#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
HOXB13	10481	broad.mit.edu	37	17	46805666	46805666	+	Missense_Mutation	SNP	A	A	G			TCGA-J4-A67Q-01A-21D-A30E-08	TCGA-J4-A67Q-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	282f9df5-390b-4f67-a898-44746b337dc6	59ffc3d4-1659-40c8-89fe-d48475608509	g.chr17:46805666A>G	ENST00000290295.7	-	1	874	c.290T>C	c.(289-291)cTg>cCg	p.L97P	PRAC2_ENST00000422730.2_RNA	NM_006361.5	NP_006352.2	Q92826	HXB13_HUMAN	homeobox B13	97					angiogenesis (GO:0001525)|epidermis development (GO:0008544)|epithelial cell maturation involved in prostate gland development (GO:0060743)|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis (GO:0060527)|regulation of growth (GO:0040008)|regulation of transcription, DNA-templated (GO:0006355)|response to testosterone (GO:0033574)|response to wounding (GO:0009611)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	sequence-specific DNA binding (GO:0043565)			endometrium(2)|kidney(2)|lung(6)|prostate(1)	11						ACAGGGTTTCAGCGAGCTCCG	0.672																																						ENST00000290295.7																			0				endometrium(2)|kidney(2)|lung(6)|prostate(1)	11						c.(289-291)cTg>cCg		homeobox B13							46.0	57.0	53.0					17																	46805666		2203	4300	6503	SO:0001583	missense	10481				angiogenesis|epidermis development|response to wounding		sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr17:46805666A>G	U57052	CCDS11536.1	17q21.32	2014-09-17	2005-12-22		ENSG00000159184	ENSG00000159184		"""Homeoboxes / ANTP class : HOXL subclass"""	5112	protein-coding gene	gene with protein product		604607	"""homeo box B13"""			8756292, 9665387	Standard	NM_006361		Approved		uc002ioa.3	Q92826	OTTHUMG00000159900	ENST00000290295.7:c.290T>C	17.37:g.46805666A>G	ENSP00000290295:p.Leu97Pro						p.L97P	NM_006361.5	NP_006352.2	Q92826	HXB13_HUMAN			1	874	-			97					B2R878|Q96QM4|Q99810	Missense_Mutation	SNP	ENST00000290295.7	37	c.290T>C	CCDS11536.1	.	.	.	.	.	.	.	.	.	.	A	19.26	3.792771	0.70452	.	.	ENSG00000159184	ENST00000290295	T	0.46819	0.86	4.55	4.55	0.56014	.	0.000000	0.64402	D	0.000002	T	0.63414	0.2509	M	0.64997	1.995	0.80722	D	1	D	0.89917	1.0	D	0.76071	0.987	T	0.63060	-0.6721	10	0.39692	T	0.17	.	12.8765	0.57994	1.0:0.0:0.0:0.0	.	97	Q92826	HXB13_HUMAN	P	97	ENSP00000290295:L97P	ENSP00000290295:L97P	L	-	2	0	HOXB13	44160665	1.000000	0.71417	1.000000	0.80357	0.888000	0.51559	4.650000	0.61440	1.904000	0.55121	0.379000	0.24179	CTG		0.672	HOXB13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358087.3	NM_006361		20	127	0	0	0	1	0	20	127				
ROR2	4920	broad.mit.edu	37	9	94486363	94486363	+	Missense_Mutation	SNP	T	T	C			TCGA-J4-A67Q-01A-21D-A30E-08	TCGA-J4-A67Q-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	282f9df5-390b-4f67-a898-44746b337dc6	59ffc3d4-1659-40c8-89fe-d48475608509	g.chr9:94486363T>C	ENST00000375708.3	-	9	2611	c.2413A>G	c.(2413-2415)Aag>Gag	p.K805E	ROR2_ENST00000550066.1_5'UTR|ROR2_ENST00000375715.1_Intron	NM_004560.3	NP_004551.2	Q01974	ROR2_HUMAN	receptor tyrosine kinase-like orphan receptor 2	805	Pro-rich.				cartilage condensation (GO:0001502)|cell differentiation (GO:0030154)|embryonic genitalia morphogenesis (GO:0030538)|inner ear morphogenesis (GO:0042472)|JNK cascade (GO:0007254)|multicellular organismal development (GO:0007275)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell migration (GO:0030335)|positive regulation of transcription, DNA-templated (GO:0045893)|signal transduction (GO:0007165)|somitogenesis (GO:0001756)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|Wnt signaling pathway, calcium modulating pathway (GO:0007223)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	clathrin-coated endocytic vesicle membrane (GO:0030669)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|Wnt-protein binding (GO:0017147)			autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						ATCTGGCCCTTCATGGGGATG	0.662																																						ENST00000375708.3																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						c.(2413-2415)Aag>Gag		receptor tyrosine kinase-like orphan receptor 2							43.0	51.0	48.0					9																	94486363		2201	4300	6501	SO:0001583	missense	4920				negative regulation of cell proliferation|positive regulation of cell migration|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding	g.chr9:94486363T>C	M97639	CCDS6691.1	9q22	2013-01-11			ENSG00000169071	ENSG00000169071		"""Immunoglobulin superfamily / I-set domain containing"""	10257	protein-coding gene	gene with protein product		602337		NTRKR2, BDB, BDB1		1334494, 10700182	Standard	NM_004560		Approved		uc004arj.2	Q01974	OTTHUMG00000020211	ENST00000375708.3:c.2413A>G	9.37:g.94486363T>C	ENSP00000364860:p.Lys805Glu					ROR2_ENST00000375715.1_Intron|ROR2_ENST00000550066.1_5'UTR	p.K805E	NM_004560.3	NP_004551.2	Q01974	ROR2_HUMAN			9	2611	-			805			Pro-rich.		Q59GF5|Q5SPI5|Q9HAY7|Q9HB61	Missense_Mutation	SNP	ENST00000375708.3	37	c.2413A>G	CCDS6691.1	.	.	.	.	.	.	.	.	.	.	T	13.24	2.179186	0.38511	.	.	ENSG00000169071	ENST00000375708	T	0.76316	-1.01	4.65	4.65	0.58169	.	0.000000	0.44097	D	0.000485	T	0.70290	0.3207	N	0.24115	0.695	0.40707	D	0.982538	D	0.59767	0.986	P	0.49922	0.626	T	0.67597	-0.5630	10	0.15499	T	0.54	.	14.2745	0.66170	0.0:0.0:0.0:1.0	.	805	Q01974	ROR2_HUMAN	E	805	ENSP00000364860:K805E	ENSP00000364860:K805E	K	-	1	0	ROR2	93526184	1.000000	0.71417	1.000000	0.80357	0.755000	0.42902	1.833000	0.39161	1.957000	0.56846	0.459000	0.35465	AAG		0.662	ROR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053040.1			8	77	0	0	0	1	0	8	77				
RYBP	23429	broad.mit.edu	37	3	72427735	72427735	+	Missense_Mutation	SNP	A	A	C			TCGA-J4-A67Q-01A-21D-A30E-08	TCGA-J4-A67Q-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	282f9df5-390b-4f67-a898-44746b337dc6	59ffc3d4-1659-40c8-89fe-d48475608509	g.chr3:72427735A>C	ENST00000477973.2	-	4	752	c.753T>G	c.(751-753)tgT>tgG	p.C251W		NM_012234.5	NP_036366.3	Q8N488	RYBP_HUMAN	RING1 and YY1 binding protein	0					apoptotic process (GO:0006915)|histone H2A monoubiquitination (GO:0035518)|multicellular organismal development (GO:0007275)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			prostate(1)|upper_aerodigestive_tract(1)	2		Prostate(10;0.00174)|Lung NSC(201;0.0659)|Myeloproliferative disorder(1037;0.204)		BRCA - Breast invasive adenocarcinoma(55;0.000197)|Epithelial(33;0.00068)|LUSC - Lung squamous cell carcinoma(21;0.00228)|Lung(16;0.00677)|KIRC - Kidney renal clear cell carcinoma(39;0.198)|Kidney(39;0.232)		GACGTTGCCCACAGTTACTGC	0.512																																						ENST00000477973.1																			0				prostate(1)|upper_aerodigestive_tract(1)	2						c.(751-753)tgT>tgG		RING1 and YY1 binding protein							125.0	120.0	122.0					3																	72427735		2100	4204	6304	SO:0001583	missense	23429				apoptosis|histone H2A monoubiquitination|multicellular organismal development|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	cytoplasm|nucleoplasm	DNA binding|protein binding|transcription corepressor activity|zinc ion binding	g.chr3:72427735A>C	AF179286		3p14.2	2008-07-18			ENSG00000163602	ENSG00000163602			10480	protein-coding gene	gene with protein product	"""YY1 and E4TF1 associated factor 1"", ""ring1 interactor RYBP"", ""apoptin-associating protein 1"", ""death effector domain-associated factor"""	607535				10369680	Standard	NM_012234		Approved	YEAF1, AAP1, DEDAF	uc003dpe.3	Q8N488	OTTHUMG00000159190	ENST00000477973.2:c.753T>G	3.37:g.72427735A>C	ENSP00000419494:p.Cys251Trp						p.C251W	NM_012234.5	NP_036366.3	Q8N488	RYBP_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.000197)|Epithelial(33;0.00068)|LUSC - Lung squamous cell carcinoma(21;0.00228)|Lung(16;0.00677)|KIRC - Kidney renal clear cell carcinoma(39;0.198)|Kidney(39;0.232)	4	752	-		Prostate(10;0.00174)|Lung NSC(201;0.0659)|Myeloproliferative disorder(1037;0.204)	0					Q9P2W5|Q9UMW4	Missense_Mutation	SNP	ENST00000477973.2	37	c.753T>G		.	.	.	.	.	.	.	.	.	.	A	18.17	3.565339	0.65651	.	.	ENSG00000163602	ENST00000477973	.	.	.	5.86	4.7	0.59300	.	.	.	.	.	T	0.69486	0.3116	M	0.77486	2.375	.	.	.	.	.	.	.	.	.	T	0.77075	-0.2722	4	.	.	.	-22.1114	12.6901	0.56970	0.8763:0.0:0.0:0.1237	.	.	.	.	W	251	.	.	C	-	3	2	RYBP	72510425	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.287000	0.95975	1.131000	0.42111	0.528000	0.53228	TGT		0.512	RYBP-001	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000353762.3	NM_012234		8	83	0	0	0	1	0	8	83				
MYOM2	9172	broad.mit.edu	37	8	2021549	2021549	+	Silent	SNP	C	C	T			TCGA-J4-A67Q-01A-21D-A30E-08	TCGA-J4-A67Q-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	282f9df5-390b-4f67-a898-44746b337dc6	59ffc3d4-1659-40c8-89fe-d48475608509	g.chr8:2021549C>T	ENST00000262113.4	+	10	1230	c.1089C>T	c.(1087-1089)gtC>gtT	p.V363V	MYOM2_ENST00000523438.1_Intron	NM_003970.2	NP_003961.2	P54296	MYOM2_HUMAN	myomesin 2	363	Ig-like C2-type 2.		V -> I (in dbSNP:rs34316994).		muscle contraction (GO:0006936)	M band (GO:0031430)|mitochondrion (GO:0005739)|myosin filament (GO:0032982)	structural constituent of muscle (GO:0008307)			autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)		GGGGCGGCGTCAGCGACCACA	0.652																																						ENST00000262113.4																			0				autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104						c.(1087-1089)gtC>gtT		myomesin 2							53.0	45.0	48.0					8																	2021549		2203	4300	6503	SO:0001819	synonymous_variant	9172				muscle contraction	myosin filament	structural constituent of muscle	g.chr8:2021549C>T		CCDS5957.1	8p23.3	2014-06-06	2012-10-17		ENSG00000036448	ENSG00000036448		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	7614	protein-coding gene	gene with protein product		603509	"""myomesin (M-protein) 2 (165kD)"", ""myomesin (M-protein) 2, 165kDa"""				Standard	XM_006716237		Approved		uc003wpx.4	P54296	OTTHUMG00000129175	ENST00000262113.4:c.1089C>T	8.37:g.2021549C>T						MYOM2_ENST00000523438.1_Intron	p.V363V	NM_003970.2	NP_003961.2	P54296	MYOM2_HUMAN		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)	10	1230	+		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)	363		V -> I (in dbSNP:rs34316994).	Ig-like C2-type 2.		Q7Z3Y2	Silent	SNP	ENST00000262113.4	37	c.1089C>T	CCDS5957.1																																																																																				0.652	MYOM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251249.1	NM_003970		12	39	0	0	0	1	0	12	39				
FRG1B	284802	broad.mit.edu	37	20	29628245	29628245	+	Missense_Mutation	SNP	G	G	A			TCGA-J4-A67Q-01A-21D-A30E-08	TCGA-J4-A67Q-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	282f9df5-390b-4f67-a898-44746b337dc6	59ffc3d4-1659-40c8-89fe-d48475608509	g.chr20:29628245G>A	ENST00000278882.3	+	6	627	c.247G>A	c.(247-249)Gcc>Acc	p.A83T	FRG1B_ENST00000358464.4_Missense_Mutation_p.A83T|FRG1B_ENST00000439954.2_Missense_Mutation_p.A88T			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	83								p.A83T(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						GGCTTTGTTGGCCTCAAATAG	0.353																																						ENST00000278882.3																			2	Substitution - Missense(2)	p.A83T(2)	urinary_tract(2)	endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(247-249)Gcc>Acc																																						SO:0001583	missense	0							g.chr20:29628245G>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.247G>A	20.37:g.29628245G>A	ENSP00000278882:p.Ala83Thr					FRG1B_ENST00000439954.2_Missense_Mutation_p.A88T|FRG1B_ENST00000358464.4_Missense_Mutation_p.A83T	p.A83T							6	627	+								C4AME5	Missense_Mutation	SNP	ENST00000278882.3	37	c.247G>A		.	.	.	.	.	.	.	.	.	.	g	18.80	3.700173	0.68501	.	.	ENSG00000149531	ENST00000278882;ENST00000439954;ENST00000358464	T	0.50277	0.75	2.08	2.08	0.27032	Actin cross-linking (1);	0.055129	0.64402	D	0.000001	T	0.40473	0.1118	.	.	.	0.51482	D	0.99992	B;P	0.40875	0.016;0.731	B;P	0.45558	0.085;0.485	T	0.12502	-1.0545	9	0.21540	T	0.41	.	10.2211	0.43198	0.0:0.0:1.0:0.0	.	88;83	F5H5R5;Q9BZ01	.;FRG1B_HUMAN	T	83;88;83	ENSP00000408863:A88T	ENSP00000278882:A83T	A	+	1	0	FRG1B	28241906	1.000000	0.71417	1.000000	0.80357	0.609000	0.37215	8.494000	0.90477	1.475000	0.48197	0.423000	0.28283	GCC		0.353	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		5	184	0	0	0	1	0	5	184				
SF3B5	83443	broad.mit.edu	37	6	144416413	144416413	+	Missense_Mutation	SNP	C	C	G			TCGA-J4-A67Q-01A-21D-A30E-08	TCGA-J4-A67Q-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	282f9df5-390b-4f67-a898-44746b337dc6	59ffc3d4-1659-40c8-89fe-d48475608509	g.chr6:144416413C>G	ENST00000367569.2	-	1	341	c.222G>C	c.(220-222)caG>caC	p.Q74H		NM_031287.2	NP_112577.1	Q9BWJ5	SF3B5_HUMAN	splicing factor 3b, subunit 5, 10kDa	74					gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|U12-type spliceosomal complex (GO:0005689)				lung(2)|prostate(1)	3				OV - Ovarian serous cystadenocarcinoma(155;1.68e-06)|GBM - Glioblastoma multiforme(68;0.0638)		GTCCACAAGGCTGAAGCATCT	0.572																																						ENST00000367569.2																			0				lung(2)|prostate(1)	3						c.(220-222)caG>caC		splicing factor 3b, subunit 5, 10kDa							106.0	100.0	102.0					6																	144416413		2203	4300	6503	SO:0001583	missense	83443				nuclear mRNA splicing, via spliceosome	nucleoplasm|U12-type spliceosomal complex		g.chr6:144416413C>G	BC000198	CCDS5204.1	6q24.1	2010-01-26			ENSG00000169976	ENSG00000169976			21083	protein-coding gene	gene with protein product						12234937	Standard	NM_031287		Approved	SF3b10, MGC3133, Ysf3	uc003qkr.1	Q9BWJ5	OTTHUMG00000015737	ENST00000367569.2:c.222G>C	6.37:g.144416413C>G	ENSP00000356541:p.Gln74His						p.Q74H	NM_031287.2	NP_112577.1	Q9BWJ5	SF3B5_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;1.68e-06)|GBM - Glioblastoma multiforme(68;0.0638)	1	341	-			74					B2R568|Q7RTV1	Missense_Mutation	SNP	ENST00000367569.2	37	c.222G>C	CCDS5204.1	.	.	.	.	.	.	.	.	.	.	C	18.46	3.627900	0.66901	.	.	ENSG00000169976	ENST00000367569	.	.	.	5.95	5.95	0.96441	.	0.000000	0.85682	D	0.000000	T	0.47451	0.1446	.	.	.	0.80722	D	1	B	0.23058	0.079	B	0.22386	0.039	T	0.40757	-0.9546	8	0.46703	T	0.11	-25.1392	19.9801	0.97322	0.0:1.0:0.0:0.0	.	74	Q9BWJ5	SF3B5_HUMAN	H	74	.	ENSP00000356541:Q74H	Q	-	3	2	SF3B5	144458106	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	5.967000	0.70403	2.811000	0.96726	0.655000	0.94253	CAG		0.572	SF3B5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042537.1	NM_031287		28	125	0	0	0	1	0	28	125				
FAM96B	51647	broad.mit.edu	37	16	66967968	66967968	+	Splice_Site	SNP	A	A	T			TCGA-J4-A67Q-01A-21D-A30E-08	TCGA-J4-A67Q-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	282f9df5-390b-4f67-a898-44746b337dc6	59ffc3d4-1659-40c8-89fe-d48475608509	g.chr16:66967968A>T	ENST00000422424.2	-	2	179	c.144T>A	c.(142-144)gaT>gaA	p.D48E	CES2_ENST00000417689.1_5'Flank|CES2_ENST00000317091.4_5'Flank	NM_016062.3	NP_057146.1	Q9Y3D0	MIP18_HUMAN	family with sequence similarity 96, member B	48					chromosome segregation (GO:0007059)|small molecule metabolic process (GO:0044281)	CIA complex (GO:0097361)|cytoplasm (GO:0005737)|MMXD complex (GO:0071817)|nucleus (GO:0005634)|spindle (GO:0005819)				kidney(1)	1		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.0862)|Epithelial(162;0.198)		AGCGAATCAGATGTGGGAAGT	0.582																																						ENST00000422424.2																			0				kidney(1)	1						c.e2-1		family with sequence similarity 96, member B							68.0	73.0	71.0					16																	66967968		2086	4208	6294	SO:0001630	splice_region_variant	51647				chromosome segregation	cytoplasm|MMXD complex|nucleus	protein binding	g.chr16:66967968A>T		CCDS45506.1	16q22.1	2014-01-16			ENSG00000166595	ENSG00000166595			24261	protein-coding gene	gene with protein product		614778				11042152, 10810093, 23891004	Standard	NM_016062		Approved	CGI-128	uc021tjy.2	Q9Y3D0	OTTHUMG00000175408	ENST00000422424.2:c.143-1T>A	16.37:g.66967968A>T							p.D48_splice	NM_016062.3	NP_057146.1	Q9Y3D0	MIP18_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.0862)|Epithelial(162;0.198)	2	179	-		Ovarian(137;0.192)	48						Splice_Site	SNP	ENST00000422424.2	37	c.142_splice	CCDS45506.1	.	.	.	.	.	.	.	.	.	.	A	26.1	4.705630	0.89018	.	.	ENSG00000166595	ENST00000422424	.	.	.	5.3	4.18	0.49190	.	.	.	.	.	T	0.61986	0.2391	L	0.60455	1.87	0.51482	D	0.999921	.	.	.	.	.	.	T	0.60505	-0.7250	6	0.38643	T	0.18	.	10.0472	0.42195	0.9097:0.0:0.0903:0.0	.	.	.	.	E	48	.	ENSP00000387471:D48E	D	-	3	2	FAM96B	65525469	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	4.513000	0.60476	2.225000	0.72522	0.460000	0.39030	GAT		0.582	FAM96B-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000429890.1	NM_016062	Missense_Mutation	6	22	0	0	0	1	0	6	22				
DEF8	54849	broad.mit.edu	37	16	90028248	90028248	+	Missense_Mutation	SNP	C	C	G			TCGA-J4-A67Q-01A-21D-A30E-08	TCGA-J4-A67Q-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	282f9df5-390b-4f67-a898-44746b337dc6	59ffc3d4-1659-40c8-89fe-d48475608509	g.chr16:90028248C>G	ENST00000268676.7	+	8	1055	c.966C>G	c.(964-966)caC>caG	p.H322Q	DEF8_ENST00000563795.1_Missense_Mutation_p.H261Q|DEF8_ENST00000567874.1_Missense_Mutation_p.H201Q|DEF8_ENST00000569453.1_Missense_Mutation_p.H261Q|DEF8_ENST00000563594.1_Missense_Mutation_p.H261Q|DEF8_ENST00000563848.1_3'UTR|DEF8_ENST00000570182.1_Missense_Mutation_p.H251Q	NM_207514.2	NP_997397.1	Q6ZN54	DEFI8_HUMAN	differentially expressed in FDCP 8 homolog (mouse)	322					intracellular signal transduction (GO:0035556)		zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)	12		all_cancers(9;7.59e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.0019)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0274)		GCGTTGTACACAACTGGGACT	0.637																																						ENST00000563594.1																			0				central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)	12						c.(781-783)caC>caG		differentially expressed in FDCP 8 homolog (mouse)							53.0	48.0	50.0					16																	90028248		2198	4300	6498	SO:0001583	missense	54849				intracellular signal transduction		zinc ion binding	g.chr16:90028248C>G	AK131370	CCDS10989.1, CCDS45555.1, CCDS58493.1, CCDS58494.1, CCDS58495.1, CCDS58496.1	16q24.3	2011-01-31			ENSG00000140995	ENSG00000140995			25969	protein-coding gene	gene with protein product						12477932	Standard	NM_207514		Approved	FLJ20186	uc002fpn.2	Q6ZN54	OTTHUMG00000138989	ENST00000268676.7:c.966C>G	16.37:g.90028248C>G	ENSP00000268676:p.His322Gln					DEF8_ENST00000567874.1_Missense_Mutation_p.H201Q|DEF8_ENST00000563795.1_Missense_Mutation_p.H261Q|DEF8_ENST00000569453.1_Missense_Mutation_p.H261Q|DEF8_ENST00000268676.7_Missense_Mutation_p.H322Q|DEF8_ENST00000570182.1_Missense_Mutation_p.H251Q|DEF8_ENST00000563848.1_3'UTR	p.H261Q	NM_001242818.1|NM_001242819.1	NP_001229747.1|NP_001229748.1	Q6ZN54	DEFI8_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0274)	8	1780	+		all_cancers(9;7.59e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.0019)|all_hematologic(23;0.0194)	322					B3KT65|B4DK62|B4E0S9|B7Z3H6|H3BUG7|Q8N8N3|Q9NXL0	Missense_Mutation	SNP	ENST00000268676.7	37	c.783C>G	CCDS10989.1	.	.	.	.	.	.	.	.	.	.	c	14.07	2.426102	0.43020	.	.	ENSG00000140995	ENST00000268676	T	0.47869	0.83	3.38	1.39	0.22231	.	0.069846	0.56097	D	0.000025	T	0.58552	0.2130	L	0.58969	1.84	0.50813	D	0.999894	D;D;D	0.71674	0.994;0.988;0.998	P;P;D	0.70935	0.902;0.867;0.971	T	0.58951	-0.7545	10	0.59425	D	0.04	-18.37	9.333	0.38034	0.0:0.802:0.0:0.198	.	261;251;322	Q6ZN54-5;Q6ZN54-3;Q6ZN54	.;.;DEFI8_HUMAN	Q	322	ENSP00000268676:H322Q	ENSP00000268676:H322Q	H	+	3	2	DEF8	88555749	1.000000	0.71417	0.995000	0.50966	0.470000	0.32858	2.012000	0.40932	0.771000	0.33359	-0.348000	0.07805	CAC		0.637	DEF8-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000272878.1	NM_207514		3	56	0	0	0	1	0	3	56				
COL16A1	1307	broad.mit.edu	37	1	32120919	32120919	+	Missense_Mutation	SNP	G	G	A			TCGA-J4-A67Q-01A-21D-A30E-08	TCGA-J4-A67Q-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	282f9df5-390b-4f67-a898-44746b337dc6	59ffc3d4-1659-40c8-89fe-d48475608509	g.chr1:32120919G>A	ENST00000373672.3	-	67	4802	c.4286C>T	c.(4285-4287)tCc>tTc	p.S1429F	RP11-73M7.6_ENST00000609033.1_RNA|RP11-73M7.6_ENST00000609549.1_RNA|RP11-73M7.6_ENST00000445166.1_RNA|RP11-73M7.6_ENST00000587445.1_RNA|RP11-73M7.6_ENST00000589462.1_RNA|RP11-73M7.6_ENST00000608332.1_RNA|RP11-73M7.6_ENST00000609625.1_RNA|RP11-73M7.6_ENST00000607926.1_RNA|COL16A1_ENST00000271069.6_Missense_Mutation_p.S1429F|RP11-73M7.6_ENST00000591592.1_RNA|RP11-73M7.6_ENST00000588288.1_RNA|RP11-73M7.6_ENST00000585413.1_RNA|RP11-73M7.6_ENST00000608246.1_RNA|RP11-73M7.6_ENST00000610043.1_RNA|COL16A1_ENST00000461217.1_5'UTR|RP11-73M7.6_ENST00000591929.1_RNA|RP11-73M7.6_ENST00000608888.1_RNA|RP11-73M7.6_ENST00000609338.1_RNA|RP11-73M7.6_ENST00000585660.1_RNA|RP11-73M7.6_ENST00000609373.1_RNA|RP11-73M7.6_ENST00000593188.1_RNA|RP11-73M7.6_ENST00000610216.1_RNA	NM_001856.3	NP_001847.3	Q07092	COGA1_HUMAN	collagen, type XVI, alpha 1	1429	Triple-helical region 2 (COL2) with 2 imperfections.				cell adhesion (GO:0007155)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|female pregnancy (GO:0007565)|integrin-mediated signaling pathway (GO:0007229)	collagen type XVI trimer (GO:0005597)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	integrin binding (GO:0005178)			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(15)|ovary(8)|prostate(4)	48		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0423)|all_neural(195;0.0837)|Breast(348;0.116)		STAD - Stomach adenocarcinoma(196;0.059)		CCTTACCATGGAGCCAGGCAC	0.652																																					Colon(143;498 1786 21362 25193 36625)	ENST00000373672.3																			0				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(15)|ovary(8)|prostate(4)	48						c.(4285-4287)tCc>tTc		collagen, type XVI, alpha 1							28.0	32.0	31.0					1																	32120919		1986	4152	6138	SO:0001583	missense	1307				cell adhesion|female pregnancy|integrin-mediated signaling pathway	collagen type XVI	integrin binding|structural molecule activity	g.chr1:32120919G>A	M92642	CCDS41297.1	1p35-p34	2013-01-16			ENSG00000084636	ENSG00000084636		"""Collagens"""	2193	protein-coding gene	gene with protein product		120326				1631157	Standard	NM_001856		Approved		uc001btk.1	Q07092	OTTHUMG00000003883	ENST00000373672.3:c.4286C>T	1.37:g.32120919G>A	ENSP00000362776:p.Ser1429Phe					RP11-73M7.6_ENST00000593188.1_RNA|RP11-73M7.6_ENST00000591929.1_RNA|RP11-73M7.6_ENST00000587445.1_RNA|COL16A1_ENST00000461217.1_5'UTR|RP11-73M7.6_ENST00000585660.1_RNA|RP11-73M7.6_ENST00000585413.1_RNA|COL16A1_ENST00000271069.6_Missense_Mutation_p.S1429F|RP11-73M7.6_ENST00000591592.1_RNA|RP11-73M7.6_ENST00000589462.1_RNA	p.S1429F	NM_001856.3	NP_001847.3	Q07092	COGA1_HUMAN		STAD - Stomach adenocarcinoma(196;0.059)	67	4802	-		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0423)|all_neural(195;0.0837)|Breast(348;0.116)	1429			Triple-helical region 2 (COL2) with 2 imperfections.		Q16593|Q59F89|Q71RG9	Missense_Mutation	SNP	ENST00000373672.3	37	c.4286C>T	CCDS41297.1	.	.	.	.	.	.	.	.	.	.	G	16.27	3.075286	0.55646	.	.	ENSG00000084636	ENST00000373672;ENST00000271069	D;D	0.90261	-2.63;-2.64	5.07	5.07	0.68467	.	0.141236	0.46145	D	0.000314	D	0.90225	0.6944	L	0.38175	1.15	0.38954	D	0.958403	P;P	0.52061	0.917;0.95	P;P	0.53809	0.548;0.735	D	0.89979	0.4099	10	0.35671	T	0.21	.	15.7158	0.77667	0.0:0.0:1.0:0.0	.	1429;1427	Q07092;Q07092-2	COGA1_HUMAN;.	F	1429	ENSP00000362776:S1429F;ENSP00000271069:S1429F	ENSP00000271069:S1429F	S	-	2	0	COL16A1	31893506	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	3.839000	0.55835	2.522000	0.85027	0.561000	0.74099	TCC		0.652	COL16A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011057.2	NM_001856		11	62	0	0	0	1	0	11	62				
OR4K2	390431	broad.mit.edu	37	14	20344654	20344654	+	Silent	SNP	C	C	T	rs370258306		TCGA-J4-A67Q-01A-21D-A30E-08	TCGA-J4-A67Q-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	282f9df5-390b-4f67-a898-44746b337dc6	59ffc3d4-1659-40c8-89fe-d48475608509	g.chr14:20344654C>T	ENST00000298642.2	+	1	264	c.228C>T	c.(226-228)ttC>ttT	p.F76F		NM_001005501.1	NP_001005501.1	Q8NGD2	OR4K2_HUMAN	olfactory receptor, family 4, subfamily K, member 2	76						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(16)|ovary(2)|skin(9)|upper_aerodigestive_tract(2)	43	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		TTGCTTCTTTCGCCACCCCAA	0.418																																						ENST00000298642.2																			0				NS(1)|endometrium(5)|kidney(2)|large_intestine(6)|lung(16)|ovary(2)|skin(9)|upper_aerodigestive_tract(2)	43						c.(226-228)ttC>ttT		olfactory receptor, family 4, subfamily K, member 2		C		0,4406		0,0,2203	291.0	280.0	284.0		228	4.1	1.0	14		284	1,8599		0,1,4299	no	coding-synonymous	OR4K2	NM_001005501.1		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		76/315	20344654	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	390431				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20344654C>T		CCDS32023.1	14q11.2	2013-09-23			ENSG00000165762	ENSG00000165762		"""GPCR / Class A : Olfactory receptors"""	14728	protein-coding gene	gene with protein product							Standard	NM_001005501		Approved		uc001vwh.1	Q8NGD2	OTTHUMG00000170624	ENST00000298642.2:c.228C>T	14.37:g.20344654C>T							p.F76F	NM_001005501.1	NP_001005501.1	Q8NGD2	OR4K2_HUMAN	Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)	1	264	+	all_cancers(95;0.00108)		76					B2RNK8|Q6IFA5	Silent	SNP	ENST00000298642.2	37	c.228C>T	CCDS32023.1																																																																																				0.418	OR4K2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409864.1			52	326	0	0	0	1	0	52	326				
ATM	472	broad.mit.edu	37	11	108143527	108143527	+	Missense_Mutation	SNP	C	C	G			TCGA-J4-A67Q-01A-21D-A30E-08	TCGA-J4-A67Q-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	282f9df5-390b-4f67-a898-44746b337dc6	59ffc3d4-1659-40c8-89fe-d48475608509	g.chr11:108143527C>G	ENST00000452508.2	+	23	3421	c.3232C>G	c.(3232-3234)Ctt>Gtt	p.L1078V	ATM_ENST00000278616.4_Missense_Mutation_p.L1078V			Q13315	ATM_HUMAN	ATM serine/threonine kinase	1078					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|DNA damage induced protein phosphorylation (GO:0006975)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|heart development (GO:0007507)|histone mRNA catabolic process (GO:0071044)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|lipoprotein catabolic process (GO:0042159)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of B cell proliferation (GO:0030889)|neuron apoptotic process (GO:0051402)|oocyte development (GO:0048599)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|positive regulation of neuron apoptotic process (GO:0043525)|pre-B cell allelic exclusion (GO:0002331)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reciprocal meiotic recombination (GO:0007131)|replicative senescence (GO:0090399)|response to hypoxia (GO:0001666)|response to ionizing radiation (GO:0010212)|signal transduction (GO:0007165)|signal transduction involved in mitotic G2 DNA damage checkpoint (GO:0072434)|somitogenesis (GO:0001756)|telomere maintenance (GO:0000723)	cytoplasmic vesicle (GO:0031410)|nucleoplasm (GO:0005654)|spindle (GO:0005819)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA-dependent protein kinase activity (GO:0004677)|histone serine kinase activity (GO:0035174)|protein complex binding (GO:0032403)|protein dimerization activity (GO:0046983)|protein N-terminus binding (GO:0047485)|protein serine/threonine kinase activity (GO:0004674)			NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)	Caffeine(DB00201)	TACACAATTTCTTGCTGACAA	0.388			"""D, Mis, N, F, S"""		T-PLL	"""leukemia, lymphoma, medulloblastoma, glioma"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Ataxia Telangiectasia	TSP Lung(14;0.12)																												ENST00000278616.4			yes	Rec	yes	Ataxia-telangiectasia	11	11q22.3	472	"""D, Mis, N, F, S"""	ataxia telangiectasia mutated			"""L, O"""		"""leukemia, lymphoma, medulloblastoma, glioma"""	T-PLL		0				NS(4)|breast(23)|central_nervous_system(11)|endometrium(10)|haematopoietic_and_lymphoid_tissue(227)|kidney(19)|large_intestine(53)|liver(5)|lung(62)|ovary(6)|pancreas(4)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	448						c.(3232-3234)Ctt>Gtt	Genes defective in diseases associated with sensitivity to DNA damaging agents	ataxia telangiectasia mutated							138.0	129.0	132.0					11																	108143527		2201	4298	6499	SO:0001583	missense	472	Ataxia Telangiectasia	Familial Cancer Database	AT, Louis-Bar syndrome	cell cycle arrest|cellular response to gamma radiation|DNA damage induced protein phosphorylation|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|double-strand break repair via homologous recombination|G2/M transition DNA damage checkpoint|histone mRNA catabolic process|mitotic cell cycle spindle assembly checkpoint|negative regulation of B cell proliferation|peptidyl-serine phosphorylation|positive regulation of DNA damage response, signal transduction by p53 class mediator|pre-B cell allelic exclusion|protein autophosphorylation|reciprocal meiotic recombination|replicative senescence	cytoplasmic membrane-bounded vesicle|nucleoplasm	1-phosphatidylinositol-3-kinase activity|ATP binding|DNA binding|DNA-dependent protein kinase activity|identical protein binding|protein complex binding|protein dimerization activity|protein N-terminus binding	g.chr11:108143527C>G	AB209133	CCDS31669.1	11q22-q23	2014-09-17	2014-06-17		ENSG00000149311	ENSG00000149311			795	protein-coding gene	gene with protein product	"""TEL1, telomere maintenance 1, homolog (S. cerevisiae)"""	607585	"""ataxia telangiectasia mutated (includes complementation groups A, C and D)"", ""ataxia telangiectasia mutated"""	ATA, ATDC, ATC, ATD			Standard	XM_005271561		Approved	TEL1, TELO1	uc001pkb.1	Q13315	OTTHUMG00000166480	ENST00000452508.2:c.3232C>G	11.37:g.108143527C>G	ENSP00000388058:p.Leu1078Val	TSP Lung(14;0.12)				ATM_ENST00000452508.2_Missense_Mutation_p.L1078V	p.L1078V	NM_000051.3	NP_000042.3	Q13315	ATM_HUMAN		Epithelial(105;9.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.06e-05)|all cancers(92;0.000208)|Colorectal(284;0.116)|OV - Ovarian serous cystadenocarcinoma(223;0.147)	22	3617	+		all_cancers(61;9.64e-12)|all_epithelial(67;9.97e-08)|Melanoma(852;2.55e-06)|Acute lymphoblastic leukemia(157;3.95e-05)|all_hematologic(158;0.00014)|Breast(348;0.0258)|all_neural(303;0.072)	1078					B2RNX5|O15429|Q12758|Q16551|Q93007|Q9NP02|Q9UCX7	Missense_Mutation	SNP	ENST00000452508.2	37	c.3232C>G	CCDS31669.1	.	.	.	.	.	.	.	.	.	.	C	23.0	4.359961	0.82353	.	.	ENSG00000149311	ENST00000527805;ENST00000278616;ENST00000452508	T;T;T	0.76186	-1.0;-1.0;-1.0	5.63	5.63	0.86233	Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.86481	0.5943	M	0.71581	2.175	0.45239	D	0.998247	D	0.89917	1.0	D	0.83275	0.996	D	0.86719	0.1941	10	0.72032	D	0.01	.	20.0499	0.97621	0.0:1.0:0.0:0.0	.	1078	Q13315	ATM_HUMAN	V	1078	ENSP00000435747:L1078V;ENSP00000278616:L1078V;ENSP00000388058:L1078V	ENSP00000278616:L1078V	L	+	1	0	ATM	107648737	1.000000	0.71417	1.000000	0.80357	0.875000	0.50365	6.305000	0.72805	2.798000	0.96311	0.655000	0.94253	CTT		0.388	ATM-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389938.1	NM_000051		6	56	0	0	0	1	0	6	56				
ADAMTS14	140766	broad.mit.edu	37	10	72498708	72498708	+	Silent	SNP	C	C	T	rs564750212	byFrequency	TCGA-J4-A67Q-01A-21D-A30E-08	TCGA-J4-A67Q-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	282f9df5-390b-4f67-a898-44746b337dc6	59ffc3d4-1659-40c8-89fe-d48475608509	g.chr10:72498708C>T	ENST00000373207.1	+	11	1710	c.1710C>T	c.(1708-1710)ggC>ggT	p.G570G	ADAMTS14_ENST00000373208.1_Silent_p.G573G	NM_080722.3	NP_542453.2	Q8WXS8	ATS14_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 14	570	TSP type-1 1. {ECO:0000255|PROSITE- ProRule:PRU00210}.				collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(15)|ovary(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						CATGTGGGGGCGGGGTGCGAT	0.652													C|||	2	0.000399361	0.0	0.0	5008	,	,		18293	0.0		0.0	False		,,,				2504	0.002					ENST00000373208.1																			0				NS(1)|autonomic_ganglia(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(15)|ovary(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						c.(1717-1719)ggC>ggT		ADAM metallopeptidase with thrombospondin type 1 motif, 14							57.0	53.0	54.0					10																	72498708		2203	4300	6503	SO:0001819	synonymous_variant	140766				collagen catabolic process|proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr10:72498708C>T	AF358666	CCDS7306.1, CCDS7307.1	10q21	2008-08-01	2005-08-19		ENSG00000138316	ENSG00000138316		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	14899	protein-coding gene	gene with protein product		607506	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 14"""			11779638	Standard	NM_139155		Approved		uc001jrg.3	Q8WXS8	OTTHUMG00000018414	ENST00000373207.1:c.1710C>T	10.37:g.72498708C>T						ADAMTS14_ENST00000373207.1_Silent_p.G570G	p.G573G	NM_139155.2	NP_631894.2	Q8WXS8	ATS14_HUMAN			11	1719	+			570			TSP type-1 1.		Q5T4G0|Q5T4G1|Q8TE55|Q8TEY8	Silent	SNP	ENST00000373207.1	37	c.1719C>T	CCDS7306.1																																																																																				0.652	ADAMTS14-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000048522.1	NM_080722		5	48	0	0	0	1	0	5	48				
ALPK2	115701	broad.mit.edu	37	18	56246844	56246844	+	Silent	SNP	C	C	T	rs78302914	byFrequency	TCGA-J4-A67Q-01A-21D-A30E-08	TCGA-J4-A67Q-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	282f9df5-390b-4f67-a898-44746b337dc6	59ffc3d4-1659-40c8-89fe-d48475608509	g.chr18:56246844C>T	ENST00000361673.3	-	4	1377	c.1164G>A	c.(1162-1164)tcG>tcA	p.S388S	ALPK2_ENST00000587399.1_5'Flank	NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN	alpha-kinase 2	388						nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						CAGCGTCACCCGACACCCGAG	0.547											OREG0025011	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	c|||	6	0.00119808	0.0045	0.0	5008	,	,		18677	0.0		0.0	False		,,,				2504	0.0					ENST00000361673.3																			0				NS(1)|central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(33)|ovary(7)|prostate(1)|skin(10)|upper_aerodigestive_tract(2)	84						c.(1162-1164)tcG>tcA		alpha-kinase 2		T		10,4396	16.8+/-37.8	0,10,2193	100.0	92.0	95.0		1164	-10.6	0.0	18	dbSNP_131	95	0,8600		0,0,4300	no	coding-synonymous	ALPK2	NM_052947.3		0,10,6493	TT,TC,CC		0.0,0.227,0.0769		388/2171	56246844	10,12996	2203	4300	6503	SO:0001819	synonymous_variant	115701						ATP binding|protein serine/threonine kinase activity	g.chr18:56246844C>T	AY044450	CCDS11966.2	18q21.31	2013-01-11			ENSG00000198796	ENSG00000198796		"""Immunoglobulin superfamily / I-set domain containing"""	20565	protein-coding gene	gene with protein product	"""heart alpha-kinase"""					10021370	Standard	NM_052947		Approved	HAK	uc002lhj.4	Q86TB3	OTTHUMG00000132755	ENST00000361673.3:c.1164G>A	18.37:g.56246844C>T			OREG0025011	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1014		p.S388S	NM_052947.3	NP_443179.3	Q86TB3	ALPK2_HUMAN			4	1377	-			388					Q6ZUX0|Q8NAT5|Q96L95	Silent	SNP	ENST00000361673.3	37	c.1164G>A	CCDS11966.2																																																																																				0.547	ALPK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256126.1	NM_052947		12	69	0	0	0	1	0	12	69				
DYNC1H1	1778	broad.mit.edu	37	14	102452709	102452709	+	Missense_Mutation	SNP	G	G	A			TCGA-J4-A67Q-01A-21D-A30E-08	TCGA-J4-A67Q-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	282f9df5-390b-4f67-a898-44746b337dc6	59ffc3d4-1659-40c8-89fe-d48475608509	g.chr14:102452709G>A	ENST00000360184.4	+	8	2311	c.2147G>A	c.(2146-2148)cGc>cAc	p.R716H		NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN	dynein, cytoplasmic 1, heavy chain 1	716	Interaction with DYNC1LI2. {ECO:0000250}.|Stem. {ECO:0000250}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|cytoplasmic mRNA processing body assembly (GO:0033962)|G2/M transition of mitotic cell cycle (GO:0000086)|microtubule-based movement (GO:0007018)|mitotic cell cycle (GO:0000278)|mitotic spindle organization (GO:0007052)|stress granule assembly (GO:0034063)|transport (GO:0006810)	centrosome (GO:0005813)|cytoplasmic dynein complex (GO:0005868)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|membrane (GO:0016020)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|poly(A) RNA binding (GO:0044822)			NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						GTCTCGGGGCGCATTTTCACC	0.502																																						ENST00000360184.4																			0				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(5)|cervix(1)|endometrium(21)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(28)|lung(60)|ovary(9)|pancreas(1)|prostate(6)|skin(7)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	166						c.(2146-2148)cGc>cAc		dynein, cytoplasmic 1, heavy chain 1							75.0	62.0	67.0					14																	102452709		2203	4300	6503	SO:0001583	missense	1778				cytoplasmic mRNA processing body assembly|G2/M transition of mitotic cell cycle|microtubule-based movement|mitotic spindle organization|stress granule assembly|transport	centrosome|cytoplasmic dynein complex|cytosol|Golgi apparatus|microtubule	ATP binding|ATPase activity, coupled|microtubule motor activity|protein binding	g.chr14:102452709G>A	AB002323	CCDS9966.1	14q32.31	2006-12-21	2005-11-24	2005-11-24		ENSG00000197102		"""Cytoplasmic dyneins"""	2961	protein-coding gene	gene with protein product		600112	"""dynein, cytoplasmic, heavy polypeptide 1"""	DNECL, DNCL, DNCH1		16260502, 8666668	Standard	NM_001376		Approved	Dnchc1, HL-3, p22, DHC1	uc001yks.2	Q14204		ENST00000360184.4:c.2147G>A	14.37:g.102452709G>A	ENSP00000348965:p.Arg716His						p.R716H	NM_001376.4	NP_001367.2	Q14204	DYHC1_HUMAN			8	2311	+			716			Interaction with DYNC1LI2 (By similarity).|Stem (By similarity).		B0I1R0|Q6DKQ7|Q8WU28|Q92814|Q9Y4G5	Missense_Mutation	SNP	ENST00000360184.4	37	c.2147G>A	CCDS9966.1	.	.	.	.	.	.	.	.	.	.	G	17.29	3.351377	0.61183	.	.	ENSG00000197102	ENST00000360184	T	0.56611	0.45	5.71	5.71	0.89125	Dynein heavy chain, domain-1 (1);	0.000000	0.85682	D	0.000000	T	0.58395	0.2119	M	0.75150	2.29	0.80722	D	1	B	0.28350	0.208	B	0.28553	0.091	T	0.58470	-0.7631	10	0.52906	T	0.07	.	19.8442	0.96702	0.0:0.0:1.0:0.0	.	716	Q14204	DYHC1_HUMAN	H	716	ENSP00000348965:R716H	ENSP00000348965:R716H	R	+	2	0	DYNC1H1	101522462	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	7.643000	0.83403	2.696000	0.92011	0.655000	0.94253	CGC		0.502	DYNC1H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414574.1	NM_001376		3	41	0	0	0	1	0	3	41				
KIAA1161	57462	broad.mit.edu	37	9	34372001	34372001	+	Missense_Mutation	SNP	C	C	G			TCGA-J4-A67Q-01A-21D-A30E-08	TCGA-J4-A67Q-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	282f9df5-390b-4f67-a898-44746b337dc6	59ffc3d4-1659-40c8-89fe-d48475608509	g.chr9:34372001C>G	ENST00000297625.7	-	2	1064	c.839G>C	c.(838-840)cGa>cCa	p.R280P		NM_020702.3	NP_065753.2	Q6NSJ0	K1161_HUMAN	KIAA1161	314					carbohydrate metabolic process (GO:0005975)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of protein kinase B signaling (GO:0051897)|skeletal muscle fiber development (GO:0048741)	integral component of membrane (GO:0016021)|nuclear membrane (GO:0031965)	hydrolase activity, hydrolyzing O-glycosyl compounds (GO:0004553)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)	12			LUSC - Lung squamous cell carcinoma(29;0.0107)	GBM - Glioblastoma multiforme(74;0.126)		AATGGGGTCTCGGAAGGCCTC	0.612																																						ENST00000297625.7																			0				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)	12						c.(838-840)cGa>cCa		KIAA1161							60.0	63.0	62.0					9																	34372001		2063	4187	6250	SO:0001583	missense	57462				carbohydrate metabolic process	integral to membrane	hydrolase activity, hydrolyzing O-glycosyl compounds	g.chr9:34372001C>G	AB032987		9p11.2	2009-11-06			ENSG00000164976	ENSG00000164976			19918	protein-coding gene	gene with protein product						10574461	Standard	XM_006716808		Approved	NET37	uc003zue.4	Q6NSJ0	OTTHUMG00000019816	ENST00000297625.7:c.839G>C	9.37:g.34372001C>G	ENSP00000297625:p.Arg280Pro						p.R280P	NM_020702.3	NP_065753.2	Q6NSJ0	K1161_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.0107)	GBM - Glioblastoma multiforme(74;0.126)	2	1064	-			314					Q5T587|Q5T588|Q9ULQ9	Missense_Mutation	SNP	ENST00000297625.7	37	c.839G>C		.	.	.	.	.	.	.	.	.	.	C	18.55	3.647966	0.67358	.	.	ENSG00000164976	ENST00000297625	T	0.38077	1.16	6.08	5.18	0.71444	Aldolase-type TIM barrel (1);Glycoside hydrolase, superfamily (1);	0.376195	0.27219	N	0.020368	T	0.50034	0.1592	M	0.79123	2.44	0.45118	D	0.998137	P	0.48694	0.914	P	0.51999	0.687	T	0.52873	-0.8517	10	0.49607	T	0.09	-9.6627	10.1365	0.42710	0.0:0.8486:0.0:0.1514	.	314	Q6NSJ0	K1161_HUMAN	P	280	ENSP00000297625:R280P	ENSP00000297625:R280P	R	-	2	0	KIAA1161	34362001	0.923000	0.31300	0.995000	0.50966	0.991000	0.79684	2.082000	0.41605	1.591000	0.50007	0.655000	0.94253	CGA		0.612	KIAA1161-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000052158.1	XM_351807		10	61	0	0	0	1	0	10	61				
TLE4	7091	broad.mit.edu	37	9	82339965	82339965	+	Missense_Mutation	SNP	C	C	T			TCGA-J4-A67Q-01A-21D-A30E-08	TCGA-J4-A67Q-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	282f9df5-390b-4f67-a898-44746b337dc6	59ffc3d4-1659-40c8-89fe-d48475608509	g.chr9:82339965C>T	ENST00000376552.2	+	20	3246	c.2228C>T	c.(2227-2229)tCa>tTa	p.S743L	TLE4_ENST00000376534.4_Missense_Mutation_p.S380L|TLE4_ENST00000376520.4_Missense_Mutation_p.S775L|TLE4_ENST00000265284.6_Missense_Mutation_p.S718L|TLE4_ENST00000376544.3_Missense_Mutation_p.S674L|TLE4_ENST00000376537.4_Missense_Mutation_p.S775L	NM_007005.3	NP_008936.2	Q04727	TLE4_HUMAN	transducin-like enhancer of split 4	743					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|Wnt signaling pathway (GO:0016055)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|transcription corepressor activity (GO:0003714)			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	39						AAAGAATCCTCATCGGTGCTT	0.368																																						ENST00000376520.4																			0				breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	39						c.(2323-2325)tCa>tTa		transducin-like enhancer of split 4 (E(sp1) homolog, Drosophila)							120.0	114.0	116.0					9																	82339965		1962	4199	6161	SO:0001583	missense	7091							g.chr9:82339965C>T	M99439	CCDS43837.1, CCDS65069.1, CCDS65070.1, CCDS75851.1	9q21.32	2014-03-07	2014-03-07		ENSG00000106829	ENSG00000106829		"""WD repeat domain containing"""	11840	protein-coding gene	gene with protein product		605132	"""transducin-like enhancer of split 4, homolog of Drosophila E(sp1)"", ""transducin-like enhancer of split 4 (E(sp1) homolog, Drosophila)"""			8365415	Standard	XM_005252167		Approved	E(spI), ESG, GRG4	uc004alc.3	Q04727	OTTHUMG00000020072	ENST00000376552.2:c.2228C>T	9.37:g.82339965C>T	ENSP00000365735:p.Ser743Leu					TLE4_ENST00000376534.4_Missense_Mutation_p.S380L|TLE4_ENST00000376537.4_Missense_Mutation_p.S775L|TLE4_ENST00000376544.3_Missense_Mutation_p.S674L|TLE4_ENST00000376552.2_Missense_Mutation_p.S743L|TLE4_ENST00000265284.6_Missense_Mutation_p.S718L	p.S775L			O60756	BCE1_HUMAN			21	3152	+			0					F8W6T6|Q3ZCS1|Q5T1Y2|Q6PCB3|Q9BZ07|Q9BZ08|Q9BZ09|Q9NSL3|Q9ULF9	Missense_Mutation	SNP	ENST00000376552.2	37	c.2324C>T	CCDS43837.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.409241	0.83340	.	.	ENSG00000106829	ENST00000376552;ENST00000376544;ENST00000376520;ENST00000376537;ENST00000376534;ENST00000265284	T;T;T;T;T;T	0.62788	2.69;0.0;2.69;2.69;0.0;2.69	6.03	6.03	0.97812	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.060929	0.64402	D	0.000002	T	0.81941	0.4929	M	0.80847	2.515	0.80722	D	1	D;D;D;D	0.89917	1.0;0.999;1.0;1.0	D;D;D;D	0.97110	0.999;0.992;0.999;1.0	T	0.82621	-0.0367	10	0.87932	D	0	-13.1218	20.5568	0.99304	0.0:1.0:0.0:0.0	.	718;674;775;743	F8W6T6;Q04727-2;Q04727-3;Q04727	.;.;.;TLE4_HUMAN	L	743;674;775;775;380;718	ENSP00000365735:S743L;ENSP00000365727:S674L;ENSP00000365703:S775L;ENSP00000365720:S775L;ENSP00000365717:S380L;ENSP00000265284:S718L	ENSP00000265284:S718L	S	+	2	0	TLE4	81529785	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.757000	0.85209	2.861000	0.98227	0.655000	0.94253	TCA		0.368	TLE4-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052792.4	XM_212237		7	63	0	0	0	1	0	7	63				
TRMT13	54482	broad.mit.edu	37	1	100609646	100609646	+	Missense_Mutation	SNP	A	A	C			TCGA-J4-A67Q-01A-21D-A30E-08	TCGA-J4-A67Q-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	282f9df5-390b-4f67-a898-44746b337dc6	59ffc3d4-1659-40c8-89fe-d48475608509	g.chr1:100609646A>C	ENST00000370141.2	+	9	770	c.764A>C	c.(763-765)gAa>gCa	p.E255A	TRMT13_ENST00000493651.1_3'UTR	NM_019083.2	NP_061956.2	Q9NUP7	TRM13_HUMAN	tRNA methyltransferase 13 homolog (S. cerevisiae)	255					tRNA processing (GO:0008033)		metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)										GTGCTAAGAGAAGAAAAACTA	0.338																																						ENST00000370141.2																			0											c.(763-765)gAa>gCa		tRNA methyltransferase 13 homolog (S. cerevisiae)							94.0	91.0	92.0					1																	100609646		2203	4300	6503	SO:0001583	missense	54482							g.chr1:100609646A>C	BC075811	CCDS765.1	1p21.2	2012-06-07	2012-06-07	2012-06-07	ENSG00000122435	ENSG00000122435			25502	protein-coding gene	gene with protein product			"""coiled-coil domain containing 76"""	CCDC76		11799066	Standard	NM_019083		Approved	FLJ10287, FLJ11219	uc001dsv.3	Q9NUP7	OTTHUMG00000010841	ENST00000370141.2:c.764A>C	1.37:g.100609646A>C	ENSP00000359160:p.Glu255Ala					TRMT13_ENST00000493651.1_3'UTR	p.E255A	NM_019083.2	NP_061956.2					9	770	+								Q5VVL0|Q9NW65	Missense_Mutation	SNP	ENST00000370141.2	37	c.764A>C	CCDS765.1	.	.	.	.	.	.	.	.	.	.	A	12.71	2.019509	0.35606	.	.	ENSG00000122435	ENST00000370141	T	0.43688	0.94	5.77	4.64	0.57946	Methyltransferase TRM13 (1);	0.498441	0.24126	N	0.041310	T	0.13884	0.0336	L	0.31664	0.95	0.80722	D	1	B;B	0.22983	0.042;0.078	B;B	0.26969	0.055;0.075	T	0.05903	-1.0857	10	0.11485	T	0.65	-9.491	11.6928	0.51525	0.9311:0.0:0.0689:0.0	.	241;255	B4DQS9;Q9NUP7	.;TRM13_HUMAN	A	255	ENSP00000359160:E255A	ENSP00000359160:E255A	E	+	2	0	CCDC76	100382234	1.000000	0.71417	1.000000	0.80357	0.520000	0.34377	5.406000	0.66357	1.013000	0.39391	0.533000	0.62120	GAA		0.338	TRMT13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029919.1	NM_019083		3	36	0	0	0	1	0	3	36				
KIF11	3832	broad.mit.edu	37	10	94413536	94413536	+	Missense_Mutation	SNP	G	G	C			TCGA-J4-A67Q-01A-21D-A30E-08	TCGA-J4-A67Q-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	282f9df5-390b-4f67-a898-44746b337dc6	59ffc3d4-1659-40c8-89fe-d48475608509	g.chr10:94413536G>C	ENST00000260731.3	+	22	3244	c.3154G>C	c.(3154-3156)Gcc>Ccc	p.A1052P		NM_004523.3	NP_004514.2	P52732	KIF11_HUMAN	kinesin family member 11	1052					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|chromosome segregation (GO:0007059)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic centrosome separation (GO:0007100)|mitotic nuclear division (GO:0007067)|mitotic spindle organization (GO:0007052)|spindle assembly involved in mitosis (GO:0090307)|spindle organization (GO:0007051)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinesin complex (GO:0005871)|membrane (GO:0016020)|microtubule (GO:0005874)|spindle (GO:0005819)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)|protein complex binding (GO:0032403)|protein kinase binding (GO:0019901)			breast(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						ACCTCTGCGAGCCCAGATCAA	0.388																																					Colon(47;212 1003 2764 4062 8431)	ENST00000260731.3																			0				breast(1)|endometrium(5)|kidney(2)|large_intestine(9)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(3154-3156)Gcc>Ccc		kinesin family member 11							72.0	66.0	68.0					10																	94413536		2203	4300	6503	SO:0001583	missense	3832				blood coagulation|cell division|microtubule-based movement|spindle assembly involved in mitosis	chromatin remodeling complex|cytosol|kinesin complex|microtubule|spindle pole	ATP binding|microtubule motor activity|protein kinase binding	g.chr10:94413536G>C	X85137	CCDS7422.1	10q24.1	2008-03-03	2003-01-09	2003-01-10	ENSG00000138160	ENSG00000138160		"""Kinesins"""	6388	protein-coding gene	gene with protein product		148760	"""kinesin-like 1"""	KNSL1		1505978, 8548803	Standard	NM_004523		Approved	Eg5, HKSP, TRIP5	uc001kic.3	P52732	OTTHUMG00000018761	ENST00000260731.3:c.3154G>C	10.37:g.94413536G>C	ENSP00000260731:p.Ala1052Pro						p.A1052P	NM_004523.3	NP_004514.2	P52732	KIF11_HUMAN			22	3244	+			1052					A0AV49|B2RMV3|Q15716|Q5VWX0	Missense_Mutation	SNP	ENST00000260731.3	37	c.3154G>C	CCDS7422.1	.	.	.	.	.	.	.	.	.	.	G	11.84	1.759472	0.31137	.	.	ENSG00000138160	ENST00000260731	T	0.65732	-0.17	5.31	1.34	0.21922	.	0.657231	0.15768	N	0.245562	T	0.61565	0.2357	L	0.60455	1.87	0.21325	N	0.999723	P	0.46142	0.873	P	0.49192	0.602	T	0.51631	-0.8681	10	0.41790	T	0.15	.	7.8143	0.29249	0.3364:0.0:0.6636:0.0	.	1052	P52732	KIF11_HUMAN	P	1052	ENSP00000260731:A1052P	ENSP00000260731:A1052P	A	+	1	0	KIF11	94403516	0.992000	0.36948	0.961000	0.40146	0.038000	0.13279	0.673000	0.25203	0.168000	0.19655	-0.145000	0.13849	GCC		0.388	KIF11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049401.1	NM_004523		6	48	0	0	0	1	0	6	48				
KRTAP13-3	337960	broad.mit.edu	37	21	31798058	31798058	+	Missense_Mutation	SNP	T	T	C			TCGA-J4-A67Q-01A-21D-A30E-08	TCGA-J4-A67Q-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	282f9df5-390b-4f67-a898-44746b337dc6	59ffc3d4-1659-40c8-89fe-d48475608509	g.chr21:31798058T>C	ENST00000390690.2	-	1	228	c.173A>G	c.(172-174)gAg>gGg	p.E58G		NM_181622.1	NP_853653.1	Q3SY46	KR133_HUMAN	keratin associated protein 13-3	58	5 X 10 AA approximate repeats.					intermediate filament (GO:0005882)				endometrium(1)|large_intestine(1)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	14						CCAGCAGGTCTCCTGACAGCC	0.582																																						ENST00000390690.2																			0				endometrium(1)|large_intestine(1)|lung(10)|ovary(1)|upper_aerodigestive_tract(1)	14						c.(172-174)gAg>gGg		keratin associated protein 13-3							59.0	66.0	64.0					21																	31798058		2203	4300	6503	SO:0001583	missense	337960					intermediate filament		g.chr21:31798058T>C	AP001708	CCDS13591.1	21q22.1	2006-03-13			ENSG00000240432	ENSG00000240432		"""Keratin associated proteins"""	18925	protein-coding gene	gene with protein product						12359730	Standard	NM_181622		Approved	KAP13.3	uc002yob.1	Q3SY46	OTTHUMG00000057776	ENST00000390690.2:c.173A>G	21.37:g.31798058T>C	ENSP00000375109:p.Glu58Gly						p.E58G	NM_181622.1	NP_853653.1	Q3SY46	KR133_HUMAN			1	228	-			58			5 X 10 AA approximate repeats.		Q3LI78	Missense_Mutation	SNP	ENST00000390690.2	37	c.173A>G	CCDS13591.1	.	.	.	.	.	.	.	.	.	.	-	13.78	2.340256	0.41398	.	.	ENSG00000240432	ENST00000390690;ENST00000448917	T	0.07216	3.21	4.6	4.6	0.57074	.	0.168404	0.27016	U	0.021356	T	0.16896	0.0406	M	0.64170	1.965	0.23063	N	0.998354	P	0.47484	0.896	P	0.51550	0.673	T	0.03325	-1.1048	10	0.66056	D	0.02	-4.602	10.9299	0.47211	0.0:0.0:0.0:1.0	.	58	Q3SY46	KR133_HUMAN	G	58	ENSP00000375109:E58G	ENSP00000375109:E58G	E	-	2	0	KRTAP13-3	30719929	0.986000	0.35501	0.263000	0.24496	0.053000	0.15095	1.886000	0.39688	2.006000	0.58801	0.477000	0.44152	GAG		0.582	KRTAP13-3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128228.2			4	100	0	0	0	1	0	4	100				
WASH3P	374666	broad.mit.edu	37	15	102515335	102515335	+	RNA	SNP	C	C	G	rs201001946		TCGA-J4-A67Q-01A-21D-A30E-08	TCGA-J4-A67Q-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	282f9df5-390b-4f67-a898-44746b337dc6	59ffc3d4-1659-40c8-89fe-d48475608509	g.chr15:102515335C>G	ENST00000557932.1	+	0	1181				DDX11L9_ENST00000562189.1_RNA			C4AMC7	WASH3_HUMAN	WAS protein family homolog 3 pseudogene						Arp2/3 complex-mediated actin nucleation (GO:0034314)|endosomal transport (GO:0016197)|retrograde transport, endosome to Golgi (GO:0042147)	early endosome (GO:0005769)|filopodium (GO:0030175)|lamellipodium (GO:0030027)|membrane (GO:0016020)|recycling endosome (GO:0055037)|WASH complex (GO:0071203)	alpha-tubulin binding (GO:0043014)	p.L386V(3)		central_nervous_system(1)|endometrium(6)|kidney(11)|prostate(5)|stomach(1)|urinary_tract(1)	25						GGAGCGAAAGCTGGAGAAGAA	0.652																																						ENST00000557932.1																			3	Substitution - Missense(3)	p.L386V(3)	prostate(2)|kidney(1)	central_nervous_system(1)|endometrium(6)|kidney(11)|prostate(5)|stomach(1)|urinary_tract(1)	25																																														0							g.chr15:102515335C>G			15q26.3	2014-03-20	2008-01-16	2008-01-16	ENSG00000185596	ENSG00000185596		"""WAS protein homologs"""	24362	pseudogene	pseudogene			"""family with sequence similarity 39, member D pseudogene"""	FAM39DP		11701968, 18159949	Standard	NR_003659		Approved	FLJ25222	uc002cdi.3	C4AMC7	OTTHUMG00000172275		15.37:g.102515335C>G														0	1181	+									RNA	SNP	ENST00000557932.1	37			.	.	.	.	.	.	.	.	.	.	c	1.538	-0.542507	0.04053	.	.	ENSG00000185596	ENST00000338304;ENST00000398121	.	.	.	1.01	1.01	0.19927	.	0.125321	0.53938	D	0.000056	T	0.41926	0.1180	.	.	.	.	.	.	.	.	.	.	.	.	T	0.51044	-0.8755	4	.	.	.	-11.5249	7.9382	0.29941	0.0:1.0:0.0:0.0	.	.	.	.	V	395;386	.	.	L	+	1	2	WASH3P	100332858	1.000000	0.71417	0.999000	0.59377	0.392000	0.30506	1.146000	0.31589	0.863000	0.35553	0.184000	0.17185	CTG		0.652	WASH3P-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000417608.1	NM_199163		3	29	0	0	0	1	0	3	29				
RAB11FIP3	9727	broad.mit.edu	37	16	570797	570797	+	Silent	SNP	G	G	A			TCGA-J4-A67Q-01A-21D-A30E-08	TCGA-J4-A67Q-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	282f9df5-390b-4f67-a898-44746b337dc6	59ffc3d4-1659-40c8-89fe-d48475608509	g.chr16:570797G>A	ENST00000262305.4	+	14	2617	c.2229G>A	c.(2227-2229)gtG>gtA	p.V743V	RAB11FIP3_ENST00000457159.1_Silent_p.V788V|RAB11FIP3_ENST00000450428.1_Silent_p.V447V	NM_014700.3	NP_055515.1	O75154	RFIP3_HUMAN	RAB11 family interacting protein 3 (class II)	743	FIP-RBD. {ECO:0000255|PROSITE- ProRule:PRU00844}.				cytokinesis (GO:0000910)|endocytic recycling (GO:0032456)|vesicle-mediated transport (GO:0016192)	centrosome (GO:0005813)|cleavage furrow (GO:0032154)|endosome (GO:0005768)|intercellular bridge (GO:0045171)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|midbody (GO:0030496)|nucleus (GO:0005634)|recycling endosome (GO:0055037)	ADP-ribosylation factor binding (GO:0030306)|calcium ion binding (GO:0005509)|protein homodimerization activity (GO:0042803)|Rab GTPase binding (GO:0017137)			breast(1)|endometrium(2)|kidney(3)|lung(5)|upper_aerodigestive_tract(1)	12		Hepatocellular(16;0.0218)				GGATCATCGTGGCCATCATGG	0.577																																					Melanoma(160;2366 2595 4474 8099)	ENST00000262305.4																			0				breast(1)|endometrium(2)|kidney(3)|lung(5)|upper_aerodigestive_tract(1)	12						c.(2227-2229)gtG>gtA		RAB11 family interacting protein 3 (class II)							164.0	130.0	142.0					16																	570797		2201	4300	6501	SO:0001819	synonymous_variant	9727				cell cycle|cytokinesis|endocytic recycling|protein transport	centrosome|cleavage furrow|midbody|recycling endosome membrane	ADP-ribosylation factor binding|calcium ion binding|protein homodimerization activity|Rab GTPase binding	g.chr16:570797G>A	AB014565	CCDS32351.1, CCDS45364.1	16p13.3	2013-01-10			ENSG00000090565	ENSG00000090565		"""EF-hand domain containing"""	17224	protein-coding gene	gene with protein product		608738				9734811, 11481332	Standard	NM_014700		Approved	KIAA0665, Rab11-FIP3, eferin	uc002chf.3	O75154	OTTHUMG00000047843	ENST00000262305.4:c.2229G>A	16.37:g.570797G>A						RAB11FIP3_ENST00000457159.1_Silent_p.V788V|RAB11FIP3_ENST00000450428.1_Silent_p.V447V	p.V743V	NM_014700.3	NP_055515.1	O75154	RFIP3_HUMAN			14	2617	+		Hepatocellular(16;0.0218)	743			FIP-RBD.		B0QYI8|B0QYT8|B1AHQ0|B4DEI7|B4DZR6|Q4VXV7|Q7Z5E9|Q9H155|Q9H1G0|Q9NUI0	Silent	SNP	ENST00000262305.4	37	c.2229G>A	CCDS32351.1																																																																																				0.577	RAB11FIP3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000109066.4	NM_014700		21	61	0	0	0	1	0	21	61				
SLC24A5	283652	broad.mit.edu	37	15	48414122	48414122	+	Missense_Mutation	SNP	C	C	T			TCGA-J4-A67Q-01A-21D-A30E-08	TCGA-J4-A67Q-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	282f9df5-390b-4f67-a898-44746b337dc6	59ffc3d4-1659-40c8-89fe-d48475608509	g.chr15:48414122C>T	ENST00000341459.3	+	2	263	c.190C>T	c.(190-192)Cgc>Tgc	p.R64C	SLC24A5_ENST00000482911.2_Missense_Mutation_p.R64C|SLC24A5_ENST00000449382.2_Intron	NM_205850.2	NP_995322.1	Q71RS6	NCKX5_HUMAN	solute carrier family 24 (sodium/potassium/calcium exchanger), member 5	64					ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|negative regulation of melanin biosynthetic process (GO:0048022)|response to stimulus (GO:0050896)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	calcium, potassium:sodium antiporter activity (GO:0008273)|symporter activity (GO:0015293)	p.R64S(1)		cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(17)|skin(1)|upper_aerodigestive_tract(1)	27		all_lung(180;0.00217)		all cancers(107;3.29e-10)|GBM - Glioblastoma multiforme(94;7.32e-07)		GAGACAGGAGCGCAGAGATGG	0.413																																						ENST00000482911.2																			1	Substitution - Missense(1)	p.R64S(1)	lung(1)	cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(17)|skin(1)|upper_aerodigestive_tract(1)	27						c.(190-192)Cgc>Tgc		solute carrier family 24 (sodium/potassium/calcium exchanger), member 5							161.0	158.0	159.0					15																	48414122		2198	4297	6495	SO:0001583	missense	283652				response to stimulus	integral to membrane|melanosome|plasma membrane	calcium, potassium:sodium antiporter activity|symporter activity	g.chr15:48414122C>T	AF348468	CCDS10128.1	15q21.1	2014-01-28	2013-07-18		ENSG00000188467	ENSG00000188467		"""Solute carriers"""	20611	protein-coding gene	gene with protein product	"""oculocutaneous albinism 6 (autosomal recessive)"""	609802	"""solute carrier family 24, member 5"""			23364476	Standard	XM_005254308		Approved	JSX, OCA6	uc001zwe.3	Q71RS6	OTTHUMG00000131494	ENST00000341459.3:c.190C>T	15.37:g.48414122C>T	ENSP00000341550:p.Arg64Cys					SLC24A5_ENST00000341459.3_Missense_Mutation_p.R64C|SLC24A5_ENST00000449382.2_Intron	p.R64C			Q71RS6	NCKX5_HUMAN		all cancers(107;3.29e-10)|GBM - Glioblastoma multiforme(94;7.32e-07)	2	231	+		all_lung(180;0.00217)	64					A5X8Z8|A5X8Z9|Q14CT4|Q6DKH3	Missense_Mutation	SNP	ENST00000341459.3	37	c.190C>T	CCDS10128.1	.	.	.	.	.	.	.	.	.	.	C	17.53	3.411872	0.62511	.	.	ENSG00000188467	ENST00000341459	T	0.78481	-1.18	5.73	3.66	0.41972	.	0.097810	0.64402	D	0.000002	T	0.81044	0.4741	M	0.68952	2.095	0.23016	N	0.998422	D;D	0.76494	0.971;0.999	B;P	0.53689	0.333;0.732	T	0.73363	-0.4006	10	0.72032	D	0.01	.	10.4283	0.44391	0.4392:0.4468:0.114:0.0	.	64;64	Q71RS6;A5X8Z8	NCKX5_HUMAN;.	C	64	ENSP00000341550:R64C	ENSP00000341550:R64C	R	+	1	0	SLC24A5	46201414	0.993000	0.37304	0.098000	0.21074	0.914000	0.54420	0.918000	0.28678	0.685000	0.31468	0.655000	0.94253	CGC		0.413	SLC24A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254340.2	NM_205850		4	107	0	0	0	1	0	4	107				
SIM2	6493	broad.mit.edu	37	21	38114059	38114059	+	Silent	SNP	C	C	T			TCGA-J4-A67Q-01A-21D-A30E-08	TCGA-J4-A67Q-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	282f9df5-390b-4f67-a898-44746b337dc6	59ffc3d4-1659-40c8-89fe-d48475608509	g.chr21:38114059C>T	ENST00000290399.6	+	8	1505	c.892C>T	c.(892-894)Ctg>Ttg	p.L298L	SIM2_ENST00000430056.3_Silent_p.L298L	NM_005069.3	NP_005060.1	Q14190	SIM2_HUMAN	single-minded family bHLH transcription factor 2	298	PAC.				cell differentiation (GO:0030154)|embryonic pattern specification (GO:0009880)|lung development (GO:0030324)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(6)|prostate(1)|skin(2)	16						CTACCGGCTGCTGTCCAAGCG	0.627																																						ENST00000290399.6																			0				breast(1)|central_nervous_system(2)|kidney(2)|large_intestine(2)|lung(6)|prostate(1)|skin(2)	16						c.(892-894)Ctg>Ttg		single-minded family bHLH transcription factor 2							51.0	36.0	41.0					21																	38114059		2203	4300	6503	SO:0001819	synonymous_variant	6493				cell differentiation|nervous system development	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr21:38114059C>T		CCDS13646.1	21q22.2	2013-10-17	2013-10-17		ENSG00000159263	ENSG00000159263		"""Basic helix-loop-helix proteins"""	10883	protein-coding gene	gene with protein product	"""transcription factor SIM2"""	600892	"""single-minded (Drosophila) homolog 2"", ""single-minded homolog 2 (Drosophila)"""	SIM		7485157	Standard	NM_009586		Approved	MGC119447, bHLHe15	uc002yvr.2	Q14190	OTTHUMG00000086637	ENST00000290399.6:c.892C>T	21.37:g.38114059C>T						SIM2_ENST00000430056.3_Silent_p.L298L	p.L298L	NM_005069.3	NP_005060.1	Q14190	SIM2_HUMAN			8	1505	+			298			PAC.		O60766|Q15470|Q15471|Q15472|Q15473|Q16532|Q2TBD8	Silent	SNP	ENST00000290399.6	37	c.892C>T	CCDS13646.1	.	.	.	.	.	.	.	.	.	.	C	10.58	1.389776	0.25118	.	.	ENSG00000159263	ENST00000431229	.	.	.	5.25	4.35	0.52113	.	.	.	.	.	T	0.68851	0.3046	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.67673	-0.5610	4	.	.	.	.	14.0921	0.64998	0.0:0.9262:0.0:0.0738	.	.	.	.	V	235	.	.	A	+	2	0	SIM2	37035929	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.544000	0.45761	2.416000	0.81992	0.655000	0.94253	GCT		0.627	SIM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194692.1	NM_009586		3	25	0	0	0	1	0	3	25				
FRG1B	284802	broad.mit.edu	37	20	29628243	29628243	+	Missense_Mutation	SNP	T	T	C			TCGA-J4-A67Q-01A-21D-A30E-08	TCGA-J4-A67Q-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	282f9df5-390b-4f67-a898-44746b337dc6	59ffc3d4-1659-40c8-89fe-d48475608509	g.chr20:29628243T>C	ENST00000278882.3	+	6	625	c.245T>C	c.(244-246)tTg>tCg	p.L82S	FRG1B_ENST00000358464.4_Missense_Mutation_p.L82S|FRG1B_ENST00000439954.2_Missense_Mutation_p.L87S			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	82								p.L82S(2)		endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						ATGGCTTTGTTGGCCTCAAAT	0.363																																						ENST00000278882.3																			2	Substitution - Missense(2)	p.L82S(2)	urinary_tract(2)	endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(244-246)tTg>tCg																																						SO:0001583	missense	0							g.chr20:29628243T>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.245T>C	20.37:g.29628243T>C	ENSP00000278882:p.Leu82Ser					FRG1B_ENST00000439954.2_Missense_Mutation_p.L87S|FRG1B_ENST00000358464.4_Missense_Mutation_p.L82S	p.L82S							6	625	+								C4AME5	Missense_Mutation	SNP	ENST00000278882.3	37	c.245T>C		.	.	.	.	.	.	.	.	.	.	t	12.14	1.848999	0.32699	.	.	ENSG00000149531	ENST00000278882;ENST00000439954;ENST00000358464	T	0.49139	0.79	2.08	2.08	0.27032	Actin cross-linking (1);	0.147685	0.45361	D	0.000380	T	0.38665	0.1049	.	.	.	0.46185	D	0.99891	B;B	0.27656	0.03;0.184	B;B	0.35813	0.11;0.211	T	0.24548	-1.0157	9	0.38643	T	0.18	.	8.0833	0.30758	0.0:0.0:0.0:1.0	.	87;82	F5H5R5;Q9BZ01	.;FRG1B_HUMAN	S	82;87;82	ENSP00000408863:L87S	ENSP00000278882:L82S	L	+	2	0	FRG1B	28241904	1.000000	0.71417	0.998000	0.56505	0.541000	0.35023	6.955000	0.76007	1.208000	0.43306	0.347000	0.21830	TTG		0.363	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		5	185	0	0	0	1	0	5	185				
PHYKPL	85007	broad.mit.edu	37	5	177636394	177636394	+	Intron	SNP	C	C	T			TCGA-J4-A67Q-01A-21D-A30E-08	TCGA-J4-A67Q-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	282f9df5-390b-4f67-a898-44746b337dc6	59ffc3d4-1659-40c8-89fe-d48475608509	g.chr5:177636394C>T	ENST00000308158.5	-	13	1619				HNRNPAB_ENST00000506339.1_Missense_Mutation_p.R245C|HNRNPAB_ENST00000504898.1_Missense_Mutation_p.R245C|HNRNPAB_ENST00000506259.1_Missense_Mutation_p.R245C|HNRNPAB_ENST00000358344.3_Missense_Mutation_p.R245C|HNRNPAB_ENST00000514633.1_Missense_Mutation_p.R245C|HNRNPAB_ENST00000355836.5_Missense_Mutation_p.R245C|PHYKPL_ENST00000481811.1_Intron|HNRNPAB_ENST00000515193.1_Missense_Mutation_p.R245C	NM_153373.2	NP_699204.1	Q8IUZ5	AT2L2_HUMAN	5-phosphohydroxy-L-lysine phospho-lyase							mitochondrion (GO:0005739)	lyase activity (GO:0016829)|pyridoxal phosphate binding (GO:0030170)|transaminase activity (GO:0008483)									L-Alanine(DB00160)	CTCTGGGGGCCGTGGAAACCG	0.572																																						ENST00000358344.3																			0				large_intestine(4)|prostate(1)|urinary_tract(1)	6						c.(733-735)Cgt>Tgt		heterogeneous nuclear ribonucleoprotein A/B							86.0	79.0	81.0					5																	177636394		2203	4300	6503	SO:0001627	intron_variant	3182				epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|ribonucleoprotein complex	mRNA binding|nucleotide binding|protein binding	g.chr5:177636394C>T	BC037567	CCDS4434.1	5q35.3	2013-06-12	2013-06-12	2013-06-12	ENSG00000175309	ENSG00000175309	4.2.3.134		28249	protein-coding gene	gene with protein product	"""5-phosphonooxy-L-lysine phospho-lyase"""	614683	"""alanine-glyoxylate aminotransferase 2-like 2"""	AGXT2L2		22241472	Standard	NM_153373		Approved	MGC15875	uc003miz.3	Q8IUZ5	OTTHUMG00000130892	ENST00000308158.5:c.1351-478G>A	5.37:g.177636394C>T						HNRNPAB_ENST00000506339.1_Missense_Mutation_p.R245C|HNRNPAB_ENST00000515193.1_Missense_Mutation_p.R245C|PHYKPL_ENST00000481811.1_Intron|HNRNPAB_ENST00000504898.1_Missense_Mutation_p.R245C|HNRNPAB_ENST00000514633.1_Missense_Mutation_p.R245C|PHYKPL_ENST00000308158.5_Intron|HNRNPAB_ENST00000355836.5_Missense_Mutation_p.R245C|HNRNPAB_ENST00000506259.1_Missense_Mutation_p.R245C	p.R245C	NM_031266.2	NP_112556.2	Q99729	ROAA_HUMAN			6	990	+			245			Gly-rich.		A8K7P6|B3KN36|D3DWP9|Q8WYS6|Q96HW8	Missense_Mutation	SNP	ENST00000308158.5	37	c.733C>T	CCDS4434.1	.	.	.	.	.	.	.	.	.	.	C	9.579	1.122991	0.20959	.	.	ENSG00000197451	ENST00000358344;ENST00000506339;ENST00000355836;ENST00000514633;ENST00000515193;ENST00000506259;ENST00000504898	D;D;D;D;D;D;D	0.85773	-2.03;-2.03;-2.03;-2.03;-2.03;-2.03;-2.03	4.96	1.97	0.26223	.	0.459334	0.23189	N	0.050936	T	0.80144	0.4569	M	0.92459	3.31	0.80722	D	1	P;P;B	0.46277	0.803;0.875;0.01	B;B;B	0.22386	0.018;0.039;0.003	T	0.75557	-0.3276	10	0.39692	T	0.17	.	2.9852	0.05965	0.3125:0.4456:0.1523:0.0896	.	245;245;245	D6RD18;Q99729-3;Q99729-2	.;.;.	C	245	ENSP00000351108:R245C;ENSP00000422501:R245C;ENSP00000348093:R245C;ENSP00000427110:R245C;ENSP00000423495:R245C;ENSP00000427465:R245C;ENSP00000425031:R245C	ENSP00000348093:R245C	R	+	1	0	HNRNPAB	177569000	0.995000	0.38212	0.770000	0.31555	0.975000	0.68041	1.458000	0.35223	0.461000	0.27071	0.305000	0.20034	CGT		0.572	PHYKPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253477.1	NM_032921		9	89	0	0	0	1	0	9	89				
LMO3	55885	broad.mit.edu	37	12	16704208	16704208	+	Missense_Mutation	SNP	G	G	A	rs145877643		TCGA-J4-A67Q-01A-21D-A30E-08	TCGA-J4-A67Q-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	282f9df5-390b-4f67-a898-44746b337dc6	59ffc3d4-1659-40c8-89fe-d48475608509	g.chr12:16704208G>A	ENST00000320122.6	-	4	908	c.386C>T	c.(385-387)aCg>aTg	p.T129M	LMO3_ENST00000541295.1_Missense_Mutation_p.T147M|LMO3_ENST00000540445.1_Missense_Mutation_p.T151M|LMO3_ENST00000534946.1_Missense_Mutation_p.T129M|LMO3_ENST00000261169.6_Missense_Mutation_p.T140M|LMO3_ENST00000537304.1_Missense_Mutation_p.T129M|LMO3_ENST00000541846.1_Missense_Mutation_p.T129M|LMO3_ENST00000535535.1_Missense_Mutation_p.T129M|LMO3_ENST00000354662.1_Missense_Mutation_p.T129M|LMO3_ENST00000540848.1_Missense_Mutation_p.T129M|LMO3_ENST00000441439.2_Missense_Mutation_p.T129M|LMO3_ENST00000447609.1_Missense_Mutation_p.T129M	NM_001243611.1	NP_001230540.1	Q8TAP4	LMO3_HUMAN	LIM domain only 3 (rhombotin-like 2)	129	LIM zinc-binding 2. {ECO:0000255|PROSITE- ProRule:PRU00125}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)		zinc ion binding (GO:0008270)			endometrium(2)|large_intestine(2)|skin(1)	5		Hepatocellular(102;0.244)				CTCGTAGTCCGTCTGGCAAAG	0.348																																						ENST00000320122.6																			0				endometrium(2)|large_intestine(2)|skin(1)	5						c.(385-387)aCg>aTg		LIM domain only 3 (rhombotin-like 2)		G	MET/THR,MET/THR	0,4406		0,0,2203	159.0	148.0	152.0		386,386	5.2	1.0	12	dbSNP_134	152	2,8598	2.2+/-6.3	0,2,4298	no	missense,missense	LMO3	NM_001001395.2,NM_018640.4	81,81	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	benign,benign	129/146,129/146	16704208	2,13004	2203	4300	6503	SO:0001583	missense	55885				regulation of transcription, DNA-dependent|transcription, DNA-dependent		zinc ion binding	g.chr12:16704208G>A	BC026311	CCDS8678.1, CCDS58210.1, CCDS58211.1, CCDS58212.1	12p13	2004-05-19			ENSG00000048540	ENSG00000048540			6643	protein-coding gene	gene with protein product		180386		RBTNL2		11489251	Standard	NM_018640		Approved	Rhom-3, DAT1	uc010shy.2	Q8TAP4	OTTHUMG00000168837	ENST00000320122.6:c.386C>T	12.37:g.16704208G>A	ENSP00000312856:p.Thr129Met					LMO3_ENST00000354662.1_Missense_Mutation_p.T129M|LMO3_ENST00000534946.1_Missense_Mutation_p.T129M|LMO3_ENST00000535535.1_Missense_Mutation_p.T129M|LMO3_ENST00000541846.1_Missense_Mutation_p.T129M|LMO3_ENST00000447609.1_Missense_Mutation_p.T129M|LMO3_ENST00000541295.1_Missense_Mutation_p.T147M|LMO3_ENST00000540848.1_Missense_Mutation_p.T129M|LMO3_ENST00000261169.6_Missense_Mutation_p.T140M|LMO3_ENST00000540445.1_Missense_Mutation_p.T151M|LMO3_ENST00000441439.2_Missense_Mutation_p.T129M|LMO3_ENST00000537304.1_Missense_Mutation_p.T129M	p.T129M	NM_001243611.1	NP_001230540.1	Q8TAP4	LMO3_HUMAN			4	908	-		Hepatocellular(102;0.244)	129			LIM zinc-binding 2.		B4DG90|B4DH35|Q58A66|Q58A67|Q8N974|Q9UDD5	Missense_Mutation	SNP	ENST00000320122.6	37	c.386C>T	CCDS8678.1	.	.	.	.	.	.	.	.	.	.	G	11.02	1.516897	0.27123	0.0	2.33E-4	ENSG00000048540	ENST00000354662;ENST00000441439;ENST00000447609;ENST00000320122;ENST00000261169;ENST00000542544;ENST00000540848;ENST00000535535;ENST00000537304;ENST00000541295;ENST00000534946;ENST00000540445;ENST00000541846	D;D;D;D;D;D;D;D;D;D;D;D	0.87729	-2.29;-2.29;-2.29;-2.29;-2.29;-2.29;-2.29;-2.29;-2.29;-2.29;-2.29;-2.29	5.18	5.18	0.71444	Zinc finger, LIM-type (4);	0.055129	0.64402	D	0.000001	D	0.83510	0.5270	L	0.43554	1.36	0.58432	D	0.999999	B;B;B;B	0.30114	0.269;0.165;0.015;0.037	B;B;B;B	0.26094	0.066;0.046;0.028;0.046	T	0.80899	-0.1176	10	0.36615	T	0.2	.	19.0444	0.93013	0.0:0.0:1.0:0.0	.	151;147;129;140	B4DH35;B4DG90;Q8TAP4;Q58A67	.;.;LMO3_HUMAN;.	M	129;129;129;129;140;109;129;129;129;147;129;151;129	ENSP00000346689:T129M;ENSP00000412479:T129M;ENSP00000413703:T129M;ENSP00000312856:T129M;ENSP00000261169:T140M;ENSP00000445751:T129M;ENSP00000446115:T129M;ENSP00000440099:T129M;ENSP00000446463:T147M;ENSP00000439275:T129M;ENSP00000442786:T151M;ENSP00000444393:T129M	ENSP00000261169:T140M	T	-	2	0	LMO3	16595475	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.036000	0.93758	2.536000	0.85505	0.563000	0.77884	ACG		0.348	LMO3-014	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401279.1	NM_018640		5	74	0	0	0	1	0	5	74				
NFASC	23114	broad.mit.edu	37	1	204951036	204951036	+	Silent	SNP	C	C	T			TCGA-J4-A67Q-01A-21D-A30E-08	TCGA-J4-A67Q-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	282f9df5-390b-4f67-a898-44746b337dc6	59ffc3d4-1659-40c8-89fe-d48475608509	g.chr1:204951036C>T	ENST00000401399.1	+	20	2557	c.2358C>T	c.(2356-2358)taC>taT	p.Y786Y	NFASC_ENST00000360049.4_Silent_p.Y782Y|NFASC_ENST00000367169.4_Silent_p.Y786Y|NFASC_ENST00000367170.4_Silent_p.Y786Y|NFASC_ENST00000339876.6_Silent_p.Y786Y|NFASC_ENST00000404076.1_Silent_p.Y765Y|NFASC_ENST00000338586.6_Silent_p.Y786Y|NFASC_ENST00000367171.4_Silent_p.Y771Y|NFASC_ENST00000513543.1_Silent_p.Y782Y|NFASC_ENST00000367172.4_Silent_p.Y786Y|NFASC_ENST00000539706.1_Silent_p.Y782Y|NFASC_ENST00000338515.6_Silent_p.Y786Y|NFASC_ENST00000404907.1_Silent_p.Y782Y			O94856	NFASC_HUMAN	neurofascin	786	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				axon guidance (GO:0007411)|clustering of voltage-gated sodium channels (GO:0045162)|heterotypic cell-cell adhesion (GO:0034113)|myelination (GO:0042552)|paranodal junction assembly (GO:0030913)|peripheral nervous system development (GO:0007422)|protein localization to juxtaparanode region of axon (GO:0071205)|protein localization to paranode region of axon (GO:0002175)|synapse organization (GO:0050808)|transmission of nerve impulse (GO:0019226)	axon initial segment (GO:0043194)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|node of Ranvier (GO:0033268)|paranodal junction (GO:0033010)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)				NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	81	all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			GCTCTCGCTACGTGGTGGGGC	0.602																																						ENST00000367172.4																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	81						c.(2356-2358)taC>taT		neurofascin							89.0	73.0	79.0					1																	204951036		2203	4300	6503	SO:0001819	synonymous_variant	23114				axon guidance|cell adhesion|myelination|peripheral nervous system development	integral to membrane|node of Ranvier|plasma membrane	protein binding	g.chr1:204951036C>T	AK027553	CCDS30982.1, CCDS53460.1, CCDS53461.1, CCDS53462.1	1q32.1	2013-02-11	2010-06-24		ENSG00000163531	ENSG00000163531		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	29866	protein-coding gene	gene with protein product		609145	"""neurofascin homolog (chicken)"""			1377696, 8672144	Standard	NM_015090		Approved	NRCAML, KIAA0756, FLJ46866, NF	uc001hbj.3	O94856	OTTHUMG00000151697	ENST00000401399.1:c.2358C>T	1.37:g.204951036C>T						NFASC_ENST00000367171.4_Silent_p.Y771Y|NFASC_ENST00000338515.6_Silent_p.Y786Y|NFASC_ENST00000513543.1_Silent_p.Y782Y|NFASC_ENST00000367169.4_Silent_p.Y786Y|NFASC_ENST00000339876.6_Silent_p.Y786Y|NFASC_ENST00000539706.1_Silent_p.Y782Y|NFASC_ENST00000404076.1_Silent_p.Y765Y|NFASC_ENST00000360049.4_Silent_p.Y782Y|NFASC_ENST00000401399.1_Silent_p.Y786Y|NFASC_ENST00000338586.6_Silent_p.Y786Y|NFASC_ENST00000404907.1_Silent_p.Y782Y|NFASC_ENST00000367170.4_Silent_p.Y786Y	p.Y786Y			O94856	NFASC_HUMAN	KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)		21	2686	+	all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19)		786			Fibronectin type-III 2.		B2RNN8|B3KQZ1|B5MDP6|B5MDR6|B7ZMD8|Q149P5|Q5T2F0|Q5T2F1|Q5T2F2|Q5T2F3|Q5T2F4|Q5T2F5|Q5T2F6|Q5T2F7|Q5T2F9|Q5T2G0|Q5W9F8|Q68DH3|Q6ZQV6|Q7Z3K1|Q96HT1|Q96K50	Silent	SNP	ENST00000401399.1	37	c.2358C>T	CCDS53460.1	.	.	.	.	.	.	.	.	.	.	C	10.48	1.361415	0.24684	.	.	ENSG00000163531	ENST00000367173;ENST00000425360	.	.	.	5.55	-4.84	0.03151	.	.	.	.	.	T	0.62816	0.2459	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.63883	-0.6536	4	.	.	.	.	14.378	0.66892	0.0:0.4011:0.0:0.5989	.	.	.	.	M	756;18	.	.	T	+	2	0	NFASC	203217659	0.001000	0.12720	0.918000	0.36340	0.997000	0.91878	-1.323000	0.02692	-0.793000	0.04475	0.563000	0.77884	ACG		0.602	NFASC-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000131237.1	NM_001005388		12	50	0	0	0	1	0	12	50				
ANKRD30BP2	149992	broad.mit.edu	37	21	14414844	14414844	+	RNA	SNP	T	T	C	rs372981463		TCGA-J4-A67Q-01A-21D-A30E-08	TCGA-J4-A67Q-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	282f9df5-390b-4f67-a898-44746b337dc6	59ffc3d4-1659-40c8-89fe-d48475608509	g.chr21:14414844T>C	ENST00000507941.1	+	0	95									ankyrin repeat domain 30B pseudogene 2																		ACTGGGCCTGTGCCAATGGCC	0.433																																						ENST00000507941.1																			0																																																			0							g.chr21:14414844T>C	AF427490		21q11.2	2010-06-14	2010-06-14	2010-06-14	ENSG00000224309	ENSG00000224309			16620	pseudogene	pseudogene	"""cancer/testis antigen 85"""		"""chromosome 21 open reading frame 99"""	C21orf99		12036297, 17114284	Standard	NR_026916		Approved	CT85, CTSP-1	uc002yja.4		OTTHUMG00000074164		21.37:g.14414844T>C														0	95	+									RNA	SNP	ENST00000507941.1	37																																																																																						0.433	ANKRD30BP2-004	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000372094.1	NR_026916		4	54	0	0	0	1	0	4	54				
KRTAP10-1	386677	broad.mit.edu	37	21	45959752	45959752	+	Silent	SNP	G	G	A			TCGA-J4-A67Q-01A-21D-A30E-08	TCGA-J4-A67Q-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	282f9df5-390b-4f67-a898-44746b337dc6	59ffc3d4-1659-40c8-89fe-d48475608509	g.chr21:45959752G>A	ENST00000400375.1	-	1	326	c.282C>T	c.(280-282)ccC>ccT	p.P94P	TSPEAR_ENST00000397916.1_Intron|TSPEAR_ENST00000323084.4_Intron	NM_198691.2	NP_941964.2	P60331	KR101_HUMAN	keratin associated protein 10-1	94	24 X 5 AA repeats of C-C-X(3).					keratin filament (GO:0045095)				breast(1)|central_nervous_system(1)|endometrium(1)|lung(3)|prostate(4)|skin(1)	11						cctgctggcagggggaggagg	0.662																																						ENST00000400375.1																			0				breast(1)|central_nervous_system(1)|endometrium(1)|lung(3)|prostate(4)|skin(1)	11						c.(280-282)ccC>ccT		keratin associated protein 10-1							41.0	47.0	45.0					21																	45959752		2190	4281	6471	SO:0001819	synonymous_variant	386677					keratin filament		g.chr21:45959752G>A	AJ566380	CCDS42954.1	21q22.3	2007-10-05			ENSG00000215455	ENSG00000215455		"""Keratin associated proteins"""	22966	protein-coding gene	gene with protein product				KRTAP18-1			Standard	NM_198691		Approved	KAP10.1, KAP18.1	uc002zfh.1	P60331	OTTHUMG00000057627	ENST00000400375.1:c.282C>T	21.37:g.45959752G>A						TSPEAR_ENST00000323084.4_Intron|TSPEAR_ENST00000397916.1_Intron	p.P94P	NM_198691.2	NP_941964.2	P60331	KR101_HUMAN			1	326	-			94			24 X 5 AA repeats of C-C-X(3).		Q0VAR0|Q0VAR1	Silent	SNP	ENST00000400375.1	37	c.282C>T	CCDS42954.1																																																																																				0.662	KRTAP10-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128030.1			4	178	0	0	0	1	0	4	178				
CCDC88C	440193	broad.mit.edu	37	14	91791146	91791146	+	Missense_Mutation	SNP	G	G	A	rs368455174		TCGA-J4-A67Q-01A-21D-A30E-08	TCGA-J4-A67Q-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	282f9df5-390b-4f67-a898-44746b337dc6	59ffc3d4-1659-40c8-89fe-d48475608509	g.chr14:91791146G>A	ENST00000389857.6	-	12	1405	c.1319C>T	c.(1318-1320)tCc>tTc	p.S440F		NM_001080414.3	NP_001073883.2	Q9P219	DAPLE_HUMAN	coiled-coil domain containing 88C	440					protein destabilization (GO:0031648)|protein homooligomerization (GO:0051260)|regulation of protein phosphorylation (GO:0001932)|Wnt signaling pathway (GO:0016055)		PDZ domain binding (GO:0030165)|protein self-association (GO:0043621)			central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(6)|pancreas(1)|urinary_tract(1)	24		all_cancers(154;0.0468)				TGCGTTCTTGGACAGCTGCTC	0.612																																						ENST00000389857.6																			0				central_nervous_system(3)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(6)|pancreas(1)|urinary_tract(1)	24						c.(1318-1320)tCc>tTc		coiled-coil domain containing 88C							102.0	111.0	108.0					14																	91791146		2146	4255	6401	SO:0001583	missense	440193				microtubule cytoskeleton organization|protein destabilization|protein homooligomerization|regulation of protein phosphorylation|Wnt receptor signaling pathway	cytoplasm|insoluble fraction	microtubule binding|PDZ domain binding|protein self-association	g.chr14:91791146G>A		CCDS45151.1	14q32.12	2014-07-30	2007-05-31	2007-05-31		ENSG00000015133			19967	protein-coding gene	gene with protein product	"""Dvl-associating protein with a high frequency of leucine residues"", ""spinocerebellar ataxia 40"""	611204	"""KIAA1509"""	KIAA1509		17185515, 25062847	Standard	NM_001080414		Approved	DAPLE, HkRP2, SCA40	uc010aty.3	Q9P219		ENST00000389857.6:c.1319C>T	14.37:g.91791146G>A	ENSP00000374507:p.Ser440Phe						p.S440F	NM_001080414.3	NP_001073883.2	Q9P219	DAPLE_HUMAN			12	1405	-		all_cancers(154;0.0468)	440					Q69YK1|Q7L1M2|Q86SX7|Q8IYG8	Missense_Mutation	SNP	ENST00000389857.6	37	c.1319C>T	CCDS45151.1	.	.	.	.	.	.	.	.	.	.	G	26.7	4.759958	0.89932	.	.	ENSG00000015133	ENST00000389857	T	0.18338	2.22	5.76	5.76	0.90799	.	0.000000	0.48286	U	0.000188	T	0.45657	0.1353	M	0.76328	2.33	0.80722	D	1	D	0.69078	0.997	D	0.72982	0.979	T	0.36962	-0.9726	10	0.87932	D	0	-23.7719	19.9592	0.97233	0.0:0.0:1.0:0.0	.	440	Q9P219	DAPLE_HUMAN	F	440	ENSP00000374507:S440F	ENSP00000374507:S440F	S	-	2	0	CCDC88C	90860899	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.366000	0.73095	2.728000	0.93425	0.555000	0.69702	TCC		0.612	CCDC88C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411650.1	XM_029353		6	111	0	0	0	1	0	6	111				
TBL2	26608	broad.mit.edu	37	7	72988435	72988435	+	Silent	SNP	T	T	A			TCGA-J4-A67Q-01A-21D-A30E-08	TCGA-J4-A67Q-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	282f9df5-390b-4f67-a898-44746b337dc6	59ffc3d4-1659-40c8-89fe-d48475608509	g.chr7:72988435T>A	ENST00000305632.5	-	3	520	c.279A>T	c.(277-279)atA>atT	p.I93I	TBL2_ENST00000452475.1_Silent_p.I93I|TBL2_ENST00000432538.1_Silent_p.I57I|TBL2_ENST00000459913.1_5'UTR	NM_012453.2	NP_036585.1	Q9Y4P3	TBL2_HUMAN	transducin (beta)-like 2	93							poly(A) RNA binding (GO:0044822)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	19		Lung NSC(55;0.0659)|all_lung(88;0.152)				CCATGCAAGATATGTTCCCGC	0.582																																						ENST00000305632.5																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	19						c.(277-279)atA>atT		transducin (beta)-like 2							135.0	112.0	120.0					7																	72988435		2203	4300	6503	SO:0001819	synonymous_variant	26608							g.chr7:72988435T>A	AF056183	CCDS5551.1	7q11.23	2013-01-10			ENSG00000106638	ENSG00000106638		"""WD repeat domain containing"""	11586	protein-coding gene	gene with protein product	"""Williams-Beuren syndrome chromosome region 13"""	605842				9860302, 10575226	Standard	XM_006715923		Approved	WS-betaTRP, WBSCR13, DKFZP43N024	uc003tyh.3	Q9Y4P3	OTTHUMG00000023427	ENST00000305632.5:c.279A>T	7.37:g.72988435T>A						TBL2_ENST00000432538.1_Silent_p.I57I|TBL2_ENST00000459913.1_5'UTR|TBL2_ENST00000452475.1_Silent_p.I93I	p.I93I	NM_012453.2	NP_036585.1	Q9Y4P3	TBL2_HUMAN			3	520	-		Lung NSC(55;0.0659)|all_lung(88;0.152)	93					Q9UQE2	Silent	SNP	ENST00000305632.5	37	c.279A>T	CCDS5551.1																																																																																				0.582	TBL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252233.3	NM_012453		11	56	0	0	0	1	0	11	56				
C10orf12	26148	broad.mit.edu	37	10	98741523	98741523	+	Missense_Mutation	SNP	G	G	A			TCGA-J4-A67Q-01A-21D-A30E-08	TCGA-J4-A67Q-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	282f9df5-390b-4f67-a898-44746b337dc6	59ffc3d4-1659-40c8-89fe-d48475608509	g.chr10:98741523G>A	ENST00000286067.2	+	1	483	c.376G>A	c.(376-378)Gca>Aca	p.A126T		NM_015652.2	NP_056467.2	Q8N655	CJ012_HUMAN	chromosome 10 open reading frame 12	126										NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(3)|prostate(2)|skin(2)|stomach(4)	45		Colorectal(252;0.172)		Epithelial(162;6.35e-09)|all cancers(201;3.21e-07)		ACACAAAGCGGCAAATGGACA	0.458																																						ENST00000286067.2																			0				NS(1)|breast(2)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(3)|prostate(2)|skin(2)|stomach(4)	45						c.(376-378)Gca>Aca		chromosome 10 open reading frame 12							91.0	94.0	93.0					10																	98741523		2203	4300	6503	SO:0001583	missense	26148							g.chr10:98741523G>A	BC024315	CCDS7452.1	10q24.2	2014-03-11			ENSG00000155640	ENSG00000155640			23420	protein-coding gene	gene with protein product						24550272	Standard	NM_015652		Approved	DKFZP564P1916, FLJ13022	uc001kmv.3	Q8N655	OTTHUMG00000018840	ENST00000286067.2:c.376G>A	10.37:g.98741523G>A	ENSP00000286067:p.Ala126Thr						p.A126T	NM_015652.2	NP_056467.2	Q8N655	CJ012_HUMAN		Epithelial(162;6.35e-09)|all cancers(201;3.21e-07)	1	483	+		Colorectal(252;0.172)	126					Q9H945|Q9Y457	Missense_Mutation	SNP	ENST00000286067.2	37	c.376G>A	CCDS7452.1	.	.	.	.	.	.	.	.	.	.	G	5.780	0.328259	0.10956	.	.	ENSG00000155640	ENST00000286067	T	0.06687	3.27	5.95	3.64	0.41730	.	0.413567	0.20454	N	0.092022	T	0.03564	0.0102	N	0.08118	0	0.27491	N	0.952274	B	0.15141	0.012	B	0.13407	0.009	T	0.36237	-0.9756	10	0.38643	T	0.18	-6.4832	1.3673	0.02204	0.1398:0.162:0.1585:0.5397	.	126	Q8N655	CJ012_HUMAN	T	126	ENSP00000286067:A126T	ENSP00000286067:A126T	A	+	1	0	C10orf12	98731513	0.999000	0.42202	0.995000	0.50966	0.007000	0.05969	0.475000	0.22164	0.518000	0.28383	-0.262000	0.10625	GCA		0.458	C10orf12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049627.1	NM_015652		4	77	0	0	0	1	0	4	77				
HELB	92797	broad.mit.edu	37	12	66703846	66703846	+	Missense_Mutation	SNP	G	G	A			TCGA-J4-A67Q-01A-21D-A30E-08	TCGA-J4-A67Q-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	282f9df5-390b-4f67-a898-44746b337dc6	59ffc3d4-1659-40c8-89fe-d48475608509	g.chr12:66703846G>A	ENST00000247815.4	+	4	1197	c.1138G>A	c.(1138-1140)Gtc>Atc	p.V380I		NM_033647.3	NP_387467.2	Q8NG08	HELB_HUMAN	helicase (DNA) B	380					DNA duplex unwinding (GO:0032508)|DNA replication (GO:0006260)|DNA replication, synthesis of RNA primer (GO:0006269)		ATP binding (GO:0005524)|ATP-dependent 5'-3' DNA helicase activity (GO:0043141)|single-stranded DNA-dependent ATP-dependent DNA helicase activity (GO:0017116)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	40			GBM - Glioblastoma multiforme(2;0.000142)	GBM - Glioblastoma multiforme(28;0.0265)		GCATTTATGTGTCGATGTCGA	0.423																																						ENST00000247815.4																			0				autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(15)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)	40						c.(1138-1140)Gtc>Atc		helicase (DNA) B							198.0	194.0	195.0					12																	66703846		2203	4300	6503	SO:0001583	missense	92797				DNA replication, synthesis of RNA primer		ATP binding|ATP-dependent 5'-3' DNA helicase activity|single-stranded DNA-dependent ATP-dependent DNA helicase activity	g.chr12:66703846G>A	AF319995	CCDS8976.1	12q14.2	2009-01-15			ENSG00000127311	ENSG00000127311			17196	protein-coding gene	gene with protein product		614539				12181327	Standard	NM_033647		Approved		uc001sti.3	Q8NG08	OTTHUMG00000169006	ENST00000247815.4:c.1138G>A	12.37:g.66703846G>A	ENSP00000247815:p.Val380Ile						p.V380I	NM_033647.3	NP_387467.2	Q8NG08	HELB_HUMAN	GBM - Glioblastoma multiforme(2;0.000142)	GBM - Glioblastoma multiforme(28;0.0265)	4	1197	+			380					A8K4C9|Q4G0T2|Q9H7L5	Missense_Mutation	SNP	ENST00000247815.4	37	c.1138G>A	CCDS8976.1	.	.	.	.	.	.	.	.	.	.	G	18.55	3.647854	0.67358	.	.	ENSG00000127311	ENST00000247815	T	0.54279	0.58	6.17	5.28	0.74379	.	0.135991	0.49916	D	0.000133	T	0.57577	0.2063	M	0.68952	2.095	0.21762	N	0.999559	D	0.56521	0.976	P	0.49922	0.626	T	0.57412	-0.7816	9	.	.	.	-23.5297	10.7191	0.46030	0.0663:0.0:0.8043:0.1294	.	380	Q8NG08	HELB_HUMAN	I	380	ENSP00000247815:V380I	.	V	+	1	0	HELB	64990113	0.999000	0.42202	0.361000	0.25849	0.006000	0.05464	3.922000	0.56462	2.941000	0.99782	0.655000	0.94253	GTC		0.423	HELB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401919.1			55	165	0	0	0	1	0	55	165				
CRIP3	401262	broad.mit.edu	37	6	43275384	43275384	+	Silent	SNP	G	G	C	rs536850980		TCGA-J4-A67Q-01A-21D-A30E-08	TCGA-J4-A67Q-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	282f9df5-390b-4f67-a898-44746b337dc6	59ffc3d4-1659-40c8-89fe-d48475608509	g.chr6:43275384G>C	ENST00000274990.4	-	4	298	c.294C>G	c.(292-294)ccC>ccG	p.P98P	ZNF318_ENST00000607252.1_5'UTR|CRIP3_ENST00000372569.3_Silent_p.P98P			Q6Q6R5	CRIP3_HUMAN	cysteine-rich protein 3	98					T cell proliferation (GO:0042098)	cytoplasm (GO:0005737)	zinc ion binding (GO:0008270)			endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10			Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00998)|OV - Ovarian serous cystadenocarcinoma(102;0.0305)			TCCTTGGCCTGGGAGGGCTGA	0.632																																						ENST00000372569.3																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	10						c.(292-294)ccC>ccG		cysteine-rich protein 3							46.0	51.0	49.0					6																	43275384		2203	4300	6503	SO:0001819	synonymous_variant	401262					cytoplasm	zinc ion binding	g.chr6:43275384G>C	AY555741	CCDS4894.2	6p21	2008-02-05			ENSG00000146215	ENSG00000146215			17751	protein-coding gene	gene with protein product						15380775	Standard	NM_206922		Approved	TLP-A, bA480N24.2, TLP	uc003ouu.1	Q6Q6R5	OTTHUMG00000014727	ENST00000274990.4:c.294C>G	6.37:g.43275384G>C						ZNF318_ENST00000607252.1_5'UTR|CRIP3_ENST00000274990.4_Silent_p.P98P	p.P98P	NM_206922.2	NP_996805.2	Q6Q6R5	CRIP3_HUMAN	Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.00998)|OV - Ovarian serous cystadenocarcinoma(102;0.0305)		4	298	-			98					A2A436|Q5T043|Q6Q6R4|Q6Q6R6|Q6Q6R7	Silent	SNP	ENST00000274990.4	37	c.294C>G		.	.	.	.	.	.	.	.	.	.	G	9.568	1.120372	0.20877	.	.	ENSG00000146215	ENST00000416431	.	.	.	5.28	-2.53	0.06326	.	.	.	.	.	T	0.21427	0.0516	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.34204	-0.9838	4	.	.	.	-35.1792	1.0579	0.01594	0.2812:0.1128:0.3755:0.2305	.	.	.	.	E	46	.	.	Q	-	1	0	CRIP3	43383362	0.983000	0.35010	0.969000	0.41365	0.998000	0.95712	0.181000	0.16880	-0.497000	0.06641	0.655000	0.94253	CAG		0.632	CRIP3-004	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000313968.1			13	68	0	0	0	1	0	13	68				
LMOD2	442721	broad.mit.edu	37	7	123301995	123301997	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-J4-A67Q-01A-21D-A30E-08	TCGA-J4-A67Q-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	282f9df5-390b-4f67-a898-44746b337dc6	59ffc3d4-1659-40c8-89fe-d48475608509	g.chr7:123301995_123301997delGAG	ENST00000458573.2	+	2	512_514	c.355_357delGAG	c.(355-357)gagdel	p.E124del	LMOD2_ENST00000456238.2_Intron	NM_207163.1	NP_997046.1	Q6P5Q4	LMOD2_HUMAN	leiomodin 2 (cardiac)	124	Glu-rich.					cytoskeleton (GO:0005856)											AGTGTATACAgaggaggaggagg	0.409																																						ENST00000458573.2																			0											c.(355-357)del		leiomodin 2 (cardiac)				66,3558		3,60,1749						-9.4	0.0			37	117,7687		5,107,3790	no	coding	LMOD2	NM_207163.1		8,167,5539	A1A1,A1R,RR		1.4992,1.8212,1.6013				183,11245				SO:0001651	inframe_deletion	442721					cytoskeleton	actin binding|tropomyosin binding	g.chr7:123301995_123301997delGAG	AC006333	CCDS47693.1	7q31.32	2008-08-08			ENSG00000170807	ENSG00000170807			6648	protein-coding gene	gene with protein product		608006					Standard	NM_207163		Approved		uc003vky.2	Q6P5Q4	OTTHUMG00000157149	ENST00000458573.2:c.355_357delGAG	7.37:g.123302004_123302006delGAG	ENSP00000411932:p.Glu124del					LMOD2_ENST00000456238.2_Intron	p.E124del	NM_207163.1	NP_997046.1	Q6P5Q4	LMOD2_HUMAN			2	512_514	+			124			Glu-rich.		A4D0W9|A4D0Y2|Q8WVJ8	In_Frame_Del	DEL	ENST00000458573.2	37	c.355_357delGAG	CCDS47693.1																																																																																				0.409	LMOD2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348525.1			3	5						3	5	---	---	---	---
KLHL9	55958	broad.mit.edu	37	9	21334407	21334408	+	Frame_Shift_Del	DEL	AA	AA	-			TCGA-J4-A67Q-01A-21D-A30E-08	TCGA-J4-A67Q-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	282f9df5-390b-4f67-a898-44746b337dc6	59ffc3d4-1659-40c8-89fe-d48475608509	g.chr9:21334407_21334408delAA	ENST00000359039.4	-	1	971_972	c.451_452delTT	c.(451-453)ttgfs	p.L151fs	KLHL9_ENST00000537938.1_Frame_Shift_Del_p.L83fs			Q9P2J3	KLHL9_HUMAN	kelch-like family member 9	151					cytokinesis (GO:0000910)|mitotic nuclear division (GO:0007067)|protein ubiquitination (GO:0016567)	Cul3-RING ubiquitin ligase complex (GO:0031463)|midbody (GO:0030496)				endometrium(9)|large_intestine(7)|lung(10)|ovary(4)|skin(2)	32				Lung(24;8.52e-27)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.118)		ACAGTTATCCAAAGAGACTCCT	0.337																																						ENST00000359039.4																			0				endometrium(9)|large_intestine(7)|lung(10)|ovary(4)|skin(2)	32						c.(451-453)gfs		kelch-like family member 9																																				SO:0001589	frameshift_variant	55958				cytokinesis|mitosis|protein ubiquitination	Cul3-RING ubiquitin ligase complex|midbody		g.chr9:21334407_21334408delAA	AB037775	CCDS6503.1	9p22	2013-01-30	2013-01-30		ENSG00000198642	ENSG00000198642		"""Kelch-like"", ""BTB/POZ domain containing"""	18732	protein-coding gene	gene with protein product		611201	"""kelch-like 9 (Drosophila)"""				Standard	NM_018847		Approved	KIAA1354, FLJ13568	uc003zoy.3	Q9P2J3	OTTHUMG00000019669	ENST00000359039.4:c.451_452delTT	9.37:g.21334407_21334408delAA	ENSP00000351933:p.Leu151fs					KLHL9_ENST00000537938.1_Frame_Shift_Del_p.L83fs	p.L151fs			Q9P2J3	KLHL9_HUMAN		Lung(24;8.52e-27)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)|OV - Ovarian serous cystadenocarcinoma(39;0.118)	1	971_972	-			151					Q8TCQ2	Frame_Shift_Del	DEL	ENST00000359039.4	37	c.451_452delTT	CCDS6503.1																																																																																				0.337	KLHL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051898.2	NM_018847		9	44						9	44	---	---	---	---
KIAA1462	57608	broad.mit.edu	37	10	30316501	30316503	+	In_Frame_Del	DEL	CTG	CTG	-			TCGA-J4-A67Q-01A-21D-A30E-08	TCGA-J4-A67Q-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	282f9df5-390b-4f67-a898-44746b337dc6	59ffc3d4-1659-40c8-89fe-d48475608509	g.chr10:30316501_30316503delCTG	ENST00000375377.1	-	3	2675_2677	c.2574_2576delCAG	c.(2572-2577)agcagt>agt	p.858_859SS>S		NM_020848.2	NP_065899.1	Q9P266	JCAD_HUMAN	KIAA1462	858	Ser-rich.				cell adhesion (GO:0007155)	cell-cell junction (GO:0005911)				breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	75						ACTCTCCTCActgctgctgctgc	0.571																																						ENST00000375377.1																			0				breast(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|lung(23)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	75						c.(2572-2577)agt>ag		KIAA1462				16,121,147,3686		2,1,1,10,9,1,101,3,139,1718						-7.0	0.0			46	4,50,242,7744		0,0,1,3,0,0,50,8,225,3733	no	codingComplex	KIAA1462	NM_020848.2		2,1,2,13,9,1,151,11,364,5451	A1A1,A1A2,A1A3,A1R,A2A2,A2A3,A2R,A3A3,A3R,RR		3.6816,7.1537,4.8293				20,171,389,11430				SO:0001651	inframe_deletion	57608							g.chr10:30316501_30316503delCTG	AB040895	CCDS41500.1	10p12.1	2013-04-23			ENSG00000165757	ENSG00000165757			29283	protein-coding gene	gene with protein product	"""junctional protein associated with coronary artery disease"""	614398				10819331, 21884682	Standard	NM_020848		Approved	JCAD	uc001iux.3	Q9P266	OTTHUMG00000017885	ENST00000375377.1:c.2574_2576delCAG	10.37:g.30316510_30316512delCTG	ENSP00000364526:p.Ser859del						p.SS858del	NM_020848.2	NP_065899.1	Q9P266	K1462_HUMAN			3	2675_2677	-			858			Ser-rich.		Q5HYA7|Q5T992|Q86WZ9|Q9BYJ2	In_Frame_Del	DEL	ENST00000375377.1	37	c.2574_2576delCAG	CCDS41500.1																																																																																				0.571	KIAA1462-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047409.1	NM_020848		8	109						8	109	---	---	---	---
TPTE2P6	374491	broad.mit.edu	37	13	25157747	25157748	+	RNA	INS	-	-	T	rs74332804		TCGA-J4-A67Q-01A-21D-A30E-08	TCGA-J4-A67Q-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	282f9df5-390b-4f67-a898-44746b337dc6	59ffc3d4-1659-40c8-89fe-d48475608509	g.chr13:25157747_25157748insT	ENST00000453498.1	+	0	554				TPTE2P6_ENST00000440905.1_RNA																							AAAATGGGAGGTTTTTTTAGGG	0.411																																						ENST00000453498.1																			0																																																			0							g.chr13:25157747_25157748insT																													13.37:g.25157754_25157754dupT														0	554	+									RNA	INS	ENST00000453498.1	37																																																																																						0.411	RP11-556N21.1-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000044193.1			5	7						5	7	---	---	---	---
HERC2P2	400322	broad.mit.edu	37	15	23285254	23285268	+	RNA	DEL	TCCCTTCCCTTCCCT	TCCCTTCCCTTCCCT	-	rs371652666|rs376132915	byFrequency	TCGA-J4-A67Q-01A-21D-A30E-08	TCGA-J4-A67Q-10A-01D-A30H-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	282f9df5-390b-4f67-a898-44746b337dc6	59ffc3d4-1659-40c8-89fe-d48475608509	g.chr15:23285254_23285268delTCCCTTCCCTTCCCT	ENST00000560464.1	-	0	5097									hect domain and RLD 2 pseudogene 2																		CTTTCTTCTCtcccttcccttcccttcccttccct	0.474														1063	0.21226	0.5855	0.085	5008	,	,		15735	0.0853		0.0666	False		,,,				2504	0.0787					ENST00000560464.1																			0																																																			0							g.chr15:23285254_23285268delTCCCTTCCCTTCCCT	AF041080		15q11.2	2014-03-18			ENSG00000140181				4870	pseudogene	pseudogene						9730612	Standard	NR_002824		Approved	D15F37S3	uc001yvq.2		OTTHUMG00000171926		15.37:g.23285254_23285268delTCCCTTCCCTTCCCT														0	5097	-									RNA	DEL	ENST00000560464.1	37																																																																																						0.474	HERC2P2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000415936.1			7	3						7	3	---	---	---	---
