#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	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
DLGAP1	9229	broad.mit.edu	37	18	3879613	3879613	+	Silent	SNP	C	C	T			TCGA-E8-A438-01A-11D-A23U-08	TCGA-E8-A438-10B-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4d31231-1d29-49cd-98d7-a658b3a6460f	01117f3f-623d-4fb0-b04f-0601015e88a3	g.chr18:3879613C>T	ENST00000315677.3	-	4	1051	c.456G>A	c.(454-456)tcG>tcA	p.S152S	DLGAP1_ENST00000515196.2_Silent_p.S152S|DLGAP1-AS3_ENST00000577649.1_RNA|DLGAP1_ENST00000584874.1_Silent_p.S152S|DLGAP1_ENST00000581527.1_Silent_p.S152S	NM_004746.3	NP_004737.2	O14490	DLGP1_HUMAN	discs, large (Drosophila) homolog-associated protein 1	152					synaptic transmission (GO:0007268)	cell junction (GO:0030054)|neuronal postsynaptic density (GO:0097481)|postsynaptic membrane (GO:0045211)				breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	56		Colorectal(8;0.0257)				CCAGGGAGTGCGACTTGGTGA	0.687																																						ENST00000315677.3																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(5)|lung(31)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(6)|urinary_tract(1)	56						c.(454-456)tcG>tcA		discs, large (Drosophila) homolog-associated protein 1							60.0	70.0	67.0					18																	3879613		2203	4300	6503	SO:0001819	synonymous_variant	9229				synaptic transmission	cell junction|postsynaptic density|postsynaptic membrane		g.chr18:3879613C>T	AB000277	CCDS11836.1, CCDS42406.1, CCDS56049.1, CCDS56050.1, CCDS56051.1, CCDS56052.1, CCDS56053.1, CCDS74191.1	18p11.3	2008-07-28	2001-11-28		ENSG00000170579	ENSG00000170579			2905	protein-coding gene	gene with protein product		605445	"""discs, large (Drosophila) homolog-associated protein 1"""			9024696, 9286858	Standard	NM_004746		Approved	GKAP, SAPAP1, DAP-1	uc002kmf.3	O14490	OTTHUMG00000131537	ENST00000315677.3:c.456G>A	18.37:g.3879613C>T						DLGAP1_ENST00000584874.1_Silent_p.S152S|DLGAP1_ENST00000581527.1_Silent_p.S152S|DLGAP1-AS3_ENST00000577649.1_RNA|DLGAP1_ENST00000515196.2_Silent_p.S152S	p.S152S	NM_004746.3	NP_004737.2	O14490	DLGP1_HUMAN			4	1051	-		Colorectal(8;0.0257)	152					A8MWN8|B2RMU8|B7WPA1|B7Z2H2|B7Z2I2|B7Z9Y4|O14489|P78335	Silent	SNP	ENST00000315677.3	37	c.456G>A	CCDS11836.1																																																																																				0.687	DLGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254394.4			4	181	0	0	0	1	0	4	181				
BBS7	55212	broad.mit.edu	37	4	122770040	122770040	+	Missense_Mutation	SNP	C	C	T			TCGA-E8-A438-01A-11D-A23U-08	TCGA-E8-A438-10B-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4d31231-1d29-49cd-98d7-a658b3a6460f	01117f3f-623d-4fb0-b04f-0601015e88a3	g.chr4:122770040C>T	ENST00000264499.4	-	9	1076	c.893G>A	c.(892-894)gGa>gAa	p.G298E	BBS7_ENST00000506636.1_Missense_Mutation_p.G298E	NM_176824.2	NP_789794.1	Q8IWZ6	BBS7_HUMAN	Bardet-Biedl syndrome 7	298					brain development (GO:0007420)|cilium morphogenesis (GO:0060271)|determination of left/right symmetry (GO:0007368)|digestive tract morphogenesis (GO:0048546)|eye development (GO:0001654)|fat cell differentiation (GO:0045444)|heart looping (GO:0001947)|limb development (GO:0060173)|melanosome transport (GO:0032402)|nonmotile primary cilium assembly (GO:0035058)|palate development (GO:0060021)|pigment granule aggregation in cell center (GO:0051877)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|protein transport (GO:0015031)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|smoothened signaling pathway (GO:0007224)|visual perception (GO:0007601)	axoneme (GO:0005930)|BBSome (GO:0034464)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	RNA polymerase II repressing transcription factor binding (GO:0001103)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(11)|ovary(2)|prostate(1)|skin(2)	30						GCTGTCTTTTCCTACACAACC	0.318									Bardet-Biedl syndrome																													ENST00000264499.4																			0				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(11)|ovary(2)|prostate(1)|skin(2)	30						c.(892-894)gGa>gAa		Bardet-Biedl syndrome 7							123.0	122.0	122.0					4																	122770040		2203	4300	6503	SO:0001583	missense	0	Bardet-Biedl syndrome	Familial Cancer Database	BBS, Bardet-Biedl syndrome, type 1-12: BBS1-12,Laurence-Moon-Biedl syndrome	cilium morphogenesis|digestive tract morphogenesis|fat cell differentiation|heart looping|melanosome transport|pigment granule aggregation in cell center|response to stimulus|visual perception	BBSome|centrosome|cilium membrane	protein binding	g.chr4:122770040C>T	AF521644	CCDS3724.1, CCDS54799.1	4q27	2013-01-08			ENSG00000138686	ENSG00000138686			18758	protein-coding gene	gene with protein product		607590					Standard	NM_176824		Approved	FLJ10715, BBS2L1	uc003ied.3	Q8IWZ6	OTTHUMG00000133076	ENST00000264499.4:c.893G>A	4.37:g.122770040C>T	ENSP00000264499:p.Gly298Glu					BBS7_ENST00000506636.1_Missense_Mutation_p.G298E	p.G298E	NM_176824.2	NP_789794.1	Q8IWZ6	BBS7_HUMAN			9	1076	-			298					Q4W5P8|Q8N581|Q9NVI4	Missense_Mutation	SNP	ENST00000264499.4	37	c.893G>A	CCDS3724.1	.	.	.	.	.	.	.	.	.	.	C	25.3	4.628467	0.87560	.	.	ENSG00000138686	ENST00000264499;ENST00000506636	D;D	0.93763	-3.28;-3.28	5.45	5.45	0.79879	WD40 repeat-like-containing domain (1);	0.000000	0.85682	D	0.000000	D	0.94827	0.8329	M	0.80183	2.485	0.80722	D	1	P	0.51537	0.946	P	0.48921	0.595	D	0.93617	0.6944	10	0.28530	T	0.3	-11.5282	19.266	0.93985	0.0:1.0:0.0:0.0	.	298	Q8IWZ6	BBS7_HUMAN	E	298	ENSP00000264499:G298E;ENSP00000423626:G298E	ENSP00000264499:G298E	G	-	2	0	BBS7	122989490	1.000000	0.71417	1.000000	0.80357	0.465000	0.32709	7.237000	0.78164	2.561000	0.86390	0.591000	0.81541	GGA		0.318	BBS7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256716.1			26	58	0	0	0	1	0	26	58				
FRG1B	284802	broad.mit.edu	37	20	29628236	29628236	+	Missense_Mutation	SNP	G	G	C			TCGA-E8-A438-01A-11D-A23U-08	TCGA-E8-A438-10B-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4d31231-1d29-49cd-98d7-a658b3a6460f	01117f3f-623d-4fb0-b04f-0601015e88a3	g.chr20:29628236G>C	ENST00000278882.3	+	6	618	c.238G>C	c.(238-240)Gct>Cct	p.A80P	FRG1B_ENST00000439954.2_Missense_Mutation_p.A85P|FRG1B_ENST00000358464.4_Missense_Mutation_p.A80P			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	80								p.A80P(8)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GGGGAAAATGGCTTTGTTGGC	0.363																																						ENST00000278882.3																			8	Substitution - Missense(8)	p.A80P(8)	prostate(4)|kidney(4)	endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(238-240)Gct>Cct																																						SO:0001583	missense	0							g.chr20:29628236G>C			20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.238G>C	20.37:g.29628236G>C	ENSP00000278882:p.Ala80Pro					FRG1B_ENST00000358464.4_Missense_Mutation_p.A80P|FRG1B_ENST00000439954.2_Missense_Mutation_p.A85P	p.A80P							6	618	+								C4AME5	Missense_Mutation	SNP	ENST00000278882.3	37	c.238G>C		.	.	.	.	.	.	.	.	.	.	g	15.73	2.920277	0.52653	.	.	ENSG00000149531	ENST00000278882;ENST00000439954;ENST00000358464	T	0.57595	0.39	2.08	2.08	0.27032	Actin cross-linking (1);	0.052409	0.85682	D	0.000000	T	0.68952	0.3057	.	.	.	0.80722	D	1	D;D	0.64830	0.994;0.988	D;D	0.85130	0.997;0.993	T	0.72766	-0.4194	9	0.87932	D	0	.	10.2211	0.43198	0.0:0.0:1.0:0.0	.	85;80	F5H5R5;Q9BZ01	.;FRG1B_HUMAN	P	80;85;80	ENSP00000408863:A85P	ENSP00000278882:A80P	A	+	1	0	FRG1B	28241897	1.000000	0.71417	1.000000	0.80357	0.334000	0.28698	8.494000	0.90477	1.475000	0.48197	0.423000	0.28283	GCT		0.363	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		10	221	0	0	0	1	0	10	221				
FCRL3	115352	broad.mit.edu	37	1	157665945	157665945	+	Silent	SNP	C	C	T			TCGA-E8-A438-01A-11D-A23U-08	TCGA-E8-A438-10B-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4d31231-1d29-49cd-98d7-a658b3a6460f	01117f3f-623d-4fb0-b04f-0601015e88a3	g.chr1:157665945C>T	ENST00000368184.3	-	7	1308	c.1017G>A	c.(1015-1017)ctG>ctA	p.L339L	RP11-367J7.3_ENST00000453692.1_RNA|FCRL3_ENST00000473231.1_5'UTR|FCRL3_ENST00000368186.5_Silent_p.L339L	NM_052939.3	NP_443171.2	Q96P31	FCRL3_HUMAN	Fc receptor-like 3	339	Ig-like C2-type 4.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(1)|large_intestine(13)|lung(31)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)	69	all_hematologic(112;0.0378)					GCTCTGCCAACAGGGAACGCT	0.522																																						ENST00000368184.3																			0				autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(1)|large_intestine(13)|lung(31)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)	69						c.(1015-1017)ctG>ctA		Fc receptor-like 3							138.0	122.0	127.0					1																	157665945		2203	4300	6503	SO:0001819	synonymous_variant	115352					integral to membrane|plasma membrane	receptor activity	g.chr1:157665945C>T	AF459027	CCDS1167.1	1q21-q22	2013-01-11			ENSG00000160856	ENSG00000160856		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	18506	protein-coding gene	gene with protein product		606510				11493702, 12014205	Standard	XR_241065		Approved	FCRH3, IRTA3, IFGP3, SPAP2a, SPAP2, SPAP2b, SPAP2c, SPAP2d, SPAP2e, CD307c	uc001frb.3	Q96P31	OTTHUMG00000019400	ENST00000368184.3:c.1017G>A	1.37:g.157665945C>T						FCRL3_ENST00000368186.5_Silent_p.L339L|FCRL3_ENST00000473231.1_5'UTR|RP11-367J7.3_ENST00000453692.1_RNA	p.L339L	NM_052939.3	NP_443171.2	Q96P31	FCRL3_HUMAN			7	1308	-	all_hematologic(112;0.0378)		339			Ig-like C2-type 4.		A0N0M4|A8MTH7|D3DVD2|Q5VXZ8|Q8N6S2|Q96LA4|Q96P27|Q96P28|Q96P29|Q96P30	Silent	SNP	ENST00000368184.3	37	c.1017G>A	CCDS1167.1																																																																																				0.522	FCRL3-006	NOVEL	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051419.2	NM_052939		26	70	0	0	0	1	0	26	70				
SYNPO2	171024	broad.mit.edu	37	4	119810267	119810267	+	Missense_Mutation	SNP	G	G	A			TCGA-E8-A438-01A-11D-A23U-08	TCGA-E8-A438-10B-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4d31231-1d29-49cd-98d7-a658b3a6460f	01117f3f-623d-4fb0-b04f-0601015e88a3	g.chr4:119810267G>A	ENST00000429713.2	+	1	258	c.76G>A	c.(76-78)Gag>Aag	p.E26K	SYNPO2_ENST00000307142.4_Missense_Mutation_p.E26K|SYNPO2_ENST00000434046.2_Missense_Mutation_p.E26K|SYNPO2_ENST00000448416.2_Missense_Mutation_p.E26K	NM_001128933.1	NP_001122405.1	Q9UMS6	SYNP2_HUMAN	synaptopodin 2	26	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.					actin cytoskeleton (GO:0015629)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|Z disc (GO:0030018)	14-3-3 protein binding (GO:0071889)|muscle alpha-actinin binding (GO:0051371)			breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(18)|ovary(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						AGGTGGCAAGGAGCAGAAGCA	0.517																																						ENST00000307142.4																			0				breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(20)|lung(18)|ovary(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	64						c.(76-78)Gag>Aag		synaptopodin 2							97.0	97.0	97.0					4																	119810267		2203	4300	6503	SO:0001583	missense	171024					nucleus|Z disc	14-3-3 protein binding|actin binding|muscle alpha-actinin binding	g.chr4:119810267G>A	AJ010482	CCDS34054.1, CCDS47128.1, CCDS47129.1, CCDS75185.1, CCDS75186.1	4q26	2008-08-29			ENSG00000172403	ENSG00000172403			17732	protein-coding gene	gene with protein product						11673475, 17828378	Standard	NM_133477		Approved	MYOPODIN	uc010inb.3	Q9UMS6	OTTHUMG00000161165	ENST00000429713.2:c.76G>A	4.37:g.119810267G>A	ENSP00000395143:p.Glu26Lys					SYNPO2_ENST00000429713.2_Missense_Mutation_p.E26K|SYNPO2_ENST00000448416.2_Missense_Mutation_p.E26K|SYNPO2_ENST00000434046.2_Missense_Mutation_p.E26K	p.E26K	NM_133477.2	NP_597734.2	Q9UMS6	SYNP2_HUMAN			1	272	+			26			PDZ.		B2RWP6|B2Y8J9|Q9UK89|S5XAM4	Missense_Mutation	SNP	ENST00000429713.2	37	c.76G>A	CCDS47129.1	.	.	.	.	.	.	.	.	.	.	G	33	5.223859	0.95139	.	.	ENSG00000172403	ENST00000307142;ENST00000448416;ENST00000429713;ENST00000434046	T;T;T;T	0.18960	2.18;2.18;2.18;2.18	5.61	5.61	0.85477	PDZ/DHR/GLGF (4);	0.343767	0.21674	N	0.070832	T	0.43809	0.1264	M	0.78916	2.43	0.42205	D	0.99178	P;P;D;D	0.53619	0.896;0.936;0.961;0.961	P;P;P;P	0.54924	0.649;0.669;0.764;0.764	T	0.36792	-0.9733	10	0.62326	D	0.03	-10.3156	18.182	0.89781	0.0:0.0:1.0:0.0	.	26;26;26;26	B4E258;Q9UMS6-2;E9PEM2;Q9UMS6	.;.;.;SYNP2_HUMAN	K	26	ENSP00000306015:E26K;ENSP00000412623:E26K;ENSP00000395143:E26K;ENSP00000390965:E26K	ENSP00000306015:E26K	E	+	1	0	SYNPO2	120029715	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.152000	0.77419	2.793000	0.96121	0.655000	0.94253	GAG		0.517	SYNPO2-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000364020.1			35	65	0	0	0	1	0	35	65				
BAGE2	85319	broad.mit.edu	37	21	11039406	11039406	+	RNA	SNP	T	T	C	rs8134740	byFrequency	TCGA-E8-A438-01A-11D-A23U-08	TCGA-E8-A438-10B-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4d31231-1d29-49cd-98d7-a658b3a6460f	01117f3f-623d-4fb0-b04f-0601015e88a3	g.chr21:11039406T>C	ENST00000470054.1	-	0	797							Q86Y30	BAGE2_HUMAN	B melanoma antigen family, member 2							extracellular region (GO:0005576)								Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		TCATTAGAAATCTGTTTTTCC	0.299																																						ENST00000470054.1																			0													B melanoma antigen family, member 2																																						85319							g.chr21:11039406T>C	AF218570		21p	2009-03-13			ENSG00000187172	ENSG00000187172			15723	protein-coding gene	gene with protein product	"""cancer/testis antigen family 2, member 2"""					12461691	Standard	NM_182482		Approved	CT2.2		Q86Y30	OTTHUMG00000074128		21.37:g.11039406T>C												Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)	0	797	-								A8K925|Q08ER0	RNA	SNP	ENST00000470054.1	37																																																																																						0.299	BAGE2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000157417.3	NM_182482		15	116	0	0	0	1	0	15	116				
SDHAP3	728609	broad.mit.edu	37	5	1593264	1593264	+	lincRNA	SNP	C	C	T	rs111700178		TCGA-E8-A438-01A-11D-A23U-08	TCGA-E8-A438-10B-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4d31231-1d29-49cd-98d7-a658b3a6460f	01117f3f-623d-4fb0-b04f-0601015e88a3	g.chr5:1593264C>T	ENST00000605200.1	+	0	0				SDHAP3_ENST00000436493.2_RNA																							AGGGCACATGCCTGACCAAAG	0.557																																						ENST00000436493.2																			0																																																			0							g.chr5:1593264C>T																													5.37:g.1593264C>T														0	361	-									RNA	SNP	ENST00000605200.1	37																																																																																						0.557	CTD-2012J19.3-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000469651.1			4	57	0	0	0	1	0	4	57				
FRG1B	284802	broad.mit.edu	37	20	29628278	29628278	+	Missense_Mutation	SNP	G	G	A			TCGA-E8-A438-01A-11D-A23U-08	TCGA-E8-A438-10B-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4d31231-1d29-49cd-98d7-a658b3a6460f	01117f3f-623d-4fb0-b04f-0601015e88a3	g.chr20:29628278G>A	ENST00000278882.3	+	6	660	c.280G>A	c.(280-282)Gca>Aca	p.A94T	FRG1B_ENST00000439954.2_Missense_Mutation_p.A99T|FRG1B_ENST00000358464.4_Missense_Mutation_p.A94T			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	94										endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						ATGCAATGAAGCAGGGGACAT	0.373																																						ENST00000278882.3																			0				endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(280-282)Gca>Aca																																						SO:0001583	missense	0							g.chr20:29628278G>A			20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.280G>A	20.37:g.29628278G>A	ENSP00000278882:p.Ala94Thr					FRG1B_ENST00000358464.4_Missense_Mutation_p.A94T|FRG1B_ENST00000439954.2_Missense_Mutation_p.A99T	p.A94T							6	660	+								C4AME5	Missense_Mutation	SNP	ENST00000278882.3	37	c.280G>A		.	.	.	.	.	.	.	.	.	.	g	9.994	1.231660	0.22626	.	.	ENSG00000149531	ENST00000278882;ENST00000439954;ENST00000358464	T	0.44083	0.93	2.08	2.08	0.27032	Actin cross-linking (1);	0.286587	0.39083	N	0.001478	T	0.22898	0.0553	.	.	.	0.21290	N	0.99973	B;B	0.12630	0.0;0.006	B;B	0.12156	0.002;0.007	T	0.15407	-1.0438	9	0.16420	T	0.52	.	10.2211	0.43198	0.0:0.0:1.0:0.0	.	99;94	F5H5R5;Q9BZ01	.;FRG1B_HUMAN	T	94;99;94	ENSP00000408863:A99T	ENSP00000278882:A94T	A	+	1	0	FRG1B	28241939	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	4.196000	0.58407	1.475000	0.48197	0.423000	0.28283	GCA		0.373	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		6	163	0	0	0	1	0	6	163				
HLA-DRB6	3128	broad.mit.edu	37	6	32522722	32522722	+	RNA	SNP	C	C	A	rs373838979		TCGA-E8-A438-01A-11D-A23U-08	TCGA-E8-A438-10B-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4d31231-1d29-49cd-98d7-a658b3a6460f	01117f3f-623d-4fb0-b04f-0601015e88a3	g.chr6:32522722C>A	ENST00000411500.1	-	0	484					NR_001298.1				major histocompatibility complex, class II, DR beta 6 (pseudogene)																		TGGGTCTTTGCAGGATACACA	0.488																																						ENST00000411500.1																			0																																																			0							g.chr6:32522722C>A	L76566		6p21.3	2011-07-08			ENSG00000229391	ENSG00000229391		"""Histocompatibility complex"""	4954	pseudogene	pseudogene						1529427, 10436177	Standard	NR_001298		Approved		uc003obn.1		OTTHUMG00000031028		6.37:g.32522722C>A								NR_001298.1						0	484	-									RNA	SNP	ENST00000411500.1	37																																																																																						0.488	HLA-DRB6-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000272900.1	NR_001298		3	30	1	0	0.00909568	1	0.00909568	3	30				
PRAMEF2	65122	broad.mit.edu	37	1	12920020	12920020	+	Missense_Mutation	SNP	T	T	C	rs3204810		TCGA-E8-A438-01A-11D-A23U-08	TCGA-E8-A438-10B-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4d31231-1d29-49cd-98d7-a658b3a6460f	01117f3f-623d-4fb0-b04f-0601015e88a3	g.chr1:12920020T>C	ENST00000240189.2	+	3	847	c.760T>C	c.(760-762)Tgg>Cgg	p.W254R		NM_023014.1	NP_075390.1	O60811	PRAM2_HUMAN	PRAME family member 2	254					negative regulation of apoptotic process (GO:0043066)|negative regulation of cell differentiation (GO:0045596)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)					breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(22)|prostate(6)|skin(3)|upper_aerodigestive_tract(4)	42	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;2.4e-06)|Kidney(185;4.89e-05)|COAD - Colon adenocarcinoma(227;0.000152)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)		ACTCGAGGGATGGTTAGTCAC	0.438																																						ENST00000240189.2																			0				breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(22)|prostate(6)|skin(3)|upper_aerodigestive_tract(4)	42						c.(760-762)Tgg>Cgg		PRAME family member 2							107.0	106.0	106.0					1																	12920020		2202	4293	6495	SO:0001583	missense	65122							g.chr1:12920020T>C		CCDS149.1	1p36.21	2013-01-17			ENSG00000120952	ENSG00000120952		"""-"""	28841	protein-coding gene	gene with protein product							Standard	NM_023014		Approved	FLJ43580	uc001aum.1	O60811	OTTHUMG00000001986	ENST00000240189.2:c.760T>C	1.37:g.12920020T>C	ENSP00000240189:p.Trp254Arg						p.W254R	NM_023014.1	NP_075390.1	O60811	PRAM2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00812)|Colorectal(212;2.4e-06)|Kidney(185;4.89e-05)|COAD - Colon adenocarcinoma(227;0.000152)|KIRC - Kidney renal clear cell carcinoma(229;0.000194)|BRCA - Breast invasive adenocarcinoma(304;0.000293)|STAD - Stomach adenocarcinoma(313;0.0072)|READ - Rectum adenocarcinoma(331;0.0649)	3	847	+	Ovarian(185;0.249)	Renal(390;0.000469)|Lung NSC(185;0.00143)|all_lung(284;0.00181)|Colorectal(325;0.00215)|Breast(348;0.00224)|Myeloproliferative disorder(586;0.0393)|Hepatocellular(190;0.0623)|Ovarian(437;0.0731)	254						Missense_Mutation	SNP	ENST00000240189.2	37	c.760T>C	CCDS149.1	.	.	.	.	.	.	.	.	.	.	t	0.032	-1.328609	0.01298	.	.	ENSG00000120952	ENST00000240189	T	0.00848	5.62	0.842	-1.68	0.08212	.	0.973308	0.08426	N	0.947639	T	0.00328	0.0010	N	0.00260	-1.75	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.43589	-0.9382	10	0.22706	T	0.39	.	5.7964	0.18389	0.0:0.7569:0.0:0.2431	rs3204810	254	O60811	PRAM2_HUMAN	R	254	ENSP00000240189:W254R	ENSP00000240189:W254R	W	+	1	0	PRAMEF2	12842607	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.131000	0.01311	-0.633000	0.05545	-2.717000	0.00132	TGG		0.438	PRAMEF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005517.1	NM_023014		7	150	0	0	0	1	0	7	150				
HELQ	113510	broad.mit.edu	37	4	84347206	84347206	+	Missense_Mutation	SNP	T	T	A			TCGA-E8-A438-01A-11D-A23U-08	TCGA-E8-A438-10B-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4d31231-1d29-49cd-98d7-a658b3a6460f	01117f3f-623d-4fb0-b04f-0601015e88a3	g.chr4:84347206T>A	ENST00000295488.3	-	14	2878	c.2716A>T	c.(2716-2718)Att>Ttt	p.I906F	HELQ_ENST00000510985.1_Missense_Mutation_p.I839F	NM_133636.2	NP_598375	Q8TDG4	HELQ_HUMAN	helicase, POLQ-like	906					double-strand break repair via homologous recombination (GO:0000724)	nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|nucleic acid binding (GO:0003676)			breast(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(10)|lung(17)|ovary(2)|skin(2)	38						ACTCCAAGAATGGCAGCTACA	0.388								Other identified genes with known or suspected DNA repair function																														ENST00000295488.3																			0				breast(1)|cervix(2)|endometrium(2)|kidney(2)|large_intestine(10)|lung(17)|ovary(2)|skin(2)	38						c.(2716-2718)Att>Ttt	Other identified genes with known or suspected DNA repair function	helicase, POLQ-like							139.0	144.0	142.0					4																	84347206		2203	4300	6503	SO:0001583	missense	113510						ATP binding|ATP-dependent helicase activity|nucleic acid binding	g.chr4:84347206T>A	AF436845	CCDS3603.1, CCDS75158.1	4q21.23	2009-02-26			ENSG00000163312	ENSG00000163312			18536	protein-coding gene	gene with protein product		606769				11751861	Standard	XM_005262711		Approved	Hel308	uc003hom.3	Q8TDG4	OTTHUMG00000130423	ENST00000295488.3:c.2716A>T	4.37:g.84347206T>A	ENSP00000295488:p.Ile906Phe					HELQ_ENST00000510985.1_Missense_Mutation_p.I839F	p.I906F	NM_133636.2	NP_598375.2	Q8TDG4	HELQ_HUMAN			14	2878	-			906					Q05DF9|Q502W9|Q659B8|Q6ZQX4|Q6ZTS4|Q96EX7	Missense_Mutation	SNP	ENST00000295488.3	37	c.2716A>T	CCDS3603.1	.	.	.	.	.	.	.	.	.	.	T	8.456	0.854292	0.17106	.	.	ENSG00000163312	ENST00000295488;ENST00000510985	T;T	0.62639	0.36;0.01	5.39	2.21	0.28008	.	0.489001	0.22273	N	0.062223	T	0.50956	0.1646	L	0.46157	1.445	0.09310	N	1	B;B	0.26147	0.143;0.021	B;B	0.21360	0.034;0.007	T	0.31251	-0.9950	10	0.15499	T	0.54	.	13.8618	0.63566	0.0:0.0:0.4279:0.5721	.	839;906	E3W980;Q8TDG4	.;HELQ_HUMAN	F	906;839	ENSP00000295488:I906F;ENSP00000424539:I839F	ENSP00000295488:I906F	I	-	1	0	HELQ	84566230	0.819000	0.29175	0.249000	0.24280	0.956000	0.61745	0.826000	0.27407	0.575000	0.29434	-0.619000	0.04042	ATT		0.388	HELQ-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252810.1	NM_133636		12	154	0	0	0	1	0	12	154				
PTK7	5754	broad.mit.edu	37	6	43109515	43109515	+	Silent	SNP	G	G	A	rs374951510		TCGA-E8-A438-01A-11D-A23U-08	TCGA-E8-A438-10B-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4d31231-1d29-49cd-98d7-a658b3a6460f	01117f3f-623d-4fb0-b04f-0601015e88a3	g.chr6:43109515G>A	ENST00000230419.4	+	11	1949	c.1728G>A	c.(1726-1728)ccG>ccA	p.P576P	PTK7_ENST00000349241.2_Silent_p.P446P|PTK7_ENST00000352931.2_Silent_p.P576P|PTK7_ENST00000481273.1_Silent_p.P584P|PTK7_ENST00000345201.2_Silent_p.P536P	NM_002821.4	NP_002812.2	Q13308	PTK7_HUMAN	protein tyrosine kinase 7	576	Ig-like C2-type 6.				actin cytoskeleton reorganization (GO:0031532)|axis elongation (GO:0003401)|canonical Wnt signaling pathway (GO:0060070)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cellular response to retinoic acid (GO:0071300)|cochlea morphogenesis (GO:0090103)|convergent extension (GO:0060026)|establishment of epithelial cell apical/basal polarity (GO:0045198)|establishment of planar polarity (GO:0001736)|lung-associated mesenchyme development (GO:0060484)|neural tube closure (GO:0001843)|peptidyl-tyrosine phosphorylation (GO:0018108)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of neuron projection development (GO:0010976)|signal transduction (GO:0007165)|wound healing (GO:0042060)	cell-cell junction (GO:0005911)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(12)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00784)|OV - Ovarian serous cystadenocarcinoma(102;0.0423)			CCAACGGGCCGCAGGGCCAGA	0.652																																						ENST00000230419.4																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(12)|ovary(2)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46						c.(1726-1728)ccG>ccA		protein tyrosine kinase 7		G	,,,	1,4405	4.2+/-10.8	0,1,2202	111.0	108.0	109.0		1728,1608,1338,1728	-10.0	0.8	6		109	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	PTK7	NM_002821.3,NM_152880.2,NM_152881.2,NM_152882.2	,,,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,,,	576/1071,536/1031,446/941,576/1015	43109515	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	0				actin cytoskeleton reorganization|canonical Wnt receptor signaling pathway|cell adhesion|cell migration	cell-cell junction|integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity	g.chr6:43109515G>A	AF447176	CCDS4884.1, CCDS4885.1, CCDS4886.1, CCDS4887.1, CCDS59021.1	6p21.1-p12.2	2013-02-18	2013-02-18		ENSG00000112655	ENSG00000112655	2.7.10.1	"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9618	protein-coding gene	gene with protein product		601890	"""PTK7 protein tyrosine kinase 7"""			7478540	Standard	NM_002821		Approved	CCK4	uc011dve.2	Q13308	OTTHUMG00000014721	ENST00000230419.4:c.1728G>A	6.37:g.43109515G>A						PTK7_ENST00000352931.2_Silent_p.P576P|PTK7_ENST00000481273.1_Silent_p.P584P|PTK7_ENST00000349241.2_Silent_p.P446P|PTK7_ENST00000345201.2_Silent_p.P536P	p.P576P	NM_002821.4	NP_002812.2	Q13308	PTK7_HUMAN	Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00784)|OV - Ovarian serous cystadenocarcinoma(102;0.0423)		11	1949	+			576			Ig-like C2-type 6.		A8K974|B7Z477|E9PFZ5|Q13417|Q5T650|Q6IQ54|Q8NFA5|Q8NFA6|Q8NFA7|Q8NFA8	Silent	SNP	ENST00000230419.4	37	c.1728G>A	CCDS4884.1																																																																																				0.652	PTK7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040580.2			5	165	0	0	0	1	0	5	165				
FRG1B	284802	broad.mit.edu	37	20	29625877	29625877	+	Missense_Mutation	SNP	G	G	A	rs7266938	byFrequency	TCGA-E8-A438-01A-11D-A23U-08	TCGA-E8-A438-10B-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4d31231-1d29-49cd-98d7-a658b3a6460f	01117f3f-623d-4fb0-b04f-0601015e88a3	g.chr20:29625877G>A	ENST00000278882.3	+	5	501	c.121G>A	c.(121-123)Gcc>Acc	p.A41T	FRG1B_ENST00000439954.2_Missense_Mutation_p.A46T|FRG1B_ENST00000358464.4_Missense_Mutation_p.A41T			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	41								p.A41T(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GTACAGAATCGCCCTGAAATC	0.358																																						ENST00000278882.3																			2	Substitution - Missense(2)	p.A41T(2)	urinary_tract(2)	endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(121-123)Gcc>Acc																																						SO:0001583	missense	0							g.chr20:29625877G>A			20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.121G>A	20.37:g.29625877G>A	ENSP00000278882:p.Ala41Thr					FRG1B_ENST00000358464.4_Missense_Mutation_p.A41T|FRG1B_ENST00000439954.2_Missense_Mutation_p.A46T	p.A41T							5	501	+								C4AME5	Missense_Mutation	SNP	ENST00000278882.3	37	c.121G>A		.	.	.	.	.	.	.	.	.	.	g	8.740	0.918766	0.17982	.	.	ENSG00000149531	ENST00000278882;ENST00000439954;ENST00000358464	T	0.62498	0.02	1.68	1.68	0.24146	.	0.000000	0.85682	D	0.000000	T	0.48277	0.1491	.	.	.	0.52099	D	0.999942	B	0.24186	0.099	B	0.27715	0.082	T	0.43956	-0.9359	9	0.33940	T	0.23	.	9.3557	0.38164	0.0:0.0:1.0:0.0	rs7266938;rs7266938	46	F5H5R5	.	T	41;46;41	ENSP00000408863:A46T	ENSP00000278882:A41T	A	+	1	0	FRG1B	28239538	1.000000	0.71417	0.993000	0.49108	0.033000	0.12548	5.232000	0.65332	1.250000	0.43966	0.184000	0.17185	GCC		0.358	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		5	103	0	0	0	1	0	5	103				
NBPF1	55672	broad.mit.edu	37	1	16918653	16918653	+	Splice_Site	SNP	C	C	T			TCGA-E8-A438-01A-11D-A23U-08	TCGA-E8-A438-10B-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4d31231-1d29-49cd-98d7-a658b3a6460f	01117f3f-623d-4fb0-b04f-0601015e88a3	g.chr1:16918653C>T	ENST00000430580.2	-	6	853		c.e6+1			NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1							cytoplasm (GO:0005737)									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		TCTTAACTTACTGTTGTGAAA	0.418																																						ENST00000430580.2																			0											c.e6+1		neuroblastoma breakpoint family, member 1																																				SO:0001630	splice_region_variant	55672					cytoplasm		g.chr1:16918653C>T	AB051480		1p36.13	2013-01-30			ENSG00000219481	ENSG00000219481		"""neuroblastoma breakpoint family"""	26088	protein-coding gene	gene with protein product		610501				11214970, 16079250	Standard	NM_017940		Approved	FLJ20719, KIAA1693	uc001ayw.4	Q3BBV0	OTTHUMG00000002487	ENST00000430580.2:c.34+1G>A	1.37:g.16918653C>T								NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)	6	853	-								Q8N4E8|Q9C0H0	Splice_Site	SNP	ENST00000430580.2	37																																																																																						0.418	NBPF1-005	NOVEL	upstream_uORF|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000106436.3	NM_017940	Intron	4	76	0	0	0	1	0	4	76				
CKM	1158	broad.mit.edu	37	19	45810034	45810034	+	Missense_Mutation	SNP	C	C	T			TCGA-E8-A438-01A-11D-A23U-08	TCGA-E8-A438-10B-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4d31231-1d29-49cd-98d7-a658b3a6460f	01117f3f-623d-4fb0-b04f-0601015e88a3	g.chr19:45810034C>T	ENST00000221476.3	-	8	1294	c.1120G>A	c.(1120-1122)Gac>Aac	p.D374N		NM_001824.4	NP_001815.2	P06732	KCRM_HUMAN	creatine kinase, muscle	374					cellular nitrogen compound metabolic process (GO:0034641)|creatine metabolic process (GO:0006600)|phosphocreatine biosynthetic process (GO:0046314)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)	ATP binding (GO:0005524)|creatine kinase activity (GO:0004111)			cervix(1)|endometrium(1)|large_intestine(8)|lung(3)|prostate(2)|skin(2)	17		Ovarian(192;0.0336)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;2.29e-44)|Epithelial(262;1.05e-38)|GBM - Glioblastoma multiforme(486;3.56e-07)	Creatine(DB00148)	ATCATGTCGTCAATGGACTGG	0.612																																						ENST00000221476.3																			0				cervix(1)|endometrium(1)|large_intestine(8)|lung(3)|prostate(2)|skin(2)	17						c.(1120-1122)Gac>Aac		creatine kinase, muscle	Creatine(DB00148)						217.0	172.0	188.0					19																	45810034		2203	4300	6503	SO:0001583	missense	1158				creatine metabolic process	cytosol	ATP binding|creatine kinase activity	g.chr19:45810034C>T	M14780	CCDS12659.1	19q13.32	2012-10-02			ENSG00000104879	ENSG00000104879	2.7.3.2		1994	protein-coding gene	gene with protein product		123310		CKMM			Standard	NM_001824		Approved		uc002pbd.4	P06732		ENST00000221476.3:c.1120G>A	19.37:g.45810034C>T	ENSP00000221476:p.Asp374Asn						p.D374N	NM_001824.4	NP_001815.2	P06732	KCRM_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;2.29e-44)|Epithelial(262;1.05e-38)|GBM - Glioblastoma multiforme(486;3.56e-07)	8	1294	-		Ovarian(192;0.0336)|all_neural(266;0.112)	374					Q96QL9	Missense_Mutation	SNP	ENST00000221476.3	37	c.1120G>A	CCDS12659.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.975043	0.74360	.	.	ENSG00000104879	ENST00000221476	T	0.23147	1.92	5.49	5.49	0.81192	.	0.000000	0.85682	D	0.000000	T	0.32071	0.0817	M	0.68593	2.085	0.58432	D	0.999999	B	0.15930	0.015	B	0.16722	0.016	T	0.05835	-1.0861	10	0.49607	T	0.09	-56.2802	16.8714	0.86041	0.0:1.0:0.0:0.0	.	374	P06732	KCRM_HUMAN	N	374	ENSP00000221476:D374N	ENSP00000221476:D374N	D	-	1	0	CKM	50501874	1.000000	0.71417	1.000000	0.80357	0.913000	0.54294	5.979000	0.70508	2.594000	0.87642	0.561000	0.74099	GAC		0.612	CKM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457569.1			6	249	0	0	0	1	0	6	249				
COL5A1	1289	broad.mit.edu	37	9	137623480	137623480	+	Missense_Mutation	SNP	C	C	T	rs377488010		TCGA-E8-A438-01A-11D-A23U-08	TCGA-E8-A438-10B-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4d31231-1d29-49cd-98d7-a658b3a6460f	01117f3f-623d-4fb0-b04f-0601015e88a3	g.chr9:137623480C>T	ENST00000371817.3	+	8	1717	c.1303C>T	c.(1303-1305)Ccg>Tcg	p.P435S		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	435	Nonhelical region.				axon guidance (GO:0007411)|blood vessel development (GO:0001568)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular fibril organization (GO:0043206)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|eye morphogenesis (GO:0048592)|heart morphogenesis (GO:0003007)|integrin biosynthetic process (GO:0045112)|negative regulation of endodermal cell differentiation (GO:1903225)|regulation of cellular component organization (GO:0051128)|skin development (GO:0043588)|tendon development (GO:0035989)|wound healing, spreading of epidermal cells (GO:0035313)	basement membrane (GO:0005604)|collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)|proteoglycan binding (GO:0043394)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		GCCGGGAATGCCGGCGAACCA	0.647																																						ENST00000371817.3																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115						c.(1303-1305)Ccg>Tcg		collagen, type V, alpha 1							92.0	90.0	91.0					9																	137623480		2203	4300	6503	SO:0001583	missense	1289				axon guidance|cell adhesion|collagen biosynthetic process|collagen fibril organization|eye morphogenesis|fibril organization|integrin biosynthetic process|skin development|wound healing, spreading of epidermal cells	collagen type V	heparin binding|integrin binding|platelet-derived growth factor binding|proteoglycan binding	g.chr9:137623480C>T	D90279	CCDS6982.1, CCDS75932.1	9q34.2-q34.3	2014-09-17			ENSG00000130635	ENSG00000130635		"""Collagens"""	2209	protein-coding gene	gene with protein product	"""alpha 1 type V collagen"""	120215				1572660	Standard	NM_001278074		Approved		uc031tfl.1	P20908	OTTHUMG00000020891	ENST00000371817.3:c.1303C>T	9.37:g.137623480C>T	ENSP00000360882:p.Pro435Ser						p.P435S	NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)	8	1717	+		Myeloproliferative disorder(178;0.0341)	435			Nonhelical region.		Q15094|Q5SUX4	Missense_Mutation	SNP	ENST00000371817.3	37	c.1303C>T	CCDS6982.1	.	.	.	.	.	.	.	.	.	.	C	12.29	1.894653	0.33442	.	.	ENSG00000130635	ENST00000371817	D	0.89617	-2.54	4.06	4.06	0.47325	.	0.186770	0.34879	U	0.003609	D	0.90164	0.6926	L	0.35341	1.055	0.48975	D	0.999732	D	0.63880	0.993	D	0.70227	0.968	D	0.88947	0.3384	10	0.32370	T	0.25	.	14.4191	0.67171	0.0:1.0:0.0:0.0	.	435	P20908	CO5A1_HUMAN	S	435	ENSP00000360882:P435S	ENSP00000360882:P435S	P	+	1	0	COL5A1	136763301	1.000000	0.71417	0.927000	0.36925	0.422000	0.31414	4.459000	0.60102	1.799000	0.52666	0.313000	0.20887	CCG		0.647	COL5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054954.2	NM_000093		4	121	0	0	0	1	0	4	121				
DEPDC1B	55789	broad.mit.edu	37	5	59982897	59982897	+	Missense_Mutation	SNP	C	C	T			TCGA-E8-A438-01A-11D-A23U-08	TCGA-E8-A438-10B-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4d31231-1d29-49cd-98d7-a658b3a6460f	01117f3f-623d-4fb0-b04f-0601015e88a3	g.chr5:59982897C>T	ENST00000265036.5	-	2	273	c.206G>A	c.(205-207)cGc>cAc	p.R69H	DEPDC1B_ENST00000545085.1_Missense_Mutation_p.R42H|DEPDC1B_ENST00000453022.2_Missense_Mutation_p.R69H	NM_018369.2	NP_060839.2	Q8WUY9	DEP1B_HUMAN	DEP domain containing 1B	69	DEP. {ECO:0000255|PROSITE- ProRule:PRU00066}.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(2)|skin(2)	17		Lung NSC(810;0.000214)|Prostate(74;0.0147)|Breast(144;0.0991)|Ovarian(174;0.17)				CGTTTGTTTGCGGGTCACTTC	0.473																																						ENST00000265036.5																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(6)|ovary(1)|pancreas(2)|skin(2)	17						c.(205-207)cGc>cAc		DEP domain containing 1B							128.0	118.0	121.0					5																	59982897		2203	4300	6503	SO:0001583	missense	55789				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	g.chr5:59982897C>T	AF303178	CCDS3977.1, CCDS47214.1	5q12	2008-02-05			ENSG00000035499	ENSG00000035499			24902	protein-coding gene	gene with protein product	"""breast cancer cell 3"""					12477932	Standard	NM_001145208		Approved	XTP1, BRCC3	uc003jsh.3	Q8WUY9	OTTHUMG00000097083	ENST00000265036.5:c.206G>A	5.37:g.59982897C>T	ENSP00000265036:p.Arg69His					DEPDC1B_ENST00000453022.2_Missense_Mutation_p.R69H|DEPDC1B_ENST00000545085.1_Missense_Mutation_p.R42H	p.R69H	NM_018369.2	NP_060839.2	Q8WUY9	DEP1B_HUMAN			2	273	-		Lung NSC(810;0.000214)|Prostate(74;0.0147)|Breast(144;0.0991)|Ovarian(174;0.17)	69			DEP.		A8K3R9|B4DUT4|Q86WJ3|Q8IZY6|Q9NUN3|Q9NW57	Missense_Mutation	SNP	ENST00000265036.5	37	c.206G>A	CCDS3977.1	.	.	.	.	.	.	.	.	.	.	C	35	5.543962	0.96488	.	.	ENSG00000035499	ENST00000265036;ENST00000453022;ENST00000545085	T;T;T	0.42131	0.98;0.98;0.98	5.64	5.64	0.86602	DEP domain (3);Winged helix-turn-helix transcription repressor DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.74642	0.3743	M	0.92923	3.36	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.79999	-0.1566	9	.	.	.	-13.4015	20.0625	0.97681	0.0:1.0:0.0:0.0	.	69;69	B4DUT4;Q8WUY9	.;DEP1B_HUMAN	H	69;69;42	ENSP00000265036:R69H;ENSP00000389101:R69H;ENSP00000438320:R42H	.	R	-	2	0	DEPDC1B	60018654	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	7.669000	0.83911	2.816000	0.96949	0.561000	0.74099	CGC		0.473	DEPDC1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214207.1	NM_018369		4	194	0	0	0	1	0	4	194				
CROCCP2	84809	broad.mit.edu	37	1	16946407	16946407	+	lincRNA	SNP	T	T	G	rs10796418		TCGA-E8-A438-01A-11D-A23U-08	TCGA-E8-A438-10B-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4d31231-1d29-49cd-98d7-a658b3a6460f	01117f3f-623d-4fb0-b04f-0601015e88a3	g.chr1:16946407T>G	ENST00000412962.1	-	0	1112				RP5-1182A14.5_ENST00000607700.1_lincRNA			Q86T23	CROL1_HUMAN	ciliary rootlet coiled-coil, rootletin pseudogene 2						centrosome organization (GO:0051297)	ciliary rootlet (GO:0035253)											AGCAATCTCCTCACTCAGCTG	0.672																																						ENST00000412962.1																			0																																																			0							g.chr1:16946407T>G	AK090414		1p36.13	2010-07-08	2010-07-08	2010-07-08	ENSG00000215908	ENSG00000215908			28170	pseudogene	pseudogene			"""ciliary rootlet coiled-coil, rootletin-like 1"""	CROCCL1		12477932	Standard	NR_026752		Approved	MGC12760	uc001azf.3	Q86T23	OTTHUMG00000037884		1.37:g.16946407T>G														0	1112	-								Q8NF65|Q96FR5|Q9BRE8	RNA	SNP	ENST00000412962.1	37																																																																																						0.672	CROCCP2-003	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000092784.1	NR_026752.1		9	15	0	0	0	1	0	9	15				
IFT122	55764	broad.mit.edu	37	3	129221571	129221571	+	Missense_Mutation	SNP	G	G	A			TCGA-E8-A438-01A-11D-A23U-08	TCGA-E8-A438-10B-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4d31231-1d29-49cd-98d7-a658b3a6460f	01117f3f-623d-4fb0-b04f-0601015e88a3	g.chr3:129221571G>A	ENST00000348417.2	+	20	2470	c.2393G>A	c.(2392-2394)cGc>cAc	p.R798H	IFT122_ENST00000504021.1_Missense_Mutation_p.R674H|IFT122_ENST00000347300.2_Missense_Mutation_p.R739H|IFT122_ENST00000296266.3_Missense_Mutation_p.R849H|IFT122_ENST00000349441.2_Missense_Mutation_p.R687H|IFT122_ENST00000507564.1_Missense_Mutation_p.R790H|IFT122_ENST00000440957.2_Missense_Mutation_p.R589H|IFT122_ENST00000513932.1_3'UTR|IFT122_ENST00000431818.2_Missense_Mutation_p.R648H	NM_052989.1	NP_443715.1	Q9HBG6	IF122_HUMAN	intraflagellar transport 122	798					camera-type eye morphogenesis (GO:0048593)|ciliary receptor clustering involved in smoothened signaling pathway (GO:0060830)|cilium morphogenesis (GO:0060271)|embryonic body morphogenesis (GO:0010172)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|embryonic heart tube development (GO:0035050)|embryonic heart tube left/right pattern formation (GO:0060971)|establishment of protein localization to organelle (GO:0072594)|intraciliary anterograde transport (GO:0035720)|intraciliary retrograde transport (GO:0035721)|limb development (GO:0060173)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of smoothened signaling pathway involved in ventral spinal cord patterning (GO:0021914)|neural tube closure (GO:0001843)|protein localization to cilium (GO:0061512)|signal transduction downstream of smoothened (GO:0007227)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)	ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|intraciliary transport particle A (GO:0030991)|membrane (GO:0016020)|photoreceptor connecting cilium (GO:0032391)|primary cilium (GO:0072372)				breast(3)|cervix(1)|endometrium(9)|large_intestine(10)|lung(21)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	52						GACATCGCCCGCAAACTGGAC	0.597																																						ENST00000296266.3																			0				breast(3)|cervix(1)|endometrium(9)|large_intestine(10)|lung(21)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	52						c.(2545-2547)cGc>cAc		intraflagellar transport 122 homolog (Chlamydomonas)							106.0	103.0	104.0					3																	129221571		2203	4300	6503	SO:0001583	missense	55764				camera-type eye morphogenesis|cilium morphogenesis|embryonic body morphogenesis|embryonic heart tube development|limb development|neural tube closure	microtubule basal body|photoreceptor connecting cilium		g.chr3:129221571G>A	AF244930	CCDS3059.1, CCDS3060.1, CCDS3061.1, CCDS3062.1, CCDS63770.1, CCDS63772.1, CCDS63773.1	3q21	2014-07-03	2014-07-03	2005-11-02	ENSG00000163913	ENSG00000163913		"""WD repeat domain containing"", ""Intraflagellar transport homologs"""	13556	protein-coding gene	gene with protein product		606045	"""WD repeat domain 10"", ""intraflagellar transport 122 homolog (Chlamydomonas)"""	WDR10		11242542	Standard	NM_052985		Approved	WDR140, WDR10p, SPG	uc003emm.3	Q9HBG6	OTTHUMG00000159516	ENST00000348417.2:c.2393G>A	3.37:g.129221571G>A	ENSP00000324005:p.Arg798His					IFT122_ENST00000507564.1_Missense_Mutation_p.R790H|IFT122_ENST00000347300.2_Missense_Mutation_p.R739H|IFT122_ENST00000513932.1_3'UTR|IFT122_ENST00000440957.2_Missense_Mutation_p.R589H|IFT122_ENST00000504021.1_Missense_Mutation_p.R674H|IFT122_ENST00000431818.2_Missense_Mutation_p.R648H|IFT122_ENST00000348417.2_Missense_Mutation_p.R798H|IFT122_ENST00000349441.2_Missense_Mutation_p.R687H	p.R849H	NM_052985.2	NP_443711.2	Q9HBG6	IF122_HUMAN			21	2738	+			798					B3KW53|B4DEY9|B4DPW7|E7EQF4|E9PDG2|E9PDX2|G3XAB1|H7C3C0|Q53G36|Q8TC06|Q9BTB9|Q9BTY4|Q9HAT9|Q9HBG5|Q9NV68|Q9UF80	Missense_Mutation	SNP	ENST00000348417.2	37	c.2546G>A	CCDS3061.1	.	.	.	.	.	.	.	.	.	.	G	35	5.455763	0.96223	.	.	ENSG00000163913	ENST00000347300;ENST00000296266;ENST00000507564;ENST00000454840;ENST00000431818;ENST00000504021;ENST00000349441;ENST00000348417;ENST00000446384;ENST00000440957;ENST00000509522;ENST00000507221	T;T;T;T;T;T;T;T;T	0.65364	0.5;-0.15;-0.01;0.07;0.64;0.66;0.48;0.07;0.71	5.96	5.96	0.96718	.	0.000000	0.85682	D	0.000000	T	0.81103	0.4753	M	0.77313	2.365	0.80722	D	1	D;D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;0.999;0.999;1.0;0.998;0.994;0.997;1.0;1.0	D;D;D;P;D;D;P;P;D;D	0.81914	0.966;0.995;0.988;0.875;0.993;0.948;0.624;0.792;0.925;0.966	T	0.80919	-0.1167	10	0.59425	D	0.04	-14.9855	20.422	0.99049	0.0:0.0:1.0:0.0	.	589;124;790;185;674;638;687;739;798;849	E9PDG2;B3KUD1;E7EQF4;B3KT43;B4DEY9;B4DPW7;Q9BTY4;Q9HBG6-3;Q9HBG6;G3XAB1	.;.;.;.;.;.;.;.;IF122_HUMAN;.	H	739;849;790;739;648;674;687;798;638;589;295;160	ENSP00000323973:R739H;ENSP00000296266:R849H;ENSP00000425536:R790H;ENSP00000410946:R648H;ENSP00000422179:R674H;ENSP00000324165:R687H;ENSP00000324005:R798H;ENSP00000401569:R589H;ENSP00000424727:R295H	ENSP00000296266:R849H	R	+	2	0	IFT122	130704261	1.000000	0.71417	0.965000	0.40720	0.817000	0.46193	9.587000	0.98229	2.832000	0.97577	0.655000	0.94253	CGC		0.597	IFT122-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000355852.1	NM_018262		4	172	0	0	0	1	0	4	172				
CDH11	1009	broad.mit.edu	37	16	65005558	65005558	+	Silent	SNP	G	G	A			TCGA-E8-A438-01A-11D-A23U-08	TCGA-E8-A438-10B-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4d31231-1d29-49cd-98d7-a658b3a6460f	01117f3f-623d-4fb0-b04f-0601015e88a3	g.chr16:65005558G>A	ENST00000268603.4	-	11	2181	c.1566C>T	c.(1564-1566)gcC>gcT	p.A522A	CDH11_ENST00000566827.1_Silent_p.A396A|CDH11_ENST00000394156.3_Silent_p.A522A	NM_001797.2	NP_001788.2	P55287	CAD11_HUMAN	cadherin 11, type 2, OB-cadherin (osteoblast)	522	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|corticospinal tract morphogenesis (GO:0021957)|homophilic cell adhesion (GO:0007156)|ossification (GO:0001503)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(19)|lung(40)|ovary(3)|prostate(3)|skin(2)|urinary_tract(2)	88		Ovarian(137;0.0973)		OV - Ovarian serous cystadenocarcinoma(108;0.205)		TTGGTCCATTGGCCGTGTCAT	0.413			T	USP6	aneurysmal bone cysts					TSP Lung(24;0.17)																												ENST00000394156.3				Dom	yes		16	16q22.1	1009	T	"""cadherin 11, type 2, OB-cadherin (osteoblast)"""			M	USP6		aneurysmal bone cysts		0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(19)|lung(40)|ovary(3)|prostate(3)|skin(2)|urinary_tract(2)	88						c.(1564-1566)gcC>gcT		cadherin 11, type 2, OB-cadherin (osteoblast)							129.0	121.0	124.0					16																	65005558		2203	4300	6503	SO:0001819	synonymous_variant	1009				adherens junction organization|cell junction assembly|homophilic cell adhesion|ossification|skeletal system development	integral to membrane|plasma membrane	calcium ion binding|protein binding	g.chr16:65005558G>A	D21255	CCDS10803.1	16q21	2010-01-26			ENSG00000140937	ENSG00000140937		"""Cadherins / Major cadherins"""	1750	protein-coding gene	gene with protein product	"""OB-Cadherin"""	600023				9615235	Standard	NM_001797		Approved	OB, CAD11	uc002eoi.3	P55287	OTTHUMG00000137494	ENST00000268603.4:c.1566C>T	16.37:g.65005558G>A		TSP Lung(24;0.17)				CDH11_ENST00000566827.1_Silent_p.A396A|CDH11_ENST00000268603.4_Silent_p.A522A	p.A522A			P55287	CAD11_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.205)	11	2019	-		Ovarian(137;0.0973)	522			Cadherin 5.		A8K5D6|A8MZC8|B7WP28|Q15065|Q15066|Q9UQ93|Q9UQ94	Silent	SNP	ENST00000268603.4	37	c.1566C>T	CCDS10803.1																																																																																				0.413	CDH11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268755.1	NM_033664		4	60	0	0	0	1	0	4	60				
SLCO2B1	11309	broad.mit.edu	37	11	74904577	74904577	+	Missense_Mutation	SNP	G	G	A			TCGA-E8-A438-01A-11D-A23U-08	TCGA-E8-A438-10B-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4d31231-1d29-49cd-98d7-a658b3a6460f	01117f3f-623d-4fb0-b04f-0601015e88a3	g.chr11:74904577G>A	ENST00000289575.5	+	9	1785	c.1390G>A	c.(1390-1392)Ggc>Agc	p.G464S	SLCO2B1_ENST00000532236.1_Missense_Mutation_p.G348S|SLCO2B1_ENST00000428359.2_Missense_Mutation_p.G442S|SLCO2B1_ENST00000454962.2_Missense_Mutation_p.G237S|SLCO2B1_ENST00000531756.1_Missense_Mutation_p.G209S|SLCO2B1_ENST00000341411.4_Missense_Mutation_p.G237S|SLCO2B1_ENST00000525650.1_Missense_Mutation_p.G320S	NM_007256.4	NP_009187	O94956	SO2B1_HUMAN	solute carrier organic anion transporter family, member 2B1	464					liver development (GO:0001889)|sodium-independent icosanoid transport (GO:0071718)|sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bile acid transmembrane transporter activity (GO:0015125)|organic anion transmembrane transporter activity (GO:0008514)|sodium-independent organic anion transmembrane transporter activity (GO:0015347)	p.G464S(1)		breast(2)|endometrium(1)|large_intestine(7)|lung(20)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	39					Acetic acid(DB03166)|Alprostadil(DB00770)|Atorvastatin(DB01076)|Benzylpenicillin(DB01053)|Conjugated Estrogens(DB00286)|Digoxin(DB00390)|Dinoprostone(DB00917)|Ergoloid mesylate(DB01049)|Estradiol(DB00783)|Estrone(DB00655)|Fexofenadine(DB00950)|Fluvastatin(DB01095)|Glyburide(DB01016)|Ibuprofen(DB01050)|Iloprost(DB01088)|Latanoprost(DB00654)|Montelukast(DB00471)|Niacin(DB00627)|Pitavastatin(DB08860)|Pravastatin(DB00175)|Rifampicin(DB01045)|Rosuvastatin(DB01098)|Salicylic acid(DB00936)|Tolbutamide(DB01124)	CTTCTTTATCGGCTGCTCCAG	0.627																																						ENST00000289575.5																			1	Substitution - Missense(1)	p.G464S(1)	large_intestine(1)	breast(2)|endometrium(1)|large_intestine(7)|lung(20)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	39						c.(1390-1392)Ggc>Agc		solute carrier organic anion transporter family, member 2B1	Ergoloid mesylate(DB01049)						37.0	33.0	34.0					11																	74904577		2200	4293	6493	SO:0001583	missense	11309				sodium-independent organic anion transport	integral to membrane	sodium-independent organic anion transmembrane transporter activity	g.chr11:74904577G>A	AB026256	CCDS8235.1, CCDS44683.1, CCDS53679.1	11q13	2013-05-22	2003-11-25	2003-11-26				"""Solute carriers"""	10962	protein-coding gene	gene with protein product		604988	"""solute carrier family 21 (organic anion transporter), member 9"""	SLC21A9			Standard	NM_007256		Approved	OATP-B, OATP2B1	uc001owb.3	O94956		ENST00000289575.5:c.1390G>A	11.37:g.74904577G>A	ENSP00000289575:p.Gly464Ser					SLCO2B1_ENST00000531756.1_Missense_Mutation_p.G209S|SLCO2B1_ENST00000532236.1_Missense_Mutation_p.G348S|SLCO2B1_ENST00000525650.1_Missense_Mutation_p.G320S|SLCO2B1_ENST00000428359.2_Missense_Mutation_p.G442S|SLCO2B1_ENST00000454962.2_Missense_Mutation_p.G237S|SLCO2B1_ENST00000341411.4_Missense_Mutation_p.G237S	p.G464S	NM_007256.4	NP_009187.1	O94956	SO2B1_HUMAN			9	1785	+			464					A8K2G9|B4DGA9|B4DTB0|E7ERN5|E9PPU8|Q9H2Z0|Q9UFU1	Missense_Mutation	SNP	ENST00000289575.5	37	c.1390G>A	CCDS8235.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.963967	0.74131	.	.	ENSG00000137491	ENST00000289575;ENST00000341411;ENST00000532236;ENST00000531756;ENST00000525650;ENST00000454962;ENST00000428359	T;T;T;T;T;T;T	0.41400	1.0;1.0;1.0;1.0;1.0;1.0;1.0	5.02	5.02	0.67125	Major facilitator superfamily domain, general substrate transporter (1);	0.000000	0.85682	D	0.000000	T	0.61148	0.2324	M	0.62266	1.93	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	T	0.57734	-0.7760	10	0.36615	T	0.2	.	15.8595	0.79012	0.0:0.0:1.0:0.0	.	320;209;237;464	E9PPU8;E9PPJ4;O94956-2;O94956	.;.;.;SO2B1_HUMAN	S	464;237;348;209;320;237;442	ENSP00000289575:G464S;ENSP00000341286:G237S;ENSP00000434112:G348S;ENSP00000432650:G209S;ENSP00000436324:G320S;ENSP00000389653:G237S;ENSP00000388912:G442S	ENSP00000289575:G464S	G	+	1	0	SLCO2B1	74582225	1.000000	0.71417	0.998000	0.56505	0.061000	0.15899	7.562000	0.82300	2.605000	0.88082	0.561000	0.74099	GGC		0.627	SLCO2B1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000383933.1	NM_007256		10	17	0	0	0	1	0	10	17				
PIK3R5	23533	broad.mit.edu	37	17	8791970	8791970	+	Silent	SNP	G	G	A			TCGA-E8-A438-01A-11D-A23U-08	TCGA-E8-A438-10B-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4d31231-1d29-49cd-98d7-a658b3a6460f	01117f3f-623d-4fb0-b04f-0601015e88a3	g.chr17:8791970G>A	ENST00000447110.1	-	10	1258	c.1134C>T	c.(1132-1134)tcC>tcT	p.S378S	PIK3R5_ENST00000584803.1_Silent_p.S378S|PIK3R5_ENST00000581552.1_Silent_p.S378S	NM_001142633.2|NM_001251851.1|NM_001251852.1|NM_001251853.1|NM_001251855.1	NP_001136105.1|NP_001238780.1|NP_001238781.1|NP_001238782.1|NP_001238784.1	Q8WYR1	PI3R5_HUMAN	phosphoinositide-3-kinase, regulatory subunit 5	378					blood coagulation (GO:0007596)|cell death (GO:0008219)|G-protein coupled receptor signaling pathway (GO:0007186)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of protein kinase B signaling (GO:0051897)|small molecule metabolic process (GO:0044281)	1-phosphatidylinositol-4-phosphate 3-kinase, class IB complex (GO:0005944)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	1-phosphatidylinositol-3-kinase regulator activity (GO:0046935)|G-protein beta/gamma-subunit complex binding (GO:0031683)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(14)|prostate(3)|skin(4)|urinary_tract(1)	34						CTGAGACAAAGGAAGTCAGCA	0.652																																					NSCLC(18;589 615 7696 20311 50332)	ENST00000447110.1																			0				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(14)|prostate(3)|skin(4)|urinary_tract(1)	34						c.(1132-1134)tcC>tcT		phosphoinositide-3-kinase, regulatory subunit 5							49.0	53.0	52.0					17																	8791970		2203	4300	6503	SO:0001819	synonymous_variant	23533				platelet activation	cytosol|membrane|nucleus		g.chr17:8791970G>A	AF128881	CCDS11147.1, CCDS73986.1	17p13.1	2011-10-13	2008-02-04		ENSG00000141506	ENSG00000141506			30035	protein-coding gene	gene with protein product		611317				12507995	Standard	NM_014308		Approved	P101-PI3K, p101	uc002glt.3	Q8WYR1	OTTHUMG00000108197	ENST00000447110.1:c.1134C>T	17.37:g.8791970G>A						PIK3R5_ENST00000581552.1_Silent_p.S378S|PIK3R5_ENST00000584803.1_Silent_p.S378S	p.S378S	NM_001142633.2|NM_001251851.1|NM_001251852.1|NM_001251853.1|NM_001251855.1	NP_001136105.1|NP_001238780.1|NP_001238781.1|NP_001238782.1|NP_001238784.1	Q8WYR1	PI3R5_HUMAN			10	1258	-			378					B0LPH4|D3DTS3|Q5G936|Q5G938|Q5G939|Q8IZ23|Q9Y2Y2	Silent	SNP	ENST00000447110.1	37	c.1134C>T	CCDS11147.1																																																																																				0.652	PIK3R5-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000227003.2	NM_014308		10	34	0	0	0	1	0	10	34				
FRG1B	284802	broad.mit.edu	37	20	29625941	29625941	+	Missense_Mutation	SNP	A	A	T	rs558255572		TCGA-E8-A438-01A-11D-A23U-08	TCGA-E8-A438-10B-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4d31231-1d29-49cd-98d7-a658b3a6460f	01117f3f-623d-4fb0-b04f-0601015e88a3	g.chr20:29625941A>T	ENST00000278882.3	+	5	565	c.185A>T	c.(184-186)gAt>gTt	p.D62V	FRG1B_ENST00000439954.2_Missense_Mutation_p.D67V|FRG1B_ENST00000358464.4_Missense_Mutation_p.D62V			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	62								p.D62V(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GGGCATTCAGATGCAATTGGA	0.333													.|||	1	0.000199681	0.0	0.0014	5008	,	,		30607	0.0		0.0	False		,,,				2504	0.0					ENST00000278882.3																			2	Substitution - Missense(2)	p.D62V(2)	urinary_tract(2)	endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(184-186)gAt>gTt																																						SO:0001583	missense	0							g.chr20:29625941A>T			20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.185A>T	20.37:g.29625941A>T	ENSP00000278882:p.Asp62Val					FRG1B_ENST00000358464.4_Missense_Mutation_p.D62V|FRG1B_ENST00000439954.2_Missense_Mutation_p.D67V	p.D62V							5	565	+								C4AME5	Missense_Mutation	SNP	ENST00000278882.3	37	c.185A>T		.	.	.	.	.	.	.	.	.	.	a	11.46	1.644922	0.29246	.	.	ENSG00000149531	ENST00000278882;ENST00000439954;ENST00000358464	T	0.55930	0.49	1.68	1.68	0.24146	.	0.000000	0.85682	U	0.000000	T	0.67316	0.2880	.	.	.	0.80722	D	1	D	0.76494	0.999	D	0.85130	0.997	T	0.68300	-0.5445	9	0.87932	D	0	.	7.3757	0.26827	1.0:0.0:0.0:0.0	.	67	F5H5R5	.	V	62;67;62	ENSP00000408863:D67V	ENSP00000278882:D62V	D	+	2	0	FRG1B	28239602	1.000000	0.71417	1.000000	0.80357	0.050000	0.14768	7.682000	0.84083	1.028000	0.39785	0.155000	0.16302	GAT		0.333	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		8	101	0	0	0	1	0	8	101				
ANO8	57719	broad.mit.edu	37	19	17441651	17441651	+	Missense_Mutation	SNP	G	G	A			TCGA-E8-A438-01A-11D-A23U-08	TCGA-E8-A438-10B-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4d31231-1d29-49cd-98d7-a658b3a6460f	01117f3f-623d-4fb0-b04f-0601015e88a3	g.chr19:17441651G>A	ENST00000159087.4	-	8	1137	c.979C>T	c.(979-981)Cgc>Tgc	p.R327C		NM_020959.2	NP_066010.1	Q9HCE9	ANO8_HUMAN	anoctamin 8	327					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	intracellular calcium activated chloride channel activity (GO:0005229)			autonomic_ganglia(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(3)	27						AACTGGGGGCGTGGCTCCTCC	0.612																																						ENST00000159087.4																			0				autonomic_ganglia(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(7)|ovary(4)|pancreas(1)|prostate(2)|urinary_tract(3)	27						c.(979-981)Cgc>Tgc		anoctamin 8							100.0	102.0	101.0					19																	17441651		2203	4300	6503	SO:0001583	missense	57719					chloride channel complex	chloride channel activity	g.chr19:17441651G>A	AB046843	CCDS32949.1	19p13.12	2014-04-09	2008-08-28	2008-08-28		ENSG00000074855		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	29329	protein-coding gene	gene with protein product		610216	"""KIAA1623"", ""transmembrane protein 16H"""	KIAA1623, TMEM16H		10997877, 24692353	Standard	NM_020959		Approved		uc002ngf.2	Q9HCE9		ENST00000159087.4:c.979C>T	19.37:g.17441651G>A	ENSP00000159087:p.Arg327Cys						p.R327C	NM_020959.2	NP_066010.1	Q9HCE9	ANO8_HUMAN			8	1137	-			327					A6NIJ0	Missense_Mutation	SNP	ENST00000159087.4	37	c.979C>T	CCDS32949.1	.	.	.	.	.	.	.	.	.	.	g	17.78	3.472736	0.63737	.	.	ENSG00000074855	ENST00000159087	T	0.73469	-0.75	4.59	3.53	0.40419	.	0.120255	0.51477	D	0.000085	D	0.88388	0.6423	H	0.94620	3.56	0.51012	D	0.999902	D	0.89917	1.0	D	0.91635	0.999	D	0.89129	0.3508	10	0.87932	D	0	.	9.8658	0.41142	0.0:0.0:0.6292:0.3708	.	327	Q9HCE9	ANO8_HUMAN	C	327	ENSP00000159087:R327C	ENSP00000159087:R327C	R	-	1	0	ANO8	17302651	0.982000	0.34865	0.996000	0.52242	0.933000	0.57130	1.864000	0.39469	0.899000	0.36444	0.306000	0.20318	CGC		0.612	ANO8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462943.1	XM_050644		69	131	0	0	0	1	0	69	131				
MYF5	4617	broad.mit.edu	37	12	81110848	81110848	+	Silent	SNP	C	C	T			TCGA-E8-A438-01A-11D-A23U-08	TCGA-E8-A438-10B-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4d31231-1d29-49cd-98d7-a658b3a6460f	01117f3f-623d-4fb0-b04f-0601015e88a3	g.chr12:81110848C>T	ENST00000228644.3	+	1	158	c.6C>T	c.(4-6)gaC>gaT	p.D2D		NM_005593.2	NP_005584.2	P13349	MYF5_HUMAN	myogenic factor 5	2					camera-type eye development (GO:0043010)|cartilage condensation (GO:0001502)|embryonic skeletal system morphogenesis (GO:0048704)|extracellular matrix organization (GO:0030198)|muscle cell differentiation (GO:0042692)|muscle cell fate commitment (GO:0042693)|muscle organ development (GO:0007517)|muscle tissue morphogenesis (GO:0060415)|ossification (GO:0001503)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell-matrix adhesion (GO:0001952)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|skeletal muscle cell differentiation (GO:0035914)|skeletal muscle tissue development (GO:0007519)|somitogenesis (GO:0001756)|transcription from RNA polymerase II promoter (GO:0006366)	nucleoplasm (GO:0005654)	protein heterodimerization activity (GO:0046982)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)			central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(8)|lung(15)|ovary(2)|pancreas(1)	30						GCAGGATGGACGTGATGGATG	0.642																																						ENST00000228644.3																			0				central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(8)|lung(15)|ovary(2)|pancreas(1)	30						c.(4-6)gaC>gaT		myogenic factor 5							61.0	56.0	57.0					12																	81110848		2203	4300	6503	SO:0001819	synonymous_variant	4617				muscle cell fate commitment|positive regulation of muscle cell differentiation|skeletal muscle tissue development	nucleoplasm	DNA binding|protein heterodimerization activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity	g.chr12:81110848C>T		CCDS9020.1	12q21	2013-05-21			ENSG00000111049	ENSG00000111049		"""Basic helix-loop-helix proteins"""	7565	protein-coding gene	gene with protein product		159990				8978788, 12105204	Standard	NM_005593		Approved	bHLHc2	uc001szg.2	P13349	OTTHUMG00000170166	ENST00000228644.3:c.6C>T	12.37:g.81110848C>T							p.D2D	NM_005593.2	NP_005584.2	P13349	MYF5_HUMAN			1	158	+			2					Q6ISR9	Silent	SNP	ENST00000228644.3	37	c.6C>T	CCDS9020.1																																																																																				0.642	MYF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407757.1	NM_005593		8	49	0	0	0	1	0	8	49				
MUC17	140453	broad.mit.edu	37	7	100678988	100678988	+	Missense_Mutation	SNP	G	G	A	rs71286276		TCGA-E8-A438-01A-11D-A23U-08	TCGA-E8-A438-10B-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4d31231-1d29-49cd-98d7-a658b3a6460f	01117f3f-623d-4fb0-b04f-0601015e88a3	g.chr7:100678988G>A	ENST00000306151.4	+	3	4355	c.4291G>A	c.(4291-4293)Gct>Act	p.A1431T		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	1431	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)	p.A1431T(1)		NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					GACCACTTCTGCTGAAGCCAC	0.488																																						ENST00000306151.4																			1	Substitution - Missense(1)	p.A1431T(1)	kidney(1)	NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343						c.(4291-4293)Gct>Act		mucin 17, cell surface associated							207.0	222.0	217.0					7																	100678988		2203	4300	6503	SO:0001583	missense	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100678988G>A	AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"""Mucins"""	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.4291G>A	7.37:g.100678988G>A	ENSP00000302716:p.Ala1431Thr						p.A1431T	NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN			3	4355	+	Lung NSC(181;0.136)|all_lung(186;0.182)		1431			59 X approximate tandem repeats.|Ser-rich.		O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	c.4291G>A	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	a	3.722	-0.057377	0.07317	.	.	ENSG00000169876	ENST00000306151	T	0.02656	4.21	0.982	-0.425	0.12317	.	.	.	.	.	T	0.01558	0.0050	N	0.19112	0.55	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.48779	-0.9005	9	0.02654	T	1	.	4.4511	0.11621	0.488:0.0:0.512:0.0	.	1431	Q685J3	MUC17_HUMAN	T	1431	ENSP00000302716:A1431T	ENSP00000302716:A1431T	A	+	1	0	MUC17	100465708	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	-2.968000	0.00669	-0.790000	0.04492	-1.616000	0.00795	GCT		0.488	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		8	580	0	0	0	1	0	8	580				
RP11-423O2.5	0	broad.mit.edu	37	1	142803581	142803581	+	lincRNA	DEL	A	A	-	rs144046594	byFrequency	TCGA-E8-A438-01A-11D-A23U-08	TCGA-E8-A438-10B-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4d31231-1d29-49cd-98d7-a658b3a6460f	01117f3f-623d-4fb0-b04f-0601015e88a3	g.chr1:142803581delA	ENST00000423385.1	-	0	1384																											TCATAGATTTAAAAAATTATG	0.274													|||unknown(NO_COVERAGE)	1073	0.214257	0.0265	0.2594	5008	,	,		109737	0.3373		0.1511	False		,,,				2504	0.3742					ENST00000423385.1																			0																																																			0							g.chr1:142803581delA																													1.37:g.142803581delA														0	1384	-									RNA	DEL	ENST00000423385.1	37																																																																																						0.274	RP11-423O2.5-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000193203.1			8	167						8	167	---	---	---	---
RPTN	126638	broad.mit.edu	37	1	152127881	152127884	+	Frame_Shift_Del	DEL	TGTC	TGTC	-			TCGA-E8-A438-01A-11D-A23U-08	TCGA-E8-A438-10B-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4d31231-1d29-49cd-98d7-a658b3a6460f	01117f3f-623d-4fb0-b04f-0601015e88a3	g.chr1:152127881_152127884delTGTC	ENST00000316073.3	-	3	1755_1758	c.1691_1694delGACA	c.(1690-1695)agacaafs	p.RQ564fs		NM_001122965.1	NP_001116437.1	Q6XPR3	RPTN_HUMAN	repetin	564	Gln-rich.					cornified envelope (GO:0001533)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	59						GCTCTGGCCTTGTCTGTCTGTCTG	0.485																																						ENST00000316073.3																			0				breast(2)|central_nervous_system(1)|endometrium(14)|kidney(2)|large_intestine(1)|lung(32)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	59						c.(1690-1695)aafs		repetin																																				SO:0001589	frameshift_variant	126638					proteinaceous extracellular matrix	calcium ion binding	g.chr1:152127881_152127884delTGTC	AK096436	CCDS41397.1	1q21.3	2013-01-10			ENSG00000215853	ENSG00000215853		"""EF-hand domain containing"""	26809	protein-coding gene	gene with protein product		613259				15854042	Standard	NM_001122965		Approved	FLJ39117	uc001ezs.1	Q6XPR3	OTTHUMG00000154095	ENST00000316073.3:c.1691_1694delGACA	1.37:g.152127889_152127892delTGTC	ENSP00000317895:p.Arg564fs						p.RQ564fs	NM_001122965.1	NP_001116437.1	Q6XPR3	RPTN_HUMAN			3	1755_1758	-			564			Gln-rich.		B7ZBZ3	Frame_Shift_Del	DEL	ENST00000316073.3	37	c.1691_1694delGACA	CCDS41397.1																																																																																				0.485	RPTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333867.1	XM_371312		7	1101						7	1101	---	---	---	---
LINC01158	100506421	broad.mit.edu	37	2	105440965	105440966	+	RNA	INS	-	-	TGG	rs200827416|rs376797707		TCGA-E8-A438-01A-11D-A23U-08	TCGA-E8-A438-10B-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4d31231-1d29-49cd-98d7-a658b3a6460f	01117f3f-623d-4fb0-b04f-0601015e88a3	g.chr2:105440965_105440966insTGG	ENST00000458253.1	-	0	147				AC018730.1_ENST00000413121.1_RNA|AC018730.1_ENST00000443988.1_RNA|AC018730.1_ENST00000447876.1_RNA|AC018730.1_ENST00000454729.1_RNA																							gatggtggtgatggtggtggtg	0.569																																						ENST00000458253.1																			0																																																			0							g.chr2:105440965_105440966insTGG																													2.37:g.105440972_105440974dupTGG						AC018730.1_ENST00000447876.1_RNA|AC018730.1_ENST00000454729.1_RNA|AC018730.1_ENST00000413121.1_RNA|AC018730.1_ENST00000443988.1_RNA								0	147	-									RNA	INS	ENST00000458253.1	37																																																																																						0.569	AC018730.1-001	KNOWN	basic	antisense	antisense	OTTHUMT00000329327.1			2	4						2	4	---	---	---	---
LINC00969	440993	broad.mit.edu	37	3	195392917	195392917	+	lincRNA	DEL	T	T	-			TCGA-E8-A438-01A-11D-A23U-08	TCGA-E8-A438-10B-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4d31231-1d29-49cd-98d7-a658b3a6460f	01117f3f-623d-4fb0-b04f-0601015e88a3	g.chr3:195392917delT	ENST00000445430.1	+	0	647									long intergenic non-protein coding RNA 969																		CTTCTTGCCCTTTTTTTTTCT	0.418																																						ENST00000445430.1																			0																																																			0							g.chr3:195392917delT	AK128346		3q29	2013-06-07			ENSG00000242086	ENSG00000242086		"""Long non-coding RNAs"""	48729	non-coding RNA	RNA, long non-coding							Standard	XR_427455		Approved				OTTHUMG00000155834		3.37:g.195392917delT														0	647	+									RNA	DEL	ENST00000445430.1	37																																																																																						0.418	LINC00969-038	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000341951.1			2	4						2	4	---	---	---	---
MAML3	55534	broad.mit.edu	37	4	140811064	140811069	+	In_Frame_Del	DEL	TGCTGC	TGCTGC	-	rs58015886|rs370122702		TCGA-E8-A438-01A-11D-A23U-08	TCGA-E8-A438-10B-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4d31231-1d29-49cd-98d7-a658b3a6460f	01117f3f-623d-4fb0-b04f-0601015e88a3	g.chr4:140811064_140811069delTGCTGC	ENST00000509479.2	-	2	2377_2382	c.1521_1526delGCAGCA	c.(1519-1527)cagcagcaa>caa	p.507_509QQQ>Q	MAML3_ENST00000327122.5_In_Frame_Del_p.351_353QQQ>Q|MAML3_ENST00000398940.1_Splice_Site_p.A37del	NM_018717.4	NP_061187			mastermind-like 3 (Drosophila)											breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	25	all_hematologic(180;0.162)					TGAGtgctgttgctgctgctgctgct	0.515																																						ENST00000509479.2																			0				breast(1)|endometrium(7)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)|urinary_tract(2)	25						c.(1519-1527)caa>ca		mastermind-like 3 (Drosophila)																																				SO:0001651	inframe_deletion	55534				Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	transcription coactivator activity	g.chr4:140811064_140811069delTGCTGC	AB058719	CCDS54805.1	4q31.1	2014-08-12	2003-09-24		ENSG00000196782	ENSG00000196782			16272	protein-coding gene	gene with protein product	"""mastermind (drosophila)-like 3"""	608991	"""trinucleotide repeat containing 3"""	TNRC3		12370315, 12386158	Standard	NM_018717		Approved	KIAA1816, MAM2, CAGH3, GDN	uc021xsg.1	Q96JK9	OTTHUMG00000161441	ENST00000509479.2:c.1521_1526delGCAGCA	4.37:g.140811070_140811075delTGCTGC	ENSP00000421180:p.Gln509_Gln510del					MAML3_ENST00000327122.5_In_Frame_Del_p.QQQ351del|MAML3_ENST00000398940.1_Splice_Site_p.37_splice	p.QQQ507del	NM_018717.4	NP_061187.2	Q96JK9	MAML3_HUMAN			2	2377_2382	-	all_hematologic(180;0.162)		506			Gln-rich.			In_Frame_Del	DEL	ENST00000509479.2	37	c.1521_1526delGCAGCA	CCDS54805.1																																																																																				0.515	MAML3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364934.2			17	126						17	126	---	---	---	---
CAMSAP1	157922	broad.mit.edu	37	9	138715799	138715800	+	Frame_Shift_Ins	INS	-	-	T	rs148250832|rs201838505	byFrequency	TCGA-E8-A438-01A-11D-A23U-08	TCGA-E8-A438-10B-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4d31231-1d29-49cd-98d7-a658b3a6460f	01117f3f-623d-4fb0-b04f-0601015e88a3	g.chr9:138715799_138715800insT	ENST00000389532.4	-	10	1460_1461	c.1396_1397insA	c.(1396-1398)accfs	p.T466fs	CAMSAP1_ENST00000409386.3_Frame_Shift_Ins_p.T477fs|CAMSAP1_ENST00000312405.6_Frame_Shift_Ins_p.T188fs|CAMSAP1_ENST00000483991.1_5'UTR	NM_015447.3	NP_056262.3	Q5T5Y3	CAMP1_HUMAN	calmodulin regulated spectrin-associated protein 1	466					cytoskeleton organization (GO:0007010)|neuron projection development (GO:0031175)|regulation of cell morphogenesis (GO:0022604)	cytoplasm (GO:0005737)|microtubule (GO:0005874)	calmodulin binding (GO:0005516)|microtubule binding (GO:0008017)|spectrin binding (GO:0030507)			breast(3)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(11)|lung(16)|ovary(3)|pancreas(1)|skin(1)	47				OV - Ovarian serous cystadenocarcinoma(145;1.4e-06)|Epithelial(140;1.11e-05)		GACTCACCTGGTTTTTTTTTCT	0.46																																						ENST00000389532.4																			0				breast(3)|central_nervous_system(2)|endometrium(6)|kidney(4)|large_intestine(11)|lung(16)|ovary(3)|pancreas(1)|skin(1)	47						c.(1396-1398)cagfs		calmodulin regulated spectrin-associated protein 1																																				SO:0001589	frameshift_variant	157922					cytoplasm|microtubule		g.chr9:138715799_138715800insT	AJ519841	CCDS35176.2	9q34.3	2008-02-05			ENSG00000130559	ENSG00000130559			19946	protein-coding gene	gene with protein product		613774				12477932	Standard	NM_015447		Approved	FLJ31228, DKFZp434F195	uc004cgr.4	Q5T5Y3	OTTHUMG00000020918	ENST00000389532.4:c.1397dupA	9.37:g.138715808_138715808dupT	ENSP00000374183:p.Thr466fs					CAMSAP1_ENST00000483991.1_5'UTR|CAMSAP1_ENST00000409386.3_Frame_Shift_Ins_p.Q477fs|CAMSAP1_ENST00000312405.6_Frame_Shift_Ins_p.Q188fs	p.Q466fs	NM_015447.3	NP_056262.3	Q5T5Y3	CAMP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;1.4e-06)|Epithelial(140;1.11e-05)	10	1460_1461	-			466					A1L4L2|B2REB2|B2REB3|Q70W33|Q8NCY0|Q96E80|Q96FM3|Q9UFJ5	Frame_Shift_Ins	INS	ENST00000389532.4	37	c.1396_1397insA	CCDS35176.2																																																																																				0.460	CAMSAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055024.2	XM_351857		2	4						2	4	---	---	---	---
NOLC1	9221	broad.mit.edu	37	10	103919000	103919002	+	In_Frame_Del	DEL	AGC	AGC	-			TCGA-E8-A438-01A-11D-A23U-08	TCGA-E8-A438-10B-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4d31231-1d29-49cd-98d7-a658b3a6460f	01117f3f-623d-4fb0-b04f-0601015e88a3	g.chr10:103919000_103919002delAGC	ENST00000605788.1	+	6	893_895	c.658_660delAGC	c.(658-660)agcdel	p.S227del	NOLC1_ENST00000405356.1_In_Frame_Del_p.S227del|NOLC1_ENST00000488254.2_In_Frame_Del_p.S228del|NOLC1_ENST00000603742.1_5'UTR	NM_001284389.1|NM_004741.3	NP_001271318.1|NP_004732.2	Q14978	NOLC1_HUMAN	nucleolar and coiled-body phosphoprotein 1	227	11 X 12 AA approximate repeats of an acidic serine cluster.|Interacts with RPA194.				cell cycle (GO:0007049)|mitotic nuclear division (GO:0007067)|nucleolus organization (GO:0007000)|rRNA processing (GO:0006364)	Cajal body (GO:0015030)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	31		Colorectal(252;0.122)		Epithelial(162;5.19e-08)|all cancers(201;9.43e-07)		tagcagcagtagcagcagcagca	0.517																																						ENST00000405356.1																			0				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|upper_aerodigestive_tract(1)	31						c.(658-660)del		nucleolar and coiled-body phosphoprotein 1																																				SO:0001651	inframe_deletion	9221				mitosis|rRNA processing	cytoplasm|nucleolus	ATP binding|GTP binding|protein binding	g.chr10:103919000_103919002delAGC	Z34289	CCDS7530.1, CCDS65925.1, CCDS65926.1	10q24.32	2008-08-01			ENSG00000166197	ENSG00000166197			15608	protein-coding gene	gene with protein product		602394				7657714, 10567578	Standard	XM_005270273		Approved	P130, KIAA0035, NOPP140, NOPP130	uc001kuo.2	Q14978	OTTHUMG00000018944	ENST00000605788.1:c.658_660delAGC	10.37:g.103919009_103919011delAGC	ENSP00000474710:p.Ser227del					NOLC1_ENST00000605788.1_In_Frame_Del_p.S227del|NOLC1_ENST00000488254.2_In_Frame_Del_p.S228del|NOLC1_ENST00000603742.1_5'UTR	p.S227del			Q14978	NOLC1_HUMAN		Epithelial(162;5.19e-08)|all cancers(201;9.43e-07)	6	893_895	+		Colorectal(252;0.122)	227			11 X 12 AA approximate repeats of an acidic serine cluster.|Interacts with RPA194.		Q15030|Q5VV70|Q9BUV3	In_Frame_Del	DEL	ENST00000605788.1	37	c.658_660delAGC	CCDS7530.1																																																																																				0.517	NOLC1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000050012.2	NM_004741		7	223						7	223	---	---	---	---
LMNTD2	256329	broad.mit.edu	37	11	555462	555462	+	Frame_Shift_Del	DEL	A	A	-			TCGA-E8-A438-01A-11D-A23U-08	TCGA-E8-A438-10B-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4d31231-1d29-49cd-98d7-a658b3a6460f	01117f3f-623d-4fb0-b04f-0601015e88a3	g.chr11:555462delA	ENST00000329451.3	-	13	1678	c.1616delT	c.(1615-1617)ttcfs	p.F539fs	RP11-496I9.1_ENST00000527620.1_RNA	NM_173573.2	NP_775844.2	Q8IXW0	LMTD2_HUMAN		539	Pro-rich.									NS(1)|breast(1)|central_nervous_system(1)|lung(4)|pancreas(1)	8		all_cancers(49;2.16e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;7.18e-28)|Epithelial(43;6.93e-27)|OV - Ovarian serous cystadenocarcinoma(40;6.97e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)		CCGCGCGTGGAAGAGCTTCCC	0.781																																						ENST00000329451.3																			0				NS(1)|breast(1)|central_nervous_system(1)|lung(4)|pancreas(1)	8						c.(1615-1617)tcfs		chromosome 11 open reading frame 35							3.0	5.0	4.0					11																	555462		1887	3828	5715	SO:0001589	frameshift_variant	256329							g.chr11:555462delA																												ENST00000329451.3:c.1616delT	11.37:g.555462delA	ENSP00000331167:p.Phe539fs						p.F539fs	NM_173573.2	NP_775844.2	Q8IXW0	CK035_HUMAN		all cancers(45;7.18e-28)|Epithelial(43;6.93e-27)|OV - Ovarian serous cystadenocarcinoma(40;6.97e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)	13	1678	-		all_cancers(49;2.16e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)	539			Pro-rich.			Frame_Shift_Del	DEL	ENST00000329451.3	37	c.1616delT	CCDS7701.1																																																																																				0.781	C11orf35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254973.2			2	4						2	4	---	---	---	---
C17orf97	400566	broad.mit.edu	37	17	263586	263645	+	In_Frame_Del	DEL	GACCCCGAGGCCCTCAAGGGCTTCCACCCCGACCCCAAGGCCCTCAAGGGCTTCCACCCC	GACCCCGAGGCCCTCAAGGGCTTCCACCCCGACCCCAAGGCCCTCAAGGGCTTCCACCCC	-	rs71369083|rs76926791|rs71369084|rs9908743|rs180817296|rs532458474|rs571617320|rs71145728|rs75457484|rs372740125|rs184547508	byFrequency	TCGA-E8-A438-01A-11D-A23U-08	TCGA-E8-A438-10B-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4d31231-1d29-49cd-98d7-a658b3a6460f	01117f3f-623d-4fb0-b04f-0601015e88a3	g.chr17:263586_263645delGACCCCGAGGCCCTCAAGGGCTTCCACCCCGACCCCAAGGCCCTCAAGGGCTTCCACCCC	ENST00000360127.6	+	2	968_1027	c.952_1011delGACCCCGAGGCCCTCAAGGGCTTCCACCCCGACCCCAAGGCCCTCAAGGGCTTCCACCCC	c.(952-1011)gaccccgaggccctcaagggcttccaccccgaccccaaggccctcaagggcttccaccccdel	p.DPEALKGFHPDPKALKGFHP318del	C17orf97_ENST00000571106.1_Intron|AC108004.3_ENST00000466740.2_RNA	NM_001013672.4	NP_001013694.4	Q6ZQX7	CQ097_HUMAN	chromosome 17 open reading frame 97	348	20 X 10 AA approximative tandem repeat of A-L-K-G-F-H-P-D-P-E.							p.G334G(4)|p.P327P(1)		breast(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(1)	14						TTTCCACACTGACCCCGAGGCCCTCAAGGGCTTCCACCCCGACCCCAAGGCCCTCAAGGGCTTCCACCCCGACCCCGAGG	0.681																																						ENST00000360127.6																			5	Substitution - coding silent(5)	p.G334G(4)|p.P327P(1)	lung(2)|kidney(2)|prostate(1)	breast(1)|kidney(2)|large_intestine(4)|lung(4)|ovary(1)|prostate(1)|skin(1)	14						c.(952-1011)del		chromosome 17 open reading frame 97				1725,2215		384,957,629						-4.1	0.0		dbSNP_130	25	2103,5705		403,1297,2204	no	coding	C17orf97	NM_001013672.4		787,2254,2833	A1A1,A1R,RR		26.9339,43.7817,32.5843				3828,7920				SO:0001651	inframe_deletion	400566							g.chr17:263586_263645delGACCCCGAGGCCCTCAAGGGCTTCCACCCCGACCCCAAGGCCCTCAAGGGCTTCCACCCC	AK128660, BC057385	CCDS32519.2	17p13.3	2008-08-15			ENSG00000187624	ENSG00000187624			33800	protein-coding gene	gene with protein product						12477932	Standard	NM_001013672		Approved	LOC400566	uc021tna.1	Q6ZQX7	OTTHUMG00000132479	ENST00000360127.6:c.952_1011delGACCCCGAGGCCCTCAAGGGCTTCCACCCCGACCCCAAGGCCCTCAAGGGCTTCCACCCC	17.37:g.263586_263645delGACCCCGAGGCCCTCAAGGGCTTCCACCCCGACCCCAAGGCCCTCAAGGGCTTCCACCCC	ENSP00000353245:p.Asp318_Pro337del					C17orf97_ENST00000571106.1_Intron|AC108004.3_ENST00000466740.2_RNA	p.DPEALKGFHPDPKALKGFHP318del	NM_001013672.4	NP_001013694.4	Q6ZQX7	CQ097_HUMAN			2	968_1027	+			348			20 X 10 AA approximative tandem repeat of A-L-K-G-F-H-P-D-P-E.		A5D8T6|Q6NSI2|Q6PFW9	In_Frame_Del	DEL	ENST00000360127.6	37	c.952_1011delGACCCCGAGGCCCTCAAGGGCTTCCACCCCGACCCCAAGGCCCTCAAGGGCTTCCACCCC	CCDS32519.2																																																																																				0.681	C17orf97-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255648.4	NM_001013672		24	79						24	79	---	---	---	---
VEZF1	7716	broad.mit.edu	37	17	56056605	56056607	+	In_Frame_Del	DEL	TGC	TGC	-	rs61731354|rs73995411|rs57786397|rs369163670	byFrequency	TCGA-E8-A438-01A-11D-A23U-08	TCGA-E8-A438-10B-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4d31231-1d29-49cd-98d7-a658b3a6460f	01117f3f-623d-4fb0-b04f-0601015e88a3	g.chr17:56056605_56056607delTGC	ENST00000581208.1	-	5	1084_1086	c.1044_1046delGCA	c.(1042-1047)cagcaa>caa	p.348_349QQ>Q	VEZF1_ENST00000584396.1_In_Frame_Del_p.339_340QQ>Q	NM_007146.2	NP_009077.2	Q14119	VEZF1_HUMAN	vascular endothelial zinc finger 1	348	Poly-Gln.				angiogenesis (GO:0001525)|cellular defense response (GO:0006968)|endothelial cell development (GO:0001885)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(1)|kidney(2)|lung(5)|ovary(1)	10						ttgttgttgttgctgctgctgct	0.463																																						ENST00000584396.1																			0				breast(1)|endometrium(1)|kidney(2)|lung(5)|ovary(1)	10						c.(1015-1020)caa>ca		vascular endothelial zinc finger 1																																				SO:0001651	inframe_deletion	7716				cellular defense response|regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	nucleus	DNA binding|zinc ion binding	g.chr17:56056605_56056607delTGC	D28118	CCDS32687.1	17q22	2012-10-05	2006-08-16	2006-08-16	ENSG00000136451	ENSG00000136451		"""Zinc fingers, C2H2-type"""	12949	protein-coding gene	gene with protein product		606747	"""zinc finger protein 161"""	ZNF161		8035792	Standard	XM_005257643		Approved	DB1	uc002ivf.1	Q14119	OTTHUMG00000178777	ENST00000581208.1:c.1044_1046delGCA	17.37:g.56056614_56056616delTGC	ENSP00000462337:p.Gln354del					VEZF1_ENST00000581208.1_In_Frame_Del_p.QQ352del	p.QQ343del			Q14119	VEZF1_HUMAN			5	1105_1107	-			352			Poly-Gln.			In_Frame_Del	DEL	ENST00000581208.1	37	c.1017_1019delGCA	CCDS32687.1																																																																																				0.463	VEZF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000443321.1			8	209						8	209	---	---	---	---
CTC-559E9.6	0	broad.mit.edu	37	19	19944259	19944260	+	RNA	DEL	GT	GT	-	rs372149164		TCGA-E8-A438-01A-11D-A23U-08	TCGA-E8-A438-10B-01D-A23U-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	a4d31231-1d29-49cd-98d7-a658b3a6460f	01117f3f-623d-4fb0-b04f-0601015e88a3	g.chr19:19944259_19944260delGT	ENST00000591884.1	+	0	393																											TGGTAAAAACGTGTGTGTGTGT	0.426																																						ENST00000591884.1																			0																																																			0							g.chr19:19944259_19944260delGT																													19.37:g.19944269_19944270delGT														0	393	+									RNA	DEL	ENST00000591884.1	37																																																																																						0.426	CTC-559E9.6-003	KNOWN	basic	antisense	processed_transcript	OTTHUMT00000460786.1			9	161						9	161	---	---	---	---
