent_p.A280A	NM_001010983.1|NM_001278280.1	NP_001010983.1|NP_001265209.1	Q68CQ7	GL8D1_HUMAN	glycosyltransferase 8 domain containing 1	280						integral component of membrane (GO:0016021)|membrane (GO:0016020)	transferase activity, transferring glycosyl groups (GO:0016757)			breast(1)|endometrium(1)|kidney(3)|large_intestine(3)	8				BRCA - Breast invasive adenocarcinoma(193;6.78e-05)|Kidney(197;0.000618)|KIRC - Kidney renal clear cell carcinoma(197;0.000779)|OV - Ovarian serous cystadenocarcinoma(275;0.0482)		TGATGCTACCAGCCAGGGTTC	0.433																																						dbGAP											0													212.0	201.0	205.0					3																	52729291		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AY358579	CCDS2862.1	3p21.1	2013-02-22			ENSG00000016864	ENSG00000016864		"""Glycosyltransferase family 8 domain containing"""	24870	protein-coding gene	gene with protein product						12975309	Standard	NM_152932		Approved	AD-017, FLJ14611	uc003dfi.4	Q68CQ7	OTTHUMG00000158759	ENST00000407584.3:c.840T>G	3.37:g.52729291A>C			Q7Z4D1|Q8N2J6|Q9P0I5	Silent	SNP	pfam_Glyco_trans_8	p.A280	ENST00000407584.3	37	c.840	CCDS2862.1	3																																																																																			GLT8D1	-	pfam_Glyco_trans_8	ENSG00000016864		0.433	GLT8D1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	GLT8D1	HGNC	protein_coding	OTTHUMT00000352065.3	96	0.00	0	A	NM_152932		52729291	52729291	-1	no_errors	ENST00000266014	ensembl	human	known	69_37n	silent	87	12.12	12	SNP	0.995	C
GOLGA6D	653643	genome.wustl.edu	37	15	75580671	75580671	+	Missense_Mutation	SNP	G	G	C	rs201109551	byFrequency	TCGA-E9-A1RA-01A-11D-A14G-09	TCGA-E9-A1RA-10A-01D-A14G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6d067461-2002-468e-934d-2721f6cb97ff	6bc8e5c1-4fdf-4c35-a8db-0a5957be4e05	g.chr15:75580671G>C	ENST00000434739.3	+	7	571	c.530G>C	c.(529-531)tGt>tCt	p.C177S		NM_001145224.1	NP_001138696.1	P0CG33	GOG6D_HUMAN	golgin A6 family, member D	177						Golgi apparatus (GO:0005794)				kidney(1)|lung(1)	2						CGGGCTCTCTGTGCTGTGTCT	0.557																																						dbGAP											0													14.0	14.0	14.0					15																	75580671		681	1577	2258	-	-	-	SO:0001583	missense	0				CCDS45308.1	15q24.2	2013-05-10	2010-02-12	2009-09-04	ENSG00000140478	ENSG00000140478			32204	protein-coding gene	gene with protein product			"""golgi autoantigen, golgin subfamily a, 6D"""				Standard	NM_001145224		Approved		uc010uma.2	P0CG33	OTTHUMG00000172672	ENST00000434739.3:c.530G>C	15.37:g.75580671G>C	ENSP00000391085:p.Cys177Ser			Missense_Mutation	SNP	NULL	p.C177S	ENST00000434739.3	37	c.530	CCDS45308.1	15	.	.	.	.	.	.	.	.	.	.	-	0.008	-1.914881	0.00503	.	.	ENSG00000140478	ENST00000434739	T	0.06371	3.31	1.57	0.589	0.17452	.	.	.	.	.	T	0.01353	0.0044	N	0.00382	-1.575	0.20307	N	0.999918	B	0.06786	0.001	B	0.04013	0.001	T	0.45963	-0.9225	9	0.02654	T	1	.	7.744	0.28858	0.0:0.7322:0.2678:0.0	.	177	P0CG33	GOG6D_HUMAN	S	177	ENSP00000391085:C177S	ENSP00000391085:C177S	C	+	2	0	GOLGA6D	73367724	0.991000	0.36638	0.005000	0.12908	0.131000	0.20780	3.167000	0.50793	0.233000	0.21120	-1.252000	0.01501	TGT	GOLGA6D	-	NULL	ENSG00000140478		0.557	GOLGA6D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GOLGA6D	HGNC	protein_coding	OTTHUMT00000419798.1	26	0.00	0	G	NM_001145224		75580671	75580671	+1	no_errors	ENST00000434739	ensembl	human	known	69_37n	missense	39	17.02	8	SNP	0.999	C
GRAMD4	23151	genome.wustl.edu	37	22	47070636	47070636	+	Silent	SNP	C	C	T			TCGA-E9-A1RA-01A-11D-A14G-09	TCGA-E9-A1RA-10A-01D-A14G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6d067461-2002-468e-934d-2721f6cb97ff	6bc8e5c1-4fdf-4c35-a8db-0a5957be4e05	g.chr22:47070636C>T	ENST00000406902.1	+	16	1680	c.1467C>T	c.(1465-1467)taC>taT	p.Y489Y	GRAMD4_ENST00000361034.3_Silent_p.Y489Y|GRAMD4_ENST00000408031.1_Silent_p.Y12Y			Q6IC98	GRAM4_HUMAN	GRAM domain containing 4	489	GRAM.				apoptotic process (GO:0006915)	integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)				breast(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|skin(1)	12		Breast(42;0.00571)|Ovarian(80;0.00965)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0178)|BRCA - Breast invasive adenocarcinoma(115;0.166)		GGGTGCTCTACGTCACGGAGA	0.662																																						dbGAP											0													64.0	58.0	60.0					22																	47070636		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0				CCDS33672.1	22q13.31	2008-03-03			ENSG00000075240	ENSG00000075240			29113	protein-coding gene	gene with protein product	"""death-inducing-protein"""	613691				15565177	Standard	NM_015124		Approved	KIAA0767, DIP	uc003bhx.3	Q6IC98	OTTHUMG00000150402	ENST00000406902.1:c.1467C>T	22.37:g.47070636C>T			A9IN51|A9IN57|Q68EN0|Q9UGE6|Q9Y4B9	Silent	SNP	pfam_GRAM,smart_GRAM	p.Y489	ENST00000406902.1	37	c.1467	CCDS33672.1	22																																																																																			GRAMD4	-	pfam_GRAM,smart_GRAM	ENSG00000075240		0.662	GRAMD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRAMD4	HGNC	protein_coding	OTTHUMT00000317969.1	25	0.00	0	C	NM_015124		47070636	47070636	+1	no_errors	ENST00000361034	ensembl	human	known	69_37n	silent	30	21.05	8	SNP	0.994	T
GRM6	2916	genome.wustl.edu	37	5	178408703	178408703	+	Silent	SNP	C	C	T			TCGA-E9-A1RA-01A-11D-A14G-09	TCGA-E9-A1RA-10A-01D-A14G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6d067461-2002-468e-934d-2721f6cb97ff	6bc8e5c1-4fdf-4c35-a8db-0a5957be4e05	g.chr5:178408703C>T	ENST00000517717.1	-	11	2627	c.2589G>A	c.(2587-2589)acG>acA	p.T863T	GRM6_ENST00000231188.5_Silent_p.T863T|RP11-281O15.4_ENST00000519491.1_RNA			O15303	GRM6_HUMAN	glutamate receptor, metabotropic 6	863					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|detection of light stimulus involved in visual perception (GO:0050908)|detection of visible light (GO:0009584)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|locomotory behavior (GO:0007626)|positive regulation of calcium ion import (GO:0090280)|regulation of synaptic transmission, glutamatergic (GO:0051966)|retina development in camera-type eye (GO:0060041)|synaptic transmission (GO:0007268)	cell projection (GO:0042995)|endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|new growing cell tip (GO:0035841)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642)|protein homodimerization activity (GO:0042803)			NS(2)|breast(4)|endometrium(9)|large_intestine(12)|lung(21)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	55	all_cancers(89;0.000828)|Renal(175;0.000159)|all_epithelial(37;0.000167)|Lung NSC(126;0.00199)|all_lung(126;0.00351)	all_cancers(40;0.0156)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.245)		GGGCTGCCACCGTGGAGGTGG	0.602																																						dbGAP											0													91.0	93.0	93.0					5																	178408703		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			U82083	CCDS4442.1	5q35	2014-01-28						"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4598	protein-coding gene	gene with protein product		604096				9215706	Standard	NM_000843		Approved	GPRC1F, mGlu6, MGLUR6, CSNB1B	uc003mjr.3	O15303	OTTHUMG00000130889	ENST00000517717.1:c.2589G>A	5.37:g.178408703C>T				Silent	SNP	pfam_ANF_lig-bd_rcpt,pfam_GPCR_3_C,pfam_GPCR_3_9-Cys_dom,prints_GPCR_3,prints_GPCR_3_mtglu_rcpt_6,prints_GPCR_3_mtglu_rcpt,prints_GPCR_3_mtglu_rcpt_4,pfscan_GPCR_3_C	p.T863	ENST00000517717.1	37	c.2589	CCDS4442.1	5																																																																																			GRM6	-	prints_GPCR_3_mtglu_rcpt_6	ENSG00000113262		0.602	GRM6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	GRM6	HGNC	protein_coding	OTTHUMT00000253474.2	51	0.00	0	C			178408703	178408703	-1	no_errors	ENST00000231188	ensembl	human	known	69_37n	silent	68	27.66	26	SNP	0.022	T
KIF16B	55614	genome.wustl.edu	37	20	16488613	16488613	+	Missense_Mutation	SNP	T	T	C			TCGA-E9-A1RA-01A-11D-A14G-09	TCGA-E9-A1RA-10A-01D-A14G-09	T	T					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6d067461-2002-468e-934d-2721f6cb97ff	6bc8e5c1-4fdf-4c35-a8db-0a5957be4e05	g.chr20:16488613T>C	ENST00000354981.2	-	7	846	c.689A>G	c.(688-690)aAg>aGg	p.K230R	KIF16B_ENST00000378003.2_5'UTR|KIF16B_ENST00000355755.3_Missense_Mutation_p.K230R|KIF16B_ENST00000408042.1_Missense_Mutation_p.K230R	NM_001199865.1|NM_024704.4	NP_001186794.1|NP_078980.3	Q96L93	KI16B_HUMAN	kinesin family member 16B	230	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|early endosome to late endosome transport (GO:0045022)|endoderm development (GO:0007492)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|formation of primary germ layer (GO:0001704)|Golgi to endosome transport (GO:0006895)|microtubule-based movement (GO:0007018)|receptor catabolic process (GO:0032801)|regulation of receptor recycling (GO:0001919)	early endosome (GO:0005769)|endosome (GO:0005768)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-3-phosphate binding (GO:0032266)|plus-end-directed microtubule motor activity (GO:0008574)			NS(2)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(24)|ovary(1)|prostate(15)|skin(3)|upper_aerodigestive_tract(2)	74						CTGAGTGAACTTGATGGTGAA	0.532																																						dbGAP											0													199.0	162.0	175.0					20																	16488613		2203	4300	6503	-	-	-	SO:0001583	missense	0			AK000142	CCDS13122.1, CCDS56178.1	20p11.23	2008-03-03	2008-03-03	2008-03-03	ENSG00000089177	ENSG00000089177		"""Kinesins"""	15869	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 23"""	C20orf23		16084724, 16782399	Standard	NM_024704		Approved	FLJ20135, dJ971B4.1, SNX23	uc010gci.2	Q96L93	OTTHUMG00000031927	ENST00000354981.2:c.689A>G	20.37:g.16488613T>C	ENSP00000347076:p.Lys230Arg		A6NKJ9|A7E2A8|B1AKG3|B1AKT7|C9JDN5|C9JI52|C9JSM8|C9JWJ7|Q2TBF5|Q5HYC0|Q5HYK1|Q5JWW3|Q5TFK5|Q86VL9|Q86YS5|Q8IYU0|Q9BQJ8|Q9BQM0|Q9BQM1|Q9BQM5|Q9H5U0|Q9HCI2|Q9NXN9	Missense_Mutation	SNP	pfam_Kinesin_motor_dom,pfam_FHA_dom,superfamily_SMAD_FHA_domain,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	p.K230R	ENST00000354981.2	37	c.689	CCDS13122.1	20	.	.	.	.	.	.	.	.	.	.	T	15.71	2.914372	0.52546	.	.	ENSG00000089177	ENST00000354981;ENST00000355755;ENST00000377997;ENST00000408042	T;T;T	0.74737	-0.87;-0.87;-0.87	5.84	5.84	0.93424	Kinesin, motor domain (5);	0.054426	0.64402	D	0.000001	T	0.55705	0.1937	N	0.04132	-0.27	0.80722	D	1	B;B;B;B	0.25772	0.045;0.134;0.046;0.057	B;B;B;B	0.22753	0.028;0.041;0.018;0.031	T	0.56025	-0.8047	10	0.42905	T	0.14	.	16.2109	0.82158	0.0:0.0:0.0:1.0	.	230;230;230;230	Q96L93-4;Q96L93-2;Q96L93-6;Q96L93	.;.;.;KI16B_HUMAN	R	230	ENSP00000347076:K230R;ENSP00000347995:K230R;ENSP00000384164:K230R	ENSP00000347076:K230R	K	-	2	0	KIF16B	16436613	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.297000	0.72757	2.230000	0.72887	0.455000	0.32223	AAG	KIF16B	-	pfam_Kinesin_motor_dom,smart_Kinesin_motor_dom,pfscan_Kinesin_motor_dom,prints_Kinesin_motor_dom	ENSG00000089177		0.532	KIF16B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	KIF16B	HGNC	protein_coding	OTTHUMT00000078104.2	55	0.00	0	T	NM_017683		16488613	16488613	-1	no_errors	ENST00000408042	ensembl	human	known	69_37n	missense	60	25.93	21	SNP	1.000	C
LEKR1	389170	genome.wustl.edu	37	3	156710975	156710975	+	Missense_Mutation	SNP	A	A	G			TCGA-E9-A1RA-01A-11D-A14G-09	TCGA-E9-A1RA-10A-01D-A14G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6d067461-2002-468e-934d-2721f6cb97ff	6bc8e5c1-4fdf-4c35-a8db-0a5957be4e05	g.chr3:156710975A>G	ENST00000470811.1	+	10	1441	c.106A>G	c.(106-108)Aga>Gga	p.R36G	LEKR1_ENST00000356539.4_Missense_Mutation_p.R340G			Q6ZMV7	LEKR1_HUMAN	leucine, glutamate and lysine rich 1	36										breast(1)|large_intestine(5)|lung(3)|ovary(1)|skin(1)	11			LUSC - Lung squamous cell carcinoma(72;0.0461)|Lung(72;0.0465)			AGACATAAAGAGAAGAATTAA	0.348																																						dbGAP											0													81.0	85.0	83.0					3																	156710975		2203	4297	6500	-	-	-	SO:0001583	missense	0			AK131473	CCDS54660.1	3q25.31	2014-02-12	2008-02-21		ENSG00000197980	ENSG00000197980			33765	protein-coding gene	gene with protein product		613536					Standard	NM_001004316		Approved	FLJ16641	uc021xgh.1	Q6ZMV7	OTTHUMG00000160130	ENST00000470811.1:c.106A>G	3.37:g.156710975A>G	ENSP00000418214:p.Arg36Gly			Missense_Mutation	SNP	superfamily_Ribosomal_L29	p.R340G	ENST00000470811.1	37	c.1018		3	.	.	.	.	.	.	.	.	.	.	A	14.62	2.588509	0.46110	.	.	ENSG00000178110	ENST00000470811;ENST00000356539	T;T	0.56776	0.47;0.44	4.97	2.47	0.30058	.	0.199051	0.35151	N	0.003419	T	0.51160	0.1658	M	0.74258	2.255	0.27265	N	0.958518	P	0.48016	0.904	B	0.41988	0.372	T	0.48833	-0.9000	10	0.44086	T	0.13	-3.933	10.6704	0.45755	0.6801:0.3199:0.0:0.0	.	36	Q6ZMV7	LEKR1_HUMAN	G	36;340	ENSP00000418214:R36G;ENSP00000348936:R340G	ENSP00000348936:R340G	R	+	1	2	LEKR1	158193669	1.000000	0.71417	0.002000	0.10522	0.690000	0.40134	2.055000	0.41345	0.223000	0.20920	0.482000	0.46254	AGA	LEKR1	-	NULL	ENSG00000178110		0.348	LEKR1-010	KNOWN	upstream_ATG|basic	protein_coding	LEKR1	HGNC	protein_coding	OTTHUMT00000351625.3	41	0.00	0	A	NM_001004316		156710975	156710975	+1	no_errors	ENST00000356539	ensembl	human	known	69_37n	missense	45	18.18	10	SNP	0.673	G
LRRC10	376132	genome.wustl.edu	37	12	70004328	70004328	+	Silent	SNP	C	C	T			TCGA-E9-A1RA-01A-11D-A14G-09	TCGA-E9-A1RA-10A-01D-A14G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6d067461-2002-468e-934d-2721f6cb97ff	6bc8e5c1-4fdf-4c35-a8db-0a5957be4e05	g.chr12:70004328C>T	ENST00000361484.3	-	1	614	c.291G>A	c.(289-291)ttG>ttA	p.L97L		NM_201550.2	NP_963844.2	Q5BKY1	LRC10_HUMAN	leucine rich repeat containing 10	97					cardiac muscle cell development (GO:0055013)	cytoskeleton (GO:0005856)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|sarcomere (GO:0030017)				large_intestine(2)|lung(6)	8	all_cancers(2;2.83e-105)|Breast(13;9.83e-07)|Esophageal squamous(21;0.187)		Epithelial(6;1.98e-18)|GBM - Glioblastoma multiforme(2;7.43e-12)|Lung(24;0.000185)|OV - Ovarian serous cystadenocarcinoma(12;0.00126)|STAD - Stomach adenocarcinoma(21;0.00501)|Kidney(9;0.143)|LUSC - Lung squamous cell carcinoma(43;0.24)			AGAGCTGTTTCAAGGTGCACA	0.572																																						dbGAP											0													80.0	76.0	78.0					12																	70004328		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AK095935	CCDS31856.1	12q15	2009-09-08				ENSG00000198812			20264	protein-coding gene	gene with protein product		610846				14751244	Standard	NM_201550		Approved	HRLRRP, LRRC10A	uc001svc.3	Q5BKY1		ENST00000361484.3:c.291G>A	12.37:g.70004328C>T			Q6ZVY4	Silent	SNP	pfam_Leu-rich_rpt,smart_Leu-rich_rpt_typical-subtyp	p.L97	ENST00000361484.3	37	c.291	CCDS31856.1	12																																																																																			LRRC10	-	smart_Leu-rich_rpt_typical-subtyp	ENSG00000198812		0.572	LRRC10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC10	HGNC	protein_coding	OTTHUMT00000403834.1	39	0.00	0	C	NM_201550		70004328	70004328	-1	no_errors	ENST00000361484	ensembl	human	known	69_37n	silent	41	41.43	29	SNP	0.998	T
LRRC7	57554	genome.wustl.edu	37	1	70397248	70397248	+	Missense_Mutation	SNP	G	G	A			TCGA-E9-A1RA-01A-11D-A14G-09	TCGA-E9-A1RA-10A-01D-A14G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6d067461-2002-468e-934d-2721f6cb97ff	6bc8e5c1-4fdf-4c35-a8db-0a5957be4e05	g.chr1:70397248G>A	ENST00000035383.5	+	6	622	c.592G>A	c.(592-594)Gag>Aag	p.E198K	LRRC7_ENST00000310961.5_Missense_Mutation_p.E203K|LRRC7_ENST00000415775.2_5'UTR	NM_020794.2	NP_065845.1	Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	198						cell junction (GO:0030054)|cytoplasm (GO:0005737)|postsynaptic membrane (GO:0045211)				breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						TGAATTCGGTGAGCTGGTAAG	0.393																																						dbGAP											0													93.0	86.0	88.0					1																	70397248		2203	4300	6503	-	-	-	SO:0001583	missense	0				CCDS645.1	1p31.1	2008-02-05			ENSG00000033122	ENSG00000033122			18531	protein-coding gene	gene with protein product		614453				12525888	Standard	NM_020794		Approved	KIAA1365, densin-180	uc001dep.3	Q96NW7	OTTHUMG00000059194	ENST00000035383.5:c.592G>A	1.37:g.70397248G>A	ENSP00000035383:p.Glu198Lys		Q5VXC2|Q5VXC3|Q68D07|Q86VE8|Q8WX20|Q9P2I2	Missense_Mutation	SNP	pfam_Leu-rich_rpt,pfam_PDZ,superfamily_PDZ,smart_Leu-rich_rpt_typical-subtyp,smart_PDZ,pfscan_PDZ	p.E198K	ENST00000035383.5	37	c.592	CCDS645.1	1	.	.	.	.	.	.	.	.	.	.	G	25.6	4.656823	0.88154	.	.	ENSG00000033122	ENST00000310961;ENST00000035383;ENST00000370957	T;T	0.09723	2.95;2.95	5.92	5.92	0.95590	.	0.054292	0.64402	D	0.000001	T	0.07999	0.0200	L	0.37800	1.135	0.80722	D	1	P	0.41524	0.753	P	0.47941	0.562	T	0.36163	-0.9759	10	0.20046	T	0.44	.	15.8271	0.78718	0.0:0.0:1.0:0.0	.	198	Q96NW7	LRRC7_HUMAN	K	203;198;21	ENSP00000309245:E203K;ENSP00000035383:E198K	ENSP00000035383:E198K	E	+	1	0	LRRC7	70169836	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	6.310000	0.72830	2.794000	0.96219	0.650000	0.86243	GAG	LRRC7	-	smart_Leu-rich_rpt_typical-subtyp	ENSG00000033122		0.393	LRRC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	LRRC7	HGNC	protein_coding	OTTHUMT00000131261.1	63	0.00	0	G	NM_020794		70397248	70397248	+1	no_errors	ENST00000035383	ensembl	human	known	69_37n	missense	48	17.24	10	SNP	1.000	A
NEK3	4752	genome.wustl.edu	37	13	52725510	52725510	+	Missense_Mutation	SNP	C	C	A			TCGA-E9-A1RA-01A-11D-A14G-09	TCGA-E9-A1RA-10A-01D-A14G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6d067461-2002-468e-934d-2721f6cb97ff	6bc8e5c1-4fdf-4c35-a8db-0a5957be4e05	g.chr13:52725510C>A	ENST00000400357.2	-	5	1704	c.411G>T	c.(409-411)caG>caT	p.Q137H	NEK3_ENST00000452082.2_Missense_Mutation_p.Q158H|NEK3_ENST00000339406.3_Missense_Mutation_p.Q137H|NEK3_ENST00000378101.2_Missense_Mutation_p.Q137H			P51956	NEK3_HUMAN	NIMA-related kinase 3	137	Interaction with VAV2.|Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				mitotic nuclear division (GO:0007067)|protein phosphorylation (GO:0006468)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|stomach(2)	18		Breast(56;0.000207)|Lung NSC(96;0.00145)|Prostate(109;0.034)|Hepatocellular(98;0.065)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.81e-08)		CTTTTCCATTCTGAGTGAGGA	0.388																																						dbGAP											0													76.0	69.0	71.0					13																	52725510		1848	4097	5945	-	-	-	SO:0001583	missense	0			AK290259, BC019916	CCDS73576.1	13q14.2-q21.1	2014-07-17	2012-11-15		ENSG00000136098	ENSG00000136098	2.7.11.1		7746	protein-coding gene	gene with protein product	"""serine/threonine-protein kinase NEK3"", ""phosphorylase B kinase kinase"", ""glycogen synthase A kinase"", ""hydroxyalkyl-protein kinase"""	604044	"""NIMA (never in mitosis gene a)-related kinase 3"""			8274451, 7522034	Standard	NM_002498		Approved	HSPK36, MGC29949	uc010tgy.2	P51956	OTTHUMG00000016958	ENST00000400357.2:c.411G>T	13.37:g.52725510C>A	ENSP00000383210:p.Gln137His		A8K2J4|Q5TAP2|Q8J023|Q8WUN5	Missense_Mutation	SNP	pfam_Prot_kinase_cat_dom,pfam_Ser-Thr/Tyr_kinase_cat_dom,superfamily_Kinase-like_dom,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.Q158H	ENST00000400357.2	37	c.474	CCDS53871.1	13	.	.	.	.	.	.	.	.	.	.	C	11.50	1.656301	0.29425	.	.	ENSG00000136098	ENST00000339406;ENST00000378101;ENST00000400357;ENST00000452082;ENST00000547422	T;T;T;T;T	0.65916	-0.18;-0.18;-0.18;-0.18;-0.18	5.86	3.4	0.38934	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.268800	0.41938	N	0.000793	T	0.48114	0.1482	.	.	.	0.28943	N	0.89086	B;B;B	0.26708	0.006;0.157;0.13	B;B;B	0.28139	0.03;0.086;0.052	T	0.44817	-0.9303	9	0.48119	T	0.1	.	5.9383	0.19179	0.0:0.1416:0.1453:0.7131	.	137;158;131	P51956;Q6ZN64;F8VS47	NEK3_HUMAN;.;.	H	137;137;137;158;131	ENSP00000339429:Q137H;ENSP00000367341:Q137H;ENSP00000383210:Q137H;ENSP00000404197:Q158H;ENSP00000448716:Q131H	ENSP00000448782:Q137H	Q	-	3	2	NEK3	51623511	0.990000	0.36364	0.995000	0.50966	0.990000	0.78478	0.545000	0.23268	0.472000	0.27344	-0.238000	0.12139	CAG	NEK3	-	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	ENSG00000136098		0.388	NEK3-002	KNOWN	upstream_ATG|basic|CCDS	protein_coding	NEK3	HGNC	protein_coding	OTTHUMT00000045047.3	84	0.00	0	C			52725510	52725510	-1	no_errors	ENST00000452082	ensembl	human	known	69_37n	missense	45	19.64	11	SNP	0.981	A
NEURL4	84461	genome.wustl.edu	37	17	7227242	7227242	+	Missense_Mutation	SNP	G	G	A			TCGA-E9-A1RA-01A-11D-A14G-09	TCGA-E9-A1RA-10A-01D-A14G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6d067461-2002-468e-934d-2721f6cb97ff	6bc8e5c1-4fdf-4c35-a8db-0a5957be4e05	g.chr17:7227242G>A	ENST00000399464.2	-	12	2167	c.2152C>T	c.(2152-2154)Cgc>Tgc	p.R718C	NEURL4_ENST00000570460.1_Missense_Mutation_p.R696C|NEURL4_ENST00000315614.7_Missense_Mutation_p.R718C	NM_032442.2	NP_115818.2	Q96JN8	NEUL4_HUMAN	neuralized E3 ubiquitin protein ligase 4	718	NHR 4. {ECO:0000255|PROSITE- ProRule:PRU00400}.					cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(12)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						TGATGGAAGCGCAGGTCAGAG	0.607											OREG0024134	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										dbGAP											0													61.0	71.0	68.0					17																	7227242		2052	4188	6240	-	-	-	SO:0001583	missense	0				CCDS42251.1, CCDS42252.1	17p13	2013-10-24	2013-10-24		ENSG00000215041	ENSG00000215041			34410	protein-coding gene	gene with protein product		615865	"""neuralized homolog 4 (Drosophila)"""			22261722, 22441691	Standard	NM_001005408		Approved	KIAA1787	uc002gga.1	Q96JN8	OTTHUMG00000132319	ENST00000399464.2:c.2152C>T	17.37:g.7227242G>A	ENSP00000382390:p.Arg718Cys	640	Q6GPI8|Q96IU9|Q9H0B0	Missense_Mutation	SNP	pfam_Neu_Z,superfamily_ConA-like_lec_gl,smart_Neu_Z,pfscan_Neu_Z	p.R718C	ENST00000399464.2	37	c.2152	CCDS42251.1	17	.	.	.	.	.	.	.	.	.	.	G	23.6	4.436462	0.83885	.	.	ENSG00000215041	ENST00000315614;ENST00000399464	T;T	0.35605	1.31;1.3	5.7	5.7	0.88788	NEUZ (3);	0.000000	0.85682	D	0.000000	T	0.67373	0.2886	M	0.87971	2.92	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.998	T	0.72516	-0.4269	10	0.87932	D	0	-19.223	18.6186	0.91313	0.0:0.0:1.0:0.0	.	718;718	Q96JN8-2;Q96JN8	.;NEUL4_HUMAN	C	718	ENSP00000319826:R718C;ENSP00000382390:R718C	ENSP00000319826:R718C	R	-	1	0	NEURL4	7167966	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.054000	0.76649	2.688000	0.91661	0.655000	0.94253	CGC	NEURL4	-	pfam_Neu_Z,smart_Neu_Z,pfscan_Neu_Z	ENSG00000215041		0.607	NEURL4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	NEURL4	HGNC	protein_coding	OTTHUMT00000255434.2	23	0.00	0	G	NM_032442		7227242	7227242	-1	no_errors	ENST00000399464	ensembl	human	known	69_37n	missense	25	25.71	9	SNP	1.000	A
NTPCR	84284	genome.wustl.edu	37	1	233092096	233092096	+	Silent	SNP	A	A	G			TCGA-E9-A1RA-01A-11D-A14G-09	TCGA-E9-A1RA-10A-01D-A14G-09	A	A					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6d067461-2002-468e-934d-2721f6cb97ff	6bc8e5c1-4fdf-4c35-a8db-0a5957be4e05	g.chr1:233092096A>G	ENST00000366628.5	+	3	288	c.201A>G	c.(199-201)ttA>ttG	p.L67L	NTPCR_ENST00000366627.4_Silent_p.L67L	NM_032324.1	NP_115700.1	Q9BSD7	NTPCR_HUMAN	nucleoside-triphosphatase, cancer-related	67						extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	ATP binding (GO:0005524)|nucleoside-triphosphatase activity (GO:0017111)|nucleotide phosphatase activity, acting on free nucleotides (GO:0098519)|poly(A) RNA binding (GO:0044822)			large_intestine(2)|lung(1)|ovary(1)	4						CCTTCAGGTTAGAGCCTCCAC	0.453																																						dbGAP											0													147.0	128.0	135.0					1																	233092096		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			BC005102	CCDS1597.1	1q42.2	2010-12-20	2010-12-20	2010-12-20	ENSG00000135778	ENSG00000135778	3.6.1.15		28204	protein-coding gene	gene with protein product	"""human cancer-related NTPase"""		"""chromosome 1 open reading frame 57"""	C1orf57		17291528	Standard	NM_032324		Approved	MGC13186, HCR-NTPase	uc001hvj.1	Q9BSD7	OTTHUMG00000037822	ENST00000366628.5:c.201A>G	1.37:g.233092096A>G				Silent	SNP	pfam_Nuc-triphosphatase_THEP1,smart_AAA+_ATPase	p.L67	ENST00000366628.5	37	c.201	CCDS1597.1	1																																																																																			NTPCR	-	pfam_Nuc-triphosphatase_THEP1,smart_AAA+_ATPase	ENSG00000135778		0.453	NTPCR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	NTPCR	HGNC	protein_coding	OTTHUMT00000092324.2	91	0.00	0	A	NM_032324		233092096	233092096	+1	no_errors	ENST00000366627	ensembl	human	known	69_37n	silent	94	16.81	19	SNP	0.015	G
OR7C2	26658	genome.wustl.edu	37	19	15053236	15053236	+	Silent	SNP	G	G	A			TCGA-E9-A1RA-01A-11D-A14G-09	TCGA-E9-A1RA-10A-01D-A14G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6d067461-2002-468e-934d-2721f6cb97ff	6bc8e5c1-4fdf-4c35-a8db-0a5957be4e05	g.chr19:15053236G>A	ENST00000248072.3	+	1	936	c.936G>A	c.(934-936)gaG>gaA	p.E312E		NM_012377.1	NP_036509.1	O60412	OR7C2_HUMAN	olfactory receptor, family 7, subfamily C, member 2	312						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			large_intestine(3)|lung(8)|ovary(2)|skin(2)	15	Ovarian(108;0.203)					CTCTCAAAGAGGGGACCATTG	0.488																																						dbGAP											0													50.0	50.0	50.0					19																	15053236		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			U86255	CCDS12320.1	19p13.1	2012-08-09				ENSG00000127529		"""GPCR / Class A : Olfactory receptors"""	8374	protein-coding gene	gene with protein product				OR7C3			Standard	NM_012377		Approved	OR19-18	uc010xoc.2	O60412		ENST00000248072.3:c.936G>A	19.37:g.15053236G>A			O43881|Q6IFP9	Silent	SNP	pfam_7TM_GPCR_Rhodpsn,pfam_7TM_GPCR_olfarory/Srsx,pfscan_GPCR_Rhodpsn_supfam,prints_Olfact_rcpt,prints_7TM_GPCR_Rhodpsn	p.E312	ENST00000248072.3	37	c.936	CCDS12320.1	19																																																																																			OR7C2	-	NULL	ENSG00000127529		0.488	OR7C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	OR7C2	HGNC	protein_coding	OTTHUMT00000466281.1	32	0.00	0	G			15053236	15053236	+1	no_errors	ENST00000248072	ensembl	human	known	69_37n	silent	30	23.08	9	SNP	0.000	A
PIK3CA	5290	genome.wustl.edu	37	3	178936082	178936082	+	Missense_Mutation	SNP	G	G	A	rs121913273		TCGA-E9-A1RA-01A-11D-A14G-09	TCGA-E9-A1RA-10A-01D-A14G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6d067461-2002-468e-934d-2721f6cb97ff	6bc8e5c1-4fdf-4c35-a8db-0a5957be4e05	g.chr3:178936082G>A	ENST00000263967.3	+	10	1781	c.1624G>A	c.(1624-1626)Gaa>Aaa	p.E542K		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	542	PIK helical. {ECO:0000255|PROSITE- ProRule:PRU00878}.		E -> K (in CLOVE, KERSEB, CRC and BC; also found in glioblastoma multiforme and endometrial carcinoma; shows an increase in lipid kinase activity; oncogenic in vivo; occurs in the interface between the PI3K helical domain and the nSH2 (N- terminal SH2) region of the p85 regulatory subunit and may reduce the inhibitory effect of p85; requires interaction with RAS to induce cellular transformation). {ECO:0000269|PubMed:15289301, ECO:0000269|PubMed:15784156, ECO:0000269|PubMed:15924253, ECO:0000269|PubMed:15994075, ECO:0000269|PubMed:16322209, ECO:0000269|PubMed:16353168, ECO:0000269|PubMed:16533766, ECO:0000269|PubMed:17673550, ECO:0000269|PubMed:22658544}.|E -> Q (found in an endometrial carcinoma sample; unknown pathological significance). {ECO:0000269|PubMed:16322209}.|E -> V (in BC; unknown pathological significance). {ECO:0000269|PubMed:16353168}.		angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)	p.E542K(545)|p.E542Q(10)		NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	TCCTCTCTCTGAAATCACTGA	0.333	E542K(BT483_BREAST)|E542K(CAL51_BREAST)|E542K(HGC27_STOMACH)|E542K(IM95_STOMACH)|E542K(JHUEM1_ENDOMETRIUM)|E542K(NCIH1341_LUNG)|E542K(SW948_LARGE_INTESTINE)|E542K(T84_LARGE_INTESTINE)|E542K(VMCUB1_URINARY_TRACT)	57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)	dbGAP		Dom	yes		3	3q26.3	5290	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""		"""E, O"""	555	Substitution - Missense(555)	breast(176)|large_intestine(166)|urinary_tract(45)|endometrium(37)|skin(19)|lung(18)|stomach(16)|ovary(16)|thyroid(14)|upper_aerodigestive_tract(9)|central_nervous_system(7)|cervix(6)|liver(6)|oesophagus(5)|penis(4)|kidney(3)|soft_tissue(2)|haematopoietic_and_lymphoid_tissue(2)|prostate(2)|biliary_tract(1)|pituitary(1)											56.0	56.0	56.0					3																	178936082		1809	4069	5878	-	-	-	SO:0001583	missense	0				CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.1624G>A	3.37:g.178936082G>A	ENSP00000263967:p.Glu542Lys		Q14CW1|Q99762	Missense_Mutation	SNP	pfam_PInositide-3_kin_accessory_dom,pfam_PI3/4_kinase_cat_dom,pfam_PI3K_Ras-bd_dom,pfam_PI3K_C2_dom,pfam_PI3K_adapt-bd_dom,superfamily_Kinase-like_dom,superfamily_ARM-type_fold,superfamily_C2_Ca/lipid-bd_dom_CaLB,smart_PI3K_adapt-bd_dom,smart_PI3K_Ras-bd_dom,smart_PI3K_C2_dom,smart_PInositide-3_kin_accessory_dom,smart_PI3/4_kinase_cat_dom,pfscan_PI3/4_kinase_cat_dom	p.E542K	ENST00000263967.3	37	c.1624	CCDS43171.1	3	.	.	.	.	.	.	.	.	.	.	G	34	5.360420	0.95877	.	.	ENSG00000121879	ENST00000263967	T	0.62105	0.05	5.78	5.78	0.91487	Phosphoinositide 3-kinase, accessory (PIK) domain (3);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.69287	0.3094	L	0.41356	1.27	0.80722	D	1	D	0.65815	0.995	D	0.63192	0.912	T	0.60296	-0.7291	10	0.09843	T	0.71	-23.9623	20.0024	0.97423	0.0:0.0:1.0:0.0	.	542	P42336	PK3CA_HUMAN	K	542	ENSP00000263967:E542K	ENSP00000263967:E542K	E	+	1	0	PIK3CA	180418776	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	9.476000	0.97823	2.722000	0.93159	0.467000	0.42956	GAA	PIK3CA	-	pfam_PInositide-3_kin_accessory_dom,superfamily_ARM-type_fold,smart_PInositide-3_kin_accessory_dom	ENSG00000121879		0.333	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	PIK3CA	HGNC	protein_coding	OTTHUMT00000348409.2	62	0.00	0	G			178936082	178936082	+1	no_errors	ENST00000263967	ensembl	human	known	69_37n	missense	43	23.21	13	SNP	1.000	A
PTK2	5747	genome.wustl.edu	37	8	141749152	141749152	+	Missense_Mutation	SNP	C	C	A			TCGA-E9-A1RA-01A-11D-A14G-09	TCGA-E9-A1RA-10A-01D-A14G-09	C	C					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6d067461-2002-468e-934d-2721f6cb97ff	6bc8e5c1-4fdf-4c35-a8db-0a5957be4e05	g.chr8:141749152C>A	ENST00000522684.1	-	21	2019	c.1790G>T	c.(1789-1791)cGa>cTa	p.R597L	PTK2_ENST00000519465.1_Missense_Mutation_p.R225L|PTK2_ENST00000519419.1_Missense_Mutation_p.R641L|PTK2_ENST00000521059.1_Missense_Mutation_p.R597L|PTK2_ENST00000517887.1_Missense_Mutation_p.R641L|PTK2_ENST00000538769.1_Missense_Mutation_p.R265L|PTK2_ENST00000535192.1_Missense_Mutation_p.R597L|PTK2_ENST00000340930.3_Missense_Mutation_p.R597L|PTK2_ENST00000395218.2_Missense_Mutation_p.R597L	NM_153831.3	NP_722560.1	Q05397	FAK1_HUMAN	protein tyrosine kinase 2	597	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell motility (GO:0048870)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|central nervous system neuron axonogenesis (GO:0021955)|embryo development (GO:0009790)|endothelial cell migration (GO:0043542)|ephrin receptor signaling pathway (GO:0048013)|establishment of cell polarity (GO:0030010)|establishment of nucleus localization (GO:0040023)|extracellular matrix organization (GO:0030198)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|growth hormone receptor signaling pathway (GO:0060396)|heart morphogenesis (GO:0003007)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|microtubule cytoskeleton organization (GO:0000226)|negative regulation of anoikis (GO:2000811)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of organ growth (GO:0046621)|negative regulation of synapse assembly (GO:0051964)|netrin-activated signaling pathway (GO:0038007)|neuron migration (GO:0001764)|peptidyl-tyrosine phosphorylation (GO:0018108)|placenta development (GO:0001890)|platelet activation (GO:0030168)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|protein autophosphorylation (GO:0046777)|regulation of cell adhesion mediated by integrin (GO:0033628)|regulation of cell proliferation (GO:0042127)|regulation of cell shape (GO:0008360)|regulation of cytoskeleton organization (GO:0051493)|regulation of endothelial cell migration (GO:0010594)|regulation of focal adhesion assembly (GO:0051893)|regulation of osteoblast differentiation (GO:0045667)|regulation of Rho GTPase activity (GO:0032319)|signal complex assembly (GO:0007172)|transforming growth factor beta receptor signaling pathway (GO:0007179)|vasculogenesis (GO:0001570)	apical plasma membrane (GO:0016324)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|stress fiber (GO:0001725)	actin binding (GO:0003779)|ATP binding (GO:0005524)|JUN kinase binding (GO:0008432)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|SH2 domain binding (GO:0042169)|signal transducer activity (GO:0004871)			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(6)|lung(23)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	48	all_cancers(97;1.05e-15)|all_epithelial(106;2.09e-14)|Lung NSC(106;1.61e-06)|all_lung(105;2.5e-06)|Ovarian(258;0.01)|Acute lymphoblastic leukemia(118;0.155)	Ovarian(118;2.72e-05)|Breast(495;0.159)	BRCA - Breast invasive adenocarcinoma(115;0.137)			GGTAAAACGTCGAAAATTGAT	0.284																																						dbGAP											0													61.0	60.0	60.0					8																	141749152		2203	4300	6503	-	-	-	SO:0001583	missense	0			L13616	CCDS6381.1, CCDS56557.1	8q24.3	2013-02-18	2013-02-18		ENSG00000169398	ENSG00000169398	2.7.10.1	"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	9611	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 71"""	600758	"""PTK2 protein tyrosine kinase 2"""			8422239	Standard	NM_153831		Approved	FAK, FADK, FAK1, PPP1R71	uc003yvt.3	Q05397	OTTHUMG00000067438	ENST00000522684.1:c.1790G>T	8.37:g.141749152C>A	ENSP00000429911:p.Arg597Leu		B4E2N6|F5H4S4|Q14291|Q9UD85	Missense_Mutation	SNP	pfam_Ser-Thr/Tyr_kinase_cat_dom,pfam_Focal_adhesion_kin_target_dom,pfam_Prot_kinase_cat_dom,pfam_FERM_central,superfamily_Kinase-like_dom,superfamily_Focal_adhesion_kin_target_dom,superfamily_FERM_central,smart_Band_41_domain,smart_Ser/Thr_dual-sp_kinase_dom,smart_Tyr_kinase_cat_dom,pfscan_FERM_domain,pfscan_Prot_kinase_cat_dom,prints_Ser-Thr/Tyr_kinase_cat_dom	p.R597L	ENST00000522684.1	37	c.1790	CCDS6381.1	8	.	.	.	.	.	.	.	.	.	.	C	32	5.182301	0.94885	.	.	ENSG00000169398	ENST00000522684;ENST00000535192;ENST00000519465;ENST00000517887;ENST00000521059;ENST00000395214;ENST00000395218;ENST00000354438;ENST00000395221;ENST00000523539;ENST00000340930;ENST00000538769;ENST00000519419;ENST00000521986;ENST00000342207	D;D;D;D;D;D;D;D;D;D;D	0.82526	-1.62;-1.62;-1.62;-1.62;-1.62;-1.62;-1.62;-1.62;-1.62;-1.62;-1.62	5.07	5.07	0.68467	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.052534	0.64402	D	0.000001	D	0.88526	0.6460	L	0.45228	1.405	0.80722	D	1	D;D;D;D;D;D;D;P;D;D	0.89917	0.996;1.0;1.0;0.995;1.0;0.994;1.0;0.831;1.0;0.973	D;D;D;D;D;D;D;D;D;P	0.97110	0.994;0.999;1.0;0.991;0.999;0.988;1.0;0.965;1.0;0.871	D	0.89783	0.3962	10	0.87932	D	0	.	18.4912	0.90848	0.0:1.0:0.0:0.0	.	597;292;517;597;619;597;549;445;265;225	B4E2N6;B4DH13;Q59GN8;Q05397;Q658W2;Q8IYN9;Q59GM6;Q05397-2;Q8N9D7;E9PEI4	.;.;.;FAK1_HUMAN;.;.;.;.;.;.	L	597;597;225;641;597;549;597;518;292;269;597;265;641;295;443	ENSP00000429911:R597L;ENSP00000438009:R597L;ENSP00000429170:R225L;ENSP00000429082:R641L;ENSP00000429474:R597L;ENSP00000378644:R597L;ENSP00000428492:R269L;ENSP00000341189:R597L;ENSP00000445742:R265L;ENSP00000429129:R641L;ENSP00000430603:R295L	ENSP00000341189:R597L	R	-	2	0	PTK2	141818334	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.642000	0.83385	2.368000	0.80403	0.655000	0.94253	CGA	PTK2	-	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	ENSG00000169398		0.284	PTK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	PTK2	HGNC	protein_coding	OTTHUMT00000378054.5	88	0.00	0	C	NM_005607		141749152	141749152	-1	no_errors	ENST00000395218	ensembl	human	known	69_37n	missense	39	29.09	16	SNP	1.000	A
TMC7	79905	genome.wustl.edu	37	16	19070770	19070770	+	Missense_Mutation	SNP	G	G	A			TCGA-E9-A1RA-01A-11D-A14G-09	TCGA-E9-A1RA-10A-01D-A14G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6d067461-2002-468e-934d-2721f6cb97ff	6bc8e5c1-4fdf-4c35-a8db-0a5957be4e05	g.chr16:19070770G>A	ENST00000304381.5	+	15	2190	c.2060G>A	c.(2059-2061)gGa>gAa	p.G687E	TMC7_ENST00000569532.1_Missense_Mutation_p.G687E|TMC7_ENST00000421369.3_Missense_Mutation_p.G577E	NM_024847.3	NP_079123.3	Q7Z402	TMC7_HUMAN	transmembrane channel-like 7	687					ion transport (GO:0006811)	integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	28						GCCTTAGCTGGAGCACACAAA	0.502																																						dbGAP											0													192.0	169.0	177.0					16																	19070770		2197	4300	6497	-	-	-	SO:0001583	missense	0			AY263165	CCDS10573.1, CCDS53992.1, CCDS73837.1	16p13.11	2008-02-05			ENSG00000170537	ENSG00000170537			23000	protein-coding gene	gene with protein product						12812529, 12906855	Standard	XM_005255597		Approved	FLJ21240	uc002dfq.3	Q7Z402	OTTHUMG00000131456	ENST00000304381.5:c.2060G>A	16.37:g.19070770G>A	ENSP00000304710:p.Gly687Glu		E7ERB6|Q5H9Q8|Q7Z5M4|Q86WX0|Q9H766	Missense_Mutation	SNP	pfam_TMC	p.G687E	ENST00000304381.5	37	c.2060	CCDS10573.1	16	.	.	.	.	.	.	.	.	.	.	G	18.52	3.641528	0.67244	.	.	ENSG00000170537	ENST00000304381;ENST00000421369	T;T	0.71222	-0.46;-0.55	5.6	5.6	0.85130	.	0.000000	0.85682	D	0.000000	T	0.65565	0.2703	L	0.52266	1.64	0.58432	D	0.999994	B;B	0.33904	0.431;0.431	B;B	0.38264	0.269;0.269	T	0.61657	-0.7018	10	0.02654	T	1	.	17.3781	0.87398	0.0:0.0:1.0:0.0	.	687;687	Q7Z402;B3KSZ3	TMC7_HUMAN;.	E	687;577	ENSP00000304710:G687E;ENSP00000397081:G577E	ENSP00000304710:G687E	G	+	2	0	TMC7	18978271	1.000000	0.71417	0.997000	0.53966	0.654000	0.38779	4.957000	0.63652	2.636000	0.89361	0.655000	0.94253	GGA	TMC7	-	NULL	ENSG00000170537		0.502	TMC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	TMC7	HGNC	protein_coding	OTTHUMT00000254276.3	57	0.00	0	G	NM_024847		19070770	19070770	+1	no_errors	ENST00000304381	ensembl	human	known	69_37n	missense	65	29.35	27	SNP	1.000	A
WBSCR17	64409	genome.wustl.edu	37	7	71175847	71175847	+	Silent	SNP	G	G	T			TCGA-E9-A1RA-01A-11D-A14G-09	TCGA-E9-A1RA-10A-01D-A14G-09	G	G					Unknown	Untested	Somatic	Phase_IV	WXS	none	1		Illumina GAIIx	6d067461-2002-468e-934d-2721f6cb97ff	6bc8e5c1-4fdf-4c35-a8db-0a5957be4e05	g.chr7:71175847G>T	ENST00000333538.5	+	10	2236	c.1602G>T	c.(1600-1602)cgG>cgT	p.R534R	WBSCR17_ENST00000498380.2_3'UTR	NM_022479.1	NP_071924.1	Q6IS24	GLTL3_HUMAN	Williams-Beuren syndrome chromosome region 17	534	Ricin B-type lectin. {ECO:0000255|PROSITE-ProRule:PRU00174}.				protein glycosylation (GO:0006486)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			NS(5)|breast(2)|central_nervous_system(1)|endometrium(7)|kidney(7)|large_intestine(22)|lung(45)|ovary(2)|pancreas(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	100		all_cancers(73;0.2)|Lung NSC(55;0.094)|all_lung(88;0.125)				CCAAGAGTCGGCTGCCCCAGC	0.612																																						dbGAP											0													60.0	57.0	58.0					7																	71175847		2203	4300	6503	-	-	-	SO:0001819	synonymous_variant	0			AF410457	CCDS5540.1	7q11.23	2014-03-13			ENSG00000185274	ENSG00000185274		"""Glycosyltransferase family 2 domain containing"""	16347	protein-coding gene	gene with protein product	"""polypeptide N-acetylgalactosaminyltransferase-like 3"", ""polypeptide GalNAc transferase 3"""	615137				12073013, 15744064, 22787146	Standard	NM_022479		Approved	GALNTL3, GalNAc-T5L	uc003tvy.4	Q6IS24	OTTHUMG00000129783	ENST00000333538.5:c.1602G>T	7.37:g.71175847G>T			Q8NFV9|Q9NTA8	Silent	SNP	pfam_Glyco_trans_2,pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin	p.R534	ENST00000333538.5	37	c.1602	CCDS5540.1	7																																																																																			WBSCR17	-	pfam_Ricin_B_lectin,superfamily_Ricin_B_lectin,smart_Ricin_B_lectin,pfscan_Ricin_B_lectin	ENSG00000185274		0.612	WBSCR17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	WBSCR17	HGNC	protein_coding	OTTHUMT00000252006.1	14	0.00	0	G	NM_022479		71175847	71175847	+1	no_errors	ENST00000333538	ensembl	human	known	69_37n	silent	20	33.33	10	SNP	0.927	T
