#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
KIF1B	23095	broad.mit.edu	37	1	10363477	10363477	+	Intron	SNP	A	A	T			TCGA-G9-6385-01A-11D-1786-08	TCGA-G9-6385-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe227d04-2285-41ff-b5b8-421a317a61c7	fc787cb2-b174-4f58-b4db-22eb3d987661	g.chr1:10363477A>T	ENST00000377086.1	+	22	2317				KIF1B_ENST00000377093.4_Missense_Mutation_p.Y745F|KIF1B_ENST00000377081.1_Intron|KIF1B_ENST00000263934.6_Intron|KIF1B_ENST00000377083.1_Missense_Mutation_p.Y745F			O60333	KIF1B_HUMAN	kinesin family member 1B						anterograde axon cargo transport (GO:0008089)|apoptotic process (GO:0006915)|cytoskeleton-dependent intracellular transport (GO:0030705)|microtubule-based movement (GO:0007018)|mitochondrion transport along microtubule (GO:0047497)|neuromuscular synaptic transmission (GO:0007274)|neuron-neuron synaptic transmission (GO:0007270)|vesicle-mediated transport (GO:0016192)	cytoplasmic vesicle (GO:0031410)|cytoplasmic vesicle membrane (GO:0030659)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|kinesin binding (GO:0019894)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)	p.Y745F(1)		breast(2)|endometrium(7)|kidney(8)|large_intestine(9)|lung(29)|ovary(3)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(2)	71	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642)		GAGATTTGCTATGAGGTTGCT	0.438																																						ENST00000377093.4																			1	Substitution - Missense(1)	p.Y745F(1)	prostate(1)	breast(2)|endometrium(7)|kidney(8)|large_intestine(9)|lung(29)|ovary(3)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(2)	71						c.(2233-2235)tAt>tTt		kinesin family member 1B							66.0	68.0	67.0					1																	10363477		2203	4300	6503	SO:0001627	intron_variant	23095				anterograde axon cargo transport|apoptosis|neuromuscular synaptic transmission|neuron-neuron synaptic transmission	cytoplasmic vesicle membrane|microtubule|microtubule associated complex|mitochondrion	ATP binding|ATPase activity|kinesin binding|microtubule motor activity|protein binding	g.chr1:10363477A>T	AF257176	CCDS111.1, CCDS112.1	1p36.22	2014-09-17			ENSG00000054523	ENSG00000054523		"""Kinesins"", ""Pleckstrin homology (PH) domain containing"""	16636	protein-coding gene	gene with protein product		605995		CMT2A, CMT2		11389829, 10762626	Standard	NM_015074		Approved	KIAA0591, KLP, HMSNII	uc001aqw.4	O60333	OTTHUMG00000001817	ENST00000377086.1:c.2115+6173A>T	1.37:g.10363477A>T						KIF1B_ENST00000377083.1_Missense_Mutation_p.Y745F|KIF1B_ENST00000263934.6_Intron|KIF1B_ENST00000377081.1_Intron|KIF1B_ENST00000377086.1_Intron	p.Y745F	NM_183416.3	NP_904325.2	O60333	KIF1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642)	21	2387	+	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)	0					A6NFS8|A6NKQ4|Q4VXC3|Q4VXC4|Q4VXC5|Q4VXC6|Q96Q94|Q9BV80|Q9P280	Missense_Mutation	SNP	ENST00000377086.1	37	c.2234A>T		.	.	.	.	.	.	.	.	.	.	A	22.0	4.224504	0.79576	.	.	ENSG00000054523	ENST00000377093;ENST00000377083	T;T	0.73897	-0.79;-0.79	5.8	5.8	0.92144	.	.	.	.	.	D	0.86908	0.6046	.	.	.	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.88625	0.3165	8	0.87932	D	0	.	16.2141	0.82191	1.0:0.0:0.0:0.0	.	745	O60333-3	.	F	745	ENSP00000366297:Y745F;ENSP00000366287:Y745F	ENSP00000366287:Y745F	Y	+	2	0	KIF1B	10286064	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.206000	0.95056	2.225000	0.72522	0.529000	0.55759	TAT		0.438	KIF1B-001	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000005102.1			6	71	6	71	---	---	---	---
FLG2	388698	broad.mit.edu	37	1	152326999	152326999	+	Missense_Mutation	SNP	C	C	T			TCGA-G9-6385-01A-11D-1786-08	TCGA-G9-6385-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe227d04-2285-41ff-b5b8-421a317a61c7	fc787cb2-b174-4f58-b4db-22eb3d987661	g.chr1:152326999C>T	ENST00000388718.5	-	3	3335	c.3263G>A	c.(3262-3264)gGc>gAc	p.G1088D	FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	1088	Ser-rich.				establishment of skin barrier (GO:0061436)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)	p.G1088D(1)		NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			TTGACCATAGCCAGATGATTG	0.498																																						ENST00000388718.5																			1	Substitution - Missense(1)	p.G1088D(1)	prostate(1)	NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188						c.(3262-3264)gGc>gAc		filaggrin family member 2							321.0	323.0	322.0					1																	152326999		2203	4300	6503	SO:0001583	missense	388698						calcium ion binding|structural molecule activity	g.chr1:152326999C>T	AY827490	CCDS30861.1	1q21.3	2013-01-10			ENSG00000143520	ENSG00000143520		"""EF-hand domain containing"""	33276	protein-coding gene	gene with protein product						12477932	Standard	NM_001014342		Approved	IFPS	uc001ezw.4	Q5D862	OTTHUMG00000012245	ENST00000388718.5:c.3263G>A	1.37:g.152326999C>T	ENSP00000373370:p.Gly1088Asp					FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA	p.G1088D	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	3335	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		1088			Ser-rich.		Q9H4U1	Missense_Mutation	SNP	ENST00000388718.5	37	c.3263G>A	CCDS30861.1	.	.	.	.	.	.	.	.	.	.	C	2.068	-0.413653	0.04799	.	.	ENSG00000143520	ENST00000388718	T	0.21031	2.03	3.6	0.479	0.16796	.	.	.	.	.	T	0.01870	0.0059	N	0.13098	0.295	0.09310	N	1	P	0.39480	0.675	B	0.26202	0.067	T	0.37865	-0.9687	9	0.11794	T	0.64	2.797	3.936	0.09305	0.0:0.5591:0.1998:0.2411	.	1088	Q5D862	FILA2_HUMAN	D	1088	ENSP00000373370:G1088D	ENSP00000373370:G1088D	G	-	2	0	FLG2	150593623	0.009000	0.17119	0.000000	0.03702	0.003000	0.03518	0.259000	0.18405	0.221000	0.20879	0.558000	0.71614	GGC		0.498	FLG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034018.5	NM_001014342		11	381	11	381	---	---	---	---
OR2G6	391211	broad.mit.edu	37	1	248685655	248685655	+	Missense_Mutation	SNP	G	G	C			TCGA-G9-6385-01A-11D-1786-08	TCGA-G9-6385-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe227d04-2285-41ff-b5b8-421a317a61c7	fc787cb2-b174-4f58-b4db-22eb3d987661	g.chr1:248685655G>C	ENST00000343414.4	+	1	740	c.708G>C	c.(706-708)aaG>aaC	p.K236N		NM_001013355.1	NP_001013373.1	Q5TZ20	OR2G6_HUMAN	olfactory receptor, family 2, subfamily G, member 6	236						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.K236N(1)		NS(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(40)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0156)	OV - Ovarian serous cystadenocarcinoma(106;0.0265)			GCCGCCAAAAGGCCTTTGGGA	0.458																																						ENST00000343414.4																			1	Substitution - Missense(1)	p.K236N(1)	prostate(1)	NS(1)|cervix(1)|endometrium(2)|large_intestine(7)|lung(40)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	61						c.(706-708)aaG>aaC		olfactory receptor, family 2, subfamily G, member 6							105.0	108.0	107.0					1																	248685655		2203	4300	6503	SO:0001583	missense	391211				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248685655G>C		CCDS31119.1	1q44	2012-08-09			ENSG00000188558	ENSG00000188558		"""GPCR / Class A : Olfactory receptors"""	27019	protein-coding gene	gene with protein product							Standard	NM_001013355		Approved		uc001ien.1	Q5TZ20	OTTHUMG00000040462	ENST00000343414.4:c.708G>C	1.37:g.248685655G>C	ENSP00000341291:p.Lys236Asn						p.K236N	NM_001013355.1	NP_001013373.1	Q5TZ20	OR2G6_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0265)		1	740	+	all_cancers(71;0.000108)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)	all_cancers(173;0.0156)	236					B2RP33	Missense_Mutation	SNP	ENST00000343414.4	37	c.708G>C	CCDS31119.1	.	.	.	.	.	.	.	.	.	.	N	12.67	2.006204	0.35415	.	.	ENSG00000188558	ENST00000343414	T	0.00374	7.72	3.83	-3.1	0.05315	GPCR, rhodopsin-like superfamily (1);	0.000000	0.46442	U	0.000297	T	0.01320	0.0043	H	0.97732	4.065	0.25621	N	0.986393	D	0.89917	1.0	D	0.97110	1.0	T	0.04767	-1.0928	10	0.87932	D	0	.	10.5308	0.44975	0.6266:0.0:0.3734:0.0	.	236	Q5TZ20	OR2G6_HUMAN	N	236	ENSP00000341291:K236N	ENSP00000341291:K236N	K	+	3	2	OR2G6	246752278	0.489000	0.26004	0.063000	0.19743	0.393000	0.30537	-0.660000	0.05317	-0.671000	0.05274	0.400000	0.26472	AAG		0.458	OR2G6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097358.1	XM_372842		17	65	17	65	---	---	---	---
AMBN	258	broad.mit.edu	37	4	71472192	71472192	+	Silent	SNP	C	C	A			TCGA-G9-6385-01A-11D-1786-08	TCGA-G9-6385-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe227d04-2285-41ff-b5b8-421a317a61c7	fc787cb2-b174-4f58-b4db-22eb3d987661	g.chr4:71472192C>A	ENST00000322937.6	+	13	1192	c.1089C>A	c.(1087-1089)ggC>ggA	p.G363G	AMBN_ENST00000449493.2_Silent_p.G348G	NM_016519.5	NP_057603.1	Q9NP70	AMBN_HUMAN	ameloblastin (enamel matrix protein)	363					biomineral tissue development (GO:0031214)|cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|odontogenesis of dentin-containing tooth (GO:0042475)	proteinaceous extracellular matrix (GO:0005578)	growth factor activity (GO:0008083)|structural constituent of tooth enamel (GO:0030345)	p.G363G(2)		NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(1)	29			Lung(101;0.235)			ACATTCCCGGCCTGCCAAGGA	0.557																																						ENST00000322937.6																			2	Substitution - coding silent(2)	p.G363G(2)	large_intestine(1)|prostate(1)	NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(3)|prostate(2)|skin(1)	29						c.(1087-1089)ggC>ggA		ameloblastin (enamel matrix protein)							48.0	49.0	48.0					4																	71472192		2203	4300	6503	SO:0001819	synonymous_variant	258				bone mineralization|cell adhesion|cell proliferation|odontogenesis of dentine-containing tooth	proteinaceous extracellular matrix	growth factor activity|structural constituent of tooth enamel	g.chr4:71472192C>A	AF209780	CCDS3543.1	4q21	2006-11-28	2006-04-27		ENSG00000178522	ENSG00000178522			452	protein-coding gene	gene with protein product		601259	"""ameloblastin, enamel matrix protein"""			9126491	Standard	NM_016519		Approved		uc003hfl.3	Q9NP70	OTTHUMG00000129913	ENST00000322937.6:c.1089C>A	4.37:g.71472192C>A						AMBN_ENST00000449493.2_Silent_p.G348G	p.G363G	NM_016519.5	NP_057603.1	Q9NP70	AMBN_HUMAN	Lung(101;0.235)		13	1192	+			363					Q3B862|Q9H2X1|Q9H4L1	Silent	SNP	ENST00000322937.6	37	c.1089C>A	CCDS3543.1																																																																																				0.557	AMBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252165.1	NM_016519		3	37	3	37	---	---	---	---
PCDHGB7	56099	broad.mit.edu	37	5	140798766	140798766	+	Missense_Mutation	SNP	A	A	G			TCGA-G9-6385-01A-11D-1786-08	TCGA-G9-6385-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe227d04-2285-41ff-b5b8-421a317a61c7	fc787cb2-b174-4f58-b4db-22eb3d987661	g.chr5:140798766A>G	ENST00000398594.2	+	1	1340	c.1340A>G	c.(1339-1341)gAc>gGc	p.D447G	PCDHGA7_ENST00000518325.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA11_ENST00000398587.2_5'Flank|PCDHGA11_ENST00000518882.1_5'Flank|PCDHGB3_ENST00000576222.1_Intron|PCDHGA5_ENST00000518069.1_Intron	NM_018927.3	NP_061750.1	Q9Y5F8	PCDGJ_HUMAN	protocadherin gamma subfamily B, 7	447	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.D447G(1)		central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(13)|lung(15)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(3)	56			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GACGTCAATGACAACGCGCCG	0.572																																						ENST00000398594.2																			1	Substitution - Missense(1)	p.D447G(1)	prostate(1)	central_nervous_system(2)|endometrium(9)|kidney(6)|large_intestine(13)|lung(15)|ovary(4)|prostate(3)|stomach(1)|upper_aerodigestive_tract(3)	56						c.(1339-1341)gAc>gGc									63.0	73.0	69.0					5																	140798766		2148	4239	6387	SO:0001583	missense	56099							g.chr5:140798766A>G	AF152523	CCDS47293.1, CCDS75344.1	5q31	2010-01-26			ENSG00000254122	ENSG00000254122		"""Cadherins / Protocadherins : Clustered"""	8714	other	protocadherin	"""cadherin ME6"""	606304				10380929	Standard	NM_032101		Approved	ME6, PCDH-GAMMA-B7		Q9Y5F8	OTTHUMG00000164054	ENST00000398594.2:c.1340A>G	5.37:g.140798766A>G	ENSP00000381594:p.Asp447Gly					PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA10_ENST00000398610.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA9_ENST00000573521.1_Intron|PCDHGB6_ENST00000520790.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB3_ENST00000576222.1_Intron	p.D447G	NM_018927.3	NP_061750.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1340	+								Q9UN63	Missense_Mutation	SNP	ENST00000398594.2	37	c.1340A>G	CCDS47293.1	.	.	.	.	.	.	.	.	.	.	a	14.91	2.675092	0.47781	.	.	ENSG00000254122	ENST00000398594	T	0.71698	-0.59	5.57	5.57	0.84162	Cadherin (4);Cadherin conserved site (1);Cadherin-like (1);	0.000000	0.34386	U	0.004006	D	0.91610	0.7349	H	0.99719	4.725	0.43347	D	0.995408	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.95334	0.8432	10	0.87932	D	0	.	15.7379	0.77859	1.0:0.0:0.0:0.0	.	447;447	Q9Y5F8;Q9Y5F8-2	PCDGJ_HUMAN;.	G	447	ENSP00000381594:D447G	ENSP00000381594:D447G	D	+	2	0	PCDHGB7	140778950	1.000000	0.71417	1.000000	0.80357	0.140000	0.21249	9.246000	0.95438	2.117000	0.64856	0.402000	0.26972	GAC		0.572	PCDHGB7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376973.1	NM_018927		7	54	7	54	---	---	---	---
FAT2	2196	broad.mit.edu	37	5	150922324	150922324	+	Silent	SNP	T	T	C	rs35581702		TCGA-G9-6385-01A-11D-1786-08	TCGA-G9-6385-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe227d04-2285-41ff-b5b8-421a317a61c7	fc787cb2-b174-4f58-b4db-22eb3d987661	g.chr5:150922324T>C	ENST00000261800.5	-	9	8376	c.8364A>G	c.(8362-8364)ggA>ggG	p.G2788G		NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	FAT atypical cadherin 2	2788	Cadherin 24. {ECO:0000255|PROSITE- ProRule:PRU00043}.				epithelial cell migration (GO:0010631)|homophilic cell adhesion (GO:0007156)	cell-cell adherens junction (GO:0005913)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			CATTGACGTCTCCCACTTGGA	0.478																																						ENST00000261800.5																			0				NS(6)|breast(3)|central_nervous_system(3)|cervix(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(61)|liver(1)|lung(60)|ovary(6)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(11)|urinary_tract(1)	196						c.(8362-8364)ggA>ggG		FAT atypical cadherin 2							179.0	164.0	169.0					5																	150922324		2203	4300	6503	SO:0001819	synonymous_variant	2196				epithelial cell migration|homophilic cell adhesion	cell-cell adherens junction|integral to membrane|nucleus	calcium ion binding	g.chr5:150922324T>C	AF231022	CCDS4317.1	5q33.1	2014-07-21	2013-05-31		ENSG00000086570	ENSG00000086570		"""Cadherins / Cadherin-related"""	3596	protein-coding gene	gene with protein product	"""cadherin-related family member 9"""	604269	"""FAT tumor suppressor (Drosophila) homolog 2"", ""FAT tumor suppressor homolog 2 (Drosophila)"""			9693030	Standard	NM_001447		Approved	MEGF1, CDHF8, HFAT2, CDHR9	uc003lue.4	Q9NYQ8	OTTHUMG00000130126	ENST00000261800.5:c.8364A>G	5.37:g.150922324T>C							p.G2788G	NM_001447.2	NP_001438.1	Q9NYQ8	FAT2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		9	8376	-		Medulloblastoma(196;0.0912)|all_hematologic(541;0.104)	2788			Cadherin 24.		O75091|Q9NSR7	Silent	SNP	ENST00000261800.5	37	c.8364A>G	CCDS4317.1																																																																																				0.478	FAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252434.1	NM_001447		3	181	3	181	---	---	---	---
NOTCH4	4855	broad.mit.edu	37	6	32163814	32163814	+	Silent	SNP	C	C	T			TCGA-G9-6385-01A-11D-1786-08	TCGA-G9-6385-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe227d04-2285-41ff-b5b8-421a317a61c7	fc787cb2-b174-4f58-b4db-22eb3d987661	g.chr6:32163814C>T	ENST00000375023.3	-	30	5550	c.5412G>A	c.(5410-5412)gcG>gcA	p.A1804A	NOTCH4_ENST00000443903.2_Missense_Mutation_p.G181R|GPSM3_ENST00000375043.3_5'Flank	NM_004557.3	NP_004548.3	Q99466	NOTC4_HUMAN	notch 4	1804					cell differentiation (GO:0030154)|cell fate determination (GO:0001709)|embryo development (GO:0009790)|endothelial cell morphogenesis (GO:0001886)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|mammary gland development (GO:0030879)|morphogenesis of a branching structure (GO:0001763)|negative regulation of cell differentiation (GO:0045596)|negative regulation of endothelial cell differentiation (GO:0045602)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|patterning of blood vessels (GO:0001569)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|protein heterodimerization activity (GO:0046982)|receptor activity (GO:0004872)	p.A1804A(1)		NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						GAGCGACGTCCGCCGGCGCTA	0.701																																						ENST00000443903.2																			1	Substitution - coding silent(1)	p.A1804A(1)	prostate(1)	NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(11)|lung(47)|ovary(5)|prostate(4)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(1)	100						c.(541-543)Gga>Aga		notch 4							8.0	10.0	10.0					6																	32163814		1396	2628	4024	SO:0001819	synonymous_variant	4855				cell fate determination|embryo development|hemopoiesis|mammary gland development|negative regulation of endothelial cell differentiation|Notch receptor processing|Notch signaling pathway|patterning of blood vessels|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|protein heterodimerization activity|receptor activity	g.chr6:32163814C>T		CCDS34420.1	6p21.3	2013-01-10	2010-06-24		ENSG00000204301	ENSG00000204301		"""Ankyrin repeat domain containing"""	7884	protein-coding gene	gene with protein product		164951	"""Notch (Drosophila) homolog 4"", ""Notch homolog 4 (Drosophila)"""	INT3		7835890	Standard	NM_004557		Approved		uc003obb.3	Q99466	OTTHUMG00000031044	ENST00000375023.3:c.5412G>A	6.37:g.32163814C>T						NOTCH4_ENST00000375023.3_Silent_p.A1804A	p.G181R			Q99466	NOTC4_HUMAN			3	541	-			1180			EGF-like 4.		B0V183|B0V1X5|O00306|Q5SSY7|Q99458|Q99940|Q9H3S8|Q9UII9|Q9UIJ0	Missense_Mutation	SNP	ENST00000375023.3	37	c.541G>A	CCDS34420.1	.	.	.	.	.	.	.	.	.	.	C	10.60	1.395074	0.25205	.	.	ENSG00000204301	ENST00000443903	T	0.72615	-0.67	4.71	-7.09	0.01553	.	.	.	.	.	T	0.23572	0.0570	.	.	.	0.18873	N	0.999982	B	0.13145	0.007	B	0.08055	0.003	T	0.11891	-1.0569	8	0.18276	T	0.48	.	8.4362	0.32789	0.0:0.2422:0.1972:0.5606	.	181	B4DFM3	.	R	181	ENSP00000398123:G181R	ENSP00000398123:G181R	G	-	1	0	NOTCH4	32271792	0.000000	0.05858	0.000000	0.03702	0.040000	0.13550	-2.612000	0.00884	-1.610000	0.01583	-0.251000	0.11542	GGA		0.701	NOTCH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076045.2			3	11	3	11	---	---	---	---
ZNF292	23036	broad.mit.edu	37	6	87943091	87943091	+	Missense_Mutation	SNP	T	T	A			TCGA-G9-6385-01A-11D-1786-08	TCGA-G9-6385-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe227d04-2285-41ff-b5b8-421a317a61c7	fc787cb2-b174-4f58-b4db-22eb3d987661	g.chr6:87943091T>A	ENST00000369577.3	+	5	630	c.587T>A	c.(586-588)aTt>aAt	p.I196N	ZNF292_ENST00000339907.4_Missense_Mutation_p.I191N	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN	zinc finger protein 292	196						nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)	p.I196N(1)|p.I51N(1)		NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0199)		GATATGAGAATTAAACATCTA	0.313																																						ENST00000369577.3																			2	Substitution - Missense(2)	p.I196N(1)|p.I51N(1)	prostate(2)	NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89						c.(586-588)aTt>aAt		zinc finger protein 292							86.0	82.0	83.0					6																	87943091		1827	4077	5904	SO:0001583	missense	23036				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr6:87943091T>A	AB011102	CCDS47457.1	6q15	2008-10-23			ENSG00000188994	ENSG00000188994		"""Zinc fingers, C2H2-type"""	18410	protein-coding gene	gene with protein product						9628581	Standard	NM_015021		Approved	KIAA0530, ZFP292, bA393I2.3, Zn-15, Zn-16	uc003plm.4	O60281	OTTHUMG00000015164	ENST00000369577.3:c.587T>A	6.37:g.87943091T>A	ENSP00000358590:p.Ile196Asn					ZNF292_ENST00000339907.4_Missense_Mutation_p.I191N	p.I196N	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0199)	5	630	+		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)	196					Q5W0B2|Q7Z3L7|Q9H8G3|Q9H8J4	Missense_Mutation	SNP	ENST00000369577.3	37	c.587T>A	CCDS47457.1	.	.	.	.	.	.	.	.	.	.	T	22.2	4.254450	0.80135	.	.	ENSG00000188994	ENST00000369577;ENST00000339907	T;T	0.12039	2.72;2.74	5.36	5.36	0.76844	.	0.048603	0.85682	D	0.000000	T	0.27524	0.0676	M	0.65498	2.005	0.44515	D	0.997467	D	0.89917	1.0	D	0.80764	0.994	T	0.02698	-1.1122	10	0.87932	D	0	.	15.658	0.77158	0.0:0.0:0.0:1.0	.	196	O60281	ZN292_HUMAN	N	196;191	ENSP00000358590:I196N;ENSP00000342847:I191N	ENSP00000342847:I191N	I	+	2	0	ZNF292	87999810	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	7.183000	0.77697	2.158000	0.67659	0.460000	0.39030	ATT		0.313	ZNF292-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000376192.2	NM_015021		3	69	3	69	---	---	---	---
SMU1	55234	broad.mit.edu	37	9	33056918	33056918	+	Silent	SNP	C	C	T			TCGA-G9-6385-01A-11D-1786-08	TCGA-G9-6385-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe227d04-2285-41ff-b5b8-421a317a61c7	fc787cb2-b174-4f58-b4db-22eb3d987661	g.chr9:33056918C>T	ENST00000397149.3	-	8	962	c.912G>A	c.(910-912)agG>agA	p.R304R	SMU1_ENST00000536631.1_Silent_p.R143R	NM_018225.2	NP_060695.2	Q2TAY7	SMU1_HUMAN	smu-1 suppressor of mec-8 and unc-52 homolog (C. elegans)	304						cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.R304R(1)		endometrium(2)|lung(4)|ovary(2)|prostate(1)	9			LUSC - Lung squamous cell carcinoma(29;0.0227)	GBM - Glioblastoma multiforme(74;0.11)		TACTGTGTGCCCTCTCAAATC	0.353																																						ENST00000397149.3																			1	Substitution - coding silent(1)	p.R304R(1)	prostate(1)	endometrium(2)|lung(4)|ovary(2)|prostate(1)	9						c.(910-912)agG>agA		smu-1 suppressor of mec-8 and unc-52 homolog (C. elegans)							128.0	129.0	129.0					9																	33056918		2203	4300	6503	SO:0001819	synonymous_variant	55234					cytoplasm|nucleus		g.chr9:33056918C>T	AK001667	CCDS6534.1	9p12	2013-01-10			ENSG00000122692	ENSG00000122692		"""WD repeat domain containing"""	18247	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 57"""					11438655, 11410362	Standard	NM_018225		Approved	SMU-1, FLJ10805, BWD, fSAP57	uc003zsf.1	Q2TAY7	OTTHUMG00000019757	ENST00000397149.3:c.912G>A	9.37:g.33056918C>T						SMU1_ENST00000536631.1_Silent_p.R143R	p.R304R	NM_018225.2	NP_060695.2	Q2TAY7	SMU1_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.0227)	GBM - Glioblastoma multiforme(74;0.11)	8	962	-			304					B4E3L0|Q9BU59|Q9HA96|Q9NVD1	Silent	SNP	ENST00000397149.3	37	c.912G>A	CCDS6534.1																																																																																				0.353	SMU1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052022.1	NM_018225		12	174	12	174	---	---	---	---
APBB1	322	broad.mit.edu	37	11	6432291	6432291	+	Missense_Mutation	SNP	G	G	A	rs138898127	byFrequency	TCGA-G9-6385-01A-11D-1786-08	TCGA-G9-6385-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe227d04-2285-41ff-b5b8-421a317a61c7	fc787cb2-b174-4f58-b4db-22eb3d987661	g.chr11:6432291G>A	ENST00000609360.1	-	2	386	c.287C>T	c.(286-288)gCg>gTg	p.A96V	APBB1_ENST00000299402.6_Missense_Mutation_p.A96V|APBB1_ENST00000389906.2_Missense_Mutation_p.A96V|APBB1_ENST00000311051.3_Missense_Mutation_p.A96V	NM_001164.3	NP_001155.1	O00213	APBB1_HUMAN	amyloid beta (A4) precursor protein-binding, family B, member 1 (Fe65)	96					apoptotic process (GO:0006915)|axonogenesis (GO:0007409)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|histone H4 acetylation (GO:0043967)|negative regulation of cell growth (GO:0030308)|negative regulation of thymidylate synthase biosynthetic process (GO:0050760)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|synapse (GO:0045202)	beta-amyloid binding (GO:0001540)|chromatin binding (GO:0003682)|histone binding (GO:0042393)|proline-rich region binding (GO:0070064)|transcription factor binding (GO:0008134)	p.A96V(1)		breast(4)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|prostate(2)|skin(1)|urinary_tract(1)	24		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;6.49e-08)|BRCA - Breast invasive adenocarcinoma(625;0.194)		GGCCTCCTCCGCCAAGGTCAA	0.632																																					GBM(147;1810 2556 5672 39622)	ENST00000389906.2																			1	Substitution - Missense(1)	p.A96V(1)	prostate(1)	breast(4)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|prostate(2)|skin(1)|urinary_tract(1)	24						c.(286-288)gCg>gTg		amyloid beta (A4) precursor protein-binding, family B, member 1 (Fe65)		G	VAL/ALA,VAL/ALA	3,4399	6.2+/-15.9	0,3,2198	144.0	160.0	155.0		287,287	3.3	0.7	11	dbSNP_134	155	1,8591	1.2+/-3.3	0,1,4295	yes	missense,missense	APBB1	NM_001164.2,NM_145689.1	64,64	0,4,6493	AA,AG,GG		0.0116,0.0682,0.0308	possibly-damaging,possibly-damaging	96/711,96/709	6432291	4,12990	2201	4296	6497	SO:0001583	missense	322				apoptosis|axonogenesis|cell cycle arrest|histone H4 acetylation|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of thymidylate synthase biosynthetic process|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|response to DNA damage stimulus|signal transduction|transcription, DNA-dependent	cytoplasm|growth cone|lamellipodium|nucleus|plasma membrane|synapse	beta-amyloid binding|chromatin binding|histone binding|proline-rich region binding|transcription factor binding	g.chr11:6432291G>A	L77864	CCDS31410.1, CCDS58114.1, CCDS66015.1, CCDS66016.1, CCDS66017.1, CCDS66018.1	11p15	2008-02-01				ENSG00000166313			581	protein-coding gene	gene with protein product		602709		RIR		8955346, 8894693	Standard	NM_001164		Approved	Fe65	uc001mcy.1	O00213		ENST00000609360.1:c.287C>T	11.37:g.6432291G>A	ENSP00000477213:p.Ala96Val					APBB1_ENST00000609360.1_Missense_Mutation_p.A96V|APBB1_ENST00000311051.3_Missense_Mutation_p.A96V|APBB1_ENST00000299402.6_Missense_Mutation_p.A96V	p.A96V			O00213	APBB1_HUMAN		Epithelial(150;6.49e-08)|BRCA - Breast invasive adenocarcinoma(625;0.194)	2	386	-		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)	96					A1E379|A6NH82|A6NL69|B7Z1J5|B7Z1J6|B7Z2Y0|D3DQT2|Q7Z324|Q96A93|V9GYK0|V9GYT4	Missense_Mutation	SNP	ENST00000609360.1	37	c.287C>T		.	.	.	.	.	.	.	.	.	.	G	10.08	1.252995	0.22965	6.82E-4	1.16E-4	ENSG00000166313	ENST00000299402;ENST00000311051;ENST00000389906	T;T;T	0.14391	2.51;2.51;2.51	4.21	3.26	0.37387	.	0.343920	0.23162	N	0.051239	T	0.13970	0.0338	N	0.14661	0.345	0.20873	N	0.99984	D	0.69078	0.997	P	0.57502	0.822	T	0.13098	-1.0522	10	0.27785	T	0.31	-10.4606	10.5629	0.45156	0.1059:0.0:0.8941:0.0	.	96	O00213-2	.	V	96	ENSP00000299402:A96V;ENSP00000311912:A96V;ENSP00000374556:A96V	ENSP00000299402:A96V	A	-	2	0	APBB1	6388867	0.971000	0.33674	0.725000	0.30721	0.631000	0.37964	1.785000	0.38684	2.074000	0.62210	0.393000	0.25936	GCG		0.632	APBB1-023	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000471831.1	NM_001164		10	308	10	308	---	---	---	---
ATP5B	506	broad.mit.edu	37	12	57032140	57032140	+	Silent	SNP	T	T	C			TCGA-G9-6385-01A-11D-1786-08	TCGA-G9-6385-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe227d04-2285-41ff-b5b8-421a317a61c7	fc787cb2-b174-4f58-b4db-22eb3d987661	g.chr12:57032140T>C	ENST00000262030.3	-	10	1607	c.1557A>G	c.(1555-1557)aaA>aaG	p.K519K	BAZ2A_ENST00000179765.5_5'Flank|ATP5B_ENST00000550162.1_5'Flank|BAZ2A_ENST00000551812.1_5'Flank|BAZ2A_ENST00000379441.3_5'Flank|ATP5B_ENST00000552919.1_Silent_p.K508K	NM_001686.3	NP_001677.2	P06576	ATPB_HUMAN	ATP synthase, H+ transporting, mitochondrial F1 complex, beta polypeptide	519					angiogenesis (GO:0001525)|ATP biosynthetic process (GO:0006754)|ATP catabolic process (GO:0006200)|ATP hydrolysis coupled proton transport (GO:0015991)|cellular metabolic process (GO:0044237)|generation of precursor metabolites and energy (GO:0006091)|lipid metabolic process (GO:0006629)|mitochondrial ATP synthesis coupled proton transport (GO:0042776)|negative regulation of cell adhesion involved in substrate-bound cell migration (GO:0006933)|osteoblast differentiation (GO:0001649)|proton transport (GO:0015992)|regulation of intracellular pH (GO:0051453)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrial nucleoid (GO:0042645)|mitochondrial proton-transporting ATP synthase complex (GO:0005753)|mitochondrial proton-transporting ATP synthase, catalytic core (GO:0005754)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|MHC class I protein binding (GO:0042288)|proton-transporting ATP synthase activity, rotational mechanism (GO:0046933)|proton-transporting ATPase activity, rotational mechanism (GO:0046961)|transmembrane transporter activity (GO:0022857)|transporter activity (GO:0005215)			breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						GCTTATCAGCTTTTGCCACAG	0.448																																						ENST00000262030.3																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(1555-1557)aaA>aaG		ATP synthase, H+ transporting, mitochondrial F1 complex, beta polypeptide							183.0	172.0	176.0					12																	57032140		2203	4300	6503	SO:0001819	synonymous_variant	506				angiogenesis|ATP hydrolysis coupled proton transport|regulation of intracellular pH|respiratory electron transport chain	cell surface|mitochondrial nucleoid|mitochondrial proton-transporting ATP synthase, catalytic core|plasma membrane	ATP binding|eukaryotic cell surface binding|hydrogen ion transporting ATP synthase activity, rotational mechanism|hydrogen-exporting ATPase activity, phosphorylative mechanism|MHC class I protein binding|proton-transporting ATPase activity, rotational mechanism	g.chr12:57032140T>C	M27132	CCDS8924.1	12p13.3	2012-10-12			ENSG00000110955	ENSG00000110955	3.6.3.14	"""Mitochondrial respiratory chain complex / Complex V"", ""ATPases / F-type"""	830	protein-coding gene	gene with protein product		102910		ATPSB		2687158	Standard	NM_001686		Approved		uc001slr.3	P06576	OTTHUMG00000170291	ENST00000262030.3:c.1557A>G	12.37:g.57032140T>C						ATP5B_ENST00000552919.1_Silent_p.K508K	p.K519K	NM_001686.3	NP_001677.2	P06576	ATPB_HUMAN			10	1607	-			519					A8K4X0|Q14283	Silent	SNP	ENST00000262030.3	37	c.1557A>G	CCDS8924.1																																																																																				0.448	ATP5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408380.1	NM_001686		3	215	3	215	---	---	---	---
CTDSP2	10106	broad.mit.edu	37	12	58223322	58223322	+	Missense_Mutation	SNP	A	A	G			TCGA-G9-6385-01A-11D-1786-08	TCGA-G9-6385-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe227d04-2285-41ff-b5b8-421a317a61c7	fc787cb2-b174-4f58-b4db-22eb3d987661	g.chr12:58223322A>G	ENST00000398073.2	-	2	425	c.122T>C	c.(121-123)cTt>cCt	p.L41P	CTDSP2_ENST00000548823.1_Intron|CTDSP2_ENST00000547701.1_5'UTR	NM_005730.3	NP_005721.3	O14595	CTDS2_HUMAN	CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) small phosphatase 2	41					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|protein dephosphorylation (GO:0006470)	nucleoplasm (GO:0005654)	CTD phosphatase activity (GO:0008420)|metal ion binding (GO:0046872)	p.L41P(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|lung(1)|prostate(2)	7	all_neural(12;0.00559)|Glioma(12;0.0143)|Melanoma(17;0.122)					ACAGCAGAAAAGGGCCTTGAA	0.532																																						ENST00000398073.2																			1	Substitution - Missense(1)	p.L41P(1)	prostate(1)	breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|lung(1)|prostate(2)	7						c.(121-123)cTt>cCt		CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) small phosphatase 2							134.0	133.0	134.0					12																	58223322		2009	4168	6177	SO:0001583	missense	10106				protein dephosphorylation	nucleus|soluble fraction	CTD phosphatase activity|metal ion binding	g.chr12:58223322A>G	AF000152	CCDS41801.1	12q14.1	2012-06-14			ENSG00000175215	ENSG00000175215		"""Serine/threonine phosphatases / CTD aspartate-based phosphatases"""	17077	protein-coding gene	gene with protein product	"""conserved gene amplified in osteosarcoma"", ""nuclear LIM interactor-interacting factor 2"", ""NLI-interacting factor 2"", ""small CTD phosphatase 2"""	608711				9315096, 12721286	Standard	XM_005268556		Approved	OS4, SCP2, PSR2	uc001sqm.3	O14595	OTTHUMG00000170483	ENST00000398073.2:c.122T>C	12.37:g.58223322A>G	ENSP00000381148:p.Leu41Pro					CTDSP2_ENST00000548823.1_Intron|CTDSP2_ENST00000547701.1_5'UTR	p.L41P	NM_005730.3	NP_005721.3	O14595	CTDS2_HUMAN			2	425	-	all_neural(12;0.00559)|Glioma(12;0.0143)|Melanoma(17;0.122)		41					A8K5H4|Q53ZR2|Q6NZY3|Q9UEX1	Missense_Mutation	SNP	ENST00000398073.2	37	c.122T>C	CCDS41801.1	.	.	.	.	.	.	.	.	.	.	A	21.6	4.166903	0.78339	.	.	ENSG00000175215	ENST00000398073	T	0.24151	1.87	4.68	4.68	0.58851	.	0.123947	0.56097	D	0.000035	T	0.50820	0.1638	M	0.78456	2.415	0.80722	D	1	D	0.76494	0.999	D	0.73380	0.98	T	0.56709	-0.7934	10	0.87932	D	0	-4.8205	13.5101	0.61506	1.0:0.0:0.0:0.0	.	41	O14595	CTDS2_HUMAN	P	41	ENSP00000381148:L41P	ENSP00000381148:L41P	L	-	2	0	CTDSP2	56509589	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.124000	0.71620	2.094000	0.63399	0.533000	0.62120	CTT		0.532	CTDSP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409353.1	NM_005730		3	123	3	123	---	---	---	---
LGR5	8549	broad.mit.edu	37	12	71977709	71977709	+	Missense_Mutation	SNP	T	T	C	rs372546802		TCGA-G9-6385-01A-11D-1786-08	TCGA-G9-6385-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe227d04-2285-41ff-b5b8-421a317a61c7	fc787cb2-b174-4f58-b4db-22eb3d987661	g.chr12:71977709T>C	ENST00000266674.5	+	18	2230	c.1919T>C	c.(1918-1920)aTt>aCt	p.I640T	LGR5_ENST00000540815.2_Missense_Mutation_p.I616T|LGR5_ENST00000536515.1_Missense_Mutation_p.I568T|RP11-186F10.2_ENST00000546601.1_RNA			O75473	LGR5_HUMAN	leucine-rich repeat containing G protein-coupled receptor 5	640					G-protein coupled receptor signaling pathway (GO:0007186)|inner ear development (GO:0048839)|positive regulation of canonical Wnt signaling pathway (GO:0090263)	integral component of plasma membrane (GO:0005887)|trans-Golgi network membrane (GO:0032588)	G-protein coupled receptor activity (GO:0004930)|transmembrane signaling receptor activity (GO:0004888)	p.I640T(1)	NUP107/LGR5(2)	endometrium(2)|kidney(3)|large_intestine(2)|lung(24)|ovary(1)|pancreas(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	48						TGCCATGTCATTGGTTTTTTG	0.493																																						ENST00000266674.5																		NUP107/LGR5(2)	1	Substitution - Missense(1)	p.I640T(1)	prostate(1)	endometrium(2)|kidney(3)|large_intestine(2)|lung(24)|ovary(1)|pancreas(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(3)	48						c.(1918-1920)aTt>aCt		leucine-rich repeat containing G protein-coupled receptor 5		T	THR/ILE	1,4405	2.1+/-5.4	0,1,2202	188.0	142.0	158.0		1919	3.6	0.0	12		158	0,8600		0,0,4300	no	missense	LGR5	NM_003667.2	89	0,1,6502	CC,CT,TT		0.0,0.0227,0.0077	benign	640/908	71977709	1,13005	2203	4300	6503	SO:0001583	missense	8549					integral to plasma membrane	protein-hormone receptor activity	g.chr12:71977709T>C	AF062006	CCDS9000.1, CCDS61194.1, CCDS61195.1	12q22-q23	2012-08-21	2011-01-25	2004-11-12				"""GPCR / Class A : Orphans"""	4504	protein-coding gene	gene with protein product		606667	"""G protein-coupled receptor 49"", ""leucine-rich repeat-containing G protein-coupled receptor 5"""	GPR67, GPR49		9642114	Standard	NM_003667		Approved	HG38, FEX	uc001swl.4	O75473	OTTHUMG00000169543	ENST00000266674.5:c.1919T>C	12.37:g.71977709T>C	ENSP00000266674:p.Ile640Thr					LGR5_ENST00000536515.1_Missense_Mutation_p.I568T|LGR5_ENST00000540815.2_Missense_Mutation_p.I616T	p.I640T			O75473	LGR5_HUMAN			18	2230	+			640					D8MCT0|Q4VAM0|Q4VAM2|Q9UP75	Missense_Mutation	SNP	ENST00000266674.5	37	c.1919T>C	CCDS9000.1	.	.	.	.	.	.	.	.	.	.	T	0.040	-1.286619	0.01387	2.27E-4	0.0	ENSG00000139292	ENST00000266674;ENST00000451585;ENST00000536515;ENST00000540815	T;T;T	0.80214	-1.35;-1.35;-1.35	5.95	3.61	0.41365	GPCR, rhodopsin-like superfamily (1);	0.545185	0.17295	N	0.179484	T	0.39708	0.1088	N	0.00128	-2.045	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.43458	-0.9390	10	0.15952	T	0.53	.	6.141	0.20259	0.0:0.3374:0.0:0.6626	.	616;640	O75473-2;O75473	.;LGR5_HUMAN	T	640;640;568;616	ENSP00000266674:I640T;ENSP00000443033:I568T;ENSP00000441035:I616T	ENSP00000266674:I640T	I	+	2	0	LGR5	70263976	0.604000	0.26932	0.005000	0.12908	0.934000	0.57294	2.673000	0.46858	1.071000	0.40834	0.533000	0.62120	ATT		0.493	LGR5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404744.1	NM_003667		21	57	21	57	---	---	---	---
APOPT1	84334	broad.mit.edu	37	14	104056568	104056568	+	Missense_Mutation	SNP	C	C	A	rs529483936		TCGA-G9-6385-01A-11D-1786-08	TCGA-G9-6385-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe227d04-2285-41ff-b5b8-421a317a61c7	fc787cb2-b174-4f58-b4db-22eb3d987661	g.chr14:104056568C>A	ENST00000409074.2	+	5	567	c.566C>A	c.(565-567)gCc>gAc	p.A189D	RP11-73M18.2_ENST00000472726.2_Intron|APOPT1_ENST00000556253.2_3'UTR|APOPT1_ENST00000247618.4_Missense_Mutation_p.A176D|APOPT1_ENST00000477116.1_3'UTR	NM_032374.3	NP_115750.2	Q96IL0	APOP1_HUMAN	apoptogenic 1, mitochondrial	189					intrinsic apoptotic signaling pathway (GO:0097193)|positive regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043280)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of smooth muscle cell apoptotic process (GO:0034393)	mitochondrion (GO:0005739)											GGAAAAGTGGCCCTGGAAAGG	0.498																																						ENST00000409074.2																			0											c.(565-567)gCc>gAc		apoptogenic 1, mitochondrial							165.0	167.0	167.0					14																	104056568		2203	4300	6503	SO:0001583	missense	84334							g.chr14:104056568C>A	BC007412	CCDS9983.2	14q32.33	2012-06-28	2012-06-28	2011-09-07	ENSG00000256053	ENSG00000256053			20492	protein-coding gene	gene with protein product	"""apoptogenic protein 1"""		"""chromosome 14 open reading frame 153"", ""apoptogenic 1"""	C14orf153		16782708, 18977203	Standard	NM_032374		Approved	MGC2562, APOP-1		Q96IL0	OTTHUMG00000153929	ENST00000409074.2:c.566C>A	14.37:g.104056568C>A	ENSP00000386485:p.Ala189Asp					APOPT1_ENST00000247618.4_Missense_Mutation_p.A176D|APOPT1_ENST00000477116.1_3'UTR|RP11-73M18.2_ENST00000472726.2_Intron|APOPT1_ENST00000556253.2_3'UTR	p.A189D	NM_032374.3	NP_115750.2					5	567	+								Q53G28	Missense_Mutation	SNP	ENST00000409074.2	37	c.566C>A	CCDS9983.2	.	.	.	.	.	.	.	.	.	.	C	13.92	2.382272	0.42207	.	.	ENSG00000256053;ENSG00000256053;ENSG00000256500	ENST00000409074;ENST00000440963;ENST00000247618	T;T;T	0.41065	1.01;1.01;1.01	5.66	2.85	0.33270	.	0.215910	0.37715	N	0.001961	T	0.30039	0.0752	L	0.34521	1.04	0.24980	N	0.9916	P	0.43477	0.808	B	0.41135	0.348	T	0.08472	-1.0720	10	0.35671	T	0.21	.	8.2787	0.31887	0.0:0.7491:0.0:0.2509	.	189	Q96IL0	APOP1_HUMAN	D	189;101;176	ENSP00000386485:A189D;ENSP00000388067:A101D;ENSP00000247618:A176D	ENSP00000247618:A176D	A	+	2	0	C14orf153;RP11-73M18.2	103126321	0.985000	0.35326	0.518000	0.27811	0.203000	0.24098	1.723000	0.38053	0.321000	0.23259	-0.136000	0.14681	GCC		0.498	APOPT1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333060.2	NM_032374		4	191	4	191	---	---	---	---
NFE2L1	4779	broad.mit.edu	37	17	46128887	46128887	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6385-01A-11D-1786-08	TCGA-G9-6385-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe227d04-2285-41ff-b5b8-421a317a61c7	fc787cb2-b174-4f58-b4db-22eb3d987661	g.chr17:46128887C>A	ENST00000362042.3	+	2	1023	c.407C>A	c.(406-408)cCa>cAa	p.P136Q	NFE2L1_ENST00000585291.1_Missense_Mutation_p.P136Q|NFE2L1_ENST00000357480.5_Missense_Mutation_p.P136Q|NFE2L1_ENST00000361665.3_Missense_Mutation_p.P136Q	NM_003204.2	NP_003195.1	Q14494	NF2L1_HUMAN	nuclear factor, erythroid 2-like 1	136	Asp/Glu-rich (acidic).				anatomical structure morphogenesis (GO:0009653)|erythrocyte differentiation (GO:0030218)|heme biosynthetic process (GO:0006783)|inflammatory response (GO:0006954)|transcription from RNA polymerase II promoter (GO:0006366)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription cofactor activity (GO:0003712)	p.P136Q(1)		cervix(1)|endometrium(3)|kidney(9)|large_intestine(7)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						GTGACAGGCCCAGACAACGGG	0.592																																						ENST00000362042.3																			1	Substitution - Missense(1)	p.P136Q(1)	prostate(1)	cervix(1)|endometrium(3)|kidney(9)|large_intestine(7)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						c.(406-408)cCa>cAa		nuclear factor, erythroid 2-like 1							65.0	73.0	70.0					17																	46128887		2203	4300	6503	SO:0001583	missense	4779				anatomical structure morphogenesis|heme biosynthetic process|inflammatory response|transcription from RNA polymerase II promoter	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription cofactor activity	g.chr17:46128887C>A	AK090459	CCDS11524.1	17q21.3	2013-08-23	2013-08-23			ENSG00000082641		"""basic leucine zipper proteins"""	7781	protein-coding gene	gene with protein product		163260	"""nuclear factor (erythroid-derived 2)-like 1"""	TCF11		8248256, 9501099	Standard	NM_003204		Approved	NRF1, LCR-F1, FLJ00380	uc002imz.4	Q14494		ENST00000362042.3:c.407C>A	17.37:g.46128887C>A	ENSP00000354855:p.Pro136Gln					NFE2L1_ENST00000357480.5_Missense_Mutation_p.P136Q|NFE2L1_ENST00000361665.3_Missense_Mutation_p.P136Q|NFE2L1_ENST00000585291.1_Missense_Mutation_p.P136Q	p.P136Q	NM_003204.2	NP_003195.1	Q14494	NF2L1_HUMAN			2	1023	+			136			Asp/Glu-rich (acidic).		D3DTU3|D3DTU5|Q12877|Q96FN6	Missense_Mutation	SNP	ENST00000362042.3	37	c.407C>A	CCDS11524.1	.	.	.	.	.	.	.	.	.	.	C	16.86	3.239991	0.58995	.	.	ENSG00000082641	ENST00000362042;ENST00000361665;ENST00000357480	T;T	0.47869	0.83;0.83	5.3	5.3	0.74995	.	0.783877	0.11979	N	0.510972	T	0.51719	0.1691	L	0.44542	1.39	0.80722	D	1	P;P;P	0.46512	0.879;0.527;0.549	P;B;B	0.48270	0.572;0.354;0.265	T	0.40079	-0.9582	10	0.27785	T	0.31	-2.6793	17.7252	0.88363	0.0:1.0:0.0:0.0	.	136;136;136	A3KMG6;Q14494-2;Q14494	.;.;NF2L1_HUMAN	Q	155;136;136	ENSP00000355190:P136Q;ENSP00000350072:P136Q	ENSP00000350072:P136Q	P	+	2	0	NFE2L1	43483886	0.997000	0.39634	1.000000	0.80357	0.995000	0.86356	3.502000	0.53332	2.495000	0.84180	0.563000	0.77884	CCA		0.592	NFE2L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443019.1	NM_003204		4	88	4	88	---	---	---	---
ZNF562	54811	broad.mit.edu	37	19	9771402	9771402	+	Missense_Mutation	SNP	A	A	T			TCGA-G9-6385-01A-11D-1786-08	TCGA-G9-6385-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe227d04-2285-41ff-b5b8-421a317a61c7	fc787cb2-b174-4f58-b4db-22eb3d987661	g.chr19:9771402A>T	ENST00000448622.1	-	2	181	c.19T>A	c.(19-21)Tcc>Acc	p.S7T	ZNF562_ENST00000541032.1_5'UTR|ZNF562_ENST00000590155.1_Missense_Mutation_p.S7T|ZNF562_ENST00000587392.1_Missense_Mutation_p.S7T|ZNF562_ENST00000293648.4_Missense_Mutation_p.S7T|ZNF562_ENST00000453792.2_Intron|ZNF562_ENST00000537617.1_5'UTR|ZNF562_ENST00000453372.2_Missense_Mutation_p.S7T	NM_001130031.1|NM_001130032.1	NP_001123503.1|NP_001123504.1	Q6V9R5	ZN562_HUMAN	zinc finger protein 562	7					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.S7T(2)		NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	17						TTACCATGGGACATATCAAAG	0.488																																						ENST00000448622.1																			2	Substitution - Missense(2)	p.S7T(2)	prostate(2)	NS(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	17						c.(19-21)Tcc>Acc		zinc finger protein 562							270.0	229.0	243.0					19																	9771402		2203	4300	6503	SO:0001583	missense	54811				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:9771402A>T	AK000086	CCDS12217.1, CCDS45956.1, CCDS74280.1	19p13.2	2013-09-20			ENSG00000171466	ENSG00000171466		"""Zinc fingers, C2H2-type"", ""-"""	25950	protein-coding gene	gene with protein product							Standard	NM_001130031		Approved	FLJ20079	uc010xks.2	Q6V9R5	OTTHUMG00000180205	ENST00000448622.1:c.19T>A	19.37:g.9771402A>T	ENSP00000411784:p.Ser7Thr					ZNF562_ENST00000453372.2_Missense_Mutation_p.S7T|ZNF562_ENST00000587392.1_Missense_Mutation_p.S7T|ZNF562_ENST00000590155.1_Missense_Mutation_p.S7T|ZNF562_ENST00000293648.4_Missense_Mutation_p.S7T|ZNF562_ENST00000541032.1_5'UTR|ZNF562_ENST00000537617.1_5'UTR|ZNF562_ENST00000453792.2_Intron	p.S7T	NM_001130031.1|NM_001130032.1	NP_001123503.1|NP_001123504.1	Q6V9R5	ZN562_HUMAN			2	181	-			7					Q32MN2|Q9NXS5	Missense_Mutation	SNP	ENST00000448622.1	37	c.19T>A	CCDS45956.1	.	.	.	.	.	.	.	.	.	.	A	4.257	0.046716	0.08243	.	.	ENSG00000171466	ENST00000453372;ENST00000448622;ENST00000293648	T;T;T	0.09723	2.95;2.95;3.23	1.55	1.55	0.23275	.	.	.	.	.	T	0.15739	0.0379	L	0.29908	0.895	0.19575	N	0.999966	P;P;B	0.46578	0.805;0.88;0.0	P;P;B	0.62184	0.827;0.899;0.0	T	0.14559	-1.0468	9	0.45353	T	0.12	.	5.182	0.15165	1.0:0.0:0.0:0.0	.	7;7;7	B4DMG0;Q6V9R5;Q6V9R5-2	.;ZN562_HUMAN;.	T	7	ENSP00000410734:S7T;ENSP00000411784:S7T;ENSP00000293648:S7T	ENSP00000293648:S7T	S	-	1	0	ZNF562	9632402	0.000000	0.05858	0.003000	0.11579	0.022000	0.10575	-0.363000	0.07593	0.958000	0.37956	0.254000	0.18369	TCC		0.488	ZNF562-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000450239.1	NM_017656		5	213	5	213	---	---	---	---
CCDC105	126402	broad.mit.edu	37	19	15131324	15131324	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6385-01A-11D-1786-08	TCGA-G9-6385-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe227d04-2285-41ff-b5b8-421a317a61c7	fc787cb2-b174-4f58-b4db-22eb3d987661	g.chr19:15131324C>A	ENST00000292574.3	+	3	809	c.727C>A	c.(727-729)Caa>Aaa	p.Q243K		NM_173482.2	NP_775753.2	Q8IYK2	CC105_HUMAN	coiled-coil domain containing 105	243						extracellular vesicular exosome (GO:0070062)		p.Q243K(1)		NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(4)|skin(2)	23						GGAGCGGCTCCAAGCCGTGGA	0.617																																						ENST00000292574.3																			1	Substitution - Missense(1)	p.Q243K(1)	prostate(1)	NS(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)|ovary(1)|prostate(4)|skin(2)	23						c.(727-729)Caa>Aaa		coiled-coil domain containing 105							51.0	46.0	48.0					19																	15131324		2203	4300	6503	SO:0001583	missense	126402				microtubule cytoskeleton organization	microtubule		g.chr19:15131324C>A	AK097684	CCDS12322.1	19p13.12	2008-02-05				ENSG00000160994			26866	protein-coding gene	gene with protein product						12477932	Standard	NM_173482		Approved	FLJ40365	uc002nae.2	Q8IYK2		ENST00000292574.3:c.727C>A	19.37:g.15131324C>A	ENSP00000292574:p.Gln243Lys						p.Q243K	NM_173482.2	NP_775753.2	Q8IYK2	CC105_HUMAN			3	809	+			243					Q8N7T5|Q8NDL5	Missense_Mutation	SNP	ENST00000292574.3	37	c.727C>A	CCDS12322.1	.	.	.	.	.	.	.	.	.	.	C	12.21	1.869690	0.33069	.	.	ENSG00000160994	ENST00000292574	T	0.02323	4.34	4.09	4.09	0.47781	.	0.000000	0.50627	D	0.000113	T	0.09024	0.0223	M	0.65975	2.015	0.25256	N	0.989634	D	0.65815	0.995	P	0.61722	0.893	T	0.18085	-1.0348	10	0.11485	T	0.65	-17.0275	12.2139	0.54396	0.0:1.0:0.0:0.0	.	243	Q8IYK2	CC105_HUMAN	K	243	ENSP00000292574:Q243K	ENSP00000292574:Q243K	Q	+	1	0	CCDC105	14992324	0.998000	0.40836	0.956000	0.39512	0.038000	0.13279	3.739000	0.55075	1.982000	0.57802	0.558000	0.71614	CAA		0.617	CCDC105-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466293.1	NM_173482		4	39	4	39	---	---	---	---
ZNF766	90321	broad.mit.edu	37	19	52793389	52793389	+	Silent	SNP	G	G	A			TCGA-G9-6385-01A-11D-1786-08	TCGA-G9-6385-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe227d04-2285-41ff-b5b8-421a317a61c7	fc787cb2-b174-4f58-b4db-22eb3d987661	g.chr19:52793389G>A	ENST00000439461.1	+	4	388	c.345G>A	c.(343-345)caG>caA	p.Q115Q	ZNF766_ENST00000359102.4_Silent_p.Q130Q|ZNF766_ENST00000593612.1_Silent_p.Q130Q|ZNF766_ENST00000599581.1_3'UTR|CTD-2525I3.5_ENST00000594865.1_RNA	NM_001010851.2	NP_001010851.1	Q5HY98	ZN766_HUMAN	zinc finger protein 766	115					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.Q115Q(1)		breast(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)	17				GBM - Glioblastoma multiforme(134;0.00236)|OV - Ovarian serous cystadenocarcinoma(262;0.00871)		TAACCTTTCAGTTACCTCTGC	0.398																																						ENST00000439461.1																			1	Substitution - coding silent(1)	p.Q115Q(1)	prostate(1)	breast(1)|endometrium(6)|kidney(1)|large_intestine(3)|lung(5)|prostate(1)	17						c.(343-345)caG>caA		zinc finger protein 766							80.0	82.0	81.0					19																	52793389		1997	4202	6199	SO:0001819	synonymous_variant	90321				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:52793389G>A	AK024074	CCDS46163.1	19q13.33	2013-01-08				ENSG00000196214		"""Zinc fingers, C2H2-type"", ""-"""	28063	protein-coding gene	gene with protein product							Standard	XM_006723458		Approved		uc002pyr.1	Q5HY98		ENST00000439461.1:c.345G>A	19.37:g.52793389G>A						ZNF766_ENST00000593612.1_Silent_p.Q130Q|ZNF766_ENST00000599581.1_3'UTR|ZNF766_ENST00000359102.4_Silent_p.Q130Q|CTD-2525I3.5_ENST00000594865.1_RNA	p.Q115Q	NM_001010851.2	NP_001010851.1	Q5HY98	ZN766_HUMAN		GBM - Glioblastoma multiforme(134;0.00236)|OV - Ovarian serous cystadenocarcinoma(262;0.00871)	4	388	+			115					B2RNE0|Q7Z326	Silent	SNP	ENST00000439461.1	37	c.345G>A	CCDS46163.1																																																																																				0.398	ZNF766-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462764.1	NM_001010851		4	67	4	67	---	---	---	---
CCT8L2	150160	broad.mit.edu	37	22	17072553	17072553	+	Missense_Mutation	SNP	C	C	A			TCGA-G9-6385-01A-11D-1786-08	TCGA-G9-6385-10A-01D-1786-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	fe227d04-2285-41ff-b5b8-421a317a61c7	fc787cb2-b174-4f58-b4db-22eb3d987661	g.chr22:17072553C>A	ENST00000359963.3	-	1	1147	c.888G>T	c.(886-888)ttG>ttT	p.L296F		NM_014406.4	NP_055221.1	Q96SF2	TCPQM_HUMAN	chaperonin containing TCP1, subunit 8 (theta)-like 2	296					anion transport (GO:0006820)|cellular protein metabolic process (GO:0044267)|potassium ion transmembrane transport (GO:0071805)|transport (GO:0006810)	cytoplasm (GO:0005737)	anion channel activity (GO:0005253)|ATP binding (GO:0005524)|calcium-activated potassium channel activity (GO:0015269)			breast(3)|endometrium(7)|kidney(1)|large_intestine(8)|liver(2)|lung(37)|ovary(3)|prostate(3)|skin(2)|stomach(1)	67	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)				CGACCTCCCCCAACACCACTG	0.493																																						ENST00000359963.3																			0				breast(3)|endometrium(7)|kidney(1)|large_intestine(8)|liver(2)|lung(37)|ovary(3)|prostate(3)|skin(2)|stomach(1)	67						c.(886-888)ttG>ttT		chaperonin containing TCP1, subunit 8 (theta)-like 2							207.0	184.0	192.0					22																	17072553		2203	4300	6503	SO:0001583	missense	150160				cellular protein metabolic process	cytoplasm	anion channel activity|ATP binding|calcium-activated potassium channel activity	g.chr22:17072553C>A	AP003553	CCDS13738.1	22q11.1	2011-09-01			ENSG00000198445	ENSG00000198445			15553	protein-coding gene	gene with protein product							Standard	NM_014406		Approved	CESK1	uc002zlp.1	Q96SF2	OTTHUMG00000141302	ENST00000359963.3:c.888G>T	22.37:g.17072553C>A	ENSP00000353048:p.Leu296Phe						p.L296F	NM_014406.4	NP_055221.1	Q96SF2	TCPQM_HUMAN			1	1147	-	all_hematologic(4;0.00567)|Acute lymphoblastic leukemia(84;0.0977)	all_epithelial(15;0.0157)|Lung NSC(13;0.147)|all_lung(157;0.175)	296					A4QPH3|Q9UJS3	Missense_Mutation	SNP	ENST00000359963.3	37	c.888G>T	CCDS13738.1	.	.	.	.	.	.	.	.	.	.	c	10.10	1.256471	0.22965	.	.	ENSG00000198445	ENST00000359963	T	0.78816	-1.21	1.98	1.98	0.26296	.	0.697010	0.11886	U	0.520009	T	0.62392	0.2424	N	0.22421	0.69	0.23700	N	0.997075	B	0.25904	0.137	B	0.23018	0.043	T	0.55541	-0.8125	10	0.56958	D	0.05	-6.2386	7.4423	0.27190	0.0:1.0:0.0:0.0	.	296	Q96SF2	TCPQM_HUMAN	F	296	ENSP00000353048:L296F	ENSP00000353048:L296F	L	-	3	2	CCT8L2	15452553	0.359000	0.24955	0.286000	0.24833	0.029000	0.11900	0.793000	0.26944	1.115000	0.41800	0.379000	0.24179	TTG		0.493	CCT8L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280580.1			5	233	5	233	---	---	---	---
