#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_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	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_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	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_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	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_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	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_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_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification
MIB2	142678	broad.mit.edu	37	1	1563429	1563429	+	Missense_Mutation	SNP	G	G	A			TCGA-32-5222-01A-01D-1486-08	TCGA-32-5222-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f48abf4d-f1fb-48bf-97a1-0c38435b6af7	fd30b963-9361-4b8d-a80a-37958b0a40d5	g.chr1:1563429G>A	ENST00000357210.4	+	14	2101	c.1885G>A	c.(1885-1887)Gcc>Acc	p.A629T	MIB2_ENST00000378708.1_Missense_Mutation_p.A535T|MIB2_ENST00000355826.5_Missense_Mutation_p.A672T|MIB2_ENST00000518681.1_Missense_Mutation_p.A621T|MIB2_ENST00000378712.1_Missense_Mutation_p.A506T|MIB2_ENST00000360522.4_Missense_Mutation_p.A594T|MIB2_ENST00000378710.3_Missense_Mutation_p.A593T|MIB2_ENST00000520777.1_Missense_Mutation_p.A682T|MIB2_ENST00000504599.1_Missense_Mutation_p.A585T|MIB2_ENST00000505820.2_Missense_Mutation_p.A686T	NM_080875.2	NP_543151.2	Q96AX9	MIB2_HUMAN	mindbomb E3 ubiquitin protein ligase 2	629					Notch signaling pathway (GO:0007219)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)	early endosome (GO:0005769)|ubiquitin ligase complex (GO:0000151)	ligase activity (GO:0016874)|signal transducer activity (GO:0004871)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(5)|lung(7)|prostate(4)|upper_aerodigestive_tract(1)	18	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;6.04e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;5.26e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.54e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|STAD - Stomach adenocarcinoma(132;0.00644)|BRCA - Breast invasive adenocarcinoma(365;0.00786)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		CCTGCACTCCGCCATCTCGGC	0.652																																						uc001agg.2																			0					0						c.(1885-1887)GCC>ACC		mindbomb homolog 2							31.0	36.0	34.0					1																	1563429		2193	4293	6486	SO:0001583	missense	142678				Notch signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade	endosome	actin binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding	g.chr1:1563429G>A	AK097106	CCDS41224.1, CCDS41224.2, CCDS53261.1, CCDS53262.1, CCDS53263.1, CCDS53264.1	1p36.33	2013-01-10	2012-02-23	2005-04-01	ENSG00000197530	ENSG00000197530		"""Zinc fingers, ZZ-type"", ""Ankyrin repeat domain containing"""	30577	protein-coding gene	gene with protein product		611141	"""zinc finger, ZZ type with ankyrin repeat domain 1"", ""mindbomb homolog 2 (Drosophila)"""	ZZANK1		12761501	Standard	NM_080875		Approved	skeletrophin, ZZZ5, FLJ39787	uc001agg.3	Q96AX9	OTTHUMG00000074647	ENST00000357210.4:c.1885G>A	1.37:g.1563429G>A	ENSP00000349741:p.Ala629Thr					MIB2_uc001agh.2_Missense_Mutation_p.A615T|MIB2_uc001agi.2_Missense_Mutation_p.A625T|MIB2_uc001agj.2_Missense_Mutation_p.A470T|MIB2_uc001agk.2_Missense_Mutation_p.A564T|MIB2_uc001agl.1_Missense_Mutation_p.A585T|MIB2_uc001agm.2_Missense_Mutation_p.A506T|MIB2_uc010nyq.1_Missense_Mutation_p.A585T|MIB2_uc009vkh.2_Missense_Mutation_p.A435T|MIB2_uc001agn.2_Missense_Mutation_p.A261T|MIB2_uc001ago.2_5'Flank	p.A629T	NM_080875	NP_543151	Q96AX9	MIB2_HUMAN		Epithelial(90;5.26e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.54e-23)|GBM - Glioblastoma multiforme(42;9e-08)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|STAD - Stomach adenocarcinoma(132;0.00644)|BRCA - Breast invasive adenocarcinoma(365;0.00786)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)	14	2012	+	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;6.04e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)	629			ANK 4.		A2AGM5|A2AGM6|B3KV93|B3KVF4|B3KXY1|B4DZ57|E9PGU1|E9PHQ1|F8WA73|J3KNZ7|Q7Z437|Q8IY62|Q8N786|Q8N897|Q8N8R2|Q8N911|Q8NB36|Q8NCY1|Q8NG59|Q8NG60|Q8NG61|Q8NI59|Q8WYN1	Missense_Mutation	SNP	ENST00000357210.4	37	c.1885G>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	15.86|15.86	2.957462|2.957462	0.53400|0.53400	.|.	.|.	ENSG00000197530|ENSG00000197530	ENST00000520777;ENST00000357210;ENST00000360522;ENST00000378710;ENST00000355826;ENST00000518681;ENST00000505820;ENST00000378712;ENST00000504599;ENST00000378708|ENST00000514234	D;D;D;D;D;D;D;D;D;D|.	0.81996|.	-1.56;-1.56;-1.56;-1.56;-1.56;-1.56;-1.56;-1.56;-1.56;-1.56|.	3.68|3.68	2.75|2.75	0.32379|0.32379	Ankyrin repeat-containing domain (4);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.84005|0.84005	0.5377|0.5377	H|H	0.95645|0.95645	3.7|3.7	0.53688|0.53688	D|D	0.999973|0.999973	D;D;D;D;D;D;D|.	0.89917|.	1.0;1.0;1.0;1.0;1.0;1.0;1.0|.	D;D;D;D;D;D;D|.	0.97110|.	0.999;1.0;1.0;1.0;1.0;0.999;1.0|.	D|D	0.86184|0.86184	0.1608|0.1608	10|5	0.87932|.	D|.	0|.	-10.0427|-10.0427	10.5133|10.5133	0.44874|0.44874	0.0979:0.0:0.9021:0.0|0.0979:0.0:0.9021:0.0	.|.	594;535;506;621;682;615;629|.	Q96AX9-5;F2Z2L2;B3KXY1;E9PHQ1;E9PGU1;Q96AX9-2;Q96AX9|.	.;.;.;.;.;.;MIB2_HUMAN|.	T|H	682;629;594;593;672;621;686;506;585;535|444	ENSP00000428660:A682T;ENSP00000349741:A629T;ENSP00000353713:A594T;ENSP00000367982:A593T;ENSP00000348081:A672T;ENSP00000428264:A621T;ENSP00000426103:A686T;ENSP00000367984:A506T;ENSP00000426128:A585T;ENSP00000367980:A535T|.	ENSP00000348081:A672T|.	A|R	+|+	1|2	0|0	MIB2|MIB2	1553292|1553292	1.000000|1.000000	0.71417|0.71417	0.595000|0.595000	0.28798|0.28798	0.549000|0.549000	0.35272|0.35272	9.070000|9.070000	0.93974|0.93974	0.727000|0.727000	0.32360|0.32360	0.542000|0.542000	0.68232|0.68232	GCC|CGC		0.652	MIB2-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_080875	
ESPNP	284729	broad.mit.edu	37	1	17034125	17034126	+	RNA	INS	-	-	AGCT	rs141324796|rs79472512	byFrequency	TCGA-32-5222-01A-01D-1486-08	TCGA-32-5222-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f48abf4d-f1fb-48bf-97a1-0c38435b6af7	fd30b963-9361-4b8d-a80a-37958b0a40d5	g.chr1:17034125_17034126insAGCT	ENST00000492551.1	-	0	477_478					NR_026567.1				espin pseudogene																		CAGCAGCAGCCAGCTGAGCACC	0.718														1500	0.299521	0.1188	0.3444	5008	,	,		24180	0.4177		0.3101	False		,,,				2504	0.3793					uc001azn.1																			0					0						c.(364-366)TGGfs		RecName: Full=Espin; AltName: Full=Ectoplasmic specialization protein; AltName: Full=Autosomal recessive deafness type 36 protein;																																						284729							g.chr1:17034125_17034126insAGCT	AL035288		1p36.13	2013-05-22			ENSG00000268869	ENSG00000268869			23285	pseudogene	pseudogene						15286153	Standard	NR_026567		Approved		uc001azn.1		OTTHUMG00000000803		1.37:g.17034126_17034129dupAGCT						ESPNP_uc010ocj.1_Frame_Shift_Ins_p.W52fs	p.W122fs	NR_026567						3	478_479	-									Frame_Shift_Ins	INS	ENST00000492551.1	37	c.364_365insAGCT																																																																																					0.718	ESPNP-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000326311.1		
RCC1	1104	broad.mit.edu	37	1	28858379	28858379	+	Frame_Shift_Del	DEL	C	C	-			TCGA-32-5222-01A-01D-1486-08	TCGA-32-5222-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f48abf4d-f1fb-48bf-97a1-0c38435b6af7	fd30b963-9361-4b8d-a80a-37958b0a40d5	g.chr1:28858379delC	ENST00000373833.6	+	6	423	c.138delC	c.(136-138)ggcfs	p.G46fs	RCC1_ENST00000398958.2_Frame_Shift_Del_p.G46fs|RCC1_ENST00000373831.3_Frame_Shift_Del_p.G77fs|RCC1_ENST00000373832.1_Frame_Shift_Del_p.G46fs			P18754	RCC1_HUMAN	regulator of chromosome condensation 1	46					chromosome segregation (GO:0007059)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic nuclear division (GO:0007067)|mitotic spindle organization (GO:0007052)|positive regulation of Ran GTPase activity (GO:0032853)|regulation of mitosis (GO:0007088)|spindle assembly (GO:0051225)|viral process (GO:0016032)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|histone binding (GO:0042393)|nucleosomal DNA binding (GO:0031492)|Ran guanyl-nucleotide exchange factor activity (GO:0005087)			breast(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)	14		Colorectal(325;3.46e-05)|Lung NSC(340;0.000318)|all_lung(284;0.000434)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.00989)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)|Medulloblastoma(700;0.123)		Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|STAD - Stomach adenocarcinoma(196;0.00299)|KIRC - Kidney renal clear cell carcinoma(1967;0.0101)|BRCA - Breast invasive adenocarcinoma(304;0.022)|READ - Rectum adenocarcinoma(331;0.0649)		GCGACGTGGGCCAGCTGGGGC	0.607																																						uc001bqg.1																			0				ovary(1)	1						c.(136-138)GGCfs		regulator of chromosome condensation 1 isoform							57.0	58.0	58.0					1																	28858379		2203	4300	6503	SO:0001589	frameshift_variant	1104				cell division|chromosome segregation|G1/S transition of mitotic cell cycle|mitosis|mitotic spindle organization|regulation of mitosis|regulation of S phase of mitotic cell cycle|spindle assembly|viral reproduction	condensed nuclear chromosome|cytoplasm|nuclear chromatin|nuclear membrane|nucleoplasm	histone binding|nucleosomal DNA binding|Ran guanyl-nucleotide exchange factor activity	g.chr1:28858379delC	X12654	CCDS323.1, CCDS41295.1	1p35.3	2008-08-18	2005-05-09	2005-05-09	ENSG00000180198	ENSG00000180198			1913	protein-coding gene	gene with protein product		179710	"""chromosome condensation 1"""	CHC1		7851910	Standard	NM_001048199		Approved		uc001bqf.2	P18754	OTTHUMG00000003645	ENST00000373833.6:c.138delC	1.37:g.28858379delC	ENSP00000362939:p.Gly46fs					SNHG3-RCC1_uc001bqa.1_Frame_Shift_Del_p.G46fs|SNHG3-RCC1_uc001bqb.1_Frame_Shift_Del_p.G46fs|SNHG3-RCC1_uc001bqc.1_Frame_Shift_Del_p.G46fs|RCC1_uc001bqe.1_Frame_Shift_Del_p.G63fs|RCC1_uc001bqf.1_Frame_Shift_Del_p.G77fs	p.G46fs	NM_001269	NP_001260	P18754	RCC1_HUMAN		Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|STAD - Stomach adenocarcinoma(196;0.00299)|KIRC - Kidney renal clear cell carcinoma(1967;0.0101)|BRCA - Breast invasive adenocarcinoma(304;0.022)|READ - Rectum adenocarcinoma(331;0.0649)	3	223	+		Colorectal(325;3.46e-05)|Lung NSC(340;0.000318)|all_lung(284;0.000434)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.00989)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)|Medulloblastoma(700;0.123)	46			RCC1 1.		Q16269|Q6NT97	Frame_Shift_Del	DEL	ENST00000373833.6	37	c.138delC	CCDS323.1																																																																																				0.607	RCC1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010323.3	NM_001269	
BARHL2	343472	broad.mit.edu	37	1	91182732	91182732	+	Silent	SNP	G	G	A			TCGA-32-5222-01A-01D-1486-08	TCGA-32-5222-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f48abf4d-f1fb-48bf-97a1-0c38435b6af7	fd30b963-9361-4b8d-a80a-37958b0a40d5	g.chr1:91182732G>A	ENST00000370445.4	-	1	62	c.21C>T	c.(19-21)agC>agT	p.S7S		NM_020063.1	NP_064447.1	Q9NY43	BARH2_HUMAN	BarH-like homeobox 2	7					cell fate determination (GO:0001709)|neuron differentiation (GO:0030182)|neuron migration (GO:0001764)|positive regulation of translation (GO:0045727)|regulation of axon extension (GO:0030516)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	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)			cervix(2)|endometrium(1)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24		all_lung(203;0.0263)|Lung SC(238;0.128)		all cancers(265;0.000897)|Epithelial(280;0.00516)|OV - Ovarian serous cystadenocarcinoma(397;0.211)		AACTCGACCCGCTGGCCCCTT	0.562																																					GBM(199;3561 4100 22440)	uc001dns.2																			0				ovary(1)	1						c.(19-21)AGC>AGT		BarH-like homeobox 2							94.0	100.0	98.0					1																	91182732		2203	4300	6503	SO:0001819	synonymous_variant	343472					nucleus	sequence-specific DNA binding	g.chr1:91182732G>A	AJ251753	CCDS730.1	1p22.2	2011-07-08	2007-07-09		ENSG00000143032	ENSG00000143032		"""Homeoboxes / ANTP class : NKL subclass"""	954	protein-coding gene	gene with protein product		605212	"""BarH (Drosophila)-like 2"""				Standard	NM_020063		Approved		uc001dns.3	Q9NY43	OTTHUMG00000010020	ENST00000370445.4:c.21C>T	1.37:g.91182732G>A							p.S7S	NM_020063	NP_064447	Q9NY43	BARH2_HUMAN		all cancers(265;0.000897)|Epithelial(280;0.00516)|OV - Ovarian serous cystadenocarcinoma(397;0.211)	1	63	-		all_lung(203;0.0263)|Lung SC(238;0.128)	7					A0AVP2|Q7Z4N7	Silent	SNP	ENST00000370445.4	37	c.21C>T	CCDS730.1																																																																																				0.562	BARHL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027728.2		
NBPF9	400818	broad.mit.edu	37	1	144828704	144828704	+	Missense_Mutation	SNP	T	T	G			TCGA-32-5222-01A-01D-1486-08	TCGA-32-5222-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f48abf4d-f1fb-48bf-97a1-0c38435b6af7	fd30b963-9361-4b8d-a80a-37958b0a40d5	g.chr1:144828704T>G	ENST00000281815.8	+	13	1290	c.544T>G	c.(544-546)Tac>Gac	p.Y182D	NBPF9_ENST00000338347.4_Missense_Mutation_p.Y584D|NBPF9_ENST00000468645.1_3'UTR|NBPF9_ENST00000440491.2_3'UTR			Q3BBW0	NBPF9_HUMAN	neuroblastoma breakpoint family, member 9	842	NBPF 1. {ECO:0000255|PROSITE- ProRule:PRU00647}.					cytoplasm (GO:0005737)		p.L657L(3)|p.Y584D(1)		NS(2)|prostate(1)	3						CTTCGCCCTTTACGTGGACAA	0.438																																						uc009wig.1																			4	Substitution - coding silent(3)|Substitution - Missense(1)		prostate(4)		0						c.(2749-2751)TAC>GAC		hypothetical protein LOC400818							35.0	31.0	32.0					1																	144828704		692	1579	2271	SO:0001583	missense	400818					cytoplasm		g.chr1:144828704T>G		CCDS72895.1, CCDS72896.1	1q21.1	2013-01-17			ENSG00000168614	ENSG00000269713		"""neuroblastoma breakpoint family"""	31991	protein-coding gene	gene with protein product		613999				16079250	Standard	NM_001037675		Approved	AE01		Q3BBW0	OTTHUMG00000013845	ENST00000281815.8:c.544T>G	1.37:g.144828704T>G	ENSP00000281815:p.Tyr182Asp					NBPF9_uc010oxn.1_Missense_Mutation_p.Y815D|NBPF9_uc010oxo.1_Missense_Mutation_p.Y842D|NBPF9_uc010oxr.1_Missense_Mutation_p.Y944D|NBPF9_uc010oxt.1_Missense_Mutation_p.Y732D|NBPF9_uc001ekg.1_Missense_Mutation_p.Y244D|NBPF9_uc001ekk.1_Missense_Mutation_p.Y488D|NBPF10_uc009wir.2_Intron|NBPF9_uc010oyd.1_Missense_Mutation_p.Y244D|NBPF9_uc010oye.1_Intron|NBPF9_uc001eli.3_RNA|NBPF9_uc010oyf.1_Intron|NBPF9_uc010oyg.1_Intron|PDE4DIP_uc001elk.1_Intron|PDE4DIP_uc001ell.1_Intron|PDE4DIP_uc001elm.3_Intron|PDE4DIP_uc001eln.3_Intron|PDE4DIP_uc001elo.2_Intron|NBPF9_uc001elp.2_Missense_Mutation_p.Y577D|uc001elr.3_5'Flank	p.Y917D	NM_001037675	NP_001032764	Q3BBV1	NBPFK_HUMAN			23	2825	+			917			NBPF 7.			Missense_Mutation	SNP	ENST00000281815.8	37	c.2749T>G		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	0.001|0.001	-3.386623|-3.386623	0.00014|0.00014	.|.	.|.	ENSG00000168614|ENSG00000168614	ENST00000375552|ENST00000338347;ENST00000281815	.|T;T	.|0.04194	.|3.68;3.68	0.618|0.618	-1.24|-1.24	0.09435|0.09435	.|.	.|.	.|.	.|.	.|.	T|T	0.00384|0.00384	0.0012|0.0012	.|.	.|.	.|.	0.09310|0.09310	N|N	1|1	.|B;B;B;B;B	.|0.12013	.|0.0;0.0;0.003;0.001;0.005	.|B;B;B;B;B	.|0.15484	.|0.003;0.001;0.013;0.004;0.01	T|T	0.43114|0.43114	-0.9411|-0.9411	3|7	.|0.02654	.|T	.|1	.|.	.|.	.|.	.|.	.|.	.|648;244;815;590;657	.|Q5VTG8;A8K9F1;B4DG53;Q8IX72;Q5TB04	.|.;.;.;.;.	L|D	657|584;182	.|ENSP00000342975:Y584D;ENSP00000281815:Y182D	.|ENSP00000281815:Y182D	F|Y	+|+	3|1	2|0	NBPF9|NBPF9	143540061|143540061	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.002000|0.002000	0.02628|0.02628	-0.866000|-0.866000	0.04245|0.04245	-1.717000|-1.717000	0.01385|0.01385	-1.365000|-1.365000	0.01206|0.01206	TTT|TAC		0.438	NBPF9-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001037675	
FLG2	388698	broad.mit.edu	37	1	152325929	152325929	+	Nonsense_Mutation	SNP	G	G	A			TCGA-32-5222-01A-01D-1486-08	TCGA-32-5222-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f48abf4d-f1fb-48bf-97a1-0c38435b6af7	fd30b963-9361-4b8d-a80a-37958b0a40d5	g.chr1:152325929G>A	ENST00000388718.5	-	3	4405	c.4333C>T	c.(4333-4335)Caa>Taa	p.Q1445*	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	1445					establishment of skin barrier (GO:0061436)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCATGAGTTTGTTCTTGTGAT	0.522																																						uc001ezw.3																			0				ovary(10)|skin(5)|upper_aerodigestive_tract(1)|breast(1)	17						c.(4333-4335)CAA>TAA		filaggrin family member 2							359.0	323.0	336.0					1																	152325929		2203	4300	6503	SO:0001587	stop_gained	388698						calcium ion binding|structural molecule activity	g.chr1:152325929G>A	AY827490	CCDS30861.1	1q21.3	2013-01-10			ENSG00000143520	ENSG00000143520		"""EF-hand domain containing"""	33276	protein-coding gene	gene with protein product						12477932	Standard	NM_001014342		Approved	IFPS	uc001ezw.4	Q5D862	OTTHUMG00000012245	ENST00000388718.5:c.4333C>T	1.37:g.152325929G>A	ENSP00000373370:p.Gln1445*					uc001ezv.2_Intron	p.Q1445*	NM_001014342	NP_001014364	Q5D862	FILA2_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	4406	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		1445					Q9H4U1	Nonsense_Mutation	SNP	ENST00000388718.5	37	c.4333C>T	CCDS30861.1	.	.	.	.	.	.	.	.	.	.	G	39	7.535339	0.98345	.	.	ENSG00000143520	ENST00000388718	.	.	.	3.43	-1.06	0.10002	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.15066	T	0.55	10.2062	0.7076	0.00918	0.4693:0.2025:0.131:0.1972	.	.	.	.	X	1445	.	ENSP00000373370:Q1445X	Q	-	1	0	FLG2	150592553	0.001000	0.12720	0.000000	0.03702	0.003000	0.03518	-0.133000	0.10451	-0.285000	0.09089	0.297000	0.19635	CAA		0.522	FLG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034018.5	NM_001014342	
SPTA1	6708	broad.mit.edu	37	1	158632643	158632643	+	Missense_Mutation	SNP	C	C	G			TCGA-32-5222-01A-01D-1486-08	TCGA-32-5222-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f48abf4d-f1fb-48bf-97a1-0c38435b6af7	fd30b963-9361-4b8d-a80a-37958b0a40d5	g.chr1:158632643C>G	ENST00000368147.4	-	17	2493	c.2313G>C	c.(2311-2313)ttG>ttC	p.L771F		NM_003126.2	NP_003117.2	P02549	SPTA1_HUMAN	spectrin, alpha, erythrocytic 1	771					actin filament capping (GO:0051693)|actin filament organization (GO:0007015)|axon guidance (GO:0007411)|hemopoiesis (GO:0030097)|lymphocyte homeostasis (GO:0002260)|plasma membrane organization (GO:0007009)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of protein binding (GO:0032092)|positive regulation of T cell proliferation (GO:0042102)|regulation of cell shape (GO:0008360)	actin cytoskeleton (GO:0015629)|cuticular plate (GO:0032437)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|structural constituent of cytoskeleton (GO:0005200)			NS(3)|breast(7)|cervix(1)|endometrium(22)|kidney(9)|large_intestine(29)|liver(2)|lung(183)|ovary(5)|prostate(18)|skin(11)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(9)|urinary_tract(6)	307	all_hematologic(112;0.0378)					ATCGGCATACCAAGGACTCTT	0.468																																						uc001fst.1																			0				ovary(4)|skin(2)|upper_aerodigestive_tract(1)|breast(1)	8						c.(2311-2313)TTG>TTC		spectrin, alpha, erythrocytic 1							96.0	95.0	95.0					1																	158632643		1901	4124	6025	SO:0001583	missense	6708				actin filament capping|actin filament organization|axon guidance|regulation of cell shape	cytosol|intrinsic to internal side of plasma membrane|spectrin|spectrin-associated cytoskeleton	actin filament binding|calcium ion binding|structural constituent of cytoskeleton	g.chr1:158632643C>G	M61877	CCDS41423.1	1q21	2014-06-23	2014-06-23		ENSG00000163554	ENSG00000163554		"""EF-hand domain containing"""	11272	protein-coding gene	gene with protein product	"""elliptocytosis 2"""	182860	"""spectrin, alpha, erythrocytic 1 (elliptocytosis 2)"""				Standard	NM_003126		Approved	EL2	uc001fst.1	P02549	OTTHUMG00000019636	ENST00000368147.4:c.2313G>C	1.37:g.158632643C>G	ENSP00000357129:p.Leu771Phe						p.L771F	NM_003126	NP_003117	P02549	SPTA1_HUMAN			17	2512	-	all_hematologic(112;0.0378)		771			Spectrin 8.		Q15514|Q5VYL1|Q5VYL2|Q6LDY5	Missense_Mutation	SNP	ENST00000368147.4	37	c.2313G>C	CCDS41423.1	.	.	.	.	.	.	.	.	.	.	C	11.69	1.714007	0.30413	.	.	ENSG00000163554	ENST00000368148;ENST00000368147	T;T	0.63913	-0.07;-0.07	4.41	2.55	0.30701	.	0.000000	0.26836	N	0.022256	T	0.69433	0.3110	M	0.85462	2.755	0.42200	D	0.991763	D	0.76494	0.999	D	0.83275	0.996	T	0.71087	-0.4694	10	0.87932	D	0	.	5.9736	0.19367	0.0:0.684:0.0:0.316	.	771	P02549	SPTA1_HUMAN	F	771	ENSP00000357130:L771F;ENSP00000357129:L771F	ENSP00000357129:L771F	L	-	3	2	SPTA1	156899267	0.867000	0.29959	0.876000	0.34364	0.077000	0.17291	-0.062000	0.11674	0.495000	0.27882	0.655000	0.94253	TTG		0.468	SPTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051851.3	NM_003126	
ABL2	27	broad.mit.edu	37	1	179084044	179084044	+	Silent	SNP	G	G	A			TCGA-32-5222-01A-01D-1486-08	TCGA-32-5222-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f48abf4d-f1fb-48bf-97a1-0c38435b6af7	fd30b963-9361-4b8d-a80a-37958b0a40d5	g.chr1:179084044G>A	ENST00000502732.1	-	9	1733	c.1530C>T	c.(1528-1530)tgC>tgT	p.C510C	ABL2_ENST00000507173.1_Silent_p.C489C|ABL2_ENST00000344730.3_Silent_p.C495C|ABL2_ENST00000512653.1_Silent_p.C495C|ABL2_ENST00000408940.3_Silent_p.C474C|ABL2_ENST00000367623.4_Silent_p.C489C|ABL2_ENST00000392043.3_Silent_p.C489C|ABL2_ENST00000511413.1_Silent_p.C510C|ABL2_ENST00000504405.1_Silent_p.C474C	NM_001168236.1|NM_001168237.1|NM_001168238.1|NM_007314.3	NP_001161708.1|NP_001161709.1|NP_001161710.1|NP_009298.1	P42684	ABL2_HUMAN	ABL proto-oncogene 2, non-receptor tyrosine kinase	510	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				actin filament bundle assembly (GO:0051017)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cellular protein modification process (GO:0006464)|cellular response to retinoic acid (GO:0071300)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of neuron projection development (GO:0010976)|positive regulation of oxidoreductase activity (GO:0051353)|positive regulation of phospholipase C activity (GO:0010863)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of autophagy (GO:0010506)|regulation of cell adhesion (GO:0030155)|regulation of cell motility (GO:2000145)|regulation of endocytosis (GO:0030100)|signal transduction (GO:0007165)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)	actin filament binding (GO:0051015)|actin monomer binding (GO:0003785)|ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein kinase activity (GO:0004672)|protein tyrosine kinase activity (GO:0004713)	p.P476fs*7(1)		breast(8)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	65					Adenosine triphosphate(DB00171)|Dasatinib(DB01254)	CCTTAGGGGGGCATCCCTCAG	0.383			T	ETV6	AML																																	uc001gmj.3				Dom	yes		1	1q24-q25	27	T	v-abl Abelson murine leukemia viral oncogene homolog 2			L	ETV6		AML		1	Deletion - Frameshift(1)	p.P476fs*7(1)	ovary(1)	lung(8)|breast(3)|ovary(2)|central_nervous_system(1)	14						c.(1528-1530)TGC>TGT		arg tyrosine kinase isoform b	Adenosine triphosphate(DB00171)|Dasatinib(DB01254)						110.0	114.0	113.0					1																	179084044		2203	4300	6503	SO:0001819	synonymous_variant	27				axon guidance|cell adhesion|peptidyl-tyrosine phosphorylation|positive regulation of oxidoreductase activity|signal transduction	cytoskeleton|cytosol	ATP binding|magnesium ion binding|manganese ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding	g.chr1:179084044G>A	M14904	CCDS30947.1, CCDS41441.1, CCDS44282.1, CCDS44283.1, CCDS41441.2, CCDS53435.1, CCDS53436.1, CCDS53437.1, CCDS53438.1	1q25.2	2014-06-26	2014-06-26		ENSG00000143322	ENSG00000143322		"""SH2 domain containing"""	77	protein-coding gene	gene with protein product	"""Abelson-related gene"""	164690	"""v-abl Abelson murine leukemia viral oncogene homolog 2 (arg, Abelson-related gene)"", ""v-abl Abelson murine leukemia viral oncogene homolog 2"", ""c-abl oncogene 2, non-receptor tyrosine kinase"""	ABLL		3787260	Standard	NM_001136001		Approved	ARG	uc001gmi.4	P42684	OTTHUMG00000035199	ENST00000502732.1:c.1530C>T	1.37:g.179084044G>A						ABL2_uc010pnf.1_Silent_p.C510C|ABL2_uc010png.1_Silent_p.C489C|ABL2_uc010pnh.1_Silent_p.C489C|ABL2_uc009wxe.2_Silent_p.C489C|ABL2_uc001gmg.3_Silent_p.C495C|ABL2_uc001gmi.3_Silent_p.C495C|ABL2_uc001gmh.3_Silent_p.C474C|ABL2_uc010pne.1_Silent_p.C474C	p.C510C	NM_007314	NP_009298	P42684	ABL2_HUMAN			9	1817	-			510			Protein kinase.		A0M8X0|B7UEF2|B7UEF3|B7UEF4|B7UEF5|Q5T0X6|Q5W0C5|Q6NZY6|Q7Z301	Silent	SNP	ENST00000502732.1	37	c.1530C>T	CCDS30947.1																																																																																				0.383	ABL2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000085174.3	NM_005158	
USH2A	7399	broad.mit.edu	37	1	216256823	216256823	+	Missense_Mutation	SNP	T	T	C			TCGA-32-5222-01A-01D-1486-08	TCGA-32-5222-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f48abf4d-f1fb-48bf-97a1-0c38435b6af7	fd30b963-9361-4b8d-a80a-37958b0a40d5	g.chr1:216256823T>C	ENST00000307340.3	-	26	5659	c.5273A>G	c.(5272-5274)aAc>aGc	p.N1758S	RP11-22M7.2_ENST00000445619.1_RNA|RP11-22M7.2_ENST00000430890.1_RNA|RP11-22M7.2_ENST00000442606.1_RNA|USH2A_ENST00000366943.2_Missense_Mutation_p.N1758S|RP11-22M7.2_ENST00000446411.1_RNA	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	1758	Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)	p.N1758T(1)		NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		TCCATCTTTGTTATAAACGAA	0.303										HNSCC(13;0.011)																												uc001hku.1																			1	Substitution - Missense(1)		lung(1)	ovary(20)|upper_aerodigestive_tract(2)|skin(2)|kidney(1)|central_nervous_system(1)	26						c.(5272-5274)AAC>AGC		usherin isoform B							95.0	99.0	97.0					1																	216256823		2202	4299	6501	SO:0001583	missense	7399				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	g.chr1:216256823T>C	AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"""Fibronectin type III domain containing"""	12601	protein-coding gene	gene with protein product	"""usherin"""	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.5273A>G	1.37:g.216256823T>C	ENSP00000305941:p.Asn1758Ser	HNSCC(13;0.011)					p.N1758S	NM_206933	NP_996816	O75445	USH2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	26	5660	-			1758			Laminin G-like 2.|Extracellular (Potential).		Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	ENST00000307340.3	37	c.5273A>G	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	T	16.75	3.209532	0.58343	.	.	ENSG00000042781	ENST00000307340;ENST00000366943	T;T	0.78003	-1.14;-1.14	4.38	3.25	0.37280	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Fibronectin, type III (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.000000	0.48286	D	0.000186	T	0.77987	0.4213	L	0.33245	0.995	0.33056	D	0.53345	D	0.71674	0.998	D	0.64506	0.926	T	0.79011	-0.1977	10	0.31617	T	0.26	.	9.8214	0.40885	0.0:0.0824:0.0:0.9176	.	1758	O75445	USH2A_HUMAN	S	1758	ENSP00000305941:N1758S;ENSP00000355910:N1758S	ENSP00000305941:N1758S	N	-	2	0	USH2A	214323446	1.000000	0.71417	0.946000	0.38457	0.929000	0.56500	2.642000	0.46596	0.656000	0.30886	0.533000	0.62120	AAC		0.303	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123	
PTEN	5728	broad.mit.edu	37	10	89692902	89692902	+	Missense_Mutation	SNP	G	G	A	rs121909218		TCGA-32-5222-01A-01D-1486-08	TCGA-32-5222-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f48abf4d-f1fb-48bf-97a1-0c38435b6af7	fd30b963-9361-4b8d-a80a-37958b0a40d5	g.chr10:89692902G>A	ENST00000371953.3	+	5	1743	c.386G>A	c.(385-387)gGa>gAa	p.G129E		NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	129	Phosphatase tensin-type. {ECO:0000255|PROSITE-ProRule:PRU00590}.		G -> E (in CWS1; no lipid phosphatase activity but retains protein phosphatase activity; retains ability to inhibit focal adhesion formation). {ECO:0000269|PubMed:9140396}.|G -> R (in glioblastoma; severely reduced protein phosphatase activity; loss of phosphatase activity towards Ins(1,3,4,5)P4). {ECO:0000269|PubMed:9072974, ECO:0000269|PubMed:9331071}.		activation of mitotic anaphase-promoting complex activity (GO:0007092)|aging (GO:0007568)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|brain morphogenesis (GO:0048854)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle tissue development (GO:0048738)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|central nervous system myelin maintenance (GO:0032286)|central nervous system neuron axonogenesis (GO:0021955)|dendritic spine morphogenesis (GO:0060997)|dentate gyrus development (GO:0021542)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|innate immune response (GO:0045087)|inositol phosphate dephosphorylation (GO:0046855)|inositol phosphate metabolic process (GO:0043647)|learning or memory (GO:0007611)|locomotor rhythm (GO:0045475)|locomotory behavior (GO:0007626)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|male mating behavior (GO:0060179)|maternal behavior (GO:0042711)|memory (GO:0007613)|multicellular organismal response to stress (GO:0033555)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell aging (GO:0090344)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031658)|negative regulation of dendritic spine morphogenesis (GO:0061002)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myelination (GO:0031642)|negative regulation of organ growth (GO:0046621)|negative regulation of phagocytosis (GO:0050765)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of ribosome biogenesis (GO:0090071)|negative regulation of synaptic vesicle clustering (GO:2000808)|neuron-neuron synaptic transmission (GO:0007270)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell proliferation (GO:0008284)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|postsynaptic density assembly (GO:0097107)|prepulse inhibition (GO:0060134)|presynaptic membrane assembly (GO:0097105)|prostate gland growth (GO:0060736)|protein dephosphorylation (GO:0006470)|protein kinase B signaling (GO:0043491)|protein stabilization (GO:0050821)|regulation of B cell apoptotic process (GO:0002902)|regulation of cellular component size (GO:0032535)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of myeloid cell apoptotic process (GO:0033032)|regulation of neuron projection development (GO:0010975)|regulation of protein stability (GO:0031647)|response to arsenic-containing substance (GO:0046685)|response to ATP (GO:0033198)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse maturation (GO:0060074)|T cell receptor signaling pathway (GO:0050852)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|myelin sheath adaxonal region (GO:0035749)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)	anaphase-promoting complex binding (GO:0010997)|enzyme binding (GO:0019899)|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity (GO:0051717)|lipid binding (GO:0008289)|magnesium ion binding (GO:0000287)|PDZ domain binding (GO:0030165)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity (GO:0051800)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.0?(37)|p.?(5)|p.R55fs*1(5)|p.G129V(3)|p.K128_R130del(3)|p.G129E(2)|p.Y27fs*1(2)|p.A121_F145del(1)|p.G127fs*5(1)|p.F56fs*2(1)|p.K128fs*47(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		GCTGGAAAGGGACGAACTGGT	0.413		31	"""D, Mis, N, F, S"""		"""glioma,  prostate, endometrial"""	"""harmartoma, glioma,  prostate, endometrial"""			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)																												uc001kfb.2		31	yes	Rec	yes	"""Cowden Syndrome, Bannayan-Riley-Ruvalcaba syndrome"""	10	10q23.3	5728	D|Mis|N|F|S	phosphatase and tensin homolog gene			"""L, E, M, O"""		harmartoma|glioma| prostate|endometrial	glioma| prostate|endometrial		61	Whole gene deletion(37)|Deletion - Frameshift(10)|Substitution - Missense(5)|Unknown(5)|Deletion - In frame(4)	p.G129R(6)|p.R55fs*1(4)|p.G129*(3)|p.K128_R130del(3)|p.?(2)|p.Y27fs*1(2)|p.Y27_N212>Y(2)|p.G129V(1)|p.K128fs*47(1)|p.A121_F145del(1)|p.G129E(1)|p.G129fs*5(1)|p.G127fs*5(1)|p.G129fs*50(1)|p.F56fs*2(1)|p.G129fs*51(1)	prostate(16)|central_nervous_system(11)|endometrium(7)|lung(6)|skin(6)|ovary(5)|haematopoietic_and_lymphoid_tissue(4)|breast(3)|cervix(1)|soft_tissue(1)|urinary_tract(1)	endometrium(831)|central_nervous_system(657)|skin(121)|haematopoietic_and_lymphoid_tissue(101)|large_intestine(99)|prostate(97)|breast(73)|lung(65)|ovary(58)|thyroid(29)|stomach(29)|upper_aerodigestive_tract(25)|cervix(24)|liver(20)|vulva(17)|kidney(15)|NS(14)|soft_tissue(13)|urinary_tract(12)|eye(8)|pancreas(6)|salivary_gland(5)|bone(5)|biliary_tract(4)|autonomic_ganglia(2)|meninges(2)|testis(1)|oesophagus(1)	2334	GRCh37	CM971272	PTEN	M	rs121909218	c.(385-387)GGA>GAA		phosphatase and tensin homolog							142.0	131.0	135.0					10																	89692902		2203	4300	6503	SO:0001583	missense	5728	Proteus_syndrome|Cowden_syndrome|Juvenile_Polyposis|Hereditary_Mixed_Polyposis_Syndrome_type_1|Bannayan-Riley-Ruvalcaba_syndrome	Familial Cancer Database	Incl.: Encephalocraniocutaneous Lipomatosis, ECCL, Proteus-like s.;incl.: Juvenile Polyposis of the Stomach;HMPS1, Colorectal Adenoma Carcinoma syndrome, CRAC, CRAC1;CS, Cowden disease, Multiple Hamartoma Syndrome, incl.: Lhermitte-Duclos; part of PTEN hamartoma tumour syndrome (PHTS) / PTEN-MATCHS, Cowden-like syndrome;subset of PTEN-Hamartoma Tumor Syndrome; incl.: Ruvalcaba-Myhre-Smith s.	activation of mitotic anaphase-promoting complex activity|apoptosis|canonical Wnt receptor signaling pathway|cell proliferation|central nervous system development|induction of apoptosis|inositol phosphate dephosphorylation|negative regulation of cell migration|negative regulation of cyclin-dependent protein kinase activity involved in G1/S|negative regulation of focal adhesion assembly|negative regulation of G1/S transition of mitotic cell cycle|negative regulation of protein kinase B signaling cascade|negative regulation of protein phosphorylation|nerve growth factor receptor signaling pathway|phosphatidylinositol dephosphorylation|phosphatidylinositol-mediated signaling|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|positive regulation of sequence-specific DNA binding transcription factor activity|protein stabilization|regulation of neuron projection development|T cell receptor signaling pathway	cytosol|internal side of plasma membrane|PML body	anaphase-promoting complex binding|enzyme binding|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity|lipid binding|magnesium ion binding|PDZ domain binding|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity|phosphatidylinositol-3-phosphatase activity|protein serine/threonine phosphatase activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr10:89692902G>A	U92436	CCDS31238.1	10q23	2014-09-17	2008-07-31		ENSG00000171862	ENSG00000171862		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	9588	protein-coding gene	gene with protein product	"""mutated in multiple advanced cancers 1"""	601728		BZS, MHAM		9090379	Standard	NM_000314		Approved	MMAC1, TEP1, PTEN1	uc001kfb.3	P60484	OTTHUMG00000018688	ENST00000371953.3:c.386G>A	10.37:g.89692902G>A	ENSP00000361021:p.Gly129Glu	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)					p.G129E	NM_000314	NP_000305	P60484	PTEN_HUMAN	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)	6	1417	+		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	129		G -> E (in CD; no lipid phosphatase activity but retains protein phosphatase activity; retains ability to inhibit focal adhesion formation).|G -> R (in glioblastoma; severely reduced protein phosphatase activity; loss of phosphatase activity towards Ins(1,3,4,5)P4).	Phosphatase tensin-type.		B2R904|F2YHV0|O00633|O02679|Q6ICT7	Missense_Mutation	SNP	ENST00000371953.3	37	c.386G>A	CCDS31238.1	.	.	.	.	.	.	.	.	.	.	G	29.7	5.029016	0.93518	.	.	ENSG00000171862	ENST00000371953	D	0.85773	-2.03	5.22	5.22	0.72569	Phosphatase tensin type (1);Dual specificity phosphatase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.95357	0.8493	H	0.96691	3.865	0.80722	A	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96956	0.9698	8	.	.	.	-11.5269	18.7776	0.91918	0.0:0.0:1.0:0.0	.	129	P60484	PTEN_HUMAN	E	129	ENSP00000361021:G129E	.	G	+	2	0	PTEN	89682882	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.429000	0.97481	2.411000	0.81874	0.655000	0.94253	GGA		0.413	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049241.1	NM_000314	
UBQLN3	50613	broad.mit.edu	37	11	5529018	5529018	+	Missense_Mutation	SNP	G	G	A			TCGA-32-5222-01A-01D-1486-08	TCGA-32-5222-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f48abf4d-f1fb-48bf-97a1-0c38435b6af7	fd30b963-9361-4b8d-a80a-37958b0a40d5	g.chr11:5529018G>A	ENST00000311659.4	-	2	1918	c.1771C>T	c.(1771-1773)Ctt>Ttt	p.L591F	HBG2_ENST00000380252.1_5'Flank|HBG2_ENST00000380259.2_Intron|HBE1_ENST00000380237.1_5'Flank|AC104389.28_ENST00000415970.1_RNA	NM_017481.2	NP_059509.1	Q9H347	UBQL3_HUMAN	ubiquilin 3	591										NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(4)|prostate(1)|skin(2)	39		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GGAGGGGAAAGGAAGCCCAGC	0.527																																					Ovarian(72;684 1260 12332 41642 52180)	uc001may.1																			0				ovary(3)	3						c.(1771-1773)CTT>TTT		ubiquilin 3							64.0	67.0	66.0					11																	5529018		2201	4297	6498	SO:0001583	missense	50613							g.chr11:5529018G>A	AF230481	CCDS7758.1	11p15	2013-02-12			ENSG00000175520	ENSG00000175520		"""Ubiquilin family"""	12510	protein-coding gene	gene with protein product		605473				10831842	Standard	NM_017481		Approved	TUP-1	uc001may.1	Q9H347	OTTHUMG00000066886	ENST00000311659.4:c.1771C>T	11.37:g.5529018G>A	ENSP00000347997:p.Leu591Phe					HBG2_uc001mak.1_Intron|HBE1_uc001mam.1_5'Flank|OR51B5_uc001maq.1_5'Flank	p.L591F	NM_017481	NP_059509	Q9H347	UBQL3_HUMAN		Epithelial(150;1.74e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	2	1857	-		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)	591					Q9NRE0	Missense_Mutation	SNP	ENST00000311659.4	37	c.1771C>T	CCDS7758.1	.	.	.	.	.	.	.	.	.	.	G	0	-2.605295	0.00123	.	.	ENSG00000175520	ENST00000311659	T	0.38077	1.16	4.47	2.6	0.31112	.	0.157818	0.29892	N	0.010928	T	0.19565	0.0470	N	0.14661	0.345	0.09310	N	1	B	0.16802	0.019	B	0.14023	0.01	T	0.15723	-1.0427	10	0.54805	T	0.06	-0.1615	6.9545	0.24563	0.2091:0.0:0.7909:0.0	.	591	Q9H347	UBQL3_HUMAN	F	591	ENSP00000347997:L591F	ENSP00000347997:L591F	L	-	1	0	UBQLN3	5485594	0.634000	0.27190	0.295000	0.24960	0.076000	0.17211	3.450000	0.52957	0.635000	0.30488	-0.136000	0.14681	CTT		0.527	UBQLN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143348.1	NM_017481	
PAMR1	25891	broad.mit.edu	37	11	35454046	35454046	+	Missense_Mutation	SNP	G	G	A	rs201029324	byFrequency	TCGA-32-5222-01A-01D-1486-08	TCGA-32-5222-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f48abf4d-f1fb-48bf-97a1-0c38435b6af7	fd30b963-9361-4b8d-a80a-37958b0a40d5	g.chr11:35454046G>A	ENST00000378880.2	-	11	2466	c.2021C>T	c.(2020-2022)cCg>cTg	p.P674L	PAMR1_ENST00000378878.3_Missense_Mutation_p.P563L|PAMR1_ENST00000278360.3_Missense_Mutation_p.P691L|PAMR1_ENST00000532848.1_Missense_Mutation_p.P634L	NM_001001991.1	NP_001001991.1	Q6UXH9	PAMR1_HUMAN	peptidase domain containing associated with muscle regeneration 1	674	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(3)|upper_aerodigestive_tract(1)	26						TGCTCGTCCCGGGAAGGACAC	0.567													G|||	2	0.000399361	0.0	0.0	5008	,	,		22131	0.002		0.0	False		,,,				2504	0.0					uc001mwg.2																			0				ovary(2)	2						c.(2020-2022)CCG>CTG		regeneration associated muscle protease isoform							79.0	74.0	75.0					11																	35454046		2202	4298	6500	SO:0001583	missense	25891				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr11:35454046G>A		CCDS7898.1, CCDS31460.1, CCDS60759.1, CCDS60760.1	11p13	2009-09-30			ENSG00000149090	ENSG00000149090			24554	protein-coding gene	gene with protein product	"""regeneration-associated muscle protease"""					15111323	Standard	NM_001282675		Approved	RAMP, DKFZP586H2123	uc001mwf.3	Q6UXH9	OTTHUMG00000166328	ENST00000378880.2:c.2021C>T	11.37:g.35454046G>A	ENSP00000368158:p.Pro674Leu					PAMR1_uc001mwf.2_Missense_Mutation_p.P691L|PAMR1_uc010rew.1_Missense_Mutation_p.P563L|PAMR1_uc010rex.1_Missense_Mutation_p.P634L	p.P674L	NM_001001991	NP_001001991	Q6UXH9	PAMR1_HUMAN			11	2064	-			674			Peptidase S1.		A8MQ58|B7ZA73|Q5EBL7|Q5JPI4|Q6N062|Q71RE9|Q96JW2|Q9Y432	Missense_Mutation	SNP	ENST00000378880.2	37	c.2021C>T	CCDS31460.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	11.04	1.520960	0.27211	.	.	ENSG00000149090	ENST00000278360;ENST00000378880;ENST00000378878;ENST00000532848;ENST00000527605	D;D;D;D;D	0.92965	-3.14;-3.14;-3.14;-3.14;-3.14	5.34	4.43	0.53597	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.160972	0.56097	D	0.000034	D	0.95010	0.8385	M	0.61703	1.905	0.80722	D	1	D;D;P	0.89917	1.0;1.0;0.75	D;D;B	0.87578	0.998;0.979;0.073	D	0.95431	0.8516	10	0.87932	D	0	.	14.6299	0.68647	0.0704:0.0:0.9296:0.0	.	563;674;691	A8MQ58;Q6UXH9;Q6UXH9-2	.;PAMR1_HUMAN;.	L	691;674;563;634;651	ENSP00000278360:P691L;ENSP00000368158:P674L;ENSP00000368156:P563L;ENSP00000433868:P634L;ENSP00000432591:P651L	ENSP00000278360:P691L	P	-	2	0	PAMR1	35410622	0.999000	0.42202	0.731000	0.30826	0.009000	0.06853	2.764000	0.47613	1.398000	0.46701	-0.221000	0.12465	CCG		0.567	PAMR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389177.1	NM_015430	
ALX4	60529	broad.mit.edu	37	11	44331575	44331575	+	Missense_Mutation	SNP	G	G	A			TCGA-32-5222-01A-01D-1486-08	TCGA-32-5222-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f48abf4d-f1fb-48bf-97a1-0c38435b6af7	fd30b963-9361-4b8d-a80a-37958b0a40d5	g.chr11:44331575G>A	ENST00000329255.3	-	1	141	c.38C>T	c.(37-39)cCg>cTg	p.P13L		NM_021926.3	NP_068745.2	Q9H161	ALX4_HUMAN	ALX homeobox 4	13					anterior/posterior pattern specification (GO:0009952)|digestive tract development (GO:0048565)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic skeletal system morphogenesis (GO:0048704)|hair follicle development (GO:0001942)|muscle organ development (GO:0007517)|palate development (GO:0060021)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|post-embryonic development (GO:0009791)|regulation of apoptotic process (GO:0042981)|skeletal system development (GO:0001501)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(10)|prostate(1)|upper_aerodigestive_tract(1)	16						GGCAGCGGCCGGCGACTCGCA	0.682																																						uc001myb.2																			0					0						c.(37-39)CCG>CTG		aristaless-like homeobox 4							10.0	13.0	12.0					11																	44331575		2197	4288	6485	SO:0001583	missense	60529				hair follicle development			g.chr11:44331575G>A	AF294629	CCDS31468.1	11p11.2	2011-06-20	2008-11-04		ENSG00000052850	ENSG00000052850		"""Homeoboxes / PRD class"""	450	protein-coding gene	gene with protein product		605420	"""parietal foramina 2"", ""aristaless-like homeobox 4"""	PFM2		11017806, 8644736	Standard	NM_021926		Approved	FPP, PFM, KIAA1788	uc001myb.3	Q9H161	OTTHUMG00000166557	ENST00000329255.3:c.38C>T	11.37:g.44331575G>A	ENSP00000332744:p.Pro13Leu						p.P13L	NM_021926	NP_068745	Q9H161	ALX4_HUMAN			1	142	-			13					Q96JN7|Q9H198|Q9HAY9	Missense_Mutation	SNP	ENST00000329255.3	37	c.38C>T	CCDS31468.1	.	.	.	.	.	.	.	.	.	.	g	27.6	4.848158	0.91277	.	.	ENSG00000052850	ENST00000329255	D	0.91407	-2.84	4.55	4.55	0.56014	.	0.095220	0.44688	D	0.000436	D	0.83746	0.5321	N	0.19112	0.55	0.47949	D	0.999559	B	0.30211	0.273	B	0.20184	0.028	D	0.83812	0.0242	10	0.72032	D	0.01	.	17.3276	0.87253	0.0:0.0:1.0:0.0	.	13	Q9H161	ALX4_HUMAN	L	13	ENSP00000332744:P13L	ENSP00000332744:P13L	P	-	2	0	ALX4	44288151	1.000000	0.71417	1.000000	0.80357	0.862000	0.49288	4.075000	0.57584	2.073000	0.62155	0.401000	0.26515	CCG		0.682	ALX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390399.1		
SLC22A11	55867	broad.mit.edu	37	11	64335161	64335161	+	Silent	SNP	C	C	T			TCGA-32-5222-01A-01D-1486-08	TCGA-32-5222-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f48abf4d-f1fb-48bf-97a1-0c38435b6af7	fd30b963-9361-4b8d-a80a-37958b0a40d5	g.chr11:64335161C>T	ENST00000301891.4	+	7	1523	c.1149C>T	c.(1147-1149)gcC>gcT	p.A383A	SLC22A11_ENST00000377581.3_Silent_p.A383A|SLC22A11_ENST00000377585.3_Intron	NM_018484.2	NP_060954.1	Q9NSA0	S22AB_HUMAN	solute carrier family 22 (organic anion/urate transporter), member 11	383					organic anion transport (GO:0015711)|transmembrane transport (GO:0055085)|urate metabolic process (GO:0046415)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)|organic anion transmembrane transporter activity (GO:0008514)|sodium-independent organic anion transmembrane transporter activity (GO:0015347)			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(2)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	23					Aminohippurate(DB00345)|Aspartame(DB00168)|Benzylpenicillin(DB01053)|Bumetanide(DB00887)|Cefalotin(DB00456)|Cefamandole(DB01326)|Cefazolin(DB01327)|Cefoperazone(DB01329)|Cefotaxime(DB00493)|Ceftriaxone(DB01212)|Cimetidine(DB00501)|Conjugated Estrogens(DB00286)|Diclofenac(DB00586)|Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Doxycycline(DB00254)|Estradiol(DB00783)|Furosemide(DB00695)|Ibuprofen(DB01050)|Indomethacin(DB00328)|Ketoprofen(DB01009)|Methotrexate(DB00563)|Minocycline(DB01017)|Novobiocin(DB01051)|Oxytetracycline(DB00595)|Phenylbutazone(DB00812)|Piroxicam(DB00554)|Pravastatin(DB00175)|Probenecid(DB01032)|Salicylic acid(DB00936)|Tetracycline(DB00759)|Zidovudine(DB00495)	TCTTCGGGGCCGTGGACTTCC	0.642																																						uc001oai.2																			0				ovary(1)|central_nervous_system(1)	2						c.(1147-1149)GCC>GCT		solute carrier family 22 member 11	Probenecid(DB01032)						53.0	61.0	59.0					11																	64335161		2201	4297	6498	SO:0001819	synonymous_variant	55867				urate metabolic process	apical plasma membrane|external side of plasma membrane|integral to plasma membrane	inorganic anion exchanger activity|protein binding|sodium-independent organic anion transmembrane transporter activity	g.chr11:64335161C>T	AB026116	CCDS8074.1	11q13.3	2013-05-22	2008-01-11		ENSG00000168065	ENSG00000168065		"""Solute carriers"""	18120	protein-coding gene	gene with protein product		607097				10660625, 15576633, 17229912	Standard	NM_018484		Approved	OAT4	uc001oai.3	Q9NSA0	OTTHUMG00000045142	ENST00000301891.4:c.1149C>T	11.37:g.64335161C>T						SLC22A11_uc001oaj.2_Silent_p.A383A|SLC22A11_uc009ypq.2_Intron	p.A383A	NM_018484	NP_060954	Q9NSA0	S22AB_HUMAN			7	1523	+			383			Helical; (Potential).		A8K426|Q53GR2|Q6ZP72|Q8NBU4	Silent	SNP	ENST00000301891.4	37	c.1149C>T	CCDS8074.1																																																																																				0.642	SLC22A11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000104886.4	NM_018484	
PIH1D2	120379	broad.mit.edu	37	11	111943820	111943820	+	Missense_Mutation	SNP	G	G	A			TCGA-32-5222-01A-01D-1486-08	TCGA-32-5222-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f48abf4d-f1fb-48bf-97a1-0c38435b6af7	fd30b963-9361-4b8d-a80a-37958b0a40d5	g.chr11:111943820G>A	ENST00000280350.4	-	2	301	c.79C>T	c.(79-81)Cct>Tct	p.P27S	PIH1D2_ENST00000431456.1_Missense_Mutation_p.P27S|PIH1D2_ENST00000528775.1_Missense_Mutation_p.P27S|PIH1D2_ENST00000521853.2_5'Flank|C11orf57_ENST00000530104.1_5'Flank|C11orf57_ENST00000393047.3_5'Flank|C11orf57_ENST00000280352.9_5'Flank|C11orf57_ENST00000532163.1_5'Flank|PIH1D2_ENST00000530641.1_Missense_Mutation_p.P27S|PIH1D2_ENST00000532211.1_Missense_Mutation_p.P27S|C11orf57_ENST00000420986.2_5'Flank	NM_138789.3	NP_620144.1	Q8WWB5	PIHD2_HUMAN	PIH1 domain containing 2	27										endometrium(2)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	11		all_cancers(61;1.09e-14)|all_epithelial(67;7.64e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)		Epithelial(105;3.19e-07)|BRCA - Breast invasive adenocarcinoma(274;6.17e-07)|all cancers(92;6.18e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0508)		TAGCCCTCAGGGTCACTCTGA	0.463																																						uc001pmq.3																			0				ovary(1)	1						c.(79-81)CCT>TCT		PIH1 domain containing 2 isoform 1							107.0	99.0	101.0					11																	111943820		2201	4297	6498	SO:0001583	missense	120379							g.chr11:111943820G>A	BC019238	CCDS8355.1, CCDS44730.1	11q23.1	2007-01-31			ENSG00000150773	ENSG00000150773			25210	protein-coding gene	gene with protein product						12477932	Standard	NM_138789		Approved		uc001pmp.4	Q8WWB5	OTTHUMG00000166925	ENST00000280350.4:c.79C>T	11.37:g.111943820G>A	ENSP00000280350:p.Pro27Ser					PIH1D2_uc009yyl.2_Missense_Mutation_p.P27S|PIH1D2_uc001pmp.3_Missense_Mutation_p.P27S|PIH1D2_uc010rws.1_Missense_Mutation_p.P27S|C11orf57_uc001pmu.2_5'Flank|C11orf57_uc001pmw.3_5'Flank|C11orf57_uc001pmt.3_5'Flank|C11orf57_uc001pmr.3_5'Flank|C11orf57_uc001pmv.3_5'Flank|C11orf57_uc001pms.3_5'Flank	p.P27S	NM_138789	NP_620144	Q8WWB5	PIHD2_HUMAN		Epithelial(105;3.19e-07)|BRCA - Breast invasive adenocarcinoma(274;6.17e-07)|all cancers(92;6.18e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.0508)	2	161	-		all_cancers(61;1.09e-14)|all_epithelial(67;7.64e-09)|Melanoma(852;1.91e-06)|all_hematologic(158;0.000405)|Acute lymphoblastic leukemia(157;0.000967)|Breast(348;0.0112)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)	27					B4DU48|E9PD82	Missense_Mutation	SNP	ENST00000280350.4	37	c.79C>T	CCDS8355.1	.	.	.	.	.	.	.	.	.	.	G	23.5	4.419320	0.83559	.	.	ENSG00000150773	ENST00000528775;ENST00000431456;ENST00000532211;ENST00000280350;ENST00000530641	T;T;T;T;T	0.67865	-0.29;-0.29;0.25;0.25;-0.16	4.97	4.97	0.65823	.	0.000000	0.85682	D	0.000000	T	0.81809	0.4901	M	0.74546	2.27	0.58432	D	0.999997	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.83501	0.0075	10	0.72032	D	0.01	-11.8625	17.5246	0.87796	0.0:0.0:1.0:0.0	.	27;27;27	B4DU48;E9PD82;Q8WWB5	.;.;PIHD2_HUMAN	S	27	ENSP00000434275:P27S;ENSP00000388209:P27S;ENSP00000431841:P27S;ENSP00000280350:P27S;ENSP00000431147:P27S	ENSP00000280350:P27S	P	-	1	0	PIH1D2	111449030	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	5.896000	0.69822	2.748000	0.94277	0.655000	0.94253	CCT		0.463	PIH1D2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391916.1	NM_138789	
ST14	6768	broad.mit.edu	37	11	130064098	130064098	+	Missense_Mutation	SNP	C	C	A	rs374923955		TCGA-32-5222-01A-01D-1486-08	TCGA-32-5222-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f48abf4d-f1fb-48bf-97a1-0c38435b6af7	fd30b963-9361-4b8d-a80a-37958b0a40d5	g.chr11:130064098C>A	ENST00000278742.5	+	8	1348	c.930C>A	c.(928-930)aaC>aaA	p.N310K		NM_021978.3	NP_068813.1	Q9Y5Y6	ST14_HUMAN	suppression of tumorigenicity 14 (colon carcinoma)	310	CUB 1. {ECO:0000255|PROSITE- ProRule:PRU00059}.				keratinocyte differentiation (GO:0030216)|proteolysis (GO:0006508)	basolateral plasma membrane (GO:0016323)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of plasma membrane (GO:0019897)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(12)|ovary(3)|pancreas(2)|prostate(1)|skin(3)	32	all_hematologic(175;0.0429)	Lung NSC(97;0.000602)|Breast(109;0.000962)|all_lung(97;0.00126)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.0183)|Lung(977;0.228)	Urokinase(DB00013)	CCTCCCAGAACGTCCTGCTCA	0.587																																						uc001qfw.2																			0				ovary(2)|skin(2)|central_nervous_system(1)	5						c.(928-930)AAC>AAA		matriptase	Urokinase(DB00013)						146.0	125.0	132.0					11																	130064098		2201	4297	6498	SO:0001583	missense	6768				proteolysis	integral to plasma membrane	serine-type endopeptidase activity	g.chr11:130064098C>A	AF118224	CCDS8487.1	11q24-q25	2011-08-31	2005-11-19		ENSG00000149418	ENSG00000149418		"""Serine peptidases / Transmembrane"""	11344	protein-coding gene	gene with protein product	"""epithin"", ""matriptase"""	606797		PRSS14		9925927, 10373424	Standard	NM_021978		Approved	SNC19, HAI, MT-SP1, TMPRSS14	uc001qfw.3	Q9Y5Y6	OTTHUMG00000165768	ENST00000278742.5:c.930C>A	11.37:g.130064098C>A	ENSP00000278742:p.Asn310Lys					ST14_uc010sca.1_Missense_Mutation_p.N120K	p.N310K	NM_021978	NP_068813	Q9Y5Y6	ST14_HUMAN		OV - Ovarian serous cystadenocarcinoma(99;0.0183)|Lung(977;0.228)	8	1123	+	all_hematologic(175;0.0429)	Lung NSC(97;0.000602)|Breast(109;0.000962)|all_lung(97;0.00126)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)	310			Extracellular (Potential).|CUB 1.		Q9BS01|Q9H3S0|Q9HB36|Q9HCA3	Missense_Mutation	SNP	ENST00000278742.5	37	c.930C>A	CCDS8487.1	.	.	.	.	.	.	.	.	.	.	C	19.31	3.803150	0.70682	.	.	ENSG00000149418	ENST00000278742;ENST00000525779	T	0.45276	0.9	5.04	-1.35	0.09114	CUB (5);	0.386006	0.18719	N	0.133096	T	0.64638	0.2616	M	0.91818	3.245	0.58432	D	0.999998	D;D	0.71674	0.997;0.998	D;D	0.68039	0.933;0.955	T	0.66893	-0.5808	10	0.72032	D	0.01	.	9.9178	0.41446	0.0:0.4958:0.0:0.5042	.	120;310	B4DYI7;Q9Y5Y6	.;ST14_HUMAN	K	310;212	ENSP00000278742:N310K	ENSP00000278742:N310K	N	+	3	2	ST14	129569308	0.033000	0.19621	0.849000	0.33467	0.969000	0.65631	-0.795000	0.04580	-0.489000	0.06716	0.555000	0.69702	AAC		0.587	ST14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386119.1		
C3AR1	719	broad.mit.edu	37	12	8212173	8212173	+	Silent	SNP	C	C	T	rs138822577		TCGA-32-5222-01A-01D-1486-08	TCGA-32-5222-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f48abf4d-f1fb-48bf-97a1-0c38435b6af7	fd30b963-9361-4b8d-a80a-37958b0a40d5	g.chr12:8212173C>T	ENST00000307637.4	-	2	812	c.609G>A	c.(607-609)ccG>ccA	p.P203P		NM_004054.2	NP_004045.1	Q16581	C3AR_HUMAN	complement component 3a receptor 1	203				P -> R (in Ref. 1; AAC50374). {ECO:0000305}.	blood circulation (GO:0008015)|chemotaxis (GO:0006935)|complement receptor mediated signaling pathway (GO:0002430)|G-protein coupled receptor signaling pathway (GO:0007186)|inflammatory response (GO:0006954)|metabolic process (GO:0008152)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of macrophage chemotaxis (GO:0010759)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation vascular endothelial growth factor production (GO:0010575)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	C3a anaphylatoxin receptor activity (GO:0004943)|complement component C3a receptor activity (GO:0004876)|G-protein coupled receptor activity (GO:0004930)|phosphatidylinositol phospholipase C activity (GO:0004435)			breast(1)|kidney(1)|large_intestine(7)|lung(10)|ovary(1)	20				Kidney(36;0.0893)		TTTCTCCAGGCGGCTGAACAA	0.408													C|||	2	0.000399361	0.0	0.0	5008	,	,		-128	0.0		0.0	False		,,,				2504	0.002					uc001qtv.1																			0				ovary(1)	1						c.(607-609)CCG>CCA		complement component 3a receptor 1							80.0	81.0	81.0					12																	8212173		2203	4300	6503	SO:0001819	synonymous_variant	719				blood circulation|chemotaxis|elevation of cytosolic calcium ion concentration|inflammatory response	integral to plasma membrane	C3a anaphylatoxin receptor activity|complement component C3a receptor activity|phosphatidylinositol phospholipase C activity	g.chr12:8212173C>T	U28488	CCDS8588.1	12p13.31	2012-08-10				ENSG00000171860		"""Complement system"", ""GPCR / Class A : Complement component receptors"""	1319	protein-coding gene	gene with protein product		605246				8605247	Standard	NM_004054		Approved	C3AR, AZ3B	uc001qtv.1	Q16581		ENST00000307637.4:c.609G>A	12.37:g.8212173C>T							p.P203P	NM_004054	NP_004045	Q16581	C3AR_HUMAN		Kidney(36;0.0893)	2	701	-			203	P -> R (in Ref. 1; AAC50374).		Extracellular (Potential).		O43771|Q92868	Silent	SNP	ENST00000307637.4	37	c.609G>A	CCDS8588.1																																																																																				0.408	C3AR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400254.1		
KRT8	3856	broad.mit.edu	37	12	53292563	53292563	+	Missense_Mutation	SNP	C	C	T			TCGA-32-5222-01A-01D-1486-08	TCGA-32-5222-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f48abf4d-f1fb-48bf-97a1-0c38435b6af7	fd30b963-9361-4b8d-a80a-37958b0a40d5	g.chr12:53292563C>T	ENST00000552551.1	-	7	1534	c.1102G>A	c.(1102-1104)Gcg>Acg	p.A368T	KRT8_ENST00000552150.1_Missense_Mutation_p.A396T|KRT8_ENST00000546897.1_Missense_Mutation_p.A368T|KRT8_ENST00000293308.6_Missense_Mutation_p.A368T			P05787	K2C8_HUMAN	keratin 8	368	Coil 2.|Necessary for interaction with PNN.|Rod.				cell differentiation involved in embryonic placenta development (GO:0060706)|extrinsic apoptotic signaling pathway (GO:0097191)|hepatocyte apoptotic process (GO:0097284)|response to hydrostatic pressure (GO:0051599)|response to other organism (GO:0051707)|sarcomere organization (GO:0045214)|tumor necrosis factor-mediated signaling pathway (GO:0033209)|viral process (GO:0016032)	cell-cell junction (GO:0005911)|costamere (GO:0043034)|cytoplasm (GO:0005737)|dystrophin-associated glycoprotein complex (GO:0016010)|extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)|nucleus (GO:0005634)|sarcolemma (GO:0042383)|Z disc (GO:0030018)	scaffold protein binding (GO:0097110)|structural molecule activity (GO:0005198)			endometrium(5)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|prostate(1)|skin(1)	13				BRCA - Breast invasive adenocarcinoma(357;0.108)	Tenecteplase(DB00031)	AGCTGCCGCGCCATGTCCTGC	0.637																																						uc001sbd.2																			0				ovary(1)|skin(1)	2						c.(1102-1104)GCG>ACG		keratin 8	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						74.0	74.0	74.0					12																	53292563		2203	4298	6501	SO:0001583	missense	3856				cytoskeleton organization|interspecies interaction between organisms	cytoplasm|keratin filament|nuclear matrix|nucleoplasm	protein binding|structural molecule activity	g.chr12:53292563C>T	BC000654	CCDS8841.1, CCDS58234.1	12q13.13	2013-01-16			ENSG00000170421	ENSG00000170421		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6446	protein-coding gene	gene with protein product		148060				2434381, 1705144, 16831889	Standard	NM_002273		Approved	CARD2, K8, CK8, CYK8, K2C8, KO	uc009zmk.1	P05787	OTTHUMG00000169881	ENST00000552551.1:c.1102G>A	12.37:g.53292563C>T	ENSP00000447566:p.Ala368Thr					KRT8_uc009zmj.2_Intron|KRT8_uc009zmk.1_Missense_Mutation_p.A396T|KRT8_uc009zml.1_Missense_Mutation_p.A368T|KRT8_uc009zmm.1_Missense_Mutation_p.A368T	p.A368T	NM_002273	NP_002264	P05787	K2C8_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.108)	6	1205	-			368			Necessary for interaction with PNN.|Rod.|Coil 2.		A8K4H3|B0AZN5|F8VXB4|Q14099|Q14716|Q14717|Q53GJ0|Q6DHW5|Q6GMY0|Q6P4C7|Q96J60	Missense_Mutation	SNP	ENST00000552551.1	37	c.1102G>A	CCDS8841.1	.	.	.	.	.	.	.	.	.	.	C	14.88	2.668220	0.47677	.	.	ENSG00000170421	ENST00000552551;ENST00000293308;ENST00000546897;ENST00000552150	D;D;D;D	0.88975	-2.45;-2.45;-2.45;-2.45	4.06	3.17	0.36434	Filament (1);	0.116062	0.56097	N	0.000023	D	0.89128	0.6627	M	0.81614	2.55	0.58432	D	0.999999	B;B	0.29378	0.243;0.057	B;B	0.34931	0.192;0.175	D	0.87890	0.2683	10	0.62326	D	0.03	.	10.9336	0.47233	0.0:0.9039:0.0:0.0961	.	396;368	F8VXB4;P05787	.;K2C8_HUMAN	T	368;368;368;396	ENSP00000447566:A368T;ENSP00000293308:A368T;ENSP00000447402:A368T;ENSP00000449404:A396T	ENSP00000293308:A368T	A	-	1	0	KRT8	51578830	1.000000	0.71417	0.986000	0.45419	0.399000	0.30720	2.622000	0.46427	1.007000	0.39238	0.561000	0.74099	GCG		0.637	KRT8-001	KNOWN	alternative_5_UTR|overlapping_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406385.1	NM_002273	
RPS26	6231	broad.mit.edu	37	12	56436346	56436346	+	Silent	SNP	C	C	T			TCGA-32-5222-01A-01D-1486-08	TCGA-32-5222-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f48abf4d-f1fb-48bf-97a1-0c38435b6af7	fd30b963-9361-4b8d-a80a-37958b0a40d5	g.chr12:56436346C>T	ENST00000356464.5	+	2	455	c.141C>T	c.(139-141)gcC>gcT	p.A47A	RPS26_ENST00000552361.1_Silent_p.A47A|RP11-603J24.4_ENST00000551846.1_RNA			P62854	RS26_HUMAN	ribosomal protein S26	47					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|negative regulation of RNA splicing (GO:0033119)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic small ribosomal subunit (GO:0022627)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleolus (GO:0005730)|small ribosomal subunit (GO:0015935)	mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(2)	7			OV - Ovarian serous cystadenocarcinoma(18;0.123)			TAGTGGAGGCCGCAGCAGTCA	0.557																																						uc001sjf.2																			0				breast(1)	1						c.(139-141)GCC>GCT		ribosomal protein S26							32.0	36.0	34.0					12																	56436346		2135	4183	6318	SO:0001819	synonymous_variant	6231				endocrine pancreas development|negative regulation of RNA splicing|translational elongation|translational termination|viral transcription	cytosolic small ribosomal subunit	mRNA binding|protein binding|structural constituent of ribosome	g.chr12:56436346C>T	AB007160	CCDS31832.1	12q13	2011-04-06				ENSG00000197728		"""S ribosomal proteins"""	10414	protein-coding gene	gene with protein product	"""40S ribosomal protein S26"""	603701				9582194, 8670309	Standard	NM_001029		Approved	S26	uc001sjf.3	P62854	OTTHUMG00000170139	ENST00000356464.5:c.141C>T	12.37:g.56436346C>T							p.A47A	NM_001029	NP_001020	P62854	RS26_HUMAN	OV - Ovarian serous cystadenocarcinoma(18;0.123)		2	406	+			47					P02383|P70394|Q06722|Q3MHD8|Q6IRY4	Silent	SNP	ENST00000356464.5	37	c.141C>T	CCDS31832.1																																																																																				0.557	RPS26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407616.1	NM_001029	
TSPAN8	7103	broad.mit.edu	37	12	71523126	71523126	+	Silent	SNP	T	T	C			TCGA-32-5222-01A-01D-1486-08	TCGA-32-5222-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f48abf4d-f1fb-48bf-97a1-0c38435b6af7	fd30b963-9361-4b8d-a80a-37958b0a40d5	g.chr12:71523126T>C	ENST00000393330.2	-	11	1197	c.645A>G	c.(643-645)ggA>ggG	p.G215G	TSPAN8_ENST00000247829.3_Silent_p.G215G|TSPAN8_ENST00000546561.1_Silent_p.G215G|TSPAN8_ENST00000552128.1_Silent_p.G132G			P19075	TSN8_HUMAN	tetraspanin 8	215					negative regulation of blood coagulation (GO:0030195)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|cervix(2)|kidney(1)|large_intestine(3)|lung(7)|skin(3)|urinary_tract(1)	19			LUSC - Lung squamous cell carcinoma(43;0.24)|OV - Ovarian serous cystadenocarcinoma(12;0.244)			TAACTGCCAGTCCAAATGATA	0.274																																						uc009zrt.1																			0				skin(2)|lung(1)|central_nervous_system(1)	4						c.(643-645)GGA>GGG		transmembrane 4 superfamily member 3							54.0	56.0	55.0					12																	71523126		2199	4298	6497	SO:0001819	synonymous_variant	7103				protein glycosylation	integral to membrane|lysosome	signal transducer activity	g.chr12:71523126T>C	M35252	CCDS8999.1	12q14.1-q21.1	2013-02-14	2005-03-21	2005-03-21		ENSG00000127324		"""Tetraspanins"""	11855	protein-coding gene	gene with protein product		600769	"""transmembrane 4 superfamily member 3"""	TM4SF3		2395876	Standard	NM_004616		Approved	CO-029	uc001swj.1	P19075		ENST00000393330.2:c.645A>G	12.37:g.71523126T>C						TSPAN8_uc001swk.1_Silent_p.G215G|TSPAN8_uc001swj.1_Silent_p.G215G	p.G215G	NM_004616	NP_004607	P19075	TSN8_HUMAN	LUSC - Lung squamous cell carcinoma(43;0.24)|OV - Ovarian serous cystadenocarcinoma(12;0.244)		7	807	-			215			Helical; (Potential).		B2R7T7|Q9BS78	Silent	SNP	ENST00000393330.2	37	c.645A>G	CCDS8999.1																																																																																				0.274	TSPAN8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404737.1	NM_004616	
CCDC63	160762	broad.mit.edu	37	12	111336859	111336859	+	Silent	SNP	C	C	T	rs115748204	byFrequency	TCGA-32-5222-01A-01D-1486-08	TCGA-32-5222-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f48abf4d-f1fb-48bf-97a1-0c38435b6af7	fd30b963-9361-4b8d-a80a-37958b0a40d5	g.chr12:111336859C>T	ENST00000308208.5	+	10	1514	c.1272C>T	c.(1270-1272)gaC>gaT	p.D424D	CCDC63_ENST00000545036.1_Silent_p.D384D|CCDC63_ENST00000552694.1_Silent_p.D345D	NM_152591.1	NP_689804.1	Q8NA47	CCD63_HUMAN	coiled-coil domain containing 63	424										NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(15)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(1)	39						TAAACTGTGACGCCACCAAGA	0.498													C|||	12	0.00239617	0.0008	0.0	5008	,	,		19408	0.0		0.0	False		,,,				2504	0.0112					uc001trv.1																			0				skin(6)|ovary(1)|pancreas(1)	8						c.(1270-1272)GAC>GAT		coiled-coil domain containing 63		C		1,4405	2.1+/-5.4	0,1,2202	100.0	89.0	93.0		1272	-4.7	0.8	12	dbSNP_132	93	0,8600		0,0,4300	no	coding-synonymous	CCDC63	NM_152591.1		0,1,6502	TT,TC,CC		0.0,0.0227,0.0077		424/564	111336859	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	160762							g.chr12:111336859C>T	AK093162	CCDS9151.1, CCDS66470.1, CCDS73528.1	12q24.11	2013-02-19				ENSG00000173093			26669	protein-coding gene	gene with protein product	"""outer row dynein assembly 5 homolog (Chlamydomonas)"""						Standard	NM_001286243		Approved	ODA5, FLJ35843	uc001trv.1	Q8NA47	OTTHUMG00000169534	ENST00000308208.5:c.1272C>T	12.37:g.111336859C>T						CCDC63_uc010sye.1_Silent_p.D384D|CCDC63_uc001trw.1_Silent_p.D339D	p.D424D	NM_152591	NP_689804	Q8NA47	CCD63_HUMAN			10	1467	+			424					B4DY03|Q0P603|Q6P2E1	Silent	SNP	ENST00000308208.5	37	c.1272C>T	CCDS9151.1																																																																																				0.498	CCDC63-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000404673.2	NM_152591	
USP12	219333	broad.mit.edu	37	13	27664021	27664021	+	Splice_Site	SNP	G	G	A			TCGA-32-5222-01A-01D-1486-08	TCGA-32-5222-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f48abf4d-f1fb-48bf-97a1-0c38435b6af7	fd30b963-9361-4b8d-a80a-37958b0a40d5	g.chr13:27664021G>A	ENST00000282344.6	-	6	989	c.733C>T	c.(733-735)Cgg>Tgg	p.R245W		NM_182488.3	NP_872294.2	O75317	UBP12_HUMAN	ubiquitin specific peptidase 12	245	USP.				protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type endopeptidase activity (GO:0004197)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)	p.R245W(1)		breast(3)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17		Lung SC(185;0.0161)		all cancers(112;0.0508)|GBM - Glioblastoma multiforme(144;0.168)|Epithelial(112;0.244)|OV - Ovarian serous cystadenocarcinoma(117;0.246)		TAAAATTACCGTTTGTGTGCT	0.353																																					Ovarian(37;808 911 7590 44442 44991)	uc001uqy.2																			1	Substitution - Missense(1)		breast(1)	lung(1)	1						c.(733-735)CGG>TGG		ubiquitin thiolesterase 12							61.0	60.0	60.0					13																	27664021		2203	4300	6503	SO:0001630	splice_region_variant	219333				protein deubiquitination|ubiquitin-dependent protein catabolic process		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr13:27664021G>A	AL049221	CCDS31952.1	13q12.13	2010-05-12	2005-08-08	2003-10-08	ENSG00000152484	ENSG00000152484		"""Ubiquitin-specific peptidases"""	20485	protein-coding gene	gene with protein product			"""ubiquitin specific protease 12 like 1"", ""ubiquitin specific protease 12"""	USP12L1		12838346	Standard	NM_182488		Approved		uc001uqy.3	O75317	OTTHUMG00000016626	ENST00000282344.6:c.734+1C>T	13.37:g.27664021G>A							p.R245W	NM_182488	NP_872294	O75317	UBP12_HUMAN		all cancers(112;0.0508)|GBM - Glioblastoma multiforme(144;0.168)|Epithelial(112;0.244)|OV - Ovarian serous cystadenocarcinoma(117;0.246)	6	986	-		Lung SC(185;0.0161)	245					A8K0X0|Q5VZV3|Q8TC49	Missense_Mutation	SNP	ENST00000282344.6	37	c.733C>T	CCDS31952.1	.	.	.	.	.	.	.	.	.	.	G	19.45	3.830023	0.71258	.	.	ENSG00000152484	ENST00000282344	T	0.33654	1.4	5.22	4.25	0.50352	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	0.000000	0.85682	D	0.000000	T	0.67221	0.2870	H	0.94620	3.56	0.80722	D	1	D	0.76494	0.999	D	0.76575	0.988	T	0.74954	-0.3488	10	0.87932	D	0	-5.0269	10.9344	0.47237	0.0:0.0:0.5944:0.4056	.	245	O75317	UBP12_HUMAN	W	245	ENSP00000282344:R245W	ENSP00000282344:R245W	R	-	1	2	USP12	26562021	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	4.287000	0.59001	2.615000	0.88500	0.591000	0.81541	CGG		0.353	USP12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044264.1	NM_182488	Missense_Mutation
SOHLH2	54937	broad.mit.edu	37	13	36748890	36748890	+	Missense_Mutation	SNP	C	C	T			TCGA-32-5222-01A-01D-1486-08	TCGA-32-5222-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f48abf4d-f1fb-48bf-97a1-0c38435b6af7	fd30b963-9361-4b8d-a80a-37958b0a40d5	g.chr13:36748890C>T	ENST00000379881.3	-	7	846	c.758G>A	c.(757-759)cGg>cAg	p.R253Q	CCDC169-SOHLH2_ENST00000511166.1_Missense_Mutation_p.R330Q|SOHLH2_ENST00000554962.1_Missense_Mutation_p.R330Q	NM_017826.2	NP_060296.2	Q9NX45	SOLH2_HUMAN	spermatogenesis and oogenesis specific basic helix-loop-helix 2	253					multicellular organismal development (GO:0007275)|oogenesis (GO:0048477)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.184)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;4.63e-08)|Epithelial(112;2.67e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00272)|BRCA - Breast invasive adenocarcinoma(63;0.00685)|GBM - Glioblastoma multiforme(144;0.0273)		GATTTTCTCCCGGATATATTT	0.403																																						uc001uvj.2																			0					0						c.(757-759)CGG>CAG		spermatogenesis and oogenesis specific basic							67.0	71.0	69.0					13																	36748890		2203	4300	6503	SO:0001583	missense	54937				cell differentiation|multicellular organismal development|oogenesis|regulation of transcription, DNA-dependent|spermatogenesis|transcription, DNA-dependent	nucleus	DNA binding	g.chr13:36748890C>T	AK000456	CCDS9355.1, CCDS61309.1	13q13.3	2013-05-21			ENSG00000120669	ENSG00000120669		"""Basic helix-loop-helix proteins"""	26026	protein-coding gene	gene with protein product	"""spermatogenesis associated 28"""					12477932	Standard	NM_017826		Approved	FLJ20449, TEB1, bHLHe81, SPATA28		Q9NX45	OTTHUMG00000016728	ENST00000379881.3:c.758G>A	13.37:g.36748890C>T	ENSP00000369210:p.Arg253Gln					SOHLH2_uc010tei.1_Missense_Mutation_p.R330Q	p.R253Q	NM_017826	NP_060296	Q9NX45	SOLH2_HUMAN	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;4.63e-08)|Epithelial(112;2.67e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00272)|BRCA - Breast invasive adenocarcinoma(63;0.00685)|GBM - Glioblastoma multiforme(144;0.0273)	7	847	-		Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.184)	253			Helix-loop-helix motif.		B4DX90|Q5EGC3|Q8TC74|Q96QX4	Missense_Mutation	SNP	ENST00000379881.3	37	c.758G>A	CCDS9355.1	.	.	.	.	.	.	.	.	.	.	C	13.70	2.314234	0.40996	.	.	ENSG00000120669;ENSG00000120669;ENSG00000250709	ENST00000379881;ENST00000554962;ENST00000511166	D;D;D	0.97114	-4.25;-4.25;-4.25	5.11	1.33	0.21861	Helix-loop-helix DNA-binding (4);	0.485591	0.19449	N	0.113990	D	0.87845	0.6280	N	0.03983	-0.305	0.27094	N	0.962787	P;P	0.43519	0.809;0.809	B;B	0.38020	0.263;0.263	D	0.84535	0.0635	10	0.54805	T	0.06	-10.5596	3.921	0.09244	0.1769:0.5676:0.0:0.2555	.	330;253	B4DX90;Q9NX45	.;SOLH2_HUMAN	Q	253;330;330	ENSP00000369210:R253Q;ENSP00000451542:R330Q;ENSP00000421868:R330Q	ENSP00000421868:R330Q	R	-	2	0	CCDC169-SOHLH2;SOHLH2	35646890	0.994000	0.37717	0.986000	0.45419	0.040000	0.13550	0.256000	0.18351	0.541000	0.28827	0.650000	0.86243	CGG		0.403	SOHLH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044477.2	NM_017826	
RCBTB2	1102	broad.mit.edu	37	13	49070369	49070369	+	Missense_Mutation	SNP	A	A	T			TCGA-32-5222-01A-01D-1486-08	TCGA-32-5222-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f48abf4d-f1fb-48bf-97a1-0c38435b6af7	fd30b963-9361-4b8d-a80a-37958b0a40d5	g.chr13:49070369A>T	ENST00000344532.3	-	14	1896	c.1473T>A	c.(1471-1473)aaT>aaA	p.N491K	RCBTB2_ENST00000544492.1_Missense_Mutation_p.N217K|RCBTB2_ENST00000430805.2_Missense_Mutation_p.N496K	NM_001268.2	NP_001259.1	O95199	RCBT2_HUMAN	regulator of chromosome condensation (RCC1) and BTB (POZ) domain containing protein 2	491	BTB 2. {ECO:0000255|PROSITE- ProRule:PRU00037}.				positive regulation of Ran GTPase activity (GO:0032853)	acrosomal vesicle (GO:0001669)	Ran guanyl-nucleotide exchange factor activity (GO:0005087)			breast(5)|endometrium(3)|kidney(2)|large_intestine(2)|lung(11)|ovary(2)|prostate(3)|skin(3)	31		all_cancers(8;4.86e-71)|all_epithelial(8;2.11e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;2.3e-10)|Lung NSC(96;1.07e-07)|Breast(56;1.53e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.00826)|Myeloproliferative disorder(33;0.0179)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(99;1.8e-09)|LUSC - Lung squamous cell carcinoma(3;0.116)		GAGCGATGGCATTCTCCTCGC	0.502																																						uc001vch.2																			0				ovary(2)|lung(2)|skin(1)	5						c.(1471-1473)AAT>AAA		regulator of chromosome condensation and BTB							103.0	96.0	98.0					13																	49070369		2203	4300	6503	SO:0001583	missense	1102						Ran guanyl-nucleotide exchange factor activity	g.chr13:49070369A>T	AF060219	CCDS9411.1, CCDS73570.1, CCDS73571.1, CCDS73572.1	13q14.3	2013-01-08	2005-05-09	2005-05-09	ENSG00000136161	ENSG00000136161		"""BTB/POZ domain containing"""	1914	protein-coding gene	gene with protein product		603524	"""chromosome condensation 1-like"""	CHC1L		9806834	Standard	XM_005266242		Approved		uc001vch.3	O95199	OTTHUMG00000016902	ENST00000344532.3:c.1473T>A	13.37:g.49070369A>T	ENSP00000345144:p.Asn491Lys					RCBTB2_uc010tgg.1_Missense_Mutation_p.N496K|RCBTB2_uc001vci.2_Missense_Mutation_p.N467K|RCBTB2_uc010tgh.1_Missense_Mutation_p.N217K|RCBTB2_uc001vcj.2_Missense_Mutation_p.N443K	p.N491K	NM_001268	NP_001259	O95199	RCBT2_HUMAN		GBM - Glioblastoma multiforme(99;1.8e-09)|LUSC - Lung squamous cell carcinoma(3;0.116)	14	1844	-		all_cancers(8;4.86e-71)|all_epithelial(8;2.11e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;2.3e-10)|Lung NSC(96;1.07e-07)|Breast(56;1.53e-05)|Prostate(109;0.00174)|Hepatocellular(98;0.00826)|Myeloproliferative disorder(33;0.0179)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)	491			BTB 2.		B2RDW8	Missense_Mutation	SNP	ENST00000344532.3	37	c.1473T>A	CCDS9411.1	.	.	.	.	.	.	.	.	.	.	a	13.41	2.229739	0.39399	.	.	ENSG00000136161	ENST00000344532;ENST00000450343;ENST00000452987;ENST00000430805;ENST00000544492	T;T;T	0.80033	-0.45;-0.46;-1.33	5.04	-3.57	0.04612	.	0.000000	0.85682	D	0.000000	D	0.87071	0.6086	M	0.81802	2.56	0.80722	D	1	D;D;D;D	0.89917	0.967;1.0;0.997;0.999	P;D;D;D	0.79108	0.839;0.992;0.986;0.971	D	0.86484	0.1793	10	0.87932	D	0	.	12.9276	0.58268	0.5995:0.0:0.4005:0.0	.	217;496;443;491	B4E372;B4DWG0;B3KVB1;O95199	.;.;.;RCBT2_HUMAN	K	491;443;496;496;217	ENSP00000345144:N491K;ENSP00000389910:N496K;ENSP00000443862:N217K	ENSP00000345144:N491K	N	-	3	2	RCBTB2	47968370	0.132000	0.22450	0.988000	0.46212	0.452000	0.32318	-0.336000	0.07863	-0.527000	0.06374	-2.160000	0.00327	AAT		0.502	RCBTB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044888.2	NM_001268	
PCDH17	27253	broad.mit.edu	37	13	58207833	58207833	+	Missense_Mutation	SNP	G	G	A			TCGA-32-5222-01A-01D-1486-08	TCGA-32-5222-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f48abf4d-f1fb-48bf-97a1-0c38435b6af7	fd30b963-9361-4b8d-a80a-37958b0a40d5	g.chr13:58207833G>A	ENST00000377918.3	+	1	1179	c.1153G>A	c.(1153-1155)Gga>Aga	p.G385R		NM_001040429.2	NP_001035519.1	O14917	PCD17_HUMAN	protocadherin 17	385	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.|Gly-rich.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		TGGCAAGAACGGACAGCTGCA	0.721																																					Melanoma(72;952 1291 1619 12849 33676)	uc001vhq.1																			0				ovary(3)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1)	7						c.(1153-1155)GGA>AGA		protocadherin 17 precursor							14.0	15.0	15.0					13																	58207833		2143	4245	6388	SO:0001583	missense	27253				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding	g.chr13:58207833G>A	AF029343	CCDS31986.1	13q21.1	2010-01-26			ENSG00000118946	ENSG00000118946		"""Cadherins / Protocadherins : Non-clustered"""	14267	protein-coding gene	gene with protein product		611760				10835267	Standard	NM_001040429		Approved	PCDH68, PCH68	uc001vhq.1	O14917	OTTHUMG00000016992	ENST00000377918.3:c.1153G>A	13.37:g.58207833G>A	ENSP00000367151:p.Gly385Arg					PCDH17_uc010aec.1_Missense_Mutation_p.G385R	p.G385R	NM_001040429	NP_001035519	O14917	PCD17_HUMAN		GBM - Glioblastoma multiforme(99;1.06e-05)	1	2045	+		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)	385			Extracellular (Potential).|Gly-rich.|Cadherin 4.		A8K1R5|Q5VVW9|Q5VVX0	Missense_Mutation	SNP	ENST00000377918.3	37	c.1153G>A	CCDS31986.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.189312	0.78789	.	.	ENSG00000118946	ENST00000377918	T	0.24538	1.85	5.46	5.46	0.80206	Cadherin (4);Cadherin-like (1);	0.000000	0.85682	D	0.000000	T	0.59155	0.2173	M	0.87682	2.9	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.997;0.999	T	0.64080	-0.6491	9	.	.	.	.	19.3194	0.94231	0.0:0.0:1.0:0.0	.	385;385	O14917-2;O14917	.;PCD17_HUMAN	R	385	ENSP00000367151:G385R	.	G	+	1	0	PCDH17	57105834	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	9.863000	0.99569	2.588000	0.87417	0.650000	0.86243	GGA		0.721	PCDH17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045139.1	NM_001040429	
PCDH17	27253	broad.mit.edu	37	13	58208729	58208729	+	Silent	SNP	G	G	A			TCGA-32-5222-01A-01D-1486-08	TCGA-32-5222-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f48abf4d-f1fb-48bf-97a1-0c38435b6af7	fd30b963-9361-4b8d-a80a-37958b0a40d5	g.chr13:58208729G>A	ENST00000377918.3	+	1	2075	c.2049G>A	c.(2047-2049)tcG>tcA	p.S683S		NM_001040429.2	NP_001035519.1	O14917	PCD17_HUMAN	protocadherin 17	683	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		TCATCCGCTCGGTGAGCGGAT	0.632																																					Melanoma(72;952 1291 1619 12849 33676)	uc001vhq.1																			0				ovary(3)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1)	7						c.(2047-2049)TCG>TCA		protocadherin 17 precursor							76.0	77.0	76.0					13																	58208729		2203	4300	6503	SO:0001819	synonymous_variant	27253				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding	g.chr13:58208729G>A	AF029343	CCDS31986.1	13q21.1	2010-01-26			ENSG00000118946	ENSG00000118946		"""Cadherins / Protocadherins : Non-clustered"""	14267	protein-coding gene	gene with protein product		611760				10835267	Standard	NM_001040429		Approved	PCDH68, PCH68	uc001vhq.1	O14917	OTTHUMG00000016992	ENST00000377918.3:c.2049G>A	13.37:g.58208729G>A						PCDH17_uc010aec.1_Silent_p.S683S	p.S683S	NM_001040429	NP_001035519	O14917	PCD17_HUMAN		GBM - Glioblastoma multiforme(99;1.06e-05)	1	2941	+		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)	683			Extracellular (Potential).|Cadherin 6.		A8K1R5|Q5VVW9|Q5VVX0	Silent	SNP	ENST00000377918.3	37	c.2049G>A	CCDS31986.1																																																																																				0.632	PCDH17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045139.1	NM_001040429	
AHNAK2	113146	broad.mit.edu	37	14	105417209	105417209	+	Missense_Mutation	SNP	C	C	T	rs376015261	byFrequency	TCGA-32-5222-01A-01D-1486-08	TCGA-32-5222-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f48abf4d-f1fb-48bf-97a1-0c38435b6af7	fd30b963-9361-4b8d-a80a-37958b0a40d5	g.chr14:105417209C>T	ENST00000333244.5	-	7	4698	c.4579G>A	c.(4579-4581)Gtg>Atg	p.V1527M	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	1527						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			GGGAGGCTCACGTCGGCCTCC	0.622													.|||	17	0.00339457	0.0083	0.0	5008	,	,		14708	0.005		0.0	False		,,,				2504	0.001					uc010axc.1																			0				ovary(1)	1						c.(4579-4581)GTG>ATG		AHNAK nucleoprotein 2		C	MET/VAL	14,3868		0,14,1927	130.0	100.0	109.0		4579	-0.0	0.0	14		109	0,8110		0,0,4055	no	missense	AHNAK2	NM_138420.2	21	0,14,5982	TT,TC,CC		0.0,0.3606,0.1167	benign	1527/5796	105417209	14,11978	1941	4055	5996	SO:0001583	missense	113146					nucleus		g.chr14:105417209C>T	AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"""chromosome 14 open reading frame 78"""	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.4579G>A	14.37:g.105417209C>T	ENSP00000353114:p.Val1527Met					AHNAK2_uc001ypx.2_Missense_Mutation_p.V1427M	p.V1527M	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)		7	4699	-		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	1527					Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Missense_Mutation	SNP	ENST00000333244.5	37	c.4579G>A	CCDS45177.1	.	.	.	.	.	.	.	.	.	.	c	9.419	1.082530	0.20309	0.003606	0.0	ENSG00000185567	ENST00000333244	T	0.01145	5.27	4.16	-0.0172	0.13969	.	.	.	.	.	T	0.01558	0.0050	M	0.80746	2.51	0.09310	N	1	B	0.34161	0.439	B	0.27170	0.077	T	0.40942	-0.9536	9	0.38643	T	0.18	-4.7265	2.2352	0.04006	0.2316:0.4839:0.1133:0.1712	.	1527	Q8IVF2	AHNK2_HUMAN	M	1527	ENSP00000353114:V1527M	ENSP00000353114:V1527M	V	-	1	0	AHNAK2	104488254	0.163000	0.22920	0.000000	0.03702	0.002000	0.02628	0.602000	0.24134	-0.369000	0.08028	-1.400000	0.01143	GTG		0.622	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420	
AHNAK2	113146	broad.mit.edu	37	14	105418199	105418199	+	Missense_Mutation	SNP	C	C	T	rs201140610	byFrequency	TCGA-32-5222-01A-01D-1486-08	TCGA-32-5222-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f48abf4d-f1fb-48bf-97a1-0c38435b6af7	fd30b963-9361-4b8d-a80a-37958b0a40d5	g.chr14:105418199C>T	ENST00000333244.5	-	7	3708	c.3589G>A	c.(3589-3591)Gtg>Atg	p.V1197M	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	1197						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			GGGAGACTCACGTCGGCCTCC	0.617													.|||	4	0.000798722	0.0008	0.0014	5008	,	,		17285	0.001		0.0	False		,,,				2504	0.001					uc010axc.1																			0				ovary(1)	1						c.(3589-3591)GTG>ATG		AHNAK nucleoprotein 2							133.0	122.0	125.0					14																	105418199		1954	4112	6066	SO:0001583	missense	113146					nucleus		g.chr14:105418199C>T	AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"""chromosome 14 open reading frame 78"""	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.3589G>A	14.37:g.105418199C>T	ENSP00000353114:p.Val1197Met					AHNAK2_uc001ypx.2_Missense_Mutation_p.V1097M	p.V1197M	NM_138420	NP_612429	Q8IVF2	AHNK2_HUMAN	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)		7	3709	-		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	1197					Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Missense_Mutation	SNP	ENST00000333244.5	37	c.3589G>A	CCDS45177.1	.	.	.	.	.	.	.	.	.	.	t	13.92	2.380363	0.42207	.	.	ENSG00000185567	ENST00000333244	T	0.01209	5.17	4.26	-0.976	0.10286	.	.	.	.	.	T	0.01661	0.0053	M	0.67397	2.05	0.09310	N	1	P	0.51653	0.947	P	0.44811	0.461	T	0.39583	-0.9607	9	0.48119	T	0.1	.	1.4605	0.02394	0.1364:0.4128:0.1328:0.3181	.	1197	Q8IVF2	AHNK2_HUMAN	M	1197	ENSP00000353114:V1197M	ENSP00000353114:V1197M	V	-	1	0	AHNAK2	104489244	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.067000	0.03451	-0.647000	0.05444	-0.320000	0.08662	GTG		0.617	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420	
MAP1A	4130	broad.mit.edu	37	15	43818898	43818898	+	Missense_Mutation	SNP	C	C	T	rs201586108		TCGA-32-5222-01A-01D-1486-08	TCGA-32-5222-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f48abf4d-f1fb-48bf-97a1-0c38435b6af7	fd30b963-9361-4b8d-a80a-37958b0a40d5	g.chr15:43818898C>T	ENST00000300231.5	+	4	5677	c.5227C>T	c.(5227-5229)Cgg>Tgg	p.R1743W	MAP1A_ENST00000399453.1_Missense_Mutation_p.R1743W|MAP1A_ENST00000382031.1_Missense_Mutation_p.R1981W			P78559	MAP1A_HUMAN	microtubule-associated protein 1A	1743					microtubule cytoskeleton organization (GO:0000226)|sensory perception of sound (GO:0007605)	cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)	structural molecule activity (GO:0005198)			breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.05e-06)	Estramustine(DB01196)	AGTACCCCTGCGGGAACACGC	0.597													C|||	1	0.000199681	0.0	0.0	5008	,	,		16108	0.001		0.0	False		,,,				2504	0.0					uc001zrt.2																			0				ovary(3)|breast(3)|pancreas(2)|skin(1)	9						c.(5227-5229)CGG>TGG		microtubule-associated protein 1A	Estramustine(DB01196)						53.0	56.0	55.0					15																	43818898		1927	4136	6063	SO:0001583	missense	4130					cytoplasm|microtubule|microtubule associated complex	protein binding|structural molecule activity	g.chr15:43818898C>T	U38292	CCDS42031.1	15q15.3	2006-06-15			ENSG00000166963	ENSG00000166963			6835	protein-coding gene	gene with protein product		600178		MAP1L		7806212, 7629894	Standard	XM_005254385		Approved		uc001zrt.3	P78559	OTTHUMG00000059756	ENST00000300231.5:c.5227C>T	15.37:g.43818898C>T	ENSP00000300231:p.Arg1743Trp						p.R1743W	NM_002373	NP_002364	P78559	MAP1A_HUMAN		GBM - Glioblastoma multiforme(94;3.05e-06)	4	5694	+		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)	1743					O95643|Q12973|Q15882|Q9UJT4	Missense_Mutation	SNP	ENST00000300231.5	37	c.5227C>T	CCDS42031.1	.	.	.	.	.	.	.	.	.	.	c	0.232	-1.020008	0.02078	.	.	ENSG00000166963	ENST00000382031;ENST00000399453;ENST00000300231	T;T;T	0.01430	4.9;4.91;4.91	4.28	1.19	0.21007	.	.	.	.	.	T	0.00875	0.0029	N	0.08118	0	0.09310	N	0.999999	P	0.49358	0.923	B	0.40101	0.319	T	0.52381	-0.8583	9	0.62326	D	0.03	0.6865	3.834	0.08886	0.3222:0.4554:0.0:0.2224	.	1743	P78559	MAP1A_HUMAN	W	1981;1743;1743	ENSP00000371462:R1981W;ENSP00000382380:R1743W;ENSP00000300231:R1743W	ENSP00000300231:R1743W	R	+	1	2	MAP1A	41606190	0.000000	0.05858	0.026000	0.17262	0.007000	0.05969	-0.732000	0.04904	0.051000	0.15978	-0.535000	0.04281	CGG		0.597	MAP1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000132894.5	NM_002373	
BNC1	646	broad.mit.edu	37	15	83935703	83935703	+	Missense_Mutation	SNP	C	C	T			TCGA-32-5222-01A-01D-1486-08	TCGA-32-5222-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f48abf4d-f1fb-48bf-97a1-0c38435b6af7	fd30b963-9361-4b8d-a80a-37958b0a40d5	g.chr15:83935703C>T	ENST00000345382.2	-	3	405	c.320G>A	c.(319-321)cGc>cAc	p.R107H	RP11-382A20.4_ENST00000565495.1_RNA|BNC1_ENST00000569704.1_Missense_Mutation_p.R100H	NM_001717.3	NP_001708.3	Q01954	BNC1_HUMAN	basonuclin 1	107					chromosome organization (GO:0051276)|epidermis development (GO:0008544)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|regulation of transcription from RNA polymerase I promoter (GO:0006356)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(17)|lung(18)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	56						GATTTTTAGGCGAACGGGGAT	0.507																																						uc002bjt.1																			0		p.R107C(1)		ovary(3)	3						c.(319-321)CGC>CAC		basonuclin 1							107.0	100.0	102.0					15																	83935703		2203	4300	6503	SO:0001583	missense	646				epidermis development|positive regulation of cell proliferation	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr15:83935703C>T	L03427	CCDS10324.1, CCDS73771.1	15q25.1	2013-05-20	2004-04-30	2004-05-04	ENSG00000169594	ENSG00000169594		"""Zinc fingers, C2H2-type"""	1081	protein-coding gene	gene with protein product		601930	"""basonuclin"""	BNC		1332044	Standard	NM_001717		Approved	HsT19447	uc002bjt.1	Q01954	OTTHUMG00000147362	ENST00000345382.2:c.320G>A	15.37:g.83935703C>T	ENSP00000307041:p.Arg107His					BNC1_uc010uos.1_Missense_Mutation_p.R95H	p.R107H	NM_001717	NP_001708	Q01954	BNC1_HUMAN			3	408	-			107					Q15840	Missense_Mutation	SNP	ENST00000345382.2	37	c.320G>A	CCDS10324.1	.	.	.	.	.	.	.	.	.	.	C	34	5.412924	0.96072	.	.	ENSG00000169594	ENST00000345382;ENST00000541809	D	0.86694	-2.16	5.51	5.51	0.81932	.	0.000000	0.85682	D	0.000000	D	0.93556	0.7943	M	0.76328	2.33	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	D	0.93593	0.6923	10	0.87932	D	0	-34.9268	19.614	0.95622	0.0:1.0:0.0:0.0	.	100;107	F5GY04;Q01954	.;BNC1_HUMAN	H	107;100	ENSP00000307041:R107H	ENSP00000307041:R107H	R	-	2	0	BNC1	81726707	1.000000	0.71417	1.000000	0.80357	0.918000	0.54935	7.573000	0.82421	2.873000	0.98535	0.561000	0.74099	CGC		0.507	BNC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000304006.1	NM_001717	
PCSK6	5046	broad.mit.edu	37	15	101929721	101929721	+	Missense_Mutation	SNP	A	A	G			TCGA-32-5222-01A-01D-1486-08	TCGA-32-5222-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f48abf4d-f1fb-48bf-97a1-0c38435b6af7	fd30b963-9361-4b8d-a80a-37958b0a40d5	g.chr15:101929721A>G	ENST00000348070.1	-	10	1254	c.1255T>C	c.(1255-1257)Tca>Cca	p.S419P	PCSK6_ENST00000358417.3_Missense_Mutation_p.S419P|PCSK6_ENST00000344273.2_Missense_Mutation_p.S419P|PCSK6_ENST00000398181.2_Missense_Mutation_p.S419P|PCSK6_ENST00000561177.1_5'UTR|PCSK6_ENST00000331826.7_Missense_Mutation_p.S254P	NM_002570.3|NM_138320.1	NP_002561.1|NP_612193.1	P29122	PCSK6_HUMAN	proprotein convertase subtilisin/kexin type 6	420	Peptidase S8.				determination of left/right symmetry (GO:0007368)|glycoprotein metabolic process (GO:0009100)|nerve growth factor processing (GO:0032455)|nerve growth factor production (GO:0032902)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptide hormone processing (GO:0016486)|protein processing (GO:0016485)|regulation of BMP signaling pathway (GO:0030510)|secretion by cell (GO:0032940)|zygotic determination of anterior/posterior axis, embryo (GO:0007354)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|membrane (GO:0016020)	endopeptidase activity (GO:0004175)|heparin binding (GO:0008201)|nerve growth factor binding (GO:0048406)|serine-type endopeptidase activity (GO:0004252)			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Lung NSC(78;0.00102)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000803)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			GCAGAGACTGAGGTCCCAGTG	0.517																																						uc002bwy.2																			0				pancreas(2)	2						c.(1258-1260)TCA>CCA		paired basic amino acid cleaving system 4							74.0	82.0	79.0					15																	101929721		2108	4236	6344	SO:0001583	missense	5046				glycoprotein metabolic process|nerve growth factor processing|nerve growth factor production|nerve growth factor receptor signaling pathway|regulation of BMP signaling pathway|secretion by cell	cell surface|endomembrane system|endoplasmic reticulum|extracellular matrix|extracellular space|Golgi lumen|membrane|soluble fraction	eukaryotic cell surface binding|heparin binding|nerve growth factor binding|serine-type endopeptidase activity	g.chr15:101929721A>G		CCDS73789.1, CCDS73790.1, CCDS73791.1, CCDS73792.1, CCDS73793.1	15q26	2008-07-18	2004-06-14	2004-06-16		ENSG00000140479			8569	protein-coding gene	gene with protein product	"""subtilisin-like protease"", ""subtilisin-like proprotein convertase 4"", ""subtilisin/kexin-like protease PACE4"""	167405	"""paired basic amino acid cleaving system 4"""	PACE4		1741956	Standard	NM_002570		Approved	SPC4	uc002bwy.3	P29122		ENST00000348070.1:c.1255T>C	15.37:g.101929721A>G	ENSP00000305056:p.Ser419Pro					PCSK6_uc010bpd.2_Missense_Mutation_p.S290P|PCSK6_uc010bpe.2_Missense_Mutation_p.S420P|PCSK6_uc002bxa.2_Missense_Mutation_p.S420P|PCSK6_uc002bxb.2_Missense_Mutation_p.S420P|PCSK6_uc002bxc.1_Missense_Mutation_p.S420P|PCSK6_uc002bxd.1_Missense_Mutation_p.S420P|PCSK6_uc002bxe.2_Missense_Mutation_p.S420P|PCSK6_uc002bxg.1_Missense_Mutation_p.S420P	p.S420P	NM_002570	NP_002561	P29122	PCSK6_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.000803)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)		10	1572	-	Lung NSC(78;0.00102)|all_lung(78;0.00128)|Melanoma(26;0.00505)		420			Catalytic.	Charge relay system (By similarity).	Q15099|Q15100|Q9UEG7|Q9UEJ1|Q9UEJ2|Q9UEJ7|Q9UEJ8|Q9UEJ9|Q9Y4G9|Q9Y4H0|Q9Y4H1	Missense_Mutation	SNP	ENST00000348070.1	37	c.1258T>C		.	.	.	.	.	.	.	.	.	.	A	27.2	4.812100	0.90707	.	.	ENSG00000140479	ENST00000348070;ENST00000358417;ENST00000398185;ENST00000344273;ENST00000398181;ENST00000331826	D;D;D;D;D;D	0.98012	-4.66;-4.66;-1.73;-4.66;-4.66;-4.66	5.74	5.74	0.90152	Peptidase S8/S53, subtilisin/kexin/sedolisin (3);	0.000000	0.85682	D	0.000000	D	0.99426	0.9797	H	0.99783	4.775	0.80722	D	1	D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D;D	0.91635	0.999;0.999;0.998;0.994;0.994;0.997;0.998;0.994;0.997	D	0.97912	1.0309	10	0.87932	D	0	-12.0768	15.218	0.73285	1.0:0.0:0.0:0.0	.	420;325;419;420;419;419;420;420;419	P29122;Q59H04;E7EUC8;P29122-4;E7EWH5;E7EQ62;P29122-8;P29122-7;E7EM82	PCSK6_HUMAN;.;.;.;.;.;.;.;.	P	419;419;324;419;419;254	ENSP00000305056:S419P;ENSP00000351193:S419P;ENSP00000381246:S324P;ENSP00000344410:S419P;ENSP00000381243:S419P;ENSP00000332052:S254P	ENSP00000332052:S254P	S	-	1	0	PCSK6	99747244	1.000000	0.71417	0.996000	0.52242	0.781000	0.44180	9.181000	0.94874	2.183000	0.69458	0.533000	0.62120	TCA		0.517	PCSK6-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_002570	
TBL3	10607	broad.mit.edu	37	16	2025082	2025082	+	Silent	SNP	C	C	T	rs199830238		TCGA-32-5222-01A-01D-1486-08	TCGA-32-5222-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f48abf4d-f1fb-48bf-97a1-0c38435b6af7	fd30b963-9361-4b8d-a80a-37958b0a40d5	g.chr16:2025082C>T	ENST00000568546.1	+	7	746	c.618C>T	c.(616-618)gaC>gaT	p.D206D		NM_006453.2	NP_006444.2	Q12788	TBL3_HUMAN	transducin (beta)-like 3	206					G-protein coupled receptor signaling pathway coupled to cGMP nucleotide second messenger (GO:0007199)|intracellular signal transduction (GO:0035556)|rRNA processing (GO:0006364)	nucleolus (GO:0005730)|nucleus (GO:0005634)|small-subunit processome (GO:0032040)	poly(A) RNA binding (GO:0044822)|receptor signaling protein activity (GO:0005057)			breast(1)|endometrium(2)|kidney(4)|lung(7)|ovary(1)|prostate(2)|skin(1)	18						TCAGCGCCGACGGCCACACCA	0.652													C|||	1	0.000199681	0.0	0.0	5008	,	,		18137	0.001		0.0	False		,,,				2504	0.0				Melanoma(118;616 1651 35077 38081 48633)	uc002cnu.1																			0					0						c.(616-618)GAC>GAT		transducin beta-like 3							35.0	36.0	36.0					16																	2025082		2197	4300	6497	SO:0001819	synonymous_variant	10607				G-protein signaling, coupled to cGMP nucleotide second messenger|rRNA processing	nucleolus|small-subunit processome	receptor signaling protein activity	g.chr16:2025082C>T	U02609	CCDS10453.1	16p13.3	2013-01-10			ENSG00000183751	ENSG00000183751		"""WD repeat domain containing"""	11587	protein-coding gene	gene with protein product		605915				8307582	Standard	NM_006453		Approved	SAZD, UTP13	uc002cnu.1	Q12788	OTTHUMG00000128710	ENST00000568546.1:c.618C>T	16.37:g.2025082C>T						TBL3_uc002cnv.1_Silent_p.D92D|TBL3_uc010bsb.1_Missense_Mutation_p.R21W|TBL3_uc010bsc.1_Silent_p.D92D|TBL3_uc010uvt.1_Translation_Start_Site|TBL3_uc002cnw.1_5'Flank	p.D206D	NM_006453	NP_006444	Q12788	TBL3_HUMAN			7	720	+			206			WD 4.		Q59GD6|Q8IVB7|Q96A78	Silent	SNP	ENST00000568546.1	37	c.618C>T	CCDS10453.1																																																																																				0.652	TBL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250615.3	NM_006453	
CCDC113	29070	broad.mit.edu	37	16	58287944	58287944	+	Missense_Mutation	SNP	C	C	T	rs375219394		TCGA-32-5222-01A-01D-1486-08	TCGA-32-5222-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f48abf4d-f1fb-48bf-97a1-0c38435b6af7	fd30b963-9361-4b8d-a80a-37958b0a40d5	g.chr16:58287944C>T	ENST00000219299.4	+	3	350	c.271C>T	c.(271-273)Cgt>Tgt	p.R91C	CCDC113_ENST00000443128.2_Intron	NM_014157.3	NP_054876.2	Q9H0I3	CC113_HUMAN	coiled-coil domain containing 113	91						cytoplasm (GO:0005737)|nucleus (GO:0005634)|protein complex (GO:0043234)				large_intestine(4)|lung(6)|ovary(1)|urinary_tract(1)	12						AGGTATGGACCGTGGGGTAGG	0.507																																						uc002ene.2																			0					0						c.(271-273)CGT>TGT		coiled-coil domain containing 113 isoform 1		C	,CYS/ARG	1,4395	2.1+/-5.4	0,1,2197	132.0	107.0	115.0		,271	5.4	0.0	16		115	0,8600		0,0,4300	no	intron,missense	CCDC113	NM_001142302.1,NM_014157.3	,180	0,1,6497	TT,TC,CC		0.0,0.0227,0.0077	,probably-damaging	,91/378	58287944	1,12995	2198	4300	6498	SO:0001583	missense	29070					protein complex		g.chr16:58287944C>T	AL136785	CCDS10795.1, CCDS45497.1	16q21	2008-02-05			ENSG00000103021	ENSG00000103021			25002	protein-coding gene	gene with protein product						11230166, 11042152	Standard	NM_014157		Approved	HSPC065, DKFZp434N1418	uc002ene.3	Q9H0I3	OTTHUMG00000133489	ENST00000219299.4:c.271C>T	16.37:g.58287944C>T	ENSP00000219299:p.Arg91Cys					CCDC113_uc010vid.1_Intron	p.R91C	NM_014157	NP_054876	Q9H0I3	CC113_HUMAN			3	350	+			91					B2RAQ7|B4DR20|Q9NZX2	Missense_Mutation	SNP	ENST00000219299.4	37	c.271C>T	CCDS10795.1	.	.	.	.	.	.	.	.	.	.	C	21.8	4.208932	0.79240	2.27E-4	0.0	ENSG00000103021	ENST00000219299	T	0.35605	1.3	5.4	5.4	0.78164	.	0.448237	0.26166	N	0.025950	T	0.50548	0.1622	M	0.65498	2.005	0.31311	N	0.687122	D	0.76494	0.999	P	0.54210	0.745	T	0.60984	-0.7154	10	0.72032	D	0.01	0.036	14.6729	0.68958	0.0:1.0:0.0:0.0	.	91	Q9H0I3	CC113_HUMAN	C	91	ENSP00000219299:R91C	ENSP00000219299:R91C	R	+	1	0	CCDC113	56845445	0.031000	0.19500	0.025000	0.17156	0.002000	0.02628	2.313000	0.43735	2.526000	0.85167	0.655000	0.94253	CGT		0.507	CCDC113-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257387.2	NM_014157	
FLCN	201163	broad.mit.edu	37	17	17119805	17119805	+	Missense_Mutation	SNP	C	C	T			TCGA-32-5222-01A-01D-1486-08	TCGA-32-5222-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f48abf4d-f1fb-48bf-97a1-0c38435b6af7	fd30b963-9361-4b8d-a80a-37958b0a40d5	g.chr17:17119805C>T	ENST00000285071.4	-	11	1643	c.1189G>A	c.(1189-1191)Gtg>Atg	p.V397M	RP11-45M22.4_ENST00000427497.3_3'UTR	NM_144997.5	NP_659434.2	Q8NFG4	FLCN_HUMAN	folliculin	397					cell-cell junction assembly (GO:0007043)|hemopoiesis (GO:0030097)|in utero embryonic development (GO:0001701)|negative regulation of ATP biosynthetic process (GO:2001170)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation involved in kidney development (GO:1901723)|negative regulation of energy homeostasis (GO:2000506)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of gene expression (GO:0010629)|negative regulation of mitochondrion organization (GO:0010823)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein localization to nucleus (GO:1900181)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of TOR signaling (GO:0032007)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|positive regulation of gene expression (GO:0010628)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of TOR signaling (GO:0032008)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of cytokinesis (GO:0032465)|regulation of histone acetylation (GO:0035065)|regulation of pro-B cell differentiation (GO:2000973)|regulation of protein phosphorylation (GO:0001932)|regulation of TOR signaling (GO:0032006)|TOR signaling (GO:0031929)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein complex binding (GO:0032403)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(11)|stomach(1)|thyroid(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						ACGCAGCCCACGGGAAGCATG	0.637									Familial Non-VHL Clear Cell Renal Cancer;Birt-Hogg-Dub syndrome																													uc002gra.3																			0				thyroid(1)|haematopoietic_and_lymphoid_tissue(1)|lung(1)	3						c.(1189-1191)GTG>ATG		folliculin isoform 1							83.0	61.0	68.0					17																	17119805		2203	4300	6503	SO:0001583	missense	201163	Birt-Hogg-Dub__syndrome|Familial_Non-VHL_Clear_Cell_Renal_Cancer	Familial Cancer Database	Familial Clear Cell Renal Cell Cancer, FcRCC, Familial Non-VHL Non-Papillary Clear Cell Renal Cancer;BHD, Fibrofolliculomas with Trichodiscomas and Acrochordons, incl.: Hornstein-Knickenberg syndrome, Perifollicular Fibromatosis	regulation of protein phosphorylation	cytoplasm|nucleus|plasma membrane	protein binding	g.chr17:17119805C>T	AF517523	CCDS32579.1, CCDS32580.1	17p11.2	2014-09-17			ENSG00000154803	ENSG00000154803			27310	protein-coding gene	gene with protein product		607273					Standard	NM_144997		Approved	BHD, MGC17998, MGC23445	uc002gra.4	Q8NFG4	OTTHUMG00000059275	ENST00000285071.4:c.1189G>A	17.37:g.17119805C>T	ENSP00000285071:p.Val397Met					PLD6_uc010cpn.2_RNA	p.V397M	NM_144997	NP_659434	Q8NFG4	FLCN_HUMAN			11	1693	-			397					A6NJJ8|Q6ZRX1|Q96BD2|Q96BE4	Missense_Mutation	SNP	ENST00000285071.4	37	c.1189G>A	CCDS32579.1	.	.	.	.	.	.	.	.	.	.	c	16.51	3.142127	0.57044	.	.	ENSG00000154803	ENST00000285071	D	0.92805	-3.11	5.75	5.75	0.90469	.	0.000000	0.85682	D	0.000000	D	0.88492	0.6451	L	0.47716	1.5	0.80722	D	1	B	0.28880	0.226	B	0.17098	0.017	D	0.85751	0.1343	10	0.42905	T	0.14	-37.3998	15.0876	0.72167	0.0:0.9305:0.0:0.0695	.	397	Q8NFG4	FLCN_HUMAN	M	397	ENSP00000285071:V397M	ENSP00000285071:V397M	V	-	1	0	FLCN	17060530	1.000000	0.71417	0.963000	0.40424	0.792000	0.44763	4.398000	0.59697	2.729000	0.93468	0.651000	0.88453	GTG		0.637	FLCN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131577.1	NM_144606	
KRT37	8688	broad.mit.edu	37	17	39578590	39578590	+	Missense_Mutation	SNP	G	G	A			TCGA-32-5222-01A-01D-1486-08	TCGA-32-5222-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f48abf4d-f1fb-48bf-97a1-0c38435b6af7	fd30b963-9361-4b8d-a80a-37958b0a40d5	g.chr17:39578590G>A	ENST00000225550.3	-	4	828	c.829C>T	c.(829-831)Cgg>Tgg	p.R277W	AC003958.2_ENST00000432258.1_RNA	NM_003770.4	NP_003761.3	O76014	KRT37_HUMAN	keratin 37	277	Coil 2.|Rod.					extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)	structural molecule activity (GO:0005198)			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(9)|lung(6)|skin(3)	25		Breast(137;0.000496)				TACTGAGCCCGCATCTCCCCC	0.582																																						uc002hwp.1																			0				skin(1)	1						c.(829-831)CGG>TGG		keratin 37							177.0	163.0	167.0					17																	39578590		2203	4300	6503	SO:0001583	missense	8688					intermediate filament	structural molecule activity	g.chr17:39578590G>A	Y16793	CCDS32653.1	17q21.2	2013-06-20	2006-07-17	2006-07-17	ENSG00000108417	ENSG00000108417		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	6455	protein-coding gene	gene with protein product		604541	"""keratin, hair, acidic, 7"""	KRTHA7		9756910, 16831889	Standard	NM_003770		Approved		uc002hwp.1	O76014	OTTHUMG00000133606	ENST00000225550.3:c.829C>T	17.37:g.39578590G>A	ENSP00000225550:p.Arg277Trp					uc002hwo.1_Intron	p.R277W	NM_003770	NP_003761	O76014	KRT37_HUMAN			4	876	-		Breast(137;0.000496)	277			Coil 2.|Rod.			Missense_Mutation	SNP	ENST00000225550.3	37	c.829C>T	CCDS32653.1	.	.	.	.	.	.	.	.	.	.	.	11.17	1.561214	0.27915	.	.	ENSG00000108417	ENST00000225550	D	0.93488	-3.23	4.83	-2.78	0.05859	Filament (1);	0.000000	0.45361	D	0.000369	D	0.92159	0.7514	M	0.93808	3.46	0.31200	N	0.699926	P	0.39920	0.695	B	0.31812	0.136	D	0.88984	0.3410	10	0.87932	D	0	.	10.2021	0.43089	0.0749:0.0:0.4229:0.5022	.	277	O76014	KRT37_HUMAN	W	277	ENSP00000225550:R277W	ENSP00000225550:R277W	R	-	1	2	KRT37	36832116	0.002000	0.14202	0.125000	0.21846	0.431000	0.31685	-1.641000	0.02007	-0.200000	0.10300	-0.274000	0.10170	CGG		0.582	KRT37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257714.2	NM_003770	
G6PC	2538	broad.mit.edu	37	17	41063121	41063121	+	Missense_Mutation	SNP	T	T	C			TCGA-32-5222-01A-01D-1486-08	TCGA-32-5222-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f48abf4d-f1fb-48bf-97a1-0c38435b6af7	fd30b963-9361-4b8d-a80a-37958b0a40d5	g.chr17:41063121T>C	ENST00000253801.2	+	5	831	c.752T>C	c.(751-753)gTc>gCc	p.V251A	G6PC_ENST00000592383.1_3'UTR|G6PC_ENST00000585489.1_3'UTR	NM_000151.3	NP_000142.2	P35575	G6PC_HUMAN	glucose-6-phosphatase, catalytic subunit	251					carbohydrate metabolic process (GO:0005975)|cholesterol homeostasis (GO:0042632)|dephosphorylation (GO:0016311)|gluconeogenesis (GO:0006094)|glucose 6-phosphate metabolic process (GO:0051156)|glucose homeostasis (GO:0042593)|glucose transport (GO:0015758)|glucose-6-phosphate transport (GO:0015760)|glycogen catabolic process (GO:0005980)|glycogen metabolic process (GO:0005977)|hexose transport (GO:0008645)|multicellular organism growth (GO:0035264)|regulation of gene expression (GO:0010468)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|transmembrane transport (GO:0055085)|triglyceride metabolic process (GO:0006641)|urate metabolic process (GO:0046415)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)	glucose-6-phosphatase activity (GO:0004346)|phosphate ion binding (GO:0042301)|phosphotransferase activity, alcohol group as acceptor (GO:0016773)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(1)|prostate(1)|skin(1)	23		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.113)		CCAGAATGGGTCCACATTGAC	0.582																																						uc002icb.1																			0				ovary(1)|breast(1)|kidney(1)|skin(1)	4						c.(751-753)GTC>GCC		glucose-6-phosphatase, catalytic subunit							101.0	87.0	92.0					17																	41063121		2203	4300	6503	SO:0001583	missense	2538	Glycogen_Storage_Disease_type_Ia			gluconeogenesis|glucose homeostasis|transmembrane transport	integral to endoplasmic reticulum membrane	glucose-6-phosphatase activity|phosphate binding	g.chr17:41063121T>C	U01120	CCDS11446.1, CCDS59291.1	17q21	2014-09-17	2006-06-28			ENSG00000131482	3.1.3.9		4056	protein-coding gene	gene with protein product	"""glycogen storage disease type I, von Gierke disease"""	613742	"""glucose-6-phosphatase, catalytic (glycogen storage disease type I, von Gierke disease)"""	G6PT		7774924	Standard	NM_000151		Approved	GSD1a	uc002icb.2	P35575		ENST00000253801.2:c.752T>C	17.37:g.41063121T>C	ENSP00000253801:p.Val251Ala					G6PC_uc010whf.1_3'UTR	p.V251A	NM_000151	NP_000142	P35575	G6PC_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.113)	5	831	+		Breast(137;0.000143)	251			Lumenal (Potential).		A1L4C0|B4E1C3|K7EL82	Missense_Mutation	SNP	ENST00000253801.2	37	c.752T>C	CCDS11446.1	.	.	.	.	.	.	.	.	.	.	T	18.34	3.601817	0.66445	.	.	ENSG00000131482	ENST00000253801	T	0.80824	-1.42	4.86	4.86	0.63082	.	0.131761	0.50627	D	0.000101	T	0.79488	0.4454	M	0.67397	2.05	0.80722	D	1	B	0.27791	0.189	B	0.27608	0.081	T	0.80165	-0.1496	10	0.87932	D	0	.	14.621	0.68584	0.0:0.0:0.0:1.0	.	251	P35575	G6PC_HUMAN	A	251	ENSP00000253801:V251A	ENSP00000253801:V251A	V	+	2	0	G6PC	38316647	1.000000	0.71417	0.997000	0.53966	0.935000	0.57460	7.819000	0.86621	2.040000	0.60383	0.455000	0.32223	GTC		0.582	G6PC-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452451.1	NM_000151	
EFCAB13	124989	broad.mit.edu	37	17	45471419	45471419	+	Silent	SNP	C	C	T			TCGA-32-5222-01A-01D-1486-08	TCGA-32-5222-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f48abf4d-f1fb-48bf-97a1-0c38435b6af7	fd30b963-9361-4b8d-a80a-37958b0a40d5	g.chr17:45471419C>T	ENST00000331493.2	+	16	2166	c.1755C>T	c.(1753-1755)ttC>ttT	p.F585F	EFCAB13_ENST00000517484.1_Silent_p.F489F	NM_152347.4	NP_689560.3	Q8IY85	EFC13_HUMAN	EF-hand calcium binding domain 13	585						cytoplasm (GO:0005737)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)	p.F585L(1)									TTAAAGAATTCATTGATACTA	0.269																																						uc002iln.2																			1	Substitution - Missense(1)		large_intestine(1)	breast(1)|central_nervous_system(1)|skin(1)	3						c.(1753-1755)TTC>TTT		hypothetical protein LOC124989							87.0	97.0	94.0					17																	45471419		2203	4300	6503	SO:0001819	synonymous_variant	124989						calcium ion binding	g.chr17:45471419C>T	BC036407	CCDS11512.1, CCDS56034.1	17q21.32	2013-01-11	2012-07-20	2012-07-20	ENSG00000178852	ENSG00000178852		"""EF-hand domain containing"""	26864	protein-coding gene	gene with protein product			"""chromosome 17 open reading frame 57"""	C17orf57			Standard	NM_152347		Approved	FLJ40342	uc002iln.3	Q8IY85	OTTHUMG00000164767	ENST00000331493.2:c.1755C>T	17.37:g.45471419C>T						C17orf57_uc002ilm.2_Silent_p.F489F	p.F585F	NM_152347	NP_689560	Q8IY85	CQ057_HUMAN			16	2166	+			585					G3V128|Q49AG9	Silent	SNP	ENST00000331493.2	37	c.1755C>T	CCDS11512.1																																																																																				0.269	EFCAB13-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000380147.4	NM_152347	
GPR142	350383	broad.mit.edu	37	17	72368116	72368116	+	Missense_Mutation	SNP	C	C	T	rs149042051	byFrequency	TCGA-32-5222-01A-01D-1486-08	TCGA-32-5222-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f48abf4d-f1fb-48bf-97a1-0c38435b6af7	fd30b963-9361-4b8d-a80a-37958b0a40d5	g.chr17:72368116C>T	ENST00000335666.4	+	4	814	c.766C>T	c.(766-768)Cgc>Tgc	p.R256C		NM_181790.1	NP_861455.1	Q7Z601	GP142_HUMAN	G protein-coupled receptor 142	256						cell junction (GO:0030054)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.R256C(1)		central_nervous_system(1)|endometrium(3)|large_intestine(3)|lung(21)|ovary(2)|prostate(1)|skin(4)	35						CACGGTTGACCGCTACACTGC	0.687																																						uc010wqy.1																			1	Substitution - Missense(1)		endometrium(1)	ovary(2)|central_nervous_system(1)|skin(1)	4						c.(766-768)CGC>TGC		G protein-coupled receptor 142		C	CYS/ARG	0,4406		0,0,2203	75.0	57.0	63.0		766	5.0	1.0	17	dbSNP_134	63	16,8584	11.9+/-42.8	0,16,4284	yes	missense	GPR142	NM_181790.1	180	0,16,6487	TT,TC,CC		0.186,0.0,0.123	probably-damaging	256/463	72368116	16,12990	2203	4300	6503	SO:0001583	missense	350383					cell junction|cytoplasm|integral to membrane	G-protein coupled receptor activity	g.chr17:72368116C>T	AY255622	CCDS11698.1	17q25.2	2012-08-21				ENSG00000257008		"""GPCR / Class A : Orphans"""	20088	protein-coding gene	gene with protein product		609046				14623098	Standard	NM_181790		Approved	PGR2	uc010wqy.2	Q7Z601		ENST00000335666.4:c.766C>T	17.37:g.72368116C>T	ENSP00000335158:p.Arg256Cys					GPR142_uc010wqx.1_Missense_Mutation_p.R168C	p.R256C	NM_181790	NP_861455	Q7Z601	GP142_HUMAN			4	766	+			256			Cytoplasmic (Potential).		A4CYJ8|Q86SL3	Missense_Mutation	SNP	ENST00000335666.4	37	c.766C>T	CCDS11698.1	.	.	.	.	.	.	.	.	.	.	C	18.33	3.599923	0.66332	0.0	0.00186	ENSG00000257008	ENST00000335666	D	0.97186	-4.28	4.99	4.99	0.66335	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	D	0.98444	0.9482	M	0.81497	2.545	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	D	0.99364	1.0918	10	0.87932	D	0	-31.3331	18.8605	0.92270	0.0:1.0:0.0:0.0	.	256;1218	Q7Z601;Q8NGB0	GP142_HUMAN;.	C	256	ENSP00000335158:R256C	ENSP00000335158:R256C	R	+	1	0	GPR142	69879711	1.000000	0.71417	0.998000	0.56505	0.141000	0.21300	4.541000	0.60670	2.708000	0.92522	0.650000	0.86243	CGC		0.687	GPR142-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442545.1	NM_181790	
CDH7	1005	broad.mit.edu	37	18	63547824	63547824	+	Silent	SNP	G	G	A	rs267605240		TCGA-32-5222-01A-01D-1486-08	TCGA-32-5222-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f48abf4d-f1fb-48bf-97a1-0c38435b6af7	fd30b963-9361-4b8d-a80a-37958b0a40d5	g.chr18:63547824G>A	ENST00000397968.2	+	12	2478	c.2052G>A	c.(2050-2052)agG>agA	p.R684R	CDH7_ENST00000323011.3_Silent_p.R684R	NM_004361.2	NP_004352.2	Q9ULB5	CADH7_HUMAN	cadherin 7, type 2	684					adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(43)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	80		Esophageal squamous(42;0.129)				AGACCCGGAGGGATGTGACTC	0.473																																						uc002ljz.2																			0				ovary(2)|pancreas(1)|skin(1)	4						c.(2050-2052)AGG>AGA		cadherin 7, type 2 preproprotein							78.0	81.0	80.0					18																	63547824		2203	4300	6503	SO:0001819	synonymous_variant	1005				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr18:63547824G>A	AB035301	CCDS11993.1	18q22.1	2010-01-26			ENSG00000081138	ENSG00000081138		"""Cadherins / Major cadherins"""	1766	protein-coding gene	gene with protein product		605806				9615235	Standard	NM_033646		Approved		uc002ljz.3	Q9ULB5	OTTHUMG00000132800	ENST00000397968.2:c.2052G>A	18.37:g.63547824G>A						CDH7_uc002lkb.2_Silent_p.R684R	p.R684R	NM_033646	NP_387450	Q9ULB5	CADH7_HUMAN			12	2377	+		Esophageal squamous(42;0.129)	684			Cytoplasmic (Potential).		Q9H157	Silent	SNP	ENST00000397968.2	37	c.2052G>A	CCDS11993.1																																																																																				0.473	CDH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256217.2	NM_033646	
MED16	10025	broad.mit.edu	37	19	868170	868170	+	Silent	SNP	C	C	T			TCGA-32-5222-01A-01D-1486-08	TCGA-32-5222-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f48abf4d-f1fb-48bf-97a1-0c38435b6af7	fd30b963-9361-4b8d-a80a-37958b0a40d5	g.chr19:868170C>T	ENST00000589119.1	-	15	2564	c.2565G>A	c.(2563-2565)ccG>ccA	p.P855P	MED16_ENST00000269814.4_3'UTR|MED16_ENST00000312090.6_3'UTR|MED16_ENST00000325464.1_Silent_p.P855P|MED16_ENST00000395808.3_3'UTR			Q9Y2X0	MED16_HUMAN	mediator complex subunit 16	855					androgen receptor signaling pathway (GO:0030521)|gene expression (GO:0010467)|intracellular steroid hormone receptor signaling pathway (GO:0030518)|positive regulation of receptor activity (GO:2000273)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	catalytic activity (GO:0003824)|receptor activity (GO:0004872)|thyroid hormone receptor binding (GO:0046966)|thyroid hormone receptor coactivator activity (GO:0030375)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|vitamin D receptor binding (GO:0042809)			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	21		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GTGTGGACTGCGGGCCCAGCT	0.677																																						uc002lqd.1																			0					0						c.(2563-2565)CCG>CCA		mediator complex subunit 16							38.0	37.0	37.0					19																	868170		2196	4296	6492	SO:0001819	synonymous_variant	10025				androgen receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase II promoter	mediator complex	receptor activity|thyroid hormone receptor binding|thyroid hormone receptor coactivator activity|vitamin D receptor binding	g.chr19:868170C>T	AF121228	CCDS12047.1	19p13.3	2013-01-10	2007-07-30	2007-07-30		ENSG00000175221		"""WD repeat domain containing"""	17556	protein-coding gene	gene with protein product		604062	"""thyroid hormone receptor associated protein 5"""	THRAP5		10235266, 10198638	Standard	NM_005481		Approved	DRIP92, TRAP95	uc002lqd.1	Q9Y2X0		ENST00000589119.1:c.2565G>A	19.37:g.868170C>T						MED16_uc010drw.1_3'UTR|MED16_uc002lqe.2_3'UTR|MED16_uc002lqf.2_3'UTR	p.P855P	NM_005481	NP_005472	Q9Y2X0	MED16_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	16	2716	-		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;6.59e-06)|all_lung(49;9.97e-06)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)	855					Q6PJT2|Q96AD4|Q96I35|Q9Y652	Silent	SNP	ENST00000589119.1	37	c.2565G>A	CCDS12047.1																																																																																				0.677	MED16-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000457902.3	NM_005481	
CCDC124	115098	broad.mit.edu	37	19	18054397	18054397	+	Missense_Mutation	SNP	C	C	T			TCGA-32-5222-01A-01D-1486-08	TCGA-32-5222-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f48abf4d-f1fb-48bf-97a1-0c38435b6af7	fd30b963-9361-4b8d-a80a-37958b0a40d5	g.chr19:18054397C>T	ENST00000597436.1	+	5	652	c.545C>T	c.(544-546)cCg>cTg	p.P182L	CCDC124_ENST00000445755.2_Missense_Mutation_p.P182L	NM_138442.3	NP_612451.1	Q96CT7	CC124_HUMAN	coiled-coil domain containing 124	182					cell cycle (GO:0007049)|cell division (GO:0051301)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|kidney(2)	3						GCCCAGCTGCCGCGGCTCAAA	0.637																																						uc010xpz.1																			0					0						c.(544-546)CCG>CTG		coiled-coil domain containing 124							26.0	34.0	32.0					19																	18054397		2202	4300	6502	SO:0001583	missense	115098						DNA binding	g.chr19:18054397C>T	BC013949	CCDS12369.1	19p13.11	2014-02-20				ENSG00000007080			25171	protein-coding gene	gene with protein product						23894443	Standard	NM_138442		Approved		uc002nhs.3	Q96CT7		ENST00000597436.1:c.545C>T	19.37:g.18054397C>T	ENSP00000471455:p.Pro182Leu					CCDC124_uc002nhs.2_Missense_Mutation_p.P182L	p.P182L	NM_001136203	NP_001129675	Q96CT7	CC124_HUMAN			5	590	+			182						Missense_Mutation	SNP	ENST00000597436.1	37	c.545C>T	CCDS12369.1	.	.	.	.	.	.	.	.	.	.	.	22.9	4.355594	0.82243	.	.	ENSG00000007080	ENST00000445755	T	0.75260	-0.92	4.76	2.61	0.31194	High mobility group, HMG1/HMG2 (1);	0.000000	0.85682	D	0.000000	D	0.87517	0.6197	M	0.93462	3.42	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	D	0.87025	0.2131	10	0.87932	D	0	-10.9757	9.1065	0.36701	0.0:0.8165:0.0:0.1835	.	182	Q96CT7	CC124_HUMAN	L	182	ENSP00000408730:P182L	ENSP00000408730:P182L	P	+	2	0	CCDC124	17915397	1.000000	0.71417	0.512000	0.27736	0.953000	0.61014	7.122000	0.77169	0.433000	0.26313	0.561000	0.74099	CCG		0.637	CCDC124-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466484.1	NM_138442	
UPF1	5976	broad.mit.edu	37	19	18961017	18961017	+	Missense_Mutation	SNP	G	G	A			TCGA-32-5222-01A-01D-1486-08	TCGA-32-5222-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f48abf4d-f1fb-48bf-97a1-0c38435b6af7	fd30b963-9361-4b8d-a80a-37958b0a40d5	g.chr19:18961017G>A	ENST00000599848.1	+	4	804	c.595G>A	c.(595-597)Gcc>Acc	p.A199T	UPF1_ENST00000262803.5_Missense_Mutation_p.A199T|UPF1_ENST00000600310.1_3'UTR			Q92900	RENT1_HUMAN	UPF1 regulator of nonsense transcripts homolog (yeast)	199	Sufficient for interaction with RENT2.				ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|dosage compensation by inactivation of X chromosome (GO:0009048)|gene expression (GO:0010467)|histone mRNA catabolic process (GO:0071044)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process (GO:0000956)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of translational termination (GO:0006449)|RNA metabolic process (GO:0016070)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|exon-exon junction complex (GO:0035145)|nucleus (GO:0005634)|supraspliceosomal complex (GO:0044530)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	40						CTTCATCCCGGCCAAAGCTGA	0.612																																						uc002nkg.2																			0				ovary(1)|central_nervous_system(1)	2						c.(595-597)GCC>ACC		regulator of nonsense transcripts 1							89.0	84.0	86.0					19																	18961017		2203	4300	6503	SO:0001583	missense	5976				cell cycle|DNA repair|DNA replication|histone mRNA catabolic process|mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of translational termination	chromatin|cytoplasmic mRNA processing body|exon-exon junction complex	ATP binding|ATP-dependent RNA helicase activity|chromatin binding|DNA binding|protein binding|protein binding|RNA binding|zinc ion binding	g.chr19:18961017G>A	AF074016	CCDS12386.1, CCDS74315.1	19p13.2-p13.11	2012-02-29	2006-02-07	2006-02-07	ENSG00000005007	ENSG00000005007			9962	protein-coding gene	gene with protein product	"""UP Frameshift 1"", ""smg-2 homolog, nonsense mediated mRNA decay factor (C. elegans)"""	601430	"""regulator of nonsense transcripts 1"""	RENT1		8855285, 9064659	Standard	XM_005260015		Approved	HUPF1, KIAA0221, NORF1, pNORF1, smg-2	uc002nkf.3	Q92900		ENST00000599848.1:c.595G>A	19.37:g.18961017G>A	ENSP00000470142:p.Ala199Thr					UPF1_uc002nkf.2_Missense_Mutation_p.A199T	p.A199T	NM_002911	NP_002902	Q92900	RENT1_HUMAN			4	870	+			199			Sufficient for interaction with RENT2.|C4-type.		O00239|O43343|Q86Z25|Q92842	Missense_Mutation	SNP	ENST00000599848.1	37	c.595G>A		.	.	.	.	.	.	.	.	.	.	G	22.2	4.264485	0.80358	.	.	ENSG00000005007	ENST00000262803	D	0.91521	-2.86	4.89	3.84	0.44239	RNA helicase UPF1, UPF2-interacting domain (1);	0.000000	0.85682	D	0.000000	D	0.94364	0.8188	M	0.90922	3.16	0.80722	D	1	D;P	0.56746	0.977;0.886	P;P	0.53102	0.718;0.596	D	0.94763	0.7938	10	0.87932	D	0	-34.2855	12.6109	0.56549	0.0822:0.0:0.9178:0.0	.	199;199	Q92900;Q92900-2	RENT1_HUMAN;.	T	199	ENSP00000262803:A199T	ENSP00000262803:A199T	A	+	1	0	UPF1	18822017	1.000000	0.71417	0.870000	0.34147	0.522000	0.34438	7.492000	0.81482	1.035000	0.39972	0.467000	0.42956	GCC		0.612	UPF1-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000464684.1	NM_002911	
PRODH2	58510	broad.mit.edu	37	19	36303168	36303168	+	Silent	SNP	C	C	T			TCGA-32-5222-01A-01D-1486-08	TCGA-32-5222-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f48abf4d-f1fb-48bf-97a1-0c38435b6af7	fd30b963-9361-4b8d-a80a-37958b0a40d5	g.chr19:36303168C>T	ENST00000301175.3	-	4	623	c.606G>A	c.(604-606)gcG>gcA	p.A202A		NM_021232.1	NP_067055.1	Q9UF12	PROD2_HUMAN	proline dehydrogenase (oxidase) 2	202					proline catabolic process to glutamate (GO:0010133)	mitochondrial inner membrane (GO:0005743)	proline dehydrogenase activity (GO:0004657)			haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(9)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	21	all_lung(56;2.87e-07)|Lung NSC(56;4.32e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			CCTCATACCACGCCTCACTGC	0.672																																						uc002obx.1																			0				ovary(2)	2						c.(604-606)GCG>GCA		kidney and liver proline oxidase 1							72.0	70.0	71.0					19																	36303168		2203	4299	6502	SO:0001819	synonymous_variant	58510				glutamate biosynthetic process|proline catabolic process		proline dehydrogenase activity	g.chr19:36303168C>T	U80018	CCDS12478.1	19q13.1	2014-07-11				ENSG00000250799			17325	protein-coding gene	gene with protein product							Standard	NM_021232		Approved	HSPOX1	uc002obx.1	Q9UF12		ENST00000301175.3:c.606G>A	19.37:g.36303168C>T							p.A202A	NM_021232	NP_067055	Q9UF12	PROD2_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0515)		4	624	-	all_lung(56;2.87e-07)|Lung NSC(56;4.32e-07)|Esophageal squamous(110;0.162)		202						Silent	SNP	ENST00000301175.3	37	c.606G>A	CCDS12478.1																																																																																				0.672	PRODH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452552.2	NM_021232	
RYR1	6261	broad.mit.edu	37	19	38991601	38991601	+	Missense_Mutation	SNP	G	G	A			TCGA-32-5222-01A-01D-1486-08	TCGA-32-5222-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f48abf4d-f1fb-48bf-97a1-0c38435b6af7	fd30b963-9361-4b8d-a80a-37958b0a40d5	g.chr19:38991601G>A	ENST00000359596.3	+	47	7585	c.7585G>A	c.(7585-7587)Gac>Aac	p.D2529N	RYR1_ENST00000355481.4_Missense_Mutation_p.D2529N|RYR1_ENST00000360985.3_Missense_Mutation_p.D2529N			P21817	RYR1_HUMAN	ryanodine receptor 1 (skeletal)	2529	6 X approximate repeats.				calcium ion transport (GO:0006816)|cellular response to caffeine (GO:0071313)|cytosolic calcium ion homeostasis (GO:0051480)|ion transmembrane transport (GO:0034220)|muscle contraction (GO:0006936)|ossification involved in bone maturation (GO:0043931)|outflow tract morphogenesis (GO:0003151)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|skeletal muscle fiber development (GO:0048741)|skin development (GO:0043588)|transmembrane transport (GO:0055085)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|integral component of plasma membrane (GO:0005887)|junctional membrane complex (GO:0030314)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|terminal cisterna (GO:0014802)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|voltage-gated calcium channel activity (GO:0005245)			NS(4)|autonomic_ganglia(2)|breast(3)|central_nervous_system(5)|endometrium(26)|haematopoietic_and_lymphoid_tissue(3)|kidney(34)|large_intestine(42)|liver(1)|lung(106)|ovary(11)|pancreas(5)|prostate(9)|skin(12)|stomach(11)|upper_aerodigestive_tract(4)|urinary_tract(7)	285	all_cancers(60;7.91e-06)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		Caffeine(DB00201)|Dantrolene(DB01219)|Suramin(DB04786)	GTTCCTGCCCGACATGAGGGC	0.642																																						uc002oit.2																			0				ovary(7)|pancreas(2)|breast(1)|central_nervous_system(1)|skin(1)	12						c.(7585-7587)GAC>AAC		skeletal muscle ryanodine receptor isoform 1	Dantrolene(DB01219)						42.0	33.0	36.0					19																	38991601		2203	4300	6503	SO:0001583	missense	6261				muscle contraction|release of sequestered calcium ion into cytosol|response to caffeine|response to hypoxia	cell cortex|cytosol|I band|integral to plasma membrane|junctional sarcoplasmic reticulum membrane|smooth endoplasmic reticulum|terminal cisterna	calcium ion binding|calmodulin binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr19:38991601G>A	J05200	CCDS33011.1, CCDS42563.1	19q13.1	2014-09-17				ENSG00000196218		"""Ion channels / Ryanodine receptors"""	10483	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 137"""	180901	"""central core disease of muscle"""	MHS, MHS1, CCO		1862346, 16621918	Standard	NM_000540		Approved	RYR, PPP1R137	uc002oit.3	P21817		ENST00000359596.3:c.7585G>A	19.37:g.38991601G>A	ENSP00000352608:p.Asp2529Asn					RYR1_uc002oiu.2_Missense_Mutation_p.D2529N|RYR1_uc002oiv.1_5'UTR	p.D2529N	NM_000540	NP_000531	P21817	RYR1_HUMAN	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		47	7715	+	all_cancers(60;7.91e-06)		2529			Cytoplasmic.|6 X approximate repeats.		Q16314|Q16368|Q9NPK1|Q9P1U4	Missense_Mutation	SNP	ENST00000359596.3	37	c.7585G>A	CCDS33011.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.966369	0.74131	.	.	ENSG00000196218	ENST00000359596;ENST00000355481;ENST00000360985	D;D;D	0.92249	-3.0;-3.0;-3.0	4.41	4.41	0.53225	.	0.000000	0.64402	U	0.000001	D	0.96219	0.8767	M	0.84948	2.725	0.51233	D	0.999915	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.99	D	0.96961	0.9701	10	0.87932	D	0	.	15.9284	0.79639	0.0:0.0:1.0:0.0	.	2529;2529	P21817-2;P21817	.;RYR1_HUMAN	N	2529	ENSP00000352608:D2529N;ENSP00000347667:D2529N;ENSP00000354254:D2529N	ENSP00000347667:D2529N	D	+	1	0	RYR1	43683441	1.000000	0.71417	0.989000	0.46669	0.759000	0.43091	9.618000	0.98365	2.259000	0.74868	0.491000	0.48974	GAC		0.642	RYR1-010	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000462137.1		
FCGBP	8857	broad.mit.edu	37	19	40384053	40384053	+	Missense_Mutation	SNP	T	T	C			TCGA-32-5222-01A-01D-1486-08	TCGA-32-5222-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f48abf4d-f1fb-48bf-97a1-0c38435b6af7	fd30b963-9361-4b8d-a80a-37958b0a40d5	g.chr19:40384053T>C	ENST00000221347.6	-	21	9564	c.9557A>G	c.(9556-9558)gAg>gGg	p.E3186G		NM_003890.2	NP_003881.2	Q9Y6R7	FCGBP_HUMAN	Fc fragment of IgG binding protein	3186	TIL 7.					extracellular vesicular exosome (GO:0070062)				NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(5)|endometrium(13)|kidney(9)|large_intestine(27)|lung(49)|ovary(8)|pancreas(3)|prostate(13)|skin(9)|stomach(9)|upper_aerodigestive_tract(6)|urinary_tract(3)	165	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)			CTGGCAGCCCTCCACACAGGG	0.652																																						uc002omp.3																			0				ovary(4)|skin(4)|central_nervous_system(1)	9						c.(9556-9558)GAG>GGG		Fc fragment of IgG binding protein precursor							8.0	10.0	9.0					19																	40384053		1455	3099	4554	SO:0001583	missense	8857					extracellular region	protein binding	g.chr19:40384053T>C	D84239		19q13.2	2013-09-20			ENSG00000090920	ENSG00000275395			13572	protein-coding gene	gene with protein product	"""IgG Fc binding protein"", ""Human Fc gamma BP"""					9182547	Standard	NM_003890		Approved	FC(GAMMA)BP	uc002omp.4	Q9Y6R7	OTTHUMG00000182580	ENST00000221347.6:c.9557A>G	19.37:g.40384053T>C	ENSP00000221347:p.Glu3186Gly						p.E3186G	NM_003890	NP_003881	Q9Y6R7	FCGBP_HUMAN	Epithelial(26;6.25e-23)|all cancers(26;1.13e-20)		21	9565	-	all_cancers(60;6.03e-06)|all_lung(34;5.58e-08)|Lung NSC(34;6.62e-08)|Ovarian(47;0.06)		3186			TIL 7.		O95784	Missense_Mutation	SNP	ENST00000221347.6	37	c.9557A>G	CCDS12546.1	.	.	.	.	.	.	.	.	.	.	T	16.68	3.190075	0.58017	.	.	ENSG00000090920	ENST00000221347	T	0.81247	-1.47	3.48	3.48	0.39840	Protease inhibitor I8, cysteine-rich trypsin inhibitor-like (2);	.	.	.	.	D	0.90120	0.6913	M	0.91140	3.18	0.33474	D	0.586543	D	0.89917	1.0	D	0.91635	0.999	D	0.91419	0.5157	9	0.29301	T	0.29	.	11.2207	0.48853	0.0:0.0:0.0:1.0	.	3186	Q9Y6R7	FCGBP_HUMAN	G	3186	ENSP00000221347:E3186G	ENSP00000221347:E3186G	E	-	2	0	FCGBP	45075893	1.000000	0.71417	0.958000	0.39756	0.131000	0.20780	6.077000	0.71275	1.339000	0.45563	0.334000	0.21626	GAG		0.652	FCGBP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462507.1	NM_003890	
CNTD2	79935	broad.mit.edu	37	19	40730663	40730663	+	Missense_Mutation	SNP	C	C	T			TCGA-32-5222-01A-01D-1486-08	TCGA-32-5222-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f48abf4d-f1fb-48bf-97a1-0c38435b6af7	fd30b963-9361-4b8d-a80a-37958b0a40d5	g.chr19:40730663C>T	ENST00000430325.2	-	2	371	c.323G>A	c.(322-324)cGc>cAc	p.R108H	CNTD2_ENST00000513948.1_Missense_Mutation_p.R2H|CNTD2_ENST00000433940.1_Intron	NM_024877.3	NP_079153.2	Q9H8S5	CNTD2_HUMAN	cyclin N-terminal domain containing 2	108	Cyclin N-terminal.				regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)					lung(1)|prostate(1)	2						CACCAGGGCGCGCATCTCCGG	0.682																																						uc010xvi.1																			0					0						c.(322-324)CGC>CAC		cyclin N-terminal domain containing 2 isoform 2							21.0	34.0	30.0					19																	40730663		692	1591	2283	SO:0001583	missense	79935				regulation of cyclin-dependent protein kinase activity		protein kinase binding	g.chr19:40730663C>T	AK023327	CCDS12551.1, CCDS12551.2	19q13.2	2014-07-03				ENSG00000105219			25805	protein-coding gene	gene with protein product	"""cyclin P"""					11237006	Standard	NM_024877		Approved	FLJ13265, CCNP	uc010xvi.2	Q9H8S5		ENST00000430325.2:c.323G>A	19.37:g.40730663C>T	ENSP00000396755:p.Arg108His					CNTD2_uc002ond.2_Intron	p.R108H	NM_024877	NP_079153	Q9H8S5	CNTD2_HUMAN			2	372	-			108					B4DX65	Missense_Mutation	SNP	ENST00000430325.2	37	c.323G>A	CCDS12551.2	.	.	.	.	.	.	.	.	.	.	C	18.42	3.620726	0.66787	.	.	ENSG00000105219	ENST00000430325;ENST00000513948	T;T	0.20332	2.08;2.08	5.28	4.24	0.50183	.	.	.	.	.	T	0.59473	0.2196	H	0.96943	3.91	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.72959	-0.4133	9	0.87932	D	0	.	12.6332	0.56669	0.1657:0.8343:0.0:0.0	.	108	B4DX65	.	H	108;2	ENSP00000396755:R108H;ENSP00000425529:R2H	ENSP00000396755:R108H	R	-	2	0	CNTD2	45422503	0.988000	0.35896	0.809000	0.32408	0.337000	0.28794	2.995000	0.49441	1.209000	0.43321	0.561000	0.74099	CGC		0.682	CNTD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360785.1	NM_024877	
LYPD4	147719	broad.mit.edu	37	19	42342041	42342041	+	Missense_Mutation	SNP	G	G	A	rs369563100		TCGA-32-5222-01A-01D-1486-08	TCGA-32-5222-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f48abf4d-f1fb-48bf-97a1-0c38435b6af7	fd30b963-9361-4b8d-a80a-37958b0a40d5	g.chr19:42342041G>A	ENST00000330743.3	-	4	1717	c.506C>T	c.(505-507)aCg>aTg	p.T169M	LYPD4_ENST00000343055.4_Missense_Mutation_p.T134M|LYPD4_ENST00000601246.1_Missense_Mutation_p.T134M|AC020956.3_ENST00000593354.1_lincRNA	NM_173506.4	NP_775777.3	Q6UWN0	LYPD4_HUMAN	LY6/PLAUR domain containing 4	169	UPAR/Ly6.					anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				breast(1)|kidney(1)|large_intestine(4)|lung(3)|ovary(1)|skin(2)	12						ACTGTAACACGTAGAAGCAGC	0.488																																						uc002orp.1																			0				ovary(1)	1						c.(505-507)ACG>ATG		LY6/PLAUR domain containing 4 precursor			MET/THR	3,4403	6.2+/-15.9	0,3,2200	60.0	59.0	59.0		506	-3.9	0.0	19		59	0,8600		0,0,4300	no	missense	LYPD4	NM_173506.4	81	0,3,6500	AA,AG,GG		0.0,0.0681,0.0231	possibly-damaging	169/247	42342041	3,13003	2203	4300	6503	SO:0001583	missense	147719					anchored to membrane|plasma membrane		g.chr19:42342041G>A	AY358726	CCDS12587.1	19q13.2	2008-02-05				ENSG00000273111			28659	protein-coding gene	gene with protein product						12975309	Standard	XM_005278383		Approved	MGC42718	uc002orp.1	Q6UWN0		ENST00000330743.3:c.506C>T	19.37:g.42342041G>A	ENSP00000328737:p.Thr169Met					LYPD4_uc002orq.1_Missense_Mutation_p.T134M	p.T169M	NM_173506	NP_775777	Q6UWN0	LYPD4_HUMAN			4	1490	-			169			UPAR/Ly6.		Q8IYW0	Missense_Mutation	SNP	ENST00000330743.3	37	c.506C>T	CCDS12587.1	.	.	.	.	.	.	.	.	.	.	g	12.36	1.916096	0.33815	6.81E-4	0.0	ENSG00000183103	ENST00000330743;ENST00000343055	T;T	0.70045	-0.45;-0.45	4.13	-3.94	0.04130	CD59 antigen (1);	2.204360	0.01755	N	0.030143	T	0.44582	0.1300	N	0.22421	0.69	0.09310	N	1	B;B	0.29936	0.221;0.262	B;B	0.17098	0.01;0.017	T	0.17868	-1.0355	10	0.46703	T	0.11	4.5027	0.9882	0.01451	0.2288:0.2248:0.3636:0.1829	.	134;169	Q6UWN0-2;Q6UWN0	.;LYPD4_HUMAN	M	169;134	ENSP00000328737:T169M;ENSP00000339568:T134M	ENSP00000328737:T169M	T	-	2	0	LYPD4	47033881	0.000000	0.05858	0.000000	0.03702	0.134000	0.20937	-0.994000	0.03716	-0.706000	0.05028	-0.389000	0.06534	ACG		0.488	LYPD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463039.1	NM_173506	
PHLDB3	653583	broad.mit.edu	37	19	44008217	44008217	+	Missense_Mutation	SNP	T	T	G			TCGA-32-5222-01A-01D-1486-08	TCGA-32-5222-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f48abf4d-f1fb-48bf-97a1-0c38435b6af7	fd30b963-9361-4b8d-a80a-37958b0a40d5	g.chr19:44008217T>G	ENST00000292140.5	-	2	414	c.54A>C	c.(52-54)gaA>gaC	p.E18D	PHLDB3_ENST00000599242.1_Missense_Mutation_p.E18D	NM_198850.3	NP_942147.3	Q6NSJ2	PHLB3_HUMAN	pleckstrin homology-like domain, family B, member 3	18							enzyme binding (GO:0019899)			breast(1)|central_nervous_system(1)|lung(5)	7		Prostate(69;0.0153)				CCACGTCGCATTCCGGGACCA	0.736																																						uc002own.3																			0					0						c.(52-54)GAA>GAC		pleckstrin homology-like domain, family B,							18.0	19.0	18.0					19																	44008217		2201	4295	6496	SO:0001583	missense	653583							g.chr19:44008217T>G		CCDS12621.2	19q13.31	2013-01-10			ENSG00000176531	ENSG00000176531		"""Pleckstrin homology (PH) domain containing"""	30499	protein-coding gene	gene with protein product							Standard	NM_198850		Approved	FLJ40193	uc002own.4	Q6NSJ2	OTTHUMG00000150693	ENST00000292140.5:c.54A>C	19.37:g.44008217T>G	ENSP00000292140:p.Glu18Asp					PHLDB3_uc002owo.2_Missense_Mutation_p.E18D	p.E18D	NM_198850	NP_942147	Q6NSJ2	PHLB3_HUMAN			2	313	-		Prostate(69;0.0153)	18					Q8N7Z4	Missense_Mutation	SNP	ENST00000292140.5	37	c.54A>C	CCDS12621.2	.	.	.	.	.	.	.	.	.	.	T	20.4	3.978361	0.74360	.	.	ENSG00000176531	ENST00000292140	T	0.52295	0.67	4.61	-0.38	0.12490	.	1.692630	0.03446	N	0.209984	T	0.34978	0.0916	L	0.29908	0.895	0.09310	N	1	B;B	0.11235	0.004;0.002	B;B	0.09377	0.004;0.001	T	0.32534	-0.9903	10	0.87932	D	0	.	3.6537	0.08213	0.0:0.3934:0.2021:0.4045	.	18;18	Q6NSJ2-2;Q6NSJ2	.;PHLB3_HUMAN	D	18	ENSP00000292140:E18D	ENSP00000292140:E18D	E	-	3	2	PHLDB3	48700057	0.000000	0.05858	0.005000	0.12908	0.043000	0.13939	-1.002000	0.03686	0.056000	0.16144	0.248000	0.18094	GAA		0.736	PHLDB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319643.2		
KLK15	55554	broad.mit.edu	37	19	51330300	51330300	+	Silent	SNP	G	G	A	rs369380000		TCGA-32-5222-01A-01D-1486-08	TCGA-32-5222-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f48abf4d-f1fb-48bf-97a1-0c38435b6af7	fd30b963-9361-4b8d-a80a-37958b0a40d5	g.chr19:51330300G>A	ENST00000598239.1	-	3	345	c.315C>T	c.(313-315)aaC>aaT	p.N105N	KLK15_ENST00000596931.1_Silent_p.N104N|KLK15_ENST00000326856.4_Silent_p.N104N|KLK15_ENST00000416184.1_Silent_p.N105N|KLK15_ENST00000301421.2_Silent_p.N105N	NM_017509.2	NP_059979.2	Q9H2R5	KLK15_HUMAN	kallikrein-related peptidase 15	105	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			breast(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(12)|skin(2)|upper_aerodigestive_tract(1)	24		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00758)|GBM - Glioblastoma multiforme(134;0.0143)		ACATGATGTCGTTGCGGTGGC	0.687																																					Pancreas(140;10 2513 7143 9246)	uc002ptl.2																			0				lung(1)|breast(1)	2						c.(313-315)AAC>AAT		kallikrein-related peptidase 15 isoform 4							65.0	58.0	61.0					19																	51330300		2202	4299	6501	SO:0001819	synonymous_variant	55554				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr19:51330300G>A	AF242195	CCDS12805.1, CCDS12806.1, CCDS12806.2, CCDS62766.1	19q13.4	2008-02-05	2006-10-27			ENSG00000174562		"""Kallikreins"""	20453	protein-coding gene	gene with protein product		610601	"""kallikrein 15"""			11010966, 12439720, 16800724, 16800723	Standard	NM_017509		Approved	HSRNASPH, ACO, prostinogen	uc002ptl.3	Q9H2R5		ENST00000598239.1:c.315C>T	19.37:g.51330300G>A						KLK15_uc002ptm.2_Silent_p.N105N|KLK15_uc002ptn.2_Silent_p.N105N|KLK15_uc002pto.2_Silent_p.N104N|KLK15_uc010ych.1_RNA|KLK15_uc010yci.1_Silent_p.N104N|KLK15_uc010eod.2_RNA	p.N105N	NM_017509	NP_059979	Q9H2R5	KLK15_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00758)|GBM - Glioblastoma multiforme(134;0.0143)	3	346	-		all_neural(266;0.057)	105			Peptidase S1.		A0AUY8|Q15358|Q6ISI0|Q9H2R3|Q9H2R4|Q9H2R6|Q9HBG9	Silent	SNP	ENST00000598239.1	37	c.315C>T	CCDS12805.1																																																																																				0.687	KLK15-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465160.1	NM_017509	
SIGLEC6	946	broad.mit.edu	37	19	52034114	52034114	+	Missense_Mutation	SNP	G	G	A			TCGA-32-5222-01A-01D-1486-08	TCGA-32-5222-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f48abf4d-f1fb-48bf-97a1-0c38435b6af7	fd30b963-9361-4b8d-a80a-37958b0a40d5	g.chr19:52034114G>A	ENST00000425629.3	-	3	681	c.527C>T	c.(526-528)aCg>aTg	p.T176M	SIGLEC6_ENST00000346477.3_Missense_Mutation_p.T176M|SIGLEC6_ENST00000474054.1_5'Flank|SIGLEC6_ENST00000391797.3_Missense_Mutation_p.T165M|SIGLEC6_ENST00000359982.4_Missense_Mutation_p.T176M|SIGLEC6_ENST00000436458.1_Missense_Mutation_p.T140M|SIGLEC6_ENST00000343300.4_Missense_Mutation_p.T176M	NM_001245.5	NP_001236.4	O43699	SIGL6_HUMAN	sialic acid binding Ig-like lectin 6	176	Ig-like C2-type 1.				cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	carbohydrate binding (GO:0030246)			endometrium(3)|kidney(1)|large_intestine(6)|liver(1)|lung(15)|ovary(1)|stomach(1)	28		all_neural(266;0.0199)		GBM - Glioblastoma multiforme(134;0.00115)|OV - Ovarian serous cystadenocarcinoma(262;0.0165)		GATGGGGGGCGTCCCCTGCTC	0.667																																						uc002pwy.2																			0				ovary(1)	1						c.(526-528)ACG>ATG		sialic acid binding Ig-like lectin 6 isoform 1							73.0	77.0	76.0					19																	52034114		2203	4300	6503	SO:0001583	missense	946				cell adhesion|cell-cell signaling	cytoplasm|extracellular region|integral to plasma membrane|membrane fraction|nucleus		g.chr19:52034114G>A	D86358	CCDS12834.3, CCDS12835.3, CCDS12836.3, CCDS54307.1, CCDS54308.1, CCDS59417.1	19q13.3	2013-01-29			ENSG00000105492	ENSG00000105492		"""Sialic acid binding Ig-like lectins"", ""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10875	protein-coding gene	gene with protein product		604405		CD33L, CD33L1		9465907	Standard	NM_001245		Approved	OB-BP1, SIGLEC-6, CD327	uc002pwy.3	O43699	OTTHUMG00000133571	ENST00000425629.3:c.527C>T	19.37:g.52034114G>A	ENSP00000401502:p.Thr176Met					SIGLEC6_uc002pwz.2_Missense_Mutation_p.T176M|SIGLEC6_uc002pxa.2_Missense_Mutation_p.T176M|SIGLEC6_uc010ydb.1_Missense_Mutation_p.T129M|SIGLEC6_uc010ydc.1_Missense_Mutation_p.T165M|SIGLEC6_uc010eoz.1_Missense_Mutation_p.T154M|SIGLEC6_uc010epb.1_Missense_Mutation_p.T129M|SIGLEC6_uc010epa.1_Missense_Mutation_p.T165M	p.T176M	NM_001245	NP_001236	O43699	SIGL6_HUMAN		GBM - Glioblastoma multiforme(134;0.00115)|OV - Ovarian serous cystadenocarcinoma(262;0.0165)	3	689	-		all_neural(266;0.0199)	176			Ig-like C2-type 1.|Extracellular (Potential).		A8MV71|B2RTS8|C9JBE5|F8WA78|O15388|O43700	Missense_Mutation	SNP	ENST00000425629.3	37	c.527C>T	CCDS12834.3	.	.	.	.	.	.	.	.	.	.	G	6.373	0.436995	0.12104	.	.	ENSG00000105492	ENST00000346477;ENST00000391797;ENST00000425629;ENST00000359982;ENST00000436458;ENST00000343300;ENST00000426829	T;T;T;T;T	0.26518	1.73;2.04;2.04;2.04;2.04	3.34	0.816	0.18768	Immunoglobulin-like (1);Immunoglobulin (1);Immunoglobulin-like fold (1);	0.177463	0.26955	N	0.021642	T	0.37019	0.0988	M	0.68317	2.08	0.09310	N	1	D;D;D;D;D;D;D	0.76494	0.993;0.988;0.989;0.993;0.999;0.992;0.998	P;P;P;P;D;P;D	0.68483	0.891;0.746;0.701;0.891;0.948;0.843;0.958	T	0.09335	-1.0679	10	0.30854	T	0.27	.	3.7299	0.08489	0.1615:0.2528:0.5857:0.0	.	176;140;165;165;176;176;176	F8WA78;C9JBE5;C9JUT6;O43699-4;O43699-2;O43699-3;O43699	.;.;.;.;.;.;SIGL6_HUMAN	M	165;176;176;176;140;176;165	ENSP00000344064:T165M;ENSP00000401502:T176M;ENSP00000353071:T176M;ENSP00000410679:T140M;ENSP00000345907:T176M	ENSP00000345907:T176M	T	-	2	0	SIGLEC6	56725926	0.001000	0.12720	0.010000	0.14722	0.029000	0.11900	-0.102000	0.10956	0.678000	0.31325	0.313000	0.20887	ACG		0.667	SIGLEC6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257670.3	NM_001245	
LILRB1	10859	broad.mit.edu	37	19	55143056	55143056	+	Missense_Mutation	SNP	G	G	A			TCGA-32-5222-01A-01D-1486-08	TCGA-32-5222-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f48abf4d-f1fb-48bf-97a1-0c38435b6af7	fd30b963-9361-4b8d-a80a-37958b0a40d5	g.chr19:55143056G>A	ENST00000396331.1	+	5	533	c.176G>A	c.(175-177)cGt>cAt	p.R59H	LILRB1_ENST00000396315.1_Missense_Mutation_p.R59H|LILRB1_ENST00000396327.3_Missense_Mutation_p.R59H|LILRB1_ENST00000396321.2_Missense_Mutation_p.R59H|LILRB1_ENST00000418536.2_Missense_Mutation_p.R59H|LILRB1_ENST00000427581.2_Missense_Mutation_p.R95H|LILRB1_ENST00000396332.4_Missense_Mutation_p.R59H|AC009892.1_ENST00000578908.1_RNA|LILRB1_ENST00000448689.1_Missense_Mutation_p.R59H|LILRB1_ENST00000324602.7_Missense_Mutation_p.R59H|LILRB1_ENST00000434867.2_Missense_Mutation_p.R59H|LILRB1_ENST00000396317.1_Missense_Mutation_p.R59H	NM_006669.3	NP_006660.3	Q8NHL6	LIRB1_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 1	59	Ig-like C2-type 1.				cellular response to lipopolysaccharide (GO:0071222)|defense response to virus (GO:0051607)|dendritic cell differentiation (GO:0097028)|Fc receptor mediated inhibitory signaling pathway (GO:0002774)|immune response-inhibiting cell surface receptor signaling pathway (GO:0002767)|interferon-gamma production (GO:0032609)|interferon-gamma secretion (GO:0072643)|negative regulation of alpha-beta T cell activation (GO:0046636)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of CD8-positive, alpha-beta T cell activation (GO:2001186)|negative regulation of cell cycle (GO:0045786)|negative regulation of cytokine secretion involved in immune response (GO:0002740)|negative regulation of dendritic cell apoptotic process (GO:2000669)|negative regulation of dendritic cell differentiation (GO:2001199)|negative regulation of endocytosis (GO:0045806)|negative regulation of interferon-beta secretion (GO:0035548)|negative regulation of interferon-gamma biosynthetic process (GO:0045077)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of interleukin-10 secretion (GO:2001180)|negative regulation of interleukin-12 secretion (GO:2001183)|negative regulation of mononuclear cell proliferation (GO:0032945)|negative regulation of natural killer cell mediated cytotoxicity (GO:0045953)|negative regulation of osteoclast development (GO:2001205)|negative regulation of serotonin secretion (GO:0014063)|negative regulation of T cell activation via T cell receptor contact with antigen bound to MHC molecule on antigen presenting cell (GO:2001189)|negative regulation of T cell mediated cytotoxicity (GO:0001915)|negative regulation of T cell proliferation (GO:0042130)|negative regulation of transforming growth factor-beta secretion (GO:2001202)|negative regulation of tumor necrosis factor biosynthetic process (GO:0042536)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cytolysis (GO:0045919)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of gamma-delta T cell activation involved in immune response (GO:2001193)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|receptor internalization (GO:0031623)|regulation of immune response (GO:0050776)|response to virus (GO:0009615)|signal transduction (GO:0007165)|T cell proliferation involved in immune response (GO:0002309)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	HLA-A specific inhibitory MHC class I receptor activity (GO:0030107)|HLA-B specific inhibitory MHC class I receptor activity (GO:0030109)|MHC class I protein binding (GO:0042288)|MHC class I receptor activity (GO:0032393)|protein homodimerization activity (GO:0042803)|protein phosphatase 1 binding (GO:0008157)|SH2 domain binding (GO:0042169)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(38)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	74				GBM - Glioblastoma multiforme(193;0.0188)		CAGGAGTACCGTCTATATAGA	0.572										HNSCC(37;0.09)																												uc002qgj.2																			0				large_intestine(1)|ovary(1)|skin(1)	3						c.(175-177)CGT>CAT		leukocyte immunoglobulin-like receptor,							129.0	128.0	128.0					19																	55143056		2203	4300	6503	SO:0001583	missense	10859				regulation of immune response|response to virus	integral to membrane|plasma membrane	protein phosphatase 1 binding|receptor activity	g.chr19:55143056G>A	AF009220	CCDS42614.1, CCDS42615.1, CCDS42616.1, CCDS42617.1, CCDS62803.1	19q13.4	2013-01-11						"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6605	protein-coding gene	gene with protein product		604811				9285411, 9382880	Standard	XM_006726246		Approved	LIR-1, ILT2, MIR-7, CD85, LIR1, CD85j	uc002qgm.3	Q8NHL6		ENST00000396331.1:c.176G>A	19.37:g.55143056G>A	ENSP00000379622:p.Arg59His	HNSCC(37;0.09)				LILRB1_uc010erp.1_Intron|LILRB1_uc002qgl.2_Missense_Mutation_p.R59H|LILRB1_uc002qgk.2_Missense_Mutation_p.R59H|LILRB1_uc002qgm.2_Missense_Mutation_p.R59H|LILRB1_uc010erq.2_Missense_Mutation_p.R59H|LILRB1_uc010err.2_RNA	p.R59H	NM_006669	NP_006660	Q8NHL6	LIRB1_HUMAN		GBM - Glioblastoma multiforme(193;0.0188)	5	516	+			59			Ig-like C2-type 1.|Extracellular (Potential).		A2IXV4|A8MXT0|O75024|O75025|Q8NHJ9|Q8NHK0	Missense_Mutation	SNP	ENST00000396331.1	37	c.176G>A	CCDS42617.1	.	.	.	.	.	.	.	.	.	.	A	0	-2.605232	0.00123	.	.	ENSG00000104972	ENST00000396321;ENST00000418536;ENST00000448689;ENST00000396331;ENST00000396327;ENST00000324602;ENST00000434867;ENST00000396332;ENST00000427581;ENST00000396317;ENST00000396315	T;T;T;T;T;T;T;T;T;T;T	0.12672	2.66;2.66;2.66;2.66;2.66;2.66;2.66;2.66;2.66;2.66;2.66	2.11	-4.23	0.03789	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	2.954600	0.00904	N	0.002387	T	0.05227	0.0139	N	0.05259	-0.085	0.09310	N	1	B;B;B;B;B	0.12630	0.006;0.001;0.002;0.001;0.001	B;B;B;B;B	0.09377	0.004;0.001;0.001;0.001;0.002	T	0.35798	-0.9774	10	0.02654	T	1	.	3.6558	0.08220	0.4498:0.0:0.2358:0.3144	.	59;59;59;59;59	A8MVE2;Q8NHL6-3;A2IXV4;Q8NHL6-2;Q8NHL6	.;.;.;.;LIRB1_HUMAN	H	59;59;59;59;59;59;59;59;95;59;59	ENSP00000379614:R59H;ENSP00000391514:R59H;ENSP00000409968:R59H;ENSP00000379622:R59H;ENSP00000379618:R59H;ENSP00000315997:R59H;ENSP00000405243:R59H;ENSP00000379623:R59H;ENSP00000395004:R95H;ENSP00000379610:R59H;ENSP00000379608:R59H	ENSP00000315997:R59H	R	+	2	0	LILRB1	59834868	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-6.336000	0.00070	-4.910000	0.00027	-2.804000	0.00113	CGT		0.572	LILRB1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000140796.4		
CEP68	23177	broad.mit.edu	37	2	65296813	65296813	+	Missense_Mutation	SNP	C	C	T			TCGA-32-5222-01A-01D-1486-08	TCGA-32-5222-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f48abf4d-f1fb-48bf-97a1-0c38435b6af7	fd30b963-9361-4b8d-a80a-37958b0a40d5	g.chr2:65296813C>T	ENST00000377990.2	+	2	438	c.235C>T	c.(235-237)Cac>Tac	p.H79Y	CEP68_ENST00000260569.4_Missense_Mutation_p.H79Y|CEP68_ENST00000546106.1_Missense_Mutation_p.H79Y|RAB1A_ENST00000494188.1_5'Flank|CEP68_ENST00000537589.1_Intron	NM_015147.2	NP_055962.2	Q76N32	CEP68_HUMAN	centrosomal protein 68kDa	79					centriole-centriole cohesion (GO:0010457)|centrosome organization (GO:0051297)|protein localization to organelle (GO:0033365)	centrosome (GO:0005813)|cytoplasm (GO:0005737)	protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			breast(1)|endometrium(6)|kidney(8)|large_intestine(5)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	32						CTCTAGAGCCCACCAGCCACA	0.637																																						uc002sdl.3																			0				skin(1)	1						c.(235-237)CAC>TAC		centrosomal protein 68kDa							34.0	40.0	38.0					2																	65296813		2203	4300	6503	SO:0001583	missense	23177				centrosome organization	centrosome		g.chr2:65296813C>T	BC004873	CCDS1880.2	2p14	2014-02-20	2005-12-01	2005-12-01	ENSG00000011523	ENSG00000011523			29076	protein-coding gene	gene with protein product			"""KIAA0582"""	KIAA0582		9628581, 9847074, 14654843	Standard	NM_015147		Approved		uc002sdl.4	Q76N32	OTTHUMG00000129538	ENST00000377990.2:c.235C>T	2.37:g.65296813C>T	ENSP00000367229:p.His79Tyr					CEP68_uc002sdj.2_Missense_Mutation_p.H79Y|CEP68_uc010yqb.1_Missense_Mutation_p.H79Y|CEP68_uc002sdk.3_Missense_Mutation_p.H79Y|CEP68_uc010yqc.1_Missense_Mutation_p.H79Y|CEP68_uc010yqd.1_Missense_Mutation_p.H79Y	p.H79Y	NM_015147	NP_055962	Q76N32	CEP68_HUMAN			2	449	+			79					B4DRQ1|D6W5F1|D6W5F2|O60326|Q9BQ18|Q9UDM9	Missense_Mutation	SNP	ENST00000377990.2	37	c.235C>T	CCDS1880.2	.	.	.	.	.	.	.	.	.	.	C	0.017	-1.488651	0.01018	.	.	ENSG00000011523	ENST00000377990;ENST00000546106;ENST00000260569;ENST00000545501	T;T;T	0.22539	1.95;1.95;1.95	4.56	0.946	0.19549	.	0.536715	0.17030	N	0.189750	T	0.06096	0.0158	N	0.02916	-0.46	0.09310	N	1	B;B;B;B;B	0.02656	0.0;0.0;0.0;0.0;0.0	B;B;B;B;B	0.04013	0.0;0.0;0.0;0.001;0.0	T	0.41270	-0.9518	10	0.02654	T	1	0.8787	6.9479	0.24528	0.0:0.2424:0.0:0.7576	.	67;79;79;79;79	F5H3N9;F5H2Y2;Q76N32;Q76N32-2;Q05C09	.;.;CEP68_HUMAN;.;.	Y	79;79;79;67	ENSP00000367229:H79Y;ENSP00000438306:H79Y;ENSP00000260569:H79Y	ENSP00000260569:H79Y	H	+	1	0	CEP68	65150317	0.000000	0.05858	0.000000	0.03702	0.012000	0.07955	0.004000	0.13106	0.162000	0.19483	-1.311000	0.01308	CAC		0.637	CEP68-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251727.2	NM_015147	
SUCLG1	8802	broad.mit.edu	37	2	84652596	84652596	+	Missense_Mutation	SNP	C	C	A			TCGA-32-5222-01A-01D-1486-08	TCGA-32-5222-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f48abf4d-f1fb-48bf-97a1-0c38435b6af7	fd30b963-9361-4b8d-a80a-37958b0a40d5	g.chr2:84652596C>A	ENST00000393868.2	-	8	1167	c.957G>T	c.(955-957)caG>caT	p.Q319H	SUCLG1_ENST00000491123.1_5'UTR	NM_003849.3	NP_003840.2	P53597	SUCA_HUMAN	succinate-CoA ligase, alpha subunit	319					cellular metabolic process (GO:0044237)|small molecule metabolic process (GO:0044281)|succinate metabolic process (GO:0006105)|succinyl-CoA metabolic process (GO:0006104)|tricarboxylic acid cycle (GO:0006099)	extracellular vesicular exosome (GO:0070062)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|succinate-CoA ligase complex (GDP-forming) (GO:0045244)	ATP citrate synthase activity (GO:0003878)|cofactor binding (GO:0048037)|GDP binding (GO:0019003)|GTP binding (GO:0005525)|poly(A) RNA binding (GO:0044822)|succinate-CoA ligase (ADP-forming) activity (GO:0004775)|succinate-CoA ligase (GDP-forming) activity (GO:0004776)			kidney(4)|large_intestine(4)|lung(2)	10					Succinic acid(DB00139)	CTCCTGCACTCTGAAGGGCAG	0.532																																					Ovarian(48;203 1101 37206 40305 50790)	uc002son.2																			0					0						c.(955-957)CAG>CAT		succinate-CoA ligase, GDP-forming alpha subunit	Succinic acid(DB00139)						128.0	115.0	119.0					2																	84652596		2203	4300	6503	SO:0001583	missense	8802				tricarboxylic acid cycle		ATP citrate synthase activity|GTP binding|succinate-CoA ligase (GDP-forming) activity	g.chr2:84652596C>A	Z68204	CCDS1967.2	2p11.3	2008-02-05	2008-01-08		ENSG00000163541	ENSG00000163541	6.2.1.4		11449	protein-coding gene	gene with protein product		611224	"""succinate-CoA ligase, GDP-forming, alpha subunit"""			9128182	Standard	NM_003849		Approved		uc002son.3	P53597	OTTHUMG00000130023	ENST00000393868.2:c.957G>T	2.37:g.84652596C>A	ENSP00000377446:p.Gln319His						p.Q319H	NM_003849	NP_003840	P53597	SUCA_HUMAN			8	1150	-			319					Q9BWB0|Q9UNP6	Missense_Mutation	SNP	ENST00000393868.2	37	c.957G>T	CCDS1967.2	.	.	.	.	.	.	.	.	.	.	C	19.08	3.757261	0.69648	.	.	ENSG00000163541	ENST00000393868	T	0.74106	-0.81	5.97	5.97	0.96955	Succinyl-CoA synthetase-like (2);ATP-citrate lyase/succinyl-CoA ligase (1);	0.000000	0.85682	D	0.000000	T	0.78194	0.4245	L	0.46741	1.465	0.80722	D	1	P	0.49635	0.926	P	0.51516	0.672	T	0.79349	-0.1840	10	0.72032	D	0.01	-19.052	17.9326	0.89002	0.0:1.0:0.0:0.0	.	319	P53597	SUCA_HUMAN	H	319	ENSP00000377446:Q319H	ENSP00000377446:Q319H	Q	-	3	2	SUCLG1	84506107	1.000000	0.71417	0.861000	0.33841	0.878000	0.50629	4.814000	0.62627	2.836000	0.97738	0.655000	0.94253	CAG		0.532	SUCLG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252298.2	NM_003849	
CD8B	926	broad.mit.edu	37	2	87073862	87073862	+	Silent	SNP	C	C	G			TCGA-32-5222-01A-01D-1486-08	TCGA-32-5222-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f48abf4d-f1fb-48bf-97a1-0c38435b6af7	fd30b963-9361-4b8d-a80a-37958b0a40d5	g.chr2:87073862C>G	ENST00000390655.6	-	4	586	c.528G>C	c.(526-528)ctG>ctC	p.L176L	CD8B_ENST00000393759.2_Silent_p.L176L|CD8B_ENST00000431506.2_Intron|CD8B_ENST00000349455.3_Intron|CD8B_ENST00000393761.2_Intron|CD8B_ENST00000331469.2_Silent_p.L176L	NM_004931.4	NP_004922.1	P10966	CD8B_HUMAN	CD8b molecule	176					immune response (GO:0006955)|regulation of defense response to virus by virus (GO:0050690)|regulation of immune response (GO:0050776)|T cell activation (GO:0042110)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|viral process (GO:0016032)	early endosome membrane (GO:0031901)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|T cell receptor complex (GO:0042101)	coreceptor activity (GO:0015026)|MHC class I protein binding (GO:0042288)			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(6)|skin(1)|upper_aerodigestive_tract(1)	13						CGCCAGCCACCAGCAGGCCAA	0.532																																						uc002srz.2																			0				upper_aerodigestive_tract(1)|skin(1)	2						c.(526-528)CTG>CTC		CD8b antigen isoform 5 precursor							52.0	41.0	45.0					2																	87073862		2188	4282	6470	SO:0001819	synonymous_variant	926				immune response|regulation of defense response to virus by virus|regulation of immune response|T cell activation|transmembrane receptor protein tyrosine kinase signaling pathway|viral reproduction	early endosome|extracellular region|integral to plasma membrane|T cell receptor complex	coreceptor activity|MHC class I protein binding	g.chr2:87073862C>G		CCDS1994.1, CCDS1995.1, CCDS42708.1, CCDS1997.1, CCDS54376.1	2p12	2013-01-11	2006-03-28	2006-03-09	ENSG00000172116	ENSG00000172116		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"""	1707	protein-coding gene	gene with protein product		186730	"""CD8 antigen, beta polypeptide 1 (p37)"""	CD8B1		1541829	Standard	NM_172213		Approved		uc002srw.3	P10966	OTTHUMG00000130264	ENST00000390655.6:c.528G>C	2.37:g.87073862C>G						RMND5A_uc002srs.3_Intron|CD8B_uc002srw.2_Silent_p.L176L|CD8B_uc002srx.2_Silent_p.L176L|CD8B_uc002sry.2_Intron|CD8B_uc010fgt.2_Intron|CD8B_uc002ssa.2_Silent_p.L176L|CD8B_uc010yto.1_Silent_p.L176L	p.L176L	NM_004931	NP_004922	P10966	CD8B_HUMAN			4	578	-			176			Helical; (Potential).		P14860|P14861|Q15980|Q496E0|Q496E1|Q496E2|Q9UDB4|Q9UDB5|Q9UDB6|Q9UDB7|Q9UDB8|Q9UDB9|Q9UDC0|Q9UQ55	Silent	SNP	ENST00000390655.6	37	c.528G>C	CCDS1997.1																																																																																				0.532	CD8B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330402.1	NM_172099	
TBC1D8	11138	broad.mit.edu	37	2	101670635	101670635	+	Missense_Mutation	SNP	C	C	T			TCGA-32-5222-01A-01D-1486-08	TCGA-32-5222-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f48abf4d-f1fb-48bf-97a1-0c38435b6af7	fd30b963-9361-4b8d-a80a-37958b0a40d5	g.chr2:101670635C>T	ENST00000376840.4	-	4	520	c.521G>A	c.(520-522)cGc>cAc	p.R174H	TBC1D8_ENST00000409318.1_Missense_Mutation_p.R189H			O95759	TBCD8_HUMAN	TBC1 domain family, member 8 (with GRAM domain)	174	GRAM 1.				blood circulation (GO:0008015)|positive regulation of cell proliferation (GO:0008284)	membrane (GO:0016020)	calcium ion binding (GO:0005509)|Rab GTPase activator activity (GO:0005097)			breast(1)|cervix(1)|endometrium(8)|kidney(3)|large_intestine(2)|lung(12)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	32						CCAGCCCTGGCGGGGCACCCT	0.587																																						uc010fiv.2																			0				ovary(3)	3						c.(520-522)CGC>CAC		TBC1 domain family, member 8							36.0	43.0	40.0					2																	101670635		2135	4274	6409	SO:0001583	missense	11138				blood circulation|positive regulation of cell proliferation	intracellular|membrane	calcium ion binding|Rab GTPase activator activity	g.chr2:101670635C>T	AB024057	CCDS46375.1	2q12.1	2011-11-30			ENSG00000204634	ENSG00000204634			17791	protein-coding gene	gene with protein product	"""BUB2-like protein 1"", ""vascular Rab-GAP/TBC-containing protein"""					10373574	Standard	NM_001102426		Approved	HBLP1, VRP, AD3	uc010fiv.3	O95759	OTTHUMG00000153040	ENST00000376840.4:c.521G>A	2.37:g.101670635C>T	ENSP00000366036:p.Arg174His					TBC1D8_uc010yvw.1_Missense_Mutation_p.R189H|TBC1D8_uc002tau.3_5'UTR	p.R174H	NM_001102426	NP_001095896	O95759	TBCD8_HUMAN			4	652	-			174			GRAM 1.		A6NDL4|A8K9W1|B9A6K4|Q53SQ4|Q9UQ32	Missense_Mutation	SNP	ENST00000376840.4	37	c.521G>A	CCDS46375.1	.	.	.	.	.	.	.	.	.	.	C	35	5.435529	0.96150	.	.	ENSG00000204634	ENST00000376840;ENST00000409318	D;D	0.87650	-2.28;-2.28	5.78	5.78	0.91487	GRAM (2);	.	.	.	.	D	0.93187	0.7830	M	0.67397	2.05	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.993	D	0.93022	0.6441	9	0.66056	D	0.02	-15.1167	20.0216	0.97506	0.0:1.0:0.0:0.0	.	189;174	B7Z6L4;O95759	.;TBCD8_HUMAN	H	174;189	ENSP00000366036:R174H;ENSP00000386856:R189H	ENSP00000366036:R174H	R	-	2	0	TBC1D8	101037067	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.688000	0.84153	2.735000	0.93741	0.650000	0.86243	CGC		0.587	TBC1D8-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376092.1	NM_007063	
IL1R2	7850	broad.mit.edu	37	2	102644815	102644815	+	Silent	SNP	A	A	G			TCGA-32-5222-01A-01D-1486-08	TCGA-32-5222-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f48abf4d-f1fb-48bf-97a1-0c38435b6af7	fd30b963-9361-4b8d-a80a-37958b0a40d5	g.chr2:102644815A>G	ENST00000332549.3	+	9	1387	c.1158A>G	c.(1156-1158)ctA>ctG	p.L386L	IL1R2_ENST00000485335.1_3'UTR|IL1R2_ENST00000393414.2_Silent_p.L386L	NM_004633.3	NP_004624.1	P27930	IL1R2_HUMAN	interleukin 1 receptor, type II	386					cytokine-mediated signaling pathway (GO:0019221)|immune response (GO:0006955)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	interleukin-1 receptor activity (GO:0004908)|interleukin-1, Type II, blocking receptor activity (GO:0004910)			breast(3)|endometrium(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|skin(1)	28						TGACTGTGCTATGGCCTCATC	0.448																																					Pancreas(106;189 1628 2302 5133 12295)	uc002tbm.2																			0				ovary(1)|breast(1)	2						c.(1156-1158)CTA>CTG		interleukin 1 receptor, type II precursor	Anakinra(DB00026)						135.0	111.0	119.0					2																	102644815		2203	4300	6503	SO:0001819	synonymous_variant	7850				immune response	integral to membrane|plasma membrane	interleukin-1, Type II, blocking receptor activity	g.chr2:102644815A>G	X59770	CCDS2054.1, CCDS58719.1	2q12	2013-01-11			ENSG00000115590	ENSG00000115590		"""Interleukins and interleukin receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5994	protein-coding gene	gene with protein product		147811		IL1RB		10191101, 1833184	Standard	NM_004633		Approved	CD121b	uc002tbm.3	P27930	OTTHUMG00000130695	ENST00000332549.3:c.1158A>G	2.37:g.102644815A>G						IL1R2_uc002tbn.2_Silent_p.L386L	p.L386L	NM_004633	NP_004624	P27930	IL1R2_HUMAN			9	1387	+			386			Cytoplasmic (Potential).		D3DVJ5|Q6LCE6|Q9UE68	Silent	SNP	ENST00000332549.3	37	c.1158A>G	CCDS2054.1																																																																																				0.448	IL1R2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253191.1	NM_004633	
IL18RAP	8807	broad.mit.edu	37	2	103040874	103040874	+	Splice_Site	SNP	G	G	A			TCGA-32-5222-01A-01D-1486-08	TCGA-32-5222-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f48abf4d-f1fb-48bf-97a1-0c38435b6af7	fd30b963-9361-4b8d-a80a-37958b0a40d5	g.chr2:103040874G>A	ENST00000264260.2	+	5	1168	c.579G>A	c.(577-579)aaG>aaA	p.K193K	IL18RAP_ENST00000409369.1_Splice_Site_p.K51K	NM_003853.2	NP_003844.1	O95256	I18RA_HUMAN	interleukin 18 receptor accessory protein	193	Ig-like C2-type 1.				cell surface receptor signaling pathway (GO:0007166)|immune response (GO:0006955)|inflammatory response (GO:0006954)	integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(4)	37						CCTGGTACAAGGTAAGAGTGA	0.413																																						uc002tbx.2																			0				skin(3)|ovary(2)	5						c.(577-579)AAG>AAA		interleukin 18 receptor accessory protein							72.0	73.0	73.0					2																	103040874		2203	4300	6503	SO:0001630	splice_region_variant	8807				cell surface receptor linked signaling pathway|inflammatory response|innate immune response	integral to membrane	transmembrane receptor activity	g.chr2:103040874G>A	AF077346	CCDS2061.1	2q12.1	2013-01-11			ENSG00000115607	ENSG00000115607		"""Interleukins and interleukin receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5989	protein-coding gene	gene with protein product		604509				9792649	Standard	XM_005264034		Approved	AcPL, CD218b	uc002tbx.3	O95256	OTTHUMG00000130777	ENST00000264260.2:c.579+1G>A	2.37:g.103040874G>A						IL18RAP_uc010fiz.2_Silent_p.K51K	p.K193K	NM_003853	NP_003844	O95256	I18RA_HUMAN			5	1063	+			193			Ig-like C2-type 1.|Extracellular (Potential).		B2RPJ3|Q3KPE7|Q3KPE8|Q53TT4|Q53TU5	Silent	SNP	ENST00000264260.2	37	c.579G>A	CCDS2061.1																																																																																				0.413	IL18RAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253291.2	NM_003853	Silent
IRS1	3667	broad.mit.edu	37	2	227660008	227660008	+	Silent	SNP	C	C	T			TCGA-32-5222-01A-01D-1486-08	TCGA-32-5222-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f48abf4d-f1fb-48bf-97a1-0c38435b6af7	fd30b963-9361-4b8d-a80a-37958b0a40d5	g.chr2:227660008C>T	ENST00000305123.5	-	1	4467	c.3447G>A	c.(3445-3447)gtG>gtA	p.V1149V	IRS1_ENST00000498335.1_5'Flank	NM_005544.2	NP_005535.1	P35568	IRS1_HUMAN	insulin receptor substrate 1	1149					cellular response to insulin stimulus (GO:0032869)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose homeostasis (GO:0042593)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|lipid catabolic process (GO:0016042)|mammary gland development (GO:0030879)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of insulin secretion (GO:0046676)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of fatty acid beta-oxidation (GO:0032000)|positive regulation of glucose import (GO:0046326)|positive regulation of glucose import in response to insulin stimulus (GO:2001275)|positive regulation of glucose metabolic process (GO:0010907)|positive regulation of glycogen biosynthetic process (GO:0045725)|positive regulation of insulin receptor signaling pathway (GO:0046628)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|protein kinase B signaling (GO:0043491)|protein localization to nucleus (GO:0034504)|regulation of gene expression (GO:0010468)|response to insulin (GO:0032868)|response to peptide hormone (GO:0043434)|signal transduction (GO:0007165)	caveola (GO:0005901)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|insulin receptor complex (GO:0005899)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	insulin receptor binding (GO:0005158)|insulin-like growth factor receptor binding (GO:0005159)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein kinase C binding (GO:0005080)|SH2 domain binding (GO:0042169)|signal transducer activity (GO:0004871)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)			autonomic_ganglia(1)|breast(2)|central_nervous_system(4)|endometrium(5)|kidney(4)|large_intestine(10)|lung(33)|ovary(6)|pancreas(1)|prostate(1)|urinary_tract(2)	69		Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23)		Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137)		GCCTCAGCCACACATTCTCAA	0.617																																						uc002voh.3																			0				lung(5)|central_nervous_system(4)|ovary(2)|pancreas(1)	12						c.(3445-3447)GTG>GTA		insulin receptor substrate 1							48.0	54.0	52.0					2																	227660008		2203	4300	6503	SO:0001819	synonymous_variant	3667				fibroblast growth factor receptor signaling pathway|glucose homeostasis|insulin receptor signaling pathway|negative regulation of insulin receptor signaling pathway|negative regulation of insulin secretion|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol-mediated signaling|positive regulation of fatty acid beta-oxidation|positive regulation of glucose import|positive regulation of glycogen biosynthetic process|positive regulation of insulin receptor signaling pathway|positive regulation of phosphatidylinositol 3-kinase activity	caveola|cytosol|insulin receptor complex|microsome|nucleus	insulin receptor binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase binding|protein kinase C binding|SH2 domain binding|transmembrane receptor protein tyrosine kinase adaptor activity	g.chr2:227660008C>T		CCDS2463.1	2q36	2013-01-10			ENSG00000169047	ENSG00000169047		"""Pleckstrin homology (PH) domain containing"""	6125	protein-coding gene	gene with protein product		147545				1648180	Standard	NM_005544		Approved	HIRS-1	uc002voh.4	P35568	OTTHUMG00000133179	ENST00000305123.5:c.3447G>A	2.37:g.227660008C>T							p.V1149V	NM_005544	NP_005535	P35568	IRS1_HUMAN		Epithelial(121;3.03e-11)|all cancers(144;2.42e-08)|Lung(261;0.00712)|LUSC - Lung squamous cell carcinoma(224;0.0137)	1	3499	-		Renal(207;0.023)|all_lung(227;0.0994)|all_hematologic(139;0.118)|Esophageal squamous(248;0.23)	1149						Silent	SNP	ENST00000305123.5	37	c.3447G>A	CCDS2463.1																																																																																				0.617	IRS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256886.3	NM_005544	
SLX4IP	128710	broad.mit.edu	37	20	10603963	10603963	+	Missense_Mutation	SNP	A	A	G			TCGA-32-5222-01A-01D-1486-08	TCGA-32-5222-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f48abf4d-f1fb-48bf-97a1-0c38435b6af7	fd30b963-9361-4b8d-a80a-37958b0a40d5	g.chr20:10603963A>G	ENST00000334534.5	+	8	1343	c.1163A>G	c.(1162-1164)gAa>gGa	p.E388G		NM_001009608.1	NP_001009608.1	Q5VYV7	SLX4I_HUMAN	SLX4 interacting protein	388																	ACAAACACTGAAAGATTATCT	0.428																																						uc010zre.1																			0					0						c.(1162-1164)GAA>GGA		hypothetical protein LOC128710							47.0	50.0	49.0					20																	10603963		2203	4300	6503	SO:0001583	missense	128710						protein binding	g.chr20:10603963A>G	AL035456	CCDS33439.1	20p12	2012-10-30	2012-10-30	2012-10-30	ENSG00000149346	ENSG00000149346			16225	protein-coding gene	gene with protein product		615958	"""chromosome 20 open reading frame 94"""	C20orf94		19596235	Standard	XM_005260664		Approved	dJ1099D15.3	uc010zre.2	Q5VYV7	OTTHUMG00000031873	ENST00000334534.5:c.1163A>G	20.37:g.10603963A>G	ENSP00000335557:p.Glu388Gly						p.E388G	NM_001009608	NP_001009608	Q5VYV7	CT094_HUMAN			8	1343	+			388					Q05CG2|Q05CT9	Missense_Mutation	SNP	ENST00000334534.5	37	c.1163A>G	CCDS33439.1	.	.	.	.	.	.	.	.	.	.	A	9.969	1.224926	0.22457	.	.	ENSG00000149346	ENST00000334534	T	0.58060	0.36	5.46	1.88	0.25563	.	0.522762	0.20644	N	0.088356	T	0.35128	0.0921	L	0.31926	0.97	0.09310	N	1	B	0.09022	0.002	B	0.10450	0.005	T	0.20672	-1.0268	10	0.45353	T	0.12	-1.9925	3.658	0.08228	0.659:0.1384:0.0706:0.132	.	388	Q5VYV7	CT094_HUMAN	G	388	ENSP00000335557:E388G	ENSP00000335557:E388G	E	+	2	0	C20orf94	10551963	0.897000	0.30589	0.018000	0.16275	0.721000	0.41392	2.052000	0.41316	0.096000	0.17463	-0.299000	0.09455	GAA		0.428	SLX4IP-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078000.3	NM_001009608	
PYGB	5834	broad.mit.edu	37	20	25255279	25255279	+	Missense_Mutation	SNP	C	C	T			TCGA-32-5222-01A-01D-1486-08	TCGA-32-5222-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f48abf4d-f1fb-48bf-97a1-0c38435b6af7	fd30b963-9361-4b8d-a80a-37958b0a40d5	g.chr20:25255279C>T	ENST00000216962.4	+	5	690	c.580C>T	c.(580-582)Cgg>Tgg	p.R194W		NM_002862.3	NP_002853.2	P11216	PYGB_HUMAN	phosphorylase, glycogen; brain	194					carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	glycogen phosphorylase activity (GO:0008184)|pyridoxal phosphate binding (GO:0030170)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(12)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	31						GGAGAAAGCGCGGCCTGAGTA	0.622																																						uc002wup.2																			0				central_nervous_system(1)|skin(1)	2						c.(580-582)CGG>TGG		brain glycogen phosphorylase	Pyridoxal Phosphate(DB00114)						86.0	87.0	87.0					20																	25255279		2203	4300	6503	SO:0001583	missense	5834				glucose metabolic process|glycogen catabolic process	cytoplasm	glycogen phosphorylase activity|pyridoxal phosphate binding	g.chr20:25255279C>T		CCDS13171.1	20p11.21	2013-03-01			ENSG00000100994	ENSG00000100994	2.4.1.1	"""Glycogen phosphorylases"""	9723	protein-coding gene	gene with protein product	"""glycogen phosphorylase, brain form"""	138550					Standard	NM_002862		Approved		uc002wup.3	P11216	OTTHUMG00000032117	ENST00000216962.4:c.580C>T	20.37:g.25255279C>T	ENSP00000216962:p.Arg194Trp						p.R194W	NM_002862	NP_002853	P11216	PYGB_HUMAN			5	689	+			194					Q96AK1|Q9NPX8	Missense_Mutation	SNP	ENST00000216962.4	37	c.580C>T	CCDS13171.1	.	.	.	.	.	.	.	.	.	.	C	24.0	4.476758	0.84640	.	.	ENSG00000100994	ENST00000216962	D	0.94576	-3.46	4.07	4.07	0.47477	.	0.000000	0.85682	D	0.000000	D	0.98346	0.9451	H	0.98199	4.17	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.99709	1.1006	10	0.87932	D	0	-29.5133	16.4345	0.83871	0.0:1.0:0.0:0.0	.	194	P11216	PYGB_HUMAN	W	194	ENSP00000216962:R194W	ENSP00000216962:R194W	R	+	1	2	PYGB	25203279	0.998000	0.40836	0.867000	0.34043	0.905000	0.53344	3.710000	0.54860	2.263000	0.75096	0.563000	0.77884	CGG		0.622	PYGB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078415.2	NM_002862	
TGM2	7052	broad.mit.edu	37	20	36760804	36760804	+	Missense_Mutation	SNP	T	T	A			TCGA-32-5222-01A-01D-1486-08	TCGA-32-5222-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f48abf4d-f1fb-48bf-97a1-0c38435b6af7	fd30b963-9361-4b8d-a80a-37958b0a40d5	g.chr20:36760804T>A	ENST00000361475.2	-	11	1887	c.1714A>T	c.(1714-1716)Atc>Ttc	p.I572F	TGM2_ENST00000536724.1_Missense_Mutation_p.I512F|TGM2_ENST00000536701.1_Missense_Mutation_p.I491F	NM_004613.2|NM_198951.1	NP_004604.2|NP_945189.1	P21980	TGM2_HUMAN	transglutaminase 2	572					apoptotic cell clearance (GO:0043277)|blood vessel remodeling (GO:0001974)|branching involved in salivary gland morphogenesis (GO:0060445)|isopeptide cross-linking via N6-(L-isoglutamyl)-L-lysine (GO:0018153)|negative regulation of endoplasmic reticulum calcium ion concentration (GO:0032471)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of inflammatory response (GO:0050729)|positive regulation of mitochondrial calcium ion concentration (GO:0051561)|positive regulation of smooth muscle cell proliferation (GO:0048661)|protein homooligomerization (GO:0051260)|salivary gland cavitation (GO:0060662)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)			endometrium(2)|large_intestine(11)|liver(1)|lung(7)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32		Myeloproliferative disorder(115;0.00878)			L-Glutamine(DB00130)	TAGCTGTTGATAACTGGCTCC	0.567																																						uc002xhr.2																			0				large_intestine(1)|lung(1)|ovary(1)	3						c.(1714-1716)ATC>TTC		transglutaminase 2 isoform a	L-Glutamine(DB00130)						155.0	154.0	155.0					20																	36760804		2203	4300	6503	SO:0001583	missense	7052				apoptotic cell clearance|peptide cross-linking|positive regulation of cell adhesion		acyltransferase activity|metal ion binding|protein binding|protein-glutamine gamma-glutamyltransferase activity	g.chr20:36760804T>A	M98478	CCDS13302.1	20q12	2013-05-02	2013-05-02		ENSG00000198959	ENSG00000198959	2.3.2.13	"""Transglutaminases"""	11778	protein-coding gene	gene with protein product	"""C polypeptide, protein-glutamine-gamma-glutamyltransferase"""	190196	"""transglutaminase 2 (C polypeptide, protein-glutamine-gamma-glutamyltransferase)"""			7912692, 11390390	Standard	NM_004613		Approved	TGC	uc002xhr.3	P21980	OTTHUMG00000032437	ENST00000361475.2:c.1714A>T	20.37:g.36760804T>A	ENSP00000355330:p.Ile572Phe					TGM2_uc002xhq.2_Missense_Mutation_p.I173F|TGM2_uc010zvx.1_Missense_Mutation_p.I491F|TGM2_uc010zvy.1_Missense_Mutation_p.I512F|TGM2_uc002xhs.1_Missense_Mutation_p.I548F	p.I572F	NM_004613	NP_004604	P21980	TGM2_HUMAN			11	1814	-		Myeloproliferative disorder(115;0.00878)	572					E1P5V9|Q16436|Q6B838|Q9BTN7|Q9UH35	Missense_Mutation	SNP	ENST00000361475.2	37	c.1714A>T	CCDS13302.1	.	.	.	.	.	.	.	.	.	.	T	7.821	0.717823	0.15372	.	.	ENSG00000198959	ENST00000361475;ENST00000536701;ENST00000536724	T;T;T	0.29397	1.57;1.57;1.57	4.63	-2.19	0.07015	Transglutaminase, C-terminal (1);Immunoglobulin-like fold (1);	1.426930	0.04288	N	0.345040	T	0.15132	0.0365	N	0.08118	0	0.09310	N	1	B;B;B;B	0.06786	0.001;0.0;0.001;0.0	B;B;B;B	0.06405	0.001;0.002;0.001;0.002	T	0.32188	-0.9916	10	0.87932	D	0	-10.4288	3.7377	0.08517	0.4093:0.1678:0.0:0.4229	.	512;491;512;572	F5H6P0;B4DIT7;B4DTN7;P21980	.;.;.;TGM2_HUMAN	F	572;491;512	ENSP00000355330:I572F;ENSP00000444701:I491F;ENSP00000437479:I512F	ENSP00000355330:I572F	I	-	1	0	TGM2	36194218	0.000000	0.05858	0.080000	0.20451	0.043000	0.13939	-0.332000	0.07904	0.001000	0.14605	-0.509000	0.04479	ATC		0.567	TGM2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079151.2	NM_198951	
ARFGEF2	10564	broad.mit.edu	37	20	47585807	47585807	+	Missense_Mutation	SNP	G	G	A			TCGA-32-5222-01A-01D-1486-08	TCGA-32-5222-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f48abf4d-f1fb-48bf-97a1-0c38435b6af7	fd30b963-9361-4b8d-a80a-37958b0a40d5	g.chr20:47585807G>A	ENST00000371917.4	+	9	1183	c.1183G>A	c.(1183-1185)Gac>Aac	p.D395N		NM_006420.2	NP_006411.2	Q9Y6D5	BIG2_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited)	395					endomembrane system organization (GO:0010256)|endosome organization (GO:0007032)|exocytosis (GO:0006887)|Golgi to plasma membrane transport (GO:0006893)|intracellular signal transduction (GO:0035556)|positive regulation of GTPase activity (GO:0043547)|positive regulation of tumor necrosis factor production (GO:0032760)|protein transport (GO:0015031)|receptor recycling (GO:0001881)|regulation of ARF protein signal transduction (GO:0032012)|vesicle-mediated transport (GO:0016192)	asymmetric synapse (GO:0032279)|axonemal microtubule (GO:0005879)|cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|Golgi membrane (GO:0000139)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|recycling endosome (GO:0055037)|symmetric synapse (GO:0032280)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|GABA receptor binding (GO:0050811)|guanyl-nucleotide exchange factor activity (GO:0005085)|protein kinase A regulatory subunit binding (GO:0034237)			breast(7)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	63			BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198)			AGGCCCTCCAGACCCAAAGTA	0.527																																					Esophageal Squamous(176;1738 1974 26285 33069 35354)	uc002xtx.3																			0				breast(3)|upper_aerodigestive_tract(1)	4						c.(1183-1185)GAC>AAC		ADP-ribosylation factor guanine							148.0	112.0	124.0					20																	47585807		2203	4300	6503	SO:0001583	missense	10564				exocytosis|intracellular signal transduction|regulation of ARF protein signal transduction	cytosol|Golgi membrane	ARF guanyl-nucleotide exchange factor activity	g.chr20:47585807G>A	AF084521	CCDS13411.1	20q13.13	2010-08-20			ENSG00000124198	ENSG00000124198		"""A-kinase anchor proteins"""	15853	protein-coding gene	gene with protein product	"""Brefeldin A-inhibited guanine nucleotide-exchange protein 2"""	605371				10212200	Standard	NM_006420		Approved	BIG2	uc002xtx.4	Q9Y6D5	OTTHUMG00000032687	ENST00000371917.4:c.1183G>A	20.37:g.47585807G>A	ENSP00000360985:p.Asp395Asn						p.D395N	NM_006420	NP_006411	Q9Y6D5	BIG2_HUMAN	BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198)		9	1335	+			395					Q5TFT9|Q9NTS1	Missense_Mutation	SNP	ENST00000371917.4	37	c.1183G>A	CCDS13411.1	.	.	.	.	.	.	.	.	.	.	G	24.0	4.477402	0.84640	.	.	ENSG00000124198	ENST00000538445;ENST00000371917	T	0.50001	0.76	5.91	5.91	0.95273	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.69033	0.3066	M	0.88310	2.945	0.80722	D	1	P	0.45011	0.848	P	0.50825	0.651	T	0.73388	-0.3998	10	0.62326	D	0.03	.	20.2985	0.98592	0.0:0.0:1.0:0.0	.	395	Q9Y6D5	BIG2_HUMAN	N	395	ENSP00000360985:D395N	ENSP00000360985:D395N	D	+	1	0	ARFGEF2	47019214	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.869000	0.99810	2.793000	0.96121	0.655000	0.94253	GAC		0.527	ARFGEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079627.1	NM_006420	
ARFGEF2	10564	broad.mit.edu	37	20	47591341	47591341	+	Silent	SNP	G	G	A			TCGA-32-5222-01A-01D-1486-08	TCGA-32-5222-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f48abf4d-f1fb-48bf-97a1-0c38435b6af7	fd30b963-9361-4b8d-a80a-37958b0a40d5	g.chr20:47591341G>A	ENST00000371917.4	+	13	1704	c.1704G>A	c.(1702-1704)gtG>gtA	p.V568V		NM_006420.2	NP_006411.2	Q9Y6D5	BIG2_HUMAN	ADP-ribosylation factor guanine nucleotide-exchange factor 2 (brefeldin A-inhibited)	568					endomembrane system organization (GO:0010256)|endosome organization (GO:0007032)|exocytosis (GO:0006887)|Golgi to plasma membrane transport (GO:0006893)|intracellular signal transduction (GO:0035556)|positive regulation of GTPase activity (GO:0043547)|positive regulation of tumor necrosis factor production (GO:0032760)|protein transport (GO:0015031)|receptor recycling (GO:0001881)|regulation of ARF protein signal transduction (GO:0032012)|vesicle-mediated transport (GO:0016192)	asymmetric synapse (GO:0032279)|axonemal microtubule (GO:0005879)|cell junction (GO:0030054)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|Golgi membrane (GO:0000139)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|recycling endosome (GO:0055037)|symmetric synapse (GO:0032280)|trans-Golgi network (GO:0005802)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|GABA receptor binding (GO:0050811)|guanyl-nucleotide exchange factor activity (GO:0005085)|protein kinase A regulatory subunit binding (GO:0034237)			breast(7)|cervix(2)|endometrium(8)|kidney(4)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	63			BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198)			AGTGCCTCGTGTCCATTCTCA	0.517																																					Esophageal Squamous(176;1738 1974 26285 33069 35354)	uc002xtx.3																			0				breast(3)|upper_aerodigestive_tract(1)	4						c.(1702-1704)GTG>GTA		ADP-ribosylation factor guanine							107.0	93.0	98.0					20																	47591341		2203	4300	6503	SO:0001819	synonymous_variant	10564				exocytosis|intracellular signal transduction|regulation of ARF protein signal transduction	cytosol|Golgi membrane	ARF guanyl-nucleotide exchange factor activity	g.chr20:47591341G>A	AF084521	CCDS13411.1	20q13.13	2010-08-20			ENSG00000124198	ENSG00000124198		"""A-kinase anchor proteins"""	15853	protein-coding gene	gene with protein product	"""Brefeldin A-inhibited guanine nucleotide-exchange protein 2"""	605371				10212200	Standard	NM_006420		Approved	BIG2	uc002xtx.4	Q9Y6D5	OTTHUMG00000032687	ENST00000371917.4:c.1704G>A	20.37:g.47591341G>A							p.V568V	NM_006420	NP_006411	Q9Y6D5	BIG2_HUMAN	BRCA - Breast invasive adenocarcinoma(12;0.00148)|Colorectal(8;0.198)		13	1856	+			568					Q5TFT9|Q9NTS1	Silent	SNP	ENST00000371917.4	37	c.1704G>A	CCDS13411.1																																																																																				0.517	ARFGEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079627.1	NM_006420	
ZFP64	55734	broad.mit.edu	37	20	50769893	50769893	+	Missense_Mutation	SNP	C	C	T			TCGA-32-5222-01A-01D-1486-08	TCGA-32-5222-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f48abf4d-f1fb-48bf-97a1-0c38435b6af7	fd30b963-9361-4b8d-a80a-37958b0a40d5	g.chr20:50769893C>T	ENST00000216923.4	-	6	1187	c.838G>A	c.(838-840)Gtg>Atg	p.V280M	ZFP64_ENST00000371518.2_Intron|ZFP64_ENST00000371515.4_Missense_Mutation_p.V278M|ZFP64_ENST00000346617.4_Missense_Mutation_p.V226M|ZFP64_ENST00000477786.1_Intron|ZFP64_ENST00000361387.2_Intron	NM_018197.2|NM_199426.1	NP_060667.2|NP_955458.1	Q9NPA5	ZF64A_HUMAN	ZFP64 zinc finger protein	280					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(5)|large_intestine(8)|lung(11)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	33						CCCGAGTGCACCCGCATGTGC	0.552																																						uc002xwl.2																			0				upper_aerodigestive_tract(1)|ovary(1)	2						c.(838-840)GTG>ATG		zinc finger protein 64 isoform a							74.0	66.0	69.0					20																	50769893		2203	4300	6503	SO:0001583	missense	55734				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr20:50769893C>T	AK001596	CCDS13439.1, CCDS13440.1, CCDS13441.1, CCDS13442.1	20q13.11-q13.13	2013-01-08	2012-11-27		ENSG00000020256	ENSG00000020256		"""Zinc fingers, C2H2-type"""	15940	protein-coding gene	gene with protein product			"""zinc finger protein 338"", ""zinc finger protein 64 homolog (mouse)"", ""zinc finger protein 64"""	ZNF338		9034307	Standard	NM_199427		Approved	FLJ10734, dJ831D17.1, FLJ12628, dJ548G19.1	uc002xwl.3	Q9NPA5	OTTHUMG00000032756	ENST00000216923.4:c.838G>A	20.37:g.50769893C>T	ENSP00000216923:p.Val280Met					ZFP64_uc002xwk.2_Intron|ZFP64_uc002xwm.2_Missense_Mutation_p.V278M|ZFP64_uc002xwn.2_Missense_Mutation_p.V226M	p.V280M	NM_018197	NP_060667	Q9NPA5	ZF64A_HUMAN			6	1187	-			280			C2H2-type 4.		Q9NTS7|Q9NVH4	Missense_Mutation	SNP	ENST00000216923.4	37	c.838G>A	CCDS13440.1	.	.	.	.	.	.	.	.	.	.	C	19.95	3.922180	0.73213	.	.	ENSG00000020256	ENST00000216923;ENST00000346617;ENST00000371515;ENST00000546083;ENST00000371516	T;T;T	0.20069	2.1;2.1;2.1	5.86	5.86	0.93980	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.53938	D	0.000055	T	0.47820	0.1466	M	0.64630	1.985	0.49798	D	0.999823	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.91635	0.999;0.984;0.985	T	0.35375	-0.9791	10	0.72032	D	0.01	-19.1669	20.1865	0.98220	0.0:1.0:0.0:0.0	.	226;278;280	Q9NPA5-2;Q5JWM1;Q9NPA5	.;.;ZF64A_HUMAN	M	280;226;278;122;433	ENSP00000216923:V280M;ENSP00000344615:V226M;ENSP00000360570:V278M	ENSP00000216923:V280M	V	-	1	0	ZFP64	50203300	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.841000	0.55850	2.775000	0.95449	0.655000	0.94253	GTG		0.552	ZFP64-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000079744.1	NM_018197	
SLC17A9	63910	broad.mit.edu	37	20	61596500	61596500	+	Silent	SNP	G	G	A	rs370727216		TCGA-32-5222-01A-01D-1486-08	TCGA-32-5222-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f48abf4d-f1fb-48bf-97a1-0c38435b6af7	fd30b963-9361-4b8d-a80a-37958b0a40d5	g.chr20:61596500G>A	ENST00000370351.4	+	9	1058	c.927G>A	c.(925-927)acG>acA	p.T309T	SLC17A9_ENST00000370349.3_Silent_p.T303T|SLC17A9_ENST00000488738.1_3'UTR	NM_022082.3	NP_071365	Q9BYT1	S17A9_HUMAN	solute carrier family 17 (vesicular nucleotide transporter), member 9	309					exocytosis (GO:0006887)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)	transporter activity (GO:0005215)			endometrium(2)|kidney(1)|large_intestine(6)|lung(8)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	23						GAGCCATCACGGTGCGGAAGC	0.587																																						uc002yea.3																			0				ovary(1)|skin(1)	2						c.(925-927)ACG>ACA		vesicular nucleotide transporter SLC17A9		G		1,3925		0,1,1962	87.0	92.0	90.0		927	-10.3	0.2	20		90	0,8284		0,0,4142	no	coding-synonymous	SLC17A9	NM_022082.3		0,1,6104	AA,AG,GG		0.0,0.0255,0.0082		309/437	61596500	1,12209	1963	4142	6105	SO:0001819	synonymous_variant	63910				exocytosis|transmembrane transport	integral to membrane	transporter activity	g.chr20:61596500G>A	AK027065	CCDS42901.1	20q13.33	2013-07-18	2013-07-18	2009-01-22	ENSG00000101194	ENSG00000101194		"""Solute carriers"""	16192	protein-coding gene	gene with protein product		612107	"""chromosome 20 open reading frame 59"", ""solute carrier family 17, member 9"""	C20orf59		18375752	Standard	NM_022082		Approved	FLJ23412, VNUT	uc002yea.4	Q9BYT1	OTTHUMG00000032951	ENST00000370351.4:c.927G>A	20.37:g.61596500G>A						SLC17A9_uc002ydz.3_Silent_p.T303T|SLC17A9_uc011aap.1_Silent_p.T329T	p.T309T	NM_022082	NP_071365	Q9BYT1	S17A9_HUMAN			9	1111	+			309					B3KTF2|Q5W198|Q8TB07|Q8TBP4|Q8TEL5|Q9BYT0|Q9BYT2	Silent	SNP	ENST00000370351.4	37	c.927G>A	CCDS42901.1																																																																																				0.587	SLC17A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080100.1	NM_022082	
ZNF280A	129025	broad.mit.edu	37	22	22868791	22868791	+	Missense_Mutation	SNP	C	C	A			TCGA-32-5222-01A-01D-1486-08	TCGA-32-5222-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f48abf4d-f1fb-48bf-97a1-0c38435b6af7	fd30b963-9361-4b8d-a80a-37958b0a40d5	g.chr22:22868791C>A	ENST00000302097.3	-	2	1416	c.1164G>T	c.(1162-1164)aaG>aaT	p.K388N		NM_080740.3	NP_542778.1	P59817	Z280A_HUMAN	zinc finger protein 280A	388					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|large_intestine(4)|lung(8)|ovary(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	18	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)		READ - Rectum adenocarcinoma(21;0.145)		TTTCGCCAGGCTTATGATGGT	0.458																																						uc002zwe.2																			0				ovary(1)	1						c.(1162-1164)AAG>AAT		zinc finger protein 280A							110.0	91.0	97.0					22																	22868791		2203	4297	6500	SO:0001583	missense	129025				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr22:22868791C>A	D87009	CCDS13800.1	22q11.21	2007-09-20	2007-09-20	2007-09-20	ENSG00000169548	ENSG00000169548			18597	protein-coding gene	gene with protein product			"""zinc finger protein 280"", ""suppressor of hairy wing homolog 1 (Drosophila)"""	ZNF280, SUHW1		9074928	Standard	NM_080740		Approved	3'OY11.1, ZNF636	uc002zwe.3	P59817	OTTHUMG00000030545	ENST00000302097.3:c.1164G>T	22.37:g.22868791C>A	ENSP00000302855:p.Lys388Asn					LOC96610_uc011aim.1_Intron	p.K388N	NM_080740	NP_542778	P59817	Z280A_HUMAN		READ - Rectum adenocarcinoma(21;0.145)	2	1417	-	all_hematologic(9;0.0135)|Acute lymphoblastic leukemia(84;0.17)	all_hematologic(6;1.74e-30)|Acute lymphoblastic leukemia(6;7.75e-22)	388						Missense_Mutation	SNP	ENST00000302097.3	37	c.1164G>T	CCDS13800.1	.	.	.	.	.	.	.	.	.	.	C	17.27	3.345794	0.61073	.	.	ENSG00000169548	ENST00000302097	T	0.27890	1.64	3.9	-0.985	0.10256	.	.	.	.	.	T	0.50103	0.1596	M	0.73598	2.24	0.27689	N	0.946178	D	0.89917	1.0	D	0.87578	0.998	T	0.42137	-0.9469	9	0.87932	D	0	-7.3539	8.3671	0.32393	0.0:0.6284:0.0:0.3716	.	388	P59817	Z280A_HUMAN	N	388	ENSP00000302855:K388N	ENSP00000302855:K388N	K	-	3	2	ZNF280A	21198791	0.800000	0.28916	0.956000	0.39512	0.983000	0.72400	-0.176000	0.09811	-0.127000	0.11661	0.655000	0.94253	AAG		0.458	ZNF280A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000075433.3	NM_080740	
PPP6R2	9701	broad.mit.edu	37	22	50860803	50860803	+	Silent	SNP	G	G	A			TCGA-32-5222-01A-01D-1486-08	TCGA-32-5222-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f48abf4d-f1fb-48bf-97a1-0c38435b6af7	fd30b963-9361-4b8d-a80a-37958b0a40d5	g.chr22:50860803G>A	ENST00000216061.5	+	10	1336	c.966G>A	c.(964-966)ccG>ccA	p.P322P	PPP6R2_ENST00000359139.3_Silent_p.P322P|PPP6R2_ENST00000395744.3_Silent_p.P322P|PPP6R2_ENST00000395741.3_Silent_p.P323P			O75170	PP6R2_HUMAN	protein phosphatase 6, regulatory subunit 2	322						cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|liver(1)|lung(6)|ovary(2)|skin(1)|urinary_tract(1)	22						TGCTCAACCCGCCCAAGGTAA	0.582																																						uc003blb.1																			0					0						c.(964-966)CCG>CCA		SAPS domain family, member 2							80.0	68.0	72.0					22																	50860803		2203	4300	6503	SO:0001819	synonymous_variant	9701					cytoplasm|intracellular membrane-bounded organelle	protein binding	g.chr22:50860803G>A	AB014585	CCDS33681.1, CCDS56235.1, CCDS56236.1, CCDS74881.1	22q13.33	2012-04-17	2010-06-28	2010-06-28	ENSG00000100239	ENSG00000100239		"""Serine/threonine phosphatases / Protein phosphatase 6, regulatory subunits"""	19253	protein-coding gene	gene with protein product		610877	"""KIAA0685"", ""SAPS domain family, member 2"""	KIAA0685, SAPS2		16769727	Standard	NM_014678		Approved	dJ579N16.1, SAP190	uc003blc.3	O75170	OTTHUMG00000150199	ENST00000216061.5:c.966G>A	22.37:g.50860803G>A						SAPS2_uc003bky.1_Silent_p.P322P|SAPS2_uc003bkz.1_Silent_p.P322P|SAPS2_uc003blc.2_Silent_p.P322P|SAPS2_uc003bla.1_Silent_p.P323P|uc011arw.1_5'Flank	p.P322P	NM_014678	NP_055493	O75170	PP6R2_HUMAN		BRCA - Breast invasive adenocarcinoma(115;0.222)	10	1388	+		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)	322					A6PVG3|B7Z7T3|Q5U5P3|Q7Z2L2|Q7Z5G5|Q7Z731|Q9UGB9	Silent	SNP	ENST00000216061.5	37	c.966G>A																																																																																					0.582	PPP6R2-004	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000316809.1	NM_014678	
CAMK1	8536	broad.mit.edu	37	3	9802446	9802446	+	Silent	SNP	G	G	A	rs138951531		TCGA-32-5222-01A-01D-1486-08	TCGA-32-5222-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f48abf4d-f1fb-48bf-97a1-0c38435b6af7	fd30b963-9361-4b8d-a80a-37958b0a40d5	g.chr3:9802446G>A	ENST00000256460.3	-	8	816	c.639C>T	c.(637-639)tgC>tgT	p.C213C	OGG1_ENST00000449570.2_Intron|OGG1_ENST00000302008.8_Intron|OGG1_ENST00000349503.5_Intron|OGG1_ENST00000302036.7_Intron|OGG1_ENST00000383826.5_Intron	NM_003656.4	NP_003647.1	Q14012	KCC1A_HUMAN	calcium/calmodulin-dependent protein kinase I	213	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell cycle (GO:0007049)|nucleocytoplasmic transport (GO:0006913)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of neuron projection development (GO:0010976)|positive regulation of protein export from nucleus (GO:0046827)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of synapse structural plasticity (GO:0051835)|protein phosphorylation (GO:0006468)|regulation of muscle cell differentiation (GO:0051147)|regulation of protein binding (GO:0043393)|regulation of protein localization (GO:0032880)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)			endometrium(1)|large_intestine(3)|lung(6)|ovary(1)|skin(1)	12	Medulloblastoma(99;0.227)			OV - Ovarian serous cystadenocarcinoma(96;0.0475)		GAGGGTAACCGCAGAGCCTGG	0.557																																						uc003bst.2																			0				ovary(1)|skin(1)	2						c.(637-639)TGC>TGT		calcium/calmodulin-dependent protein kinase I		G	,,,,,	0,4406		0,0,2203	77.0	72.0	74.0		639,,,,,	1.2	1.0	3	dbSNP_134	74	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,intron,intron,intron,intron,intron	OGG1,CAMK1	NM_003656.4,NM_016821.2,NM_016826.2,NM_016827.2,NM_016828.2,NM_016829.2	,,,,,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,,,,,	213/371,,,,,	9802446	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	8536				cell differentiation|nervous system development|positive regulation of muscle cell differentiation|signal transduction	cytoplasm|nucleus	ATP binding|calmodulin binding|calmodulin-dependent protein kinase activity	g.chr3:9802446G>A	L41816	CCDS2582.1	3p25.3	2004-02-27			ENSG00000134072	ENSG00000134072			1459	protein-coding gene	gene with protein product		604998				7641687	Standard	NM_003656		Approved	CaMKI	uc003bst.3	Q14012	OTTHUMG00000128419	ENST00000256460.3:c.639C>T	3.37:g.9802446G>A						OGG1_uc003bsk.2_Intron|OGG1_uc003bsl.2_Intron|OGG1_uc003bsm.2_Intron|OGG1_uc003bsn.2_Intron|OGG1_uc003bso.2_Intron|CAMK1_uc003bsu.2_RNA|CAMK1_uc003bss.2_5'Flank|uc003bsv.1_RNA	p.C213C	NM_003656	NP_003647	Q14012	KCC1A_HUMAN		OV - Ovarian serous cystadenocarcinoma(96;0.0475)	8	817	-	Medulloblastoma(99;0.227)		213			Protein kinase.		Q3KPF6	Silent	SNP	ENST00000256460.3	37	c.639C>T	CCDS2582.1	.	.	.	.	.	.	.	.	.	.	G	9.098	1.003512	0.19121	0.0	1.16E-4	ENSG00000134072	ENST00000421120	.	.	.	5.13	1.2	0.21068	.	.	.	.	.	T	0.55178	0.1904	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.45352	-0.9267	4	.	.	.	-14.9127	7.9807	0.30181	0.4607:0.0:0.5393:0.0	.	.	.	.	W	60	.	.	R	-	1	2	CAMK1	9777446	0.995000	0.38212	0.998000	0.56505	0.817000	0.46193	0.397000	0.20883	0.160000	0.19432	-0.136000	0.14681	CGG		0.557	CAMK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250206.1	NM_003656	
ENTPD3	956	broad.mit.edu	37	3	40457378	40457378	+	Silent	SNP	G	G	A			TCGA-32-5222-01A-01D-1486-08	TCGA-32-5222-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f48abf4d-f1fb-48bf-97a1-0c38435b6af7	fd30b963-9361-4b8d-a80a-37958b0a40d5	g.chr3:40457378G>A	ENST00000301825.3	+	7	763	c.645G>A	c.(643-645)acG>acA	p.T215T	ENTPD3-AS1_ENST00000425156.1_RNA|ENTPD3-AS1_ENST00000439293.1_RNA|ENTPD3_ENST00000445129.1_Silent_p.T215T|ENTPD3-AS1_ENST00000452768.1_RNA|ENTPD3_ENST00000456402.1_Silent_p.T215T	NM_001248.2	NP_001239.2	O75355	ENTP3_HUMAN	ectonucleoside triphosphate diphosphohydrolase 3	215					nucleoside diphosphate catabolic process (GO:0009134)|nucleoside triphosphate catabolic process (GO:0009143)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|nucleoside-diphosphatase activity (GO:0017110)|nucleoside-triphosphatase activity (GO:0017111)			endometrium(1)|kidney(3)|large_intestine(5)|lung(4)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18				KIRC - Kidney renal clear cell carcinoma(284;0.0605)|Kidney(284;0.0758)		TGGAAACCACGGGTGCCCTGG	0.537																																						uc003ckd.3																			0				ovary(1)	1						c.(643-645)ACG>ACA		ectonucleoside triphosphate diphosphohydrolase							88.0	73.0	78.0					3																	40457378		2203	4300	6503	SO:0001819	synonymous_variant	956					integral to membrane	ATP binding|hydrolase activity	g.chr3:40457378G>A	AF039917	CCDS2691.1, CCDS74919.1	3p21.3	2004-02-26			ENSG00000168032	ENSG00000168032			3365	protein-coding gene	gene with protein product		603161		CD39L3		9676430	Standard	XM_005265605		Approved	NTPDase-3, HB6	uc003ckd.4	O75355	OTTHUMG00000131390	ENST00000301825.3:c.645G>A	3.37:g.40457378G>A						ENTPD3_uc010hhy.2_Silent_p.T215T|uc003cke.3_Intron	p.T215T	NM_001248	NP_001239	O75355	ENTP3_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0605)|Kidney(284;0.0758)	7	737	+			215			Extracellular (Potential).		B2R8D0|G5E9N0|O60495|Q8N6K2	Silent	SNP	ENST00000301825.3	37	c.645G>A	CCDS2691.1																																																																																				0.537	ENTPD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254179.2	NM_001248	
TRAK1	22906	broad.mit.edu	37	3	42261046	42261046	+	Missense_Mutation	SNP	G	G	A			TCGA-32-5222-01A-01D-1486-08	TCGA-32-5222-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f48abf4d-f1fb-48bf-97a1-0c38435b6af7	fd30b963-9361-4b8d-a80a-37958b0a40d5	g.chr3:42261046G>A	ENST00000327628.5	+	15	2424	c.2024G>A	c.(2023-2025)cGc>cAc	p.R675H	TRAK1_ENST00000396175.1_Missense_Mutation_p.R617H|TRAK1_ENST00000487159.1_3'UTR|RNU4-78P_ENST00000410940.1_RNA	NM_001042646.2	NP_001036111.1	Q9UPV9	TRAK1_HUMAN	trafficking protein, kinesin binding 1	675					endosome to lysosome transport (GO:0008333)|protein O-linked glycosylation (GO:0006493)|protein targeting (GO:0006605)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|mitochondrion (GO:0005739)|nucleus (GO:0005634)				central_nervous_system(2)|endometrium(1)|kidney(2)|large_intestine(8)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	22						ACCACCTGTCGCATCCTGCAT	0.552																																					GBM(44;195 884 22595 31865 41850)	uc003cky.2																			0				ovary(1)	1						c.(2023-2025)CGC>CAC		OGT(O-Glc-NAc transferase)-interacting protein							220.0	214.0	216.0					3																	42261046		2065	4210	6275	SO:0001583	missense	22906				endosome to lysosome transport|protein O-linked glycosylation|protein targeting|regulation of transcription from RNA polymerase II promoter	early endosome|mitochondrion|nucleus		g.chr3:42261046G>A		CCDS2695.1, CCDS43072.1, CCDS58826.1, CCDS74922.1	3p22.1	2012-03-05			ENSG00000182606	ENSG00000182606			29947	protein-coding gene	gene with protein product	"""OGT(O Glc NAc transferase) interacting protein 106 KDa"", ""O-linked N-acetylglucosamine transferase interacting protein 106"", ""milton homolog 1 (Drosophila)"""	608112				10470851, 12435728, 16380713, 20230862	Standard	NM_014965		Approved	OIP106, KIAA1042, MILT1	uc003cky.4	Q9UPV9	OTTHUMG00000131795	ENST00000327628.5:c.2024G>A	3.37:g.42261046G>A	ENSP00000328998:p.Arg675His					TRAK1_uc011azi.1_Missense_Mutation_p.R654H	p.R675H	NM_001042646	NP_001036111	Q9UPV9	TRAK1_HUMAN			15	2240	+			675					E9PDS2|J3KNT7|Q63HR0|Q659B5|Q96B69	Missense_Mutation	SNP	ENST00000327628.5	37	c.2024G>A	CCDS43072.1	.	.	.	.	.	.	.	.	.	.	G	26.4	4.732925	0.89482	.	.	ENSG00000182606	ENST00000327628;ENST00000543338;ENST00000396175	T;T	0.10573	2.88;2.86	5.27	4.37	0.52481	.	0.062767	0.64402	D	0.000009	T	0.29882	0.0747	M	0.64404	1.975	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.76071	0.972;0.987	T	0.02728	-1.1118	10	0.72032	D	0.01	.	14.3315	0.66559	0.0:0.0:0.8505:0.1495	.	617;675	C9JC32;Q9UPV9	.;TRAK1_HUMAN	H	675;654;617	ENSP00000328998:R675H;ENSP00000379478:R617H	ENSP00000328998:R675H	R	+	2	0	TRAK1	42236050	1.000000	0.71417	0.979000	0.43373	0.937000	0.57800	9.743000	0.98849	1.280000	0.44463	0.591000	0.81541	CGC		0.552	TRAK1-004	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343413.1	NM_014965	
DOCK3	1795	broad.mit.edu	37	3	51418534	51418534	+	Silent	SNP	C	C	T			TCGA-32-5222-01A-01D-1486-08	TCGA-32-5222-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f48abf4d-f1fb-48bf-97a1-0c38435b6af7	fd30b963-9361-4b8d-a80a-37958b0a40d5	g.chr3:51418534C>T	ENST00000266037.9	+	53	5660	c.5637C>T	c.(5635-5637)gaC>gaT	p.D1879D		NM_004947.4	NP_004938.1	Q8IZD9	DOCK3_HUMAN	dedicator of cytokinesis 3	1879					small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)	guanyl-nucleotide exchange factor activity (GO:0005085)			breast(2)|cervix(1)|endometrium(10)|kidney(4)|lung(22)|prostate(5)|urinary_tract(1)	45				BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)		CAGGTCTGGACGGCAGCAACT	0.617																																						uc011bds.1																			0					0						c.(5635-5637)GAC>GAT		dedicator of cytokinesis 3							64.0	78.0	73.0					3																	51418534		2191	4296	6487	SO:0001819	synonymous_variant	1795					cytoplasm	GTP binding|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding	g.chr3:51418534C>T	AB002297	CCDS46835.1	3p21	2008-02-01			ENSG00000088538	ENSG00000088538			2989	protein-coding gene	gene with protein product		603123	"""dedicator of cyto-kinesis 3"""			9205841	Standard	NM_004947		Approved	KIAA0299, MOCA, PBP	uc011bds.2	Q8IZD9	OTTHUMG00000156892	ENST00000266037.9:c.5637C>T	3.37:g.51418534C>T							p.D1879D	NM_004947	NP_004938	Q8IZD9	DOCK3_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00449)|Kidney(197;0.00518)	53	5660	+			1879					O15017	Silent	SNP	ENST00000266037.9	37	c.5637C>T	CCDS46835.1																																																																																				0.617	DOCK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346478.5	NM_004947	
POLQ	10721	broad.mit.edu	37	3	121208947	121208947	+	Missense_Mutation	SNP	A	A	C			TCGA-32-5222-01A-01D-1486-08	TCGA-32-5222-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f48abf4d-f1fb-48bf-97a1-0c38435b6af7	fd30b963-9361-4b8d-a80a-37958b0a40d5	g.chr3:121208947A>C	ENST00000264233.5	-	16	2959	c.2831T>G	c.(2830-2832)tTt>tGt	p.F944C		NM_199420.3	NP_955452.3	O75417	DPOLQ_HUMAN	polymerase (DNA directed), theta	944					ATP catabolic process (GO:0006200)|DNA repair (GO:0006281)	nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|damaged DNA binding (GO:0003684)|DNA-directed DNA polymerase activity (GO:0003887)|single-stranded DNA-dependent ATPase activity (GO:0043142)			NS(2)|breast(7)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(55)|ovary(5)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	120				GBM - Glioblastoma multiforme(114;0.0915)		AGAATCACTAAATATTGTGTT	0.289								DNA polymerases (catalytic subunits)																													Pancreas(152;907 1925 26081 31236 36904)	uc003eee.3																			0				ovary(4)|breast(3)|lung(2)|upper_aerodigestive_tract(1)|skin(1)	11						c.(2830-2832)TTT>TGT	DNA_polymerases_(catalytic_subunits)	DNA polymerase theta							43.0	42.0	43.0					3																	121208947		2202	4298	6500	SO:0001583	missense	10721				DNA repair|DNA replication	nucleoplasm	ATP binding|ATP-dependent helicase activity|damaged DNA binding|DNA-directed DNA polymerase activity|single-stranded DNA-dependent ATPase activity	g.chr3:121208947A>C	AF052573	CCDS33833.1	3q13.3	2012-05-18			ENSG00000051341	ENSG00000051341	2.7.7.7	"""DNA polymerases"""	9186	protein-coding gene	gene with protein product		604419				10395804	Standard	NM_199420		Approved	POLH	uc003eee.4	O75417	OTTHUMG00000159396	ENST00000264233.5:c.2831T>G	3.37:g.121208947A>C	ENSP00000264233:p.Phe944Cys					POLQ_uc003eed.2_Missense_Mutation_p.F116C	p.F944C	NM_199420	NP_955452	O75417	DPOLQ_HUMAN		GBM - Glioblastoma multiforme(114;0.0915)	16	2960	-			944					O95160|Q6VMB5	Missense_Mutation	SNP	ENST00000264233.5	37	c.2831T>G	CCDS33833.1	.	.	.	.	.	.	.	.	.	.	A	15.37	2.812514	0.50527	.	.	ENSG00000051341	ENST00000543272;ENST00000264233;ENST00000393672	T	0.50277	0.75	5.62	0.593	0.17478	.	0.869211	0.10201	N	0.703397	T	0.46347	0.1388	L	0.29908	0.895	0.09310	N	1	P;D	0.67145	0.878;0.996	B;P	0.56216	0.264;0.794	T	0.38112	-0.9676	10	0.38643	T	0.18	.	9.0866	0.36586	0.7218:0.0:0.2782:0.0	.	944;116	O75417;O75417-2	DPOLQ_HUMAN;.	C	567;944;1080	ENSP00000264233:F944C	ENSP00000264233:F944C	F	-	2	0	POLQ	122691637	0.001000	0.12720	0.000000	0.03702	0.576000	0.36127	1.213000	0.32407	0.384000	0.24942	0.455000	0.32223	TTT		0.289	POLQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355097.1	NM_199420	
COL6A5	256076	broad.mit.edu	37	3	130174391	130174391	+	Missense_Mutation	SNP	C	C	T	rs368040060	byFrequency	TCGA-32-5222-01A-01D-1486-08	TCGA-32-5222-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f48abf4d-f1fb-48bf-97a1-0c38435b6af7	fd30b963-9361-4b8d-a80a-37958b0a40d5	g.chr3:130174391C>T	ENST00000432398.2	+	37	7165	c.6671C>T	c.(6670-6672)aCg>aTg	p.T2224M	COL6A5_ENST00000265379.6_Missense_Mutation_p.T2224M	NM_153264.5	NP_694996.5	A8TX70	CO6A5_HUMAN	collagen, type VI, alpha 5	2224	Nonhelical region.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				endometrium(6)|kidney(4)|large_intestine(8)|lung(19)|pancreas(2)|prostate(3)|stomach(1)|urinary_tract(1)	44						TTTGTAAAGACGGAAGACAAT	0.353													T|||	2	0.000399361	0.0008	0.0	5008	,	,		15726	0.0		0.0	False		,,,				2504	0.001					uc010htj.1																			0					0						c.(6670-6672)ACG>ATG		collagen, type XXIX, alpha 1		T	MET/THR	1,3613		0,1,1806	61.0	60.0	60.0		6671	3.2	0.0	3		60	0,8140		0,0,4070	no	missense	COL6A5	NM_153264.5	81	0,1,5876	TT,TC,CC		0.0,0.0277,0.0085	benign	2224/2527	130174391	1,11753	1807	4070	5877	SO:0001583	missense	256076				axon guidance|cell adhesion	collagen		g.chr3:130174391C>T	AK093199		3q21.3	2013-01-16	2010-05-24	2010-05-24	ENSG00000172752	ENSG00000172752		"""Collagens"""	26674	protein-coding gene	gene with protein product	"""von Willebrand factor A domain containing 4"""	611916	"""collagen, type XXIX, alpha 1"""	COL29A1		17850181	Standard	NM_153264		Approved	FLJ35880, VWA4	uc010htk.2	A8TX70	OTTHUMG00000159712	ENST00000432398.2:c.6671C>T	3.37:g.130174391C>T	ENSP00000390895:p.Thr2224Met					COL29A1_uc010hti.1_RNA|COL29A1_uc010htk.1_Missense_Mutation_p.T263M	p.T2224M	NM_153264	NP_694996	A8TX70	CO6A5_HUMAN			37	7165	+			2224			Nonhelical region.		A9J6L2|A9J6L4|A9J6L6|A9J6L7|A9J6M0|A9J6M1|A9J6M2|B5MEA7|Q6ZW26|Q8NA36	Missense_Mutation	SNP	ENST00000432398.2	37	c.6671C>T		.	.	.	.	.	.	.	.	.	.	T	3.893	-0.023581	0.07634	2.77E-4	0.0	ENSG00000172752	ENST00000432398;ENST00000265379;ENST00000373157;ENST00000512482	D;D;T;T	0.88741	-2.33;-2.42;-0.93;-0.81	4.38	3.19	0.36642	.	1.373030	0.05646	N	0.584364	T	0.72938	0.3523	N	0.02011	-0.69	0.09310	N	1	B;B	0.06786	0.001;0.0	B;B	0.01281	0.0;0.0	T	0.61491	-0.7052	10	0.33141	T	0.24	.	4.6547	0.12611	0.0:0.102:0.1934:0.7046	.	2224;2224	A8TX70;A8TX70-2	CO6A5_HUMAN;.	M	2224;2224;167;59	ENSP00000390895:T2224M;ENSP00000265379:T2224M;ENSP00000362250:T167M;ENSP00000424968:T59M	ENSP00000265379:T2224M	T	+	2	0	COL6A5	131657081	0.004000	0.15560	0.007000	0.13788	0.002000	0.02628	0.609000	0.24238	0.287000	0.22375	-0.269000	0.10298	ACG		0.353	COL6A5-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_153264	
ARMC8	25852	broad.mit.edu	37	3	137964018	137964018	+	Missense_Mutation	SNP	G	G	A			TCGA-32-5222-01A-01D-1486-08	TCGA-32-5222-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f48abf4d-f1fb-48bf-97a1-0c38435b6af7	fd30b963-9361-4b8d-a80a-37958b0a40d5	g.chr3:137964018G>A	ENST00000469044.1	+	12	1398	c.1127G>A	c.(1126-1128)cGg>cAg	p.R376Q	ARMC8_ENST00000489213.1_Missense_Mutation_p.R334Q|ARMC8_ENST00000481646.1_Missense_Mutation_p.R362Q|ARMC8_ENST00000393058.3_Missense_Mutation_p.R366Q|ARMC8_ENST00000358441.2_Missense_Mutation_p.R362Q|ARMC8_ENST00000470821.1_Missense_Mutation_p.R376Q|ARMC8_ENST00000471453.1_Missense_Mutation_p.R362Q|ARMC8_ENST00000461822.1_Missense_Mutation_p.R309Q|ARMC8_ENST00000485396.1_Missense_Mutation_p.R303Q|ARMC8_ENST00000491704.1_Missense_Mutation_p.R334Q|ARMC8_ENST00000538260.1_Missense_Mutation_p.R345Q	NM_001267041.1|NM_001267042.1	NP_001253970.1|NP_001253971.1	Q8IUR7	ARMC8_HUMAN	armadillo repeat containing 8	376										endometrium(2)|kidney(1)|large_intestine(7)|lung(5)|upper_aerodigestive_tract(1)	16						GAAGACATCCGGAAGAAGGTG	0.522																																						uc003esa.1																			0					0						c.(1084-1086)CGG>CAG		armadillo repeat containing 8 isoform 2							66.0	63.0	64.0					3																	137964018		2203	4300	6503	SO:0001583	missense	25852						binding	g.chr3:137964018G>A		CCDS3098.1, CCDS54646.1, CCDS58853.1, CCDS58854.1, CCDS75020.1	3q22	2013-02-14			ENSG00000114098	ENSG00000114098		"""Armadillo repeat containing"""	24999	protein-coding gene	gene with protein product	"""GID complex subunit 5, VID28 homolog (S. cerevisiae)"""					11042152	Standard	NM_014154		Approved	HSPC056, DKFZP434A043, GID5, VID28	uc003esa.2	Q8IUR7	OTTHUMG00000159821	ENST00000469044.1:c.1127G>A	3.37:g.137964018G>A	ENSP00000419413:p.Arg376Gln					ARMC8_uc003erw.2_Missense_Mutation_p.R362Q|ARMC8_uc003erx.2_Missense_Mutation_p.R362Q|ARMC8_uc003ery.2_Missense_Mutation_p.R334Q|ARMC8_uc003erz.2_Missense_Mutation_p.R334Q|ARMC8_uc011bmf.1_Missense_Mutation_p.R345Q|ARMC8_uc011bmg.1_Missense_Mutation_p.R309Q|ARMC8_uc011bmh.1_Missense_Mutation_p.R303Q|ARMC8_uc003esb.1_Missense_Mutation_p.R334Q|ARMC8_uc003esc.1_Missense_Mutation_p.R134Q	p.R362Q	NM_015396	NP_056211	Q8IUR7	ARMC8_HUMAN			13	1452	+			376			ARM 8.		A8K0L2|B7Z441|B7Z453|D3DNE6|F5GWK4|Q6PIL2|Q96D19|Q96HZ5|Q9NV02|Q9NV94|Q9Y4R9	Missense_Mutation	SNP	ENST00000469044.1	37	c.1085G>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	28.2|28.2	4.900217|4.900217	0.92035|0.92035	.|.	.|.	ENSG00000114098|ENSG00000114098	ENST00000469860|ENST00000481646;ENST00000469044;ENST00000491704;ENST00000358441;ENST00000489213;ENST00000461822;ENST00000485396;ENST00000471453;ENST00000470821;ENST00000538260;ENST00000393058;ENST00000463485;ENST00000539459	.|T;T;T;T;T;T;T;T;T;T;T;T	.|0.69561	.|-0.12;-0.12;-0.12;0.18;-0.41;1.31;1.31;0.18;0.14;1.31;-0.12;1.53	5.42|5.42	5.42|5.42	0.78866|0.78866	.|Armadillo-like helical (1);Armadillo-type fold (1);	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.82291|0.82291	0.5005|0.5005	M|M	0.78223|0.78223	2.4|2.4	0.80722|0.80722	D|D	1|1	.|D;D;D;D;D;D;D	.|0.89917	.|1.0;0.999;1.0;0.994;1.0;0.998;1.0	.|D;D;D;P;D;D;D	.|0.97110	.|0.998;0.984;1.0;0.885;0.999;0.979;0.992	D|D	0.84484|0.84484	0.0607|0.0607	5|10	.|0.87932	.|D	.|0	-2.5274|-2.5274	16.7031|16.7031	0.85364|0.85364	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|303;309;345;376;362;376;362	.|B7Z637;B7Z441;F5GWK4;Q8IUR7;Q8IUR7-2;G5E9V6;Q8IUR7-6	.|.;.;.;ARMC8_HUMAN;.;.;.	R|Q	90|362;376;334;362;334;309;303;362;376;345;366;270;233	.|ENSP00000420333:R362Q;ENSP00000419413:R376Q;ENSP00000417304:R334Q;ENSP00000351221:R362Q;ENSP00000418412:R334Q;ENSP00000420706:R309Q;ENSP00000417049:R303Q;ENSP00000420440:R362Q;ENSP00000418405:R376Q;ENSP00000441592:R345Q;ENSP00000376778:R366Q;ENSP00000417403:R270Q	.|ENSP00000351221:R362Q	G|R	+|+	1|2	0|0	ARMC8|ARMC8	139446708|139446708	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	9.813000|9.813000	0.99286|0.99286	2.522000|2.522000	0.85027|0.85027	0.650000|0.650000	0.86243|0.86243	GGA|CGG		0.522	ARMC8-003	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000357560.1	NM_015396	
SERPINI1	5274	broad.mit.edu	37	3	167508226	167508226	+	Missense_Mutation	SNP	T	T	C			TCGA-32-5222-01A-01D-1486-08	TCGA-32-5222-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f48abf4d-f1fb-48bf-97a1-0c38435b6af7	fd30b963-9361-4b8d-a80a-37958b0a40d5	g.chr3:167508226T>C	ENST00000295777.5	+	3	748	c.317T>C	c.(316-318)aTg>aCg	p.M106T	SERPINI1_ENST00000446050.2_Missense_Mutation_p.M106T	NM_005025.4	NP_005016.1	Q99574	NEUS_HUMAN	serpin peptidase inhibitor, clade I (neuroserpin), member 1	106					cell death (GO:0008219)|central nervous system development (GO:0007417)|negative regulation of endopeptidase activity (GO:0010951)|peripheral nervous system development (GO:0007422)|regulation of cell adhesion (GO:0030155)|regulation of proteolysis (GO:0030162)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	serine-type endopeptidase inhibitor activity (GO:0004867)			NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(7)|skin(2)	20						CAATATGTGATGAAAATTGCC	0.318																																						uc003ffa.3																			0				skin(1)	1						c.(316-318)ATG>ACG		neuroserpin precursor							92.0	95.0	94.0					3																	167508226		2203	4300	6503	SO:0001583	missense	5274				central nervous system development|peripheral nervous system development|regulation of proteolysis	extracellular region	serine-type endopeptidase inhibitor activity	g.chr3:167508226T>C	Z81326	CCDS3203.1	3q26.1	2014-02-18	2005-08-18		ENSG00000163536	ENSG00000163536		"""Serine (or cysteine) peptidase inhibitors"""	8943	protein-coding gene	gene with protein product		602445	"""serine (or cysteine) proteinase inhibitor, clade I (neuroserpin), member 1"""	PI12		24172014	Standard	NM_005025		Approved	neuroserpin	uc003ffa.4	Q99574	OTTHUMG00000158450	ENST00000295777.5:c.317T>C	3.37:g.167508226T>C	ENSP00000295777:p.Met106Thr					SERPINI1_uc003ffb.3_Missense_Mutation_p.M106T	p.M106T	NM_001122752	NP_001116224	Q99574	NEUS_HUMAN			3	515	+			106					A8K217|D3DNP1|Q6AHZ4	Missense_Mutation	SNP	ENST00000295777.5	37	c.317T>C	CCDS3203.1	.	.	.	.	.	.	.	.	.	.	T	19.74	3.883364	0.72410	.	.	ENSG00000163536	ENST00000472941;ENST00000446050;ENST00000295777;ENST00000472747	D;D;D;D	0.84070	-1.8;-1.8;-1.8;-1.8	5.63	5.63	0.86233	Serpin domain (3);	0.251867	0.47852	D	0.000204	D	0.83672	0.5305	L	0.50333	1.59	0.80722	D	1	B	0.30914	0.3	B	0.40477	0.33	D	0.84007	0.0346	10	0.87932	D	0	.	15.8574	0.78989	0.0:0.0:0.0:1.0	.	106	Q99574	NEUS_HUMAN	T	106	ENSP00000420133:M106T;ENSP00000397373:M106T;ENSP00000295777:M106T;ENSP00000420561:M106T	ENSP00000295777:M106T	M	+	2	0	SERPINI1	168990920	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.698000	0.84413	2.145000	0.66743	0.528000	0.53228	ATG		0.318	SERPINI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351056.1		
MUC4	4585	broad.mit.edu	37	3	195515449	195515449	+	Missense_Mutation	SNP	A	A	T	rs200672669	byFrequency	TCGA-32-5222-01A-01D-1486-08	TCGA-32-5222-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f48abf4d-f1fb-48bf-97a1-0c38435b6af7	fd30b963-9361-4b8d-a80a-37958b0a40d5	g.chr3:195515449A>T	ENST00000463781.3	-	2	3461	c.3002T>A	c.(3001-3003)gTa>gAa	p.V1001E	MUC4_ENST00000349607.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.V1001E|MUC4_ENST00000346145.4_Intron	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	425	Ser-rich.				cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)	p.V1001A(1)|p.V1001E(1)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		ACCTGTGGATACTGAGGAAGC	0.587																																						uc011bto.1																			2	Substitution - Missense(2)		prostate(1)|endometrium(1)		0						c.(3001-3003)GTA>GAA		mucin 4 isoform a							45.0	36.0	39.0					3																	195515449		2193	4257	6450	SO:0001583	missense	4585				cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity	g.chr3:195515449A>T	AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000463781.3:c.3002T>A	3.37:g.195515449A>T	ENSP00000417498:p.Val1001Glu					MUC4_uc003fvo.2_Intron|MUC4_uc003fvp.2_Intron|MUC4_uc010hzu.1_Intron	p.V1001E	NM_018406	NP_060876	Q99102	MUC4_HUMAN	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)	2	3462	-	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Missense_Mutation	SNP	ENST00000463781.3	37	c.3002T>A	CCDS54700.1	.	.	.	.	.	.	.	.	.	.	A	7.806	0.714656	0.15306	.	.	ENSG00000145113	ENST00000463781;ENST00000475231	T;T	0.37752	1.19;1.18	1.24	-2.48	0.06423	.	.	.	.	.	T	0.13543	0.0328	N	0.08118	0	0.09310	N	1	B	0.12630	0.006	B	0.01281	0.0	T	0.24261	-1.0165	8	.	.	.	.	2.7997	0.05411	0.2821:0.0:0.4902:0.2277	.	1001	E7ESK3	.	E	1001	ENSP00000417498:V1001E;ENSP00000420243:V1001E	.	V	-	2	0	MUC4	196999844	.	.	0.000000	0.03702	0.127000	0.20565	.	.	-0.712000	0.04988	0.055000	0.15244	GTA		0.587	MUC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324081.6	NM_018406	
ZNF330	27309	broad.mit.edu	37	4	142155058	142155058	+	Missense_Mutation	SNP	C	C	T			TCGA-32-5222-01A-01D-1486-08	TCGA-32-5222-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f48abf4d-f1fb-48bf-97a1-0c38435b6af7	fd30b963-9361-4b8d-a80a-37958b0a40d5	g.chr4:142155058C>T	ENST00000262990.4	+	10	1106	c.878C>T	c.(877-879)aCt>aTt	p.T293I	ZNF330_ENST00000421169.2_Missense_Mutation_p.T233I	NM_014487.4	NP_055302.1	Q9Y3S2	ZN330_HUMAN	zinc finger protein 330	293						chromosome, centromeric region (GO:0000775)|midbody (GO:0030496)|nucleolus (GO:0005730)	metal ion binding (GO:0046872)|zinc ion binding (GO:0008270)			kidney(1)|large_intestine(4)|lung(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	14	all_hematologic(180;0.162)					GATTCAGATACTGAGTCATCA	0.433																																						uc003iiq.3																			0					0						c.(877-879)ACT>ATT		zinc finger protein 330							137.0	141.0	140.0					4																	142155058		2203	4300	6503	SO:0001583	missense	27309					chromosome, centromeric region|midbody|nucleolus	protein binding|zinc ion binding	g.chr4:142155058C>T	AJ006591	CCDS3754.1	4q31.21	2008-05-15			ENSG00000109445	ENSG00000109445		"""Zinc fingers, C2H2-type"""	15462	protein-coding gene	gene with protein product		609550				11528117, 10593942	Standard	NM_001292002		Approved	NOA36, HSA6591	uc003iiq.4	Q9Y3S2	OTTHUMG00000133413	ENST00000262990.4:c.878C>T	4.37:g.142155058C>T	ENSP00000262990:p.Thr293Ile					ZNF330_uc011chl.1_Missense_Mutation_p.T233I	p.T293I	NM_014487	NP_055302	Q9Y3S2	ZN330_HUMAN			10	1098	+	all_hematologic(180;0.162)		293					B2RDA3	Missense_Mutation	SNP	ENST00000262990.4	37	c.878C>T	CCDS3754.1	.	.	.	.	.	.	.	.	.	.	C	6.752	0.507644	0.12883	.	.	ENSG00000109445	ENST00000262990;ENST00000421169	T;T	0.30182	1.54;1.54	5.87	3.25	0.37280	.	0.591204	0.19391	N	0.115420	T	0.21468	0.0517	N	0.22421	0.69	0.09310	N	1	B;B	0.09022	0.001;0.002	B;B	0.08055	0.001;0.003	T	0.18808	-1.0325	10	0.62326	D	0.03	-46.1342	11.3669	0.49677	0.0:0.8047:0.0:0.1953	.	233;293	E9PDK6;Q9Y3S2	.;ZN330_HUMAN	I	293;233	ENSP00000262990:T293I;ENSP00000397397:T233I	ENSP00000262990:T293I	T	+	2	0	ZNF330	142374508	0.006000	0.16342	0.484000	0.27391	0.458000	0.32498	1.740000	0.38228	0.496000	0.27904	-0.140000	0.14226	ACT		0.433	ZNF330-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257271.2	NM_014487	
SPOCK3	50859	broad.mit.edu	37	4	167656162	167656162	+	Silent	SNP	A	A	G			TCGA-32-5222-01A-01D-1486-08	TCGA-32-5222-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f48abf4d-f1fb-48bf-97a1-0c38435b6af7	fd30b963-9361-4b8d-a80a-37958b0a40d5	g.chr4:167656162A>G	ENST00000357154.3	-	12	1358	c.1221T>C	c.(1219-1221)gaT>gaC	p.D407D	SPOCK3_ENST00000357545.4_Silent_p.D404D|SPOCK3_ENST00000506886.1_Silent_p.D407D|SPOCK3_ENST00000541637.1_Silent_p.D309D|SPOCK3_ENST00000535728.1_Silent_p.D275D|SPOCK3_ENST00000511269.1_Silent_p.D404D|SPOCK3_ENST00000512681.1_Silent_p.D309D|SPOCK3_ENST00000541354.1_Silent_p.D287D|SPOCK3_ENST00000511531.1_Silent_p.D407D|SPOCK3_ENST00000502330.1_Silent_p.D407D|SPOCK3_ENST00000534949.1_Silent_p.D311D|SPOCK3_ENST00000504953.1_Silent_p.D404D|SPOCK3_ENST00000421836.2_Silent_p.D356D|SPOCK3_ENST00000507137.1_5'UTR|SPOCK3_ENST00000510741.1_Silent_p.D364D	NM_016950.2	NP_058646.2	Q9BQ16	TICN3_HUMAN	sparc/osteonectin, cwcv and kazal-like domains proteoglycan (testican) 3	407	Asp-rich.				negative regulation of endopeptidase activity (GO:0010951)|peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)|signal transduction (GO:0007165)	extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|glycosaminoglycan binding (GO:0005539)|metalloendopeptidase inhibitor activity (GO:0008191)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	38	all_hematologic(180;0.221)	Prostate(90;0.0181)|Renal(120;0.0184)|Melanoma(52;0.0198)		GBM - Glioblastoma multiforme(119;0.02)		cattcataatatcgtcttcat	0.358																																						uc003iri.1																			0				large_intestine(1)|ovary(1)|central_nervous_system(1)	3						c.(1219-1221)GAT>GAC		testican 3 isoform 2							195.0	182.0	186.0					4																	167656162		2203	4299	6502	SO:0001819	synonymous_variant	50859				signal transduction	proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase inhibitor activity	g.chr4:167656162A>G	AJ001454	CCDS34095.1, CCDS54817.1, CCDS56343.1, CCDS56344.1, CCDS56346.1, CCDS56347.1, CCDS58931.1, CCDS75207.1	4q32.3	2011-10-10			ENSG00000196104	ENSG00000196104			13565	protein-coding gene	gene with protein product		607989				11751414	Standard	NM_001204352		Approved	testican-3	uc003iri.1	Q9BQ16	OTTHUMG00000161190	ENST00000357154.3:c.1221T>C	4.37:g.167656162A>G						SPOCK3_uc011cjp.1_Silent_p.D364D|SPOCK3_uc011cjq.1_Silent_p.D416D|SPOCK3_uc011cjr.1_Silent_p.D287D|SPOCK3_uc003irj.1_Silent_p.D404D|SPOCK3_uc011cjs.1_Silent_p.D356D|SPOCK3_uc011cjt.1_Silent_p.D315D|SPOCK3_uc011cju.1_Silent_p.D300D|SPOCK3_uc011cjv.1_Silent_p.D309D	p.D407D	NM_016950	NP_058646	Q9BQ16	TICN3_HUMAN		GBM - Glioblastoma multiforme(119;0.02)	12	1362	-	all_hematologic(180;0.221)	Prostate(90;0.0181)|Renal(120;0.0184)|Melanoma(52;0.0198)	407			Asp-rich.		B2R7M7|B3KR67|B4DGK5|B4DHB4|B4DHV3|B4DI46|B4DJY3|E7EP61|F5H099|O75705|Q6UW53|Q96Q26	Silent	SNP	ENST00000357154.3	37	c.1221T>C	CCDS54817.1																																																																																				0.358	SPOCK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000364091.1		
DNAH5	1767	broad.mit.edu	37	5	13766102	13766102	+	Missense_Mutation	SNP	A	A	T	rs373406041		TCGA-32-5222-01A-01D-1486-08	TCGA-32-5222-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f48abf4d-f1fb-48bf-97a1-0c38435b6af7	fd30b963-9361-4b8d-a80a-37958b0a40d5	g.chr5:13766102A>T	ENST00000265104.4	-	59	10188	c.10084T>A	c.(10084-10086)Ttt>Att	p.F3362I	DNAH5_ENST00000504001.3_Intron	NM_001369.2	NP_001360.1	Q8TE73	DYH5_HUMAN	dynein, axonemal, heavy chain 5	3362	Stalk. {ECO:0000250}.				cilium movement (GO:0003341)|lateral ventricle development (GO:0021670)|left/right axis specification (GO:0070986)	axonemal dynein complex (GO:0005858)|axoneme (GO:0005930)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(6)|breast(14)|central_nervous_system(4)|cervix(2)|endometrium(23)|haematopoietic_and_lymphoid_tissue(8)|kidney(11)|large_intestine(85)|liver(1)|lung(129)|ovary(16)|pancreas(2)|prostate(5)|skin(48)|stomach(5)|upper_aerodigestive_tract(11)|urinary_tract(8)	378	Lung NSC(4;0.00476)					TTCTGTAAAAAGTTCCCTGCA	0.418									Kartagener syndrome																													uc003jfd.2																			0				ovary(14)|skin(13)|upper_aerodigestive_tract(1)|central_nervous_system(1)|breast(1)|pancreas(1)	31						c.(10084-10086)TTT>ATT		dynein, axonemal, heavy chain 5		A	ILE/PHE	1,4405	2.1+/-5.4	0,1,2202	117.0	119.0	118.0		10084	5.6	1.0	5		118	0,8600		0,0,4300	no	missense	DNAH5	NM_001369.2	21	0,1,6502	TT,TA,AA		0.0,0.0227,0.0077	probably-damaging	3362/4625	13766102	1,13005	2203	4300	6503	SO:0001583	missense	1767	Kartagener_syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	microtubule-based movement	cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr5:13766102A>T	AJ132090	CCDS3882.1	5p15.2	2008-07-18	2006-09-04		ENSG00000039139	ENSG00000039139		"""Axonemal dyneins"""	2950	protein-coding gene	gene with protein product	"""dynein heavy chain 5"""	603335	"""dynein, axonemal, heavy polypeptide 5"""			9256245, 11788826	Standard	NM_001369		Approved	Dnahc5, HL1, PCD, CILD3, KTGNR	uc003jfd.2	Q8TE73	OTTHUMG00000090533	ENST00000265104.4:c.10084T>A	5.37:g.13766102A>T	ENSP00000265104:p.Phe3362Ile					DNAH5_uc003jfc.2_5'UTR	p.F3362I	NM_001369	NP_001360	Q8TE73	DYH5_HUMAN			59	10126	-	Lung NSC(4;0.00476)		3362			Stalk (By similarity).		Q92860|Q96L74|Q9H5S7|Q9HCG9	Missense_Mutation	SNP	ENST00000265104.4	37	c.10084T>A	CCDS3882.1	.	.	.	.	.	.	.	.	.	.	A	28.4	4.915151	0.92178	2.27E-4	0.0	ENSG00000039139	ENST00000265104	T	0.61510	0.1	5.63	5.63	0.86233	Dynein heavy chain, coiled coil stalk (1);	0.101562	0.64402	D	0.000002	D	0.84656	0.5520	H	0.98155	4.16	0.80722	D	1	P	0.47910	0.902	D	0.64776	0.929	D	0.90095	0.4180	10	0.87932	D	0	.	15.8854	0.79244	1.0:0.0:0.0:0.0	.	3362	Q8TE73	DYH5_HUMAN	I	3362	ENSP00000265104:F3362I	ENSP00000265104:F3362I	F	-	1	0	DNAH5	13819102	1.000000	0.71417	1.000000	0.80357	0.932000	0.56968	9.093000	0.94163	2.150000	0.67090	0.456000	0.33151	TTT		0.418	DNAH5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207057.2	NM_001369	
PCDHA13	56136	broad.mit.edu	37	5	140263516	140263516	+	Missense_Mutation	SNP	G	G	A			TCGA-32-5222-01A-01D-1486-08	TCGA-32-5222-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f48abf4d-f1fb-48bf-97a1-0c38435b6af7	fd30b963-9361-4b8d-a80a-37958b0a40d5	g.chr5:140263516G>A	ENST00000289272.2	+	1	1663	c.1663G>A	c.(1663-1665)Gtg>Atg	p.V555M	PCDHA6_ENST00000527624.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA13_ENST00000409494.1_Missense_Mutation_p.V555M|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA3_ENST00000522353.2_Intron	NM_018904.2|NM_031865.1	NP_061727.1|NP_114071.1	Q9Y5I0	PCDAD_HUMAN	protocadherin alpha 13	555	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|biliary_tract(2)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(2)|large_intestine(18)|liver(3)|lung(23)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCAGGTGTTCGTGCTGGACGA	0.697																																					Melanoma(147;1739 1852 5500 27947 37288)	uc003lif.2																			0				ovary(3)|skin(2)|central_nervous_system(1)	6						c.(1663-1665)GTG>ATG		protocadherin alpha 13 isoform 1 precursor							67.0	73.0	71.0					5																	140263516		2203	4297	6500	SO:0001583	missense	56136				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140263516G>A	AF152478	CCDS4240.1	5q31	2010-11-26			ENSG00000239389	ENSG00000239389		"""Cadherins / Protocadherins : Clustered"""	8667	other	complex locus constituent	"""KIAA0345-like 1"", ""ortholog of mouse CNR5"""	606319		CNRS5		10380929, 10662547	Standard	NM_018904		Approved	CNR5, CRNR5, CNRN5, PCDH-ALPHA13		Q9Y5I0	OTTHUMG00000129614	ENST00000289272.2:c.1663G>A	5.37:g.140263516G>A	ENSP00000289272:p.Val555Met					PCDHA1_uc003lha.2_Intron|PCDHA1_uc003lhb.2_Intron|PCDHA2_uc003lhd.2_Intron|PCDHA3_uc003lhf.2_Intron|PCDHA4_uc003lhi.2_Intron|PCDHA4_uc003lhh.1_Intron|PCDHA5_uc003lhk.1_Intron|PCDHA5_uc003lhl.2_Intron|PCDHA6_uc003lhn.2_Intron|PCDHA6_uc003lho.2_Intron|PCDHA7_uc003lhq.2_Intron|PCDHA8_uc003lhs.2_Intron|PCDHA9_uc003lhu.2_Intron|PCDHA10_uc003lhw.2_Intron|PCDHA10_uc003lhx.2_Intron|PCDHA11_uc003lia.2_Intron|PCDHA12_uc003lic.2_Intron|PCDHA13_uc003lie.1_Missense_Mutation_p.V555M|PCDHA13_uc003lid.2_Missense_Mutation_p.V555M	p.V555M	NM_018904	NP_061727	Q9Y5I0	PCDAD_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1663	+			555			Cadherin 5.|Extracellular (Potential).		O75277	Missense_Mutation	SNP	ENST00000289272.2	37	c.1663G>A	CCDS4240.1	.	.	.	.	.	.	.	.	.	.	G	15.74	2.922816	0.52653	.	.	ENSG00000239389	ENST00000409494;ENST00000289272	T;T	0.68181	-0.31;-0.31	4.08	4.08	0.47627	Cadherin (5);Cadherin conserved site (1);Cadherin-like (1);	.	.	.	.	D	0.83271	0.5218	M	0.90650	3.135	0.24944	N	0.991835	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;0.999;1.0	T	0.73550	-0.3947	9	0.87932	D	0	.	9.8562	0.41088	0.0957:0.0:0.9043:0.0	.	555;555;555	Q9Y5I0;C9JA99;Q9Y5I0-2	PCDAD_HUMAN;.;.	M	555	ENSP00000386821:V555M;ENSP00000289272:V555M	ENSP00000289272:V555M	V	+	1	0	PCDHA13	140243700	0.995000	0.38212	1.000000	0.80357	0.906000	0.53458	2.470000	0.45119	2.073000	0.62155	0.561000	0.74099	GTG		0.697	PCDHA13-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335000.1	NM_018904	
PCDHGA8	9708	broad.mit.edu	37	5	140774370	140774370	+	Missense_Mutation	SNP	G	G	A	rs143444747	byFrequency	TCGA-32-5222-01A-01D-1486-08	TCGA-32-5222-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f48abf4d-f1fb-48bf-97a1-0c38435b6af7	fd30b963-9361-4b8d-a80a-37958b0a40d5	g.chr5:140774370G>A	ENST00000398604.2	+	1	1990	c.1990G>A	c.(1990-1992)Gtg>Atg	p.V664M	PCDHGB3_ENST00000576222.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA3_ENST00000253812.6_Intron	NM_032088.1	NP_114477.1	Q9Y5G5	PCDG8_HUMAN	protocadherin gamma subfamily A, 8	664	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(6)|kidney(6)|large_intestine(6)|lung(30)|ovary(1)|stomach(1)|upper_aerodigestive_tract(1)	51			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CACCGTAGCCGTGGCTGACAG	0.627													.|||	2	0.000399361	0.0015	0.0	5008	,	,		18790	0.0		0.0	False		,,,				2504	0.0					uc003lkd.1																			0					0						c.(1990-1992)GTG>ATG		protocadherin gamma subfamily A, 8 isoform 1							41.0	48.0	46.0					5																	140774370		2202	4300	6502	SO:0001583	missense	9708				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140774370G>A	AF152515	CCDS47291.1, CCDS75338.1	5q31	2010-01-26			ENSG00000253767	ENSG00000253767		"""Cadherins / Protocadherins : Clustered"""	8706	other	protocadherin		606295				10380929	Standard	NM_014004		Approved	KIAA0327, PCDH-GAMMA-A8		Q9Y5G5	OTTHUMG00000164053	ENST00000398604.2:c.1990G>A	5.37:g.140774370G>A	ENSP00000381605:p.Val664Met					PCDHGA1_uc003lji.1_Intron|PCDHGA2_uc003ljk.1_Intron|PCDHGA3_uc003ljm.1_Intron|PCDHGA3_uc010jfx.1_Intron|PCDHGB1_uc003ljo.1_Intron|PCDHGA4_uc003ljq.1_Intron|PCDHGB2_uc003ljs.1_Intron|PCDHGA5_uc003lju.1_Intron|PCDHGB3_uc003ljw.1_Intron|PCDHGA6_uc003ljy.1_Intron|PCDHGA7_uc003lka.1_Intron|PCDHGB4_uc003lkc.1_Intron|PCDHGA8_uc003lkb.3_Missense_Mutation_p.V664M	p.V664M	NM_032088	NP_114477	Q9Y5G5	PCDG8_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2888	+			664			Extracellular (Potential).|Cadherin 6.		A7MCZ4|O15039	Missense_Mutation	SNP	ENST00000398604.2	37	c.1990G>A	CCDS47291.1	2	9.157509157509158E-4	2	0.0040650406504065045	0	0.0	0	0.0	0	0.0	.	14.77	2.633982	0.47049	.	.	ENSG00000253767	ENST00000398604	T	0.68181	-0.31	4.99	2.22	0.28083	Cadherin (4);Cadherin-like (1);	0.000000	0.28624	U	0.014693	T	0.78323	0.4265	H	0.94582	3.555	0.26602	N	0.973009	D;D	0.55605	0.972;0.967	P;P	0.53912	0.737;0.501	T	0.71467	-0.4584	10	0.72032	D	0.01	.	4.0234	0.09677	0.1453:0.1273:0.5959:0.1314	.	664;664	Q9Y5G5;Q9Y5G5-2	PCDG8_HUMAN;.	M	664	ENSP00000381605:V664M	ENSP00000381605:V664M	V	+	1	0	PCDHGA8	140754554	0.000000	0.05858	0.202000	0.23494	0.838000	0.47535	-0.464000	0.06688	0.167000	0.19631	0.650000	0.86243	GTG		0.627	PCDHGA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376972.1	NM_032088	
OR10C1	442194	broad.mit.edu	37	6	29408448	29408448	+	Missense_Mutation	SNP	G	G	T	rs74711365		TCGA-32-5222-01A-01D-1486-08	TCGA-32-5222-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f48abf4d-f1fb-48bf-97a1-0c38435b6af7	fd30b963-9361-4b8d-a80a-37958b0a40d5	g.chr6:29408448G>T	ENST00000444197.2	+	1	1366	c.656G>T	c.(655-657)cGt>cTt	p.R219L	OR11A1_ENST00000377149.1_Intron	NM_013941.3	NP_039229.3	Q96KK4	O10C1_HUMAN	olfactory receptor, family 10, subfamily C, member 1 (gene/pseudogene)	219						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(2)|kidney(1)|large_intestine(3)|liver(2)|lung(14)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						TCCTACGGGCGTATCCTCGTT	0.582																																						uc011dlp.1																			0					0						c.(655-657)CGT>CTT		olfactory receptor, family 10, subfamily C,							201.0	215.0	210.0					6																	29408448		1511	2709	4220	SO:0001583	missense	442194				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr6:29408448G>T		CCDS34364.1	6p22.2-p21.31	2013-10-10	2013-10-10		ENSG00000206474	ENSG00000206474		"""GPCR / Class A : Olfactory receptors"""	8165	protein-coding gene	gene with protein product			"""olfactory receptor, family 10, subfamily C, member 2"", ""olfactory receptor, family 10, subfamily C, member 1"""	OR10C2			Standard	NM_013941		Approved	hs6M1-17, OR10C1P	uc011dlp.2	Q96KK4	OTTHUMG00000031207	ENST00000444197.2:c.656G>T	6.37:g.29408448G>T	ENSP00000419119:p.Arg219Leu					OR11A1_uc010jrh.1_Intron	p.R219L	NM_013941	NP_039229	Q96KK4	O10C1_HUMAN			1	656	+			219			Cytoplasmic (Potential).		Q5SUN7|Q96R18	Missense_Mutation	SNP	ENST00000444197.2	37	c.656G>T	CCDS34364.1	.	.	.	.	.	.	.	.	.	.	G	7.854	0.724693	0.15439	.	.	ENSG00000206474	ENST00000444197	T	0.00042	8.84	3.49	-0.39	0.12450	GPCR, rhodopsin-like superfamily (1);	1.341410	0.05509	N	0.559845	T	0.00073	0.0002	L	0.39326	1.205	0.09310	N	1	B	0.32425	0.371	B	0.44085	0.44	T	0.01294	-1.1393	10	0.33940	T	0.23	.	3.7393	0.08523	0.5714:0.0:0.2392:0.1894	.	219	Q96KK4	O10C1_HUMAN	L	219	ENSP00000419119:R219L	ENSP00000419119:R219L	R	+	2	0	OR10C1	29516427	0.000000	0.05858	0.001000	0.08648	0.018000	0.09664	-2.281000	0.01157	-0.067000	0.12976	-0.199000	0.12753	CGT		0.582	OR10C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076415.2		
KIF6	221458	broad.mit.edu	37	6	39513399	39513399	+	Missense_Mutation	SNP	G	G	A	rs201860401		TCGA-32-5222-01A-01D-1486-08	TCGA-32-5222-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f48abf4d-f1fb-48bf-97a1-0c38435b6af7	fd30b963-9361-4b8d-a80a-37958b0a40d5	g.chr6:39513399G>A	ENST00000287152.7	-	11	1341	c.1247C>T	c.(1246-1248)gCg>gTg	p.A416V	KIF6_ENST00000373213.4_Missense_Mutation_p.A255V|KIF6_ENST00000373216.3_Missense_Mutation_p.A416V|KIF6_ENST00000373215.3_Missense_Mutation_p.A416V|KIF6_ENST00000538893.1_Missense_Mutation_p.A416V	NM_145027.4	NP_659464.3	Q6ZMV9	KIF6_HUMAN	kinesin family member 6	416					ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|male germ cell nucleus (GO:0001673)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(16)|large_intestine(8)|lung(15)|ovary(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	52						ACGCATATCCGCGCCAACCTC	0.363													G|||	1	0.000199681	0.0	0.0	5008	,	,		18854	0.0		0.001	False		,,,				2504	0.0					uc003oot.2																			0				breast(2)|central_nervous_system(1)	3						c.(1246-1248)GCG>GTG		kinesin family member 6		G	VAL/ALA	1,4405	2.1+/-5.4	0,1,2202	119.0	115.0	116.0		1247	5.6	0.0	6		116	0,8600		0,0,4300	yes	missense	KIF6	NM_145027.4	64	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign	416/815	39513399	1,13005	2203	4300	6503	SO:0001583	missense	221458				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity|protein binding	g.chr6:39513399G>A	AL832634	CCDS4844.1, CCDS75449.1	6p21.2	2010-03-30			ENSG00000164627	ENSG00000164627		"""Kinesins"""	21202	protein-coding gene	gene with protein product		613919	"""chromosome 6 open reading frame 102"""	C6orf102			Standard	NM_145027		Approved	dJ1043E3.1, MGC33317, dJ137F1.4, dJ188D3.1, DKFZp451I2418	uc003oot.2	Q6ZMV9	OTTHUMG00000014648	ENST00000287152.7:c.1247C>T	6.37:g.39513399G>A	ENSP00000287152:p.Ala416Val					KIF6_uc010jxa.1_Missense_Mutation_p.A207V|KIF6_uc011dua.1_Missense_Mutation_p.A416V|KIF6_uc010jxb.1_Missense_Mutation_p.A416V	p.A416V	NM_145027	NP_659464	Q6ZMV9	KIF6_HUMAN			11	1342	-			416					Q2MDE3|Q2MDE4|Q5T8J6|Q6ZWE3|Q86T87|Q8WTV4	Missense_Mutation	SNP	ENST00000287152.7	37	c.1247C>T	CCDS4844.1	1|1	4.578754578754579E-4|4.578754578754579E-4	0|0	0.0|0.0	0|0	0.0|0.0	0|0	0.0|0.0	1|1	0.0013192612137203166|0.0013192612137203166	G|G	12.71|12.71	2.019617|2.019617	0.35606|0.35606	2.27E-4|2.27E-4	0.0|0.0	ENSG00000164627|ENSG00000164627	ENST00000287152;ENST00000373216;ENST00000373213;ENST00000373215;ENST00000538893|ENST00000458470	T;T;T;T;T|.	0.72615|.	-0.65;-0.64;-0.47;-0.64;-0.67|.	5.56|5.56	5.56|5.56	0.83823|0.83823	.|.	.|.	.|.	.|.	.|.	T|T	0.62441|0.62441	0.2428|0.2428	L|L	0.57536|0.57536	1.79|1.79	0.80722|0.80722	D|D	1|1	P;B;B;P|.	0.46784|.	0.884;0.158;0.297;0.816|.	B;B;B;B|.	0.40506|.	0.331;0.147;0.095;0.124|.	T|T	0.60900|0.60900	-0.7171|-0.7171	9|5	0.28530|.	T|.	0.3|.	.|.	15.0307|15.0307	0.71705|0.71705	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	416;416;416;416|.	E7EUN7;F6VGH2;Q6ZMV9-3;Q6ZMV9|.	.;.;.;KIF6_HUMAN|.	V|W	416;416;255;416;416|308	ENSP00000287152:A416V;ENSP00000362312:A416V;ENSP00000362309:A255V;ENSP00000362311:A416V;ENSP00000441435:A416V|.	ENSP00000287152:A416V|.	A|R	-|-	2|1	0|2	KIF6|KIF6	39621377|39621377	0.380000|0.380000	0.25131|0.25131	0.019000|0.019000	0.16419|0.16419	0.304000|0.304000	0.27724|0.27724	5.193000|5.193000	0.65120|0.65120	2.609000|2.609000	0.88269|0.88269	0.561000|0.561000	0.74099|0.74099	GCG|CGG		0.363	KIF6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040455.2	NM_145027	
TMEM63B	55362	broad.mit.edu	37	6	44122464	44122464	+	Silent	SNP	G	G	A			TCGA-32-5222-01A-01D-1486-08	TCGA-32-5222-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f48abf4d-f1fb-48bf-97a1-0c38435b6af7	fd30b963-9361-4b8d-a80a-37958b0a40d5	g.chr6:44122464G>A	ENST00000259746.9	+	24	2526	c.2343G>A	c.(2341-2343)gtG>gtA	p.V781V	TMEM63B_ENST00000323267.6_Silent_p.V781V			Q5T3F8	CSCL2_HUMAN	transmembrane protein 63B	781					ion transport (GO:0006811)	integral component of membrane (GO:0016021)	nucleotide binding (GO:0000166)			breast(3)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(8)|ovary(1)|pancreas(2)|prostate(2)|stomach(4)	35	all_cancers(18;1.66e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00309)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0215)			ACTCAGAGGTGGACGGGGATG	0.607																																						uc003owr.2																			0				pancreas(2)|central_nervous_system(1)	3						c.(2341-2343)GTG>GTA		transmembrane protein 63B							49.0	50.0	49.0					6																	44122464		2203	4300	6503	SO:0001819	synonymous_variant	55362					integral to membrane	nucleotide binding|protein binding	g.chr6:44122464G>A	BC022095	CCDS34461.1	6p21.1	2008-02-05	2005-07-25	2005-07-25	ENSG00000137216	ENSG00000137216			17735	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 110"""	C6orf110			Standard	XM_005249211		Approved	DKFZp434P0531, dJ421H19.2	uc003owr.3	Q5T3F8	OTTHUMG00000014757	ENST00000259746.9:c.2343G>A	6.37:g.44122464G>A						TMEM63B_uc003ows.2_Silent_p.V684V|TMEM63B_uc010jyz.2_RNA	p.V781V	NM_018426	NP_060896	Q5T3F8	TM63B_HUMAN	Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0215)		24	2407	+	all_cancers(18;1.66e-06)|Lung NSC(15;0.00108)|all_lung(25;0.00278)|Hepatocellular(11;0.00309)|Ovarian(13;0.0273)		781					B9EGU3|Q5T3F9|Q6AHX4|Q6P5A0|Q8N219|Q8NDE1|Q9NSG5	Silent	SNP	ENST00000259746.9	37	c.2343G>A	CCDS34461.1	.	.	.	.	.	.	.	.	.	.	G	7.454	0.643229	0.14451	.	.	ENSG00000137216	ENST00000371893	.	.	.	3.9	1.04	0.20106	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	0.6307	0.00794	0.2012:0.1535:0.3053:0.34	.	.	.	.	X	710	.	.	W	+	2	0	TMEM63B	44230442	0.004000	0.15560	0.985000	0.45067	0.985000	0.73830	-0.206000	0.09398	0.012000	0.14892	0.462000	0.41574	TGG		0.607	TMEM63B-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040712.2	XM_166410	
TDRD6	221400	broad.mit.edu	37	6	46656737	46656737	+	Missense_Mutation	SNP	C	C	T			TCGA-32-5222-01A-01D-1486-08	TCGA-32-5222-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f48abf4d-f1fb-48bf-97a1-0c38435b6af7	fd30b963-9361-4b8d-a80a-37958b0a40d5	g.chr6:46656737C>T	ENST00000316081.6	+	1	872	c.872C>T	c.(871-873)aCg>aTg	p.T291M	RP11-446F17.3_ENST00000434329.2_RNA|TDRD6_ENST00000544460.1_Missense_Mutation_p.T291M|RP11-446F17.3_ENST00000422284.2_RNA|RP11-446F17.3_ENST00000571590.1_RNA	NM_001010870.2	NP_001010870.1	O60522	TDRD6_HUMAN	tudor domain containing 6	291					germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|P granule (GO:0043186)				NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80			Lung(136;0.192)			CGGGGTTCCACGGGGACAGGG	0.637																																						uc003oyj.2																			0				breast(3)|ovary(2)|skin(1)	6						c.(871-873)ACG>ATG		tudor domain containing 6							38.0	38.0	38.0					6																	46656737		2203	4300	6503	SO:0001583	missense	221400				cell differentiation|multicellular organismal development|spermatogenesis	chromatoid body	nucleic acid binding	g.chr6:46656737C>T	AF039442	CCDS34470.1, CCDS55017.1	6p12.3	2013-01-23			ENSG00000180113	ENSG00000180113		"""Tudor domain containing"""	21339	protein-coding gene	gene with protein product	"""cancer/testis antigen 41.2"", ""spermatogenesis associated 36"""	611200				9610721	Standard	NM_001010870		Approved	NY-CO-45, bA446F17.4, CT41.2, SPATA36	uc003oyj.3	O60522	OTTHUMG00000014788	ENST00000316081.6:c.872C>T	6.37:g.46656737C>T	ENSP00000346065:p.Thr291Met					TDRD6_uc010jze.2_Missense_Mutation_p.T285M	p.T291M	NM_001010870	NP_001010870	O60522	TDRD6_HUMAN	Lung(136;0.192)		1	872	+			291					B3KWU2|F5H5M3|Q5HYB1|Q5VTS4|Q6ZMX5	Missense_Mutation	SNP	ENST00000316081.6	37	c.872C>T	CCDS34470.1	.	.	.	.	.	.	.	.	.	.	C	0.970	-0.700351	0.03279	.	.	ENSG00000180113	ENST00000544460;ENST00000316081	T;T	0.09911	2.93;2.93	5.34	1.09	0.20402	Maternal tudor protein (1);	2.209180	0.01628	N	0.023383	T	0.02455	0.0075	L	0.38175	1.15	0.09310	N	1	P;P	0.40602	0.676;0.723	B;B	0.24541	0.032;0.054	T	0.41893	-0.9483	10	0.46703	T	0.11	-15.468	8.3072	0.32049	0.0:0.5481:0.0:0.4519	.	291;291	F5H5M3;O60522	.;TDRD6_HUMAN	M	291	ENSP00000443299:T291M;ENSP00000346065:T291M	ENSP00000346065:T291M	T	+	2	0	TDRD6	46764696	0.000000	0.05858	0.000000	0.03702	0.029000	0.11900	-1.577000	0.02127	-0.003000	0.14444	0.655000	0.94253	ACG		0.637	TDRD6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040800.1	XM_166443	
GSTA1	2938	broad.mit.edu	37	6	52659006	52659006	+	Missense_Mutation	SNP	C	C	T	rs1051733		TCGA-32-5222-01A-01D-1486-08	TCGA-32-5222-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f48abf4d-f1fb-48bf-97a1-0c38435b6af7	fd30b963-9361-4b8d-a80a-37958b0a40d5	g.chr6:52659006C>T	ENST00000334575.5	-	5	486	c.331G>A	c.(331-333)Gta>Ata	p.V111I	GSTA1_ENST00000493331.1_5'UTR	NM_145740.3	NP_665683.1	P08263	GSTA1_HUMAN	glutathione S-transferase alpha 1	111	GST C-terminal.				epithelial cell differentiation (GO:0030855)|glutathione derivative biosynthetic process (GO:1901687)|glutathione metabolic process (GO:0006749)|metabolic process (GO:0008152)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	glutathione transferase activity (GO:0004364)			large_intestine(2)|lung(8)|ovary(1)|upper_aerodigestive_tract(1)	12	Lung NSC(77;0.118)				Azathioprine(DB00993)|Busulfan(DB01008)|Glutathione(DB00143)	GGTGGACATACGGGCAGAAGG	0.393													.|||	1	0.000199681	0.0008	0.0	5008	,	,		19385	0.0		0.0	False		,,,				2504	0.0					uc003paz.2																			0				ovary(1)	1						c.(331-333)GTA>ATA		glutathione S-transferase alpha 1	Amsacrine(DB00276)|Busulfan(DB01008)|Glutathione(DB00143)	C	ILE/VAL	0,4406		0,0,2203	187.0	178.0	181.0		331	-5.2	0.0	6	dbSNP_86	181	1,8599		0,1,4299	no	missense	GSTA1	NM_145740.3	29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	111/223	52659006	1,13005	2203	4300	6503	SO:0001583	missense	2938				glutathione metabolic process|xenobiotic metabolic process	cytosol	glutathione transferase activity	g.chr6:52659006C>T		CCDS4945.1	6p12.2	2012-06-21	2008-11-26		ENSG00000243955	ENSG00000243955	2.5.1.18	"""Glutathione S-transferases / Soluble"""	4626	protein-coding gene	gene with protein product		138359	"""glutathione S-transferase A1"""			9503014	Standard	NM_145740		Approved		uc003paz.3	P08263	OTTHUMG00000014861	ENST00000334575.5:c.331G>A	6.37:g.52659006C>T	ENSP00000335620:p.Val111Ile						p.V111I	NM_145740	NP_665683	P08263	GSTA1_HUMAN			5	443	-	Lung NSC(77;0.118)		111			GST C-terminal.		Q14750|Q5GHF8|Q5SZC1	Missense_Mutation	SNP	ENST00000334575.5	37	c.331G>A	CCDS4945.1	.	.	.	.	.	.	.	.	.	.	N	0.058	-1.230832	0.01518	0.0	1.16E-4	ENSG00000243955	ENST00000334575	T	0.12255	2.7	2.58	-5.17	0.02849	Glutathione S-transferase, C-terminal-like (2);Glutathione S-transferase/chloride channel, C-terminal (1);Glutathione S-transferase, C-terminal (1);	1.065940	0.07308	N	0.875388	T	0.00815	0.0027	N	0.01705	-0.755	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.40156	-0.9578	10	0.45353	T	0.12	.	0.3635	0.00368	0.3254:0.2393:0.2262:0.2091	.	111	P08263	GSTA1_HUMAN	I	111	ENSP00000335620:V111I	ENSP00000335620:V111I	V	-	1	0	GSTA1	52766965	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-3.587000	0.00422	-4.574000	0.00041	-3.377000	0.00040	GTA		0.393	GSTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040922.1		
DPPA5	340168	broad.mit.edu	37	6	74063914	74063914	+	Missense_Mutation	SNP	G	G	A			TCGA-32-5222-01A-01D-1486-08	TCGA-32-5222-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f48abf4d-f1fb-48bf-97a1-0c38435b6af7	fd30b963-9361-4b8d-a80a-37958b0a40d5	g.chr6:74063914G>A	ENST00000370370.3	-	1	104	c.35C>T	c.(34-36)cCg>cTg	p.P12L		NM_001025290.2	NP_001020461.1	A6NC42	DPPA5_HUMAN	developmental pluripotency associated 5	12					multicellular organismal development (GO:0007275)	cytoplasm (GO:0005737)	RNA binding (GO:0003723)			NS(1)|endometrium(1)|lung(5)	7						TTTCACCCACGGCGGGATATG	0.582																																						uc003pgs.1																			0					0						c.(34-36)CCG>CTG		developmental pluripotency associated 5							69.0	62.0	64.0					6																	74063914		2203	4300	6503	SO:0001583	missense	340168				multicellular organismal development	cytoplasm	RNA binding	g.chr6:74063914G>A		CCDS34483.1	6q13	2014-01-28			ENSG00000203909	ENSG00000203909			19201	protein-coding gene	gene with protein product		611111					Standard	NM_001025290		Approved	Esg1	uc003pgs.2	A6NC42	OTTHUMG00000015025	ENST00000370370.3:c.35C>T	6.37:g.74063914G>A	ENSP00000359396:p.Pro12Leu						p.P12L	NM_001025290	NP_001020461	A6NC42	DPPA5_HUMAN			1	40	-			12					B2RPQ7	Missense_Mutation	SNP	ENST00000370370.3	37	c.35C>T	CCDS34483.1	.	.	.	.	.	.	.	.	.	.	G	3.109	-0.183072	0.06340	.	.	ENSG00000203909	ENST00000370370	T	0.11712	2.75	3.6	1.73	0.24493	.	0.144833	0.32655	N	0.005818	T	0.01730	0.0055	N	0.19112	0.55	0.09310	N	0.999999	B	0.23990	0.095	B	0.17979	0.02	T	0.43540	-0.9385	10	0.44086	T	0.13	.	4.0911	0.09970	0.123:0.0:0.6459:0.2312	.	12	A6NC42	DPPA5_HUMAN	L	12	ENSP00000359396:P12L	ENSP00000359396:P12L	P	-	2	0	DPPA5	74120635	0.486000	0.25980	0.002000	0.10522	0.088000	0.18126	0.708000	0.25719	0.490000	0.27771	0.485000	0.47835	CCG		0.582	DPPA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041203.3	NM_001025290	
CEP162	22832	broad.mit.edu	37	6	84911454	84911454	+	Splice_Site	SNP	C	C	G			TCGA-32-5222-01A-01D-1486-08	TCGA-32-5222-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f48abf4d-f1fb-48bf-97a1-0c38435b6af7	fd30b963-9361-4b8d-a80a-37958b0a40d5	g.chr6:84911454C>G	ENST00000403245.3	-	8	833		c.e8+1		KIAA1009_ENST00000257766.4_Splice_Site	NM_014895.2	NP_055710.2														breast(2)|central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	43		all_cancers(76;1.5e-06)|Acute lymphoblastic leukemia(125;2.69e-07)|all_hematologic(105;0.000151)|all_epithelial(107;0.00258)		BRCA - Breast invasive adenocarcinoma(397;0.089)		ATAATATTTACCATTAGCAAG	0.264																																						uc010kbp.2																			0				ovary(1)	1						c.e8+1		KIAA1009 protein							14.0	15.0	15.0					6																	84911454		2164	4236	6400	SO:0001630	splice_region_variant	22832				cell division|mitosis	centrosome|nucleus|plasma membrane|spindle	protein binding	g.chr6:84911454C>G																												ENST00000403245.3:c.718+1G>C	6.37:g.84911454C>G						KIAA1009_uc003pkj.3_Splice_Site_p.V164_splice|KIAA1009_uc003pkk.2_Splice_Site_p.V240_splice	p.V240_splice	NM_014895	NP_055710	Q5TB80	QN1_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.089)	8	815	-		all_cancers(76;1.5e-06)|Acute lymphoblastic leukemia(125;2.69e-07)|all_hematologic(105;0.000151)|all_epithelial(107;0.00258)							Splice_Site	SNP	ENST00000403245.3	37	c.718_splice	CCDS34494.2	.	.	.	.	.	.	.	.	.	.	C	16.79	3.219259	0.58560	.	.	ENSG00000135315	ENST00000257766;ENST00000403245	.	.	.	5.26	4.39	0.52855	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.6908	0.51514	0.1768:0.8232:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	KIAA1009	84968173	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	4.322000	0.59215	1.343000	0.45638	0.563000	0.77884	.		0.264	KIAA1009-004	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317315.1		Intron
RAET1G	353091	broad.mit.edu	37	6	150240886	150240886	+	Missense_Mutation	SNP	G	G	A			TCGA-32-5222-01A-01D-1486-08	TCGA-32-5222-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f48abf4d-f1fb-48bf-97a1-0c38435b6af7	fd30b963-9361-4b8d-a80a-37958b0a40d5	g.chr6:150240886G>A	ENST00000367360.2	-	2	219	c.152C>T	c.(151-153)gCg>gTg	p.A51V	RAET1E-AS1_ENST00000446954.2_RNA|RAET1E-AS1_ENST00000605899.1_RNA|RP11-244K5.8_ENST00000606915.1_RNA|RAET1G_ENST00000479265.1_Missense_Mutation_p.A51V	NM_001001788.2	NP_001001788.2			retinoic acid early transcript 1G											NS(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(4)|urinary_tract(1)	13		Ovarian(120;0.0907)	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;2.73e-12)		GCCTTGAACCGCACACCACCG	0.532																																						uc010kii.1																			0					0						c.(151-153)GCG>GTG		retinoic acid early transcript 1G precursor							99.0	100.0	100.0					6																	150240886		2203	4297	6500	SO:0001583	missense	353091				antigen processing and presentation|immune response	integral to membrane|MHC class I protein complex	protein binding	g.chr6:150240886G>A	AY172579	CCDS43514.1	6q24.1-25.1	2009-04-29	2004-11-22		ENSG00000203722	ENSG00000203722			16795	protein-coding gene	gene with protein product		609244	"""retinoic acid early transcript 1G pseudogene"""			11827464, 15240696	Standard	NM_001001788		Approved	ULBP5	uc010kii.1	Q6H3X3	OTTHUMG00000015802	ENST00000367360.2:c.152C>T	6.37:g.150240886G>A	ENSP00000356329:p.Ala51Val					RAET1G_uc003qnm.2_RNA	p.A51V	NM_001001788	NP_001001788	Q6H3X3	RET1G_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;2.73e-12)	2	220	-		Ovarian(120;0.0907)	51			MHC class I alpha-1 like.|Extracellular (Potential).			Missense_Mutation	SNP	ENST00000367360.2	37	c.152C>T	CCDS43514.1	.	.	.	.	.	.	.	.	.	.	G	8.806	0.934055	0.18206	.	.	ENSG00000203722	ENST00000367360;ENST00000479265	T;T	0.05382	3.45;3.45	2.4	-0.278	0.12894	MHC class I, alpha chain, alpha1/alpha2 (1);MHC classes I/II-like antigen recognition protein (1);MHC class I-like antigen recognition (1);	.	.	.	.	T	0.00608	0.0020	N	0.00621	-1.32	0.09310	N	1	B	0.20671	0.047	B	0.25140	0.058	T	0.46190	-0.9209	9	0.41790	T	0.15	.	6.668	0.23052	0.0:0.0:0.5193:0.4807	.	51	Q6H3X3	RET1G_HUMAN	V	51	ENSP00000356329:A51V;ENSP00000417503:A51V	ENSP00000356329:A51V	A	-	2	0	RAET1G	150282579	0.000000	0.05858	0.008000	0.14137	0.006000	0.05464	-0.722000	0.04958	-0.045000	0.13468	-0.558000	0.04189	GCG		0.532	RAET1G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042668.2		
HECW1	23072	broad.mit.edu	37	7	43484403	43484403	+	Silent	SNP	G	G	A			TCGA-32-5222-01A-01D-1486-08	TCGA-32-5222-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f48abf4d-f1fb-48bf-97a1-0c38435b6af7	fd30b963-9361-4b8d-a80a-37958b0a40d5	g.chr7:43484403G>A	ENST00000395891.2	+	11	2237	c.1632G>A	c.(1630-1632)acG>acA	p.T544T	HECW1_ENST00000453890.1_Silent_p.T544T	NM_015052.3	NP_055867.3	Q76N89	HECW1_HUMAN	HECT, C2 and WW domain containing E3 ubiquitin protein ligase 1	544					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(2)|breast(10)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(17)|lung(57)|ovary(8)|pancreas(2)|prostate(2)|skin(6)|urinary_tract(3)	125						AGCTGGAGACGGTGATCGCGT	0.672																																						uc003tid.1																			0				ovary(8)|lung(6)|breast(4)|skin(4)|pancreas(1)	23						c.(1630-1632)ACG>ACA		NEDD4-like ubiquitin-protein ligase 1							41.0	51.0	48.0					7																	43484403		2110	4223	6333	SO:0001819	synonymous_variant	23072				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin-protein ligase activity	g.chr7:43484403G>A	AB048365	CCDS5469.2, CCDS69286.1	7p13	2004-12-13			ENSG00000002746	ENSG00000002746			22195	protein-coding gene	gene with protein product		610384				12690205, 14684739	Standard	XM_005249665		Approved	KIAA0322, NEDL1	uc003tid.1	Q76N89	OTTHUMG00000128917	ENST00000395891.2:c.1632G>A	7.37:g.43484403G>A						HECW1_uc011kbi.1_Silent_p.T544T	p.T544T	NM_015052	NP_055867	Q76N89	HECW1_HUMAN			11	2237	+			544					A7E2X0|A8MYS3|B4DH42|O15036|Q9HCC7	Silent	SNP	ENST00000395891.2	37	c.1632G>A	CCDS5469.2																																																																																				0.672	HECW1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250893.2	NM_015052	
SEMA3C	10512	broad.mit.edu	37	7	80433421	80433421	+	Splice_Site	SNP	C	C	G	rs199843225		TCGA-32-5222-01A-01D-1486-08	TCGA-32-5222-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f48abf4d-f1fb-48bf-97a1-0c38435b6af7	fd30b963-9361-4b8d-a80a-37958b0a40d5	g.chr7:80433421C>G	ENST00000265361.3	-	8	1363		c.e8+1		SEMA3C_ENST00000419255.2_Splice_Site|SEMA3C_ENST00000544525.1_Splice_Site|SEMA3C_ENST00000536800.1_Splice_Site	NM_006379.3	NP_006370.1	Q99985	SEM3C_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3C						axon guidance (GO:0007411)|blood vessel remodeling (GO:0001974)|cardiac right ventricle morphogenesis (GO:0003215)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|immune response (GO:0006955)|limb bud formation (GO:0060174)|neural crest cell migration (GO:0001755)|neural tube development (GO:0021915)|outflow tract morphogenesis (GO:0003151)|post-embryonic development (GO:0009791)|pulmonary myocardium development (GO:0003350)|response to drug (GO:0042493)|somitogenesis (GO:0001756)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	receptor activity (GO:0004872)			NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	34						TTAATACTTACAGGACATATT	0.323																																						uc003uhj.2																			0				ovary(1)	1						c.e8+1		semaphorin 3C precursor							139.0	131.0	134.0					7																	80433421		2203	4300	6503	SO:0001630	splice_region_variant	10512				immune response|response to drug	membrane	receptor activity	g.chr7:80433421C>G	AB000220	CCDS5596.1	7q21-q31	2013-01-11			ENSG00000075223	ENSG00000075223		"""Semaphorins"", ""Immunoglobulin superfamily / I-set domain containing"""	10725	protein-coding gene	gene with protein product		602645		SEMAE		7748561, 9168980	Standard	NM_006379		Approved	SemE	uc003uhj.3	Q99985	OTTHUMG00000023447	ENST00000265361.3:c.801+1G>C	7.37:g.80433421C>G						SEMA3C_uc011kgw.1_Splice_Site_p.P285_splice|SEMA3C_uc011kgx.1_Splice_Site_p.P119_splice	p.P267_splice	NM_006379	NP_006370	Q99985	SEM3C_HUMAN			8	1363	-								B4DRL8	Splice_Site	SNP	ENST00000265361.3	37	c.801_splice	CCDS5596.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.080978	0.76528	.	.	ENSG00000075223	ENST00000265361;ENST00000419255;ENST00000544525;ENST00000536800	.	.	.	5.62	4.73	0.59995	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.9328	0.70929	0.0:0.9299:0.0:0.07	.	.	.	.	.	-1	.	.	.	-	.	.	SEMA3C	80271357	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	6.044000	0.71012	2.637000	0.89404	0.585000	0.79938	.		0.323	SEMA3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253279.1	NM_006379	Intron
PCLO	27445	broad.mit.edu	37	7	82585982	82585982	+	Silent	SNP	A	A	G			TCGA-32-5222-01A-01D-1486-08	TCGA-32-5222-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f48abf4d-f1fb-48bf-97a1-0c38435b6af7	fd30b963-9361-4b8d-a80a-37958b0a40d5	g.chr7:82585982A>G	ENST00000333891.9	-	5	4624	c.4287T>C	c.(4285-4287)gaT>gaC	p.D1429D	PCLO_ENST00000423517.2_Silent_p.D1429D	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein											breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						CTGACTTTTCATCAGCAAGTG	0.398																																						uc003uhx.2																			0				ovary(7)	7						c.(4285-4287)GAT>GAC		piccolo isoform 1							134.0	122.0	126.0					7																	82585982		1830	4074	5904	SO:0001819	synonymous_variant	27445				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	g.chr7:82585982A>G	AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"""aczonin"""	604918	"""piccolo (presynaptic cytomatrix protein)"""			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.4287T>C	7.37:g.82585982A>G						PCLO_uc003uhv.2_Silent_p.D1429D	p.D1429D	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN			5	4576	-			1360						Silent	SNP	ENST00000333891.9	37	c.4287T>C	CCDS47630.1																																																																																				0.398	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510	
ADAM28	10863	broad.mit.edu	37	8	24178776	24178776	+	Missense_Mutation	SNP	T	T	C			TCGA-32-5222-01A-01D-1486-08	TCGA-32-5222-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f48abf4d-f1fb-48bf-97a1-0c38435b6af7	fd30b963-9361-4b8d-a80a-37958b0a40d5	g.chr8:24178776T>C	ENST00000265769.4	+	8	804	c.694T>C	c.(694-696)Ttt>Ctt	p.F232L	RP11-624C23.1_ENST00000523578.1_RNA|RP11-624C23.1_ENST00000518988.1_RNA|RP11-624C23.1_ENST00000523700.1_RNA|ADAM28_ENST00000397649.3_Intron|ADAM28_ENST00000540823.1_5'UTR|ADAM28_ENST00000437154.2_Missense_Mutation_p.F232L|RP11-624C23.1_ENST00000519689.1_RNA	NM_014265.4	NP_055080.2	Q9UKQ2	ADA28_HUMAN	ADAM metallopeptidase domain 28	232	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				spermatogenesis (GO:0007283)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(7)|prostate(1)|skin(12)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	42		Prostate(55;0.0959)		Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175)		AAAGAGGGTATTTGAGATGGC	0.323																																					NSCLC(193;488 2149 22258 34798 40734)	uc003xdy.2																			0				skin(3)|lung(1)|central_nervous_system(1)	5						c.(694-696)TTT>CTT		ADAM metallopeptidase domain 28 isoform 1							134.0	138.0	137.0					8																	24178776		2203	4300	6503	SO:0001583	missense	10863				proteolysis|spermatogenesis	extracellular region|integral to membrane|plasma membrane	metalloendopeptidase activity|zinc ion binding	g.chr8:24178776T>C	AJ242015	CCDS34865.1, CCDS47830.1	8p21.2	2005-11-29	2005-08-18		ENSG00000042980	ENSG00000042980		"""ADAM metallopeptidase domain containing"""	206	protein-coding gene	gene with protein product		606188	"""a disintegrin and metalloproteinase domain 28"""				Standard	XM_005273378		Approved	eMDCII, MDC-Lm, MDC-Ls, ADAM23	uc003xdy.3	Q9UKQ2	OTTHUMG00000163780	ENST00000265769.4:c.694T>C	8.37:g.24178776T>C	ENSP00000265769:p.Phe232Leu					ADAM28_uc003xdx.2_Missense_Mutation_p.F232L|ADAM28_uc011kzz.1_5'UTR|ADAM28_uc011laa.1_Intron	p.F232L	NM_014265	NP_055080	Q9UKQ2	ADA28_HUMAN		Colorectal(74;0.0129)|COAD - Colon adenocarcinoma(73;0.0434)|BRCA - Breast invasive adenocarcinoma(99;0.175)	8	777	+		Prostate(55;0.0959)	232			Peptidase M12B.|Extracellular (Potential).		B2RMV5|Q9Y339|Q9Y3S0	Missense_Mutation	SNP	ENST00000265769.4	37	c.694T>C	CCDS34865.1	.	.	.	.	.	.	.	.	.	.	T	14.80	2.643285	0.47153	.	.	ENSG00000042980	ENST00000265769;ENST00000437154	T;T	0.07444	3.19;3.19	5.16	2.78	0.32641	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	.	.	.	.	T	0.04452	0.0122	N	0.16368	0.405	0.80722	D	1	B;B	0.25351	0.026;0.124	B;B	0.29663	0.022;0.105	T	0.35126	-0.9801	9	0.07644	T	0.81	.	6.5071	0.22202	0.0:0.2014:0.0:0.7986	.	232;232	Q9UKQ2;Q9UKQ2-2	ADA28_HUMAN;.	L	232	ENSP00000265769:F232L;ENSP00000393699:F232L	ENSP00000265769:F232L	F	+	1	0	ADAM28	24234721	0.937000	0.31787	0.462000	0.27118	0.951000	0.60555	1.465000	0.35299	0.385000	0.24970	0.528000	0.53228	TTT		0.323	ADAM28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375441.2	NM_021778	
ST18	9705	broad.mit.edu	37	8	53044717	53044717	+	Missense_Mutation	SNP	C	C	T			TCGA-32-5222-01A-01D-1486-08	TCGA-32-5222-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f48abf4d-f1fb-48bf-97a1-0c38435b6af7	fd30b963-9361-4b8d-a80a-37958b0a40d5	g.chr8:53044717C>T	ENST00000276480.7	-	22	3150	c.2467G>A	c.(2467-2469)Ggc>Agc	p.G823S		NM_014682.2	NP_055497.1	O60284	ST18_HUMAN	suppression of tumorigenicity 18, zinc finger	823					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(14)|lung(38)|ovary(4)|prostate(2)|skin(11)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	85		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)				TGACCTTGGCCATCACACCCT	0.498																																						uc003xqz.2																			0				ovary(4)|skin(1)	5						c.(2467-2469)GGC>AGC		suppression of tumorigenicity 18							97.0	81.0	87.0					8																	53044717		2203	4300	6503	SO:0001583	missense	9705					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:53044717C>T	AB011107	CCDS6149.1	8q11.23	2014-03-24	2014-03-24	2002-12-13	ENSG00000147488	ENSG00000147488		"""Zinc fingers, C2HC-type containing"""	18695	protein-coding gene	gene with protein product	"""neural zinc finger transcription factor 3"""		"""zinc finger protein 387"", ""suppression of tumorigenicity 18 (breast carcinoma) (zinc finger protein)"""	ZNF387		15489893	Standard	NM_014682		Approved	KIAA0535, ZC2HC10, NZF3	uc003xra.2	O60284	OTTHUMG00000164233	ENST00000276480.7:c.2467G>A	8.37:g.53044717C>T	ENSP00000276480:p.Gly823Ser					ST18_uc011ldq.1_Missense_Mutation_p.G470S|ST18_uc011ldr.1_Missense_Mutation_p.G788S|ST18_uc011lds.1_Missense_Mutation_p.G728S|ST18_uc003xra.2_Missense_Mutation_p.G823S	p.G823S	NM_014682	NP_055497	O60284	ST18_HUMAN			17	2623	-		Lung NSC(129;0.131)|all_epithelial(80;0.217)|all_lung(136;0.229)	823			C2HC-type 5.		Q17RY1	Missense_Mutation	SNP	ENST00000276480.7	37	c.2467G>A	CCDS6149.1	.	.	.	.	.	.	.	.	.	.	C	28.7	4.946750	0.92593	.	.	ENSG00000147488	ENST00000276480	T	0.64438	-0.1	5.37	4.5	0.54988	.	0.050710	0.85682	N	0.000000	T	0.73305	0.3570	L	0.48986	1.54	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.73864	-0.3848	10	0.46703	T	0.11	-13.7419	14.1208	0.65186	0.0:0.9277:0.0:0.0723	.	823	O60284	ST18_HUMAN	S	823	ENSP00000276480:G823S	ENSP00000276480:G823S	G	-	1	0	ST18	53207270	1.000000	0.71417	0.980000	0.43619	0.963000	0.63663	5.844000	0.69430	1.389000	0.46526	0.591000	0.81541	GGC		0.498	ST18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377867.1		
ZNF623	9831	broad.mit.edu	37	8	144732707	144732707	+	Missense_Mutation	SNP	T	T	C			TCGA-32-5222-01A-01D-1486-08	TCGA-32-5222-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f48abf4d-f1fb-48bf-97a1-0c38435b6af7	fd30b963-9361-4b8d-a80a-37958b0a40d5	g.chr8:144732707T>C	ENST00000501748.2	+	1	754	c.665T>C	c.(664-666)cTg>cCg	p.L222P	ZNF623_ENST00000526926.1_Missense_Mutation_p.L182P|ZNF623_ENST00000458270.2_Missense_Mutation_p.L182P	NM_014789.3	NP_055604	O75123	ZN623_HUMAN	zinc finger protein 623	222					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|kidney(3)|large_intestine(6)|lung(11)|prostate(1)|stomach(1)|urinary_tract(3)	27	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;5.28e-40)|all cancers(56;5.23e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			AGTTCAGACCTGATTAGGCAC	0.478																																						uc003yzd.2																			0					0						c.(664-666)CTG>CCG		zinc finger protein 623 isoform 1							87.0	82.0	84.0					8																	144732707		2203	4300	6503	SO:0001583	missense	9831				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr8:144732707T>C	AB014528	CCDS34957.1, CCDS47931.1	8q24.3	2013-01-08				ENSG00000183309		"""Zinc fingers, C2H2-type"""	29084	protein-coding gene	gene with protein product						9734811	Standard	NM_014789		Approved	KIAA0628	uc003yzd.2	O75123		ENST00000501748.2:c.665T>C	8.37:g.144732707T>C	ENSP00000445979:p.Leu222Pro					ZNF623_uc011lkp.1_Missense_Mutation_p.L182P|ZNF623_uc003yzc.2_Missense_Mutation_p.L182P	p.L222P	NM_014789	NP_055604	O75123	ZN623_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;5.28e-40)|all cancers(56;5.23e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)		1	754	+	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		222			C2H2-type 4.		A4FU80|B4DGP3|E7ENV5	Missense_Mutation	SNP	ENST00000501748.2	37	c.665T>C	CCDS34957.1	.	.	.	.	.	.	.	.	.	.	T	12.12	1.843899	0.32606	.	.	ENSG00000183309	ENST00000526926;ENST00000328466;ENST00000458270;ENST00000532796;ENST00000501748	T;T;T	0.53857	0.6;0.6;0.6	4.34	4.34	0.51931	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.78792	0.4339	H	0.94964	3.605	0.30577	N	0.762951	D	0.89917	1.0	D	0.85130	0.997	T	0.80241	-0.1464	9	0.87932	D	0	-15.767	11.7925	0.52078	0.0:0.0:0.0:1.0	.	222	O75123	ZN623_HUMAN	P	182;182;182;222;222	ENSP00000435232:L182P;ENSP00000411139:L182P;ENSP00000445979:L222P	ENSP00000330358:L182P	L	+	2	0	ZNF623	144803850	0.992000	0.36948	0.833000	0.33012	0.074000	0.17049	7.667000	0.83888	1.945000	0.56424	0.533000	0.62120	CTG		0.478	ZNF623-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382522.3	NM_014789	
PLEC	5339	broad.mit.edu	37	8	144994985	144994985	+	Nonsense_Mutation	SNP	G	G	A	rs137853161		TCGA-32-5222-01A-01D-1486-08	TCGA-32-5222-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f48abf4d-f1fb-48bf-97a1-0c38435b6af7	fd30b963-9361-4b8d-a80a-37958b0a40d5	g.chr8:144994985G>A	ENST00000322810.4	-	32	9584	c.9415C>T	c.(9415-9417)Cga>Tga	p.R3139*	PLEC_ENST00000398774.2_Nonsense_Mutation_p.R2970*|PLEC_ENST00000436759.2_Nonsense_Mutation_p.R3029*|PLEC_ENST00000345136.3_Nonsense_Mutation_p.R3002*|PLEC_ENST00000357649.2_Nonsense_Mutation_p.R3006*|PLEC_ENST00000356346.3_Nonsense_Mutation_p.R2988*|PLEC_ENST00000527096.1_Nonsense_Mutation_p.R3025*|PLEC_ENST00000354589.3_Nonsense_Mutation_p.R3002*|PLEC_ENST00000354958.2_Nonsense_Mutation_p.R2980*	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	3139	Globular 2.				apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						CGCTCACCTCGCTGCAGCTGC	0.687																																						uc003zaf.1																			0				large_intestine(2)|ovary(2)|pancreas(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)|skin(1)	9	GRCh37	CM050309	PLEC	M	rs137853161	c.(9415-9417)CGA>TGA		plectin isoform 1							20.0	24.0	22.0					8																	144994985		2052	4156	6208	SO:0001587	stop_gained	5339				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle|structural constituent of muscle	g.chr8:144994985G>A	U53204	CCDS43769.1, CCDS43770.1, CCDS43771.1, CCDS43772.1, CCDS43773.1, CCDS43774.1, CCDS43775.1, CCDS47936.1	8q24	2010-02-04	2010-02-04	2010-02-04	ENSG00000178209	ENSG00000178209			9069	protein-coding gene	gene with protein product		601282	"""plectin 1, intermediate filament binding protein, 500kD"", ""epidermolysis bullosa simplex 1 (Ogna)"", ""plectin 1, intermediate filament binding protein 500kDa"""	EBS1, PLEC1		8633055, 8696340	Standard	XM_005250976		Approved	PCN, PLTN	uc003zaf.1	Q15149	OTTHUMG00000165291	ENST00000322810.4:c.9415C>T	8.37:g.144994985G>A	ENSP00000323856:p.Arg3139*					PLEC_uc003zab.1_Nonsense_Mutation_p.R3002*|PLEC_uc003zac.1_Nonsense_Mutation_p.R3006*|PLEC_uc003zad.2_Nonsense_Mutation_p.R3002*|PLEC_uc003zae.1_Nonsense_Mutation_p.R2970*|PLEC_uc003zag.1_Nonsense_Mutation_p.R2980*|PLEC_uc003zah.2_Nonsense_Mutation_p.R2988*|PLEC_uc003zaj.2_Nonsense_Mutation_p.R3029*	p.R3139*	NM_201380	NP_958782	Q15149	PLEC_HUMAN			32	9585	-			3139			Plectin 6.|Globular 2.		Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Nonsense_Mutation	SNP	ENST00000322810.4	37	c.9415C>T	CCDS43772.1	.	.	.	.	.	.	.	.	.	.	G	49	15.377758	0.99832	.	.	ENSG00000178209	ENST00000345136;ENST00000357649;ENST00000354589;ENST00000398774;ENST00000322810;ENST00000354958;ENST00000356346;ENST00000436759;ENST00000527096	.	.	.	4.6	3.71	0.42584	.	0.750881	0.11464	U	0.561429	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.05620	T	0.96	.	13.7863	0.63112	0.0:0.1557:0.8443:0.0	.	.	.	.	X	3002;3006;3002;2970;3139;2980;2988;3029;3025	.	ENSP00000323856:R3139X	R	-	1	2	PLEC	145066973	0.864000	0.29904	0.748000	0.31131	0.005000	0.04900	2.894000	0.48640	1.042000	0.40150	0.448000	0.29417	CGA		0.687	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1	NM_000445	
HEMGN	55363	broad.mit.edu	37	9	100692686	100692686	+	Missense_Mutation	SNP	C	C	T			TCGA-32-5222-01A-01D-1486-08	TCGA-32-5222-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f48abf4d-f1fb-48bf-97a1-0c38435b6af7	fd30b963-9361-4b8d-a80a-37958b0a40d5	g.chr9:100692686C>T	ENST00000259456.3	-	4	1134	c.991G>A	c.(991-993)Gaa>Aaa	p.E331K		NM_018437.3|NM_197978.2	NP_060907.2|NP_932095.1	Q9BXL5	HEMGN_HUMAN	hemogen	331					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)	nucleus (GO:0005634)				NS(1)|kidney(2)|large_intestine(5)|lung(15)|ovary(1)|skin(2)|urinary_tract(1)	27		Acute lymphoblastic leukemia(62;0.0559)				ACAATAATTTCGTTACATGTT	0.358																																						uc004axy.2																			0				ovary(1)	1						c.(991-993)GAA>AAA		hemogen							243.0	242.0	242.0					9																	100692686		2203	4300	6503	SO:0001583	missense	55363				cell differentiation|multicellular organismal development			g.chr9:100692686C>T	AF228713	CCDS6731.1	9q22.33	2014-01-21			ENSG00000136929	ENSG00000136929			17509	protein-coding gene	gene with protein product		610715					Standard	NM_018437		Approved	EDAG, CT155, NDR	uc004axy.4	Q9BXL5	OTTHUMG00000020336	ENST00000259456.3:c.991G>A	9.37:g.100692686C>T	ENSP00000259456:p.Glu331Lys					HEMGN_uc004axz.2_Missense_Mutation_p.E331K	p.E331K	NM_197978	NP_932095	Q9BXL5	HEMGN_HUMAN			3	1099	-		Acute lymphoblastic leukemia(62;0.0559)	331					Q6XAR3|Q86XY5|Q9NPC0	Missense_Mutation	SNP	ENST00000259456.3	37	c.991G>A	CCDS6731.1	.	.	.	.	.	.	.	.	.	.	C	6.018	0.371701	0.11409	.	.	ENSG00000136929	ENST00000375112;ENST00000259456	.	.	.	4.72	2.9	0.33743	.	0.251464	0.34879	N	0.003608	T	0.21801	0.0525	L	0.38175	1.15	0.09310	N	1	P	0.38827	0.649	B	0.29353	0.101	T	0.11867	-1.0570	9	0.46703	T	0.11	-24.0519	7.7345	0.28806	0.0:0.81:0.0:0.19	.	331	Q9BXL5	HEMGN_HUMAN	K	331	.	ENSP00000259456:E331K	E	-	1	0	HEMGN	99732507	0.305000	0.24481	0.087000	0.20705	0.003000	0.03518	1.068000	0.30629	0.749000	0.32854	-0.736000	0.03550	GAA		0.358	HEMGN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053344.2	NM_197978	
OR13C3	138803	broad.mit.edu	37	9	107298286	107298286	+	Missense_Mutation	SNP	G	G	A	rs145157195		TCGA-32-5222-01A-01D-1486-08	TCGA-32-5222-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f48abf4d-f1fb-48bf-97a1-0c38435b6af7	fd30b963-9361-4b8d-a80a-37958b0a40d5	g.chr9:107298286G>A	ENST00000374781.2	-	1	851	c.809C>T	c.(808-810)aCg>aTg	p.T270M		NM_001001961.1	NP_001001961.1	Q8NGS6	O13C3_HUMAN	olfactory receptor, family 13, subfamily C, member 3	270						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|large_intestine(7)|lung(7)|pancreas(1)|prostate(1)|skin(1)	19						AGCTGAGCACGTGGAAAATGC	0.428																																					GBM(86;1248 1274 14222 15028 46219)	uc004bcb.1																			0				pancreas(1)	1						c.(808-810)ACG>ATG		olfactory receptor, family 13, subfamily C,							126.0	119.0	122.0					9																	107298286		2203	4300	6503	SO:0001583	missense	138803				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:107298286G>A		CCDS35089.1	9q31.1	2013-09-24			ENSG00000204246	ENSG00000204246		"""GPCR / Class A : Olfactory receptors"""	14704	protein-coding gene	gene with protein product							Standard	NM_001001961		Approved		uc004bcb.1	Q8NGS6	OTTHUMG00000020406	ENST00000374781.2:c.809C>T	9.37:g.107298286G>A	ENSP00000363913:p.Thr270Met						p.T270M	NM_001001961	NP_001001961	Q8NGS6	O13C3_HUMAN			1	809	-			270			Helical; Name=6; (Potential).		Q5VVG1|Q6IF52	Missense_Mutation	SNP	ENST00000374781.2	37	c.809C>T	CCDS35089.1	.	.	.	.	.	.	.	.	.	.	G	15.69	2.908365	0.52333	.	.	ENSG00000204246	ENST00000374781	T	0.42513	0.97	4.54	2.71	0.32032	GPCR, rhodopsin-like superfamily (1);	0.000000	0.47093	D	0.000250	T	0.75339	0.3836	H	0.98786	4.33	0.36284	D	0.855994	D	0.89917	1.0	D	0.87578	0.998	T	0.82770	-0.0293	10	0.87932	D	0	.	9.3404	0.38076	0.1777:0.0:0.8223:0.0	.	270	Q8NGS6	O13C3_HUMAN	M	270	ENSP00000363913:T270M	ENSP00000363913:T270M	T	-	2	0	OR13C3	106338107	1.000000	0.71417	0.959000	0.39883	0.723000	0.41478	6.463000	0.73530	0.656000	0.30886	-0.126000	0.14955	ACG		0.428	OR13C3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053477.2		
OR13C8	138802	broad.mit.edu	37	9	107331551	107331551	+	Missense_Mutation	SNP	T	T	C			TCGA-32-5222-01A-01D-1486-08	TCGA-32-5222-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f48abf4d-f1fb-48bf-97a1-0c38435b6af7	fd30b963-9361-4b8d-a80a-37958b0a40d5	g.chr9:107331551T>C	ENST00000335040.1	+	1	103	c.103T>C	c.(103-105)Tac>Cac	p.Y35H		NM_001004483.1	NP_001004483.1	Q8NGS7	O13C8_HUMAN	olfactory receptor, family 13, subfamily C, member 8	35						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(12)|ovary(1)|skin(1)	25						TTTGTGGATGTACCTGATGAT	0.443																																						uc011lvo.1																			0				ovary(1)|skin(1)	2						c.(103-105)TAC>CAC		olfactory receptor, family 13, subfamily C,							265.0	251.0	256.0					9																	107331551		2203	4300	6503	SO:0001583	missense	138802				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:107331551T>C		CCDS35090.1	9q31.1	2013-09-24			ENSG00000186943	ENSG00000186943		"""GPCR / Class A : Olfactory receptors"""	15103	protein-coding gene	gene with protein product							Standard	NM_001004483		Approved		uc011lvo.2	Q8NGS7	OTTHUMG00000020409	ENST00000335040.1:c.103T>C	9.37:g.107331551T>C	ENSP00000334068:p.Tyr35His						p.Y35H	NM_001004483	NP_001004483	Q8NGS7	O13C8_HUMAN			1	103	+			35			Helical; Name=1; (Potential).		Q5VVG0|Q96R44	Missense_Mutation	SNP	ENST00000335040.1	37	c.103T>C	CCDS35090.1	.	.	.	.	.	.	.	.	.	.	T	19.23	3.787971	0.70337	.	.	ENSG00000186943	ENST00000335040	T	0.04654	3.58	4.97	4.97	0.65823	.	0.124104	0.36893	N	0.002346	T	0.27663	0.0680	M	0.92970	3.365	0.40059	D	0.975875	D	0.89917	1.0	D	0.73380	0.98	T	0.21999	-1.0229	10	0.87932	D	0	.	12.9272	0.58266	0.0:0.0:0.0:1.0	.	35	Q8NGS7	O13C8_HUMAN	H	35	ENSP00000334068:Y35H	ENSP00000334068:Y35H	Y	+	1	0	OR13C8	106371372	1.000000	0.71417	1.000000	0.80357	0.859000	0.49053	7.169000	0.77578	2.212000	0.71576	0.533000	0.62120	TAC		0.443	OR13C8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053480.1		
SUPT20HL1	100130302	broad.mit.edu	37	X	24381779	24381779	+	IGR	SNP	C	C	T			TCGA-32-5222-01A-01D-1486-08	TCGA-32-5222-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f48abf4d-f1fb-48bf-97a1-0c38435b6af7	fd30b963-9361-4b8d-a80a-37958b0a40d5	g.chrX:24381779C>T								AC004552.1 (14756 upstream) : PDK3 (101558 downstream)																							TGTGATTTGGCCGTGCCTTCA	0.512																																						uc011mjx.1																			0				kidney(1)	1						c.(901-903)GCC>GTC		hypothetical protein LOC100130302							142.0	118.0	126.0					X																	24381779		1568	3580	5148	SO:0001628	intergenic_variant	100130302							g.chrX:24381779C>T																													X.37:g.24381779C>T							p.A301V	NM_001136234	NP_001129706					1	902	+									Missense_Mutation	SNP		37	c.902C>T																																																																																				0	0.512								
DMD	1756	broad.mit.edu	37	X	32380981	32380981	+	Missense_Mutation	SNP	C	C	T			TCGA-32-5222-01A-01D-1486-08	TCGA-32-5222-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f48abf4d-f1fb-48bf-97a1-0c38435b6af7	fd30b963-9361-4b8d-a80a-37958b0a40d5	g.chrX:32380981C>T	ENST00000357033.4	-	37	5455	c.5249G>A	c.(5248-5250)aGg>aAg	p.R1750K	DMD_ENST00000378677.2_Missense_Mutation_p.R1746K	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	1750	Interaction with SYNM. {ECO:0000250}.				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)				TACTAATTTCCTGCAGTGGTC	0.468																																						uc004dda.1																			0				ovary(3)|pancreas(2)|large_intestine(1)	6						c.(5248-5250)AGG>AAG		dystrophin Dp427m isoform							226.0	168.0	188.0					X																	32380981		2202	4300	6502	SO:0001583	missense	1756				muscle filament sliding|peptide biosynthetic process	cell surface|costamere|cytoskeleton|cytosol|dystrophin-associated glycoprotein complex|sarcolemma	actin binding|dystroglycan binding|nitric-oxide synthase binding|protein binding|structural constituent of cytoskeleton|structural constituent of muscle|zinc ion binding	g.chrX:32380981C>T	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.5249G>A	X.37:g.32380981C>T	ENSP00000354923:p.Arg1750Lys					DMD_uc004dcw.2_Missense_Mutation_p.R406K|DMD_uc004dcx.2_Missense_Mutation_p.R409K|DMD_uc004dcz.2_Missense_Mutation_p.R1627K|DMD_uc004dcy.1_Missense_Mutation_p.R1746K|DMD_uc004ddb.1_Missense_Mutation_p.R1742K|DMD_uc010ngo.1_Intron	p.R1750K	NM_004006	NP_003997	P11532	DMD_HUMAN			37	5493	-		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)	1750			Spectrin 12.|Interaction with SYNM (By similarity).		E9PDN1|Q02295|Q14169|Q14170|Q5JYU0|Q6NSJ9|Q7KZ48|Q8N754|Q9UCW3|Q9UCW4	Missense_Mutation	SNP	ENST00000357033.4	37	c.5249G>A	CCDS14233.1	.	.	.	.	.	.	.	.	.	.	C	15.95	2.984767	0.53934	.	.	ENSG00000198947	ENST00000534884;ENST00000378682;ENST00000378684;ENST00000378677;ENST00000357033;ENST00000542849;ENST00000535280	T;T	0.48201	0.82;0.82	5.24	4.38	0.52667	.	0.000000	0.38959	U	0.001509	T	0.51329	0.1668	L	0.54323	1.7	0.80722	D	1	B;P;B;B;B	0.44195	0.058;0.828;0.071;0.021;0.021	B;P;B;B;B	0.47251	0.076;0.542;0.125;0.078;0.078	T	0.50294	-0.8845	10	0.44086	T	0.13	.	14.516	0.67818	0.1476:0.8524:0.0:0.0	.	1742;1750;1746;409;406	P11532-4;P11532;E9PDN5;E7EQS7;E7EQS6	.;DMD_HUMAN;.;.;.	K	1742;409;406;1746;1750;1750;1627	ENSP00000367948:R1746K;ENSP00000354923:R1750K	ENSP00000354923:R1750K	R	-	2	0	DMD	32290902	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	3.961000	0.56759	0.973000	0.38340	0.538000	0.68166	AGG		0.468	DMD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056182.2	NM_004006	
PCDH19	57526	broad.mit.edu	37	X	99661954	99661954	+	Missense_Mutation	SNP	T	T	C			TCGA-32-5222-01A-01D-1486-08	TCGA-32-5222-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f48abf4d-f1fb-48bf-97a1-0c38435b6af7	fd30b963-9361-4b8d-a80a-37958b0a40d5	g.chrX:99661954T>C	ENST00000373034.4	-	1	3317	c.1642A>G	c.(1642-1644)Acg>Gcg	p.T548A	PCDH19_ENST00000255531.7_Missense_Mutation_p.T548A|PCDH19_ENST00000420881.2_Missense_Mutation_p.T548A	NM_001184880.1	NP_001171809.1	Q8TAB3	PCD19_HUMAN	protocadherin 19	548	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(5)|endometrium(11)|kidney(1)|large_intestine(14)|liver(1)|lung(23)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	68						ACCCGCACCGTAGCGTTGCTT	0.587																																						uc010nmz.2																			0				ovary(2)|breast(2)|upper_aerodigestive_tract(1)|urinary_tract(1)|skin(1)	7						c.(1642-1644)ACG>GCG		protocadherin 19 isoform b							127.0	124.0	125.0					X																	99661954		2162	4245	6407	SO:0001583	missense	57526				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chrX:99661954T>C	AB037734	CCDS43976.1, CCDS48141.1, CCDS55462.1	Xq22.1	2014-06-28			ENSG00000165194	ENSG00000165194		"""Cadherins / Protocadherins : Non-clustered"""	14270	protein-coding gene	gene with protein product		300460	"""epilepsy, female restricted, with mental retardation (Juberg-Hellman syndrome)"""	EFMR		11549318, 18469813, 19752159	Standard	NM_020766		Approved	KIAA1313, EIEE9	uc010nmz.3	Q8TAB3	OTTHUMG00000022000	ENST00000373034.4:c.1642A>G	X.37:g.99661954T>C	ENSP00000362125:p.Thr548Ala					PCDH19_uc004efw.3_Missense_Mutation_p.T548A|PCDH19_uc004efx.3_Missense_Mutation_p.T548A	p.T548A	NM_020766	NP_001098713	Q8TAB3	PCD19_HUMAN			1	3318	-			548			Cadherin 5.|Extracellular (Potential).		B0LDS4|E9PAM6|Q5JTG1|Q5JTG2|Q68DT7|Q9P2N3	Missense_Mutation	SNP	ENST00000373034.4	37	c.1642A>G	CCDS55462.1	.	.	.	.	.	.	.	.	.	.	T	17.52	3.410227	0.62399	.	.	ENSG00000165194	ENST00000420881;ENST00000373034;ENST00000255531	T;T;T	0.55234	0.53;0.53;0.53	5.81	5.81	0.92471	Cadherin (5);Cadherin-like (1);	0.000000	0.85682	D	0.000000	T	0.73265	0.3565	M	0.78637	2.42	0.80722	D	1	D;D;D	0.76494	0.998;0.998;0.999	D;D;D	0.83275	0.996;0.971;0.983	T	0.76607	-0.2897	10	0.62326	D	0.03	.	15.0829	0.72127	0.0:0.0:0.0:1.0	.	548;548;548	Q8TAB3;Q8TAB3-2;E9PAM6	PCD19_HUMAN;.;.	A	548	ENSP00000400327:T548A;ENSP00000362125:T548A;ENSP00000255531:T548A	ENSP00000255531:T548A	T	-	1	0	PCDH19	99548610	1.000000	0.71417	0.672000	0.29872	0.860000	0.49131	8.040000	0.89188	1.944000	0.56390	0.417000	0.27973	ACG		0.587	PCDH19-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057479.2	NM_020766	
STAG2	10735	broad.mit.edu	37	X	123202507	123202507	+	Splice_Site	SNP	G	G	T			TCGA-32-5222-01A-01D-1486-08	TCGA-32-5222-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f48abf4d-f1fb-48bf-97a1-0c38435b6af7	fd30b963-9361-4b8d-a80a-37958b0a40d5	g.chrX:123202507G>T	ENST00000371160.1	+	24	2648		c.e24+1		STAG2_ENST00000371144.3_Splice_Site|STAG2_ENST00000354548.5_Splice_Site|STAG2_ENST00000469481.1_Intron|STAG2_ENST00000218089.9_Splice_Site|STAG2_ENST00000371157.3_Splice_Site|STAG2_ENST00000371145.3_Splice_Site	NM_001282418.1	NP_001269347.1	Q8N3U4	STAG2_HUMAN	stromal antigen 2						meiotic nuclear division (GO:0007126)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of DNA endoreduplication (GO:0032876)|sister chromatid cohesion (GO:0007062)|stem cell maintenance (GO:0019827)	actin cytoskeleton (GO:0015629)|chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	chromatin binding (GO:0003682)			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(9)|lung(21)|ovary(5)|prostate(2)|skin(5)|urinary_tract(4)	78						TAAGGAACAGGTTAGTAATTA	0.313																																						uc004etz.3																			0				ovary(4)|skin(1)	5						c.e23+1		stromal antigen 2 isoform b							61.0	56.0	58.0					X																	123202507		2203	4283	6486	SO:0001630	splice_region_variant	10735				cell division|meiosis|mitotic metaphase/anaphase transition|mitotic prometaphase|negative regulation of DNA endoreduplication|sister chromatid cohesion	chromatin|chromosome, centromeric region|nucleoplasm	protein binding	g.chrX:123202507G>T	Z75331	CCDS14607.1, CCDS43990.1	Xq25	2014-09-17			ENSG00000101972	ENSG00000101972			11355	protein-coding gene	gene with protein product		300826				9305759	Standard	NM_001042750		Approved	SA-2, SCC3B	uc004eua.3	Q8N3U4	OTTHUMG00000022725	ENST00000371160.1:c.2358+1G>T	X.37:g.123202507G>T						STAG2_uc004eua.2_Splice_Site_p.Q786_splice|STAG2_uc004eub.2_Splice_Site_p.Q786_splice|STAG2_uc004euc.2_Splice_Site_p.Q786_splice|STAG2_uc004eud.2_Splice_Site_p.Q786_splice|STAG2_uc004eue.2_Splice_Site_p.Q786_splice	p.Q786_splice	NM_006603	NP_006594	Q8N3U4	STAG2_HUMAN			23	2697	+								B1AMT5|D3DTF5|O00540|Q5JTI6|Q68DE9|Q9H1N8	Splice_Site	SNP	ENST00000371160.1	37	c.2358_splice	CCDS14607.1	.	.	.	.	.	.	.	.	.	.	G	23.7	4.451948	0.84209	.	.	ENSG00000101972	ENST00000218089;ENST00000354548;ENST00000371160;ENST00000371157;ENST00000371145;ENST00000371144	.	.	.	5.15	5.15	0.70609	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.9733	0.89119	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	STAG2	123030188	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.314000	0.96306	2.266000	0.75297	0.538000	0.68166	.		0.313	STAG2-018	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000156159.2	NM_006603	Intron
GABRA3	2556	broad.mit.edu	37	X	151533006	151533006	+	Missense_Mutation	SNP	T	T	C			TCGA-32-5222-01A-01D-1486-08	TCGA-32-5222-10A-01D-1486-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	f48abf4d-f1fb-48bf-97a1-0c38435b6af7	fd30b963-9361-4b8d-a80a-37958b0a40d5	g.chrX:151533006T>C	ENST00000370314.4	-	2	275	c.37A>G	c.(37-39)Agc>Ggc	p.S13G	GABRA3_ENST00000535043.1_Missense_Mutation_p.S13G	NM_000808.3	NP_000799.1	P34903	GBRA3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 3	13					gamma-aminobutyric acid signaling pathway (GO:0007214)|ion transmembrane transport (GO:0034220)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	benzodiazepine receptor activity (GO:0008503)|chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			breast(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(6)	37	Acute lymphoblastic leukemia(192;6.56e-05)				Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)|Zolpidem(DB00425)|Zopiclone(DB01198)	ATCCCAAGGCTGGTCATGTAA	0.443																																					NSCLC(142;2578 2613 10251 16743)	uc010ntk.1																			0				ovary(1)	1						c.(37-39)AGC>GGC		gamma-aminobutyric acid A receptor, alpha 3	Alprazolam(DB00404)|Diazepam(DB00829)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)						161.0	137.0	145.0					X																	151533006		2203	4300	6503	SO:0001583	missense	2556				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	benzodiazepine receptor activity|chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity|protein binding	g.chrX:151533006T>C		CCDS14706.1	Xq28	2012-06-22			ENSG00000011677	ENSG00000011677		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4077	protein-coding gene	gene with protein product	"""GABA(A) receptor, alpha 3"""	305660					Standard	NM_000808		Approved		uc010ntk.1	P34903	OTTHUMG00000024183	ENST00000370314.4:c.37A>G	X.37:g.151533006T>C	ENSP00000359337:p.Ser13Gly						p.S13G	NM_000808	NP_000799	P34903	GBRA3_HUMAN			2	277	-	Acute lymphoblastic leukemia(192;6.56e-05)		13					Q8TAF9	Missense_Mutation	SNP	ENST00000370314.4	37	c.37A>G	CCDS14706.1	.	.	.	.	.	.	.	.	.	.	T	0.402	-0.917771	0.02396	.	.	ENSG00000011677	ENST00000370314;ENST00000370311;ENST00000535043	T;T;T	0.70986	-0.53;-0.53;-0.53	5.29	2.89	0.33648	.	2.538680	0.00963	N	0.003120	T	0.48409	0.1498	N	0.03608	-0.345	0.09310	N	1	B	0.10296	0.003	B	0.08055	0.003	T	0.40979	-0.9534	10	0.17832	T	0.49	.	6.2106	0.20628	0.0:0.207:0.0:0.793	.	13	P34903	GBRA3_HUMAN	G	13	ENSP00000359337:S13G;ENSP00000359334:S13G;ENSP00000443527:S13G	ENSP00000359334:S13G	S	-	1	0	GABRA3	151283662	0.037000	0.19845	0.014000	0.15608	0.103000	0.19146	0.944000	0.29043	0.194000	0.20326	0.486000	0.48141	AGC		0.443	GABRA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060921.1	NM_000808	
