#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_match_norm_validation_allele1	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_tumor_sample
AADACL4	343066	broad.mit.edu	37	1	12726726	12726726	+	Missense_Mutation	SNP	A	A	T			TCGA-CF-A3MH-01A-11D-A20D-08	TCGA-CF-A3MH-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8867b16f-cd05-41e9-b3ca-4c72a1ebeb70	8ad1181e-2e1d-40cb-a18d-9240b5ab1733	g.chr1:12726726A>T	ENST00000376221.1	+	4	1204	c.1204A>T	c.(1204-1206)Agt>Tgt	p.S402C		NM_001013630.1	NP_001013652.1	Q5VUY2	ADCL4_HUMAN	arylacetamide deacetylase-like 4	402						integral component of membrane (GO:0016021)	carboxylic ester hydrolase activity (GO:0052689)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(6)|prostate(1)	17	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.000937)|all_lung(284;0.00122)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.81e-07)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0384)		TGCTGTAGTCAGTTATATAAA	0.438																																						uc001auf.2		NaN																	0					0						c.(1204-1206)AGT>TGT		arylacetamide deacetylase-like 4							58.0	63.0	62.0					1																	12726726		2160	4284	6444	SO:0001583	missense	343066					integral to membrane	carboxylesterase activity	g.chr1:12726726A>T		CCDS30590.1	1p36.21	2010-12-14			ENSG00000204518	ENSG00000204518			32038	protein-coding gene	gene with protein product							Standard	XM_006710608		Approved	OTTHUMG00000001889	uc001auf.3	Q5VUY2	OTTHUMG00000001889	ENST00000376221.1:c.1204A>T	1.37:g.12726726A>T	ENSP00000365395:p.Ser402Cys						p.S402C	NM_001013630	NP_001013652	Q5VUY2	ADCL4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;6.81e-07)|COAD - Colon adenocarcinoma(227;0.000274)|BRCA - Breast invasive adenocarcinoma(304;0.000311)|Kidney(185;0.00217)|KIRC - Kidney renal clear cell carcinoma(229;0.00579)|STAD - Stomach adenocarcinoma(313;0.00743)|READ - Rectum adenocarcinoma(331;0.0384)	4	1204	+	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.000937)|all_lung(284;0.00122)|Colorectal(325;0.00215)|Breast(348;0.0042)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)	402			Lumenal (Potential).			Missense_Mutation	SNP	ENST00000376221.1	37	c.1204A>T	CCDS30590.1	.	.	.	.	.	.	.	.	.	.	A	10.05	1.244925	0.22796	.	.	ENSG00000204518	ENST00000376221	T	0.59772	0.24	4.53	-2.4	0.06583	.	0.788210	0.12316	N	0.479759	T	0.50786	0.1636	M	0.83012	2.62	0.09310	N	1	B	0.18461	0.028	B	0.15484	0.013	T	0.52358	-0.8586	10	0.52906	T	0.07	-6.1957	1.8528	0.03172	0.4806:0.2488:0.1499:0.1207	.	402	Q5VUY2	ADCL4_HUMAN	C	402	ENSP00000365395:S402C	ENSP00000365395:S402C	S	+	1	0	AADACL4	12649313	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	-0.425000	0.07017	-0.045000	0.13468	-0.256000	0.11100	AGT		0.438	AADACL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005328.1		NM_001013630		5	85	0	0	0	0.021553	0	5	85		
EIF4G3	8672	broad.mit.edu	37	1	21143902	21143902	+	Missense_Mutation	SNP	T	T	C			TCGA-CF-A3MH-01A-11D-A20D-08	TCGA-CF-A3MH-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8867b16f-cd05-41e9-b3ca-4c72a1ebeb70	8ad1181e-2e1d-40cb-a18d-9240b5ab1733	g.chr1:21143902T>C	ENST00000264211.8	-	28	4524	c.4330A>G	c.(4330-4332)Atc>Gtc	p.I1444V	EIF4G3_ENST00000602326.1_Missense_Mutation_p.I1450V|EIF4G3_ENST00000536266.1_Missense_Mutation_p.I1048V|EIF4G3_ENST00000374937.3_Missense_Mutation_p.I1450V|EIF4G3_ENST00000400422.1_Missense_Mutation_p.I1444V|EIF4G3_ENST00000374935.3_Missense_Mutation_p.I1164V|EIF4G3_ENST00000537738.1_Missense_Mutation_p.I934V	NM_003760.4	NP_003751.2	O43432	IF4G3_HUMAN	eukaryotic translation initiation factor 4 gamma, 3	1444	EIF4A-binding. {ECO:0000250}.|W2. {ECO:0000255|PROSITE- ProRule:PRU00695}.				cytokine-mediated signaling pathway (GO:0019221)|positive regulation of meiosis I (GO:0060903)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of translation (GO:0045727)|regulation of translational initiation (GO:0006446)|spermatogenesis (GO:0007283)|viral process (GO:0016032)	cytosol (GO:0005829)|eukaryotic translation initiation factor 4F complex (GO:0016281)	poly(A) RNA binding (GO:0044822)|RNA cap binding (GO:0000339)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)			endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(18)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(1)|urinary_tract(3)	70		all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256)		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|COAD - Colon adenocarcinoma(152;5.42e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000327)|GBM - Glioblastoma multiforme(114;0.000696)|Kidney(64;0.0018)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(64;0.0185)|READ - Rectum adenocarcinoma(331;0.124)|Lung(427;0.191)		CAGTCAAAGATCTGTTCATCA	0.428																																						uc001bec.2		NaN																	0				skin(1)	1						c.(4330-4332)ATC>GTC		eukaryotic translation initiation factor 4							112.0	109.0	110.0					1																	21143902		2203	4300	6503	SO:0001583	missense	8672				interspecies interaction between organisms|regulation of translational initiation|RNA metabolic process	eukaryotic translation initiation factor 4F complex	protein binding|RNA cap binding|translation initiation factor activity	g.chr1:21143902T>C	AF012072	CCDS214.1, CCDS55580.1, CCDS59192.1, CCDS72723.1	1p36.12	2008-02-05			ENSG00000075151	ENSG00000075151			3298	protein-coding gene	gene with protein product		603929				9418880	Standard	NM_001198801		Approved	eIF4GII	uc001bef.3	O43432	OTTHUMG00000002624	ENST00000264211.8:c.4330A>G	1.37:g.21143902T>C	ENSP00000264211:p.Ile1444Val					EIF4G3_uc010odi.1_Missense_Mutation_p.I1048V|EIF4G3_uc010odj.1_Missense_Mutation_p.I1443V|EIF4G3_uc009vpz.2_Missense_Mutation_p.I1164V|EIF4G3_uc001bed.2_Missense_Mutation_p.I1444V|EIF4G3_uc001bef.2_Missense_Mutation_p.I1480V|EIF4G3_uc001bee.2_Missense_Mutation_p.I1450V	p.I1444V	NM_003760	NP_003751	O43432	IF4G3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.023)|COAD - Colon adenocarcinoma(152;5.42e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000327)|GBM - Glioblastoma multiforme(114;0.000696)|Kidney(64;0.0018)|STAD - Stomach adenocarcinoma(196;0.00644)|KIRC - Kidney renal clear cell carcinoma(64;0.0185)|READ - Rectum adenocarcinoma(331;0.124)|Lung(427;0.191)	29	4586	-		all_lung(284;2.61e-06)|Lung NSC(340;2.81e-06)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00149)|Ovarian(437;0.00338)|Myeloproliferative disorder(586;0.0256)	1444			EIF4A-binding (By similarity).|W2.		B9EGQ7|Q15597|Q504Z1|Q5SWC3|Q8NEN1	Missense_Mutation	SNP	ENST00000264211.8	37	c.4330A>G	CCDS214.1	.	.	.	.	.	.	.	.	.	.	T	16.54	3.152484	0.57259	.	.	ENSG00000075151	ENST00000264211;ENST00000400415;ENST00000400422;ENST00000374935;ENST00000537738;ENST00000374937;ENST00000536266	T;T;T;T;T;T	0.09163	3.53;3.53;3.39;3.01;3.52;3.22	5.4	5.4	0.78164	eIF4-gamma/eIF5/eIF2-epsilon (1);Armadillo-type fold (1);MIF4-like, type 1/2/3 (1);	0.166984	0.51477	D	0.000087	T	0.22742	0.0549	L	0.41415	1.275	0.80722	D	1	D;B;P;D;D	0.65815	0.995;0.376;0.603;0.985;0.964	D;B;B;D;P	0.72338	0.977;0.175;0.421;0.952;0.764	T	0.03641	-1.1017	10	0.18276	T	0.48	-10.7947	15.4747	0.75468	0.0:0.0:0.0:1.0	.	1639;1164;1048;1450;1444	Q59GJ0;Q504Z1;F5H564;B9EGQ7;O43432	.;.;.;.;IF4G3_HUMAN	V	1444;1640;1444;1164;934;1450;1048	ENSP00000264211:I1444V;ENSP00000383274:I1444V;ENSP00000364071:I1164V;ENSP00000442010:I934V;ENSP00000364073:I1450V;ENSP00000444693:I1048V	ENSP00000264211:I1444V	I	-	1	0	EIF4G3	21016489	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	7.412000	0.80091	2.058000	0.61347	0.456000	0.33151	ATC		0.428	EIF4G3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000007467.3		NM_003760		45	43	0	0	0	0.139131	0	45	43		
ZFP69B	65243	broad.mit.edu	37	1	40928396	40928396	+	Missense_Mutation	SNP	G	G	C			TCGA-CF-A3MH-01A-11D-A20D-08	TCGA-CF-A3MH-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8867b16f-cd05-41e9-b3ca-4c72a1ebeb70	8ad1181e-2e1d-40cb-a18d-9240b5ab1733	g.chr1:40928396G>C	ENST00000411995.2	+	6	1115	c.740G>C	c.(739-741)aGa>aCa	p.R247T	RP1-228H13.5_ENST00000565390.1_RNA|ZFP69B_ENST00000361584.3_Missense_Mutation_p.R145T|ZFP69B_ENST00000484445.1_3'UTR	NM_023070.2	NP_075558.2	Q9UJL9	ZF69B_HUMAN	ZFP69 zinc finger protein B	247					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)										GGTCTTCCAAGAAAAAGAGAT	0.348																																						uc001cfn.1		NaN																	0				ovary(2)	2						c.(739-741)AGA>ACA		zinc finger protein 643							79.0	89.0	86.0					1																	40928396		2203	4300	6503	SO:0001583	missense	65243				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr1:40928396G>C	BC017498	CCDS452.1, CCDS452.2	1p34.2	2013-01-09	2012-11-27	2012-11-27	ENSG00000187801	ENSG00000187801		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	28053	protein-coding gene	gene with protein product			"""zinc finger protein 643"""	ZNF643			Standard	NM_023070		Approved	ZKSCAN23B, FLJ34293, ZSCAN54B	uc001cfn.2	Q9UJL9	OTTHUMG00000007302	ENST00000411995.2:c.740G>C	1.37:g.40928396G>C	ENSP00000399664:p.Arg247Thr					ZNF643_uc001cfl.1_Missense_Mutation_p.R145T|ZNF643_uc001cfm.1_Missense_Mutation_p.R113T	p.R247T	NM_023070	NP_075558	Q9UJL9	ZN643_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;5.25e-18)		5	1037	+	Ovarian(52;0.00769)|all_hematologic(146;0.0501)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0393)	247					Q5QPL4	Missense_Mutation	SNP	ENST00000411995.2	37	c.740G>C	CCDS452.2	.	.	.	.	.	.	.	.	.	.	.	5.683	0.310671	0.10733	.	.	ENSG00000187801	ENST00000431552;ENST00000411995;ENST00000361584	T;T	0.08984	3.5;3.03	3.14	2.22	0.28083	.	.	.	.	.	T	0.07908	0.0198	L	0.41573	1.285	0.09310	N	1	B	0.33777	0.425	B	0.36808	0.233	T	0.31641	-0.9936	9	0.56958	D	0.05	.	4.6241	0.12470	0.127:0.2272:0.6458:0.0	.	247	Q9UJL9	ZN643_HUMAN	T	178;247;145	ENSP00000399664:R247T;ENSP00000354547:R145T	ENSP00000354547:R145T	R	+	2	0	ZNF643	40700983	0.085000	0.21516	0.008000	0.14137	0.008000	0.06430	0.343000	0.19944	0.887000	0.36136	0.585000	0.79938	AGA		0.348	ZFP69B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019078.2		NM_023070		53	57	0	0	0	0.139131	0	53	57		
SARS	6301	broad.mit.edu	37	1	109777922	109777922	+	Missense_Mutation	SNP	C	C	T			TCGA-CF-A3MH-01A-11D-A20D-08	TCGA-CF-A3MH-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8867b16f-cd05-41e9-b3ca-4c72a1ebeb70	8ad1181e-2e1d-40cb-a18d-9240b5ab1733	g.chr1:109777922C>T	ENST00000234677.2	+	7	913	c.838C>T	c.(838-840)Cac>Tac	p.H280Y	SARS_ENST00000369923.4_Missense_Mutation_p.H280Y	NM_006513.3	NP_006504.2	P49591	SYSC_HUMAN	seryl-tRNA synthetase	280					gene expression (GO:0010467)|selenocysteinyl-tRNA(Sec) biosynthetic process (GO:0097056)|seryl-tRNA aminoacylation (GO:0006434)|translation (GO:0006412)|tRNA aminoacylation for protein translation (GO:0006418)|tRNA processing (GO:0008033)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|RNA binding (GO:0003723)|serine-tRNA ligase activity (GO:0004828)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)	17		all_epithelial(167;7.64e-05)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)		Colorectal(144;0.0301)|Lung(183;0.0677)|COAD - Colon adenocarcinoma(174;0.116)|Epithelial(280;0.233)	L-Serine(DB00133)	TGCTGCCCTGCACCGGGATGA	0.587																																						uc001dwu.1		NaN																	0				central_nervous_system(1)	1						c.(838-840)CAC>TAC		seryl-tRNA synthetase	L-Serine(DB00133)						104.0	97.0	99.0					1																	109777922		2203	4300	6503	SO:0001583	missense	6301				seryl-tRNA aminoacylation|tRNA processing	cytosol	ATP binding|protein binding|RNA binding|serine-tRNA ligase activity	g.chr1:109777922C>T	BC009390	CCDS795.1	1p13.3	2011-07-01			ENSG00000031698	ENSG00000031698	6.1.1.11	"""Aminoacyl tRNA synthetases / Class II"""	10537	protein-coding gene	gene with protein product	"""serine tRNA ligase 1, cytoplasmic"""	607529				9431993	Standard	NM_006513		Approved	SERS	uc001dwu.2	P49591	OTTHUMG00000011726	ENST00000234677.2:c.838C>T	1.37:g.109777922C>T	ENSP00000234677:p.His280Tyr					SARS_uc001dwt.1_Missense_Mutation_p.H280Y|SARS_uc001dwv.1_Missense_Mutation_p.H280Y|SARS_uc001dww.1_Missense_Mutation_p.H213Y|SARS_uc001dwx.1_Missense_Mutation_p.H232Y|SARS_uc009wfa.1_Missense_Mutation_p.H280Y|SARS_uc001dwy.1_Missense_Mutation_p.H105Y|SARS_uc001dwz.1_Missense_Mutation_p.H105Y	p.H280Y	NM_006513	NP_006504	P49591	SYSC_HUMAN		Colorectal(144;0.0301)|Lung(183;0.0677)|COAD - Colon adenocarcinoma(174;0.116)|Epithelial(280;0.233)	7	913	+		all_epithelial(167;7.64e-05)|all_lung(203;0.000321)|Lung NSC(277;0.000626)|Breast(1374;0.244)	280					B2R6Y9|Q5T5C8|Q9NSE3	Missense_Mutation	SNP	ENST00000234677.2	37	c.838C>T	CCDS795.1	.	.	.	.	.	.	.	.	.	.	c	24.7	4.563387	0.86335	.	.	ENSG00000031698	ENST00000234677;ENST00000369923	T;T	0.65916	-0.18;-0.18	5.56	4.64	0.57946	Aminoacyl-tRNA synthetase, class II (1);Aminoacyl-tRNA synthetase, class II (G/ H/ P/ S), conserved domain (1);	0.054282	0.85682	D	0.000000	T	0.69771	0.3148	M	0.64630	1.985	0.54753	D	0.999983	D;D;D;D	0.89917	1.0;1.0;0.998;1.0	D;D;D;D	0.85130	0.997;0.997;0.988;0.997	T	0.67639	-0.5619	10	0.38643	T	0.18	-22.6917	14.505	0.67746	0.0:0.9272:0.0:0.0728	.	280;280;280;280	Q0VGA5;Q53HA4;Q5T5C7;P49591	.;.;.;SYSC_HUMAN	Y	280	ENSP00000234677:H280Y;ENSP00000358939:H280Y	ENSP00000234677:H280Y	H	+	1	0	SARS	109579445	0.999000	0.42202	0.960000	0.40013	0.900000	0.52787	3.927000	0.56499	2.622000	0.88805	0.655000	0.94253	CAC		0.587	SARS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032394.2		NM_006513		51	79	0	0	0	0.139131	0	51	79		
LCE3D	84648	broad.mit.edu	37	1	152552263	152552263	+	Silent	SNP	G	G	A	rs139649941		TCGA-CF-A3MH-01A-11D-A20D-08	TCGA-CF-A3MH-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8867b16f-cd05-41e9-b3ca-4c72a1ebeb70	8ad1181e-2e1d-40cb-a18d-9240b5ab1733	g.chr1:152552263G>A	ENST00000368787.3	-	2	206	c.150C>T	c.(148-150)ggC>ggT	p.G50G		NM_032563.1	NP_115952.1	Q9BYE3	LCE3D_HUMAN	late cornified envelope 3D	50					keratinization (GO:0031424)					breast(1)|endometrium(1)|large_intestine(2)|lung(7)|pancreas(1)|skin(1)|stomach(2)	15	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.206)	UCEC - Uterine corpus endometrioid carcinoma (5;0.153)|KIRC - Kidney renal clear cell carcinoma(4;0.0323)|Kidney(5;0.0378)		GGAAGCAGCCGCCCTCGGAGC	0.672																																						uc001fab.2		NaN																	0					0						c.(148-150)GGC>GGT		late cornified envelope 3D							47.0	57.0	53.0					1																	152552263		2203	4296	6499	SO:0001819	synonymous_variant	84648				keratinization			g.chr1:152552263G>A	BI670519	CCDS1014.1	1q21	2008-02-05	2004-05-21	2004-10-15	ENSG00000163202	ENSG00000163202		"""Late cornified envelopes"""	16615	protein-coding gene	gene with protein product		612616	"""small proline rich-like (epidermal differentiation complex) 6B"""	SPRL6B, SPRL6A		11698679	Standard	NM_032563		Approved	LEP16	uc001fab.3	Q9BYE3	OTTHUMG00000012384	ENST00000368787.3:c.150C>T	1.37:g.152552263G>A							p.G50G	NM_032563	NP_115952	Q9BYE3	LCE3D_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)	UCEC - Uterine corpus endometrioid carcinoma (5;0.153)|KIRC - Kidney renal clear cell carcinoma(4;0.0323)|Kidney(5;0.0378)	2	207	-	Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		50					Q3MIL1	Silent	SNP	ENST00000368787.3	37	c.150C>T	CCDS1014.1																																																																																				0.672	LCE3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034504.1		NM_032563		9	67	0	0	0	0.047766	0	9	67		
TMCC2	9911	broad.mit.edu	37	1	205210891	205210891	+	Missense_Mutation	SNP	C	C	T			TCGA-CF-A3MH-01A-11D-A20D-08	TCGA-CF-A3MH-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8867b16f-cd05-41e9-b3ca-4c72a1ebeb70	8ad1181e-2e1d-40cb-a18d-9240b5ab1733	g.chr1:205210891C>T	ENST00000358024.3	+	2	855	c.466C>T	c.(466-468)Cgc>Tgc	p.R156C	TMCC2_ENST00000545499.1_Missense_Mutation_p.R78C|TMCC2_ENST00000495538.1_3'UTR	NM_014858.3	NP_055673.2	O75069	TMCC2_HUMAN	transmembrane and coiled-coil domain family 2	156						integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(5)|liver(2)|lung(3)|pancreas(1)|skin(1)|urinary_tract(1)	20	Breast(84;0.0871)		BRCA - Breast invasive adenocarcinoma(75;0.117)			GCAGCAGATCCGCTCCCGGCC	0.706																																						uc001hbz.1		NaN																	0				pancreas(1)	1						c.(466-468)CGC>TGC		transmembrane and coiled-coil domain family 2							22.0	22.0	22.0					1																	205210891		2201	4298	6499	SO:0001583	missense	9911					integral to membrane	protein binding	g.chr1:205210891C>T	AB001596	CCDS30984.1, CCDS55676.1, CCDS73010.1	1q32.1	2008-02-05	2005-07-13		ENSG00000133069	ENSG00000133069		"""Transmembrane and coiled-coil domain containing"""	24239	protein-coding gene	gene with protein product			"""transmembrane and coiled-coil domains 2"""			9455484	Standard	NM_014858		Approved	HUCEP11, FLJ38497	uc021pia.1	O75069	OTTHUMG00000037195	ENST00000358024.3:c.466C>T	1.37:g.205210891C>T	ENSP00000350718:p.Arg156Cys					TMCC2_uc010prf.1_Missense_Mutation_p.R78C	p.R156C	NM_014858	NP_055673	O75069	TMCC2_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.117)		3	910	+	Breast(84;0.0871)		156					A2RRH3|B7Z1P7|Q6ZN09	Missense_Mutation	SNP	ENST00000358024.3	37	c.466C>T	CCDS30984.1	.	.	.	.	.	.	.	.	.	.	C	19.71	3.878729	0.72294	.	.	ENSG00000133069	ENST00000358024;ENST00000545499	T;T	0.50277	0.75;0.82	4.94	4.94	0.65067	.	0.000000	0.64402	D	0.000015	T	0.56572	0.1994	L	0.36672	1.1	0.58432	D	0.999997	D	0.89917	1.0	P	0.58928	0.848	T	0.61549	-0.7040	10	0.87932	D	0	.	17.7578	0.88455	0.0:1.0:0.0:0.0	.	156	O75069	TMCC2_HUMAN	C	156;78	ENSP00000350718:R156C;ENSP00000437943:R78C	ENSP00000350718:R156C	R	+	1	0	TMCC2	203477514	1.000000	0.71417	1.000000	0.80357	0.935000	0.57460	4.696000	0.61774	2.271000	0.75665	0.462000	0.41574	CGC		0.706	TMCC2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000090383.1		NM_014858		7	18	0	0	0	0.058154	0	7	18		
NLRP3	114548	broad.mit.edu	37	1	247607294	247607294	+	Missense_Mutation	SNP	C	C	T			TCGA-CF-A3MH-01A-11D-A20D-08	TCGA-CF-A3MH-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8867b16f-cd05-41e9-b3ca-4c72a1ebeb70	8ad1181e-2e1d-40cb-a18d-9240b5ab1733	g.chr1:247607294C>T	ENST00000336119.3	+	7	3436	c.2690C>T	c.(2689-2691)aCg>aTg	p.T897M	NLRP3_ENST00000391827.2_Missense_Mutation_p.T840M|NLRP3_ENST00000391828.3_Missense_Mutation_p.T897M|NLRP3_ENST00000348069.2_Missense_Mutation_p.T783M|NLRP3_ENST00000366497.2_Missense_Mutation_p.T840M|NLRP3_ENST00000366496.2_Missense_Mutation_p.T840M	NM_001127462.2|NM_001243133.1|NM_004895.4	NP_001120934.1|NP_001230062.1|NP_004886.3	Q96P20	NALP3_HUMAN	NLR family, pyrin domain containing 3	897					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|cellular response to lipopolysaccharide (GO:0071222)|defense response (GO:0006952)|defense response to virus (GO:0051607)|detection of biotic stimulus (GO:0009595)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-1 beta production (GO:0032611)|interleukin-1 secretion (GO:0050701)|interleukin-18 production (GO:0032621)|negative regulation of acute inflammatory response (GO:0002674)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 beta secretion (GO:0050713)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|NLRP3 inflammasome complex assembly (GO:0044546)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein oligomerization (GO:0051259)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|NLRP3 inflammasome complex (GO:0072559)	ATP binding (GO:0005524)|peptidoglycan binding (GO:0042834)			NS(1)|breast(3)|endometrium(6)|kidney(1)|large_intestine(19)|lung(85)|ovary(9)|pancreas(2)|prostate(4)|skin(8)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	142	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	OV - Ovarian serous cystadenocarcinoma(106;0.0141)			TCTGGCCTTACGTCAGTCTGT	0.512																																						uc001icr.2		NaN																	0				lung(8)|skin(8)|ovary(7)|upper_aerodigestive_tract(1)|breast(1)|pancreas(1)	26						c.(2689-2691)ACG>ATG		NLR family, pyrin domain containing 3 isoform a							196.0	156.0	170.0					1																	247607294		2203	4300	6503	SO:0001583	missense	114548				detection of biotic stimulus|induction of apoptosis|inflammatory response|negative regulation of NF-kappaB import into nucleus|negative regulation of NF-kappaB transcription factor activity|positive regulation of interleukin-1 beta secretion|protein oligomerization|signal transduction	cytoplasm	ATP binding|peptidoglycan binding|protein binding	g.chr1:247607294C>T	AF054176	CCDS1632.1, CCDS1633.1, CCDS44346.1, CCDS44347.1	1q44	2014-09-17	2006-12-08	2006-12-08	ENSG00000162711	ENSG00000162711		"""Nucleotide-binding domain and leucine rich repeat containing"""	16400	protein-coding gene	gene with protein product	"""Cryopyrin"", ""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 3"""	606416	"""cold autoinflammatory syndrome 1"""	C1orf7, CIAS1		10741953	Standard	NM_183395		Approved	AGTAVPRL, AII, AVP, FCAS, FCU, NALP3, PYPAF1, MWS, CLR1.1	uc001icr.3	Q96P20	OTTHUMG00000040647	ENST00000336119.3:c.2690C>T	1.37:g.247607294C>T	ENSP00000337383:p.Thr897Met					NLRP3_uc001ics.2_Missense_Mutation_p.T840M|NLRP3_uc001icu.2_Missense_Mutation_p.T897M|NLRP3_uc001icw.2_Missense_Mutation_p.T840M|NLRP3_uc001icv.2_Missense_Mutation_p.T783M|NLRP3_uc010pyw.1_Missense_Mutation_p.T875M	p.T897M	NM_001079821	NP_001073289	Q96P20	NALP3_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0141)		9	2828	+	all_cancers(71;9.66e-05)|all_epithelial(71;1.85e-05)|Breast(184;0.0226)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)	all_cancers(173;0.0172)	897			LRR 6.		B2RC97|B7ZKS9|B7ZKT2|B7ZKT3|O75434|Q17RS2|Q59H68|Q5JQS8|Q5JQS9|Q6TG35|Q8TCW0|Q8TEU9|Q8WXH9	Missense_Mutation	SNP	ENST00000336119.3	37	c.2690C>T	CCDS1632.1	.	.	.	.	.	.	.	.	.	.	C	10.57	1.388265	0.25118	.	.	ENSG00000162711	ENST00000391828;ENST00000366497;ENST00000336119;ENST00000348069;ENST00000366496;ENST00000391827	T;T;T;T;T;T	0.58210	0.35;0.35;0.35;0.35;0.35;0.35	4.06	4.06	0.47325	.	0.141547	0.32987	N	0.005410	T	0.78735	0.4330	H	0.95402	3.665	0.09310	N	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.85130	0.997;0.971;0.954;0.996;0.985	T	0.72327	-0.4327	10	0.87932	D	0	.	12.049	0.53495	0.0:1.0:0.0:0.0	.	877;840;783;840;897	B7ZKS9;Q96P20-4;Q96P20-2;Q96P20-5;Q96P20	.;.;.;.;NALP3_HUMAN	M	897;840;897;783;840;840	ENSP00000375704:T897M;ENSP00000355453:T840M;ENSP00000337383:T897M;ENSP00000294752:T783M;ENSP00000355452:T840M;ENSP00000375703:T840M	ENSP00000337383:T897M	T	+	2	0	NLRP3	245673917	0.054000	0.20591	0.048000	0.18961	0.035000	0.12851	2.026000	0.41069	2.548000	0.85928	0.549000	0.68633	ACG		0.512	NLRP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097740.1		NM_004895		19	30	0	0	0	0.043863	0	19	30		
ZFAND4	93550	broad.mit.edu	37	10	46121709	46121709	+	Missense_Mutation	SNP	G	G	A			TCGA-CF-A3MH-01A-11D-A20D-08	TCGA-CF-A3MH-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8867b16f-cd05-41e9-b3ca-4c72a1ebeb70	8ad1181e-2e1d-40cb-a18d-9240b5ab1733	g.chr10:46121709G>A	ENST00000344646.5	-	7	1777	c.1562C>T	c.(1561-1563)tCt>tTt	p.S521F	ZFAND4_ENST00000374366.3_Missense_Mutation_p.S447F|ZFAND4_ENST00000374370.1_5'UTR|ZFAND4_ENST00000374371.2_Intron	NM_001128324.2|NM_174890.2	NP_001121796.1|NP_777550.2	Q86XD8	ZFAN4_HUMAN	zinc finger, AN1-type domain 4	521							zinc ion binding (GO:0008270)										AGTAGTCCTAGAGAAAGAAGA	0.393																																						uc001jcp.3		NaN																	0					0						c.(1561-1563)TCT>TTT		AN1, ubiquitin-like, homolog							74.0	78.0	77.0					10																	46121709		2203	4300	6503	SO:0001583	missense	93550						zinc ion binding	g.chr10:46121709G>A	AF311324	CCDS7214.1, CCDS60520.1	10q11.22	2013-01-09	2011-11-10	2011-11-10	ENSG00000172671	ENSG00000172671		"""Zinc fingers, AN1-type domain containing"""	23504	protein-coding gene	gene with protein product			"""AN1, ubiquitin-like, homolog (Xenopus laevis)"""	ANUBL1			Standard	XM_005271837		Approved	FLJ40185	uc001jcp.4	Q86XD8	OTTHUMG00000018085	ENST00000344646.5:c.1562C>T	10.37:g.46121709G>A	ENSP00000339484:p.Ser521Phe					ANUBL1_uc001jcl.3_Missense_Mutation_p.S41F|ANUBL1_uc001jcm.3_Missense_Mutation_p.S521F|ANUBL1_uc009xmu.2_Missense_Mutation_p.S447F|ANUBL1_uc001jcn.3_Missense_Mutation_p.S447F|ANUBL1_uc001jco.3_Intron	p.S521F	NM_001128324	NP_001121796	Q86XD8	ANUB1_HUMAN			7	1804	-			521					A8K8V4|B2RAX2|Q5VVY5	Missense_Mutation	SNP	ENST00000344646.5	37	c.1562C>T	CCDS7214.1	.	.	.	.	.	.	.	.	.	.	G	6.916	0.538620	0.13250	.	.	ENSG00000172671	ENST00000344646;ENST00000374366;ENST00000374370	T;T	0.29397	1.57;1.57	5.27	2.22	0.28083	.	1.842940	0.02948	N	0.141303	T	0.33847	0.0877	M	0.68952	2.095	0.43613	D	0.995982	P	0.41947	0.766	B	0.34038	0.174	T	0.21655	-1.0239	10	0.62326	D	0.03	-23.2693	9.8471	0.41034	0.0:0.2843:0.5687:0.147	.	521	Q86XD8	ANUB1_HUMAN	F	521;447;403	ENSP00000339484:S521F;ENSP00000363486:S447F	ENSP00000339484:S521F	S	-	2	0	ANUBL1	45441715	1.000000	0.71417	0.861000	0.33841	0.034000	0.12701	3.118000	0.50414	0.168000	0.19655	0.561000	0.74099	TCT		0.393	ZFAND4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047790.1		NM_174890		5	69	0	0	0	0.021553	0	5	69		
OR6Q1	219952	broad.mit.edu	37	11	57798438	57798438	+	Missense_Mutation	SNP	C	C	T			TCGA-CF-A3MH-01A-11D-A20D-08	TCGA-CF-A3MH-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8867b16f-cd05-41e9-b3ca-4c72a1ebeb70	8ad1181e-2e1d-40cb-a18d-9240b5ab1733	g.chr11:57798438C>T	ENST00000302622.3	+	1	37	c.14C>T	c.(13-15)aCc>aTc	p.T5I	OR9Q1_ENST00000335397.3_Intron	NM_001005186.2	NP_001005186.2	Q8NGQ2	OR6Q1_HUMAN	olfactory receptor, family 6, subfamily Q, member 1	5						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			biliary_tract(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		Breast(21;0.0707)|all_epithelial(135;0.142)				CAACCATATACCAAAAACTGG	0.458																																						uc010rjz.1		NaN																	0				kidney(1)	1						c.(13-15)ACC>ATC		olfactory receptor, family 6, subfamily Q,							151.0	144.0	147.0					11																	57798438		2201	4296	6497	SO:0001583	missense	219952				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:57798438C>T	AB065737	CCDS31541.1	11q12.1	2012-08-09			ENSG00000172381	ENSG00000172381		"""GPCR / Class A : Olfactory receptors"""	15302	protein-coding gene	gene with protein product							Standard	NM_001005186		Approved		uc010rjz.2	Q8NGQ2	OTTHUMG00000168831	ENST00000302622.3:c.14C>T	11.37:g.57798438C>T	ENSP00000307734:p.Thr5Ile					OR9Q1_uc001nmj.2_Intron	p.T5I	NM_001005186	NP_001005186	Q8NGQ2	OR6Q1_HUMAN			1	14	+		Breast(21;0.0707)|all_epithelial(135;0.142)	5			Extracellular (Potential).		B9EKW1|Q6IFH1|Q96R34	Missense_Mutation	SNP	ENST00000302622.3	37	c.14C>T	CCDS31541.1	.	.	.	.	.	.	.	.	.	.	C	14.12	2.441042	0.43326	.	.	ENSG00000172381	ENST00000302622	T	0.00488	7.04	5.32	2.15	0.27550	.	0.485095	0.15362	N	0.266375	T	0.00328	0.0010	L	0.35793	1.09	0.09310	N	1	B	0.21688	0.059	B	0.26310	0.068	T	0.42015	-0.9476	10	0.37606	T	0.19	.	4.5412	0.12058	0.2672:0.5253:0.1302:0.0774	.	5	Q8NGQ2	OR6Q1_HUMAN	I	5	ENSP00000307734:T5I	ENSP00000307734:T5I	T	+	2	0	OR6Q1	57555014	0.000000	0.05858	0.007000	0.13788	0.346000	0.29079	-0.075000	0.11431	1.226000	0.43582	0.643000	0.83706	ACC		0.458	OR6Q1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401257.1		NM_001005186		8	205	0	0	0	0.047766	0	8	205		
WNK1	65125	broad.mit.edu	37	12	1017767	1017767	+	Missense_Mutation	SNP	A	A	G	rs144574284	byFrequency	TCGA-CF-A3MH-01A-11D-A20D-08	TCGA-CF-A3MH-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8867b16f-cd05-41e9-b3ca-4c72a1ebeb70	8ad1181e-2e1d-40cb-a18d-9240b5ab1733	g.chr12:1017767A>G	ENST00000315939.6	+	28	7601	c.6958A>G	c.(6958-6960)Atg>Gtg	p.M2320V	WNK1_ENST00000340908.4_Missense_Mutation_p.M1913V|WNK1_ENST00000535572.1_Missense_Mutation_p.M2072V|WNK1_ENST00000530271.2_Missense_Mutation_p.M2818V|WNK1_ENST00000537687.1_Missense_Mutation_p.M2580V	NM_018979.3	NP_061852.3	Q9H4A3	WNK1_HUMAN	WNK lysine deficient protein kinase 1	2320					intracellular signal transduction (GO:0035556)|ion transport (GO:0006811)|negative regulation of pancreatic juice secretion (GO:0090188)|negative regulation of phosphatase activity (GO:0010923)|neuron development (GO:0048666)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of systemic arterial blood pressure (GO:0003084)|protein phosphorylation (GO:0006468)|regulation of cellular process (GO:0050794)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|chloride channel inhibitor activity (GO:0019869)|phosphatase binding (GO:0019902)|protein kinase inhibitor activity (GO:0004860)|protein serine/threonine kinase activity (GO:0004674)			breast(7)|central_nervous_system(1)|endometrium(3)|kidney(6)|large_intestine(15)|lung(43)|ovary(6)|prostate(3)|skin(7)|stomach(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	104	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)			CACCAAGTCTATGTGCCCCCC	0.592													A|||	3	0.000599042	0.0	0.0	5008	,	,		16118	0.002		0.001	False		,,,				2504	0.0				Colon(19;451 567 6672 12618 28860)	uc001qio.3		NaN																	0				stomach(6)|breast(6)|ovary(5)|lung(4)|large_intestine(1)|central_nervous_system(1)	23						c.(6958-6960)ATG>GTG		WNK lysine deficient protein kinase 1							94.0	80.0	85.0					12																	1017767		2203	4300	6503	SO:0001583	missense	65125				intracellular protein kinase cascade|ion transport|neuron development	cytoplasm	ATP binding|protein binding|protein kinase inhibitor activity|protein serine/threonine kinase activity	g.chr12:1017767A>G	AJ296290	CCDS8506.1, CCDS53731.1, CCDS73419.1	12p13.3	2014-09-17	2005-01-19	2005-01-21	ENSG00000060237	ENSG00000060237			14540	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 167"""	605232	"""protein kinase, lysine deficient 1"", ""hereditary sensory neuropathy, type II"""	PRKWNK1, HSN2			Standard	NM_001184985		Approved	HSAN2, PPP1R167	uc031qfk.1	Q9H4A3	OTTHUMG00000090321	ENST00000315939.6:c.6958A>G	12.37:g.1017767A>G	ENSP00000313059:p.Met2320Val					WNK1_uc001qip.3_Missense_Mutation_p.M2072V|WNK1_uc001qir.3_Missense_Mutation_p.M1493V	p.M2320V	NM_018979	NP_061852	Q9H4A3	WNK1_HUMAN	Epithelial(1;1.74e-08)|all cancers(1;7.04e-08)|OV - Ovarian serous cystadenocarcinoma(31;0.000423)|BRCA - Breast invasive adenocarcinoma(9;0.0149)|Colorectal(1;0.0197)		28	7465	+	all_cancers(10;0.00611)|all_epithelial(11;0.00825)|all_lung(10;0.0331)|Ovarian(42;0.0512)|Lung NSC(10;0.0632)		2320					A1L4B0|C5HTZ5|C5HTZ6|C5HTZ7|H6WZW3|O15052|P54963|Q4VBX9|Q6IFS5|Q86WL5|Q8N673|Q96CZ6|Q9P1S9	Missense_Mutation	SNP	ENST00000315939.6	37	c.6958A>G	CCDS8506.1	2	9.157509157509158E-4	0	0.0	0	0.0	1	0.0017482517482517483	1	0.0013192612137203166	A	11.51	1.659068	0.29515	.	.	ENSG00000060237	ENST00000535572;ENST00000315939;ENST00000537687;ENST00000252477;ENST00000530271;ENST00000537501;ENST00000340908	T;T;T;T;T	0.70516	-0.49;-0.44;-0.45;-0.49;0.81	5.46	4.3	0.51218	.	0.088645	0.49916	D	0.000137	T	0.59824	0.2222	L	0.34521	1.04	0.37981	D	0.933598	B;B;B	0.33171	0.264;0.4;0.278	B;B;B	0.33960	0.054;0.173;0.084	T	0.61515	-0.7047	10	0.37606	T	0.19	-11.1231	12.6545	0.56780	0.8617:0.1383:0.0:0.0	.	2073;2072;2320	Q9H4A3-2;F5GWT4;Q9H4A3	.;.;WNK1_HUMAN	V	2072;2320;2580;1493;2818;262;1913	ENSP00000441972:M2072V;ENSP00000313059:M2320V;ENSP00000444465:M2580V;ENSP00000433548:M2818V;ENSP00000341292:M1913V	ENSP00000252477:M1493V	M	+	1	0	WNK1	888028	0.980000	0.34600	0.975000	0.42487	0.959000	0.62525	2.626000	0.46460	1.066000	0.40716	-0.435000	0.05868	ATG		0.592	WNK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206683.1		NM_018979		64	40	0	0	0	0.139131	0	64	40		
DCP1B	196513	broad.mit.edu	37	12	2062350	2062350	+	Missense_Mutation	SNP	C	C	G	rs570843986	byFrequency	TCGA-CF-A3MH-01A-11D-A20D-08	TCGA-CF-A3MH-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8867b16f-cd05-41e9-b3ca-4c72a1ebeb70	8ad1181e-2e1d-40cb-a18d-9240b5ab1733	g.chr12:2062350C>G	ENST00000280665.6	-	7	835	c.756G>C	c.(754-756)caG>caC	p.Q252H	DCP1B_ENST00000397173.4_Missense_Mutation_p.Q150H|DCP1B_ENST00000541700.1_5'UTR|DCP1B_ENST00000540622.1_Missense_Mutation_p.Q126H	NM_152640.3	NP_689853.3	Q8IZD4	DCP1B_HUMAN	decapping mRNA 1B	252	Poly-Gln.				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)	hydrolase activity (GO:0016787)	p.Q252H(8)		NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(10)|skin(1)	24			OV - Ovarian serous cystadenocarcinoma(31;0.00193)			gctgctgctgctgGTGGAGAG	0.552													C|||	2	0.000399361	0.0	0.0	5008	,	,		14619	0.002		0.0	False		,,,				2504	0.0					uc001qjx.1		NaN																	8	Substitution - Missense(8)		endometrium(5)|lung(2)|large_intestine(1)	skin(1)	1						c.(754-756)CAG>CAC		decapping enzyme Dcp1b							35.0	42.0	40.0					12																	2062350		2203	4300	6503	SO:0001583	missense	196513				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytosol|nucleus	hydrolase activity|protein binding	g.chr12:2062350C>G	AY146652	CCDS31727.1	12p13.33	2013-05-02	2013-05-02		ENSG00000151065	ENSG00000151065			24451	protein-coding gene	gene with protein product		609843	"""DCP1 decapping enzyme homolog B (S. cerevisiae)"""			12417715, 15067023	Standard	NM_152640		Approved	FLJ31638	uc001qjx.1	Q8IZD4	OTTHUMG00000168113	ENST00000280665.6:c.756G>C	12.37:g.2062350C>G	ENSP00000280665:p.Gln252His					DCP1B_uc010sdy.1_Missense_Mutation_p.Q150H	p.Q252H	NM_152640	NP_689853	Q8IZD4	DCP1B_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00193)		7	836	-			252			Poly-Gln.		B4DRD1|Q86XH9|Q96BP8|Q96MZ8	Missense_Mutation	SNP	ENST00000280665.6	37	c.756G>C	CCDS31727.1	.	.	.	.	.	.	.	.	.	.	C	0.027	-1.361713	0.01235	.	.	ENSG00000151065	ENST00000280665;ENST00000397173;ENST00000540622	T;T;T	0.19250	2.19;2.17;2.16	4.04	-8.09	0.01090	.	1.568620	0.03045	N	0.153823	T	0.13072	0.0317	N	0.22421	0.69	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.15694	-1.0428	10	0.17369	T	0.5	.	12.662	0.56820	0.0881:0.1213:0.7178:0.0728	.	150;252	B4DRD1;Q8IZD4	.;DCP1B_HUMAN	H	252;150;126	ENSP00000280665:Q252H;ENSP00000380358:Q150H;ENSP00000444374:Q126H	ENSP00000280665:Q252H	Q	-	3	2	DCP1B	1932611	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	-1.268000	0.02836	-2.090000	0.00859	-2.175000	0.00321	CAG		0.552	DCP1B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398244.1		NM_152640		3	70	0	0	0	0.150653	0	3	70		
GALNT8	26290	broad.mit.edu	37	12	4835915	4835915	+	Silent	SNP	C	C	G			TCGA-CF-A3MH-01A-11D-A20D-08	TCGA-CF-A3MH-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8867b16f-cd05-41e9-b3ca-4c72a1ebeb70	8ad1181e-2e1d-40cb-a18d-9240b5ab1733	g.chr12:4835915C>G	ENST00000252318.2	+	2	766	c.429C>G	c.(427-429)ctC>ctG	p.L143L	RP11-234B24.6_ENST00000544741.2_3'UTR	NM_017417.1	NP_059113.1	Q9NY28	GALT8_HUMAN	polypeptide N-acetylgalactosaminyltransferase 8	143					cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(13)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1)	35						CCCAGGACCTCTTCCGGAAGT	0.557																																					Colon(108;631 1558 7270 20097 39846)	uc001qne.1		NaN																	0				ovary(2)|pancreas(1)|skin(1)	4						c.(427-429)CTC>CTG		polypeptide N-acetylgalactosaminyltransferase 8							73.0	68.0	70.0					12																	4835915		2203	4300	6503	SO:0001819	synonymous_variant	26290					Golgi membrane|integral to membrane	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr12:4835915C>G	AJ271385	CCDS8533.1	12p13.32	2014-03-13	2014-03-13		ENSG00000130035	ENSG00000130035	2.4.1.41	"""Glycosyltransferase family 2 domain containing"""	4130	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 8"""	606250	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 8 (GalNAc-T8)"""			10767557	Standard	NM_017417		Approved	GALNAC-T8	uc001qne.1	Q9NY28	OTTHUMG00000166188	ENST00000252318.2:c.429C>G	12.37:g.4835915C>G							p.L143L	NM_017417	NP_059113	Q9NY28	GALT8_HUMAN			2	521	+			143			Lumenal (Potential).		B2RU02	Silent	SNP	ENST00000252318.2	37	c.429C>G	CCDS8533.1																																																																																				0.557	GALNT8-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000388277.2		NM_017417		85	44	0	0	0	0.139131	0	85	44		
SLC2A13	114134	broad.mit.edu	37	12	40499377	40499377	+	Silent	SNP	G	G	A			TCGA-CF-A3MH-01A-11D-A20D-08	TCGA-CF-A3MH-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8867b16f-cd05-41e9-b3ca-4c72a1ebeb70	8ad1181e-2e1d-40cb-a18d-9240b5ab1733	g.chr12:40499377G>A	ENST00000280871.4	-	1	284	c.234C>T	c.(232-234)ccC>ccT	p.P78P	SLC2A13_ENST00000380858.1_Silent_p.P78P	NM_052885.3	NP_443117.3	Q96QE2	MYCT_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 13	78					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	substrate-specific transmembrane transporter activity (GO:0022891)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	29		Lung NSC(34;0.105)|all_lung(34;0.123)				ACACGAAGGCGGGGGTCTCGT	0.726										HNSCC(50;0.14)																												uc010skm.1		NaN																	0				ovary(1)	1						c.(232-234)CCC>CCT		solute carrier family 2 (facilitated glucose							8.0	9.0	8.0					12																	40499377		2133	4217	6350	SO:0001819	synonymous_variant	114134					integral to membrane|plasma membrane	myo-inositol:hydrogen symporter activity	g.chr12:40499377G>A	AJ315644	CCDS8736.2	12q12	2013-05-22			ENSG00000151229	ENSG00000151229		"""Solute carriers"""	15956	protein-coding gene	gene with protein product	"""H(+)-myo-inositol symporter"""	611036				11500374	Standard	NM_052885		Approved	HMIT	uc010skm.2	Q96QE2	OTTHUMG00000059743	ENST00000280871.4:c.234C>T	12.37:g.40499377G>A		HNSCC(50;0.14)				SLC2A13_uc001rmf.2_Silent_p.P78P	p.P78P	NM_052885	NP_443117	Q96QE2	MYCT_HUMAN			1	285	-		Lung NSC(34;0.105)|all_lung(34;0.123)	78			Helical; Name=1; (Potential).		Q17S07	Silent	SNP	ENST00000280871.4	37	c.234C>T	CCDS8736.2																																																																																				0.726	SLC2A13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000132849.2				6	7	0	0	0	0.058154	0	6	7		
GIT2	9815	broad.mit.edu	37	12	110391020	110391020	+	Silent	SNP	C	C	T			TCGA-CF-A3MH-01A-11D-A20D-08	TCGA-CF-A3MH-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8867b16f-cd05-41e9-b3ca-4c72a1ebeb70	8ad1181e-2e1d-40cb-a18d-9240b5ab1733	g.chr12:110391020C>T	ENST00000355312.3	-	13	1118	c.1119G>A	c.(1117-1119)ctG>ctA	p.L373L	GIT2_ENST00000551209.1_Silent_p.L372L|GIT2_ENST00000354574.4_Silent_p.L375L|GIT2_ENST00000361006.5_Silent_p.L373L|GIT2_ENST00000547815.1_Silent_p.L373L|GIT2_ENST00000553118.1_Silent_p.L373L|TCHP_ENST00000550780.1_Intron|GIT2_ENST00000360185.4_Silent_p.L373L|GIT2_ENST00000457474.2_Silent_p.L375L|GIT2_ENST00000338373.5_Silent_p.L373L|GIT2_ENST00000356259.4_Silent_p.L373L|GIT2_ENST00000320063.9_Silent_p.L373L|GIT2_ENST00000343646.5_Intron	NM_057169.3	NP_476510.1	Q14161	GIT2_HUMAN	G protein-coupled receptor kinase interacting ArfGAP 2	373					behavioral response to pain (GO:0048266)|regulation of ARF GTPase activity (GO:0032312)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	focal adhesion (GO:0005925)|nucleoplasm (GO:0005654)	ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(8)|skin(4)	27						TGATGGTTTTCAGTATGAGCT	0.413																																						uc001tps.2		NaN																	0				central_nervous_system(1)	1						c.(1117-1119)CTG>CTA		G protein-coupled receptor kinase interacting							220.0	193.0	202.0					12																	110391020		2203	4300	6503	SO:0001819	synonymous_variant	9815				regulation of ARF GTPase activity|regulation of G-protein coupled receptor protein signaling pathway	nucleoplasm	ARF GTPase activator activity|protein binding|zinc ion binding	g.chr12:110391020C>T	AF124491	CCDS9138.1, CCDS9139.1, CCDS44968.1, CCDS44969.1, CCDS55884.1	12q24.1	2013-01-10	2008-09-05			ENSG00000139436		"""ADP-ribosylation factor GTPase activating proteins"", ""Ankyrin repeat domain containing"""	4273	protein-coding gene	gene with protein product		608564	"""G protein-coupled receptor kinase interactor 2"""			9826657, 10896954	Standard	NM_139201		Approved	KIAA0148	uc001tps.2	Q14161	OTTHUMG00000169313	ENST00000355312.3:c.1119G>A	12.37:g.110391020C>T						TCHP_uc001tpo.1_RNA|GIT2_uc001tpr.2_5'UTR|GIT2_uc001tpq.2_Silent_p.L373L|GIT2_uc001tpv.2_Silent_p.L375L|GIT2_uc001tpu.2_Silent_p.L373L|GIT2_uc001tpt.2_Silent_p.L373L|GIT2_uc010sxu.1_Silent_p.L311L|GIT2_uc001tpw.2_Silent_p.L373L|GIT2_uc010sxv.1_Silent_p.L373L	p.L373L	NM_057169	NP_476510	Q14161	GIT2_HUMAN			13	1284	-			373					Q86U59|Q96CI2|Q9BV91|Q9Y5V2	Silent	SNP	ENST00000355312.3	37	c.1119G>A	CCDS9138.1																																																																																				0.413	GIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403407.1		NM_057169		48	134	0	0	0	0.139131	0	48	134		
POU4F1	5457	broad.mit.edu	37	13	79175754	79175754	+	Silent	SNP	G	G	T	rs549899918		TCGA-CF-A3MH-01A-11D-A20D-08	TCGA-CF-A3MH-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8867b16f-cd05-41e9-b3ca-4c72a1ebeb70	8ad1181e-2e1d-40cb-a18d-9240b5ab1733	g.chr13:79175754G>T	ENST00000377208.5	-	2	1267	c.1056C>A	c.(1054-1056)ggC>ggA	p.G352G	RNF219-AS1_ENST00000444769.3_RNA|RNF219-AS1_ENST00000607220.1_RNA|RNF219-AS1_ENST00000606429.1_RNA|RNF219-AS1_ENST00000606376.1_RNA|RNF219-AS1_ENST00000560584.2_RNA|RNF219-AS1_ENST00000606124.1_RNA|RP11-52L5.6_ENST00000607269.1_RNA|RNF219-AS1_ENST00000560209.2_RNA|RNF219-AS1_ENST00000430549.2_RNA|RNF219-AS1_ENST00000607205.1_RNA|RNF219-AS1_ENST00000607860.1_RNA	NM_006237.3	NP_006228.3	Q01851	PO4F1_HUMAN	POU class 4 homeobox 1	352					axonogenesis (GO:0007409)|cell migration in hindbrain (GO:0021535)|central nervous system neuron differentiation (GO:0021953)|habenula development (GO:0021986)|innervation (GO:0060384)|mesoderm development (GO:0007498)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron fate specification (GO:0048665)|peripheral nervous system neuron development (GO:0048935)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proprioception involved in equilibrioception (GO:0051355)|regulation of neurogenesis (GO:0050767)|sensory system development (GO:0048880)|suckling behavior (GO:0001967)|synapse assembly (GO:0007416)|transcription from RNA polymerase II promoter (GO:0006366)|trigeminal nerve development (GO:0021559)|ventricular compact myocardium morphogenesis (GO:0003223)	neuron projection (GO:0043005)|nuclear chromatin (GO:0000790)	RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)	p.G352G(1)		central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(5)|ovary(1)	16		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.0848)		GBM - Glioblastoma multiforme(99;0.129)		TCTTCTCGCCGCCGTTGAAGA	0.652																																					Melanoma(109;347 2166 14574 42843)|Ovarian(81;1394 1854 22417 48351)	uc001vkv.2		NaN																	1	Substitution - coding silent(1)		endometrium(1)	ovary(1)	1						c.(1054-1056)GGC>GGA		POU domain, class 4, transcription factor 1							29.0	33.0	32.0					13																	79175754		2203	4300	6503	SO:0001819	synonymous_variant	5457				axonogenesis|regulation of transcription from RNA polymerase II promoter|synapse assembly	nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr13:79175754G>T	X64624	CCDS31996.1	13q31.1	2011-06-20	2007-07-13		ENSG00000152192	ENSG00000152192		"""Homeoboxes / POU class"""	9218	protein-coding gene	gene with protein product		601632	"""POU domain class 4, transcription factor 1"""	BRN3A		1357630	Standard	NM_006237		Approved	RDC-1	uc001vkv.3	Q01851	OTTHUMG00000017119	ENST00000377208.5:c.1056C>A	13.37:g.79175754G>T						uc001vku.1_Intron	p.G352G	NM_006237	NP_006228	Q01851	PO4F1_HUMAN		GBM - Glioblastoma multiforme(99;0.129)	2	1290	-		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.0848)	352					Q14986|Q15318|Q5T227	Silent	SNP	ENST00000377208.5	37	c.1056C>A	CCDS31996.1																																																																																				0.652	POU4F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045360.3				7	24	1	0	0.000157383	0.038147	0.00016443	7	24		
ZFYVE19	84936	broad.mit.edu	37	15	41105570	41105570	+	Silent	SNP	T	T	C			TCGA-CF-A3MH-01A-11D-A20D-08	TCGA-CF-A3MH-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8867b16f-cd05-41e9-b3ca-4c72a1ebeb70	8ad1181e-2e1d-40cb-a18d-9240b5ab1733	g.chr15:41105570T>C	ENST00000355341.4	+	8	1566	c.1065T>C	c.(1063-1065)gaT>gaC	p.D355D	ZFYVE19_ENST00000299173.10_Silent_p.D287D|ZFYVE19_ENST00000336455.5_Silent_p.D345D|ZFYVE19_ENST00000570108.1_Silent_p.D332D|ZFYVE19_ENST00000564258.1_Silent_p.D180D	NM_001077268.1	NP_001070736.1	Q96K21	ANCHR_HUMAN	zinc finger, FYVE domain containing 19	355					abscission (GO:0009838)|cell division (GO:0051301)|cytokinesis checkpoint (GO:0031565)|negative regulation of cytokinesis (GO:0032466)	centrosome (GO:0005813)|cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|midbody (GO:0030496)	phosphatidylinositol-3-phosphate binding (GO:0032266)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	9		all_cancers(109;3.31e-18)|all_epithelial(112;2.33e-15)|Lung NSC(122;5.34e-11)|all_lung(180;1.33e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)		GBM - Glioblastoma multiforme(113;2.76e-05)|COAD - Colon adenocarcinoma(120;0.151)|BRCA - Breast invasive adenocarcinoma(123;0.164)		CAGACAGTGATGACGACGAGG	0.587																																						uc001zmt.1		NaN																	0					0						c.(1063-1065)GAT>GAC		zinc finger, FYVE domain containing 19							52.0	58.0	56.0					15																	41105570		2083	4216	6299	SO:0001819	synonymous_variant	84936						zinc ion binding	g.chr15:41105570T>C	AK027746	CCDS42025.1, CCDS58353.1, CCDS58354.1, CCDS58355.1	15q14	2008-05-02				ENSG00000166140		"""Zinc fingers, FYVE domain containing"""	20758	protein-coding gene	gene with protein product							Standard	NM_001077268		Approved	FLJ14840	uc031qrk.1	Q96K21		ENST00000355341.4:c.1065T>C	15.37:g.41105570T>C						ZFYVE19_uc001zmu.1_Silent_p.D287D|ZFYVE19_uc001zmv.1_Silent_p.D180D|ZFYVE19_uc001zmw.1_Silent_p.D180D|ZFYVE19_uc001zmx.1_Silent_p.D180D|ZFYVE19_uc010bcc.1_Silent_p.D180D	p.D355D	NM_001077268	NP_001070736	Q96K21	ZFY19_HUMAN		GBM - Glioblastoma multiforme(113;2.76e-05)|COAD - Colon adenocarcinoma(120;0.151)|BRCA - Breast invasive adenocarcinoma(123;0.164)	8	1579	+		all_cancers(109;3.31e-18)|all_epithelial(112;2.33e-15)|Lung NSC(122;5.34e-11)|all_lung(180;1.33e-09)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.0946)	355			Potential.		B3KVB2|C9JNF4|H3BUF9|Q86WC2|Q8WU96	Silent	SNP	ENST00000355341.4	37	c.1065T>C	CCDS42025.1																																																																																				0.587	ZFYVE19-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000418996.1		NM_032850		9	23	0	0	0	0.09319	0	9	23		
ANXA2	302	broad.mit.edu	37	15	60641322	60641322	+	Missense_Mutation	SNP	C	C	A			TCGA-CF-A3MH-01A-11D-A20D-08	TCGA-CF-A3MH-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8867b16f-cd05-41e9-b3ca-4c72a1ebeb70	8ad1181e-2e1d-40cb-a18d-9240b5ab1733	g.chr15:60641322C>A	ENST00000396024.3	-	13	1071	c.912G>T	c.(910-912)agG>agT	p.R304S	ANXA2_ENST00000451270.2_Missense_Mutation_p.R304S|ANXA2_ENST00000332680.4_Missense_Mutation_p.R322S|ANXA2_ENST00000421017.2_Missense_Mutation_p.R304S	NM_001136015.2	NP_001129487.1	P07355	ANXA2_HUMAN	annexin A2	304					angiogenesis (GO:0001525)|body fluid secretion (GO:0007589)|cellular response to acid chemical (GO:0071229)|collagen fibril organization (GO:0030199)|fibrinolysis (GO:0042730)|membrane budding (GO:0006900)|membrane raft assembly (GO:0001765)|negative regulation of catalytic activity (GO:0043086)|osteoclast development (GO:0036035)|positive regulation of binding (GO:0051099)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of vesicle fusion (GO:0031340)|protein heterotetramerization (GO:0051290)|protein targeting to plasma membrane (GO:0072661)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell surface (GO:0009986)|early endosome (GO:0005769)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of plasma membrane (GO:0019897)|late endosome membrane (GO:0031902)|lipid particle (GO:0005811)|lysosomal membrane (GO:0005765)|macropinosome (GO:0044354)|membrane (GO:0016020)|midbody (GO:0030496)|myelin sheath adaxonal region (GO:0035749)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|ruffle (GO:0001726)|sarcolemma (GO:0042383)|Schmidt-Lanterman incisure (GO:0043220)|vesicle (GO:0031982)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|calcium-dependent protein binding (GO:0048306)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phospholipase A2 inhibitor activity (GO:0019834)|poly(A) RNA binding (GO:0044822)|S100 protein binding (GO:0044548)			kidney(1)|large_intestine(2)|lung(3)|ovary(2)|prostate(1)	9					Tenecteplase(DB00031)	TGAATTCAGACCTAATTTTCA	0.502																																						uc002agn.2		NaN																	0				ovary(1)	1						c.(910-912)AGG>AGT		annexin A2 isoform 2	Alteplase(DB00009)|Anistreplase(DB00029)|Tenecteplase(DB00031)						82.0	71.0	75.0					15																	60641322		2203	4298	6501	SO:0001583	missense	302				angiogenesis|positive regulation of vesicle fusion|skeletal system development	basement membrane|melanosome|midbody|soluble fraction	calcium ion binding|calcium-dependent phospholipid binding|cytoskeletal protein binding|phospholipase inhibitor activity	g.chr15:60641322C>A	D00017	CCDS10175.1, CCDS32256.1	15q22.2	2012-10-02			ENSG00000182718	ENSG00000182718		"""Annexins"""	537	protein-coding gene	gene with protein product	"""annexin II"""	151740		ANX2, ANX2L4, CAL1H, LPC2D		7961821	Standard	NM_001136015		Approved	LIP2	uc002agm.3	P07355	OTTHUMG00000132763	ENST00000396024.3:c.912G>T	15.37:g.60641322C>A	ENSP00000379342:p.Arg304Ser					ANXA2_uc002agk.2_Missense_Mutation_p.R304S|ANXA2_uc002agl.2_Missense_Mutation_p.R304S|ANXA2_uc002agm.2_Missense_Mutation_p.R322S|ANXA2_uc010uhd.1_RNA	p.R304S	NM_001136015	NP_001129487	P07355	ANXA2_HUMAN			13	1072	-			304			Annexin 4.		Q567R4|Q6N0B3|Q8TBV2|Q96DD5|Q9UDH8	Missense_Mutation	SNP	ENST00000396024.3	37	c.912G>T	CCDS10175.1	.	.	.	.	.	.	.	.	.	.	C	20.5	4.007115	0.75046	.	.	ENSG00000182718	ENST00000396024;ENST00000332680;ENST00000421017;ENST00000451270	T;T;T;T	0.05447	3.44;3.44;3.44;3.44	5.61	-0.276	0.12902	Annexin repeat, conserved site (1);	0.129823	0.52532	U	0.000075	T	0.07279	0.0184	L	0.57130	1.785	0.49915	D	0.999838	B;B	0.33288	0.153;0.406	B;B	0.31495	0.031;0.131	T	0.22243	-1.0222	10	0.87932	D	0	.	10.4733	0.44650	0.0:0.5028:0.0:0.4972	.	322;304	P07355-2;P07355	.;ANXA2_HUMAN	S	304;322;304;304	ENSP00000379342:R304S;ENSP00000346032:R322S;ENSP00000411352:R304S;ENSP00000387545:R304S	ENSP00000346032:R322S	R	-	3	2	ANXA2	58428614	0.537000	0.26386	0.995000	0.50966	0.987000	0.75469	-0.296000	0.08287	0.040000	0.15660	-0.126000	0.14955	AGG		0.502	ANXA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256135.1		NM_001002857		14	57	1	0	3.27435e-08	0.11911	3.4728e-08	14	57		
C15orf39	56905	broad.mit.edu	37	15	75501097	75501097	+	Missense_Mutation	SNP	G	G	A			TCGA-CF-A3MH-01A-11D-A20D-08	TCGA-CF-A3MH-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8867b16f-cd05-41e9-b3ca-4c72a1ebeb70	8ad1181e-2e1d-40cb-a18d-9240b5ab1733	g.chr15:75501097G>A	ENST00000360639.2	+	2	3028	c.2708G>A	c.(2707-2709)cGc>cAc	p.R903H	C15orf39_ENST00000394987.4_Missense_Mutation_p.R903H|C15orf39_ENST00000567617.1_Missense_Mutation_p.R903H|RP11-69H7.3_ENST00000563568.1_RNA			Q6ZRI6	CO039_HUMAN	chromosome 15 open reading frame 39	903						cytoplasm (GO:0005737)				autonomic_ganglia(1)|breast(2)|endometrium(3)|large_intestine(4)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	16						CTGGCGCTGCGCCAGCTGCCG	0.697																																						uc002azp.3		NaN																	0					0						c.(2707-2709)CGC>CAC		hypothetical protein LOC56905							25.0	24.0	24.0					15																	75501097		2197	4293	6490	SO:0001583	missense	56905							g.chr15:75501097G>A	AK128205	CCDS10276.1	15q23	2013-03-14	2005-10-24		ENSG00000167173	ENSG00000167173			24497	protein-coding gene	gene with protein product			"""chromosome 15 open reading frame 38~Name Same As HGNC:28782"""				Standard	NM_015492		Approved	DKFZP434H132, FLJ46337	uc002azq.4	Q6ZRI6	OTTHUMG00000142820	ENST00000360639.2:c.2708G>A	15.37:g.75501097G>A	ENSP00000353854:p.Arg903His					C15orf39_uc002azq.3_Missense_Mutation_p.R903H|C15orf39_uc002azr.3_Missense_Mutation_p.R301H	p.R903H	NM_015492	NP_056307	Q6ZRI6	CO039_HUMAN			2	3028	+			903					B3KWI3|C9J888|Q71JB1|Q7L3S0|Q8N3F2|Q96FB6|Q9NTU5	Missense_Mutation	SNP	ENST00000360639.2	37	c.2708G>A	CCDS10276.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.989610	0.74589	.	.	ENSG00000167173	ENST00000360639;ENST00000394987;ENST00000446981	T;T	0.23147	1.92;1.92	5.29	4.37	0.52481	.	0.088921	0.56097	D	0.000032	T	0.40909	0.1136	L	0.60455	1.87	0.42190	D	0.991725	D;D	0.89917	1.0;1.0	D;D	0.75020	0.982;0.985	T	0.31447	-0.9943	10	0.72032	D	0.01	-25.6474	6.1059	0.20073	0.2449:0.0:0.7551:0.0	.	465;903	Q2VPA3;Q6ZRI6	.;CO039_HUMAN	H	903;903;301	ENSP00000353854:R903H;ENSP00000378438:R903H	ENSP00000353854:R903H	R	+	2	0	C15orf39	73288150	1.000000	0.71417	1.000000	0.80357	0.440000	0.31957	6.939000	0.75911	2.480000	0.83734	0.561000	0.74099	CGC		0.697	C15orf39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286410.1		NM_015492		22	19	0	0	0	0.144211	0	22	19		
ADAMTSL3	57188	broad.mit.edu	37	15	84651669	84651669	+	Missense_Mutation	SNP	G	G	C			TCGA-CF-A3MH-01A-11D-A20D-08	TCGA-CF-A3MH-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8867b16f-cd05-41e9-b3ca-4c72a1ebeb70	8ad1181e-2e1d-40cb-a18d-9240b5ab1733	g.chr15:84651669G>C	ENST00000286744.5	+	21	3513	c.3289G>C	c.(3289-3291)Gat>Cat	p.D1097H	ADAMTSL3_ENST00000567476.1_Missense_Mutation_p.D1097H	NM_207517.2	NP_997400.2	P82987	ATL3_HUMAN	ADAMTS-like 3	1097						proteinaceous extracellular matrix (GO:0005578)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			NS(2)|breast(7)|central_nervous_system(6)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(24)|lung(51)|ovary(7)|pancreas(2)|prostate(2)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(4)	130			BRCA - Breast invasive adenocarcinoma(143;0.211)			AGCCCAGTTTGATGAGCTGAT	0.473																																						uc002bjz.3		NaN																	0				ovary(6)|central_nervous_system(5)|lung(5)|large_intestine(4)|breast(3)|skin(2)|kidney(1)|pancreas(1)	27						c.(3289-3291)GAT>CAT		ADAMTS-like 3 precursor							81.0	77.0	79.0					15																	84651669		2203	4300	6503	SO:0001583	missense	57188					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding	g.chr15:84651669G>C	AF237652	CCDS10326.1, CCDS73773.1	15q25.2	2013-01-29			ENSG00000156218	ENSG00000156218		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	14633	protein-coding gene	gene with protein product		609199				9628581, 10574462	Standard	NM_207517		Approved	KIAA1233, punctin-2	uc002bjz.4	P82987	OTTHUMG00000147363	ENST00000286744.5:c.3289G>C	15.37:g.84651669G>C	ENSP00000286744:p.Asp1097His					ADAMTSL3_uc010bmt.1_Missense_Mutation_p.D1097H|ADAMTSL3_uc010bmu.1_Missense_Mutation_p.D1097H	p.D1097H	NM_207517	NP_997400	P82987	ATL3_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.211)		21	3513	+			1097					A1A566|A1A567|Q9ULI7	Missense_Mutation	SNP	ENST00000286744.5	37	c.3289G>C	CCDS10326.1	.	.	.	.	.	.	.	.	.	.	G	18.96	3.733775	0.69189	.	.	ENSG00000156218	ENST00000286744	T	0.70282	-0.47	5.43	5.43	0.79202	.	1.826010	0.03231	N	0.178952	D	0.84238	0.5428	L	0.57536	1.79	0.40547	D	0.981082	P;P	0.43169	0.725;0.8	P;B	0.55999	0.789;0.365	T	0.69837	-0.5037	10	0.87932	D	0	.	19.2456	0.93901	0.0:0.0:1.0:0.0	.	1097;1097	P82987-2;P82987	.;ATL3_HUMAN	H	1097	ENSP00000286744:D1097H	ENSP00000286744:D1097H	D	+	1	0	ADAMTSL3	82442673	1.000000	0.71417	0.992000	0.48379	0.844000	0.47949	5.872000	0.69636	2.529000	0.85273	0.557000	0.71058	GAT		0.473	ADAMTSL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000304007.2		NM_207517		31	64	0	0	0	0.183431	0	31	64		
PITPNC1	26207	broad.mit.edu	37	17	65671602	65671602	+	Missense_Mutation	SNP	G	G	A			TCGA-CF-A3MH-01A-11D-A20D-08	TCGA-CF-A3MH-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8867b16f-cd05-41e9-b3ca-4c72a1ebeb70	8ad1181e-2e1d-40cb-a18d-9240b5ab1733	g.chr17:65671602G>A	ENST00000581322.1	+	8	626	c.626G>A	c.(625-627)cGa>cAa	p.R209Q	PITPNC1_ENST00000299954.9_Missense_Mutation_p.R209Q|PITPNC1_ENST00000580974.1_Missense_Mutation_p.R209Q|PITPNC1_ENST00000335257.6_Missense_Mutation_p.R209Q			Q9UKF7	PITC1_HUMAN	phosphatidylinositol transfer protein, cytoplasmic 1	209					phospholipid transport (GO:0015914)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	lipid binding (GO:0008289)|phosphatidylinositol transporter activity (GO:0008526)			breast(1)|kidney(2)|large_intestine(3)|liver(2)|lung(4)|prostate(2)|skin(3)	17	all_cancers(12;3.03e-10)		BRCA - Breast invasive adenocarcinoma(8;2.08e-08)|Colorectal(3;0.198)			TAGGTGGTCCGAGACATTCTG	0.373																																						uc002jgc.2		NaN																	0				skin(1)	1						c.(625-627)CGA>CAA		phosphatidylinositol transfer protein,							203.0	183.0	189.0					17																	65671602		1881	4115	5996	SO:0001583	missense	26207				signal transduction	cytoplasm	lipid binding|phosphatidylinositol transporter activity|protein binding	g.chr17:65671602G>A	AF171102	CCDS58587.1, CCDS58588.1	17q24.3	2008-02-05							21045	protein-coding gene	gene with protein product		605134				10531358	Standard	NM_012417		Approved	RDGBB1, RDGBB, RDGB-BETA	uc002jgc.4	Q9UKF7		ENST00000581322.1:c.626G>A	17.37:g.65671602G>A	ENSP00000464006:p.Arg209Gln					PITPNC1_uc002jgb.2_Missense_Mutation_p.R209Q	p.R209Q	NM_012417	NP_036549	Q9UKF7	PITC1_HUMAN	BRCA - Breast invasive adenocarcinoma(8;2.08e-08)|Colorectal(3;0.198)		8	973	+	all_cancers(12;3.03e-10)		209					A8K473|J3QR20|Q96I07	Missense_Mutation	SNP	ENST00000581322.1	37	c.626G>A	CCDS58588.1	.	.	.	.	.	.	.	.	.	.	G	19.43	3.826588	0.71143	.	.	ENSG00000154217	ENST00000335257;ENST00000299954	T;T	0.52057	0.68;0.68	5.77	5.77	0.91146	START-like domain (1);	0.053235	0.64402	D	0.000001	T	0.62998	0.2474	M	0.77616	2.38	0.80722	D	1	P;D	0.59357	0.956;0.985	P;P	0.50490	0.642;0.63	T	0.67321	-0.5700	10	0.66056	D	0.02	-7.1494	19.9933	0.97376	0.0:0.0:1.0:0.0	.	209;209	Q9UKF7;Q9UKF7-2	PITC1_HUMAN;.	Q	209	ENSP00000335618:R209Q;ENSP00000299954:R209Q	ENSP00000299954:R209Q	R	+	2	0	PITPNC1	63102064	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	9.710000	0.98732	2.744000	0.94065	0.542000	0.68232	CGA		0.373	PITPNC1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000447194.1		NM_012417		15	96	0	0	0	0.175082	0	15	96		
DOT1L	84444	broad.mit.edu	37	19	2220125	2220125	+	Missense_Mutation	SNP	G	G	A	rs542823835		TCGA-CF-A3MH-01A-11D-A20D-08	TCGA-CF-A3MH-10A-01D-A20D-08			G	A	G	G		Valid	Somatic	Phase_I	WXS	Fluidigm			Illumina GAIIx	8867b16f-cd05-41e9-b3ca-4c72a1ebeb70	8ad1181e-2e1d-40cb-a18d-9240b5ab1733	g.chr19:2220125G>A	ENST00000398665.3	+	23	2746	c.2710G>A	c.(2710-2712)Gtg>Atg	p.V904M		NM_032482.2	NP_115871.1	Q8TEK3	DOT1L_HUMAN	DOT1-like histone H3K79 methyltransferase	904					histone lysine methylation (GO:0034968)|regulation of JAK-STAT cascade (GO:0046425)|regulation of transcription regulatory region DNA binding (GO:2000677)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription factor binding (GO:0008134)			NS(1)|breast(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(3)|lung(14)|ovary(2)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(9)	42		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)		CCCCAGTCCCGTGCTGCAGCC	0.617																																						uc002lvb.3		NaN																	0				pancreas(2)|upper_aerodigestive_tract(1)|lung(1)	4						c.(2710-2712)GTG>ATG		DOT1-like, histone H3 methyltransferase							46.0	53.0	51.0					19																	2220125		1993	4160	6153	SO:0001583	missense	84444					nucleus	DNA binding|histone-lysine N-methyltransferase activity|protein binding	g.chr19:2220125G>A	AF509504	CCDS42460.1	19p13.3	2013-05-21	2013-05-21		ENSG00000104885	ENSG00000104885	2.1.1.43	"""Chromatin-modifying enzymes / K-methyltransferases"""	24948	protein-coding gene	gene with protein product	"""histone methyltransferase DOT1L"""	607375	"""DOT1-like, histone H3 methyltransferase (S. cerevisiae)"""			11347906, 12123582	Standard	NM_032482		Approved	KIAA1814, DOT1, KMT4	uc002lvb.4	Q8TEK3	OTTHUMG00000150431	ENST00000398665.3:c.2710G>A	19.37:g.2220125G>A	ENSP00000381657:p.Val904Met					DOT1L_uc002lvc.1_Missense_Mutation_p.V198M|DOT1L_uc002lve.1_Missense_Mutation_p.V198M	p.V904M	NM_032482	NP_115871	Q8TEK3	DOT1L_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)	23	2746	+		Hepatocellular(1079;0.137)	904					O60379|Q96JL1	Missense_Mutation	SNP	ENST00000398665.3	37	c.2710G>A	CCDS42460.1	.	.	.	.	.	.	.	.	.	.	G	15.39	2.820859	0.50633	.	.	ENSG00000104885	ENST00000398665;ENST00000221482	T	0.32023	1.47	4.62	4.62	0.57501	.	0.211827	0.39985	N	0.001204	T	0.49660	0.1570	L	0.58101	1.795	0.34551	D	0.711274	D;D	0.69078	0.997;0.997	P;P	0.62298	0.828;0.9	T	0.65496	-0.6154	10	0.87932	D	0	-8.0797	16.4679	0.84090	0.0:0.0:1.0:0.0	.	904;904	Q8TEK3;Q8TEK3-2	DOT1L_HUMAN;.	M	904	ENSP00000381657:V904M	ENSP00000221482:V904M	V	+	1	0	DOT1L	2171125	0.999000	0.42202	0.457000	0.27056	0.294000	0.27393	6.963000	0.76055	2.122000	0.65172	0.462000	0.41574	GTG		0.617	DOT1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318066.1		NM_032482		5	75	0	0	0	0.02938	0	5	75		
MUC16	94025	broad.mit.edu	37	19	9090831	9090831	+	Silent	SNP	A	A	G			TCGA-CF-A3MH-01A-11D-A20D-08	TCGA-CF-A3MH-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8867b16f-cd05-41e9-b3ca-4c72a1ebeb70	8ad1181e-2e1d-40cb-a18d-9240b5ab1733	g.chr19:9090831A>G	ENST00000397910.4	-	1	1187	c.984T>C	c.(982-984)ccT>ccC	p.P328P		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	328	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TCATGGAAAAAGGGATAGCTG	0.522																																						uc002mkp.2		NaN																	0				lung(30)|ovary(15)|breast(8)|large_intestine(1)|skin(1)|prostate(1)|pancreas(1)	57						c.(982-984)CCT>CCC		mucin 16							96.0	95.0	96.0					19																	9090831		2041	4195	6236	SO:0001819	synonymous_variant	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9090831A>G	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.984T>C	19.37:g.9090831A>G							p.P328P	NM_024690	NP_078966	Q8WXI7	MUC16_HUMAN			1	1188	-			328			Thr-rich.|Extracellular (Potential).		Q6ZQW5|Q96RK2	Silent	SNP	ENST00000397910.4	37	c.984T>C	CCDS54212.1																																																																																				0.522	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1		NM_024690		3	86	0	0	0	0.115264	0	3	86		
CILP2	148113	broad.mit.edu	37	19	19655933	19655933	+	Missense_Mutation	SNP	G	G	A			TCGA-CF-A3MH-01A-11D-A20D-08	TCGA-CF-A3MH-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8867b16f-cd05-41e9-b3ca-4c72a1ebeb70	8ad1181e-2e1d-40cb-a18d-9240b5ab1733	g.chr19:19655933G>A	ENST00000291495.5	+	8	2664	c.2579G>A	c.(2578-2580)cGc>cAc	p.R860H	CILP2_ENST00000586018.1_Missense_Mutation_p.R866H	NM_153221.2	NP_694953.2	Q8IUL8	CILP2_HUMAN	cartilage intermediate layer protein 2	860						extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)				NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(17)|ovary(2)|prostate(2)|skin(1)|urinary_tract(1)	32						AACGGCTTCCGCATCAACCTC	0.701																																						uc002nmv.3		NaN																	0				ovary(1)	1						c.(2578-2580)CGC>CAC		cartilage intermediate layer protein 2							24.0	25.0	25.0					19																	19655933		2102	4093	6195	SO:0001583	missense	148113					proteinaceous extracellular matrix	carbohydrate binding|carboxypeptidase activity	g.chr19:19655933G>A	AF542080	CCDS12405.1	19p13.11	2013-01-14				ENSG00000160161		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	24213	protein-coding gene	gene with protein product		612419				12477932	Standard	NM_153221		Approved	MGC45771	uc002nmv.4	Q8IUL8		ENST00000291495.5:c.2579G>A	19.37:g.19655933G>A	ENSP00000291495:p.Arg860His					CILP2_uc002nmw.3_Missense_Mutation_p.R866H	p.R860H	NM_153221	NP_694953	Q8IUL8	CILP2_HUMAN			8	2664	+			860					Q6NV88|Q8N4A6|Q8WV21	Missense_Mutation	SNP	ENST00000291495.5	37	c.2579G>A	CCDS12405.1	.	.	.	.	.	.	.	.	.	.	G	18.43	3.623146	0.66901	.	.	ENSG00000160161	ENST00000291495	T	0.10005	2.92	5.2	1.9	0.25705	.	0.264391	0.35013	N	0.003507	T	0.19446	0.0467	L	0.53249	1.67	0.33599	D	0.602097	D;D	0.71674	0.998;0.996	P;P	0.60117	0.869;0.869	T	0.16276	-1.0408	10	0.54805	T	0.06	-23.0578	7.2872	0.26346	0.3536:0.0:0.6464:0.0	.	860;860	B2RAJ0;Q8IUL8	.;CILP2_HUMAN	H	860	ENSP00000291495:R860H	ENSP00000291495:R860H	R	+	2	0	CILP2	19516933	0.006000	0.16342	0.969000	0.41365	0.976000	0.68499	0.194000	0.17135	0.221000	0.20879	0.555000	0.69702	CGC		0.701	CILP2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000459738.3		NM_153221		4	76	0	0	0	0.150653	0	4	76		
ZNF737	100129842	broad.mit.edu	37	19	20728097	20728097	+	Silent	SNP	C	C	T			TCGA-CF-A3MH-01A-11D-A20D-08	TCGA-CF-A3MH-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8867b16f-cd05-41e9-b3ca-4c72a1ebeb70	8ad1181e-2e1d-40cb-a18d-9240b5ab1733	g.chr19:20728097C>T	ENST00000427401.4	-	4	1006	c.912G>A	c.(910-912)aaG>aaA	p.K304K		NM_001159293.1	NP_001152765.1	O75373	ZN737_HUMAN	zinc finger protein 737	304					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)|kidney(1)|lung(7)|ovary(1)|stomach(1)|urinary_tract(1)	13						TATGAATTATCTTATGCGCAG	0.408																																						uc002npa.2		NaN																	0				ovary(1)	1						c.(910-912)AAG>AAA		zinc finger protein 737							49.0	48.0	48.0					19																	20728097		692	1591	2283	SO:0001819	synonymous_variant	100129842				regulation of transcription, DNA-dependent	intracellular	nucleic acid binding|zinc ion binding	g.chr19:20728097C>T	BC015765	CCDS54238.1	19p12	2013-01-08						"""Zinc fingers, C2H2-type"", ""-"""	32468	protein-coding gene	gene with protein product		603984					Standard	NM_001159293		Approved	ZNF102	uc002npa.3	O75373		ENST00000427401.4:c.912G>A	19.37:g.20728097C>T							p.K304K	NM_001159293	NP_001152765	C9JHM3	C9JHM3_HUMAN			4	1092	-			304					C9JHM3	Silent	SNP	ENST00000427401.4	37	c.912G>A	CCDS54238.1																																																																																				0.408	ZNF737-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447844.2		NM_145289		30	44	0	0	0	0.153744	0	30	44		
ZNF681	148213	broad.mit.edu	37	19	23927314	23927314	+	Silent	SNP	G	G	A			TCGA-CF-A3MH-01A-11D-A20D-08	TCGA-CF-A3MH-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8867b16f-cd05-41e9-b3ca-4c72a1ebeb70	8ad1181e-2e1d-40cb-a18d-9240b5ab1733	g.chr19:23927314G>A	ENST00000402377.3	-	4	1179	c.1038C>T	c.(1036-1038)gcC>gcT	p.A346A	ZNF681_ENST00000395385.3_Silent_p.A277A	NM_138286.2	NP_612143.2	Q96N22	ZN681_HUMAN	zinc finger protein 681	346					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)			central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(10)|prostate(1)|skin(1)|urinary_tract(3)	21		all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206)				ACTGGTTAAAGGCTTTGCCAC	0.433																																						uc002nrk.3		NaN																	0					0						c.(1036-1038)GCC>GCT		zinc finger protein 681							88.0	91.0	90.0					19																	23927314		2203	4300	6503	SO:0001819	synonymous_variant	148213				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:23927314G>A	AK056088	CCDS12414.2	19p12	2013-01-08			ENSG00000196172	ENSG00000196172		"""Zinc fingers, C2H2-type"", ""-"""	26457	protein-coding gene	gene with protein product	"""hypothetical protein FLJ31526"""						Standard	NM_138286		Approved	FLJ31526	uc002nrk.4	Q96N22	OTTHUMG00000150831	ENST00000402377.3:c.1038C>T	19.37:g.23927314G>A						ZNF681_uc002nrl.3_Silent_p.A277A|ZNF681_uc002nrj.3_Silent_p.A277A	p.A346A	NM_138286	NP_612143	Q96N22	ZN681_HUMAN			4	1180	-		all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206)	346			C2H2-type 7.		B3KVF7	Silent	SNP	ENST00000402377.3	37	c.1038C>T	CCDS12414.2																																																																																				0.433	ZNF681-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320248.2		NM_138286		5	158	0	0	0	0.047766	0	5	158		
ATP4A	495	broad.mit.edu	37	19	36050775	36050775	+	Missense_Mutation	SNP	G	G	A	rs199790968		TCGA-CF-A3MH-01A-11D-A20D-08	TCGA-CF-A3MH-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8867b16f-cd05-41e9-b3ca-4c72a1ebeb70	8ad1181e-2e1d-40cb-a18d-9240b5ab1733	g.chr19:36050775G>A	ENST00000262623.3	-	7	1016	c.988C>T	c.(988-990)Cgg>Tgg	p.R330W		NM_000704.2	NP_000695.2	P20648	ATP4A_HUMAN	ATPase, H+/K+ exchanging, alpha polypeptide	330					ATP biosynthetic process (GO:0006754)|ATP hydrolysis coupled proton transport (GO:0015991)|ion transmembrane transport (GO:0034220)|pH reduction (GO:0045851)|regulation of proton transport (GO:0010155)|response to drug (GO:0042493)|transmembrane transport (GO:0055085)|transport (GO:0006810)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|hydrogen:potassium-exchanging ATPase activity (GO:0008900)|magnesium ion binding (GO:0000287)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(26)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	53	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)		Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)	ACCATGGCCCGCAGGAAGGTG	0.577																																						uc002oal.1		NaN																	0				ovary(1)	1						c.(988-990)CGG>TGG		hydrogen/potassium-exchanging ATPase 4A	Esomeprazole(DB00736)|Lansoprazole(DB00448)|Omeprazole(DB00338)|Pantoprazole(DB00213)|Rabeprazole(DB01129)|Trifluoperazine(DB00831)						86.0	70.0	75.0					19																	36050775		2203	4300	6503	SO:0001583	missense	495				ATP biosynthetic process|ATP hydrolysis coupled proton transport	integral to plasma membrane	ATP binding|hydrogen:potassium-exchanging ATPase activity|magnesium ion binding	g.chr19:36050775G>A		CCDS12467.1	19q13.1	2010-04-20			ENSG00000105675	ENSG00000105675	3.6.3.10	"""ATPases / P-type"""	819	protein-coding gene	gene with protein product	"""gastric H,K-ATPase alpha subunit"", ""H(+)-K(+)-ATPase alpha subunit"", ""proton pump"""	137216				1330887	Standard	NM_000704		Approved	ATP6A	uc002oal.1	P20648	OTTHUMG00000048106	ENST00000262623.3:c.988C>T	19.37:g.36050775G>A	ENSP00000262623:p.Arg330Trp					ATP4A_uc010eee.1_5'Flank	p.R330W	NM_000704	NP_000695	P20648	ATP4A_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.0724)		7	1017	-	all_lung(56;1.05e-07)|Lung NSC(56;1.63e-07)|Esophageal squamous(110;0.162)		330			Lumenal (Potential).		O00738	Missense_Mutation	SNP	ENST00000262623.3	37	c.988C>T	CCDS12467.1	.	.	.	.	.	.	.	.	.	.	G	18.63	3.665201	0.67700	.	.	ENSG00000105675	ENST00000262623	D	0.89050	-2.46	3.83	2.74	0.32292	ATPase, P-type, ATPase-associated domain (1);	0.181592	0.34223	N	0.004155	D	0.89234	0.6657	M	0.63843	1.955	0.39595	D	0.969646	D	0.54207	0.965	P	0.52267	0.694	D	0.88908	0.3357	10	0.87932	D	0	.	8.6196	0.33853	0.0:0.0:0.5834:0.4166	.	330	P20648	ATP4A_HUMAN	W	330	ENSP00000262623:R330W	ENSP00000262623:R330W	R	-	1	2	ATP4A	40742615	0.039000	0.19947	1.000000	0.80357	0.998000	0.95712	0.649000	0.24843	0.903000	0.36546	0.561000	0.74099	CGG		0.577	ATP4A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109470.2		NM_000704		27	27	0	0	0	0.099896	0	27	27		
CATSPERG	57828	broad.mit.edu	37	19	38847487	38847487	+	Missense_Mutation	SNP	T	T	C			TCGA-CF-A3MH-01A-11D-A20D-08	TCGA-CF-A3MH-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8867b16f-cd05-41e9-b3ca-4c72a1ebeb70	8ad1181e-2e1d-40cb-a18d-9240b5ab1733	g.chr19:38847487T>C	ENST00000409235.3	+	11	1416	c.1301T>C	c.(1300-1302)gTc>gCc	p.V434A	CATSPERG_ENST00000410018.1_Intron|CATSPERG_ENST00000215069.4_Missense_Mutation_p.V427A	NM_021185.4	NP_067008.3	Q6ZRH7	CTSRG_HUMAN	catsper channel auxiliary subunit gamma	434					cell differentiation (GO:0030154)|multicellular organism reproduction (GO:0032504)|multicellular organismal development (GO:0007275)|single fertilization (GO:0007338)|sperm-egg recognition (GO:0035036)|spermatogenesis (GO:0007283)	CatSper complex (GO:0036128)|plasma membrane (GO:0005886)|sperm principal piece (GO:0097228)				breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(13)|ovary(1)|pancreas(2)|prostate(6)|skin(3)|stomach(1)|urinary_tract(2)	40						TTCCAGGTGGTCAGCTACAAC	0.527																																						uc002oih.3		NaN																	0				ovary(1)|skin(1)	2						c.(1300-1302)GTC>GCC		cation channel, sperm-associated, gamma							183.0	159.0	167.0					19																	38847487		2203	4300	6503	SO:0001583	missense	57828				cell differentiation|multicellular organismal development|spermatogenesis	integral to membrane		g.chr19:38847487T>C	AK128220	CCDS12514.2	19q13.1	2014-05-13	2012-02-22	2009-07-17	ENSG00000099338	ENSG00000099338			25243	protein-coding gene	gene with protein product		613452	"""chromosome 19 open reading frame 15"", ""cation channel, sperm-associated, gamma"""	C19orf15		19516020	Standard	NM_021185		Approved	DKFZp434A1022, FLJ46353	uc002oih.4	Q6ZRH7	OTTHUMG00000153223	ENST00000409235.3:c.1301T>C	19.37:g.38847487T>C	ENSP00000386962:p.Val434Ala					CATSPERG_uc002oig.3_Intron|CATSPERG_uc002oif.3_Missense_Mutation_p.V74A|CATSPERG_uc010efw.2_RNA	p.V434A	NM_021185	NP_067008	Q6ZRH7	CTSRG_HUMAN			11	1388	+			434			Extracellular (Potential).		A6NEG6|Q659E1	Missense_Mutation	SNP	ENST00000409235.3	37	c.1301T>C	CCDS12514.2	.	.	.	.	.	.	.	.	.	.	T	15.09	2.730130	0.48939	.	.	ENSG00000099338	ENST00000409235;ENST00000409410;ENST00000215069	T;T;T	0.37058	1.22;1.22;1.22	4.1	3.09	0.35607	.	0.464737	0.18391	N	0.142667	T	0.37046	0.0989	M	0.69823	2.125	0.22081	N	0.999377	P	0.46142	0.873	B	0.43225	0.412	T	0.33292	-0.9874	10	0.72032	D	0.01	-40.3243	6.3137	0.21178	0.0:0.1105:0.0:0.8895	.	434	Q6ZRH7	CTSRG_HUMAN	A	434;434;427	ENSP00000386962:V434A;ENSP00000386950:V434A;ENSP00000215069:V427A	ENSP00000215069:V427A	V	+	2	0	CATSPERG	43539327	0.835000	0.29415	0.454000	0.27019	0.009000	0.06853	1.750000	0.38329	0.934000	0.37316	0.459000	0.35465	GTC		0.527	CATSPERG-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000330204.1		NM_021185		74	99	0	0	0	0.139131	0	74	99		
CYP2B6	1555	broad.mit.edu	37	19	41518645	41518645	+	Missense_Mutation	SNP	G	G	T	rs193922918		TCGA-CF-A3MH-01A-11D-A20D-08	TCGA-CF-A3MH-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8867b16f-cd05-41e9-b3ca-4c72a1ebeb70	8ad1181e-2e1d-40cb-a18d-9240b5ab1733	g.chr19:41518645G>T	ENST00000324071.4	+	8	1226	c.1219G>T	c.(1219-1221)Gcc>Tcc	p.A407S	CYP2B6_ENST00000330446.5_Missense_Mutation_p.A207S|CYP2B6_ENST00000593831.1_Missense_Mutation_p.A171S	NM_000767.4	NP_000758.1	P20813	CP2B6_HUMAN	cytochrome P450, family 2, subfamily B, polypeptide 6	407					cellular ketone metabolic process (GO:0042180)|drug metabolic process (GO:0017144)|exogenous drug catabolic process (GO:0042738)|oxidation-reduction process (GO:0055114)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum membrane (GO:0005789)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced flavin or flavoprotein as one donor, and incorporation of one atom of oxygen (GO:0016712)	p.A407T(1)		NS(1)|breast(1)|endometrium(5)|kidney(1)|lung(14)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	28			LUSC - Lung squamous cell carcinoma(20;0.00322)		Amitriptyline(DB00321)|Amlodipine(DB00381)|Amprenavir(DB00701)|Antipyrine(DB01435)|Artemether(DB06697)|Atorvastatin(DB01076)|Azelastine(DB00972)|Benzphetamine(DB00865)|Benzyl alcohol(DB06770)|Bifonazole(DB04794)|Brompheniramine(DB00835)|Bupropion(DB01156)|Carbamazepine(DB00564)|Carbinoxamine(DB00748)|Cholecalciferol(DB00169)|Cinnarizine(DB00568)|Cisapride(DB00604)|Cisplatin(DB00515)|Citalopram(DB00215)|Clobazam(DB00349)|Clofibrate(DB00636)|Clopidogrel(DB00758)|Clotiazepam(DB01559)|Clotrimazole(DB00257)|Colchicine(DB01394)|Cyclophosphamide(DB00531)|Desipramine(DB01151)|Dexamethasone(DB01234)|Dextromethorphan(DB00514)|Diazepam(DB00829)|Diclofenac(DB00586)|Diphenhydramine(DB01075)|Domperidone(DB01184)|Doxorubicin(DB00997)|Efavirenz(DB00625)|Enzalutamide(DB08899)|Epinastine(DB00751)|Erythromycin(DB00199)|Estrone(DB00655)|Ethanol(DB00898)|Ethylmorphine(DB01466)|Flunarizine(DB04841)|Flunitrazepam(DB01544)|Fluoxetine(DB00472)|Fluvastatin(DB01095)|Fluvoxamine(DB00176)|Fosphenytoin(DB01320)|Halothane(DB01159)|Ifosfamide(DB01181)|Imipramine(DB00458)|Irinotecan(DB00762)|Isoflurane(DB00753)|Itraconazole(DB01167)|Ketamine(DB01221)|Ketobemidone(DB06738)|Ketoconazole(DB01026)|Lidocaine(DB00281)|Loperamide(DB00836)|Lopinavir(DB01601)|Lorcaserin(DB04871)|Malathion(DB00772)|Memantine(DB01043)|Methadone(DB00333)|Methimazole(DB00763)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyltestosterone(DB06710)|Mexiletine(DB00379)|Mianserin(DB06148)|Miconazole(DB01110)|Midazolam(DB00683)|Modafinil(DB00745)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicardipine(DB00622)|Nicotine(DB00184)|Nifedipine(DB01115)|Nilotinib(DB04868)|Nitric Oxide(DB00435)|Orphenadrine(DB01173)|Ospemifene(DB04938)|Paroxetine(DB00715)|Perhexiline(DB01074)|Permethrin(DB04930)|Perphenazine(DB00850)|Pethidine(DB00454)|Phenobarbital(DB01174)|Phenytoin(DB00252)|Prasugrel(DB06209)|Primidone(DB00794)|Promethazine(DB01069)|Propofol(DB00818)|Quinidine(DB00908)|Raloxifene(DB00481)|Regorafenib(DB08896)|Rifampicin(DB01045)|Rilpivirine(DB08864)|Ritonavir(DB00503)|Ropivacaine(DB00296)|Roxithromycin(DB00778)|Selegiline(DB01037)|Sertraline(DB01104)|Sevoflurane(DB01236)|Simvastatin(DB00641)|Sorafenib(DB00398)|Sulfaphenazole(DB06729)|Sulfinpyrazone(DB01138)|Tamoxifen(DB00675)|Temazepam(DB00231)|Testosterone(DB00624)|Thiotepa(DB04572)|Ticlopidine(DB00208)|Tramadol(DB00193)|Tretinoin(DB00755)|Valproic Acid(DB00313)|Venlafaxine(DB00285)|Verapamil(DB00661)	AAAACCAGACGCCTTCAATCC	0.458																																						uc002opr.1		NaN																	1	Substitution - Missense(1)		endometrium(1)	ovary(1)|skin(1)	2						c.(1219-1221)GCC>TCC		cytochrome P450, family 2, subfamily B,	Bupropion(DB01156)|Butalbital(DB00241)|Carbamazepine(DB00564)|Clopidogrel(DB00758)|Cyclophosphamide(DB00531)|Efavirenz(DB00625)|Ifosfamide(DB01181)|Memantine(DB01043)|Meperidine(DB00454)|Mephenytoin(DB00532)|Methadone(DB00333)|Methylphenobarbital(DB00849)|Midazolam(DB00683)|Nelfinavir(DB00220)|Nevirapine(DB00238)|Nicotine(DB00184)|Orphenadrine(DB01173)|Phenytoin(DB00252)|Propofol(DB00818)|Ritonavir(DB00503)|Selegiline(DB01037)|Sertraline(DB01104)|Ticlopidine(DB00208)|Troleandomycin(DB01361)						177.0	178.0	178.0					19																	41518645		2203	4300	6503	SO:0001583	missense	1555				cellular ketone metabolic process|exogenous drug catabolic process|steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	aromatase activity|electron carrier activity|heme binding|oxygen binding	g.chr19:41518645G>T	AF182277	CCDS12570.1	19q13.2	2013-07-25	2003-01-14		ENSG00000197408	ENSG00000197408		"""Cytochrome P450s"""	2615	protein-coding gene	gene with protein product		123930	"""cytochrome P450, subfamily IIB (phenobarbital-inducible), polypeptide 6"", ""cytochrome P450, family 2, subfamily B"", ""cytochrome P450, subfamily IIB (phenobarbital-inducible)"""	CYP2B		7668294, 15128046	Standard	NM_000767		Approved	CPB6, CYPIIB6	uc002opr.1	P20813	OTTHUMG00000182714	ENST00000324071.4:c.1219G>T	19.37:g.41518645G>T	ENSP00000324648:p.Ala407Ser					CYP2A7_uc002opo.2_Intron|CYP2B6_uc010xvu.1_Missense_Mutation_p.A207S	p.A407S	NM_000767	NP_000758	P20813	CP2B6_HUMAN	LUSC - Lung squamous cell carcinoma(20;0.00322)		8	1226	+			407					B4DWP3|Q2V565|Q9UK46	Missense_Mutation	SNP	ENST00000324071.4	37	c.1219G>T	CCDS12570.1	.	.	.	.	.	.	.	.	.	.	.	7.280	0.608906	0.14066	.	.	ENSG00000197408	ENST00000324071;ENST00000330446	T;T	0.66638	5.08;-0.22	3.5	-6.84	0.01687	.	1.100600	0.06981	N	0.819822	T	0.36552	0.0971	N	0.04994	-0.135	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.17722	0.003;0.019	T	0.24584	-1.0156	10	0.17369	T	0.5	.	6.8075	0.23786	0.3297:0.0:0.5473:0.123	.	207;407	B4DWP3;P20813	.;CP2B6_HUMAN	S	407;207	ENSP00000324648:A407S;ENSP00000330650:A207S	ENSP00000324648:A407S	A	+	1	0	CYP2B6	46210485	0.000000	0.05858	0.000000	0.03702	0.491000	0.33493	-0.945000	0.03909	-1.219000	0.02597	-0.752000	0.03492	GCC		0.458	CYP2B6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463260.1		NM_000767		109	101	1	0	1.16149e-67	0.139131	1.33286e-67	109	101		
KLK15	55554	broad.mit.edu	37	19	51330226	51330226	+	Missense_Mutation	SNP	C	C	T			TCGA-CF-A3MH-01A-11D-A20D-08	TCGA-CF-A3MH-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8867b16f-cd05-41e9-b3ca-4c72a1ebeb70	8ad1181e-2e1d-40cb-a18d-9240b5ab1733	g.chr19:51330226C>T	ENST00000598239.1	-	3	419	c.389G>A	c.(388-390)cGt>cAt	p.R130H	KLK15_ENST00000596931.1_Missense_Mutation_p.R129H|KLK15_ENST00000416184.1_Intron|KLK15_ENST00000326856.4_Missense_Mutation_p.R129H|KLK15_ENST00000301421.2_Missense_Mutation_p.R130H	NM_017509.2	NP_059979.2	Q9H2R5	KLK15_HUMAN	kallikrein-related peptidase 15	130	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)		GTGGGGGCAACGCGTGGGTAG	0.706																																					Pancreas(140;10 2513 7143 9246)	uc002ptl.2		NaN																	0				lung(1)|breast(1)	2						c.(388-390)CGT>CAT		kallikrein-related peptidase 15 isoform 4							31.0	33.0	32.0					19																	51330226		2201	4297	6498	SO:0001583	missense	55554				proteolysis	extracellular region	serine-type endopeptidase activity	g.chr19:51330226C>T	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.389G>A	19.37:g.51330226C>T	ENSP00000469315:p.Arg130His					KLK15_uc002ptm.2_Intron|KLK15_uc002ptn.2_Missense_Mutation_p.R130H|KLK15_uc002pto.2_Missense_Mutation_p.R129H|KLK15_uc010ych.1_Intron|KLK15_uc010yci.1_Missense_Mutation_p.R129H|KLK15_uc010eod.2_RNA	p.R130H	NM_017509	NP_059979	Q9H2R5	KLK15_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00758)|GBM - Glioblastoma multiforme(134;0.0143)	3	420	-		all_neural(266;0.057)	130			Peptidase S1.		A0AUY8|Q15358|Q6ISI0|Q9H2R3|Q9H2R4|Q9H2R6|Q9HBG9	Missense_Mutation	SNP	ENST00000598239.1	37	c.389G>A	CCDS12805.1	.	.	.	.	.	.	.	.	.	.	c	7.795	0.712464	0.15306	.	.	ENSG00000174562	ENST00000326856;ENST00000301421;ENST00000544946	D	0.88818	-2.43	4.39	-0.16	0.13375	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.444898	0.19247	N	0.119028	T	0.79557	0.4466	L	0.31065	0.9	0.09310	N	1	B;B;B	0.22800	0.075;0.02;0.026	B;B;B	0.18561	0.022;0.013;0.021	T	0.68614	-0.5362	10	0.59425	D	0.04	.	7.6546	0.28369	0.0:0.6226:0.0:0.3774	.	130;129;130	Q6UBM2;Q6ISI0;Q9H2R5	.;.;KLK15_HUMAN	H	130	ENSP00000301421:R130H	ENSP00000301421:R130H	R	-	2	0	KLK15	56022038	0.000000	0.05858	0.062000	0.19696	0.018000	0.09664	-0.384000	0.07389	-0.009000	0.14296	-0.266000	0.10368	CGT		0.706	KLK15-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465160.1		NM_017509		29	34	0	0	0	0.173368	0	29	34		
TTN	7273	broad.mit.edu	37	2	179394807	179394807	+	Missense_Mutation	SNP	C	C	G			TCGA-CF-A3MH-01A-11D-A20D-08	TCGA-CF-A3MH-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8867b16f-cd05-41e9-b3ca-4c72a1ebeb70	8ad1181e-2e1d-40cb-a18d-9240b5ab1733	g.chr2:179394807C>G	ENST00000591111.1	-	309	101712	c.101488G>C	c.(101488-101490)Gac>Cac	p.D33830H	TTN-AS1_ENST00000587944.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000604571.1_RNA|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000587568.1_RNA|TTN-AS1_ENST00000592161.1_RNA|TTN-AS1_ENST00000442329.2_RNA|TTN-AS1_ENST00000585625.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000587576.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000589355.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.D35471H|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000588716.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.D26531H|TTN_ENST00000460472.2_Missense_Mutation_p.D26406H|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.D26598H|TTN_ENST00000342992.6_Missense_Mutation_p.D32903H|TTN-AS1_ENST00000586831.1_RNA			Q8WZ42	TITIN_HUMAN	titin	33830	Ig-like 149.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CCTCCCTTGTCTTCAGAGAGT	0.348																																						uc010zfg.1		NaN																	0				ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(98707-98709)GAC>CAC		titin isoform N2-A							89.0	86.0	87.0					2																	179394807		1806	4078	5884	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179394807C>G	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.101488G>C	2.37:g.179394807C>G	ENSP00000465570:p.Asp33830His					uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.D26598H|TTN_uc010zfi.1_Missense_Mutation_p.D26531H|TTN_uc010zfj.1_Missense_Mutation_p.D26406H|TTN_uc002umq.2_5'Flank	p.D32903H	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		308	98931	-			33830					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.98707G>C		.	.	.	.	.	.	.	.	.	.	C	12.72	2.021143	0.35701	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.68479	-0.33;-0.33;-0.33;-0.33	5.77	4.89	0.63831	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.65790	0.2725	L	0.53671	1.685	0.26156	N	0.980071	B;B;B;B	0.28850	0.074;0.074;0.225;0.074	B;B;B;B	0.35770	0.21;0.21;0.21;0.21	T	0.62835	-0.6770	9	0.87932	D	0	.	11.2193	0.48844	0.0:0.9143:0.0:0.0857	.	26406;26531;26598;33830	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	H	32903;26406;26598;26531;26403	ENSP00000343764:D32903H;ENSP00000434586:D26406H;ENSP00000340554:D26598H;ENSP00000352154:D26531H	ENSP00000340554:D26598H	D	-	1	0	TTN	179103053	1.000000	0.71417	1.000000	0.80357	0.851000	0.48451	2.013000	0.40942	1.427000	0.47276	0.561000	0.74099	GAC		0.348	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1		NM_133378		13	26	0	0	0	0.146539	0	13	26		
TTN	7273	broad.mit.edu	37	2	179428319	179428319	+	Missense_Mutation	SNP	C	C	T			TCGA-CF-A3MH-01A-11D-A20D-08	TCGA-CF-A3MH-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8867b16f-cd05-41e9-b3ca-4c72a1ebeb70	8ad1181e-2e1d-40cb-a18d-9240b5ab1733	g.chr2:179428319C>T	ENST00000591111.1	-	276	77841	c.77617G>A	c.(77617-77619)Gtt>Att	p.V25873I	TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.V27514I|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.V18574I|TTN_ENST00000460472.2_Missense_Mutation_p.V18449I|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.V18641I|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.V24946I|TTN-AS1_ENST00000586831.1_RNA			Q8WZ42	TITIN_HUMAN	titin	25873	Fibronectin type-III 88. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GTCCATCTAACGCCTTCCTTA	0.463																																						uc010zfg.1		NaN																	0				ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(74836-74838)GTT>ATT		titin isoform N2-A							122.0	121.0	121.0					2																	179428319		1991	4165	6156	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179428319C>T	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.77617G>A	2.37:g.179428319C>T	ENSP00000465570:p.Val25873Ile					uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.V18641I|TTN_uc010zfi.1_Missense_Mutation_p.V18574I|TTN_uc010zfj.1_Missense_Mutation_p.V18449I	p.V24946I	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		275	75060	-			25873					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.74836G>A		.	.	.	.	.	.	.	.	.	.	C	11.39	1.623564	0.28889	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.57273	0.41;0.41;0.41;0.41	5.97	-8.04	0.01110	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.38904	0.1058	N	0.25332	0.735	0.22446	N	0.999098	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.08055	0.001;0.001;0.003;0.003	T	0.28396	-1.0045	9	0.87932	D	0	.	18.1677	0.89733	0.0:0.5467:0.0:0.4533	.	18449;18574;18641;25873	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	I	24946;18449;18641;18574;18447	ENSP00000343764:V24946I;ENSP00000434586:V18449I;ENSP00000340554:V18641I;ENSP00000352154:V18574I	ENSP00000340554:V18641I	V	-	1	0	TTN	179136565	0.022000	0.18835	0.053000	0.19242	0.993000	0.82548	0.020000	0.13466	-1.365000	0.02158	-0.290000	0.09829	GTT		0.463	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1		NM_133378		59	65	0	0	0	0.139131	0	59	65		
C2orf66	401027	broad.mit.edu	37	2	197672317	197672317	+	Silent	SNP	C	C	T			TCGA-CF-A3MH-01A-11D-A20D-08	TCGA-CF-A3MH-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8867b16f-cd05-41e9-b3ca-4c72a1ebeb70	8ad1181e-2e1d-40cb-a18d-9240b5ab1733	g.chr2:197672317C>T	ENST00000342506.2	-	2	1092	c.204G>A	c.(202-204)aaG>aaA	p.K68K		NM_213608.2	NP_998773.1	Q6UXQ4	CB066_HUMAN	chromosome 2 open reading frame 66	68						extracellular region (GO:0005576)				endometrium(2)|large_intestine(2)|lung(4)|ovary(1)	9						GACCTCTGCCCTTAAAATATG	0.388																																						uc002utv.2		NaN																	0					0						c.(202-204)AAG>AAA		hypothetical protein LOC401027 precursor							111.0	119.0	116.0					2																	197672317		2203	4300	6503	SO:0001819	synonymous_variant	401027					extracellular region		g.chr2:197672317C>T		CCDS2317.1	2q33.1	2012-12-03	2012-12-03	2012-12-03	ENSG00000187944	ENSG00000187944			33809	protein-coding gene	gene with protein product							Standard	NM_213608		Approved	UNQ6411	uc002utv.3	Q6UXQ4	OTTHUMG00000132742	ENST00000342506.2:c.204G>A	2.37:g.197672317C>T							p.K68K	NM_213608	NP_998773	Q6UXQ4	CB066_HUMAN			2	1093	-			68					B2RNW3	Silent	SNP	ENST00000342506.2	37	c.204G>A	CCDS2317.1																																																																																				0.388	C2orf66-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256102.1		NM_213608		41	74	0	0	0	0.139131	0	41	74		
ANKRD44	91526	broad.mit.edu	37	2	197975551	197975551	+	Missense_Mutation	SNP	A	A	T			TCGA-CF-A3MH-01A-11D-A20D-08	TCGA-CF-A3MH-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8867b16f-cd05-41e9-b3ca-4c72a1ebeb70	8ad1181e-2e1d-40cb-a18d-9240b5ab1733	g.chr2:197975551A>T	ENST00000328737.2	-	9	925	c.849T>A	c.(847-849)agT>agA	p.S283R	ANKRD44_ENST00000282272.8_Missense_Mutation_p.S300R|ANKRD44_ENST00000337207.5_Missense_Mutation_p.S283R|ANKRD44_ENST00000409919.1_Missense_Mutation_p.S308R|ANKRD44_ENST00000539527.1_Missense_Mutation_p.S236R|ANKRD44_ENST00000450567.1_Missense_Mutation_p.S283R|ANKRD44_ENST00000409153.1_Missense_Mutation_p.S308R			Q8N8A2	ANR44_HUMAN	ankyrin repeat domain 44	308										NS(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(20)|ovary(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	45			OV - Ovarian serous cystadenocarcinoma(117;0.246)			TGTGCAGTGGACTTTTGCCAT	0.448																																						uc002uuc.2		NaN																	0				ovary(4)|skin(1)	5						c.(922-924)AGT>AGA		ankyrin repeat domain 44							172.0	163.0	166.0					2																	197975551		2203	4300	6503	SO:0001583	missense	91526						protein binding	g.chr2:197975551A>T	AK097086	CCDS33355.1, CCDS33355.2, CCDS74619.1	2q33.1	2013-01-10			ENSG00000065413	ENSG00000065413		"""Serine/threonine phosphatases / Protein phosphatase 6, regulatory subunits"", ""Ankyrin repeat domain containing"""	25259	protein-coding gene	gene with protein product	"""protein phosphatase 6 ankyrin repeat subunit B"""						Standard	NM_153697		Approved	PP6-ARS-B	uc021vuj.1	Q8N8A2	OTTHUMG00000154411	ENST00000328737.2:c.849T>A	2.37:g.197975551A>T	ENSP00000331516:p.Ser283Arg					ANKRD44_uc002utz.3_5'UTR|ANKRD44_uc002uua.1_Missense_Mutation_p.S283R|ANKRD44_uc002uub.2_Missense_Mutation_p.S308R|ANKRD44_uc010zgw.1_Missense_Mutation_p.S236R	p.S308R	NM_153697	NP_710181	Q8N8A2	ANR44_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.246)		9	1091	-			308			ANK 10.		Q53SL9|Q6P480|Q86VL5|Q8IZ72|Q9UFA4	Missense_Mutation	SNP	ENST00000328737.2	37	c.924T>A		.	.	.	.	.	.	.	.	.	.	A	17.60	3.430294	0.62844	.	.	ENSG00000065413	ENST00000424317;ENST00000282272;ENST00000328737;ENST00000450567;ENST00000337207;ENST00000422886;ENST00000409153;ENST00000539527;ENST00000409919	T;T;T;T;T;T;T;T;T	0.54866	2.3;2.29;0.55;0.55;2.3;1.85;2.3;1.84;2.29	5.03	2.67	0.31697	.	0.000000	0.85682	D	0.000000	T	0.56455	0.1986	L	0.35249	1.045	0.45005	D	0.998023	B;D	0.76494	0.338;0.999	B;D	0.81914	0.26;0.995	T	0.53920	-0.8370	10	0.56958	D	0.05	.	7.3443	0.26654	0.7434:0.0:0.2566:0.0	.	236;308	F5H682;Q8N8A2-3	.;.	R	105;300;283;283;283;6;308;236;308	ENSP00000403415:S105R;ENSP00000282272:S300R;ENSP00000331516:S283R;ENSP00000402420:S283R;ENSP00000338794:S283R;ENSP00000416319:S6R;ENSP00000387141:S308R;ENSP00000437825:S236R;ENSP00000387233:S308R	ENSP00000282272:S300R	S	-	3	2	ANKRD44	197683796	0.998000	0.40836	1.000000	0.80357	0.928000	0.56348	0.530000	0.23036	0.405000	0.25532	-0.371000	0.07208	AGT		0.448	ANKRD44-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000335113.1		NM_153697		8	166	0	0	0	0.047766	0	8	166		
ATG16L1	55054	broad.mit.edu	37	2	234183394	234183394	+	Silent	SNP	G	G	T			TCGA-CF-A3MH-01A-11D-A20D-08	TCGA-CF-A3MH-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8867b16f-cd05-41e9-b3ca-4c72a1ebeb70	8ad1181e-2e1d-40cb-a18d-9240b5ab1733	g.chr2:234183394G>T	ENST00000392017.4	+	9	1181	c.924G>T	c.(922-924)gtG>gtT	p.V308V	ATG16L1_ENST00000498620.1_3'UTR|SCARNA5_ENST00000516201.1_RNA|ATG16L1_ENST00000392020.4_Silent_p.V289V|ATG16L1_ENST00000373525.5_Silent_p.V164V|ATG16L1_ENST00000392018.1_Silent_p.V325V|ATG16L1_ENST00000347464.5_Silent_p.V145V	NM_001190266.1|NM_001190267.1|NM_030803.6	NP_001177195.1|NP_001177196.1|NP_110430.5	Q676U5	A16L1_HUMAN	autophagy related 16-like 1 (S. cerevisiae)	308					autophagic vacuole assembly (GO:0000045)|negative stranded viral RNA replication (GO:0039689)|protein homooligomerization (GO:0051260)|protein transport (GO:0015031)	autophagic vacuole (GO:0005776)|autophagic vacuole membrane (GO:0000421)|axoneme (GO:0005930)	identical protein binding (GO:0042802)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(7)|prostate(3)|skin(1)	25		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.0539)		Epithelial(121;1.53e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000379)|LUSC - Lung squamous cell carcinoma(224;0.00619)|Lung(119;0.00732)|GBM - Glioblastoma multiforme(43;0.11)		GTAAAGAAGTGAGGGTACCAG	0.473																																						uc002vty.2		NaN																	0					0						c.(922-924)GTG>GTT		APG16 autophagy 16-like isoform 1							184.0	149.0	161.0					2																	234183394		2203	4300	6503	SO:0001819	synonymous_variant	55054				autophagic vacuole assembly|protein homooligomerization|protein transport	autophagic vacuole|pre-autophagosomal structure membrane	protein binding	g.chr2:234183394G>T	AK000897	CCDS2502.2, CCDS2503.2, CCDS54438.1	2q37.1	2014-02-12	2012-06-06	2005-09-13	ENSG00000085978	ENSG00000085978		"""WD repeat domain containing"""	21498	protein-coding gene	gene with protein product		610767	"""APG16 autophagy 16-like (S. cerevisiae)"", ""ATG16 autophagy related 16-like (S. cerevisiae)"", ""ATG16 autophagy related 16-like 1 (S. cerevisiae)"""	APG16L, ATG16L			Standard	NM_017974		Approved	WDR30, FLJ10035, ATG16A	uc002vty.3	Q676U5	OTTHUMG00000133619	ENST00000392017.4:c.924G>T	2.37:g.234183394G>T						ATG16L1_uc002vtx.1_Silent_p.V145V|ATG16L1_uc002vua.2_Silent_p.V289V|ATG16L1_uc002vub.2_Silent_p.V166V|ATG16L1_uc002vtz.2_Silent_p.V164V|ATG16L1_uc002vud.3_Silent_p.V224V|SCARNA5_uc002vue.1_5'Flank	p.V308V	NM_030803	NP_110430	Q676U5	A16L1_HUMAN		Epithelial(121;1.53e-17)|BRCA - Breast invasive adenocarcinoma(100;0.000379)|LUSC - Lung squamous cell carcinoma(224;0.00619)|Lung(119;0.00732)|GBM - Glioblastoma multiforme(43;0.11)	9	1181	+		Breast(86;0.0013)|Renal(207;0.00339)|all_hematologic(139;0.0116)|all_lung(227;0.0179)|Acute lymphoblastic leukemia(138;0.0327)|Lung NSC(271;0.0539)	308					A3EXK9|A3EXL0|B6ZDH0|Q6IPN1|Q6UXW4|Q6ZVZ5|Q8NCY2|Q96JV5|Q9H619	Silent	SNP	ENST00000392017.4	37	c.924G>T	CCDS2503.2																																																																																				0.473	ATG16L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257069.2		NM_017974		34	34	1	0	2.35958e-20	0.11126	2.66405e-20	34	34		
KRTAP27-1	643812	broad.mit.edu	37	21	31709534	31709534	+	Silent	SNP	G	G	A			TCGA-CF-A3MH-01A-11D-A20D-08	TCGA-CF-A3MH-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8867b16f-cd05-41e9-b3ca-4c72a1ebeb70	8ad1181e-2e1d-40cb-a18d-9240b5ab1733	g.chr21:31709534G>A	ENST00000382835.2	-	1	478	c.453C>T	c.(451-453)ttC>ttT	p.F151F		NM_001077711.1	NP_001071179.1	Q3LI81	KR271_HUMAN	keratin associated protein 27-1	151						intermediate filament (GO:0005882)		p.F151F(2)		endometrium(2)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)|skin(1)	18						CCAGAGTTTCGAAATTTTTAG	0.493																																						uc002ynx.1		NaN																	2	Substitution - coding silent(2)	p.F151S(1)	endometrium(2)	ovary(2)	2						c.(451-453)TTC>TTT		keratin associated protein 27-1							144.0	146.0	145.0					21																	31709534		2203	4300	6503	SO:0001819	synonymous_variant	643812					intermediate filament		g.chr21:31709534G>A	AB096937	CCDS33532.1	21q22.11	2007-11-23			ENSG00000206107	ENSG00000206107		"""Keratin associated proteins"""	33864	protein-coding gene	gene with protein product							Standard	NM_001077711		Approved		uc002ynx.1	Q3LI81	OTTHUMG00000059577	ENST00000382835.2:c.453C>T	21.37:g.31709534G>A							p.F151F	NM_001077711	NP_001071179	Q3LI81	KR271_HUMAN			1	479	-			151						Silent	SNP	ENST00000382835.2	37	c.453C>T	CCDS33532.1																																																																																				0.493	KRTAP27-1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000132470.3		NM_001077711		81	100	0	0	0	0.139131	0	81	100		
UMODL1	89766	broad.mit.edu	37	21	43519101	43519101	+	Missense_Mutation	SNP	C	C	T			TCGA-CF-A3MH-01A-11D-A20D-08	TCGA-CF-A3MH-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8867b16f-cd05-41e9-b3ca-4c72a1ebeb70	8ad1181e-2e1d-40cb-a18d-9240b5ab1733	g.chr21:43519101C>T	ENST00000408910.2	+	7	997	c.997C>T	c.(997-999)Cgt>Tgt	p.R333C	UMODL1_ENST00000400427.1_Missense_Mutation_p.R261C|UMODL1_ENST00000400424.2_Missense_Mutation_p.R261C|UMODL1_ENST00000408989.2_Missense_Mutation_p.R333C	NM_001004416.2	NP_001004416	Q5DID0	UROL1_HUMAN	uromodulin-like 1	333	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adipose tissue development (GO:0060612)|cellular response to gonadotropin-releasing hormone (GO:0097211)|multicellular organismal reproductive process (GO:0048609)|regulation of apoptotic process (GO:0042981)|regulation of gene expression (GO:0010468)|regulation of ovarian follicle development (GO:2000354)|single fertilization (GO:0007338)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|peptidase inhibitor activity (GO:0030414)			breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(22)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	47						AGTATCCTGGCGTTTAAATTC	0.522																																					Pancreas(122;680 807 13940 14411 22888 25505 31742 36028 36332 38435)	uc002zaf.1		NaN																	0				ovary(2)|skin(1)	3						c.(997-999)CGT>TGT		uromodulin-like 1 isoform 1 precursor							140.0	134.0	136.0					21																	43519101		1944	4153	6097	SO:0001583	missense	89766					cytoplasm|extracellular region|integral to membrane|plasma membrane	calcium ion binding|peptidase inhibitor activity	g.chr21:43519101C>T		CCDS42935.1, CCDS42936.1, CCDS56214.1, CCDS56215.1	21q22.3	2008-07-04			ENSG00000177398	ENSG00000177398			12560	protein-coding gene	gene with protein product	"""olfactorin"""	613859				16026467	Standard	NM_173568		Approved		uc002zag.1	Q5DID0	OTTHUMG00000086788	ENST00000408910.2:c.997C>T	21.37:g.43519101C>T	ENSP00000386147:p.Arg333Cys					UMODL1_uc002zad.1_Missense_Mutation_p.R261C|UMODL1_uc002zae.1_Missense_Mutation_p.R261C|UMODL1_uc002zag.1_Missense_Mutation_p.R333C|UMODL1_uc010gow.1_Missense_Mutation_p.R125C|UMODL1_uc002zai.1_5'UTR|UMODL1_uc010gox.1_RNA|UMODL1_uc010goy.1_5'UTR|UMODL1_uc002zaj.1_RNA|UMODL1_uc010goz.1_Missense_Mutation_p.R78C	p.R333C	NM_001004416	NP_001004416	Q5DID0	UROL1_HUMAN			7	997	+			333			Extracellular (Potential).|Fibronectin type-III 1.		C9JCE6|Q5DIC9|Q6LA40|Q6LA41|Q8N216	Missense_Mutation	SNP	ENST00000408910.2	37	c.997C>T	CCDS42936.1	.	.	.	.	.	.	.	.	.	.	C	10.02	1.235742	0.22626	.	.	ENSG00000177398	ENST00000400427;ENST00000400424;ENST00000408989;ENST00000408910;ENST00000380462	T;T;T;T	0.54866	0.55;0.55;0.55;0.55	3.63	-6.58	0.01836	Fibronectin, type III (2);	1.454140	0.04438	N	0.370423	T	0.49338	0.1551	N	0.19112	0.55	0.20489	N	0.999891	D;D;B	0.71674	0.989;0.998;0.068	P;D;B	0.64042	0.729;0.921;0.046	T	0.54655	-0.8261	10	0.42905	T	0.14	-0.1695	7.0023	0.24817	0.2776:0.3888:0.3336:0.0	.	261;333;333	Q5DID0-3;Q5DID0-2;Q5DID0	.;.;UROL1_HUMAN	C	261;261;333;333;179	ENSP00000383279:R261C;ENSP00000383276:R261C;ENSP00000386126:R333C;ENSP00000386147:R333C	ENSP00000369829:R179C	R	+	1	0	UMODL1	42392170	0.013000	0.17824	0.004000	0.12327	0.005000	0.04900	-0.162000	0.10012	-1.512000	0.01791	-1.113000	0.02065	CGT		0.522	UMODL1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195292.2				5	119	0	0	0	0.014758	0	5	119		
TRPM2	7226	broad.mit.edu	37	21	45784025	45784025	+	Missense_Mutation	SNP	C	C	T			TCGA-CF-A3MH-01A-11D-A20D-08	TCGA-CF-A3MH-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8867b16f-cd05-41e9-b3ca-4c72a1ebeb70	8ad1181e-2e1d-40cb-a18d-9240b5ab1733	g.chr21:45784025C>T	ENST00000397928.1	+	3	728	c.283C>T	c.(283-285)Cat>Tat	p.H95Y	TRPM2_ENST00000397932.2_Missense_Mutation_p.H95Y|TRPM2_ENST00000300482.5_Missense_Mutation_p.H95Y|TRPM2_ENST00000300481.9_Missense_Mutation_p.H95Y	NM_003307.3	NP_003298	O94759	TRPM2_HUMAN	transient receptor potential cation channel, subfamily M, member 2	95					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|response to hydroperoxide (GO:0033194)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ADP-ribose diphosphatase activity (GO:0047631)|calcium channel activity (GO:0005262)|manganese ion transmembrane transporter activity (GO:0005384)|sodium channel activity (GO:0005272)			breast(3)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(15)|lung(29)|ovary(3)|pancreas(1)|prostate(5)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(1)	76						TGGCTACACGCATGAGCAGCA	0.582																																						uc002zet.1		NaN																	0				ovary(1)|central_nervous_system(1)|pancreas(1)	3						c.(283-285)CAT>TAT		transient receptor potential cation channel,							108.0	77.0	87.0					21																	45784025		2203	4300	6503	SO:0001583	missense	7226					integral to plasma membrane	ADP-ribose diphosphatase activity|calcium channel activity|sodium channel activity	g.chr21:45784025C>T	AB001535	CCDS13710.1	21q22.3	2011-12-14		2002-01-18	ENSG00000142185	ENSG00000142185		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Nudix motif containing"""	12339	protein-coding gene	gene with protein product		603749		TRPC7		9806837, 11385575, 16382100	Standard	NR_038257		Approved	KNP3, LTRPC2, NUDT9L1, NUDT9H, EREG1	uc002zew.1	O94759	OTTHUMG00000040840	ENST00000397928.1:c.283C>T	21.37:g.45784025C>T	ENSP00000381023:p.His95Tyr					TRPM2_uc002zeu.1_Missense_Mutation_p.H95Y|TRPM2_uc002zew.1_Missense_Mutation_p.H95Y|TRPM2_uc010gpt.1_Missense_Mutation_p.H95Y	p.H95Y	NM_003307	NP_003298	O94759	TRPM2_HUMAN			4	496	+			95			Cytoplasmic (Potential).		D3DSL6|Q5KTC2|Q6J3P5|Q96KN6|Q96Q93	Missense_Mutation	SNP	ENST00000397928.1	37	c.283C>T	CCDS13710.1	.	.	.	.	.	.	.	.	.	.	C	11.54	1.668251	0.29604	.	.	ENSG00000142185	ENST00000300482;ENST00000431901;ENST00000397928;ENST00000300481;ENST00000397932	T;T;T;T;T	0.55760	0.5;0.5;0.5;0.5;0.5	4.18	0.726	0.18248	.	0.456514	0.22160	N	0.063790	T	0.31827	0.0809	N	0.19112	0.55	0.09310	N	1	B;B	0.30281	0.275;0.013	B;B	0.28784	0.094;0.005	T	0.22626	-1.0211	10	0.54805	T	0.06	-0.2673	7.308	0.26459	0.4318:0.4532:0.115:0.0	.	95;95	E9PGK7;O94759	.;TRPM2_HUMAN	Y	95	ENSP00000300482:H95Y;ENSP00000393982:H95Y;ENSP00000381023:H95Y;ENSP00000300481:H95Y;ENSP00000381026:H95Y	ENSP00000300481:H95Y	H	+	1	0	TRPM2	44608453	0.041000	0.20044	0.001000	0.08648	0.915000	0.54546	2.395000	0.44459	0.695000	0.31675	0.462000	0.41574	CAT		0.582	TRPM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098086.1		NM_003307		23	23	0	0	0	0.083992	0	23	23		
MASP1	5648	broad.mit.edu	37	3	186968087	186968087	+	Missense_Mutation	SNP	C	C	G			TCGA-CF-A3MH-01A-11D-A20D-08	TCGA-CF-A3MH-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8867b16f-cd05-41e9-b3ca-4c72a1ebeb70	8ad1181e-2e1d-40cb-a18d-9240b5ab1733	g.chr3:186968087C>G	ENST00000337774.5	-	8	1431	c.1042G>C	c.(1042-1044)Gag>Cag	p.E348Q	MASP1_ENST00000296280.6_Missense_Mutation_p.E348Q|MASP1_ENST00000392472.2_Missense_Mutation_p.E235Q|MASP1_ENST00000495249.1_Intron|MASP1_ENST00000392470.2_Missense_Mutation_p.E322Q|MASP1_ENST00000169293.6_Missense_Mutation_p.E348Q	NM_001879.5	NP_001870.3	P48740	MASP1_HUMAN	mannan-binding lectin serine peptidase 1 (C4/C2 activating component of Ra-reactive factor)	348	Sushi 1. {ECO:0000255|PROSITE- ProRule:PRU00302}.				complement activation (GO:0006956)|complement activation, lectin pathway (GO:0001867)|innate immune response (GO:0045087)|negative regulation of complement activation (GO:0045916)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	calcium ion binding (GO:0005509)|calcium-dependent protein binding (GO:0048306)|peptidase activity (GO:0008233)|protein homodimerization activity (GO:0042803)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|liver(2)|lung(27)|ovary(2)|pancreas(1)|prostate(3)|urinary_tract(1)	60	all_cancers(143;5.33e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;3.49e-18)	GBM - Glioblastoma multiforme(93;0.0366)		TTCAGACACTCAATCTGGAAT	0.488																																						uc003frh.1		NaN																	0				ovary(2)|breast(1)|liver(1)	4						c.(1042-1044)GAG>CAG		mannan-binding lectin serine protease 1 isoform							184.0	185.0	185.0					3																	186968087		2203	4300	6503	SO:0001583	missense	5648				complement activation, lectin pathway|negative regulation of complement activation|proteolysis	extracellular space	calcium ion binding|calcium-dependent protein binding|protein binding|protein homodimerization activity|serine-type endopeptidase activity	g.chr3:186968087C>G	D28593	CCDS33907.1, CCDS33908.1, CCDS33909.1	3q27-q28	2014-09-17	2005-08-17		ENSG00000127241	ENSG00000127241		"""Serine peptidases / Serine peptidases"""	6901	protein-coding gene	gene with protein product		600521	"""mannan-binding lectin serine protease 1 (C4/C2 activating component of Ra-reactive factor)"""	CRARF, PRSS5		8018603, 8240317	Standard	NR_033519		Approved	MASP	uc003fri.3	P48740	OTTHUMG00000156461	ENST00000337774.5:c.1042G>C	3.37:g.186968087C>G	ENSP00000336792:p.Glu348Gln					MASP1_uc003fri.2_Missense_Mutation_p.E348Q|MASP1_uc003frj.2_Missense_Mutation_p.E317Q|MASP1_uc003frk.1_Missense_Mutation_p.E348Q|MASP1_uc011bse.1_Missense_Mutation_p.E322Q	p.E348Q	NM_001879	NP_001870	P48740	MASP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;3.49e-18)	GBM - Glioblastoma multiforme(93;0.0366)	8	1374	-	all_cancers(143;5.33e-12)|Ovarian(172;0.0339)		348			Sushi 1.		A8K542|A8K6M1|B4E2L7|O95570|Q68D21|Q8IUV8|Q96RS4|Q9UF09	Missense_Mutation	SNP	ENST00000337774.5	37	c.1042G>C	CCDS33907.1	.	.	.	.	.	.	.	.	.	.	C	19.71	3.878407	0.72294	.	.	ENSG00000127241	ENST00000337774;ENST00000296280;ENST00000392472;ENST00000541896;ENST00000169293;ENST00000392470	T;T;T;T;T	0.64260	-0.09;-0.09;-0.09;-0.09;-0.09	5.7	5.7	0.88788	Complement control module (2);Sushi/SCR/CCP (3);	0.103697	0.64402	D	0.000005	T	0.72914	0.3520	L	0.52011	1.625	0.51012	D	0.9999	P;P;D;P;P	0.71674	0.86;0.565;0.998;0.914;0.738	B;P;D;B;P	0.64877	0.43;0.749;0.93;0.401;0.73	T	0.66416	-0.5929	10	0.22109	T	0.4	.	18.8226	0.92103	0.0:1.0:0.0:0.0	.	322;348;235;348;348	F8W876;P48740-3;P48740-4;P48740-2;P48740	.;.;.;.;MASP1_HUMAN	Q	348;348;235;235;348;322	ENSP00000336792:E348Q;ENSP00000296280:E348Q;ENSP00000376264:E235Q;ENSP00000169293:E348Q;ENSP00000376262:E322Q	ENSP00000169293:E348Q	E	-	1	0	MASP1	188450781	1.000000	0.71417	0.972000	0.41901	0.995000	0.86356	5.117000	0.64667	2.692000	0.91855	0.655000	0.94253	GAG		0.488	MASP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344262.1		NM_001879		79	136	0	0	0	0.139131	0	79	136		
NELFA	7469	broad.mit.edu	37	4	1985711	1985711	+	Missense_Mutation	SNP	G	G	A	rs149343602	byFrequency	TCGA-CF-A3MH-01A-11D-A20D-08	TCGA-CF-A3MH-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8867b16f-cd05-41e9-b3ca-4c72a1ebeb70	8ad1181e-2e1d-40cb-a18d-9240b5ab1733	g.chr4:1985711G>A	ENST00000411638.2	-	9	1181	c.1166C>T	c.(1165-1167)gCg>gTg	p.A389V	NELFA_ENST00000382882.3_Missense_Mutation_p.A400V|NELFA_ENST00000542778.1_Missense_Mutation_p.A254V|MIR943_ENST00000401286.1_RNA	NM_005663.4	NP_005654.3	Q9H3P2	NELFA_HUMAN	negative elongation factor complex member A	389					gene expression (GO:0010467)|multicellular organismal development (GO:0007275)|negative regulation of transcription elongation from RNA polymerase II promoter (GO:0034244)|positive regulation of viral transcription (GO:0050434)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	cytoplasm (GO:0005737)|NELF complex (GO:0032021)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)										GGTGGGCGCCGCAGGCGTGGG	0.716													G|||	3	0.000599042	0.0	0.0029	5008	,	,		13191	0.001		0.0	False		,,,				2504	0.0					uc003gem.2		NaN																	0				skin(1)	1						c.(1198-1200)GCG>GTG		Wolf-Hirschhorn syndrome candidate 2 protein		G	VAL/ALA	1,4399	2.1+/-5.4	0,1,2199	31.0	36.0	34.0		1199	4.3	0.0	4	dbSNP_134	34	0,8596		0,0,4298	no	missense	WHSC2	NM_005663.4	64	0,1,6497	AA,AG,GG		0.0,0.0227,0.0077	benign	400/540	1985711	1,12995	2200	4298	6498	SO:0001583	missense	7469				multicellular organismal development|positive regulation of viral transcription|regulation of transcription, DNA-dependent|transcription elongation from RNA polymerase II promoter|viral reproduction	nucleoplasm		g.chr4:1985711G>A	AF101434	CCDS3358.2	4p16.3	2013-01-31	2013-01-31	2013-01-31	ENSG00000185049	ENSG00000185049			12768	protein-coding gene	gene with protein product		606026	"""Wolf-Hirschhorn syndrome candidate 2"""	WHSC2		10409432	Standard	NM_005663		Approved	NELF-A	uc003gem.3	Q9H3P2	OTTHUMG00000089967	ENST00000411638.2:c.1166C>T	4.37:g.1985711G>A	ENSP00000399165:p.Ala389Val					WHSC2_uc003gek.2_Missense_Mutation_p.A126V|WHSC2_uc003gel.2_Missense_Mutation_p.A314V|WHSC2_uc003gen.2_Missense_Mutation_p.A254V	p.A400V	NM_005663	NP_005654	Q9H3P2	NELFA_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.0155)		9	1439	-			389					A2A2T1|O95392	Missense_Mutation	SNP	ENST00000411638.2	37	c.1199C>T		1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	G	11.40	1.626996	0.28978	2.27E-4	0.0	ENSG00000185049	ENST00000382882;ENST00000416258;ENST00000542778;ENST00000411638	T;T;T;T	0.52526	0.66;0.66;0.66;0.66	5.17	4.32	0.51571	.	0.603603	0.17363	N	0.176969	T	0.35098	0.0920	L	0.31664	0.95	0.22851	N	0.99866	B	0.26400	0.148	B	0.22386	0.039	T	0.13415	-1.0510	10	0.22109	T	0.4	-0.8075	13.4044	0.60903	0.0761:0.0:0.9238:0.0	.	389	Q9H3P2	NELFA_HUMAN	V	400;393;254;389	ENSP00000372335:A400V;ENSP00000387647:A393V;ENSP00000445757:A254V;ENSP00000399165:A389V	ENSP00000372335:A400V	A	-	2	0	WHSC2	1955509	0.996000	0.38824	0.009000	0.14445	0.227000	0.25037	7.499000	0.81566	1.179000	0.42884	0.455000	0.32223	GCG		0.716	NELFA-015	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000473007.1		NM_005663		3	34	0	0	0	0.014758	0	3	34		
ADH6	130	broad.mit.edu	37	4	100137347	100137347	+	Missense_Mutation	SNP	G	G	T			TCGA-CF-A3MH-01A-11D-A20D-08	TCGA-CF-A3MH-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8867b16f-cd05-41e9-b3ca-4c72a1ebeb70	8ad1181e-2e1d-40cb-a18d-9240b5ab1733	g.chr4:100137347G>T	ENST00000237653.7	-	2	475	c.91C>A	c.(91-93)Cca>Aca	p.P31T	ADH6_ENST00000394899.2_Missense_Mutation_p.P31T|ADH6_ENST00000394897.1_Missense_Mutation_p.P31T|RP11-696N14.1_ENST00000500358.2_RNA|RP11-696N14.1_ENST00000506160.1_RNA|ADH6_ENST00000407820.2_5'UTR|RP11-696N14.1_ENST00000506454.1_RNA	NM_000672.3	NP_000663	P28332	ADH6_HUMAN	alcohol dehydrogenase 6 (class V)	31					ethanol oxidation (GO:0006069)|response to ethanol (GO:0045471)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	alcohol dehydrogenase (NAD) activity (GO:0004022)|alcohol dehydrogenase activity, zinc-dependent (GO:0004024)|ethanol binding (GO:0035276)|zinc ion binding (GO:0008270)			breast(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(2)	20				OV - Ovarian serous cystadenocarcinoma(123;3.58e-08)	Abacavir(DB01048)	GCCTTTGGTGGGGCCACTTCT	0.403																																						uc003hup.3		NaN																	0				ovary(1)|kidney(1)|skin(1)	3						c.(91-93)CCA>ACA		class V alcohol dehydrogenase isoform 2	Abacavir(DB01048)|NADH(DB00157)						76.0	78.0	78.0					4																	100137347		2203	4300	6503	SO:0001583	missense	130				ethanol oxidation|response to ethanol|xenobiotic metabolic process	cytosol	alcohol dehydrogenase (NAD) activity|electron carrier activity|zinc ion binding	g.chr4:100137347G>T	AK092768	CCDS3647.1, CCDS43255.1	4q23	2008-02-05			ENSG00000172955	ENSG00000172955	1.1.1.1	"""Alcohol dehydrogenases"""	255	protein-coding gene	gene with protein product		103735				1881901	Standard	NM_000672		Approved	ADH-5	uc003huo.2	P28332	OTTHUMG00000131024	ENST00000237653.7:c.91C>A	4.37:g.100137347G>T	ENSP00000237653:p.Pro31Thr					uc003hum.1_Intron|ADH6_uc003huo.2_Missense_Mutation_p.P31T|ADH6_uc011cef.1_5'UTR|ADH6_uc010ile.2_Missense_Mutation_p.P31T	p.P31T	NM_000672	NP_000663	P28332	ADH6_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;3.58e-08)	2	185	-			31					B3KS45|Q58F53	Missense_Mutation	SNP	ENST00000237653.7	37	c.91C>A	CCDS3647.1	.	.	.	.	.	.	.	.	.	.	G	15.12	2.737801	0.49045	.	.	ENSG00000172955	ENST00000394897;ENST00000394899;ENST00000237653;ENST00000508558	T;T;T;T	0.03745	3.82;3.82;3.82;3.82	3.58	2.73	0.32206	GroES-like (1);	0.192111	0.46758	D	0.000276	T	0.23688	0.0573	H	0.94886	3.595	0.80722	D	1	D;D;D	0.89917	0.999;0.999;1.0	D;D;D	0.87578	0.981;0.986;0.998	T	0.06588	-1.0818	10	0.87932	D	0	-4.7945	10.7797	0.46371	0.0974:0.0:0.9026:0.0	.	31;31;31	E9PBI1;P28332;P28332-2	.;ADH6_HUMAN;.	T	31	ENSP00000378358:P31T;ENSP00000378359:P31T;ENSP00000237653:P31T;ENSP00000426187:P31T	ENSP00000237653:P31T	P	-	1	0	ADH6	100356370	1.000000	0.71417	0.884000	0.34674	0.489000	0.33432	6.408000	0.73285	0.614000	0.30107	0.196000	0.17591	CCA		0.403	ADH6-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000253665.1		NM_000672		32	45	1	0	6.45866e-13	0.104719	7.06416e-13	32	45		
F11	2160	broad.mit.edu	37	4	187209661	187209661	+	Missense_Mutation	SNP	G	G	A			TCGA-CF-A3MH-01A-11D-A20D-08	TCGA-CF-A3MH-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8867b16f-cd05-41e9-b3ca-4c72a1ebeb70	8ad1181e-2e1d-40cb-a18d-9240b5ab1733	g.chr4:187209661G>A	ENST00000403665.2	+	15	2123	c.1771G>A	c.(1771-1773)Ggc>Agc	p.G591S	F11-AS1_ENST00000505103.1_RNA|F11_ENST00000264692.4_Missense_Mutation_p.G539S	NM_000128.3	NP_000119.1	P03951	FA11_HUMAN	coagulation factor XI	591	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|plasminogen activation (GO:0031639)|positive regulation of fibrinolysis (GO:0051919)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)|serine-type aminopeptidase activity (GO:0070009)|serine-type endopeptidase activity (GO:0004252)			NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(15)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	32		all_cancers(14;6.2e-52)|all_epithelial(14;1.62e-38)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Colorectal(36;0.0161)|all_neural(102;0.202)		OV - Ovarian serous cystadenocarcinoma(60;2.13e-11)|BRCA - Breast invasive adenocarcinoma(30;4.59e-06)|GBM - Glioblastoma multiforme(59;0.000149)|STAD - Stomach adenocarcinoma(60;0.000314)|LUSC - Lung squamous cell carcinoma(40;0.00112)|READ - Rectum adenocarcinoma(43;0.176)	Coagulation Factor IX(DB00100)	GCATCTGGTAGGCATCACGAG	0.552																																						uc003iza.1		NaN																	0					0						c.(1771-1773)GGC>AGC		coagulation factor XI precursor	Coagulation Factor IX(DB00100)						169.0	164.0	166.0					4																	187209661		2203	4300	6503	SO:0001583	missense	2160				blood coagulation, intrinsic pathway|plasminogen activation|positive regulation of fibrinolysis	extracellular space|plasma membrane	heparin binding|serine-type endopeptidase activity	g.chr4:187209661G>A	M13142	CCDS3847.1	4q35	2008-08-01	2008-08-01		ENSG00000088926	ENSG00000088926	3.4.21.27		3529	protein-coding gene	gene with protein product	"""plasma thromboplastin antecedent"""	264900					Standard	NM_000128		Approved	FXI	uc003iza.1	P03951	OTTHUMG00000150311	ENST00000403665.2:c.1771G>A	4.37:g.187209661G>A	ENSP00000384957:p.Gly591Ser					uc003izb.1_RNA	p.G591S	NM_000128	NP_000119	P03951	FA11_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;2.13e-11)|BRCA - Breast invasive adenocarcinoma(30;4.59e-06)|GBM - Glioblastoma multiforme(59;0.000149)|STAD - Stomach adenocarcinoma(60;0.000314)|LUSC - Lung squamous cell carcinoma(40;0.00112)|READ - Rectum adenocarcinoma(43;0.176)	15	2104	+		all_cancers(14;6.2e-52)|all_epithelial(14;1.62e-38)|all_lung(41;1.34e-13)|Lung NSC(41;3.58e-13)|Melanoma(20;1.91e-06)|Hepatocellular(41;0.00886)|Renal(120;0.00988)|Prostate(90;0.00996)|all_hematologic(60;0.014)|Colorectal(36;0.0161)|all_neural(102;0.202)	591			Peptidase S1.		D3DP64|Q4W5C2|Q9Y495	Missense_Mutation	SNP	ENST00000403665.2	37	c.1771G>A	CCDS3847.1	.	.	.	.	.	.	.	.	.	.	G	34	5.390784	0.95988	.	.	ENSG00000088926	ENST00000403665;ENST00000264692	D;D	0.99532	-6.1;-6.1	5.05	5.05	0.67936	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.000000	0.85682	D	0.000000	D	0.99869	0.9938	H	0.99800	4.79	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96215	0.9156	10	0.87932	D	0	.	19.0236	0.92923	0.0:0.0:1.0:0.0	.	591	P03951	FA11_HUMAN	S	591;539	ENSP00000384957:G591S;ENSP00000264692:G539S	ENSP00000264692:G539S	G	+	1	0	F11	187446655	1.000000	0.71417	1.000000	0.80357	0.682000	0.39822	9.197000	0.94985	2.793000	0.96121	0.549000	0.68633	GGC		0.552	F11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317519.4				53	82	0	0	0	0.139131	0	53	82		
PSMB9	5698	broad.mit.edu	37	6	32825140	32825140	+	Missense_Mutation	SNP	G	G	A	rs200828307		TCGA-CF-A3MH-01A-11D-A20D-08	TCGA-CF-A3MH-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8867b16f-cd05-41e9-b3ca-4c72a1ebeb70	8ad1181e-2e1d-40cb-a18d-9240b5ab1733	g.chr6:32825140G>A	ENST00000374859.2	+	3	298	c.229G>A	c.(229-231)Gac>Aac	p.D77N	PSMB9_ENST00000453265.2_Intron|PSMB9_ENST00000395330.1_Missense_Mutation_p.D54N	NM_002800.4	NP_002791.1	P28065	PSB9_HUMAN	proteasome (prosome, macropain) subunit, beta type, 9	77					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|proteasome complex (GO:0000502)|proteasome core complex (GO:0005839)|spermatoproteasome complex (GO:1990111)	threonine-type endopeptidase activity (GO:0004298)			large_intestine(4)|lung(4)|skin(1)	9					Carfilzomib(DB08889)	AGCCGTGGCCGACATGGCCGC	0.602													G|||	1	0.000199681	0.0	0.0	5008	,	,		15956	0.0		0.001	False		,,,				2504	0.0					uc003sga.2		NaN																	0					0						c.(193-195)GAC>AAC		proteasome beta 9 subunit isoform 2 proprotein							71.0	63.0	66.0					6																	32825140		1510	2708	4218	SO:0001583	missense	5698				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome core complex	threonine-type endopeptidase activity	g.chr6:32825140G>A		CCDS4759.1	6p21.3	2013-03-27	2013-03-27		ENSG00000240065	ENSG00000240065		"""Proteasome (prosome, macropain) subunits"""	9546	protein-coding gene	gene with protein product		177045	"""proteasome (prosome, macropain) subunit, beta type, 9 (large multifunctional protease 2)"", ""large multifunctional peptidase 2"""	LMP2		1922385, 1529427	Standard	NM_002800		Approved	RING12, beta1i, PSMB6i	uc003sga.3	P28065	OTTHUMG00000031287	ENST00000374859.2:c.229G>A	6.37:g.32825140G>A	ENSP00000363993:p.Asp77Asn					PSMB9_uc011dqj.1_Intron	p.D65N	NM_148954	NP_683756	P28065	PSB9_HUMAN			4	268	+			77					B0V0T1|Q16523|Q5JNW4	Missense_Mutation	SNP	ENST00000374859.2	37	c.193G>A	CCDS4759.1	.	.	.	.	.	.	.	.	.	.	G	36	5.883903	0.97062	.	.	ENSG00000240065	ENST00000395330;ENST00000414474;ENST00000374859	T;T;T	0.34859	1.34;1.34;1.34	5.69	5.69	0.88448	.	0.101912	0.64402	D	0.000003	T	0.45538	0.1347	M	0.64676	1.99	0.80722	D	1	D	0.69078	0.997	P	0.57009	0.811	T	0.44559	-0.9320	10	0.87932	D	0	-22.764	17.3088	0.87202	0.0:0.0:1.0:0.0	.	77	P28065	PSB9_HUMAN	N	54;54;77	ENSP00000378739:D54N;ENSP00000394363:D54N;ENSP00000363993:D77N	ENSP00000363993:D77N	D	+	1	0	PSMB9	32933118	1.000000	0.71417	0.961000	0.40146	0.989000	0.77384	8.311000	0.89973	2.698000	0.92095	0.643000	0.83706	GAC		0.602	PSMB9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076624.5		NM_002800		4	44	0	0	0	0.014758	0	4	44		
THEMIS	387357	broad.mit.edu	37	6	128040858	128040858	+	Missense_Mutation	SNP	G	G	T	rs373253093		TCGA-CF-A3MH-01A-11D-A20D-08	TCGA-CF-A3MH-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8867b16f-cd05-41e9-b3ca-4c72a1ebeb70	8ad1181e-2e1d-40cb-a18d-9240b5ab1733	g.chr6:128040858G>T	ENST00000368248.2	-	5	2017	c.1869C>A	c.(1867-1869)agC>agA	p.S623R	THEMIS_ENST00000537166.1_Missense_Mutation_p.S588R|THEMIS_ENST00000543064.1_Missense_Mutation_p.S662R|THEMIS_ENST00000368250.1_Missense_Mutation_p.S544R	NM_001010923.2	NP_001010923.1	Q8N1K5	THMS1_HUMAN	thymocyte selection associated	623					negative T cell selection (GO:0043383)|positive T cell selection (GO:0043368)|T cell receptor signaling pathway (GO:0050852)	cell-cell junction (GO:0005911)|COP9 signalosome (GO:0008180)|cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(3)	60						CCCCACGGTTGCTCCTTTCTT	0.438																																						uc003qbi.2		NaN																	0				ovary(2)|skin(2)	4						c.(1867-1869)AGC>AGA		thymocyte selection pathway associated isoform		G	ARG/SER,ARG/SER,ARG/SER	0,4406		0,0,2203	204.0	178.0	187.0		1869,1986,1764	-1.1	0.0	6		187	2,8598	2.2+/-6.3	0,2,4298	no	missense,missense,missense	THEMIS	NM_001010923.2,NM_001164685.1,NM_001164687.1	110,110,110	0,2,6501	TT,TG,GG		0.0233,0.0,0.0154	benign,benign,benign	623/642,662/681,588/607	128040858	2,13004	2203	4300	6503	SO:0001583	missense	387357				negative T cell selection|positive T cell selection|T cell receptor signaling pathway	cytoplasm|nucleus		g.chr6:128040858G>T	AK094863	CCDS34534.1, CCDS55055.1	6q22.33	2012-02-08	2009-06-25	2009-06-25	ENSG00000172673	ENSG00000172673			21569	protein-coding gene	gene with protein product	"""thymocyte expressed molecule involved in selection"""	613607	"""chromosome 6 open reading frame 207"", ""chromosome 6 open reading frame 190"", ""thymocyte selection pathway associated"""	C6orf207, C6orf190, TSEPA		19597499, 19597498, 19597497	Standard	NM_001010923		Approved	bA325O24.4, FLJ40584, bA325O24.3	uc011ebt.2	Q8N1K5	OTTHUMG00000015534	ENST00000368248.2:c.1869C>A	6.37:g.128040858G>T	ENSP00000357231:p.Ser623Arg					THEMIS_uc010kfa.2_Missense_Mutation_p.S526R|THEMIS_uc011ebt.1_Missense_Mutation_p.S662R|THEMIS_uc010kfb.2_Missense_Mutation_p.S588R	p.S623R	NM_001010923	NP_001010923	Q8N1K5	THMS1_HUMAN			6	2188	-			623					A1L4F0|A8K7N1|B3KT31|B3KW32|B3KY07|F5H1J9|Q5T3C4|Q5T3C5|Q6MZT7	Missense_Mutation	SNP	ENST00000368248.2	37	c.1869C>A	CCDS34534.1	.	.	.	.	.	.	.	.	.	.	G	9.771	1.172795	0.21704	0.0	2.33E-4	ENSG00000172673	ENST00000368250;ENST00000543064;ENST00000368248;ENST00000537166	T;T;T;T	0.20881	2.15;2.04;2.15;2.15	6.05	-1.1	0.09872	.	0.685385	0.14502	N	0.315695	T	0.02888	0.0086	N	0.22421	0.69	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.06405	0.002;0.0	T	0.41945	-0.9480	10	0.28530	T	0.3	0.0397	1.9192	0.03303	0.1619:0.1182:0.3401:0.3798	.	662;623	F5H1J9;Q8N1K5	.;THMS1_HUMAN	R	544;662;623;588	ENSP00000357233:S544R;ENSP00000439594:S662R;ENSP00000357231:S623R;ENSP00000439863:S588R	ENSP00000357231:S623R	S	-	3	2	THEMIS	128082551	0.023000	0.18921	0.012000	0.15200	0.007000	0.05969	0.154000	0.16343	-0.122000	0.11766	-0.284000	0.09977	AGC		0.438	THEMIS-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding			NM_001010923		40	47	1	0	2.52991e-16	0.139131	2.81101e-16	40	47		
SLC18B1	116843	broad.mit.edu	37	6	133111328	133111328	+	Silent	SNP	T	T	C			TCGA-CF-A3MH-01A-11D-A20D-08	TCGA-CF-A3MH-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8867b16f-cd05-41e9-b3ca-4c72a1ebeb70	8ad1181e-2e1d-40cb-a18d-9240b5ab1733	g.chr6:133111328T>C	ENST00000275227.4	-	3	363	c.267A>G	c.(265-267)gtA>gtG	p.V89V	SLC18B1_ENST00000538764.1_Missense_Mutation_p.I13V|SLC18B1_ENST00000367918.1_Intron|SLC18B1_ENST00000460518.1_5'UTR	NM_052831.2	NP_439896.1	Q6NT16	S18B1_HUMAN	solute carrier family 18, subfamily B, member 1	89					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)											AGTTTCCAAATACCAAGGATG	0.313																																						uc003qdw.1		NaN																	0				ovary(1)	1						c.(265-267)GTA>GTG		hypothetical protein LOC116843							62.0	60.0	60.0					6																	133111328		2196	4297	6493	SO:0001819	synonymous_variant	116843				transmembrane transport	integral to membrane		g.chr6:133111328T>C	AK124442	CCDS5163.1	6q22.3-q23.3	2013-05-22	2012-03-09	2012-03-09	ENSG00000146409	ENSG00000146409		"""Solute carriers"""	21573	protein-coding gene	gene with protein product		613361	"""chromosome 6 open reading frame 192"""	C6orf192		19697161	Standard	XM_006715328		Approved	dJ55C23.6	uc003qdw.1	Q6NT16	OTTHUMG00000015595	ENST00000275227.4:c.267A>G	6.37:g.133111328T>C						C6orf192_uc011eco.1_Missense_Mutation_p.I13V	p.V89V	NM_052831	NP_439896	Q6NT16	CF192_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;0.00303)|GBM - Glioblastoma multiforme(226;0.0265)	3	419	-			89			Helical; (Potential).		A8K1K3|B3KW77|Q6ISF2	Silent	SNP	ENST00000275227.4	37	c.267A>G	CCDS5163.1	.	.	.	.	.	.	.	.	.	.	T	7.158	0.585041	0.13749	.	.	ENSG00000146409	ENST00000538764	T	0.29397	1.57	5.18	-3.54	0.04653	.	.	.	.	.	T	0.03651	0.0104	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.39881	-0.9592	7	.	.	.	-1.4567	1.139	0.01761	0.2035:0.3064:0.2648:0.2253	.	13	B7Z1S5	.	V	13	ENSP00000444098:I13V	.	I	-	1	0	C6orf192	133153021	0.101000	0.21875	0.203000	0.23512	0.644000	0.38419	-0.683000	0.05179	-0.838000	0.04218	0.533000	0.62120	ATT		0.313	SLC18B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042273.1		NM_052831		5	6	0	0	0	0.014758	0	5	6		
PCLO	27445	broad.mit.edu	37	7	82451883	82451883	+	Missense_Mutation	SNP	T	T	C	rs555710577		TCGA-CF-A3MH-01A-11D-A20D-08	TCGA-CF-A3MH-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8867b16f-cd05-41e9-b3ca-4c72a1ebeb70	8ad1181e-2e1d-40cb-a18d-9240b5ab1733	g.chr7:82451883T>C	ENST00000333891.9	-	20	15056	c.14719A>G	c.(14719-14721)Acc>Gcc	p.T4907A	PCLO_ENST00000423517.2_Missense_Mutation_p.T4907A|PCLO_ENST00000426442.2_5'UTR	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						TCCAGGTGGGTCTGAGTGACG	0.502																																						uc003uhx.2		NaN																	0				ovary(7)	7						c.(14719-14721)ACC>GCC		piccolo isoform 1							173.0	189.0	184.0					7																	82451883		2084	4217	6301	SO:0001583	missense	27445				cytoskeleton organization|synaptic vesicle exocytosis	cell junction|cytoskeleton|synaptic vesicle	calcium ion binding|calcium-dependent phospholipid binding|profilin binding|transporter activity	g.chr7:82451883T>C	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.14719A>G	7.37:g.82451883T>C	ENSP00000334319:p.Thr4907Ala					PCLO_uc003uhv.2_Missense_Mutation_p.T4907A|PCLO_uc003uht.1_Missense_Mutation_p.T349A|PCLO_uc003uhu.1_Missense_Mutation_p.T328A	p.T4907A	NM_033026	NP_149015	Q9Y6V0	PCLO_HUMAN			20	15008	-			4769						Missense_Mutation	SNP	ENST00000333891.9	37	c.14719A>G	CCDS47630.1	.	.	.	.	.	.	.	.	.	.	T	12.58	1.981233	0.34942	.	.	ENSG00000186472	ENST00000333891;ENST00000423517;ENST00000380195	T;T	0.15718	2.4;2.4	5.35	3.0	0.34707	.	.	.	.	.	T	0.11239	0.0274	N	0.19112	0.55	0.80722	D	1	B;B;B;B	0.11235	0.004;0.004;0.0;0.0	B;B;B;B	0.09377	0.004;0.004;0.001;0.0	T	0.08006	-1.0743	9	0.87932	D	0	.	9.1478	0.36944	0.0:0.1473:0.0:0.8527	.	4907;4907;328;395	Q9Y6V0-5;Q9Y6V0-6;Q9Y6V0-3;Q32P40	.;.;.;.	A	4907;4907;394	ENSP00000334319:T4907A;ENSP00000388393:T4907A	ENSP00000334319:T4907A	T	-	1	0	PCLO	82289819	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.275000	0.51639	0.366000	0.24427	0.533000	0.62120	ACC		0.502	PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5		NM_014510		77	165	0	0	0	0.139131	0	77	165		
TNFRSF10A	8797	broad.mit.edu	37	8	23056899	23056899	+	Missense_Mutation	SNP	C	C	G			TCGA-CF-A3MH-01A-11D-A20D-08	TCGA-CF-A3MH-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8867b16f-cd05-41e9-b3ca-4c72a1ebeb70	8ad1181e-2e1d-40cb-a18d-9240b5ab1733	g.chr8:23056899C>G	ENST00000221132.3	-	8	958	c.894G>C	c.(892-894)gaG>gaC	p.E298D		NM_003844.3	NP_003835.3	O00220	TR10A_HUMAN	tumor necrosis factor receptor superfamily, member 10a	298					activation of NF-kappaB-inducing kinase activity (GO:0007250)|apoptotic process (GO:0006915)|cellular response to mechanical stimulus (GO:0071260)|extrinsic apoptotic signaling pathway (GO:0097191)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|signal transduction (GO:0007165)|TRAIL-activated apoptotic signaling pathway (GO:0036462)	integral component of membrane (GO:0016021)	death receptor activity (GO:0005035)|protease binding (GO:0002020)|receptor activity (GO:0004872)|TRAIL binding (GO:0045569)|transcription factor binding (GO:0008134)			NS(2)|central_nervous_system(3)|endometrium(2)|large_intestine(3)|lung(1)|ovary(3)|prostate(1)|skin(1)	16		Prostate(55;0.0421)|Breast(100;0.14)		Colorectal(74;0.016)|COAD - Colon adenocarcinoma(73;0.0646)		TGCTCAGAATCTCGTTGTGAG	0.562																																						uc003xda.2		NaN																	0				central_nervous_system(3)|ovary(2)|skin(1)	6						c.(892-894)GAG>GAC		tumor necrosis factor receptor superfamily,							98.0	95.0	96.0					8																	23056899		2203	4300	6503	SO:0001583	missense	8797				activation of NF-kappaB-inducing kinase activity|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors		caspase activator activity|death receptor activity|TRAIL binding|transcription factor binding	g.chr8:23056899C>G	U90875	CCDS6039.1	8p21	2006-02-22			ENSG00000104689	ENSG00000104689		"""Tumor necrosis factor receptor superfamily"", ""CD molecules"""	11904	protein-coding gene	gene with protein product		603611				9311998, 9082980	Standard	NM_003844		Approved	DR4, Apo2, TRAILR-1, CD261	uc003xda.3	O00220	OTTHUMG00000097843	ENST00000221132.3:c.894G>C	8.37:g.23056899C>G	ENSP00000221132:p.Glu298Asp						p.E298D	NM_003844	NP_003835	O00220	TR10A_HUMAN		Colorectal(74;0.016)|COAD - Colon adenocarcinoma(73;0.0646)	8	959	-		Prostate(55;0.0421)|Breast(100;0.14)	298			Cytoplasmic (Potential).		A8K5I4|Q53Y72|Q96E62	Missense_Mutation	SNP	ENST00000221132.3	37	c.894G>C	CCDS6039.1	.	.	.	.	.	.	.	.	.	.	C	10.82	1.459339	0.26248	.	.	ENSG00000104689	ENST00000221132	D	0.85629	-2.01	3.55	2.65	0.31530	.	17.099000	0.00166	U	0.000003	D	0.82870	0.5131	L	0.57536	1.79	0.09310	N	1	P	0.43094	0.799	B	0.35182	0.197	T	0.69917	-0.5015	10	0.62326	D	0.03	.	9.2464	0.37529	0.0:0.7424:0.2576:0.0	.	298	O00220	TR10A_HUMAN	D	298	ENSP00000221132:E298D	ENSP00000221132:E298D	E	-	3	2	TNFRSF10A	23112844	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	0.045000	0.14013	0.737000	0.32582	0.591000	0.81541	GAG		0.562	TNFRSF10A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215133.2		NM_003844		67	11	0	0	0	0.139131	0	67	11		
FAM110B	90362	broad.mit.edu	37	8	59059268	59059268	+	Missense_Mutation	SNP	C	C	T			TCGA-CF-A3MH-01A-11D-A20D-08	TCGA-CF-A3MH-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8867b16f-cd05-41e9-b3ca-4c72a1ebeb70	8ad1181e-2e1d-40cb-a18d-9240b5ab1733	g.chr8:59059268C>T	ENST00000361488.3	+	5	1359	c.479C>T	c.(478-480)gCg>gTg	p.A160V	FAM110B_ENST00000520369.1_Intron	NM_147189.2	NP_671722.1	Q8TC76	F110B_HUMAN	family with sequence similarity 110, member B	160						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				breast(1)|endometrium(3)|kidney(1)|large_intestine(10)|lung(9)|skin(2)	26		all_epithelial(80;0.025)|all_lung(136;0.0274)|Lung NSC(129;0.0355)				CACTCCTTCGCGGAGTCCCTG	0.697																																						uc003xtj.1		NaN																	0				large_intestine(1)	1						c.(478-480)GCG>GTG		hypothetical protein LOC90362							19.0	20.0	20.0					8																	59059268		2203	4299	6502	SO:0001583	missense	90362					microtubule organizing center|mitochondrion|nucleus		g.chr8:59059268C>T	U79298	CCDS6170.1	8q12.1	2007-06-21	2007-03-21	2007-03-21		ENSG00000169122			28587	protein-coding gene	gene with protein product		611394	"""chromosome 8 open reading frame 72"""	C8orf72		8619474, 9110174, 17499476	Standard	XM_005251324		Approved	MGC39325	uc003xtj.1	Q8TC76		ENST00000361488.3:c.479C>T	8.37:g.59059268C>T	ENSP00000355204:p.Ala160Val						p.A160V	NM_147189	NP_671722	Q8TC76	F110B_HUMAN			5	1359	+		all_epithelial(80;0.025)|all_lung(136;0.0274)|Lung NSC(129;0.0355)	160					Q5BM08|Q9Y4K2	Missense_Mutation	SNP	ENST00000361488.3	37	c.479C>T	CCDS6170.1	.	.	.	.	.	.	.	.	.	.	C	17.49	3.402492	0.62288	.	.	ENSG00000169122	ENST00000361488	T	0.32515	1.45	5.49	5.49	0.81192	.	0.197692	0.44902	D	0.000414	T	0.23649	0.0572	L	0.29908	0.895	0.58432	D	0.999993	D	0.53462	0.96	B	0.37601	0.254	T	0.02477	-1.1153	9	.	.	.	-26.441	19.3514	0.94389	0.0:1.0:0.0:0.0	.	160	Q8TC76	F110B_HUMAN	V	160	ENSP00000355204:A160V	.	A	+	2	0	FAM110B	59221822	0.999000	0.42202	0.997000	0.53966	0.797000	0.45037	4.349000	0.59385	2.585000	0.87301	0.561000	0.74099	GCG		0.697	FAM110B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378095.2		NM_147189		5	18	0	0	0	0.014758	0	5	18		
PREX2	80243	broad.mit.edu	37	8	68950493	68950493	+	Missense_Mutation	SNP	G	G	A			TCGA-CF-A3MH-01A-11D-A20D-08	TCGA-CF-A3MH-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8867b16f-cd05-41e9-b3ca-4c72a1ebeb70	8ad1181e-2e1d-40cb-a18d-9240b5ab1733	g.chr8:68950493G>A	ENST00000288368.4	+	7	1082	c.805G>A	c.(805-807)Gat>Aat	p.D269N	PREX2_ENST00000529398.1_3'UTR	NM_024870.2|NM_025170.4	NP_079146.2|NP_079446.3	Q70Z35	PREX2_HUMAN	phosphatidylinositol-3,4,5-trisphosphate-dependent Rac exchange factor 2	269	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				adult locomotory behavior (GO:0008344)|dendrite morphogenesis (GO:0048813)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|positive regulation of Rac GTPase activity (GO:0032855)		Rac GTPase activator activity (GO:0030675)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)			NS(6)|biliary_tract(1)|breast(4)|endometrium(11)|kidney(16)|large_intestine(25)|liver(4)|lung(57)|ovary(2)|pancreas(4)|prostate(3)|skin(42)|upper_aerodigestive_tract(1)|urinary_tract(2)	178						TTTTCTTTTCGATAATCTTTT	0.418																																						uc003xxv.1		NaN																	0				skin(6)|large_intestine(4)|pancreas(3)|lung(2)|ovary(1)|kidney(1)	17						c.(805-807)GAT>AAT		DEP domain containing 2 isoform a							84.0	81.0	82.0					8																	68950493		2203	4300	6503	SO:0001583	missense	80243				G-protein coupled receptor protein signaling pathway|intracellular signal transduction	intracellular	protein binding|Rac GTPase activator activity|Rac guanyl-nucleotide exchange factor activity	g.chr8:68950493G>A	AK024079	CCDS6201.1	8q13.1	2014-06-13	2008-09-15	2008-09-15	ENSG00000046889	ENSG00000046889		"""Rho guanine nucleotide exchange factors"""	22950	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 129"""	612139	"""DEP domain containing 2"""	DEPDC2		15304342, 15304343	Standard	NM_024870		Approved	DEP.2, FLJ12987, P-REX2, PPP1R129	uc003xxv.1	Q70Z35	OTTHUMG00000164402	ENST00000288368.4:c.805G>A	8.37:g.68950493G>A	ENSP00000288368:p.Asp269Asn					PREX2_uc003xxu.1_Missense_Mutation_p.D269N|PREX2_uc011lez.1_Missense_Mutation_p.D204N	p.D269N	NM_024870	NP_079146	Q70Z35	PREX2_HUMAN			7	832	+			269			PH.		B4DFX0|Q32KL0|Q32KL1|Q6R7Q3|Q6R7Q4|Q9H805|Q9H961	Missense_Mutation	SNP	ENST00000288368.4	37	c.805G>A	CCDS6201.1	.	.	.	.	.	.	.	.	.	.	G	33	5.241878	0.95272	.	.	ENSG00000046889	ENST00000288368;ENST00000396539;ENST00000354677	D	0.88896	-2.44	5.62	5.62	0.85841	Pleckstrin homology-type (1);Pleckstrin homology domain (2);	0.000000	0.85682	D	0.000000	D	0.92485	0.7614	L	0.41236	1.265	0.80722	D	1	D;D;D	0.89917	1.0;0.998;1.0	D;P;D	0.83275	0.996;0.861;0.988	D	0.92733	0.6201	10	0.62326	D	0.03	.	19.6621	0.95877	0.0:0.0:1.0:0.0	.	269;269;269	Q70Z35-2;Q70Z35;Q70Z35-3	.;PREX2_HUMAN;.	N	269	ENSP00000288368:D269N	ENSP00000288368:D269N	D	+	1	0	PREX2	69113047	1.000000	0.71417	0.982000	0.44146	0.806000	0.45545	9.729000	0.98795	2.650000	0.89964	0.655000	0.94253	GAT		0.418	PREX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378620.1		NM_025170		21	57	0	0	0	0.083992	0	21	57		
TMEM55A	55529	broad.mit.edu	37	8	92008912	92008912	+	Missense_Mutation	SNP	C	C	T			TCGA-CF-A3MH-01A-11D-A20D-08	TCGA-CF-A3MH-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8867b16f-cd05-41e9-b3ca-4c72a1ebeb70	8ad1181e-2e1d-40cb-a18d-9240b5ab1733	g.chr8:92008912C>T	ENST00000285419.3	-	6	914	c.600G>A	c.(598-600)atG>atA	p.M200I		NM_018710.2	NP_061180.1	Q8N4L2	TM55A_HUMAN	transmembrane protein 55A	200						endosome (GO:0005768)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)	hydrolase activity (GO:0016787)	p.M200_G206delMICIFIG(1)		breast(1)|endometrium(2)|large_intestine(5)|lung(3)|prostate(1)|upper_aerodigestive_tract(1)	13			BRCA - Breast invasive adenocarcinoma(11;0.033)			AAATACATATCATTCCAATGG	0.393																																						uc003yes.2		NaN																	1	Deletion - In frame(1)		breast(1)		0						c.(598-600)ATG>ATA		transmembrane protein 55A							91.0	80.0	84.0					8																	92008912		2203	4300	6503	SO:0001583	missense	55529					integral to membrane|late endosome membrane|lysosomal membrane	hydrolase activity	g.chr8:92008912C>T	BC033892	CCDS6252.1	8q21.3	2005-08-09			ENSG00000155099	ENSG00000155099			25452	protein-coding gene	gene with protein product		609864				12477932	Standard	NM_018710		Approved	DKFZp762O076	uc003yes.3	Q8N4L2	OTTHUMG00000164019	ENST00000285419.3:c.600G>A	8.37:g.92008912C>T	ENSP00000285419:p.Met200Ile						p.M200I	NM_018710	NP_061180	Q8N4L2	TM55A_HUMAN	BRCA - Breast invasive adenocarcinoma(11;0.033)		6	826	-			200			Helical; (Potential).		B2R9H4|Q68CU2	Missense_Mutation	SNP	ENST00000285419.3	37	c.600G>A	CCDS6252.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.046882	0.75846	.	.	ENSG00000155099	ENST00000285419;ENST00000520014	.	.	.	5.96	4.11	0.48088	.	0.143081	0.85682	N	0.000000	T	0.36963	0.0986	N	0.05124	-0.11	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.06215	-1.0839	9	0.31617	T	0.26	-9.8169	15.2738	0.73726	0.2564:0.7436:0.0:0.0	.	200	Q8N4L2	TM55A_HUMAN	I	200;206	.	ENSP00000285419:M200I	M	-	3	0	TMEM55A	92078088	1.000000	0.71417	1.000000	0.80357	0.685000	0.39939	4.632000	0.61311	0.794000	0.33899	0.655000	0.94253	ATG		0.393	TMEM55A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376778.1		NM_018710		14	36	0	0	0	0.043863	0	14	36		
PDP1	54704	broad.mit.edu	37	8	94934837	94934837	+	Missense_Mutation	SNP	C	C	T			TCGA-CF-A3MH-01A-11D-A20D-08	TCGA-CF-A3MH-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8867b16f-cd05-41e9-b3ca-4c72a1ebeb70	8ad1181e-2e1d-40cb-a18d-9240b5ab1733	g.chr8:94934837C>T	ENST00000297598.4	+	2	819	c.550C>T	c.(550-552)Cgg>Tgg	p.R184W	PDP1_ENST00000396200.3_Missense_Mutation_p.R209W|PDP1_ENST00000520728.1_Missense_Mutation_p.R184W|PDP1_ENST00000517764.1_Missense_Mutation_p.R184W	NM_001161781.1|NM_018444.3	NP_001155253.1|NP_060914.2	Q9P0J1	PDP1_HUMAN	pyruvate dehyrogenase phosphatase catalytic subunit 1	184					cellular metabolic process (GO:0044237)|peptidyl-threonine dephosphorylation (GO:0035970)|pyruvate metabolic process (GO:0006090)|regulation of acetyl-CoA biosynthetic process from pyruvate (GO:0010510)|small molecule metabolic process (GO:0044281)	mitochondrial matrix (GO:0005759)	[pyruvate dehydrogenase (lipoamide)] phosphatase activity (GO:0004741)|metal ion binding (GO:0046872)|protein serine/threonine phosphatase activity (GO:0004722)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(4)|liver(1)|lung(5)|ovary(1)|pancreas(1)|skin(2)	18						GGAGAGCGGCCGGGCACTGCT	0.453																																						uc003yge.2		NaN																	0				ovary(1)|skin(1)|central_nervous_system(1)|pancreas(1)	4						c.(550-552)CGG>TGG		pyruvate dehyrogenase phosphatase catalytic							60.0	57.0	58.0					8																	94934837		2203	4300	6503	SO:0001583	missense	54704				pyruvate metabolic process|regulation of acetyl-CoA biosynthetic process from pyruvate	mitochondrial matrix|protein serine/threonine phosphatase complex	[pyruvate dehydrogenase (lipoamide)] phosphatase activity	g.chr8:94934837C>T	AF155661	CCDS6259.1, CCDS55262.1	8q22.1	2012-04-17	2009-06-12	2009-06-12	ENSG00000164951	ENSG00000164951	3.1.3.43	"""Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"""	9279	protein-coding gene	gene with protein product		605993	"""protein phosphatase 2C, magnesium-dependent, catalytic subunit"""	PPM2C		8396421	Standard	NM_001161779		Approved	PDP, PDH	uc003ygf.3	Q9P0J1		ENST00000297598.4:c.550C>T	8.37:g.94934837C>T	ENSP00000297598:p.Arg184Trp					PDP1_uc003ygf.2_Missense_Mutation_p.R209W|PDP1_uc010max.2_Missense_Mutation_p.R209W|PDP1_uc011lgm.1_Missense_Mutation_p.R184W|PDP1_uc011lgn.1_Missense_Mutation_p.R243W	p.R184W	NM_018444	NP_060914	Q9P0J1	PDP1_HUMAN			2	819	+			184					B3KX71|J3KPU0|Q5U5K1	Missense_Mutation	SNP	ENST00000297598.4	37	c.550C>T	CCDS6259.1	.	.	.	.	.	.	.	.	.	.	C	14.20	2.463778	0.43736	.	.	ENSG00000164951	ENST00000297598;ENST00000520728;ENST00000396200;ENST00000517764;ENST00000518827	T;T;T;T	0.48522	0.82;0.82;0.81;0.82	6.16	4.38	0.52667	Protein phosphatase 2C-like (3);	0.058183	0.64402	D	0.000002	T	0.60521	0.2275	L	0.53249	1.67	0.54753	D	0.999989	D;D	0.89917	1.0;1.0	D;D	0.72338	0.977;0.977	T	0.61327	-0.7085	10	0.72032	D	0.01	-8.858	9.7451	0.40442	0.2982:0.6347:0.0:0.0672	.	235;184	B4DYX8;Q9P0J1	.;PDP1_HUMAN	W	184;184;209;184;184	ENSP00000297598:R184W;ENSP00000428317:R184W;ENSP00000379503:R209W;ENSP00000430380:R184W	ENSP00000297598:R184W	R	+	1	2	PDP1	95004013	0.731000	0.28111	0.939000	0.37840	0.965000	0.64279	1.465000	0.35299	0.929000	0.37192	-0.145000	0.13849	CGG		0.453	PDP1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000378415.2		NM_018444		29	49	0	0	0	0.144211	0	29	49		
PKHD1L1	93035	broad.mit.edu	37	8	110448690	110448690	+	Splice_Site	SNP	T	T	C			TCGA-CF-A3MH-01A-11D-A20D-08	TCGA-CF-A3MH-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8867b16f-cd05-41e9-b3ca-4c72a1ebeb70	8ad1181e-2e1d-40cb-a18d-9240b5ab1733	g.chr8:110448690T>C	ENST00000378402.5	+	30	3731		c.e30+2			NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1						immune response (GO:0006955)	cytosol (GO:0005829)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			ACACCAAAAGTAAGGCCTCTG	0.393										HNSCC(38;0.096)																												uc003yne.2		NaN																	0				ovary(9)|central_nervous_system(2)|large_intestine(1)|breast(1)|pancreas(1)	14						c.e30+2		fibrocystin L precursor							93.0	92.0	93.0					8																	110448690		1842	4096	5938	SO:0001630	splice_region_variant	93035				immune response	cytosol|extracellular space|integral to membrane	receptor activity	g.chr8:110448690T>C	AY219181	CCDS47911.1	8q23	2003-03-28			ENSG00000205038	ENSG00000205038			20313	protein-coding gene	gene with protein product		607843				12620974	Standard	NM_177531		Approved		uc003yne.3	Q86WI1	OTTHUMG00000164934	ENST00000378402.5:c.3627+2T>C	8.37:g.110448690T>C		HNSCC(38;0.096)					p.K1209_splice	NM_177531	NP_803875	Q86WI1	PKHL1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)		30	3731	+								Q567P2|Q9UF27	Splice_Site	SNP	ENST00000378402.5	37	c.3627_splice	CCDS47911.1	.	.	.	.	.	.	.	.	.	.	T	17.92	3.507227	0.64410	.	.	ENSG00000205038	ENST00000378402	.	.	.	5.54	5.54	0.83059	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.0811	0.53671	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	PKHD1L1	110517866	1.000000	0.71417	1.000000	0.80357	0.690000	0.40134	4.388000	0.59633	2.103000	0.63969	0.533000	0.62120	.		0.393	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381017.1		NM_177531	Intron	26	14	0	0	0	0.134883	0	26	14		
RANBP6	26953	broad.mit.edu	37	9	6012658	6012658	+	Missense_Mutation	SNP	T	T	G			TCGA-CF-A3MH-01A-11D-A20D-08	TCGA-CF-A3MH-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8867b16f-cd05-41e9-b3ca-4c72a1ebeb70	8ad1181e-2e1d-40cb-a18d-9240b5ab1733	g.chr9:6012658T>G	ENST00000259569.5	-	1	2960	c.2950A>C	c.(2950-2952)Ata>Cta	p.I984L	RANBP6_ENST00000485372.1_5'Flank	NM_001243202.1|NM_001243203.1|NM_012416.3	NP_001230131.1|NP_001230132.1|NP_036548.1	O60518	RNBP6_HUMAN	RAN binding protein 6	984					protein transport (GO:0015031)	cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.I984L(4)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(8)|kidney(5)|large_intestine(8)|lung(9)|ovary(7)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	51		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00522)|Lung(218;0.101)		ATCTTCCCTATTGCTGAGATA	0.363																																						uc003zjr.2		NaN																	4	Substitution - Missense(4)		lung(2)|endometrium(1)|kidney(1)	ovary(3)	3						c.(2950-2952)ATA>CTA		RAN binding protein 6							110.0	103.0	106.0					9																	6012658		2203	4300	6503	SO:0001583	missense	26953				protein transport	cytoplasm|nucleus	binding	g.chr9:6012658T>G	AF039023	CCDS6467.1	9p24.1	2008-03-26			ENSG00000137040	ENSG00000137040			9851	protein-coding gene	gene with protein product							Standard	NM_001243202		Approved		uc003zjr.3	O60518	OTTHUMG00000019512	ENST00000259569.5:c.2950A>C	9.37:g.6012658T>G	ENSP00000259569:p.Ile984Leu					RANBP6_uc011lmf.1_Missense_Mutation_p.I632L|RANBP6_uc003zjs.2_Missense_Mutation_p.I572L	p.I984L	NM_012416	NP_036548	O60518	RNBP6_HUMAN		GBM - Glioblastoma multiforme(50;0.00522)|Lung(218;0.101)	1	2961	-		Acute lymphoblastic leukemia(23;0.158)	984			HEAT 7.		Q5T7X4|Q7Z3V2|Q96E78	Missense_Mutation	SNP	ENST00000259569.5	37	c.2950A>C	CCDS6467.1	.	.	.	.	.	.	.	.	.	.	T	10.80	1.451466	0.26074	.	.	ENSG00000137040	ENST00000259569	T	0.08807	3.05	4.79	2.63	0.31362	Armadillo-like helical (1);Armadillo-type fold (1);	0.121890	0.53938	D	0.000050	T	0.03263	0.0095	N	0.11341	0.13	0.36993	D	0.894861	B;B;B	0.17268	0.021;0.012;0.021	B;B;B	0.16722	0.016;0.011;0.016	T	0.36648	-0.9739	10	0.06891	T	0.86	-4.4735	5.2001	0.15258	0.0:0.4849:0.0:0.5151	.	151;572;984	B4E340;B4DTX6;O60518	.;.;RNBP6_HUMAN	L	984	ENSP00000259569:I984L	ENSP00000259569:I984L	I	-	1	0	RANBP6	6002658	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	3.090000	0.50191	0.682000	0.31407	0.533000	0.62120	ATA		0.363	RANBP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051650.1		NM_012416		5	42	0	0	0	0.021553	0	5	42		
TLR7	51284	broad.mit.edu	37	X	12905875	12905875	+	Nonsense_Mutation	SNP	C	C	T	rs200283411		TCGA-CF-A3MH-01A-11D-A20D-08	TCGA-CF-A3MH-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8867b16f-cd05-41e9-b3ca-4c72a1ebeb70	8ad1181e-2e1d-40cb-a18d-9240b5ab1733	g.chrX:12905875C>T	ENST00000380659.3	+	3	2387	c.2248C>T	c.(2248-2250)Cga>Tga	p.R750*		NM_016562.3	NP_057646.1	Q9NYK1	TLR7_HUMAN	toll-like receptor 7	750					cellular response to mechanical stimulus (GO:0071260)|defense response to virus (GO:0051607)|I-kappaB phosphorylation (GO:0007252)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|microglial cell activation involved in immune response (GO:0002282)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|pathogen-associated molecular pattern dependent induction by symbiont of host innate immune response (GO:0052033)|positive regulation of chemokine production (GO:0032722)|positive regulation of inflammatory response (GO:0050729)|positive regulation of interferon-alpha biosynthetic process (GO:0045356)|positive regulation of interferon-beta biosynthetic process (GO:0045359)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 biosynthetic process (GO:0045416)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|toll-like receptor 7 signaling pathway (GO:0034154)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)	cytoplasm (GO:0005737)|early phagosome (GO:0032009)|endolysosome membrane (GO:0036020)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|endosome (GO:0005768)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	double-stranded RNA binding (GO:0003725)|drug binding (GO:0008144)|single-stranded RNA binding (GO:0003727)|siRNA binding (GO:0035197)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(4)|endometrium(5)|kidney(1)|large_intestine(8)|lung(18)|ovary(2)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	44					Hydroxychloroquine(DB01611)|Imiquimod(DB00724)	CTTCCAGTTGCGATATCTGGA	0.383																																						uc004cvc.2		NaN																	0				ovary(2)|lung(2)|breast(1)	5						c.(2248-2250)CGA>TGA		toll-like receptor 7 precursor	Imiquimod(DB00724)						66.0	65.0	65.0					X																	12905875		2203	4300	6503	SO:0001587	stop_gained	51284				cellular response to mechanical stimulus|defense response to virus|I-kappaB phosphorylation|inflammatory response|innate immune response|positive regulation of chemokine production|positive regulation of interferon-alpha biosynthetic process|positive regulation of interferon-beta biosynthetic process|positive regulation of interferon-gamma biosynthetic process|positive regulation of interleukin-8 biosynthetic process|positive regulation of interleukin-8 production|positive regulation of NF-kappaB import into nucleus	early phagosome|endoplasmic reticulum membrane|endosome membrane|integral to membrane|lysosome|plasma membrane	double-stranded RNA binding|single-stranded RNA binding|siRNA binding|transmembrane receptor activity	g.chrX:12905875C>T	AF240467	CCDS14151.1	Xp22.3	2008-02-05			ENSG00000196664	ENSG00000196664			15631	protein-coding gene	gene with protein product		300365				11022119	Standard	NM_016562		Approved		uc004cvc.3	Q9NYK1	OTTHUMG00000021137	ENST00000380659.3:c.2248C>T	X.37:g.12905875C>T	ENSP00000370034:p.Arg750*						p.R750*	NM_016562	NP_057646	Q9NYK1	TLR7_HUMAN			3	2387	+			750			Extracellular (Potential).|LRR 26.		D1CS69|Q9NR98	Nonsense_Mutation	SNP	ENST00000380659.3	37	c.2248C>T	CCDS14151.1	.	.	.	.	.	.	.	.	.	.	C	32	5.171852	0.94807	.	.	ENSG00000196664	ENST00000380659	.	.	.	5.66	2.62	0.31277	.	0.296412	0.29707	N	0.011401	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	7.1071	0.25370	0.5927:0.3124:0.0:0.0949	.	.	.	.	X	750	.	ENSP00000370034:R750X	R	+	1	2	TLR7	12815796	0.773000	0.28580	0.498000	0.27564	0.369000	0.29798	2.050000	0.41297	0.555000	0.29079	-0.351000	0.07748	CGA		0.383	TLR7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055769.1		NM_016562		7	53	0	0	0	0.02938	0	7	53		
CEP290	80184	broad.mit.edu	37	12	88512304	88512305	+	Frame_Shift_Ins	INS	-	-	T	rs77980773		TCGA-CF-A3MH-01A-11D-A20D-08	TCGA-CF-A3MH-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8867b16f-cd05-41e9-b3ca-4c72a1ebeb70	8ad1181e-2e1d-40cb-a18d-9240b5ab1733	g.chr12:88512304_88512305insT	ENST00000552810.1	-	17	2009_2010	c.1666_1667insA	c.(1666-1668)attfs	p.I556fs	CEP290_ENST00000309041.7_Frame_Shift_Ins_p.I558fs|CEP290_ENST00000397838.3_5'UTR	NM_025114.3	NP_079390.3	O15078	CE290_HUMAN	centrosomal protein 290kDa	556					cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|establishment or maintenance of cell polarity (GO:0007163)|eye photoreceptor cell development (GO:0042462)|G2/M transition of mitotic cell cycle (GO:0000086)|hindbrain development (GO:0030902)|mitotic cell cycle (GO:0000278)|otic vesicle formation (GO:0030916)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of transcription, DNA-templated (GO:0045893)|pronephros development (GO:0048793)|protein transport (GO:0015031)|regulation of cAMP metabolic process (GO:0030814)|regulation of establishment of protein localization (GO:0070201)|retina development in camera-type eye (GO:0060041)	centriolar satellite (GO:0034451)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|photoreceptor connecting cilium (GO:0032391)|protein complex (GO:0043234)|TCTN-B9D complex (GO:0036038)		p.I558fs*20(1)		breast(4)|central_nervous_system(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(20)|liver(1)|lung(18)|ovary(5)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	73						CATTTGACGAATTTTTTTTTTC	0.312																																						uc001tar.2		NaN																	1	Insertion - Frameshift(1)		central_nervous_system(1)	ovary(5)|breast(1)|pancreas(1)	7	GRCh37	CD073590	CEP290	D	rs77980773	c.(1666-1668)ATTfs		centrosomal protein 290kDa																																				SO:0001589	frameshift_variant	80184				cilium assembly|eye photoreceptor cell development|G2/M transition of mitotic cell cycle|hindbrain development|otic vesicle formation|positive regulation of transcription, DNA-dependent|pronephros development|protein transport	cell surface|centrosome|cytosol|nucleus|photoreceptor connecting cilium	protein binding	g.chr12:88512304_88512305insT	AB002371	CCDS55858.1	12q21.33	2014-09-17				ENSG00000198707			29021	protein-coding gene	gene with protein product	"""Joubert syndrome 5"", ""nephrocystin-6"", ""cancer/testis antigen 87"", ""POC3 centriolar protein homolog (Chlamydomonas)"", ""Meckel syndrome, type 4"""	610142				15474516, 16682973, 16632484	Standard	NM_025114		Approved	KIAA0373, FLJ13615, 3H11Ag, rd16, NPHP6, JBTS5, SLSN6, LCA10, MKS4, BBS14, CT87, POC3	uc001tar.3	O15078		ENST00000552810.1:c.1667dupA	12.37:g.88512314_88512314dupT	ENSP00000448012:p.Ile556fs					CEP290_uc001tat.2_Frame_Shift_Ins_p.I318fs|CEP290_uc009zsl.1_RNA	p.I556fs	NM_025114	NP_079390	O15078	CE290_HUMAN			17	2010_2011	-			556			Potential.		Q1PSK5|Q66GS8|Q9H2G6|Q9H6Q7|Q9H8I0	Frame_Shift_Ins	INS	ENST00000552810.1	37	c.1666_1667insA	CCDS55858.1																																																																																				0.312	CEP290-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000406344.1		NM_025114		3	6	NaN	NaN	NaN	NaN	NaN	3	6	---	---
ANKFY1	51479	broad.mit.edu	37	17	4086731	4086732	+	Frame_Shift_Ins	INS	-	-	GC			TCGA-CF-A3MH-01A-11D-A20D-08	TCGA-CF-A3MH-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8867b16f-cd05-41e9-b3ca-4c72a1ebeb70	8ad1181e-2e1d-40cb-a18d-9240b5ab1733	g.chr17:4086731_4086732insGC	ENST00000341657.4	-	14	1948_1949	c.1913_1914insGC	c.(1912-1914)gcafs	p.A638fs	ANKFY1_ENST00000570535.1_Frame_Shift_Ins_p.A680fs|Y_RNA_ENST00000516003.1_RNA|ANKFY1_ENST00000573722.1_5'Flank|ANKFY1_ENST00000574367.1_Frame_Shift_Ins_p.A638fs|CYB5D2_ENST00000573984.1_Intron	NM_016376.3	NP_057460.3	Q9P2R3	ANFY1_HUMAN	ankyrin repeat and FYVE domain containing 1	638					endosomal vesicle fusion (GO:0034058)|endosome localization (GO:0032439)|Golgi to lysosome transport (GO:0090160)|positive regulation of pinocytosis (GO:0048549)|retrograde transport, endosome to Golgi (GO:0042147)	early endosome (GO:0005769)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)|macropinosome (GO:0044354)|membrane (GO:0016020)	metal ion binding (GO:0046872)|phosphatidylinositol phosphate binding (GO:1901981)|Rab GTPase binding (GO:0017137)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(11)|liver(1)|lung(5)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	32						GCAGGAAGAGTGCGCTCTTGCT	0.55																																						uc002fxq.1		NaN																	0				ovary(2)|skin(1)	3						c.(1912-1914)GCAfs		ankyrin repeat and FYVE domain containing 1																																				SO:0001589	frameshift_variant	51479					endosome membrane	metal ion binding|protein binding	g.chr17:4086731_4086732insGC	AB033081	CCDS42236.1, CCDS58502.1	17p13.3	2013-01-10			ENSG00000185722	ENSG00000185722		"""Zinc fingers, FYVE domain containing"", ""BTB/POZ domain containing"", ""Ankyrin repeat domain containing"""	20763	protein-coding gene	gene with protein product		607927				10940552, 17273843	Standard	NM_016376		Approved	ANKHZN, KIAA1255, ZFYVE14, BTBD23	uc002fxn.3	Q9P2R3	OTTHUMG00000177727	ENST00000341657.4:c.1912_1913dupGC	17.37:g.4086734_4086735dupGC	ENSP00000343362:p.Ala638fs					ANKFY1_uc002fxn.2_Frame_Shift_Ins_p.A680fs|ANKFY1_uc002fxo.2_Frame_Shift_Ins_p.A638fs|ANKFY1_uc002fxp.2_Frame_Shift_Ins_p.A637fs|ANKFY1_uc010ckp.2_Frame_Shift_Ins_p.A579fs	p.A638fs	NM_016376	NP_057460	Q9P2R3	ANFY1_HUMAN			14	1951_1952	-			638			ANK 9.		A8KA65|Q5RKV4|Q9ULG5	Frame_Shift_Ins	INS	ENST00000341657.4	37	c.1913_1914insGC																																																																																					0.550	ANKFY1-008	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000438702.1		NM_016376		60	104	NaN	NaN	NaN	NaN	NaN	60	104	---	---
CABLES1	91768	broad.mit.edu	37	18	20716015	20716023	+	In_Frame_Del	DEL	GGCGCCGGC	GGCGCCGGC	-	rs201595073|rs139352344	byFrequency	TCGA-CF-A3MH-01A-11D-A20D-08	TCGA-CF-A3MH-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8867b16f-cd05-41e9-b3ca-4c72a1ebeb70	8ad1181e-2e1d-40cb-a18d-9240b5ab1733	g.chr18:20716015_20716023delGGCGCCGGC	ENST00000256925.7	+	1	289_297	c.289_297delGGCGCCGGC	c.(289-297)ggcgccggcdel	p.GAG97del	CABLES1_ENST00000400473.2_Intron|AC105247.1_ENST00000411067.1_RNA	NM_001100619.2	NP_001094089.1	Q8TDN4	CABL1_HUMAN	Cdk5 and Abl enzyme substrate 1	97	Ala-rich.|Interacts with TDRD7. {ECO:0000250}.				blood coagulation (GO:0007596)|cell cycle (GO:0007049)|cell division (GO:0051301)|nervous system development (GO:0007399)|regulation of cell cycle (GO:0051726)|regulation of cell division (GO:0051302)	cytosol (GO:0005829)|nucleus (GO:0005634)	cyclin-dependent protein serine/threonine kinase regulator activity (GO:0016538)			breast(1)|kidney(2)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|stomach(1)	11	all_cancers(21;0.000102)|all_epithelial(16;2.48e-06)|Lung NSC(20;0.00696)|all_lung(20;0.0197)|Colorectal(14;0.0202)|Ovarian(20;0.127)					ggccaagccgggcgccggcggcgcctgcg	0.785														1123	0.224241	0.2602	0.17	5008	,	,		3844	0.244		0.2048	False		,,,				2504	0.2137					uc002kuc.2		NaN																	0				breast(1)	1						c.(289-297)GGCGCCGGCdel		Cdk5 and Abl enzyme substrate 1 isoform 2																																				SO:0001651	inframe_deletion	91768				blood coagulation|cell cycle|cell division|regulation of cell cycle|regulation of cell division	cytosol|nucleus	cyclin-dependent protein kinase regulator activity|protein binding	g.chr18:20716015_20716023delGGCGCCGGC	BC037218	CCDS42417.1, CCDS42418.1, CCDS58615.1	18q11.2	2005-08-16				ENSG00000134508			25097	protein-coding gene	gene with protein product		609194				12477932	Standard	NM_138375		Approved	HsT2563, FLJ35924	uc002kuc.2	Q8TDN4		ENST00000256925.7:c.289_297delGGCGCCGGC	18.37:g.20716015_20716023delGGCGCCGGC	ENSP00000256925:p.Gly97_Gly99del					CABLES1_uc002kub.2_Intron	p.GAG97del	NM_001100619	NP_001094089	Q8TDN4	CABL1_HUMAN			1	289_297	+	all_cancers(21;0.000102)|all_epithelial(16;2.48e-06)|Lung NSC(20;0.00696)|all_lung(20;0.0197)|Colorectal(14;0.0202)|Ovarian(20;0.127)		97_99			Ala-rich.|Interacts with TDRD7 (By similarity).		B4DK60|Q8N3Y8|Q8NA22|Q9BTG1	In_Frame_Del	DEL	ENST00000256925.7	37	c.289_297delGGCGCCGGC	CCDS42417.1																																																																																				0.785	CABLES1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000445198.2		NM_138375		4	2	NaN	NaN	NaN	NaN	NaN	4	2	---	---
HPS4	89781	broad.mit.edu	37	22	26868322	26868322	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CF-A3MH-01A-11D-A20D-08	TCGA-CF-A3MH-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8867b16f-cd05-41e9-b3ca-4c72a1ebeb70	8ad1181e-2e1d-40cb-a18d-9240b5ab1733	g.chr22:26868322delG	ENST00000398145.2	-	6	1063	c.447delC	c.(445-447)aacfs	p.N149fs	HPS4_ENST00000398141.1_Frame_Shift_Del_p.N144fs|HPS4_ENST00000336873.5_Frame_Shift_Del_p.N149fs|HPS4_ENST00000402105.3_Frame_Shift_Del_p.N144fs	NM_022081.5	NP_071364.4	Q9NQG7	HPS4_HUMAN	Hermansky-Pudlak syndrome 4	149					blood coagulation (GO:0007596)|hemostasis (GO:0007599)|lysosome organization (GO:0007040)|melanocyte differentiation (GO:0030318)|positive regulation of eye pigmentation (GO:0048075)|protein stabilization (GO:0050821)|protein targeting (GO:0006605)	BLOC-3 complex (GO:0031085)|cytoplasm (GO:0005737)|lysosome (GO:0005764)|melanosome (GO:0042470)|membrane (GO:0016020)|platelet dense granule (GO:0042827)	protein dimerization activity (GO:0046983)|protein homodimerization activity (GO:0042803)			breast(2)|endometrium(3)|kidney(5)|large_intestine(4)|lung(12)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	32						GATCACTGGTGTTTTTCAGAA	0.393									Hermansky-Pudlak syndrome																													uc003acl.2		NaN																	0					0						c.(445-447)AACfs		light ear protein isoform a							146.0	153.0	151.0					22																	26868322		2203	4300	6503	SO:0001589	frameshift_variant	89781	Hermansky-Pudlak_syndrome	Familial Cancer Database	HPS, HPS1-8	lysosome organization|positive regulation of eye pigmentation|protein stabilization|protein targeting	lysosome|melanosome|membrane fraction|platelet dense granule	protein homodimerization activity	g.chr22:26868322delG		CCDS13835.1, CCDS46677.1	22q12.1	2014-09-17			ENSG00000100099	ENSG00000100099			15844	protein-coding gene	gene with protein product		606682				11836498, 12663659	Standard	NM_022081		Approved	KIAA1667, LE	uc003aci.4	Q9NQG7	OTTHUMG00000030459	ENST00000398145.2:c.447delC	22.37:g.26868322delG	ENSP00000381213:p.Asn149fs					HPS4_uc003aci.2_Frame_Shift_Del_p.N144fs|HPS4_uc003acj.2_5'UTR|HPS4_uc003ack.2_5'UTR|HPS4_uc003acn.2_5'UTR|HPS4_uc010gvd.1_Frame_Shift_Del_p.N149fs|HPS4_uc003ach.2_5'UTR	p.N149fs	NM_022081	NP_071364	Q9NQG7	HPS4_HUMAN			6	1106	-			149					B1AHQ4|Q5H8V6|Q96LX6|Q9BY93|Q9UH37|Q9UH38	Frame_Shift_Del	DEL	ENST00000398145.2	37	c.447delC	CCDS13835.1																																																																																				0.393	HPS4-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320778.1		NM_022081		68	104	NaN	NaN	NaN	NaN	NaN	68	104	---	---
SH3BP2	6452	broad.mit.edu	37	4	2831730	2831731	+	Frame_Shift_Ins	INS	-	-	C			TCGA-CF-A3MH-01A-11D-A20D-08	TCGA-CF-A3MH-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8867b16f-cd05-41e9-b3ca-4c72a1ebeb70	8ad1181e-2e1d-40cb-a18d-9240b5ab1733	g.chr4:2831730_2831731insC	ENST00000356331.5	+	8	1358_1359	c.1097_1098insC	c.(1096-1101)gaccccfs	p.DP366fs	SH3BP2_ENST00000452765.2_Frame_Shift_Ins_p.DP366fs|SH3BP2_ENST00000442312.2_Frame_Shift_Ins_p.DP394fs|SH3BP2_ENST00000435136.2_Frame_Shift_Ins_p.DP366fs|SH3BP2_ENST00000511747.1_Frame_Shift_Ins_p.DP366fs|SH3BP2_ENST00000503393.2_Frame_Shift_Ins_p.DP423fs	NM_003023.4	NP_003014.3	P78314	3BP2_HUMAN	SH3-domain binding protein 2	366					positive regulation of signal transduction (GO:0009967)|signal transduction (GO:0007165)		SH3/SH2 adaptor activity (GO:0005070)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	20				UCEC - Uterine corpus endometrioid carcinoma (64;0.164)		GCTGAAGAGGACCCCCCAAGGG	0.658									Cherubism																													uc003gfi.3		NaN																	0				central_nervous_system(1)	1						c.(1096-1098)GACfs		SH3-domain binding protein 2 isoform a																																				SO:0001589	frameshift_variant	6452	Cherubism	Familial Cancer Database	Familial Benign Giant-cell Tumor of the Jaw, Familial Multilocular Cystic Disease	signal transduction		SH3 domain binding|SH3/SH2 adaptor activity	g.chr4:2831730_2831731insC	BC022996	CCDS33944.1, CCDS54715.1, CCDS54716.1	4p16.3	2013-02-14				ENSG00000087266		"""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	10825	protein-coding gene	gene with protein product		602104	"""Cherubism"""			9299232, 11381256	Standard	NM_003023		Approved	RES4-23, CRBM	uc003gfj.4	P78314		ENST00000356331.5:c.1103dupC	4.37:g.2831736_2831736dupC	ENSP00000348685:p.Asp366fs					SH3BP2_uc011bvp.1_Frame_Shift_Ins_p.D394fs|SH3BP2_uc003gfj.3_Frame_Shift_Ins_p.D423fs|SH3BP2_uc003gfk.3_Frame_Shift_Ins_p.D366fs|SH3BP2_uc003gfl.3_Frame_Shift_Ins_p.D299fs|SH3BP2_uc003gfm.3_Frame_Shift_Ins_p.D341fs	p.D366fs	NM_001122681	NP_001116153	P78314	3BP2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (64;0.164)	8	1217_1218	+			366					A6NNC2|B2R5R6|B4DT04|D3DVR0|D6R919|O00500|O15373|P78315	Frame_Shift_Ins	INS	ENST00000356331.5	37	c.1097_1098insC	CCDS33944.1																																																																																				0.658	SH3BP2-007	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000362406.2		NM_003023		115	33	NaN	NaN	NaN	NaN	NaN	115	33	---	---
HMGB2	3148	broad.mit.edu	37	4	174253235	174253240	+	In_Frame_Del	DEL	TCTTCA	TCTTCA	-			TCGA-CF-A3MH-01A-11D-A20D-08	TCGA-CF-A3MH-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8867b16f-cd05-41e9-b3ca-4c72a1ebeb70	8ad1181e-2e1d-40cb-a18d-9240b5ab1733	g.chr4:174253235_174253240delTCTTCA	ENST00000296503.5	-	5	1494_1499	c.621_626delTGAAGA	c.(619-627)gatgaagaa>gaa	p.DE207del	HMGB2_ENST00000446922.2_In_Frame_Del_p.DE207del|HMGB2_ENST00000438704.2_In_Frame_Del_p.DE207del|RP11-798M19.3_ENST00000507803.1_RNA			P26583	HMGB2_HUMAN	high mobility group box 2	207	Asp/Glu-rich (acidic).				apoptotic DNA fragmentation (GO:0006309)|apoptotic process (GO:0006915)|base-excision repair, DNA ligation (GO:0006288)|cell chemotaxis (GO:0060326)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to lipopolysaccharide (GO:0071222)|chromatin organization (GO:0006325)|DNA ligation involved in DNA repair (GO:0051103)|DNA topological change (GO:0006265)|male gonad development (GO:0008584)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|positive chemotaxis (GO:0050918)|positive regulation of DNA binding (GO:0043388)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of megakaryocyte differentiation (GO:0045654)|positive regulation of nuclease activity (GO:0032075)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to steroid hormone (GO:0048545)|spermatid nucleus differentiation (GO:0007289)|V(D)J recombination (GO:0033151)	condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|protein complex (GO:0043234)	chemoattractant activity (GO:0042056)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|DNA binding, bending (GO:0008301)|double-stranded DNA binding (GO:0003690)|poly(A) RNA binding (GO:0044822)|RAGE receptor binding (GO:0050786)|sequence-specific DNA binding transcription factor activity (GO:0003700)|single-stranded DNA binding (GO:0003697)|transcription regulatory region DNA binding (GO:0044212)			endometrium(2)|kidney(1)|large_intestine(2)|lung(6)|urinary_tract(3)	14		Prostate(90;0.0132)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_hematologic(60;0.107)|all_neural(102;0.122)		all cancers(43;9.58e-18)|Epithelial(43;3.75e-16)|OV - Ovarian serous cystadenocarcinoma(60;6.24e-09)|STAD - Stomach adenocarcinoma(60;0.00273)|GBM - Glioblastoma multiforme(59;0.0064)|LUSC - Lung squamous cell carcinoma(193;0.0903)|Kidney(143;0.249)		AGCCATTTAttcttcatcttcatcct	0.442																																						uc011ckc.1		NaN																	0					0						c.(619-627)GATGAAGAA>GAA		high-mobility group box 2																																				SO:0001651	inframe_deletion	3148				base-excision repair, DNA ligation|cell chemotaxis|cellular response to lipopolysaccharide|DNA fragmentation involved in apoptotic nuclear change|DNA topological change|negative regulation of transcription, DNA-dependent|nucleosome assembly|phosphatidylinositol-mediated signaling|positive regulation of DNA binding|positive regulation of endothelial cell proliferation|positive regulation of erythrocyte differentiation|positive regulation of megakaryocyte differentiation|positive regulation of nuclease activity|positive regulation of transcription from RNA polymerase II promoter|V(D)J recombination	condensed chromosome|extracellular space|nucleolus|nucleoplasm|perinuclear region of cytoplasm|protein complex	chemoattractant activity|damaged DNA binding|DNA bending activity|double-stranded DNA binding|RAGE receptor binding|sequence-specific DNA binding transcription factor activity|single-stranded DNA binding|transcription regulatory region DNA binding	g.chr4:174253235_174253240delTCTTCA		CCDS3816.1	4q31	2011-07-01	2011-04-05	2002-08-16	ENSG00000164104	ENSG00000164104		"""High-mobility group / Canonical"""	5000	protein-coding gene	gene with protein product		163906	"""high-mobility group (nonhistone chromosomal) protein 2"", ""high-mobility group box 2"""	HMG2		1754403	Standard	NM_002129		Approved		uc011ckc.1	P26583	OTTHUMG00000160799	ENST00000296503.5:c.621_626delTGAAGA	4.37:g.174253241_174253246delTCTTCA	ENSP00000296503:p.Asp207_Glu208del					HMGB2_uc003ita.3_In_Frame_Del_p.DE207del|HMGB2_uc003itb.2_In_Frame_Del_p.DE207del|HMGB2_uc003itc.2_3'UTR	p.DE207del	NM_001130689	NP_001124161	P26583	HMGB2_HUMAN		all cancers(43;9.58e-18)|Epithelial(43;3.75e-16)|OV - Ovarian serous cystadenocarcinoma(60;6.24e-09)|STAD - Stomach adenocarcinoma(60;0.00273)|GBM - Glioblastoma multiforme(59;0.0064)|LUSC - Lung squamous cell carcinoma(193;0.0903)|Kidney(143;0.249)	4	741_746	-		Prostate(90;0.0132)|Renal(120;0.0183)|Melanoma(52;0.0749)|all_hematologic(60;0.107)|all_neural(102;0.122)	207_208			Asp/Glu-rich (acidic).		B2R4K8|D3DP37|Q5U072	In_Frame_Del	DEL	ENST00000296503.5	37	c.621_626delTGAAGA	CCDS3816.1																																																																																				0.442	HMGB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362362.1		NM_001130688		59	112	NaN	NaN	NaN	NaN	NaN	59	112	---	---
KCNN2	3781	broad.mit.edu	37	5	113698631	113698632	+	In_Frame_Ins	INS	-	-	GCC	rs151038013|rs111266015|rs76852708|rs34641516		TCGA-CF-A3MH-01A-11D-A20D-08	TCGA-CF-A3MH-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8867b16f-cd05-41e9-b3ca-4c72a1ebeb70	8ad1181e-2e1d-40cb-a18d-9240b5ab1733	g.chr5:113698631_113698632insGCC	ENST00000512097.3	+	2	1177_1178	c.159_160insGCC	c.(160-162)gcc>GCCgcc	p.54_54A>AA	KCNN2_ENST00000264773.3_In_Frame_Ins_p.54_54A>AA			Q9H2S1	KCNN2_HUMAN	potassium intermediate/small conductance calcium-activated channel, subfamily N, member 2	54	Poly-Ala.				potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of potassium ion transmembrane transport (GO:1901379)|synaptic transmission (GO:0007268)	dendritic spine (GO:0043197)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|calcium-activated potassium channel activity (GO:0015269)|calmodulin binding (GO:0005516)|protein homodimerization activity (GO:0042803)|small conductance calcium-activated potassium channel activity (GO:0016286)			breast(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(21)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	45		all_cancers(142;2.86e-05)|all_epithelial(76;9.33e-06)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Breast(839;0.159)|Lung NSC(810;0.174)|all_lung(232;0.206)		OV - Ovarian serous cystadenocarcinoma(64;1.89e-08)|Epithelial(69;2.04e-08)|all cancers(49;3.74e-06)|COAD - Colon adenocarcinoma(37;0.142)|Colorectal(14;0.195)	Miconazole(DB01110)|Procaine(DB00721)	CTGCAGCCGCTGCCGCCGCCGC	0.703																																						uc003kqo.2		NaN																	0				ovary(2)	2						c.(157-162)insGCC		small conductance calcium-activated potassium				1003,2377		300,403,987						-5.9	0.0		dbSNP_126	7	2590,4184		804,982,1601	no	coding	KCNN2	NM_021614.2		1104,1385,2588	A1A1,A1R,RR		38.2344,29.6746,35.3851				3593,6561				SO:0001652	inframe_insertion	3781					integral to membrane	calmodulin binding|small conductance calcium-activated potassium channel activity	g.chr5:113698631_113698632insGCC	AF239613	CCDS4114.1, CCDS43352.1	5q22.3	2012-07-05			ENSG00000080709	ENSG00000080709		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	6291	protein-coding gene	gene with protein product		605879				16382103	Standard	NM_001278204		Approved	KCa2.2, hSK2	uc003kqo.3	Q9H2S1	OTTHUMG00000128836	ENST00000512097.3:c.169_171dupGCC	5.37:g.113698638_113698640dupGCC	ENSP00000427120:p.Ala58dup						p.58_59insA	NM_021614	NP_067627	Q9H2S1	KCNN2_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;1.89e-08)|Epithelial(69;2.04e-08)|all cancers(49;3.74e-06)|COAD - Colon adenocarcinoma(37;0.142)|Colorectal(14;0.195)	1	616_617	+		all_cancers(142;2.86e-05)|all_epithelial(76;9.33e-06)|Prostate(80;0.00955)|Ovarian(225;0.0444)|Breast(839;0.159)|Lung NSC(810;0.174)|all_lung(232;0.206)	58_59					A6NF94|Q0VFZ4|Q6PJI0|Q6X2Y2	In_Frame_Ins	INS	ENST00000512097.3	37	c.159_160insGCC	CCDS4114.1																																																																																				0.703	KCNN2-001	KNOWN	not_organism_supported|upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250775.2		NM_021614		3	4	NaN	NaN	NaN	NaN	NaN	3	4	---	---
SNAPC4	6621	broad.mit.edu	37	9	139277995	139277997	+	In_Frame_Del	DEL	GCT	GCT	-	rs147271628|rs34427285|rs35266724|rs34222232	byFrequency	TCGA-CF-A3MH-01A-11D-A20D-08	TCGA-CF-A3MH-10A-01D-A20D-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8867b16f-cd05-41e9-b3ca-4c72a1ebeb70	8ad1181e-2e1d-40cb-a18d-9240b5ab1733	g.chr9:139277995_139277997delGCT	ENST00000298532.2	-	15	1992_1994	c.1624_1626delAGC	c.(1624-1626)agcdel	p.S542del		NM_003086.2	NP_003077.2			small nuclear RNA activating complex, polypeptide 4, 190kDa									p.S542delS(2)		biliary_tract(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	33		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.31e-06)|Epithelial(140;7.13e-06)		CGTCCTCCTCgctgctgctgctg	0.69														955	0.190695	0.1808	0.3184	5008	,	,		11493	0.0565		0.2356	False		,,,				2504	0.2055					uc004chh.2		NaN																	2	Deletion - In frame(2)		prostate(1)|central_nervous_system(1)		0						c.(1624-1626)AGCdel		small nuclear RNA activating complex,																																				SO:0001651	inframe_deletion	6621				snRNA transcription from RNA polymerase II promoter|snRNA transcription from RNA polymerase III promoter	snRNA-activating protein complex	DNA binding|sequence-specific DNA binding transcription factor activity	g.chr9:139277995_139277997delGCT	AF032387	CCDS6998.1	9q34.3	2008-07-21	2002-08-29		ENSG00000165684	ENSG00000165684			11137	protein-coding gene	gene with protein product		602777	"""small nuclear RNA activating complex, polypeptide 4, 190kD"""			9418884	Standard	XM_005266096		Approved	SNAP190, PTFalpha, FLJ13451	uc004chh.3	Q5SXM2	OTTHUMG00000020929	ENST00000298532.2:c.1624_1626delAGC	9.37:g.139278004_139278006delGCT	ENSP00000298532:p.Ser542del						p.S542del	NM_003086	NP_003077	Q5SXM2	SNPC4_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.31e-06)|Epithelial(140;7.13e-06)	15	1633_1635	-		Myeloproliferative disorder(178;0.0511)	542						In_Frame_Del	DEL	ENST00000298532.2	37	c.1624_1626delAGC	CCDS6998.1																																																																																				0.690	SNAPC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055071.1		NM_003086		2	4	NaN	NaN	NaN	NaN	NaN	2	4	---	---
