#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
KRTAP10-10	353333	broad.mit.edu	37	21	46057497	46057497	+	Missense_Mutation	SNP	A	A	G	rs377408	byFrequency	TCGA-HT-A61C-01A-11D-A29Q-08	TCGA-HT-A61C-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afbb1eaf-692a-4f24-8d59-049b4f6c59dc	03f58553-7605-4ed2-ace0-6ce09e76087d	g.chr21:46057497A>G	ENST00000380095.1	+	1	225	c.163A>G	c.(163-165)Acg>Gcg	p.T55A	TSPEAR_ENST00000323084.4_Intron	NM_181688.1	NP_859016.1	P60014	KR10A_HUMAN	keratin associated protein 10-10	55	15 X 5 AA repeats of C-C-X(3).					keratin filament (GO:0045095)		p.T55A(1)		NS(1)|endometrium(2)|kidney(1)|lung(6)|prostate(1)|skin(2)	13						CTGCTGCCAGACGGCCTGTGA	0.662													a|||	2	0.000399361	0.0	0.0	5008	,	,		18516	0.0		0.001	False		,,,				2504	0.001					ENST00000380095.1																			1	Substitution - Missense(1)	p.T55A(1)	lung(1)	NS(1)|endometrium(2)|kidney(1)|lung(6)|prostate(1)|skin(2)	13						c.(163-165)Acg>Gcg		keratin associated protein 10-10							56.0	62.0	60.0					21																	46057497		2203	4300	6503	SO:0001583	missense	353333					keratin filament		g.chr21:46057497A>G	AJ566387	CCDS33585.1	21q22.3	2006-03-13			ENSG00000221859	ENSG00000221859		"""Keratin associated proteins"""	22972	protein-coding gene	gene with protein product							Standard	NM_181688		Approved	KAP10.10, KAP18.10, KRTAP18-10	uc002zfq.3	P60014	OTTHUMG00000057631	ENST00000380095.1:c.163A>G	21.37:g.46057497A>G	ENSP00000369438:p.Thr55Ala					TSPEAR_ENST00000323084.4_Intron	p.T55A	NM_181688.1	NP_859016.1	P60014	KR10A_HUMAN			1	225	+			55			15 X 5 AA repeats of C-C-X(3).			Missense_Mutation	SNP	ENST00000380095.1	37	c.163A>G	CCDS33585.1	2	9.157509157509158E-4	0	0.0	0	0.0	0	0.0	2	0.002638522427440633	g	0.001	-3.777528	0.00004	.	.	ENSG00000221859	ENST00000380095	T	0.00976	5.48	1.05	-1.25	0.09405	.	.	.	.	.	T	0.00356	0.0011	N	0.01048	-1.04	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.42849	-0.9427	9	0.02654	T	1	.	3.9159	0.09222	0.1957:0.4879:0.3163:0.0	rs377408	55	P60014	KR10A_HUMAN	A	55	ENSP00000369438:T55A	ENSP00000369438:T55A	T	+	1	0	KRTAP10-10	44881925	0.000000	0.05858	0.062000	0.19696	0.039000	0.13416	0.043000	0.13971	-0.506000	0.06558	-0.741000	0.03529	ACG		0.662	KRTAP10-10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128034.1	NM_181688		5	210	0	0	0	1	0	5	210				
SPRED2	200734	broad.mit.edu	37	2	65541089	65541089	+	Missense_Mutation	SNP	T	T	G			TCGA-HT-A61C-01A-11D-A29Q-08	TCGA-HT-A61C-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afbb1eaf-692a-4f24-8d59-049b4f6c59dc	03f58553-7605-4ed2-ace0-6ce09e76087d	g.chr2:65541089T>G	ENST00000356388.4	-	6	992	c.803A>C	c.(802-804)tAc>tCc	p.Y268S	SPRED2_ENST00000443619.2_Missense_Mutation_p.Y265S|SPRED2_ENST00000474228.1_5'Flank	NM_181784.2	NP_861449.2	Q7Z698	SPRE2_HUMAN	sprouty-related, EVH1 domain containing 2	268					inactivation of MAPK activity (GO:0000188)|multicellular organismal development (GO:0007275)|negative regulation of peptidyl-threonine phosphorylation (GO:0010801)|positive regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043517)|regulation of protein deacetylation (GO:0090311)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)|protein serine/threonine kinase inhibitor activity (GO:0030291)|stem cell factor receptor binding (GO:0005173)			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(7)|ovary(2)|upper_aerodigestive_tract(3)	34						GGAGTCCACGTAGGGGTAGTT	0.677																																						ENST00000356388.4																			0				breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(11)|lung(7)|ovary(2)|upper_aerodigestive_tract(3)	34						c.(802-804)tAc>tCc		sprouty-related, EVH1 domain containing 2							60.0	58.0	59.0					2																	65541089		2203	4300	6503	SO:0001583	missense	200734				inactivation of MAPK activity|multicellular organismal development	transport vesicle membrane	stem cell factor receptor binding	g.chr2:65541089T>G	AF052178	CCDS33211.1, CCDS46308.1	2p14	2003-06-02			ENSG00000198369	ENSG00000198369			17722	protein-coding gene	gene with protein product		609292					Standard	NM_181784		Approved	Spred-2, FLJ21897, FLJ31917	uc002sdr.4	Q7Z698	OTTHUMG00000152737	ENST00000356388.4:c.803A>C	2.37:g.65541089T>G	ENSP00000348753:p.Tyr268Ser					SPRED2_ENST00000443619.2_Missense_Mutation_p.Y265S	p.Y268S	NM_181784.2	NP_861449.2	Q7Z698	SPRE2_HUMAN			6	992	-			268					A1L3V4|B7Z5K7|D6W5F7|E9PEP0|Q2NKX6	Missense_Mutation	SNP	ENST00000356388.4	37	c.803A>C	CCDS33211.1	.	.	.	.	.	.	.	.	.	.	T	15.10	2.733503	0.48939	.	.	ENSG00000198369	ENST00000356388;ENST00000443619;ENST00000452315;ENST00000421087	T;T;T;T	0.76316	-1.0;-1.0;-1.01;-0.02	5.75	4.59	0.56863	.	0.178462	0.51477	D	0.000094	T	0.81153	0.4763	M	0.75447	2.3	0.58432	D	0.999999	B;D	0.57899	0.035;0.981	B;P	0.51701	0.017;0.677	T	0.78285	-0.2263	10	0.22109	T	0.4	-30.4117	12.2608	0.54649	0.1274:0.0:0.0:0.8726	.	265;268	E9PEP0;Q7Z698	.;SPRE2_HUMAN	S	268;265;283;150	ENSP00000348753:Y268S;ENSP00000393697:Y265S;ENSP00000390595:Y283S;ENSP00000407627:Y150S	ENSP00000348753:Y268S	Y	-	2	0	SPRED2	65394593	1.000000	0.71417	0.998000	0.56505	0.993000	0.82548	4.332000	0.59279	0.989000	0.38761	0.533000	0.62120	TAC		0.677	SPRED2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000327632.1			55	96	0	0	0	1	0	55	96				
TTN	7273	broad.mit.edu	37	2	179468882	179468882	+	Missense_Mutation	SNP	G	G	A	rs554701601	byFrequency	TCGA-HT-A61C-01A-11D-A29Q-08	TCGA-HT-A61C-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afbb1eaf-692a-4f24-8d59-049b4f6c59dc	03f58553-7605-4ed2-ace0-6ce09e76087d	g.chr2:179468882G>A	ENST00000591111.1	-	232	49833	c.49609C>T	c.(49609-49611)Cgc>Tgc	p.R16537C	TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R9305C|TTN_ENST00000342992.6_Missense_Mutation_p.R15610C|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.R9238C|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.R18178C|TTN_ENST00000460472.2_Missense_Mutation_p.R9113C|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000419746.1_RNA			Q8WZ42	TITIN_HUMAN	titin	16537	Fibronectin type-III 20. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.R9113C(1)|p.R9238C(1)|p.R9305C(1)|p.R15610C(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CCTTTGGTGCGTGCCAAAACT	0.453													G|||	2	0.000399361	0.0	0.0014	5008	,	,		18243	0.0		0.0	False		,,,				2504	0.001					ENST00000589042.1																			4	Substitution - Missense(4)	p.R9113C(1)|p.R9238C(1)|p.R9305C(1)|p.R15610C(1)	large_intestine(4)	NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(54532-54534)Cgc>Tgc		titin							149.0	147.0	147.0					2																	179468882		1929	4131	6060	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179468882G>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.49609C>T	2.37:g.179468882G>A	ENSP00000465570:p.Arg16537Cys					TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.R9113C|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589234.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.R16537C|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.R9305C|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R15610C|TTN_ENST00000359218.5_Missense_Mutation_p.R9238C	p.R18178C	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		282	54756	-			16537			Ig-like 105.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.54532C>T		.	.	.	.	.	.	.	.	.	.	G	11.16	1.556690	0.27827	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.57752	0.38;0.38;0.38;0.38	6.16	6.16	0.99307	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.41305	0.1153	N	0.25245	0.725	0.40703	D	0.982507	B;B;B;B	0.18863	0.031;0.031;0.031;0.031	B;B;B;B	0.15052	0.012;0.012;0.012;0.012	T	0.29822	-0.9999	9	0.87932	D	0	.	13.9788	0.64291	0.0686:0.0:0.9314:0.0	.	9113;9238;9305;16537	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	C	15610;9113;9305;9238;9113	ENSP00000343764:R15610C;ENSP00000434586:R9113C;ENSP00000340554:R9305C;ENSP00000352154:R9238C	ENSP00000340554:R9305C	R	-	1	0	TTN	179177127	1.000000	0.71417	0.996000	0.52242	0.784000	0.44337	3.705000	0.54823	2.937000	0.99478	0.650000	0.86243	CGC		0.453	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		47	80	0	0	0	1	0	47	80				
COL3A1	1281	broad.mit.edu	37	2	189873767	189873767	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-A61C-01A-11D-A29Q-08	TCGA-HT-A61C-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afbb1eaf-692a-4f24-8d59-049b4f6c59dc	03f58553-7605-4ed2-ace0-6ce09e76087d	g.chr2:189873767G>A	ENST00000304636.3	+	48	3813	c.3643G>A	c.(3643-3645)Ggt>Agt	p.G1215S	COL3A1_ENST00000317840.5_Missense_Mutation_p.G912S	NM_000090.3	NP_000081	P02461	CO3A1_HUMAN	collagen, type III, alpha 1	1215					aging (GO:0007568)|axon guidance (GO:0007411)|blood vessel development (GO:0001568)|cell-matrix adhesion (GO:0007160)|cellular response to amino acid stimulus (GO:0071230)|cerebral cortex development (GO:0021987)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|digestive tract development (GO:0048565)|extracellular fibril organization (GO:0043206)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|integrin-mediated signaling pathway (GO:0007229)|negative regulation of immune response (GO:0050777)|negative regulation of neuron migration (GO:2001223)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|positive regulation of Rho protein signal transduction (GO:0035025)|response to cytokine (GO:0034097)|response to mechanical stimulus (GO:0009612)|response to radiation (GO:0009314)|skeletal system development (GO:0001501)|skin development (GO:0043588)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	collagen type III trimer (GO:0005586)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	extracellular matrix structural constituent (GO:0005201)|integrin binding (GO:0005178)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)			NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126			OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		Collagenase(DB00048)	AAAAGCTGGCGGTTTTGCCCC	0.507																																						ENST00000304636.3																			0				NS(2)|breast(1)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(60)|ovary(4)|pancreas(1)|prostate(5)|skin(10)|upper_aerodigestive_tract(3)|urinary_tract(3)	126						c.(3643-3645)Ggt>Agt		collagen, type III, alpha 1	Collagenase(DB00048)|Palifermin(DB00039)						106.0	113.0	111.0					2																	189873767		2203	4300	6503	SO:0001583	missense	1281				axon guidance|cell-matrix adhesion|collagen biosynthetic process|collagen fibril organization|fibril organization|heart development|integrin-mediated signaling pathway|negative regulation of immune response|peptide cross-linking|platelet activation|response to cytokine stimulus|response to radiation|skin development|transforming growth factor beta receptor signaling pathway	collagen type III|extracellular space	extracellular matrix structural constituent|integrin binding|platelet-derived growth factor binding	g.chr2:189873767G>A	X15332	CCDS2297.1	2q32.2	2014-09-17	2008-06-23		ENSG00000168542	ENSG00000168542		"""Collagens"""	2201	protein-coding gene	gene with protein product		120180	"""Ehlers-Danlos syndrome type IV, autosomal dominant"""	EDS4A		2780304, 2834369	Standard	NM_000090		Approved		uc002uqj.1	P02461	OTTHUMG00000132648	ENST00000304636.3:c.3643G>A	2.37:g.189873767G>A	ENSP00000304408:p.Gly1215Ser					COL3A1_ENST00000317840.5_Missense_Mutation_p.G912S	p.G1215S	NM_000090.3	NP_000081.1	P02461	CO3A1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0106)|Epithelial(96;0.141)		48	3813	+			1215					D2JYH5|D3DPH4|P78429|Q15112|Q16403|Q53S91|Q541P8|Q6LDB3|Q6LDJ2|Q6LDJ3|Q7KZ56|Q8N6U4|Q9UC88|Q9UC89|Q9UC90|Q9UC91|R4N3C5|V9GZI1	Missense_Mutation	SNP	ENST00000304636.3	37	c.3643G>A	CCDS2297.1	.	.	.	.	.	.	.	.	.	.	G	19.50	3.838787	0.71373	.	.	ENSG00000168542	ENST00000304636;ENST00000317840	D;D	0.89875	-2.45;-2.58	3.71	3.71	0.42584	.	0.000000	0.35466	N	0.003191	T	0.81331	0.4800	N	0.08118	0	0.28364	N	0.920322	D	0.63046	0.992	P	0.51297	0.665	T	0.72354	-0.4319	10	0.07813	T	0.8	.	15.73	0.77794	0.0:0.0:1.0:0.0	.	1215	P02461	CO3A1_HUMAN	S	1215;912	ENSP00000304408:G1215S;ENSP00000315243:G912S	ENSP00000304408:G1215S	G	+	1	0	COL3A1	189582012	0.988000	0.35896	0.096000	0.21009	0.228000	0.25075	3.349000	0.52217	2.369000	0.80426	0.655000	0.94253	GGT		0.507	COL3A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255899.3	NM_000090		4	110	0	0	0	1	0	4	110				
FSCN3	29999	broad.mit.edu	37	7	127240253	127240253	+	Missense_Mutation	SNP	G	G	C			TCGA-HT-A61C-01A-11D-A29Q-08	TCGA-HT-A61C-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afbb1eaf-692a-4f24-8d59-049b4f6c59dc	03f58553-7605-4ed2-ace0-6ce09e76087d	g.chr7:127240253G>C	ENST00000265825.5	+	6	1516	c.1297G>C	c.(1297-1299)Ggg>Cgg	p.G433R	FSCN3_ENST00000420086.2_Splice_Site_p.G297A	NM_020369.2	NP_065102.1	Q9NQT6	FSCN3_HUMAN	fascin actin-bundling protein 3, testicular	433						actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)				endometrium(2)|large_intestine(3)|liver(2)|lung(17)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30						TCCAGCACAGGGGGGATCCTT	0.572																																						ENST00000265825.5																			0				endometrium(2)|large_intestine(3)|liver(2)|lung(17)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	30						c.(1297-1299)Ggg>Cgg		fascin homolog 3, actin-bundling protein, testicular (Strongylocentrotus purpuratus)							52.0	49.0	50.0					7																	127240253		2203	4300	6503	SO:0001583	missense	29999					actin cytoskeleton|cytoplasm	actin filament binding|protein binding, bridging	g.chr7:127240253G>C		CCDS34746.1	7q31.3	2014-02-03	2014-02-03		ENSG00000106328	ENSG00000106328		"""Fascins"""	3961	protein-coding gene	gene with protein product		615800	"""fascin (Strongylocentrotus purpuratus) homolog 3 (actin-bundling protein, testicular)"", ""fascin homolog 3, actin-bundling protein, testicular (Strongylocentrotus purpuratus)"""			11925108	Standard	NM_020369		Approved		uc003vmd.2	Q9NQT6	OTTHUMG00000022935	ENST00000265825.5:c.1297G>C	7.37:g.127240253G>C	ENSP00000265825:p.Gly433Arg					FSCN3_ENST00000420086.2_Splice_Site_p.G297_splice	p.G433R	NM_020369.2	NP_065102.1	Q9NQT6	FSCN3_HUMAN			6	1516	+			433					A4D0Z2|A6NLL7|B2RA62|B4DU68	Missense_Mutation	SNP	ENST00000265825.5	37	c.1297G>C	CCDS34746.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	9.666|9.666	1.145305|1.145305	0.21288|0.21288	.|.	.|.	ENSG00000106328|ENSG00000106328	ENST00000420086|ENST00000265825	T|T	0.40225|0.43294	1.04|0.95	5.74|5.74	1.94|1.94	0.25998|0.25998	.|Actin cross-linking (1);	0.403237|0.403237	0.24309|0.24309	N|N	0.039656|0.039656	T|T	0.30166|0.30166	0.0756|0.0756	L|L	0.34521|0.34521	1.04|1.04	0.32618|0.32618	N|N	0.523711|0.523711	P|P	0.48294|0.46706	0.908|0.883	B|B	0.41860|0.42555	0.368|0.391	T|T	0.37798|0.37798	-0.9690|-0.9690	10|10	0.37606|0.38643	T|T	0.19|0.18	-23.3894|-23.3894	8.4096|8.4096	0.32636|0.32636	0.2956:0.0:0.7044:0.0|0.2956:0.0:0.7044:0.0	.|.	297|433	B4DU68|Q9NQT6	.|FSCN3_HUMAN	A|R	297|433	ENSP00000412243:G297A|ENSP00000265825:G433R	ENSP00000412243:G297A|ENSP00000265825:G433R	G|G	+|+	2|1	0|0	FSCN3|FSCN3	127027489|127027489	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	0.733000|0.733000	0.26087|0.26087	0.361000|0.361000	0.24292|0.24292	0.655000|0.655000	0.94253|0.94253	GGG|GGG		0.572	FSCN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059256.2	NM_020369		18	70	0	0	0	1	0	18	70				
MYO7B	4648	broad.mit.edu	37	2	128384765	128384765	+	Missense_Mutation	SNP	G	G	A	rs372450782		TCGA-HT-A61C-01A-11D-A29Q-08	TCGA-HT-A61C-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afbb1eaf-692a-4f24-8d59-049b4f6c59dc	03f58553-7605-4ed2-ace0-6ce09e76087d	g.chr2:128384765G>A	ENST00000409816.2	+	31	4294	c.4262G>A	c.(4261-4263)cGc>cAc	p.R1421H	MYO7B_ENST00000409090.1_Missense_Mutation_p.R274H|MYO7B_ENST00000428314.1_Missense_Mutation_p.R1421H|MYO7B_ENST00000389524.4_Missense_Mutation_p.R1421H|RP11-286H15.1_ENST00000609697.1_RNA			Q6PIF6	MYO7B_HUMAN	myosin VIIB	1421	FERM 1. {ECO:0000255|PROSITE- ProRule:PRU00084}.					extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|motor activity (GO:0003774)			breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75	Colorectal(110;0.1)			BRCA - Breast invasive adenocarcinoma(221;0.0753)		CCAGGCCCCCGCCTGCCCAAG	0.617																																						ENST00000389524.4																			0				breast(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(46)|ovary(3)|pancreas(1)|prostate(3)|urinary_tract(1)	75						c.(4261-4263)cGc>cAc		myosin VIIB		G	HIS/ARG	0,3878		0,0,1939	23.0	25.0	24.0		4262	2.8	1.0	2		24	1,8271		0,1,4135	no	missense	MYO7B	NM_001080527.1	29	0,1,6074	AA,AG,GG		0.0121,0.0,0.0082	probably-damaging	1421/2117	128384765	1,12149	1939	4136	6075	SO:0001583	missense	4648					apical plasma membrane|myosin complex	actin binding|ATP binding|motor activity	g.chr2:128384765G>A		CCDS46405.1	2q21.1	2011-09-27			ENSG00000169994	ENSG00000169994		"""Myosins / Myosin superfamily : Class VII"""	7607	protein-coding gene	gene with protein product		606541				8022818, 8884266	Standard	NM_001080527		Approved		uc002top.3	Q6PIF6	OTTHUMG00000153419	ENST00000409816.2:c.4262G>A	2.37:g.128384765G>A	ENSP00000386461:p.Arg1421His					MYO7B_ENST00000409816.2_Missense_Mutation_p.R1421H|MYO7B_ENST00000409090.1_Missense_Mutation_p.R274H|MYO7B_ENST00000428314.1_Missense_Mutation_p.R1421H	p.R1421H			Q6PIF6	MYO7B_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0753)	32	4315	+	Colorectal(110;0.1)		1421			FERM 1.		Q14786|Q8TEE1	Missense_Mutation	SNP	ENST00000409816.2	37	c.4262G>A	CCDS46405.1	.	.	.	.	.	.	.	.	.	.	g	14.22	2.469363	0.43839	0.0	1.21E-4	ENSG00000169994	ENST00000389524;ENST00000428314;ENST00000409816;ENST00000409090	D;D;D;D	0.91351	-2.83;-2.83;-2.83;-2.83	4.63	2.82	0.32997	FERM domain (1);	0.515806	0.20916	N	0.083362	D	0.85496	0.5710	L	0.51422	1.61	0.31578	N	0.655477	D	0.54207	0.965	B	0.38712	0.28	D	0.84308	0.0509	10	0.56958	D	0.05	.	10.6572	0.45682	0.1566:0.0:0.8434:0.0	.	1421	Q6PIF6	MYO7B_HUMAN	H	1421;1421;1421;274	ENSP00000374175:R1421H;ENSP00000415090:R1421H;ENSP00000386461:R1421H;ENSP00000386850:R274H	ENSP00000374175:R1421H	R	+	2	0	MYO7B	128101235	0.991000	0.36638	0.951000	0.38953	0.379000	0.30106	2.143000	0.42187	0.572000	0.29383	0.561000	0.74099	CGC		0.617	MYO7B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000331124.3	XM_291001		6	13	0	0	0	1	0	6	13				
LILRA6	79168	broad.mit.edu	37	19	54742930	54742930	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-A61C-01A-11D-A29Q-08	TCGA-HT-A61C-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afbb1eaf-692a-4f24-8d59-049b4f6c59dc	03f58553-7605-4ed2-ace0-6ce09e76087d	g.chr19:54742930T>C	ENST00000396365.2	-	8	1384	c.1345A>G	c.(1345-1347)Atc>Gtc	p.I449V	LILRA6_ENST00000391735.3_Intron|LILRB3_ENST00000407860.2_Intron|LILRA6_ENST00000419410.2_Intron|LILRA6_ENST00000440558.2_Intron|LILRA6_ENST00000245621.5_Missense_Mutation_p.I432V|LILRA6_ENST00000270464.5_Intron	NM_024318.2	NP_077294	Q6PI73	LIRA6_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 6	449					immune system process (GO:0002376)	integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(20)|ovary(3)|skin(2)|urinary_tract(2)	38	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		CCCATGCGGATGAGATTCTCC	0.582																																						ENST00000396365.2																			0				central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(20)|ovary(3)|skin(2)|urinary_tract(2)	38						c.(1345-1347)Atc>Gtc		leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 6							122.0	109.0	113.0					19																	54742930		2178	4299	6477	SO:0001583	missense	79168							g.chr19:54742930T>C	AF041262	CCDS42610.1	19q13.4	2013-01-11	2005-05-17	2005-05-17	ENSG00000244482	ENSG00000244482		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	15495	protein-coding gene	gene with protein product			"""leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 6"""	LILRB6		10941842	Standard	NM_024318		Approved	ILT8, CD85b		Q6PI73	OTTHUMG00000066635	ENST00000396365.2:c.1345A>G	19.37:g.54742930T>C	ENSP00000379651:p.Ile449Val					LILRA6_ENST00000270464.5_Intron|LILRA6_ENST00000419410.2_Intron|LILRA6_ENST00000391735.3_Intron|LILRB3_ENST00000407860.2_Intron|LILRA6_ENST00000245621.5_Missense_Mutation_p.I432V|LILRA6_ENST00000440558.2_Intron	p.I449V	NM_024318.2	NP_077294.2				GBM - Glioblastoma multiforme(193;0.105)	8	1384	-	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)								Missense_Mutation	SNP	ENST00000396365.2	37	c.1345A>G	CCDS42610.1	.	.	.	.	.	.	.	.	.	.	T	8.861	0.947025	0.18356	.	.	ENSG00000244482	ENST00000396365;ENST00000245621	T;T	0.00545	6.67;6.82	2.69	1.49	0.22878	.	10.705300	0.00481	N	0.000138	T	0.00815	0.0027	M	0.67953	2.075	0.09310	N	0.999999	B	0.12630	0.006	B	0.01281	0.0	T	0.50898	-0.8773	10	0.54805	T	0.06	.	5.1718	0.15114	0.0:0.0:0.3066:0.6934	.	449	Q6PI73	LIRA6_HUMAN	V	449;432	ENSP00000379651:I449V;ENSP00000245621:I432V	ENSP00000245621:I432V	I	-	1	0	LILRA6	59434742	0.018000	0.18449	0.451000	0.26982	0.168000	0.22595	-0.515000	0.06290	1.239000	0.43787	0.147000	0.16070	ATC		0.582	LILRA6-003	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000313725.1	NM_024318		32	84	0	0	0	1	0	32	84				
TMEM184C	55751	broad.mit.edu	37	4	148555479	148555479	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-A61C-01A-11D-A29Q-08	TCGA-HT-A61C-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afbb1eaf-692a-4f24-8d59-049b4f6c59dc	03f58553-7605-4ed2-ace0-6ce09e76087d	g.chr4:148555479C>T	ENST00000296582.3	+	10	1785	c.1211C>T	c.(1210-1212)aCt>aTt	p.T404I	TMEM184C_ENST00000508208.1_Intron	NM_018241.2	NP_060711.2	Q9NVA4	T184C_HUMAN	transmembrane protein 184C	404						integral component of membrane (GO:0016021)				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(2)|prostate(1)	16						TTTGGACACACTGTGACTCCC	0.408																																						ENST00000296582.3																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(2)|prostate(1)	16						c.(1210-1212)aCt>aTt		transmembrane protein 184C							106.0	99.0	101.0					4																	148555479		2203	4300	6503	SO:0001583	missense	55751					integral to membrane		g.chr4:148555479C>T	AF305823	CCDS3770.1	4q31.22	2008-06-05	2008-06-05	2008-06-05		ENSG00000164168			25587	protein-coding gene	gene with protein product		613937	"""transmembrane protein 34"""	TMEM34			Standard	NM_018241		Approved	FLJ10846	uc003ila.4	Q9NVA4		ENST00000296582.3:c.1211C>T	4.37:g.148555479C>T	ENSP00000296582:p.Thr404Ile					TMEM184C_ENST00000508208.1_Intron	p.T404I	NM_018241.2	NP_060711.2	Q9NVA4	T184C_HUMAN			10	1785	+			404					D3DP04|Q86X84|Q969I7|Q9NXM2	Missense_Mutation	SNP	ENST00000296582.3	37	c.1211C>T	CCDS3770.1	.	.	.	.	.	.	.	.	.	.	C	32	5.148843	0.94603	.	.	ENSG00000164168	ENST00000296582	.	.	.	5.52	5.52	0.82312	.	0.098166	0.64402	D	0.000001	T	0.79896	0.4525	M	0.74881	2.28	0.80722	D	1	D	0.71674	0.998	D	0.76071	0.987	T	0.78682	-0.2109	9	0.45353	T	0.12	-24.8687	19.8125	0.96553	0.0:1.0:0.0:0.0	.	404	Q9NVA4	T184C_HUMAN	I	404	.	ENSP00000296582:T404I	T	+	2	0	TMEM184C	148774929	1.000000	0.71417	0.973000	0.42090	0.970000	0.65996	5.106000	0.64597	2.745000	0.94114	0.655000	0.94253	ACT		0.408	TMEM184C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364644.1	NM_018241		29	47	0	0	0	1	0	29	47				
OR56A4	120793	broad.mit.edu	37	11	6023641	6023641	+	Silent	SNP	G	G	A			TCGA-HT-A61C-01A-11D-A29Q-08	TCGA-HT-A61C-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afbb1eaf-692a-4f24-8d59-049b4f6c59dc	03f58553-7605-4ed2-ace0-6ce09e76087d	g.chr11:6023641G>A	ENST00000330728.4	-	1	783	c.738C>T	c.(736-738)gaC>gaT	p.D246D		NM_001005179.2	NP_001005179.2	Q8NGH8	O56A4_HUMAN	olfactory receptor, family 56, subfamily A, member 4	194						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(4)|large_intestine(5)|lung(17)|ovary(1)|skin(1)|urinary_tract(1)	32		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;7.01e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		TGAAAGTGATGTCATCACAAG	0.428																																						ENST00000330728.4																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|kidney(4)|large_intestine(5)|lung(17)|ovary(1)|skin(1)|urinary_tract(1)	32						c.(736-738)gaC>gaT		olfactory receptor, family 56, subfamily A, member 4							51.0	50.0	51.0					11																	6023641		2201	4296	6497	SO:0001819	synonymous_variant	120793				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:6023641G>A	BK004255	CCDS31404.1	11p15.4	2012-08-09			ENSG00000183389	ENSG00000183389		"""GPCR / Class A : Olfactory receptors"""	14791	protein-coding gene	gene with protein product							Standard	NM_001005179		Approved		uc010qzv.2	Q8NGH8	OTTHUMG00000165376	ENST00000330728.4:c.738C>T	11.37:g.6023641G>A							p.D246D	NM_001005179.2	NP_001005179.2	Q8NGH8	O56A4_HUMAN		Epithelial(150;7.01e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	783	-		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)	194					B9EH17	Silent	SNP	ENST00000330728.4	37	c.738C>T	CCDS31404.1																																																																																				0.428	OR56A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383756.2	NM_001005179		17	25	0	0	0	1	0	17	25				
MET	4233	broad.mit.edu	37	7	116412045	116412045	+	Splice_Site	SNP	T	T	A			TCGA-HT-A61C-01A-11D-A29Q-08	TCGA-HT-A61C-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afbb1eaf-692a-4f24-8d59-049b4f6c59dc	03f58553-7605-4ed2-ace0-6ce09e76087d	g.chr7:116412045T>A	ENST00000318493.6	+	14	3269		c.e14+2		MET_ENST00000397752.3_Splice_Site			Q9NWH9	SLTM_HUMAN	MET proto-oncogene, receptor tyrosine kinase						apoptotic process (GO:0006915)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.?(3)|p.982_1028del47(1)		NS(10)|breast(4)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(25)|large_intestine(8)|liver(3)|lung(70)|ovary(10)|pleura(2)|prostate(4)|skin(5)|stomach(6)|testis(1)|thyroid(4)|upper_aerodigestive_tract(64)|urinary_tract(3)	233	all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)	Ovarian(593;0.133)	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)			TTCCAGAAGGTATATTTCAGT	0.343			Mis		"""papillary renal, head-neck squamous cell """	papillary renal			Hereditary Papillary Renal Carcinoma (type 1)																													ENST00000397752.3				Dom	yes	Familial Papillary Renal Cancer	7	7q31	4233	Mis	met proto-oncogene (hepatocyte growth factor receptor)			E		papillary renal	"""papillary renal, head-neck squamous cell """		4	Unknown(4)	p.?(3)|p.982_1028del47(1)	lung(3)|central_nervous_system(1)	NS(10)|breast(4)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(25)|large_intestine(8)|liver(3)|lung(70)|ovary(10)|pleura(2)|prostate(4)|skin(5)|stomach(6)|testis(1)|thyroid(4)|upper_aerodigestive_tract(64)|urinary_tract(3)	233						c.e14+2		met proto-oncogene							61.0	57.0	58.0					7																	116412045		1828	4071	5899	SO:0001630	splice_region_variant	0	Hereditary Papillary Renal Carcinoma (type 1)	Familial Cancer Database	HPRC, Hereditary Papillary Renal Cell Cancer	axon guidance|cell proliferation	basal plasma membrane|integral to plasma membrane	ATP binding|hepatocyte growth factor receptor activity|protein binding	g.chr7:116412045T>A	M35073	CCDS43636.1, CCDS47689.1	7q31	2014-09-17	2014-06-26		ENSG00000105976	ENSG00000105976	2.7.10.1		7029	protein-coding gene	gene with protein product	"""hepatocyte growth factor receptor"""	164860	"""met proto-oncogene"""			1846706, 1611909	Standard	NM_001127500		Approved	HGFR, RCCP2	uc010lkh.3	P08581	OTTHUMG00000023299	ENST00000318493.6:c.3082+2T>A	7.37:g.116412045T>A						MET_ENST00000318493.6_Splice_Site		NM_000245.2|NM_001127500.1	NP_000236.2|NP_001120972.1	P08581	MET_HUMAN	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)		14	3228	+	all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)	Ovarian(593;0.133)						A8K5V8|B2RTX3|Q2VPK7|Q52MB3|Q658J7|Q6ZNF2|Q86TK6|Q9H7C3|Q9H8U9	Splice_Site	SNP	ENST00000318493.6	37		CCDS47689.1	.	.	.	.	.	.	.	.	.	.	T	18.46	3.629052	0.67015	.	.	ENSG00000105976	ENST00000397752;ENST00000318493	.	.	.	5.67	5.67	0.87782	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.1924	0.82000	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	MET	116199281	1.000000	0.71417	1.000000	0.80357	0.780000	0.44128	7.509000	0.81698	2.287000	0.76781	0.482000	0.46254	.		0.343	MET-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059620.3		Intron	29	847	0	0	0	1	0	29	847				
TRAF2	7186	broad.mit.edu	37	9	139815579	139815579	+	Silent	SNP	C	C	T			TCGA-HT-A61C-01A-11D-A29Q-08	TCGA-HT-A61C-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afbb1eaf-692a-4f24-8d59-049b4f6c59dc	03f58553-7605-4ed2-ace0-6ce09e76087d	g.chr9:139815579C>T	ENST00000247668.2	+	9	1102	c.1050C>T	c.(1048-1050)taC>taT	p.Y350Y	TRAF2_ENST00000359662.3_Silent_p.Y402Y|TRAF2_ENST00000536468.1_Silent_p.Y350Y	NM_021138.3	NP_066961.2	Q12933	TRAF2_HUMAN	TNF receptor-associated factor 2	350				LEMEASTYDGVFIWKISDFARKR -> RPFQAQCGHRYCSF CLASILRKL (in Ref. 1; AAA87706). {ECO:0000305}.	activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of NF-kappaB-inducing kinase activity (GO:0007250)|apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cellular protein complex assembly (GO:0043623)|cellular response to nitric oxide (GO:0071732)|innate immune response (GO:0045087)|negative regulation of glial cell apoptotic process (GO:0034351)|negative regulation of neuron death (GO:1901215)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of protein homodimerization activity (GO:0090073)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of T cell activation (GO:0050870)|positive regulation of T cell cytokine production (GO:0002726)|programmed necrotic cell death (GO:0097300)|protein autoubiquitination (GO:0051865)|protein catabolic process (GO:0030163)|protein complex assembly (GO:0006461)|protein heterooligomerization (GO:0051291)|protein homotrimerization (GO:0070207)|protein K63-linked ubiquitination (GO:0070534)|regulation of apoptotic process (GO:0042981)|regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001239)|regulation of immunoglobulin secretion (GO:0051023)|signal transduction (GO:0007165)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	CD40 receptor complex (GO:0035631)|cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|membrane raft (GO:0045121)|ubiquitin ligase complex (GO:0000151)	CD40 receptor binding (GO:0005174)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|ligase activity (GO:0016874)|protein phosphatase binding (GO:0019903)|signal transducer activity (GO:0004871)|sphingolipid binding (GO:0046625)|thioesterase binding (GO:0031996)|tumor necrosis factor receptor binding (GO:0005164)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	all_cancers(76;0.11)	Myeloproliferative disorder(178;0.0511)	STAD - Stomach adenocarcinoma(284;0.229)	OV - Ovarian serous cystadenocarcinoma(145;4.48e-06)|Epithelial(140;9.55e-06)		CATCCACCTACGATGGGGTCT	0.602																																						ENST00000359662.3																			0				breast(3)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						c.(1204-1206)taC>taT		TNF receptor-associated factor 2							89.0	71.0	77.0					9																	139815579		2203	4300	6503	SO:0001819	synonymous_variant	7186				activation of caspase activity|activation of NF-kappaB-inducing kinase activity|activation of pro-apoptotic gene products|cellular protein complex assembly|induction of apoptosis by extracellular signals|positive regulation of interleukin-2 production|positive regulation of JUN kinase activity|positive regulation of NF-kappaB transcription factor activity|positive regulation of T cell cytokine production|protein autoubiquitination|protein homotrimerization|protein K63-linked ubiquitination|tumor necrosis factor-mediated signaling pathway	CD40 receptor complex|cytosol|internal side of plasma membrane	CD40 receptor binding|enzyme binding|protein binding|signal transducer activity|sphingolipid binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr9:139815579C>T	U12597	CCDS7013.1	9q34	2013-01-09			ENSG00000127191	ENSG00000127191		"""RING-type (C3HC4) zinc fingers"""	12032	protein-coding gene	gene with protein product		601895				7639698	Standard	NM_021138		Approved	TRAP3	uc004cjv.3	Q12933	OTTHUMG00000020952	ENST00000247668.2:c.1050C>T	9.37:g.139815579C>T						TRAF2_ENST00000247668.2_Silent_p.Y350Y|TRAF2_ENST00000536468.1_Silent_p.Y350Y	p.Y402Y			Q12933	TRAF2_HUMAN	STAD - Stomach adenocarcinoma(284;0.229)	OV - Ovarian serous cystadenocarcinoma(145;4.48e-06)|Epithelial(140;9.55e-06)	9	1251	+	all_cancers(76;0.11)	Myeloproliferative disorder(178;0.0511)	350			MATH.		A8K107|B4DPJ7|Q7Z337|Q96NT2	Silent	SNP	ENST00000247668.2	37	c.1206C>T	CCDS7013.1																																																																																				0.602	TRAF2-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055166.1	NM_021138		38	44	0	0	0	1	0	38	44				
ANXA6	309	broad.mit.edu	37	5	150488109	150488109	+	Missense_Mutation	SNP	A	A	G			TCGA-HT-A61C-01A-11D-A29Q-08	TCGA-HT-A61C-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afbb1eaf-692a-4f24-8d59-049b4f6c59dc	03f58553-7605-4ed2-ace0-6ce09e76087d	g.chr5:150488109A>G	ENST00000354546.5	-	23	1914	c.1687T>C	c.(1687-1689)Ttc>Ctc	p.F563L	ANXA6_ENST00000523714.1_Missense_Mutation_p.F531L|ANXA6_ENST00000521512.1_Missense_Mutation_p.F350L|ANXA6_ENST00000377751.5_Missense_Mutation_p.F220L|ANXA6_ENST00000356496.5_Missense_Mutation_p.F557L	NM_001155.4	NP_001146.2	P08133	ANXA6_HUMAN	annexin A6	563					calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|protein homooligomerization (GO:0051260)|regulation of muscle contraction (GO:0006937)	extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|late endosome membrane (GO:0031902)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|calcium-dependent protein binding (GO:0048306)|cholesterol binding (GO:0015485)|GTP binding (GO:0005525)|ligand-gated ion channel activity (GO:0015276)|lipid binding (GO:0008289)|protein homodimerization activity (GO:0042803)			endometrium(2)|kidney(1)|lung(9)	12		Medulloblastoma(196;0.0912)|all_hematologic(541;0.208)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)			AACTCCTGGAAGACTGGCCAC	0.582																																						ENST00000354546.5																			0				endometrium(2)|kidney(1)|lung(9)	12						c.(1687-1689)Ttc>Ctc		annexin A6							136.0	136.0	136.0					5																	150488109		1966	4155	6121	SO:0001583	missense	309					melanosome	calcium ion binding|calcium-dependent phospholipid binding|protein binding	g.chr5:150488109A>G	J03578	CCDS47315.1, CCDS54941.1	5q33.1	2008-02-05			ENSG00000197043	ENSG00000197043		"""Annexins"""	544	protein-coding gene	gene with protein product		114070		ANX6		3258820	Standard	NM_001155		Approved		uc003ltl.2	P08133	OTTHUMG00000164179	ENST00000354546.5:c.1687T>C	5.37:g.150488109A>G	ENSP00000346550:p.Phe563Leu					ANXA6_ENST00000356496.5_Missense_Mutation_p.F557L|ANXA6_ENST00000377751.5_Missense_Mutation_p.F220L|ANXA6_ENST00000521512.1_Missense_Mutation_p.F350L|ANXA6_ENST00000523714.1_Missense_Mutation_p.F531L	p.F563L	NM_001155.4	NP_001146.2	P08133	ANXA6_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		23	1914	-		Medulloblastoma(196;0.0912)|all_hematologic(541;0.208)	563					B7Z8A7|D3DQH4|E9PGK1|Q6ZT79	Missense_Mutation	SNP	ENST00000354546.5	37	c.1687T>C	CCDS47315.1	.	.	.	.	.	.	.	.	.	.	A	32	5.187502	0.94923	.	.	ENSG00000197043	ENST00000354546;ENST00000523714;ENST00000377751;ENST00000356496;ENST00000521512;ENST00000540153	T;T;T;T;T	0.03607	3.87;3.87;3.87;3.87;3.87	5.57	5.57	0.84162	Annexin repeat, conserved site (1);	0.113654	0.64402	D	0.000010	T	0.17619	0.0423	M	0.80746	2.51	0.80722	D	1	D;D;D	0.63880	0.993;0.966;0.986	P;P;P	0.62649	0.905;0.687;0.804	T	0.00184	-1.1944	10	0.72032	D	0.01	.	14.7245	0.69332	1.0:0.0:0.0:0.0	.	350;557;563	E5RK69;A6NN80;P08133	.;.;ANXA6_HUMAN	L	563;531;220;557;350;437	ENSP00000346550:F563L;ENSP00000430517:F531L;ENSP00000366980:F220L;ENSP00000348889:F557L;ENSP00000430420:F350L	ENSP00000346550:F563L	F	-	1	0	ANXA6	150468302	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	7.661000	0.83786	2.126000	0.65437	0.533000	0.62120	TTC		0.582	ANXA6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000377668.2	NM_001155		64	105	0	0	0	1	0	64	105				
TMEM67	91147	broad.mit.edu	37	8	94828614	94828614	+	Silent	SNP	C	C	T			TCGA-HT-A61C-01A-11D-A29Q-08	TCGA-HT-A61C-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afbb1eaf-692a-4f24-8d59-049b4f6c59dc	03f58553-7605-4ed2-ace0-6ce09e76087d	g.chr8:94828614C>T	ENST00000453321.3	+	28	2980	c.2922C>T	c.(2920-2922)atC>atT	p.I974I	TMEM67_ENST00000409623.3_Silent_p.I893I	NM_153704.5	NP_714915.3	Q5HYA8	MKS3_HUMAN	transmembrane protein 67	974					cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|negative regulation of centrosome duplication (GO:0010826)	centrosome (GO:0005813)|ciliary membrane (GO:0060170)|cytoplasmic vesicle membrane (GO:0030659)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|TCTN-B9D complex (GO:0036038)	filamin binding (GO:0031005)|unfolded protein binding (GO:0051082)			breast(3)|endometrium(8)|kidney(5)|large_intestine(4)|liver(2)|lung(15)|ovary(2)|skin(1)|urinary_tract(1)	41	Breast(36;4.14e-07)		BRCA - Breast invasive adenocarcinoma(8;0.00896)			TTAGATATATCCGTAATACAG	0.259																																						ENST00000453321.3																			0				breast(3)|endometrium(8)|kidney(5)|large_intestine(4)|liver(2)|lung(15)|ovary(2)|skin(1)|urinary_tract(1)	41						c.(2920-2922)atC>atT		transmembrane protein 67							42.0	49.0	47.0					8																	94828614		2193	4269	6462	SO:0001819	synonymous_variant	91147				cilium assembly|ER-associated protein catabolic process|negative regulation of centrosome duplication	centrosome|cilium membrane|cytoplasmic vesicle membrane|endoplasmic reticulum membrane|integral to membrane|microtubule basal body	unfolded protein binding	g.chr8:94828614C>T	BX648768	CCDS6258.2, CCDS47893.1	8q22.1	2014-09-17			ENSG00000164953	ENSG00000164953			28396	protein-coding gene	gene with protein product	"""Meckelin"""	609884	"""Meckel syndrome, type 3"""	MKS3		12384791, 16415887, 19508969	Standard	NM_153704		Approved	MGC26979, JBTS6, NPHP11	uc011lgk.2	Q5HYA8	OTTHUMG00000153119	ENST00000453321.3:c.2922C>T	8.37:g.94828614C>T						TMEM67_ENST00000409623.3_Silent_p.I893I	p.I974I	NM_153704.5	NP_714915.3	Q5HYA8	MKS3_HUMAN	BRCA - Breast invasive adenocarcinoma(8;0.00896)		28	2980	+	Breast(36;4.14e-07)		974					B3KRU5|B3KT47|G5E9H2|Q3ZCX3|Q7Z5T8|Q8IZ06	Silent	SNP	ENST00000453321.3	37	c.2922C>T	CCDS6258.2																																																																																				0.259	TMEM67-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329641.2	NM_153704		8	23	0	0	0	1	0	8	23				
UGT2B11	10720	broad.mit.edu	37	4	70070287	70070287	+	Missense_Mutation	SNP	C	C	A	rs113129893		TCGA-HT-A61C-01A-11D-A29Q-08	TCGA-HT-A61C-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afbb1eaf-692a-4f24-8d59-049b4f6c59dc	03f58553-7605-4ed2-ace0-6ce09e76087d	g.chr4:70070287C>A	ENST00000446444.1	-	5	1179	c.1171G>T	c.(1171-1173)Gtg>Ttg	p.V391L	RP11-704M14.1_ENST00000504301.1_RNA|RP11-704M14.1_ENST00000505646.1_RNA	NM_001073.1	NP_001064.1	O75310	UDB11_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B11	391					estrogen metabolic process (GO:0008210)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	42						GGAATGCCCACCATAGGGATC	0.428													.|||	0	0.0	0.0	0.0	5008	,	,		17908	0.0		0.0	False		,,,				2504	0.0					ENST00000446444.1																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	42						c.(1171-1173)Gtg>Ttg		UDP glucuronosyltransferase 2 family, polypeptide B11							126.0	125.0	125.0					4																	70070287		2203	4300	6503	SO:0001583	missense	10720				estrogen metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	g.chr4:70070287C>A	AF016492	CCDS3527.1	4q13.3	2008-02-05	2005-07-20		ENSG00000213759	ENSG00000213759		"""UDP glucuronosyltransferases"""	12545	protein-coding gene	gene with protein product		603064	"""UDP glycosyltransferase 2 family, polypeptide B11"""			9675083	Standard	NM_001073		Approved		uc003heh.3	O75310	OTTHUMG00000129395	ENST00000446444.1:c.1171G>T	4.37:g.70070287C>A	ENSP00000387683:p.Val391Leu					RP11-704M14.1_ENST00000504301.1_RNA|RP11-704M14.1_ENST00000505646.1_RNA	p.V391L	NM_001073.1	NP_001064.1	O75310	UDB11_HUMAN			5	1179	-			391					Q3KNV9	Missense_Mutation	SNP	ENST00000446444.1	37	c.1171G>T	CCDS3527.1	.	.	.	.	.	.	.	.	.	.	-	11.02	1.516352	0.27123	.	.	ENSG00000213759	ENST00000446444	T	0.63417	-0.04	1.96	1.96	0.26148	.	0.000000	0.64402	U	0.000009	T	0.71108	0.3301	M	0.69523	2.12	0.22858	N	0.998649	D	0.65815	0.995	P	0.61003	0.882	T	0.61173	-0.7116	10	0.62326	D	0.03	.	9.5515	0.39313	0.0:1.0:0.0:0.0	.	391	O75310	UDB11_HUMAN	L	391	ENSP00000387683:V391L	ENSP00000387683:V391L	V	-	1	0	UGT2B11	70104876	0.999000	0.42202	0.893000	0.35052	0.061000	0.15899	0.647000	0.24812	1.087000	0.41251	0.184000	0.17185	GTG		0.428	UGT2B11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251551.2	NM_001073		13	136	1	0	6.72482e-11	1	7.18074e-11	13	136				
CHD8	57680	broad.mit.edu	37	14	21884050	21884050	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-A61C-01A-11D-A29Q-08	TCGA-HT-A61C-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afbb1eaf-692a-4f24-8d59-049b4f6c59dc	03f58553-7605-4ed2-ace0-6ce09e76087d	g.chr14:21884050C>T	ENST00000557364.1	-	6	1996	c.1733G>A	c.(1732-1734)cGc>cAc	p.R578H	CHD8_ENST00000555962.1_Intron|CHD8_ENST00000399982.2_Missense_Mutation_p.R578H|CHD8_ENST00000430710.3_Missense_Mutation_p.R299H			Q9HCK8	CHD8_HUMAN	chromodomain helicase DNA binding protein 8	578					ATP catabolic process (GO:0006200)|ATP-dependent chromatin remodeling (GO:0043044)|canonical Wnt signaling pathway (GO:0060070)|DNA duplex unwinding (GO:0032508)|in utero embryonic development (GO:0001701)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of Wnt signaling pathway (GO:0030178)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	MLL1 complex (GO:0071339)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|beta-catenin binding (GO:0008013)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA-dependent ATPase activity (GO:0008094)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|p53 binding (GO:0002039)	p.R578H(1)		NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	85	all_cancers(95;0.00121)		Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)		CTTAACTTGGCGGTTTGAGCG	0.378																																						ENST00000399982.2																			1	Substitution - Missense(1)	p.R578H(1)	kidney(1)	NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(33)|ovary(6)|prostate(7)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	85						c.(1732-1734)cGc>cAc		chromodomain helicase DNA binding protein 8							189.0	178.0	182.0					14																	21884050		1836	4082	5918	SO:0001583	missense	57680				ATP-dependent chromatin remodeling|canonical Wnt receptor signaling pathway|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase III promoter|transcription, DNA-dependent	MLL1 complex	ATP binding|beta-catenin binding|DNA binding|DNA helicase activity|DNA-dependent ATPase activity|methylated histone residue binding|p53 binding	g.chr14:21884050C>T	AB046784	CCDS45081.1, CCDS53885.1	14q11.2	2008-02-05	2004-06-22	2004-06-23		ENSG00000100888			20153	protein-coding gene	gene with protein product		610528	"""helicase with SNF2 domain 1"""	HELSNF1		10997877	Standard	NM_020920		Approved	KIAA1564, DUPLIN	uc001war.2	Q9HCK8		ENST00000557364.1:c.1733G>A	14.37:g.21884050C>T	ENSP00000451601:p.Arg578His					CHD8_ENST00000557364.1_Missense_Mutation_p.R578H|CHD8_ENST00000555962.1_Intron|CHD8_ENST00000430710.3_Missense_Mutation_p.R299H	p.R578H	NM_001170629.1	NP_001164100.1	Q9HCK8	CHD8_HUMAN	Epithelial(56;2.55e-06)|all cancers(55;1.73e-05)	GBM - Glioblastoma multiforme(265;0.00424)	5	1797	-	all_cancers(95;0.00121)		578					Q4G0D8|Q68DQ0|Q6DKH9|Q6P440|Q6ZNL7|Q8N3Z9|Q8NCY4|Q8TBR9|Q96F26	Missense_Mutation	SNP	ENST00000557364.1	37	c.1733G>A	CCDS53885.1	.	.	.	.	.	.	.	.	.	.	C	28.5	4.928726	0.92389	.	.	ENSG00000100888	ENST00000430710;ENST00000399982;ENST00000262707;ENST00000557364	T;T;T	0.67698	-0.28;-0.28;-0.28	5.07	5.07	0.68467	.	0.000000	0.85682	D	0.000000	T	0.80844	0.4701	M	0.68952	2.095	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.82623	-0.0366	10	0.87932	D	0	-8.1484	17.3917	0.87434	0.0:1.0:0.0:0.0	.	299	Q9HCK8-2	.	H	299;578;298;578	ENSP00000406288:R299H;ENSP00000382863:R578H;ENSP00000451601:R578H	ENSP00000262707:R298H	R	-	2	0	CHD8	20953890	1.000000	0.71417	0.999000	0.59377	0.999000	0.98932	7.260000	0.78391	2.636000	0.89361	0.655000	0.94253	CGC		0.378	CHD8-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410436.1	NM_020920		26	25	0	0	0	1	0	26	25				
PGM2L1	283209	broad.mit.edu	37	11	74085469	74085469	+	Silent	SNP	C	C	T			TCGA-HT-A61C-01A-11D-A29Q-08	TCGA-HT-A61C-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afbb1eaf-692a-4f24-8d59-049b4f6c59dc	03f58553-7605-4ed2-ace0-6ce09e76087d	g.chr11:74085469C>T	ENST00000298198.4	-	2	581	c.270G>A	c.(268-270)caG>caA	p.Q90Q		NM_173582.3	NP_775853.2	Q6PCE3	PGM2L_HUMAN	phosphoglucomutase 2-like 1	90					glucose metabolic process (GO:0006006)|phosphorylation (GO:0016310)	cytosol (GO:0005829)	glucose-1,6-bisphosphate synthase activity (GO:0047933)|intramolecular transferase activity, phosphotransferases (GO:0016868)			NS(2)|breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26	Breast(11;3.32e-06)					CCTGTGTTGACTGTATTACTG	0.463																																						ENST00000298198.4																			0				NS(2)|breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26						c.(268-270)caG>caA		phosphoglucomutase 2-like 1							91.0	85.0	87.0					11																	74085469		2200	4293	6493	SO:0001819	synonymous_variant	283209				glucose 1-phosphate metabolic process	cytosol	glucose-1,6-bisphosphate synthase activity|phosphoglucomutase activity	g.chr11:74085469C>T	AB019210	CCDS8231.1	11q13.3	2008-12-01			ENSG00000165434	ENSG00000165434			20898	protein-coding gene	gene with protein product	"""glucose-1,6-bisphosphate synthase"""	611610				17804405	Standard	NM_173582		Approved	FLJ32029, BM32A	uc001ovb.1	Q6PCE3	OTTHUMG00000168132	ENST00000298198.4:c.270G>A	11.37:g.74085469C>T							p.Q90Q	NM_173582.3	NP_775853.2	Q6PCE3	PGM2L_HUMAN			2	581	-	Breast(11;3.32e-06)		90					Q96MQ7|Q9UIK3	Silent	SNP	ENST00000298198.4	37	c.270G>A	CCDS8231.1																																																																																				0.463	PGM2L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398324.1	NM_173582		11	19	0	0	0	1	0	11	19				
COL27A1	85301	broad.mit.edu	37	9	117005792	117005792	+	Missense_Mutation	SNP	G	G	C			TCGA-HT-A61C-01A-11D-A29Q-08	TCGA-HT-A61C-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afbb1eaf-692a-4f24-8d59-049b4f6c59dc	03f58553-7605-4ed2-ace0-6ce09e76087d	g.chr9:117005792G>C	ENST00000356083.3	+	23	3277	c.2886G>C	c.(2884-2886)caG>caC	p.Q962H		NM_032888.2	NP_116277.2	Q8IZC6	CORA1_HUMAN	collagen, type XXVII, alpha 1	962	Collagen-like 6.|Pro-rich.|Triple-helical region.				extracellular matrix organization (GO:0030198)	endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|fibrillar collagen trimer (GO:0005583)	extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)			central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3)	80						TGCAGGGTCAGCCTGGCAGGA	0.627																																						ENST00000356083.3																			0				central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(17)|lung(30)|ovary(4)|prostate(6)|skin(3)|soft_tissue(1)|stomach(1)|urinary_tract(3)	80						c.(2884-2886)caG>caC		collagen, type XXVII, alpha 1							40.0	42.0	41.0					9																	117005792		2203	4300	6503	SO:0001583	missense	85301				cell adhesion		extracellular matrix structural constituent	g.chr9:117005792G>C	AB058773	CCDS6802.1	9q33.1	2013-01-16			ENSG00000196739	ENSG00000196739		"""Collagens"""	22986	protein-coding gene	gene with protein product		608461				12766169	Standard	NM_032888		Approved	KIAA1870, MGC11337, FLJ11895	uc011lxl.2	Q8IZC6	OTTHUMG00000020537	ENST00000356083.3:c.2886G>C	9.37:g.117005792G>C	ENSP00000348385:p.Gln962His						p.Q962H	NM_032888.2	NP_116277.2	Q8IZC6	CORA1_HUMAN			23	3277	+			962			Collagen-like 6.|Pro-rich.|Triple-helical region.		Q66K43|Q96JF7	Missense_Mutation	SNP	ENST00000356083.3	37	c.2886G>C	CCDS6802.1	.	.	.	.	.	.	.	.	.	.	G	14.82	2.648267	0.47258	.	.	ENSG00000196739	ENST00000356083;ENST00000357257	D	0.93189	-3.18	5.66	-3.55	0.04639	.	.	.	.	.	D	0.86887	0.6041	L	0.39085	1.19	0.23827	N	0.996733	B	0.06786	0.001	B	0.12837	0.008	T	0.74768	-0.3553	9	0.46703	T	0.11	.	7.0219	0.24918	0.46:0.1235:0.4165:0.0	.	962	Q8IZC6	CORA1_HUMAN	H	962	ENSP00000348385:Q962H	ENSP00000348385:Q962H	Q	+	3	2	COL27A1	116045613	0.966000	0.33281	0.883000	0.34634	0.996000	0.88848	-0.002000	0.12924	-0.267000	0.09325	0.650000	0.86243	CAG		0.627	COL27A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053763.1	NM_032888		15	22	0	0	0	1	0	15	22				
CAPZA3	93661	broad.mit.edu	37	12	18891867	18891867	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-A61C-01A-11D-A29Q-08	TCGA-HT-A61C-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afbb1eaf-692a-4f24-8d59-049b4f6c59dc	03f58553-7605-4ed2-ace0-6ce09e76087d	g.chr12:18891867C>T	ENST00000317658.3	+	1	823	c.665C>T	c.(664-666)gCt>gTt	p.A222V	PLCZ1_ENST00000435379.1_5'Flank|PLCZ1_ENST00000447925.2_5'Flank|PLCZ1_ENST00000266505.7_5'Flank|RP11-361I14.2_ENST00000536931.1_RNA|PLCZ1_ENST00000539875.1_5'Flank	NM_033328.2	NP_201585.1	Q96KX2	CAZA3_HUMAN	capping protein (actin filament) muscle Z-line, alpha 3	222					actin cytoskeleton organization (GO:0030036)|actin filament capping (GO:0051693)|spermatid development (GO:0007286)	acrosomal vesicle (GO:0001669)|cortical cytoskeleton (GO:0030863)|F-actin capping protein complex (GO:0008290)|membrane (GO:0016020)|nucleus (GO:0005634)|WASH complex (GO:0071203)				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|prostate(1)	19	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241)	Hepatocellular(102;0.194)				GCTCAACTGGCTCTAAGTTTT	0.393																																						ENST00000317658.3																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(6)|ovary(1)|prostate(1)	19						c.(664-666)gCt>gTt		capping protein (actin filament) muscle Z-line, alpha 3							60.0	62.0	61.0					12																	18891867		2203	4299	6502	SO:0001583	missense	93661				actin cytoskeleton organization|actin filament capping	F-actin capping protein complex	actin binding	g.chr12:18891867C>T	AB053259	CCDS8681.1	12p12.3	2008-02-05			ENSG00000177938	ENSG00000177938			24205	protein-coding gene	gene with protein product		608722				12029070	Standard	NM_033328		Approved	Gsg3, CAPPA3	uc001rdy.3	Q96KX2	OTTHUMG00000169001	ENST00000317658.3:c.665C>T	12.37:g.18891867C>T	ENSP00000326238:p.Ala222Val						p.A222V	NM_033328.2	NP_201585.1	Q96KX2	CAZA3_HUMAN			1	823	+	Acute lymphoblastic leukemia(4;0.000455)|all_hematologic(4;0.0241)	Hepatocellular(102;0.194)	222					Q969J0	Missense_Mutation	SNP	ENST00000317658.3	37	c.665C>T	CCDS8681.1	.	.	.	.	.	.	.	.	.	.	C	14.51	2.557170	0.45590	.	.	ENSG00000177938	ENST00000317658	.	.	.	4.8	4.8	0.61643	.	0.225715	0.36374	N	0.002639	T	0.51736	0.1692	M	0.64404	1.975	0.47308	D	0.999384	B	0.30179	0.271	B	0.28991	0.097	T	0.54370	-0.8304	9	0.46703	T	0.11	-23.8606	8.9194	0.35601	0.0:0.9007:0.0:0.0993	.	222	Q96KX2	CAZA3_HUMAN	V	222	.	ENSP00000326238:A222V	A	+	2	0	CAPZA3	18783134	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	3.003000	0.49505	2.498000	0.84270	0.462000	0.41574	GCT		0.393	CAPZA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401902.1	NM_033328		10	26	0	0	0	1	0	10	26				
KCND2	3751	broad.mit.edu	37	7	120381623	120381623	+	Missense_Mutation	SNP	C	C	G			TCGA-HT-A61C-01A-11D-A29Q-08	TCGA-HT-A61C-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afbb1eaf-692a-4f24-8d59-049b4f6c59dc	03f58553-7605-4ed2-ace0-6ce09e76087d	g.chr7:120381623C>G	ENST00000331113.4	+	3	2279	c.1314C>G	c.(1312-1314)agC>agG	p.S438R		NM_012281.2	NP_036413.1	Q9NZV8	KCND2_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 2	438					action potential (GO:0001508)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	dendritic spine (GO:0043197)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	A-type (transient outward) potassium channel activity (GO:0005250)|metal ion binding (GO:0046872)|voltage-gated potassium channel activity (GO:0005249)			NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(35)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	75	all_neural(327;0.117)				Amitriptyline(DB00321)|Dalfampridine(DB06637)|Disopyramide(DB00280)|Imipramine(DB00458)	CAGCCAAAAGCGGAAGCGCAA	0.373																																						ENST00000331113.4																			0				NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(11)|lung(35)|ovary(3)|pancreas(1)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	75						c.(1312-1314)agC>agG		potassium voltage-gated channel, Shal-related subfamily, member 2							85.0	92.0	90.0					7																	120381623		2203	4300	6503	SO:0001583	missense	3751				regulation of action potential|synaptic transmission	cell surface|dendritic spine	metal ion binding	g.chr7:120381623C>G	AJ010969	CCDS5776.1	7q31	2012-07-05			ENSG00000184408	ENSG00000184408		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6238	protein-coding gene	gene with protein product		605410				10551270, 16382104	Standard	NM_012281		Approved	Kv4.2, RK5, KIAA1044	uc003vjj.1	Q9NZV8	OTTHUMG00000156989	ENST00000331113.4:c.1314C>G	7.37:g.120381623C>G	ENSP00000333496:p.Ser438Arg						p.S438R	NM_012281.2	NP_036413.1	Q9NZV8	KCND2_HUMAN			3	2279	+	all_neural(327;0.117)		438					O95012|O95021|Q2TBD3|Q9UBY7|Q9UN98|Q9UNH9	Missense_Mutation	SNP	ENST00000331113.4	37	c.1314C>G	CCDS5776.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	c|c	18.32|18.32	3.597729|3.597729	0.66332|0.66332	.|.	.|.	ENSG00000184408|ENSG00000184408	ENST00000425288|ENST00000331113	.|D	.|0.96802	.|-4.13	5.62|5.62	-2.11|-2.11	0.07187|0.07187	.|.	.|0.052641	.|0.64402	.|D	.|0.000001	D|D	0.92348|0.92348	0.7572|0.7572	L|L	0.46157|0.46157	1.445|1.445	0.31753|0.31753	N|N	0.634326|0.634326	.|P	.|0.38370	.|0.628	.|B	.|0.37144	.|0.242	D|D	0.87476|0.87476	0.2417|0.2417	5|9	.|.	.|.	.|.	.|.	12.5967|12.5967	0.56474|0.56474	0.0:0.384:0.0:0.616|0.0:0.384:0.0:0.616	.|.	.|438	.|Q9NZV8	.|KCND2_HUMAN	G|R	24|438	.|ENSP00000333496:S438R	.|.	A|S	+|+	2|3	0|2	KCND2|KCND2	120168859|120168859	0.000000|0.000000	0.05858|0.05858	0.971000|0.971000	0.41717|0.41717	0.979000|0.979000	0.70002|0.70002	-2.264000|-2.264000	0.01173|0.01173	-0.647000|-0.647000	0.05444|0.05444	-0.295000|-0.295000	0.09555|0.09555	GCG|AGC		0.373	KCND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346996.1	NM_012281		14	52	0	0	0	1	0	14	52				
SLC15A4	121260	broad.mit.edu	37	12	129283824	129283824	+	Missense_Mutation	SNP	A	A	T			TCGA-HT-A61C-01A-11D-A29Q-08	TCGA-HT-A61C-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afbb1eaf-692a-4f24-8d59-049b4f6c59dc	03f58553-7605-4ed2-ace0-6ce09e76087d	g.chr12:129283824A>T	ENST00000266771.5	-	7	1592	c.1553T>A	c.(1552-1554)aTg>aAg	p.M518K	SLC15A4_ENST00000545031.1_Missense_Mutation_p.M35K|SLC15A4_ENST00000544112.1_Missense_Mutation_p.M181K	NM_145648.3	NP_663623.1	Q8N697	S15A4_HUMAN	solute carrier family 15 (oligopeptide transporter), member 4	518					ion transport (GO:0006811)|oligopeptide transport (GO:0006857)|protein transport (GO:0015031)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)	L-histidine transmembrane transporter activity (GO:0005290)|symporter activity (GO:0015293)			endometrium(4)|kidney(2)|large_intestine(4)|lung(11)|skin(1)	22	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.69e-06)|Epithelial(86;1.17e-05)|all cancers(50;5.07e-05)		GTGACTGCTCATCCATCCGAT	0.542																																						ENST00000266771.5																			0				endometrium(4)|kidney(2)|large_intestine(4)|lung(11)|skin(1)	22						c.(1552-1554)aTg>aAg		solute carrier family 15 (oligopeptide transporter), member 4							114.0	108.0	110.0					12																	129283824		2203	4300	6503	SO:0001583	missense	121260				oligopeptide transport|protein transport	integral to membrane|lysosomal membrane	peptide:hydrogen symporter activity	g.chr12:129283824A>T	AY038999	CCDS9264.1	12q24.32	2013-07-18	2013-07-18		ENSG00000139370	ENSG00000139370		"""Solute carriers"""	23090	protein-coding gene	gene with protein product		615806	"""solute carrier family 15, member 4"""			11741232	Standard	NM_145648		Approved	PHT1, PTR4	uc001uhu.2	Q8N697	OTTHUMG00000168415	ENST00000266771.5:c.1553T>A	12.37:g.129283824A>T	ENSP00000266771:p.Met518Lys					SLC15A4_ENST00000545031.1_Missense_Mutation_p.M35K|SLC15A4_ENST00000544112.1_Missense_Mutation_p.M181K	p.M518K	NM_145648.3	NP_663623.1	Q8N697	S15A4_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;1.69e-06)|Epithelial(86;1.17e-05)|all cancers(50;5.07e-05)	7	1592	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)		518					A6H8Y9|B3KTK1|Q71M34|Q7Z5F8|Q8TAH0	Missense_Mutation	SNP	ENST00000266771.5	37	c.1553T>A	CCDS9264.1	.	.	.	.	.	.	.	.	.	.	A	19.95	3.922419	0.73213	.	.	ENSG00000139370	ENST00000266771;ENST00000545031;ENST00000544112	T;T	0.11712	4.03;2.75	5.0	5.0	0.66597	Major facilitator superfamily domain, general substrate transporter (1);	0.000000	0.85682	D	0.000000	T	0.25494	0.0620	M	0.73598	2.24	0.80722	D	1	D	0.53745	0.962	P	0.54590	0.756	T	0.02526	-1.1146	10	0.28530	T	0.3	.	14.7193	0.69294	1.0:0.0:0.0:0.0	.	518	Q8N697	S15A4_HUMAN	K	518;35;181	ENSP00000266771:M518K;ENSP00000439946:M181K	ENSP00000266771:M518K	M	-	2	0	SLC15A4	127849777	1.000000	0.71417	1.000000	0.80357	0.602000	0.36980	8.569000	0.90744	1.873000	0.54277	0.533000	0.62120	ATG		0.542	SLC15A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399663.1	NM_145648		51	74	0	0	0	1	0	51	74				
MUC4	4585	broad.mit.edu	37	3	195505772	195505772	+	Missense_Mutation	SNP	C	C	G	rs556354486		TCGA-HT-A61C-01A-11D-A29Q-08	TCGA-HT-A61C-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afbb1eaf-692a-4f24-8d59-049b4f6c59dc	03f58553-7605-4ed2-ace0-6ce09e76087d	g.chr3:195505772C>G	ENST00000463781.3	-	2	13138	c.12679G>C	c.(12679-12681)Gtc>Ctc	p.V4227L	MUC4_ENST00000475231.1_Missense_Mutation_p.V4227L|MUC4_ENST00000349607.4_Intron|MUC4_ENST00000346145.4_Intron	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	984					cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)	p.V4227L(1)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		AGGCTGGTGACAGGAAGAGGG	0.582													.|||	1	0.000199681	0.0	0.0	5008	,	,		15508	0.0		0.001	False		,,,				2504	0.0					ENST00000463781.3																			1	Substitution - Missense(1)	p.V4227L(1)	lung(1)	NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51						c.(12679-12681)Gtc>Ctc		mucin 4, cell surface associated																																				SO:0001583	missense	4585				cell-matrix adhesion	integral to plasma membrane|proteinaceous extracellular matrix	ErbB-2 class receptor binding|extracellular matrix constituent, lubricant activity	g.chr3:195505772C>G	AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000463781.3:c.12679G>C	3.37:g.195505772C>G	ENSP00000417498:p.Val4227Leu					MUC4_ENST00000349607.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.V4227L|MUC4_ENST00000346145.4_Intron	p.V4227L	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)	2	13138	-	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	984					O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Missense_Mutation	SNP	ENST00000463781.3	37	c.12679G>C	CCDS54700.1	.	.	.	.	.	.	.	.	.	.	c	5.247	0.230981	0.09969	.	.	ENSG00000145113	ENST00000463781;ENST00000475231	T;T	0.29655	1.56;1.6	1.57	0.566	0.17317	.	.	.	.	.	T	0.14227	0.0344	N	0.14661	0.345	0.19300	N	0.999978	B	0.27765	0.188	B	0.22601	0.04	T	0.27640	-1.0068	8	.	.	.	.	5.595	0.17321	0.0:0.6491:0.3509:0.0	.	4099	E7ESK3	.	L	4227	ENSP00000417498:V4227L;ENSP00000420243:V4227L	.	V	-	1	0	MUC4	196990551	0.000000	0.05858	0.020000	0.16555	0.011000	0.07611	-0.070000	0.11523	0.201000	0.20466	0.484000	0.47621	GTC		0.582	MUC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324081.6	NM_018406		3	22	0	0	0	1	0	3	22				
IGFN1	91156	broad.mit.edu	37	1	201186507	201186507	+	Missense_Mutation	SNP	G	G	A	rs146376343		TCGA-HT-A61C-01A-11D-A29Q-08	TCGA-HT-A61C-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afbb1eaf-692a-4f24-8d59-049b4f6c59dc	03f58553-7605-4ed2-ace0-6ce09e76087d	g.chr1:201186507G>A	ENST00000335211.4	+	17	9818	c.9688G>A	c.(9688-9690)Gcc>Acc	p.A3230T	IGFN1_ENST00000295591.8_Missense_Mutation_p.A390T	NM_001164586.1	NP_001158058.1	Q86VF2	IGFN1_HUMAN	immunoglobulin-like and fibronectin type III domain containing 1	773						nucleus (GO:0005634)|Z disc (GO:0030018)				autonomic_ganglia(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						CCCCGGCAGCGCCCACATCCT	0.662																																						ENST00000335211.4																			0				autonomic_ganglia(2)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						c.(9688-9690)Gcc>Acc		immunoglobulin-like and fibronectin type III domain containing 1		G	THR/ALA	0,4406		0,0,2203	70.0	68.0	69.0		9688	2.8	0.4	1	dbSNP_134	69	1,8599	1.2+/-3.3	0,1,4299	no	missense	IGFN1	NM_001164586.1	58	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign	3230/3709	201186507	1,13005	2203	4300	6503	SO:0001583	missense	91156							g.chr1:201186507G>A	AY245430	CCDS53455.1	1q32.1	2013-02-11			ENSG00000163395	ENSG00000163395		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	24607	protein-coding gene	gene with protein product							Standard	NM_001164586		Approved	DKFZp434B1231, EEF1A2BP1	uc001gwc.3	Q86VF2	OTTHUMG00000035728	ENST00000335211.4:c.9688G>A	1.37:g.201186507G>A	ENSP00000334714:p.Ala3230Thr					IGFN1_ENST00000295591.8_Missense_Mutation_p.A390T	p.A3230T	NM_001164586.1	NP_001158058.1					17	9818	+								F8WAI1|Q9NT72	Missense_Mutation	SNP	ENST00000335211.4	37	c.9688G>A	CCDS53455.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.91|11.91	1.778562|1.778562	0.31502|0.31502	0.0|0.0	1.16E-4|1.16E-4	ENSG00000163395|ENSG00000163395	ENST00000335211;ENST00000295591|ENST00000412892	T;T|.	0.57907|.	0.37;0.37|.	4.68|4.68	2.78|2.78	0.32641|0.32641	.|.	0.471504|.	0.19995|.	N|.	0.101466|.	T|T	0.22627|0.22627	0.0546|0.0546	N|N	0.21194|0.21194	0.64|0.64	0.22240|0.22240	N|N	0.999265|0.999265	P|.	0.36378|.	0.55|.	B|.	0.31290|.	0.127|.	T|T	0.22173|0.22173	-1.0224|-1.0224	10|5	0.35671|.	T|.	0.21|.	.|.	4.3756|4.3756	0.11269|0.11269	0.1976:0.0:0.5757:0.2266|0.1976:0.0:0.5757:0.2266	.|.	3230|.	F8WAI1|.	.|.	T|H	3230;390|647	ENSP00000334714:A3230T;ENSP00000295591:A390T|.	ENSP00000295591:A390T|.	A|R	+|+	1|2	0|0	IGFN1|IGFN1	199453130|199453130	0.053000|0.053000	0.20554|0.20554	0.438000|0.438000	0.26821|0.26821	0.215000|0.215000	0.24574|0.24574	0.267000|0.267000	0.18552|0.18552	0.385000|0.385000	0.24970|0.24970	-0.224000|-0.224000	0.12420|0.12420	GCC|CGC		0.662	IGFN1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_178275		71	83	0	0	0	1	0	71	83				
TRAM1L1	133022	broad.mit.edu	37	4	118006209	118006209	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-A61C-01A-11D-A29Q-08	TCGA-HT-A61C-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afbb1eaf-692a-4f24-8d59-049b4f6c59dc	03f58553-7605-4ed2-ace0-6ce09e76087d	g.chr4:118006209G>A	ENST00000310754.4	-	1	527	c.341C>T	c.(340-342)gCg>gTg	p.A114V		NM_152402.2	NP_689615.2	Q8N609	TR1L1_HUMAN	translocation associated membrane protein 1-like 1	114					protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)		p.A114E(1)		central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22						GTTTTGTTTCGCTTTGGTGAA	0.373																																						ENST00000310754.4																			1	Substitution - Missense(1)	p.A114E(1)	endometrium(1)	central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22						c.(340-342)gCg>gTg		translocation associated membrane protein 1-like 1							91.0	81.0	84.0					4																	118006209		2203	4300	6503	SO:0001583	missense	133022				protein transport|transmembrane transport	endoplasmic reticulum membrane|integral to membrane		g.chr4:118006209G>A	AK074617	CCDS3707.1	4q26	2008-02-05			ENSG00000174599	ENSG00000174599			28371	protein-coding gene	gene with protein product						12477932	Standard	NM_152402		Approved	MGC26568	uc003ibv.4	Q8N609	OTTHUMG00000132956	ENST00000310754.4:c.341C>T	4.37:g.118006209G>A	ENSP00000309402:p.Ala114Val						p.A114V	NM_152402.2	NP_689615.2	Q8N609	TR1L1_HUMAN			1	527	-			114					Q8N2L7	Missense_Mutation	SNP	ENST00000310754.4	37	c.341C>T	CCDS3707.1	.	.	.	.	.	.	.	.	.	.	G	3.668	-0.068127	0.07228	.	.	ENSG00000174599	ENST00000310754	T	0.40476	1.03	4.29	1.51	0.23008	TRAM1-like protein (1);	0.336824	0.34484	N	0.003930	T	0.12774	0.0310	N	0.03983	-0.305	0.09310	N	1	B	0.25351	0.124	B	0.15484	0.013	T	0.27640	-1.0068	10	0.06099	T	0.92	-18.2747	4.2726	0.10794	0.0922:0.1622:0.5897:0.1559	.	114	Q8N609	TR1L1_HUMAN	V	114	ENSP00000309402:A114V	ENSP00000309402:A114V	A	-	2	0	TRAM1L1	118225657	0.997000	0.39634	0.000000	0.03702	0.593000	0.36681	3.765000	0.55272	0.292000	0.22492	0.655000	0.94253	GCG		0.373	TRAM1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256513.1	NM_152402		12	31	0	0	0	1	0	12	31				
LDHA	3939	broad.mit.edu	37	11	18424533	18424533	+	Missense_Mutation	SNP	G	G	T			TCGA-HT-A61C-01A-11D-A29Q-08	TCGA-HT-A61C-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afbb1eaf-692a-4f24-8d59-049b4f6c59dc	03f58553-7605-4ed2-ace0-6ce09e76087d	g.chr11:18424533G>T	ENST00000422447.3	+	5	838	c.565G>T	c.(565-567)Gtc>Ttc	p.V189F	LDHA_ENST00000379412.5_Missense_Mutation_p.V189F|AC084117.3_ENST00000496975.2_RNA|LDHA_ENST00000396222.2_Missense_Mutation_p.V189F|LDHA_ENST00000227157.4_Missense_Mutation_p.V189F|LDHA_ENST00000540430.1_Missense_Mutation_p.V218F|LDHA_ENST00000542179.1_Missense_Mutation_p.V189F|LDHA_ENST00000430553.2_Missense_Mutation_p.V131F	NM_001135239.1|NM_005566.3	NP_001128711.1|NP_005557.1	P00338	LDHA_HUMAN	lactate dehydrogenase A	189					cellular carbohydrate metabolic process (GO:0044262)|cellular metabolic process (GO:0044237)|cellular response to extracellular stimulus (GO:0031668)|glycolytic process (GO:0006096)|pyruvate metabolic process (GO:0006090)|small molecule metabolic process (GO:0044281)|substantia nigra development (GO:0021762)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|sperm fibrous sheath (GO:0035686)	L-lactate dehydrogenase activity (GO:0004459)			central_nervous_system(3)|endometrium(1)|large_intestine(4)|lung(4)	12						TCATGGGTGGGTCCTTGGGGA	0.408																																						ENST00000422447.3																			0				central_nervous_system(3)|endometrium(1)|large_intestine(4)|lung(4)	12						c.(565-567)Gtc>Ttc		lactate dehydrogenase A	NADH(DB00157)						53.0	53.0	53.0					11																	18424533		2199	4293	6492	SO:0001583	missense	3939				glycolysis|pyruvate metabolic process	cytosol	L-lactate dehydrogenase activity|protein binding	g.chr11:18424533G>T	X02152	CCDS7839.1, CCDS44549.1, CCDS53609.1, CCDS53610.1, CCDS53611.1	11p15.1	2012-10-02			ENSG00000134333	ENSG00000134333	1.1.1.27		6535	protein-coding gene	gene with protein product		150000				3000353	Standard	NM_005566		Approved		uc010rdd.2	P00338	OTTHUMG00000167721	ENST00000422447.3:c.565G>T	11.37:g.18424533G>T	ENSP00000395337:p.Val189Phe					LDHA_ENST00000540430.1_Missense_Mutation_p.V218F|LDHA_ENST00000542179.1_Missense_Mutation_p.V189F|LDHA_ENST00000379412.5_Missense_Mutation_p.V189F|LDHA_ENST00000227157.4_Missense_Mutation_p.V189F|LDHA_ENST00000430553.2_Missense_Mutation_p.V131F|LDHA_ENST00000396222.2_Missense_Mutation_p.V189F	p.V189F	NM_001135239.1|NM_005566.3	NP_001128711.1|NP_005557.1	P00338	LDHA_HUMAN			5	838	+			189					B4DKQ2|B7Z5E3|D3DQY3|F8W819|Q53G53|Q6IBM7|Q6ZNV1|Q9UDE8|Q9UDE9	Missense_Mutation	SNP	ENST00000422447.3	37	c.565G>T	CCDS7839.1	.	.	.	.	.	.	.	.	.	.	G	19.98	3.926376	0.73327	.	.	ENSG00000134333	ENST00000422447;ENST00000430553;ENST00000396222;ENST00000541620;ENST00000445376;ENST00000227157;ENST00000540430;ENST00000379412;ENST00000542179	T;T;T;T;T;T;T	0.76186	-1.0;-1.0;-1.0;-1.0;-1.0;-1.0;-1.0	5.34	-2.22	0.06952	Lactate/malate dehydrogenase, C-terminal (1);Lactate dehydrogenase/glycoside hydrolase, family 4, C-terminal (2);	0.495500	0.21768	N	0.069419	D	0.87962	0.6310	H	0.96943	3.91	0.52501	D	0.999958	D;P;P;D;D	0.55605	0.972;0.788;0.734;0.964;0.971	D;P;P;P;P	0.64410	0.925;0.742;0.641;0.766;0.884	D	0.89026	0.3438	10	0.87932	D	0	-5.8587	12.1067	0.53816	0.7662:0.0:0.2338:0.0	.	218;131;162;189;189	B7Z5E3;B4DKQ2;B4DJI1;F8W819;P00338	.;.;.;.;LDHA_HUMAN	F	189;131;189;161;162;189;218;189;189	ENSP00000395337:V189F;ENSP00000406172:V131F;ENSP00000379524:V189F;ENSP00000227157:V189F;ENSP00000445175:V218F;ENSP00000368722:V189F;ENSP00000445331:V189F	ENSP00000227157:V189F	V	+	1	0	LDHA	18381109	0.996000	0.38824	0.987000	0.45799	0.996000	0.88848	0.486000	0.22340	-0.256000	0.09473	0.650000	0.86243	GTC		0.408	LDHA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258172.2	NM_005566		4	76	1	0	0.000602214	1	0.000621959	4	76				
PARM1	25849	broad.mit.edu	37	4	75938016	75938016	+	Missense_Mutation	SNP	C	C	A			TCGA-HT-A61C-01A-11D-A29Q-08	TCGA-HT-A61C-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afbb1eaf-692a-4f24-8d59-049b4f6c59dc	03f58553-7605-4ed2-ace0-6ce09e76087d	g.chr4:75938016C>A	ENST00000307428.7	+	2	637	c.425C>A	c.(424-426)gCt>gAt	p.A142D	RP11-44F21.2_ENST00000513770.1_RNA|PARM1_ENST00000513238.1_Intron	NM_015393.3	NP_056208.2	Q6UWI2	PARM1_HUMAN	prostate androgen-regulated mucin-like protein 1	142					positive regulation of telomerase activity (GO:0051973)	early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|plasma membrane (GO:0005886)				cervix(1)|endometrium(2)|lung(4)|ovary(1)	8						TCGCAGTCCGCTGCTGAGCCT	0.572																																						ENST00000307428.7																			0				cervix(1)|endometrium(2)|lung(4)|ovary(1)	8						c.(424-426)gCt>gAt		prostate androgen-regulated mucin-like protein 1							148.0	163.0	158.0					4																	75938016		2142	4243	6385	SO:0001583	missense	25849				positive regulation of telomerase activity	early endosome|endosome membrane|Golgi membrane|integral to membrane|late endosome|plasma membrane		g.chr4:75938016C>A	AK022311	CCDS47077.1	4q13.3-q21.3	2010-02-17	2009-09-28		ENSG00000169116	ENSG00000169116			24536	protein-coding gene	gene with protein product	"""Prostatic androgen-repressed message 1"", ""Castration-induced prostatic apoptosis-related protein 1"", ""WSC4, cell wall integrity and stress response component 4 homolog (S. cerevisiae)"""					10499539, 12772192, 18027867	Standard	NM_015393		Approved	DKFZP564O0823, Cipar1, WSC4	uc003hih.2	Q6UWI2	OTTHUMG00000160827	ENST00000307428.7:c.425C>A	4.37:g.75938016C>A	ENSP00000370224:p.Ala142Asp					PARM1_ENST00000513238.1_Intron|RP11-44F21.2_ENST00000513770.1_RNA	p.A142D	NM_015393.3	NP_056208.2	Q6UWI2	PARM1_HUMAN			2	637	+			142					B3KMQ9|Q96DV8|Q9Y4S1	Missense_Mutation	SNP	ENST00000307428.7	37	c.425C>A	CCDS47077.1	.	.	.	.	.	.	.	.	.	.	C	4.492	0.091230	0.08632	.	.	ENSG00000169116	ENST00000307428	T	0.70986	-0.53	4.24	3.39	0.38822	.	0.868329	0.09866	N	0.745566	T	0.47581	0.1453	N	0.08118	0	0.09310	N	1	B	0.26195	0.144	B	0.21546	0.035	T	0.30736	-0.9968	10	0.17832	T	0.49	-0.1572	8.3298	0.32180	0.0:0.8864:0.0:0.1136	.	142	Q6UWI2	PARM1_HUMAN	D	142	ENSP00000370224:A142D	ENSP00000370224:A142D	A	+	2	0	PARM1	76157040	0.000000	0.05858	0.001000	0.08648	0.001000	0.01503	0.815000	0.27253	0.898000	0.36418	0.563000	0.77884	GCT		0.572	PARM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362494.1	NM_015393		22	245	1	0	4.35082e-09	1	4.56836e-09	22	245				
ADAMTS19	171019	broad.mit.edu	37	5	129070795	129070795	+	Silent	SNP	C	C	G			TCGA-HT-A61C-01A-11D-A29Q-08	TCGA-HT-A61C-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afbb1eaf-692a-4f24-8d59-049b4f6c59dc	03f58553-7605-4ed2-ace0-6ce09e76087d	g.chr5:129070795C>G	ENST00000274487.4	+	22	3610	c.3465C>G	c.(3463-3465)ccC>ccG	p.P1155P	CTC-575N7.1_ENST00000503616.1_RNA	NM_133638.3	NP_598377.3	Q8TE59	ATS19_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 19	1155						proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6)	91		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)		TAACATCACCCAGACTGGGTA	0.338																																						ENST00000274487.4																			0				NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6)	91						c.(3463-3465)ccC>ccG		ADAM metallopeptidase with thrombospondin type 1 motif, 19							76.0	80.0	78.0					5																	129070795		2203	4300	6503	SO:0001819	synonymous_variant	171019				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:129070795C>G	AJ311904	CCDS4146.1	5q23.3	2009-04-27	2005-08-19		ENSG00000145808	ENSG00000145808		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17111	protein-coding gene	gene with protein product		607513	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 19"""			11867212	Standard	NM_133638		Approved		uc003kvb.1	Q8TE59	OTTHUMG00000128990	ENST00000274487.4:c.3465C>G	5.37:g.129070795C>G						CTC-575N7.1_ENST00000503616.1_RNA	p.P1155P	NM_133638.3	NP_598377.3	Q8TE59	ATS19_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)	22	3610	+		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	1155						Silent	SNP	ENST00000274487.4	37	c.3465C>G	CCDS4146.1																																																																																				0.338	ADAMTS19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250979.2	NM_133638		21	44	0	0	0	1	0	21	44				
PROL1	58503	broad.mit.edu	37	4	71275670	71275670	+	Missense_Mutation	SNP	G	G	A			TCGA-HT-A61C-01A-11D-A29Q-08	TCGA-HT-A61C-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afbb1eaf-692a-4f24-8d59-049b4f6c59dc	03f58553-7605-4ed2-ace0-6ce09e76087d	g.chr4:71275670G>A	ENST00000399575.2	+	3	799	c.625G>A	c.(625-627)Gcc>Acc	p.A209T		NM_021225.4	NP_067048.4	Q99935	PROL1_HUMAN	proline rich, lacrimal 1	209	Thr-rich.				negative regulation of endopeptidase activity (GO:0010951)|regulation of sensory perception of pain (GO:0051930)|retina homeostasis (GO:0001895)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	endopeptidase inhibitor activity (GO:0004866)|peptidase inhibitor activity (GO:0030414)			endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(3)	15		all_hematologic(202;0.196)				TCAAATTCTCGCCAACCGTCC	0.463																																						ENST00000399575.2																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|prostate(1)|skin(3)	15						c.(625-627)Gcc>Acc		proline rich, lacrimal 1							118.0	123.0	122.0					4																	71275670		2029	4187	6216	SO:0001583	missense	58503				regulation of sensory perception of pain	extracellular region	endopeptidase inhibitor activity	g.chr4:71275670G>A	S83198	CCDS43235.1	4q13.3	2011-10-28	2005-02-07		ENSG00000171199	ENSG00000171199			17279	protein-coding gene	gene with protein product		608936	"""proline rich 1"""			8670737	Standard	NM_021225		Approved	BPLP, PRL1, opiorphin	uc003hfi.3	Q99935	OTTHUMG00000160845	ENST00000399575.2:c.625G>A	4.37:g.71275670G>A	ENSP00000382485:p.Ala209Thr						p.A209T	NM_021225.4	NP_067048.4	Q99935	PROL1_HUMAN			3	799	+		all_hematologic(202;0.196)	209			Thr-rich.		A8MZ07|P85047	Missense_Mutation	SNP	ENST00000399575.2	37	c.625G>A	CCDS43235.1	.	.	.	.	.	.	.	.	.	.	A	6.485	0.457755	0.12342	.	.	ENSG00000171199	ENST00000399575	T	0.26810	1.71	2.48	-3.48	0.04739	.	.	.	.	.	T	0.06554	0.0168	N	0.02539	-0.55	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.30475	-0.9977	9	0.02654	T	1	.	4.8818	0.13683	0.2487:0.363:0.3883:0.0	.	209	Q99935	PROL1_HUMAN	T	209	ENSP00000382485:A209T	ENSP00000382485:A209T	A	+	1	0	PROL1	71310259	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.577000	0.05847	-1.329000	0.02258	-1.411000	0.01122	GCC		0.463	PROL1-001	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000362639.1	NM_021225		39	87	0	0	0	1	0	39	87				
MUC16	94025	broad.mit.edu	37	19	9076533	9076533	+	Missense_Mutation	SNP	A	A	G			TCGA-HT-A61C-01A-11D-A29Q-08	TCGA-HT-A61C-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afbb1eaf-692a-4f24-8d59-049b4f6c59dc	03f58553-7605-4ed2-ace0-6ce09e76087d	g.chr19:9076533A>G	ENST00000397910.4	-	3	11116	c.10913T>C	c.(10912-10914)aTt>aCt	p.I3638T		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	3639	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						GCTGGTTCCAATGACAGTTAT	0.448																																						ENST00000397910.4																			0				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(10912-10914)aTt>aCt		mucin 16, cell surface associated							121.0	126.0	124.0					19																	9076533		1983	4167	6150	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9076533A>G	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.10913T>C	19.37:g.9076533A>G	ENSP00000381008:p.Ile3638Thr						p.I3638T	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			3	11116	-			3639			Thr-rich.		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.10913T>C	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	a	0.893	-0.724798	0.03158	.	.	ENSG00000181143	ENST00000397910	T	0.02709	4.19	2.03	-4.07	0.03975	.	.	.	.	.	T	0.01661	0.0053	N	0.08118	0	.	.	.	B	0.02656	0.0	B	0.04013	0.001	T	0.43147	-0.9409	8	0.87932	D	0	.	8.0724	0.30697	0.7034:0.0:0.2966:0.0	.	3638	B5ME49	.	T	3638	ENSP00000381008:I3638T	ENSP00000381008:I3638T	I	-	2	0	MUC16	8937533	0.000000	0.05858	0.000000	0.03702	0.049000	0.14656	-3.511000	0.00446	-1.299000	0.02344	-1.843000	0.00578	ATT		0.448	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		30	38	0	0	0	1	0	30	38				
PCSK6	5046	broad.mit.edu	37	15	101938646	101938646	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-A61C-01A-11D-A29Q-08	TCGA-HT-A61C-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afbb1eaf-692a-4f24-8d59-049b4f6c59dc	03f58553-7605-4ed2-ace0-6ce09e76087d	g.chr15:101938646C>T	ENST00000348070.1	-	8	955	c.956G>A	c.(955-957)cGa>cAa	p.R319Q	PCSK6_ENST00000561177.1_5'UTR|PCSK6_ENST00000398181.2_Missense_Mutation_p.R319Q|PCSK6_ENST00000358417.3_Missense_Mutation_p.R319Q|PCSK6_ENST00000344273.2_Missense_Mutation_p.R319Q|PCSK6_ENST00000331826.7_Missense_Mutation_p.R154Q	NM_002570.3|NM_138320.1	NP_002561.1|NP_612193.1	P29122	PCSK6_HUMAN	proprotein convertase subtilisin/kexin type 6	320	Peptidase S8.				determination of left/right symmetry (GO:0007368)|glycoprotein metabolic process (GO:0009100)|nerve growth factor processing (GO:0032455)|nerve growth factor production (GO:0032902)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptide hormone processing (GO:0016486)|protein processing (GO:0016485)|regulation of BMP signaling pathway (GO:0030510)|secretion by cell (GO:0032940)|zygotic determination of anterior/posterior axis, embryo (GO:0007354)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|membrane (GO:0016020)	endopeptidase activity (GO:0004175)|heparin binding (GO:0008201)|nerve growth factor binding (GO:0048406)|serine-type endopeptidase activity (GO:0004252)			breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Lung NSC(78;0.00102)|all_lung(78;0.00128)|Melanoma(26;0.00505)		OV - Ovarian serous cystadenocarcinoma(32;0.000803)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			CTTAGCCAGTCGGCCGGGCCC	0.567																																						ENST00000348070.1																			0				breast(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(17)|pancreas(2)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						c.(955-957)cGa>cAa		proprotein convertase subtilisin/kexin type 6							106.0	114.0	111.0					15																	101938646		1976	4194	6170	SO:0001583	missense	5046				glycoprotein metabolic process|nerve growth factor processing|nerve growth factor production|nerve growth factor receptor signaling pathway|regulation of BMP signaling pathway|secretion by cell	cell surface|endomembrane system|endoplasmic reticulum|extracellular matrix|extracellular space|Golgi lumen|membrane|soluble fraction	eukaryotic cell surface binding|heparin binding|nerve growth factor binding|serine-type endopeptidase activity	g.chr15:101938646C>T		CCDS73789.1, CCDS73790.1, CCDS73791.1, CCDS73792.1, CCDS73793.1	15q26	2008-07-18	2004-06-14	2004-06-16		ENSG00000140479			8569	protein-coding gene	gene with protein product	"""subtilisin-like protease"", ""subtilisin-like proprotein convertase 4"", ""subtilisin/kexin-like protease PACE4"""	167405	"""paired basic amino acid cleaving system 4"""	PACE4		1741956	Standard	NM_002570		Approved	SPC4	uc002bwy.3	P29122		ENST00000348070.1:c.956G>A	15.37:g.101938646C>T	ENSP00000305056:p.Arg319Gln					PCSK6_ENST00000358417.3_Missense_Mutation_p.R319Q|PCSK6_ENST00000561177.1_5'UTR|PCSK6_ENST00000344273.2_Missense_Mutation_p.R319Q|PCSK6_ENST00000398181.2_Missense_Mutation_p.R319Q|PCSK6_ENST00000331826.7_Missense_Mutation_p.R154Q	p.R319Q	NM_002570.3|NM_138320.1	NP_002561.1|NP_612193.1	P29122	PCSK6_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.000803)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)		8	955	-	Lung NSC(78;0.00102)|all_lung(78;0.00128)|Melanoma(26;0.00505)		320			Catalytic.		Q15099|Q15100|Q9UEG7|Q9UEJ1|Q9UEJ2|Q9UEJ7|Q9UEJ8|Q9UEJ9|Q9Y4G9|Q9Y4H0|Q9Y4H1	Missense_Mutation	SNP	ENST00000348070.1	37	c.956G>A		.	.	.	.	.	.	.	.	.	.	C	15.81	2.942668	0.53079	.	.	ENSG00000140479	ENST00000348070;ENST00000358417;ENST00000398185;ENST00000344273;ENST00000398181;ENST00000331826	D;D;D;D;D	0.87334	-2.24;-2.24;-2.24;-2.24;-2.24	5.19	4.28	0.50868	Peptidase S8/S53, subtilisin/kexin/sedolisin (3);	0.282682	0.33235	N	0.005136	T	0.78123	0.4234	N	0.04768	-0.165	0.26786	N	0.969506	D;P;P;P;P;P;P;D;P	0.76494	0.999;0.791;0.71;0.851;0.78;0.923;0.946;0.965;0.878	P;B;B;B;B;B;B;B;B	0.56788	0.806;0.077;0.134;0.048;0.08;0.134;0.12;0.249;0.246	T	0.67856	-0.5562	10	0.18710	T	0.47	-12.2574	4.6127	0.12411	0.1626:0.6145:0.1393:0.0836	.	320;225;319;320;319;319;320;320;319	P29122;Q59H04;E7EUC8;P29122-4;E7EWH5;E7EQ62;P29122-8;P29122-7;E7EM82	PCSK6_HUMAN;.;.;.;.;.;.;.;.	Q	319;319;224;319;319;154	ENSP00000305056:R319Q;ENSP00000351193:R319Q;ENSP00000344410:R319Q;ENSP00000381243:R319Q;ENSP00000332052:R154Q	ENSP00000332052:R154Q	R	-	2	0	PCSK6	99756169	0.836000	0.29430	0.799000	0.32177	0.578000	0.36192	1.298000	0.33412	1.318000	0.45170	0.655000	0.94253	CGA		0.567	PCSK6-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_002570		90	139	0	0	0	1	0	90	139				
MYH2	4620	broad.mit.edu	37	17	10432347	10432347	+	Missense_Mutation	SNP	C	C	T	rs151164070		TCGA-HT-A61C-01A-11D-A29Q-08	TCGA-HT-A61C-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afbb1eaf-692a-4f24-8d59-049b4f6c59dc	03f58553-7605-4ed2-ace0-6ce09e76087d	g.chr17:10432347C>T	ENST00000245503.5	-	27	3788	c.3404G>A	c.(3403-3405)cGg>cAg	p.R1135Q	CTC-297N7.11_ENST00000587182.2_RNA|MYH2_ENST00000532183.2_Intron|RP11-799N11.1_ENST00000581304.1_RNA|MYH2_ENST00000397183.2_Missense_Mutation_p.R1135Q|RP11-799N11.1_ENST00000399342.2_RNA	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN	myosin, heavy chain 2, skeletal muscle, adult	1135					Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|membrane organization (GO:0061024)|metabolic process (GO:0008152)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|plasma membrane repair (GO:0001778)|response to activity (GO:0014823)	A band (GO:0031672)|actomyosin contractile ring (GO:0005826)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin filament (GO:0032982)|protein complex (GO:0043234)|sarcomere (GO:0030017)	ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						TGCTTTGGCCCGGGAGGCCCG	0.592													c|||	1	0.000199681	0.0	0.0	5008	,	,		17164	0.0		0.0	False		,,,				2504	0.001					ENST00000245503.5																			0				NS(1)|biliary_tract(1)|breast(9)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(16)|lung(99)|ovary(6)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(4)	176						c.(3403-3405)cGg>cAg		myosin, heavy chain 2, skeletal muscle, adult		C	GLN/ARG,GLN/ARG	0,4398		0,0,2199	36.0	42.0	40.0		3404,3404	5.1	1.0	17	dbSNP_134	40	1,8579		0,1,4289	no	missense,missense	MYH2	NM_001100112.1,NM_017534.5	43,43	0,1,6488	TT,TC,CC		0.0117,0.0,0.0077	probably-damaging,probably-damaging	1135/1942,1135/1942	10432347	1,12977	2199	4290	6489	SO:0001583	missense	4620				muscle filament sliding	muscle myosin complex|myosin filament|sarcomere	actin binding|ATP binding|calmodulin binding|microfilament motor activity|structural constituent of muscle	g.chr17:10432347C>T		CCDS11156.1	17p13.1	2014-02-04	2006-09-29		ENSG00000125414	ENSG00000125414		"""Myosins / Myosin superfamily : Class II"""	7572	protein-coding gene	gene with protein product		160740	"""myosin, heavy polypeptide 2, skeletal muscle, adult"", ""inclusion body myopathy 3, autosomal dominant"""	IBM3		7545970, 11889243	Standard	NM_001100112		Approved	MYH2A, MYHSA2, MyHC-IIa, MYHas8, MyHC-2A	uc010coi.3	Q9UKX2	OTTHUMG00000130363	ENST00000245503.5:c.3404G>A	17.37:g.10432347C>T	ENSP00000245503:p.Arg1135Gln					MYH2_ENST00000532183.1_Intron|CTC-297N7.7_ENST00000581304.1_RNA|MYH2_ENST00000397183.2_Missense_Mutation_p.R1135Q|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000399342.2_RNA	p.R1135Q	NM_017534.5	NP_060004.3	Q9UKX2	MYH2_HUMAN			27	3788	-			1135					A0AVL4|Q14322|Q16229|Q567P6|Q86T56	Missense_Mutation	SNP	ENST00000245503.5	37	c.3404G>A	CCDS11156.1	.	.	.	.	.	.	.	.	.	.	C	33	5.214445	0.95104	0.0	1.17E-4	ENSG00000125414	ENST00000245503;ENST00000397183	D;D	0.91407	-2.84;-2.84	5.09	5.09	0.68999	Myosin tail (1);	0.000000	0.36628	U	0.002483	D	0.97068	0.9042	H	0.96633	3.855	0.51233	D	0.999914	D	0.76494	0.999	D	0.71870	0.975	D	0.98229	1.0482	10	0.87932	D	0	.	18.6832	0.91554	0.0:1.0:0.0:0.0	.	1135	Q9UKX2	MYH2_HUMAN	Q	1135	ENSP00000245503:R1135Q;ENSP00000380367:R1135Q	ENSP00000245503:R1135Q	R	-	2	0	MYH2	10373072	1.000000	0.71417	0.996000	0.52242	0.996000	0.88848	7.350000	0.79385	2.660000	0.90430	0.591000	0.81541	CGG		0.592	MYH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252726.3	NM_017534		36	69	0	0	0	1	0	36	69				
EIF5	1983	broad.mit.edu	37	14	103802435	103802435	+	Silent	SNP	G	G	A			TCGA-HT-A61C-01A-11D-A29Q-08	TCGA-HT-A61C-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afbb1eaf-692a-4f24-8d59-049b4f6c59dc	03f58553-7605-4ed2-ace0-6ce09e76087d	g.chr14:103802435G>A	ENST00000216554.3	+	4	811	c.135G>A	c.(133-135)gcG>gcA	p.A45A	EIF5_ENST00000560200.1_Intron|EIF5_ENST00000558506.1_Silent_p.A45A|EIF5_ENST00000392715.2_Silent_p.A45A|SNORA28_ENST00000606769.1_RNA	NM_001969.4	NP_001960.2	P55010	IF5_HUMAN	eukaryotic translation initiation factor 5	45					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|GTP catabolic process (GO:0006184)|regulation of translational initiation (GO:0006446)|translation (GO:0006412)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)			breast(3)|kidney(2)|large_intestine(3)|lung(5)|pancreas(2)|skin(2)|upper_aerodigestive_tract(1)	18		Melanoma(154;0.155)	Epithelial(46;0.182)			TTGCAAAGGCGCTTAATCGGC	0.408																																						ENST00000216554.3																			0				breast(3)|kidney(2)|large_intestine(3)|lung(5)|pancreas(2)|skin(2)|upper_aerodigestive_tract(1)	18						c.(133-135)gcG>gcA		eukaryotic translation initiation factor 5							63.0	56.0	59.0					14																	103802435		2203	4300	6503	SO:0001819	synonymous_variant	1983				regulation of translational initiation|RNA metabolic process	cytosol	GTP binding|GTPase activity|translation initiation factor activity	g.chr14:103802435G>A	U49436	CCDS9980.1	14q32.32	2006-05-11				ENSG00000100664			3299	protein-coding gene	gene with protein product		601710				8663286	Standard	NM_001969		Approved		uc001ymq.4	P55010		ENST00000216554.3:c.135G>A	14.37:g.103802435G>A						EIF5_ENST00000558506.1_Silent_p.A45A|EIF5_ENST00000560200.1_Intron|EIF5_ENST00000392715.2_Silent_p.A45A	p.A45A	NM_001969.4	NP_001960.2	P55010	IF5_HUMAN	Epithelial(46;0.182)		4	811	+		Melanoma(154;0.155)	45					Q53XB3|Q9H5N2|Q9UG48	Silent	SNP	ENST00000216554.3	37	c.135G>A	CCDS9980.1																																																																																				0.408	EIF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415329.2	NM_001969		18	6	0	0	0	1	0	18	6				
MYH11	4629	broad.mit.edu	37	16	15870006	15870006	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-A61C-01A-11D-A29Q-08	TCGA-HT-A61C-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afbb1eaf-692a-4f24-8d59-049b4f6c59dc	03f58553-7605-4ed2-ace0-6ce09e76087d	g.chr16:15870006C>T	ENST00000300036.5	-	8	927	c.818G>A	c.(817-819)cGc>cAc	p.R273H	MYH11_ENST00000452625.2_Missense_Mutation_p.R280H|MYH11_ENST00000396324.3_Missense_Mutation_p.R280H|MYH11_ENST00000576790.2_Missense_Mutation_p.R273H	NM_002474.2	NP_002465.1	P35749	MYH11_HUMAN	myosin, heavy chain 11, smooth muscle	273	Myosin motor.				axon guidance (GO:0007411)|cardiac muscle fiber development (GO:0048739)|elastic fiber assembly (GO:0048251)|muscle contraction (GO:0006936)|skeletal muscle myosin thick filament assembly (GO:0030241)|smooth muscle contraction (GO:0006939)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|smooth muscle contractile fiber (GO:0030485)|stress fiber (GO:0001725)	ATP binding (GO:0005524)|motor activity (GO:0003774)|structural constituent of muscle (GO:0008307)			NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						TCTGGCTTGGCGAATTGCCCG	0.488			T	CBFB	AML																																	ENST00000338282.6				Dom	yes		16	16p13.13-p13.12	4629	T	"""myosin, heavy polypeptide 11, smooth muscle"""			L	CBFB		AML		0				NS(2)|breast(7)|central_nervous_system(1)|endometrium(11)|kidney(5)|large_intestine(34)|liver(1)|lung(37)|ovary(9)|pancreas(1)|prostate(7)|skin(7)|upper_aerodigestive_tract(1)	123						c.(817-819)cGc>cAc		myosin, heavy chain 11, smooth muscle							314.0	287.0	296.0					16																	15870006		2197	4300	6497	SO:0001583	missense	4629				axon guidance|cardiac muscle fiber development|elastic fiber assembly|skeletal muscle myosin thick filament assembly|smooth muscle contraction	cytosol|melanosome|muscle myosin complex|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle	g.chr16:15870006C>T	X69292	CCDS10565.1, CCDS10566.1, CCDS45423.1, CCDS45424.1	16p13.11	2011-09-27	2006-09-29		ENSG00000133392	ENSG00000133392		"""Myosins / Myosin superfamily : Class II"""	7569	protein-coding gene	gene with protein product		160745	"""myosin, heavy polypeptide 11, smooth muscle"""			7684189	Standard	NM_001040113		Approved	SMMHC, SMHC	uc002ddx.3	P35749	OTTHUMG00000129935	ENST00000300036.5:c.818G>A	16.37:g.15870006C>T	ENSP00000300036:p.Arg273His					MYH11_ENST00000452625.2_Missense_Mutation_p.R280H|MYH11_ENST00000300036.5_Missense_Mutation_p.R273H|MYH11_ENST00000396324.3_Missense_Mutation_p.R280H|MYH11_ENST00000576790.1_Missense_Mutation_p.R273H	p.R273H	NM_022844.2	NP_074035.1	P35749	MYH11_HUMAN			8	924	-			273			Myosin head-like.		D2JYH7|O00396|O94944|P78422|Q3MIV8|Q3MNF0|Q3MNF1	Missense_Mutation	SNP	ENST00000300036.5	37	c.818G>A	CCDS10565.1	.	.	.	.	.	.	.	.	.	.	C	33	5.232322	0.95207	.	.	ENSG00000133392	ENST00000300036;ENST00000338282;ENST00000396320;ENST00000396324;ENST00000452625	D;D;D;D	0.87650	-2.28;-2.28;-2.28;-2.28	5.9	5.9	0.94986	Myosin head, motor domain (2);	0.000000	0.85682	D	0.000000	D	0.92652	0.7665	M	0.67397	2.05	0.80722	D	1	D;D;B;D;B	0.71674	0.989;0.998;0.235;0.998;0.007	D;D;B;D;B	0.67900	0.954;0.926;0.051;0.926;0.12	D	0.92488	0.5998	10	0.62326	D	0.03	.	18.8389	0.92174	0.0:1.0:0.0:0.0	.	280;273;280;273;280	B1PS43;P35749;Q3MNF1;Q3MIV8;Q3MNF0	.;MYH11_HUMAN;.;.;.	H	273;273;280;280;280	ENSP00000300036:R273H;ENSP00000345136:R273H;ENSP00000379616:R280H;ENSP00000407821:R280H	ENSP00000300036:R273H	R	-	2	0	MYH11	15777507	1.000000	0.71417	1.000000	0.80357	0.578000	0.36192	5.830000	0.69324	2.800000	0.96347	0.455000	0.32223	CGC		0.488	MYH11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252192.2	NM_001040113		68	111	0	0	0	1	0	68	111				
LINC00969	440993	broad.mit.edu	37	3	195410640	195410640	+	lincRNA	SNP	T	T	C	rs6583273	byFrequency	TCGA-HT-A61C-01A-11D-A29Q-08	TCGA-HT-A61C-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afbb1eaf-692a-4f24-8d59-049b4f6c59dc	03f58553-7605-4ed2-ace0-6ce09e76087d	g.chr3:195410640T>C	ENST00000445430.1	+	0	1837									long intergenic non-protein coding RNA 969																		TTGATGAGTATGATCACTCCA	0.468																																						ENST00000445430.1																			0																																																			0							g.chr3:195410640T>C	AK128346		3q29	2013-06-07			ENSG00000242086	ENSG00000242086		"""Long non-coding RNAs"""	48729	non-coding RNA	RNA, long non-coding							Standard	XR_427455		Approved				OTTHUMG00000155834		3.37:g.195410640T>C														0	1837	+									RNA	SNP	ENST00000445430.1	37																																																																																						0.468	LINC00969-038	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000341951.1			5	24	0	0	0	1	0	5	24				
MET	4233	broad.mit.edu	37	7	116395440	116395440	+	Missense_Mutation	SNP	G	G	C			TCGA-HT-A61C-01A-11D-A29Q-08	TCGA-HT-A61C-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afbb1eaf-692a-4f24-8d59-049b4f6c59dc	03f58553-7605-4ed2-ace0-6ce09e76087d	g.chr7:116395440G>C	ENST00000318493.6	+	6	1920	c.1733G>C	c.(1732-1734)gGg>gCg	p.G578A	MET_ENST00000436117.2_Missense_Mutation_p.G578A|MET_ENST00000495962.1_3'UTR|MET_ENST00000397752.3_Missense_Mutation_p.G578A			Q9NWH9	SLTM_HUMAN	MET proto-oncogene, receptor tyrosine kinase	0	Arg/Glu-rich.				apoptotic process (GO:0006915)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			NS(10)|breast(4)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(25)|large_intestine(8)|liver(3)|lung(70)|ovary(10)|pleura(2)|prostate(4)|skin(5)|stomach(6)|testis(1)|thyroid(4)|upper_aerodigestive_tract(64)|urinary_tract(3)	233	all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)	Ovarian(593;0.133)	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)			CTTGAAGGAGGGACAAGGCTG	0.368			Mis		"""papillary renal, head-neck squamous cell """	papillary renal			Hereditary Papillary Renal Carcinoma (type 1)																													ENST00000397752.3				Dom	yes	Familial Papillary Renal Cancer	7	7q31	4233	Mis	met proto-oncogene (hepatocyte growth factor receptor)			E		papillary renal	"""papillary renal, head-neck squamous cell """		0				NS(10)|breast(4)|central_nervous_system(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(5)|kidney(25)|large_intestine(8)|liver(3)|lung(70)|ovary(10)|pleura(2)|prostate(4)|skin(5)|stomach(6)|testis(1)|thyroid(4)|upper_aerodigestive_tract(64)|urinary_tract(3)	233						c.(1732-1734)gGg>gCg		met proto-oncogene							89.0	84.0	85.0					7																	116395440		1808	4081	5889	SO:0001583	missense	0	Hereditary Papillary Renal Carcinoma (type 1)	Familial Cancer Database	HPRC, Hereditary Papillary Renal Cell Cancer	axon guidance|cell proliferation	basal plasma membrane|integral to plasma membrane	ATP binding|hepatocyte growth factor receptor activity|protein binding	g.chr7:116395440G>C	M35073	CCDS43636.1, CCDS47689.1	7q31	2014-09-17	2014-06-26		ENSG00000105976	ENSG00000105976	2.7.10.1		7029	protein-coding gene	gene with protein product	"""hepatocyte growth factor receptor"""	164860	"""met proto-oncogene"""			1846706, 1611909	Standard	NM_001127500		Approved	HGFR, RCCP2	uc010lkh.3	P08581	OTTHUMG00000023299	ENST00000318493.6:c.1733G>C	7.37:g.116395440G>C	ENSP00000317272:p.Gly578Ala					MET_ENST00000318493.6_Missense_Mutation_p.G578A|MET_ENST00000436117.2_Missense_Mutation_p.G578A|MET_ENST00000495962.1_3'UTR	p.G578A	NM_000245.2|NM_001127500.1	NP_000236.2|NP_001120972.1	P08581	MET_HUMAN	GBM - Glioblastoma multiforme(2;2.31e-07)|all cancers(2;0.000419)|STAD - Stomach adenocarcinoma(10;0.000512)		6	1933	+	all_cancers(3;1.25e-07)|all_epithelial(6;4.07e-08)|Lung NSC(10;0.00108)|all_lung(10;0.00125)	Ovarian(593;0.133)	578			IPT/TIG 1.		A8K5V8|B2RTX3|Q2VPK7|Q52MB3|Q658J7|Q6ZNF2|Q86TK6|Q9H7C3|Q9H8U9	Missense_Mutation	SNP	ENST00000318493.6	37	c.1733G>C	CCDS47689.1	.	.	.	.	.	.	.	.	.	.	G	17.10	3.302922	0.60195	.	.	ENSG00000105976	ENST00000397752;ENST00000318493;ENST00000436117	D;D;D	0.86497	-2.13;-2.13;-2.13	5.93	5.93	0.95920	Cell surface receptor IPT/TIG (2);Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.210069	0.51477	D	0.000081	D	0.93884	0.8043	M	0.89095	3.005	0.80722	D	1	D;D;D;D;D;D;P;D	0.71674	0.998;0.971;0.995;0.989;0.99;0.995;0.798;0.997	P;P;P;D;P;D;P;D	0.64042	0.905;0.877;0.897;0.92;0.897;0.92;0.539;0.921	D	0.94289	0.7527	10	0.66056	D	0.02	-13.8616	15.9036	0.79403	0.0:0.0:0.8643:0.1357	.	578;578;578;578;550;578;578;578	B5A929;E7EQ94;B5A930;B5A934;B5A936;B5A937;P08581-2;P08581	.;.;.;.;.;.;.;MET_HUMAN	A	578	ENSP00000380860:G578A;ENSP00000317272:G578A;ENSP00000410980:G578A	ENSP00000317272:G578A	G	+	2	0	MET	116182676	1.000000	0.71417	1.000000	0.80357	0.516000	0.34256	5.062000	0.64326	2.826000	0.97356	0.655000	0.94253	GGG		0.368	MET-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059620.3			434	995	0	0	0	1	0	434	995				
KCNMB2	10242	broad.mit.edu	37	3	178543531	178543531	+	Missense_Mutation	SNP	G	G	A	rs553808917		TCGA-HT-A61C-01A-11D-A29Q-08	TCGA-HT-A61C-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afbb1eaf-692a-4f24-8d59-049b4f6c59dc	03f58553-7605-4ed2-ace0-6ce09e76087d	g.chr3:178543531G>A	ENST00000432997.1	+	3	564	c.212G>A	c.(211-213)cGc>cAc	p.R71H	RP11-385J1.2_ENST00000451742.1_RNA|KCNMB2_ENST00000420517.2_Missense_Mutation_p.R71H|KCNMB2_ENST00000358316.3_Missense_Mutation_p.R71H|KCNMB2_ENST00000452583.1_Missense_Mutation_p.R71H|RP11-385J1.2_ENST00000437488.1_RNA|RP11-385J1.2_ENST00000432385.1_RNA|RP11-385J1.2_ENST00000425330.1_RNA	NM_001278911.1	NP_001265840.1	Q9NPA1	KCMB3_HUMAN	potassium large conductance calcium-activated channel, subfamily M, beta member 2	82					action potential (GO:0001508)|blood coagulation (GO:0007596)|detection of calcium ion (GO:0005513)|neuronal action potential (GO:0019228)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	calcium-activated potassium channel activity (GO:0015269)|potassium channel regulator activity (GO:0015459)			NS(2)|endometrium(4)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	12	all_cancers(143;5.38e-18)|Ovarian(172;0.00769)|Breast(254;0.125)		OV - Ovarian serous cystadenocarcinoma(80;1.32e-27)|GBM - Glioblastoma multiforme(14;0.0321)|BRCA - Breast invasive adenocarcinoma(182;0.0841)		Miconazole(DB01110)|Procaine(DB00721)	ACACTCCTGCGCTCATACATG	0.532																																						ENST00000432997.1																			0				NS(2)|endometrium(4)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	12						c.(211-213)cGc>cAc		potassium large conductance calcium-activated channel, subfamily M, beta member 2							192.0	179.0	183.0					3																	178543531		2203	4300	6503	SO:0001583	missense	10242				detection of calcium ion|platelet activation|regulation of action potential in neuron|regulation of vasoconstriction	voltage-gated potassium channel complex	calcium-activated potassium channel activity|ion channel inhibitor activity|potassium channel regulator activity	g.chr3:178543531G>A	AF099137	CCDS3223.1	3q26.32	2005-10-13			ENSG00000197584	ENSG00000197584		"""Potassium channels"""	6286	protein-coding gene	gene with protein product		605214				10097176	Standard	NM_181361		Approved		uc003fjd.3	Q9Y691	OTTHUMG00000157264	ENST00000432997.1:c.212G>A	3.37:g.178543531G>A	ENSP00000407592:p.Arg71His					KCNMB2_ENST00000358316.3_Missense_Mutation_p.R71H|KCNMB2_ENST00000420517.2_Missense_Mutation_p.R71H|KCNMB2_ENST00000452583.1_Missense_Mutation_p.R71H|RP11-385J1.2_ENST00000451742.1_RNA|RP11-385J1.2_ENST00000432385.1_RNA|RP11-385J1.2_ENST00000425330.1_RNA|RP11-385J1.2_ENST00000437488.1_RNA	p.R71H	NM_005832.3	NP_005823.1	Q9Y691	KCMB2_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;1.32e-27)|GBM - Glioblastoma multiforme(14;0.0321)|BRCA - Breast invasive adenocarcinoma(182;0.0841)		3	564	+	all_cancers(143;5.38e-18)|Ovarian(172;0.00769)|Breast(254;0.125)		71					B7Z9C9|D3DNR2|E9PER5|Q9NPG7|Q9NRM9|Q9UHN3	Missense_Mutation	SNP	ENST00000432997.1	37	c.212G>A	CCDS3223.1	.	.	.	.	.	.	.	.	.	.	G	22.2	4.261180	0.80246	.	.	ENSG00000197584	ENST00000437510;ENST00000420517;ENST00000452583;ENST00000432997;ENST00000455865;ENST00000358316;ENST00000457763	T;T;T;T;T;T	0.10573	2.86;2.86;2.86;2.86;2.86;2.86	5.39	5.39	0.77823	.	0.000000	0.85682	D	0.000000	T	0.16385	0.0394	L	0.40543	1.245	0.80722	D	1	P	0.47677	0.899	P	0.47015	0.534	T	0.00494	-1.1706	10	0.48119	T	0.1	-11.7687	19.1488	0.93479	0.0:0.0:1.0:0.0	.	71	Q9Y691	KCMB2_HUMAN	H	71;71;71;71;71;71;52	ENSP00000395807:R71H;ENSP00000408252:R71H;ENSP00000397483:R71H;ENSP00000407592:R71H;ENSP00000399100:R71H;ENSP00000351068:R71H	ENSP00000351068:R71H	R	+	2	0	KCNMB2	180026225	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	7.529000	0.81952	2.538000	0.85594	0.655000	0.94253	CGC		0.532	KCNMB2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348251.1	NM_181361		74	120	0	0	0	1	0	74	120				
GFRA2	2675	broad.mit.edu	37	8	21608324	21608324	+	Silent	SNP	C	C	T	rs536103646		TCGA-HT-A61C-01A-11D-A29Q-08	TCGA-HT-A61C-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afbb1eaf-692a-4f24-8d59-049b4f6c59dc	03f58553-7605-4ed2-ace0-6ce09e76087d	g.chr8:21608324C>T	ENST00000524240.1	-	4	1220	c.570G>A	c.(568-570)tcG>tcA	p.S190S	GFRA2_ENST00000400782.4_Silent_p.S85S|GFRA2_ENST00000517328.1_Silent_p.S190S|GFRA2_ENST00000518077.1_Silent_p.S57S	NM_001495.4	NP_001486.4	O00451	GFRA2_HUMAN	GDNF family receptor alpha 2	190					negative regulation of protein autophosphorylation (GO:0031953)|nervous system development (GO:0007399)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	anchored component of membrane (GO:0031225)|extrinsic component of membrane (GO:0019898)|plasma membrane (GO:0005886)	glial cell-derived neurotrophic factor receptor activity (GO:0016167)			NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|prostate(1)|skin(1)	7				Colorectal(74;0.0189)|COAD - Colon adenocarcinoma(73;0.0727)		GCTCGGTGGGCGAGATCTCGC	0.607													C|||	1	0.000199681	0.0	0.0014	5008	,	,		18088	0.0		0.0	False		,,,				2504	0.0					ENST00000524240.1																			0				NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|prostate(1)|skin(1)	7						c.(568-570)tcG>tcA		GDNF family receptor alpha 2							48.0	58.0	55.0					8																	21608324		2193	4296	6489	SO:0001819	synonymous_variant	2675					anchored to membrane|extrinsic to membrane|plasma membrane	glial cell-derived neurotrophic factor receptor activity	g.chr8:21608324C>T	AF002700	CCDS47816.1, CCDS55207.1	8p21.3	2008-05-02			ENSG00000168546	ENSG00000168546			4244	protein-coding gene	gene with protein product		601956				9177201	Standard	NM_001165038		Approved	RETL2, GDNFRB, NTNRA, TRNR2	uc003wzu.1	O00451	OTTHUMG00000163897	ENST00000524240.1:c.570G>A	8.37:g.21608324C>T						GFRA2_ENST00000518077.1_Silent_p.S57S|GFRA2_ENST00000517328.1_Silent_p.S190S|GFRA2_ENST00000400782.4_Silent_p.S85S	p.S190S	NM_001495.4	NP_001486.4	O00451	GFRA2_HUMAN		Colorectal(74;0.0189)|COAD - Colon adenocarcinoma(73;0.0727)	4	1220	-			190					E9PD47|O15316|O15328|Q58J92|Q6GTR9|Q7Z5C2	Silent	SNP	ENST00000524240.1	37	c.570G>A	CCDS47816.1																																																																																				0.607	GFRA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376254.3	NM_001495		36	52	0	0	0	1	0	36	52				
NAA20	51126	broad.mit.edu	37	20	19998065	19998065	+	Missense_Mutation	SNP	T	T	A			TCGA-HT-A61C-01A-11D-A29Q-08	TCGA-HT-A61C-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afbb1eaf-692a-4f24-8d59-049b4f6c59dc	03f58553-7605-4ed2-ace0-6ce09e76087d	g.chr20:19998065T>A	ENST00000334982.4	+	1	306	c.25T>A	c.(25-27)Tgc>Agc	p.C9S	NAA20_ENST00000398602.2_5'UTR|NAA20_ENST00000484480.1_3'UTR|NAA20_ENST00000310450.4_Missense_Mutation_p.C9S	NM_016100.4	NP_057184.1	P61599	NAA20_HUMAN	N(alpha)-acetyltransferase 20, NatB catalytic subunit	9	N-acetyltransferase. {ECO:0000255|PROSITE-ProRule:PRU00532}.					cytoplasm (GO:0005737)|intracellular (GO:0005622)|nucleus (GO:0005634)	peptide alpha-N-acetyltransferase activity (GO:0004596)			endometrium(3)|lung(2)|prostate(1)	6						GGCCTTTACCTGCGACGACCT	0.716																																						ENST00000334982.4																			0				endometrium(3)|lung(2)|prostate(1)	6						c.(25-27)Tgc>Agc		N(alpha)-acetyltransferase 20, NatB catalytic subunit							28.0	25.0	26.0					20																	19998065		2202	4294	6496	SO:0001583	missense	51126					cytoplasm|nucleus	peptide alpha-N-acetyltransferase activity	g.chr20:19998065T>A	AF085355	CCDS13141.1, CCDS13142.1, CCDS42854.1	20p11.23	2010-05-07	2010-01-14	2010-01-14	ENSG00000173418	ENSG00000173418	2.3.1.88	"""N(alpha)-acetyltransferase subunits"""	15908	protein-coding gene	gene with protein product	"""N-acetyltransferase 3 homolog (S. cerevisiae)"""	610833	"""N-acetyltransferase 5, ARD1 subunit (arrest-defective 1, S. cerevisiae, homolog)"", ""N-acetyltransferase 5 (ARD1 homolog, S. cerevisiae)"", ""N-acetyltransferase 5"", ""N-acetyltransferase 5 (GCN5-related, putative)"""	NAT5		12888564, 19660095	Standard	NM_016100		Approved	dJ1002M8.1, NAT3	uc002wrp.3	P61599	OTTHUMG00000031998	ENST00000334982.4:c.25T>A	20.37:g.19998065T>A	ENSP00000335636:p.Cys9Ser					NAA20_ENST00000310450.4_Missense_Mutation_p.C9S|NAA20_ENST00000398602.2_5'UTR|NAA20_ENST00000484480.1_3'UTR	p.C9S	NM_016100.4	NP_057184.1	P61599	NAA20_HUMAN			1	306	+			9			N-acetyltransferase.		A6NHA3|B2R4G4|Q5TFT7|Q9D7H8|Q9H0Y4|Q9NQH6|Q9Y6D2	Missense_Mutation	SNP	ENST00000334982.4	37	c.25T>A	CCDS13141.1	.	.	.	.	.	.	.	.	.	.	T	22.7	4.330353	0.81690	.	.	ENSG00000173418	ENST00000334982;ENST00000310450	T;T	0.54071	0.61;0.59	4.29	4.29	0.51040	GCN5-related N-acetyltransferase (GNAT) domain (1);Acyl-CoA N-acyltransferase (2);	0.000000	0.85682	D	0.000000	T	0.52581	0.1743	M	0.65498	2.005	0.80722	D	1	P;B	0.43542	0.81;0.399	B;B	0.42495	0.389;0.147	T	0.55585	-0.8118	9	.	.	.	-24.1222	12.5867	0.56421	0.0:0.0:0.0:1.0	.	9;9	A6NHA3;P61599	.;NAA20_HUMAN	S	9	ENSP00000335636:C9S;ENSP00000311027:C9S	.	C	+	1	0	NAA20	19946065	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.670000	0.74467	1.796000	0.52611	0.472000	0.43445	TGC		0.716	NAA20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078217.2	NM_016100		11	27	0	0	0	1	0	11	27				
OR8K1	390157	broad.mit.edu	37	11	56113534	56113534	+	Missense_Mutation	SNP	A	A	T			TCGA-HT-A61C-01A-11D-A29Q-08	TCGA-HT-A61C-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afbb1eaf-692a-4f24-8d59-049b4f6c59dc	03f58553-7605-4ed2-ace0-6ce09e76087d	g.chr11:56113534A>T	ENST00000279783.2	+	1	114	c.20A>T	c.(19-21)cAc>cTc	p.H7L		NM_001002907.1	NP_001002907.1	Q8NGG5	OR8K1_HUMAN	olfactory receptor, family 8, subfamily K, member 1	7						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			large_intestine(8)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33	Esophageal squamous(21;0.00448)					GTGGTAAAACACAATCACACG	0.363										HNSCC(65;0.19)																												ENST00000279783.2																			0				large_intestine(8)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33						c.(19-21)cAc>cTc		olfactory receptor, family 8, subfamily K, member 1							78.0	74.0	76.0					11																	56113534		2201	4296	6497	SO:0001583	missense	390157				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56113534A>T	AB065835	CCDS31528.1	11q11	2012-08-09			ENSG00000150261	ENSG00000150261		"""GPCR / Class A : Olfactory receptors"""	14831	protein-coding gene	gene with protein product							Standard	NM_001002907		Approved		uc010rjg.2	Q8NGG5	OTTHUMG00000166858	ENST00000279783.2:c.20A>T	11.37:g.56113534A>T	ENSP00000279783:p.His7Leu	HNSCC(65;0.19)					p.H7L	NM_001002907.1	NP_001002907.1	Q8NGG5	OR8K1_HUMAN			1	114	+	Esophageal squamous(21;0.00448)		7					B9EJB1|Q6IFC3|Q96RC1	Missense_Mutation	SNP	ENST00000279783.2	37	c.20A>T	CCDS31528.1	.	.	.	.	.	.	.	.	.	.	A	12.52	1.961790	0.34659	.	.	ENSG00000150261	ENST00000279783	T	0.02763	4.17	5.19	-9.43	0.00607	.	2.863970	0.00834	N	0.001685	T	0.01124	0.0037	N	0.04805	-0.155	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.46952	-0.9154	10	0.09843	T	0.71	4.6347	1.4678	0.02409	0.5091:0.1734:0.0966:0.2209	.	7	Q8NGG5	OR8K1_HUMAN	L	7	ENSP00000279783:H7L	ENSP00000279783:H7L	H	+	2	0	OR8K1	55870110	0.000000	0.05858	0.000000	0.03702	0.045000	0.14185	-1.096000	0.03353	-1.887000	0.01115	-0.487000	0.04747	CAC		0.363	OR8K1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391605.1	NM_001002907		16	33	0	0	0	1	0	16	33				
ASPH	444	broad.mit.edu	37	8	62556552	62556552	+	Missense_Mutation	SNP	C	C	A			TCGA-HT-A61C-01A-11D-A29Q-08	TCGA-HT-A61C-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afbb1eaf-692a-4f24-8d59-049b4f6c59dc	03f58553-7605-4ed2-ace0-6ce09e76087d	g.chr8:62556552C>A	ENST00000379454.4	-	8	848	c.661G>T	c.(661-663)Gac>Tac	p.D221Y	ASPH_ENST00000445642.3_Missense_Mutation_p.D207Y|ASPH_ENST00000523897.1_5'Flank|ASPH_ENST00000356457.5_Missense_Mutation_p.D221Y|ASPH_ENST00000517847.2_Missense_Mutation_p.D207Y|ASPH_ENST00000541428.1_Missense_Mutation_p.D192Y|ASPH_ENST00000518068.1_Missense_Mutation_p.D178Y|ASPH_ENST00000522919.1_Missense_Mutation_p.D34Y|ASPH_ENST00000517903.1_Missense_Mutation_p.D207Y|ASPH_ENST00000522835.1_Missense_Mutation_p.D164Y	NM_004318.3	NP_004309.2	Q12797	ASPH_HUMAN	aspartate beta-hydroxylase	221	Glu-rich.				activation of cysteine-type endopeptidase activity (GO:0097202)|activation of store-operated calcium channel activity (GO:0032237)|calcium ion transmembrane transport (GO:0070588)|cellular response to calcium ion (GO:0071277)|detection of calcium ion (GO:0005513)|face morphogenesis (GO:0060325)|limb morphogenesis (GO:0035108)|muscle contraction (GO:0006936)|negative regulation of cell proliferation (GO:0008285)|palate development (GO:0060021)|pattern specification process (GO:0007389)|peptidyl-aspartic acid hydroxylation (GO:0042264)|positive regulation of calcium ion transport into cytosol (GO:0010524)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of proteolysis (GO:0045862)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cell communication by electrical coupling (GO:0010649)|regulation of inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0031585)|regulation of protein depolymerization (GO:1901879)|regulation of protein stability (GO:0031647)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|response to ATP (GO:0033198)	calcium channel complex (GO:0034704)|cortical endoplasmic reticulum (GO:0032541)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|junctional sarcoplasmic reticulum membrane (GO:0014701)|plasma membrane (GO:0005886)|sarcoplasmic reticulum lumen (GO:0033018)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|electron carrier activity (GO:0009055)|ion channel binding (GO:0044325)|peptide-aspartate beta-dioxygenase activity (GO:0004597)|structural constituent of muscle (GO:0008307)|structural molecule activity (GO:0005198)			breast(1)|cervix(1)|endometrium(5)|large_intestine(5)|lung(16)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35	Lung SC(2;0.153)	Lung NSC(129;0.0358)|all_lung(136;0.0654)|all_epithelial(80;0.101)			L-Aspartic Acid(DB00128)|Succinic acid(DB00139)	TGATTACAGTCTTGTGAAACT	0.318																																						ENST00000541428.1																			0				breast(1)|cervix(1)|endometrium(5)|large_intestine(5)|lung(16)|ovary(4)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						c.(574-576)Gac>Tac		aspartate beta-hydroxylase	L-Aspartic Acid(DB00128)|Succinic acid(DB00139)						65.0	64.0	65.0					8																	62556552		2202	4298	6500	SO:0001583	missense	444				muscle contraction	integral to endoplasmic reticulum membrane	calcium ion binding|electron carrier activity|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptide-aspartate beta-dioxygenase activity|structural constituent of muscle	g.chr8:62556552C>A	AF224468	CCDS34898.1, CCDS34899.1, CCDS34900.1, CCDS43742.1, CCDS47866.1, CCDS55234.1, CCDS55235.1, CCDS55236.1, CCDS55237.1, CCDS55238.1, CCDS75746.1	8q12.1	2008-02-05			ENSG00000198363	ENSG00000198363	1.14.11.16		757	protein-coding gene	gene with protein product	"""junctin"", ""humbug"", ""junctate"""	600582				7821814, 10974562	Standard	NM_004318		Approved	CASQ2BP1, BAH, JCTN, HAAH	uc003xuj.3	Q12797	OTTHUMG00000164375	ENST00000379454.4:c.661G>T	8.37:g.62556552C>A	ENSP00000368767:p.Asp221Tyr					ASPH_ENST00000522835.1_Missense_Mutation_p.D164Y|ASPH_ENST00000445642.3_Missense_Mutation_p.D207Y|ASPH_ENST00000356457.5_Missense_Mutation_p.D221Y|ASPH_ENST00000517847.2_Missense_Mutation_p.D207Y|ASPH_ENST00000518068.1_Missense_Mutation_p.D178Y|ASPH_ENST00000522919.1_Missense_Mutation_p.D34Y|ASPH_ENST00000517903.1_Missense_Mutation_p.D207Y|ASPH_ENST00000379454.4_Missense_Mutation_p.D221Y	p.D192Y	NM_001164750.1	NP_001158222.1	Q12797	ASPH_HUMAN			8	734	-	Lung SC(2;0.153)	Lung NSC(129;0.0358)|all_lung(136;0.0654)|all_epithelial(80;0.101)	221			Glu-rich.		A6NDF4|A6NHI2|B4DIC9|B4E2K4|B7ZM95|E5RGP5|F5H667|Q6NXR7|Q8TB28|Q9H291|Q9H2C4|Q9NRI0|Q9NRI1|Q9Y4J0	Missense_Mutation	SNP	ENST00000379454.4	37	c.574G>T	CCDS34898.1	.	.	.	.	.	.	.	.	.	.	C	10.61	1.399040	0.25291	.	.	ENSG00000198363	ENST00000541428;ENST00000379454;ENST00000522919;ENST00000356457;ENST00000519234;ENST00000518068;ENST00000517903;ENST00000445642;ENST00000517847;ENST00000522835	T;T;T;T;T;T;T;T;T;T	0.57107	0.42;0.42;0.42;0.42;0.42;0.42;0.42;0.42;0.42;0.42	5.22	3.4	0.38934	Aspartyl beta-hydroxylase/Triadin domain (1);	0.914080	0.09435	N	0.802524	T	0.57066	0.2028	L	0.27053	0.805	0.19300	N	0.999976	D;D;D;D;D;D;D	0.76494	0.999;0.984;0.963;0.98;0.965;0.993;0.983	D;D;P;P;P;D;P	0.67103	0.949;0.914;0.735;0.873;0.799;0.914;0.827	T	0.43877	-0.9364	10	0.66056	D	0.02	-3.291	7.6435	0.28307	0.0:0.801:0.0:0.199	.	164;207;192;178;221;207;221	B4DIC9;B7ZM95;F5H667;Q8TB28;Q12797-2;Q9H291;Q12797	.;.;.;.;.;.;ASPH_HUMAN	Y	192;221;34;221;236;178;207;207;207;164	ENSP00000437864:D192Y;ENSP00000368767:D221Y;ENSP00000430516:D34Y;ENSP00000348841:D221Y;ENSP00000427823:D236Y;ENSP00000429286:D178Y;ENSP00000430245:D207Y;ENSP00000394013:D207Y;ENSP00000429954:D207Y;ENSP00000429160:D164Y	ENSP00000348841:D221Y	D	-	1	0	ASPH	62719106	0.012000	0.17670	0.157000	0.22605	0.074000	0.17049	1.187000	0.32090	0.680000	0.31366	0.655000	0.94253	GAC		0.318	ASPH-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000378510.3	NM_004318		5	14	1	0	0.014758	1	0.014996	5	14				
RYR3	6263	broad.mit.edu	37	15	34150114	34150114	+	Splice_Site	SNP	C	C	T			TCGA-HT-A61C-01A-11D-A29Q-08	TCGA-HT-A61C-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afbb1eaf-692a-4f24-8d59-049b4f6c59dc	03f58553-7605-4ed2-ace0-6ce09e76087d	g.chr15:34150114C>T	ENST00000389232.4	+	99	14211	c.14141C>T	c.(14140-14142)aCg>aTg	p.T4714M	RP11-3D4.2_ENST00000560268.1_RNA|RP11-3D4.3_ENST00000560404.1_RNA|RYR3_ENST00000415757.3_Splice_Site_p.T4709M	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	4714					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cellular response to ATP (GO:0071318)|cellular response to caffeine (GO:0071313)|cellular response to calcium ion (GO:0071277)|cellular response to magnesium ion (GO:0071286)|ion transmembrane transport (GO:0034220)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|protein homotetramerization (GO:0051289)|striated muscle contraction (GO:0006941)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|ryanodine-sensitive calcium-release channel activity (GO:0005219)			NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		GACATGATGACGGTGAGAGCC	0.582																																						ENST00000389232.4																			0				NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311						c.e99+1		ryanodine receptor 3							59.0	61.0	60.0					15																	34150114		2155	4275	6430	SO:0001630	splice_region_variant	6263				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr15:34150114C>T		CCDS45210.1, CCDS58351.1	15q14-q15	2013-01-10				ENSG00000198838		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10485	protein-coding gene	gene with protein product		180903				8276408	Standard	NM_001036		Approved		uc001zhi.3	Q15413		ENST00000389232.4:c.14142+1C>T	15.37:g.34150114C>T						RYR3_ENST00000415757.3_Splice_Site_p.T4709_splice	p.T4714_splice	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)	99	14211	+		all_lung(180;7.18e-09)	4714					O15175|Q15412	Splice_Site	SNP	ENST00000389232.4	37	c.14142_splice	CCDS45210.1	.	.	.	.	.	.	.	.	.	.	C	23.0	4.360006	0.82353	.	.	ENSG00000198838	ENST00000389232;ENST00000361728	D	0.98585	-5.01	4.75	4.75	0.60458	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.97442	0.9163	L	0.39514	1.22	0.58432	D	0.999999	B;P	0.43662	0.088;0.814	B;P	0.50659	0.021;0.647	D	0.97072	0.9778	10	0.36615	T	0.2	.	18.3173	0.90225	0.0:1.0:0.0:0.0	.	4709;4714	Q15413-2;Q15413	.;RYR3_HUMAN	M	4714;4710	ENSP00000373884:T4714M	ENSP00000354735:T4710M	T	+	2	0	RYR3	31937406	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	7.487000	0.81328	2.624000	0.88883	0.655000	0.94253	ACG		0.582	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417514.1		Missense_Mutation	26	32	0	0	0	1	0	26	32				
CDC25B	994	broad.mit.edu	37	20	3782703	3782703	+	Missense_Mutation	SNP	C	C	T	rs577722969		TCGA-HT-A61C-01A-11D-A29Q-08	TCGA-HT-A61C-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afbb1eaf-692a-4f24-8d59-049b4f6c59dc	03f58553-7605-4ed2-ace0-6ce09e76087d	g.chr20:3782703C>T	ENST00000245960.5	+	10	1751	c.1054C>T	c.(1054-1056)Cgg>Tgg	p.R352W	CDC25B_ENST00000467519.1_3'UTR|CDC25B_ENST00000340833.4_Missense_Mutation_p.R311W|CDC25B_ENST00000379598.5_Missense_Mutation_p.R261W|CDC25B_ENST00000344256.6_Missense_Mutation_p.R288W|CDC25B_ENST00000439880.2_Missense_Mutation_p.R338W	NM_004358.3|NM_021872.2|NM_021873.2	NP_004349.1|NP_068658.1|NP_068659.1	P30305	MPIP2_HUMAN	cell division cycle 25B	352					female meiosis I (GO:0007144)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|oocyte maturation (GO:0001556)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytokinesis (GO:0032467)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of protein kinase activity (GO:0045860)|protein phosphorylation (GO:0006468)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle pole (GO:0000922)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)			NS(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(1)	18						TAAGCGGAGGCGGAGCGTGAC	0.657													C|||	1	0.000199681	0.0	0.0	5008	,	,		16971	0.0		0.001	False		,,,				2504	0.0					ENST00000245960.5																			0				NS(1)|large_intestine(4)|lung(10)|ovary(2)|prostate(1)	18						c.(1054-1056)Cgg>Tgg		cell division cycle 25B							29.0	25.0	26.0					20																	3782703		2195	4283	6478	SO:0001583	missense	994				cell division|G2/M transition of mitotic cell cycle|mitosis|positive regulation of cell proliferation	cytosol|microtubule organizing center|nucleoplasm	protein binding|protein tyrosine phosphatase activity	g.chr20:3782703C>T		CCDS13065.1, CCDS13066.1, CCDS13067.1, CCDS74700.1, CCDS74701.1	20p13	2013-01-17	2013-01-17		ENSG00000101224	ENSG00000101224		"""Protein tyrosine phosphatases / Class III Cys-based PTPs"""	1726	protein-coding gene	gene with protein product		116949	"""cell division cycle 25B"", ""cell division cycle 25 homolog B (S. cerevisiae)"", ""cell division cycle 25 homolog B (S. pombe)"""			1836978	Standard	NM_021873		Approved		uc002wjn.3	P30305	OTTHUMG00000031764	ENST00000245960.5:c.1054C>T	20.37:g.3782703C>T	ENSP00000245960:p.Arg352Trp					CDC25B_ENST00000379598.5_Missense_Mutation_p.R261W|CDC25B_ENST00000340833.4_Missense_Mutation_p.R311W|CDC25B_ENST00000467519.1_3'UTR|CDC25B_ENST00000344256.6_Missense_Mutation_p.R288W|CDC25B_ENST00000439880.2_Missense_Mutation_p.R338W	p.R352W	NM_004358.3|NM_021872.2|NM_021873.2	NP_004349.1|NP_068658.1|NP_068659.1	P30305	MPIP2_HUMAN			10	1751	+			352					D3DVY1|D3DVY2|D3DVY3|D3DVY4|O43551|Q13971|Q5JX77|Q6RSS1|Q9BRA6	Missense_Mutation	SNP	ENST00000245960.5	37	c.1054C>T	CCDS13067.1	.	.	.	.	.	.	.	.	.	.	C	16.62	3.174882	0.57692	.	.	ENSG00000101224	ENST00000344256;ENST00000379598;ENST00000245960;ENST00000439880;ENST00000340833	T;T;T;T;T	0.26810	1.71;1.71;1.71;1.71;1.71	4.62	3.52	0.40303	.	0.324362	0.30492	N	0.009518	T	0.44222	0.1283	M	0.62723	1.935	0.37349	D	0.910703	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;0.999;0.999;0.999	D;D;D;D;D;D	0.73380	0.98;0.98;0.98;0.944;0.944;0.933	T	0.49532	-0.8930	10	0.72032	D	0.01	-10.493	9.7477	0.40457	0.8153:0.1847:0.0:0.0	.	261;274;288;311;338;352	B4DQZ3;B4DRC3;B4DIG0;P30305-3;P30305-2;P30305	.;.;.;.;.;MPIP2_HUMAN	W	288;261;352;338;311	ENSP00000339125:R288W;ENSP00000368918:R261W;ENSP00000245960:R352W;ENSP00000405972:R338W;ENSP00000339170:R311W	ENSP00000245960:R352W	R	+	1	2	CDC25B	3730703	0.989000	0.36119	0.966000	0.40874	0.654000	0.38779	3.094000	0.50227	0.741000	0.32674	-0.467000	0.05162	CGG		0.657	CDC25B-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077779.2	NM_021874		7	9	0	0	0	1	0	7	9				
TRANK1	9881	broad.mit.edu	37	3	36875111	36875111	+	Missense_Mutation	SNP	T	T	C			TCGA-HT-A61C-01A-11D-A29Q-08	TCGA-HT-A61C-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afbb1eaf-692a-4f24-8d59-049b4f6c59dc	03f58553-7605-4ed2-ace0-6ce09e76087d	g.chr3:36875111T>C	ENST00000429976.2	-	21	6078	c.5831A>G	c.(5830-5832)cAg>cGg	p.Q1944R	TRANK1_ENST00000301807.6_Missense_Mutation_p.Q1394R|TRANK1_ENST00000428977.2_Missense_Mutation_p.Q1394R	NM_014831.2	NP_055646.2	O15050	TRNK1_HUMAN	tetratricopeptide repeat and ankyrin repeat containing 1	1944							ATP binding (GO:0005524)|hydrolase activity (GO:0016787)			NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						ACATGAGGCCTGGAAGTCCTT	0.572																																						ENST00000301807.6																			0				NS(2)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(18)|lung(20)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	73						c.(4180-4182)cAg>cGg		tetratricopeptide repeat and ankyrin repeat containing 1							36.0	37.0	37.0					3																	36875111		1958	4144	6102	SO:0001583	missense	9881				DNA repair		ATP binding|ATP-dependent DNA helicase activity|DNA binding	g.chr3:36875111T>C	AK096678	CCDS46789.1, CCDS46789.2	3p22.2	2013-01-11			ENSG00000168016	ENSG00000168016		"""Ankyrin repeat domain containing"", ""Tetratricopeptide (TTC) repeat domain containing"""	29011	protein-coding gene	gene with protein product	"""lupus brain antigen 1"", ""KIAA0342"""					9205841	Standard	NM_014831		Approved	LBA1, KIAA0342	uc003cgj.3	O15050	OTTHUMG00000155848	ENST00000429976.2:c.5831A>G	3.37:g.36875111T>C	ENSP00000416168:p.Gln1944Arg					TRANK1_ENST00000428977.2_Missense_Mutation_p.Q1394R|TRANK1_ENST00000429976.2_Missense_Mutation_p.Q1944R	p.Q1394R	NM_014831.2	NP_055646.2	O15050	TRNK1_HUMAN			21	6078	-			1944					Q8N8K0	Missense_Mutation	SNP	ENST00000429976.2	37	c.4181A>G	CCDS46789.2	.	.	.	.	.	.	.	.	.	.	T	6.871	0.530149	0.13127	.	.	ENSG00000168016	ENST00000428977;ENST00000429976;ENST00000301807	T;T;T	0.29397	1.57;1.98;1.57	5.29	4.13	0.48395	.	0.256954	0.27323	N	0.019900	T	0.12518	0.0304	N	0.12746	0.255	0.29926	N	0.82232	B	0.09022	0.002	B	0.06405	0.002	T	0.27640	-1.0068	10	0.02654	T	1	.	6.6558	0.22986	0.0:0.2219:0.0:0.7781	.	1944	O15050	TRNK1_HUMAN	R	1394;1944;1394	ENSP00000416826:Q1394R;ENSP00000416168:Q1944R;ENSP00000301807:Q1394R	ENSP00000301807:Q1394R	Q	-	2	0	TRANK1	36850115	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	2.145000	0.42207	2.140000	0.66376	0.459000	0.35465	CAG		0.572	TRANK1-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_014831		12	22	0	0	0	1	0	12	22				
HEATR5B	54497	broad.mit.edu	37	2	37289163	37289163	+	Nonsense_Mutation	SNP	G	G	A	rs369632588		TCGA-HT-A61C-01A-11D-A29Q-08	TCGA-HT-A61C-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afbb1eaf-692a-4f24-8d59-049b4f6c59dc	03f58553-7605-4ed2-ace0-6ce09e76087d	g.chr2:37289163G>A	ENST00000233099.5	-	11	1710	c.1615C>T	c.(1615-1617)Cga>Tga	p.R539*	HEATR5B_ENST00000354531.2_Nonsense_Mutation_p.R539*	NM_019024.1	NP_061897.1	Q9P2D3	HTR5B_HUMAN	HEAT repeat containing 5B	539						extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)				breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|pancreas(1)|prostate(1)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	77		all_hematologic(82;0.21)				GCAGCAGTTCGTAAAAGATCT	0.348																																						ENST00000233099.5																			0				breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|pancreas(1)|prostate(1)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	77						c.(1615-1617)Cga>Tga		HEAT repeat containing 5B		G	stop/ARG	2,4404	4.2+/-10.8	0,2,2201	102.0	107.0	105.0		1615	3.9	1.0	2		105	1,8599	1.2+/-3.3	0,1,4299	no	stop-gained	HEATR5B	NM_019024.1		0,3,6500	AA,AG,GG		0.0116,0.0454,0.0231		539/2072	37289163	3,13003	2203	4300	6503	SO:0001587	stop_gained	54497						binding	g.chr2:37289163G>A	AB037835	CCDS33181.1	2p22.2	2007-01-02			ENSG00000008869	ENSG00000008869			29273	protein-coding gene	gene with protein product						10718198	Standard	XM_005264379		Approved	KIAA1414, DKFZp686P15184	uc002rpp.1	Q9P2D3	OTTHUMG00000152158	ENST00000233099.5:c.1615C>T	2.37:g.37289163G>A	ENSP00000233099:p.Arg539*					HEATR5B_ENST00000354531.2_Nonsense_Mutation_p.R539*	p.R539*	NM_019024.1	NP_061897.1	Q9P2D3	HTR5B_HUMAN			11	1710	-		all_hematologic(82;0.21)	539					B5MDU8|Q7Z3B2|Q9NVL7	Nonsense_Mutation	SNP	ENST00000233099.5	37	c.1615C>T	CCDS33181.1	.	.	.	.	.	.	.	.	.	.	G	40	8.041390	0.98624	4.54E-4	1.16E-4	ENSG00000008869	ENST00000233099;ENST00000354531;ENST00000424416	.	.	.	5.7	3.87	0.44632	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.11485	T	0.65	-10.1497	14.6232	0.68602	0.0:0.0:0.6219:0.3781	.	.	.	.	X	539	.	ENSP00000233099:R539X	R	-	1	2	HEATR5B	37142667	1.000000	0.71417	0.996000	0.52242	0.998000	0.95712	3.720000	0.54933	0.725000	0.32318	0.655000	0.94253	CGA		0.348	HEATR5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325492.1	NM_019024		30	51	0	0	0	1	0	30	51				
CR2	1380	broad.mit.edu	37	1	207640156	207640156	+	Missense_Mutation	SNP	C	C	T			TCGA-HT-A61C-01A-11D-A29Q-08	TCGA-HT-A61C-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afbb1eaf-692a-4f24-8d59-049b4f6c59dc	03f58553-7605-4ed2-ace0-6ce09e76087d	g.chr1:207640156C>T	ENST00000367058.3	+	2	533	c.344C>T	c.(343-345)aCa>aTa	p.T115I	CR2_ENST00000367057.3_Missense_Mutation_p.T115I|CR2_ENST00000367059.3_Missense_Mutation_p.T115I|CR2_ENST00000458541.2_Missense_Mutation_p.T115I	NM_001877.4	NP_001868.2	P20023	CR2_HUMAN	complement component (3d/Epstein Barr virus) receptor 2	115	Sushi 2. {ECO:0000255|PROSITE- ProRule:PRU00302}.				B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|complement activation, classical pathway (GO:0006958)|immune response (GO:0006955)|innate immune response (GO:0045087)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	complement binding (GO:0001848)|complement receptor activity (GO:0004875)|DNA binding (GO:0003677)|protein homodimerization activity (GO:0042803)|transmembrane signaling receptor activity (GO:0004888)			NS(2)|breast(3)|endometrium(4)|kidney(3)|large_intestine(12)|lung(26)|ovary(1)|pancreas(1)|prostate(1)|skin(12)|upper_aerodigestive_tract(3)|urinary_tract(1)	69						GATTCTGTGACATTTGCCTGT	0.423																																						ENST00000367057.3																			0				NS(2)|breast(3)|endometrium(4)|kidney(3)|large_intestine(12)|lung(26)|ovary(1)|pancreas(1)|prostate(1)|skin(12)|upper_aerodigestive_tract(3)|urinary_tract(1)	69						c.(343-345)aCa>aTa		complement component (3d/Epstein Barr virus) receptor 2							105.0	101.0	102.0					1																	207640156		2203	4300	6503	SO:0001583	missense	1380				complement activation, classical pathway|innate immune response	integral to membrane|plasma membrane	complement receptor activity|protein homodimerization activity	g.chr1:207640156C>T	M26004	CCDS1478.1, CCDS31007.1	1q32	2014-09-17			ENSG00000117322	ENSG00000117322		"""CD molecules"", ""Complement system"""	2336	protein-coding gene	gene with protein product		120650					Standard	NM_001006658		Approved	CD21	uc001hfv.3	P20023	OTTHUMG00000036307	ENST00000367058.3:c.344C>T	1.37:g.207640156C>T	ENSP00000356025:p.Thr115Ile					CR2_ENST00000367059.3_Missense_Mutation_p.T115I|CR2_ENST00000458541.2_Missense_Mutation_p.T115I|CR2_ENST00000367058.3_Missense_Mutation_p.T115I	p.T115I	NM_001006658.2	NP_001006659.1	P20023	CR2_HUMAN			2	533	+			115			Sushi 2.		C9JHD2|Q13866|Q14212|Q53EL2|Q5BKT9|Q5SR46|Q5SR48	Missense_Mutation	SNP	ENST00000367058.3	37	c.344C>T	CCDS1478.1	.	.	.	.	.	.	.	.	.	.	C	12.71	2.019630	0.35606	.	.	ENSG00000117322	ENST00000367058;ENST00000367057;ENST00000367059;ENST00000458541	T;T;T;T	0.64618	-0.11;-0.11;-0.11;-0.11	5.0	3.02	0.34903	Complement control module (2);Sushi/SCR/CCP (3);	.	.	.	.	T	0.73297	0.3569	M	0.74647	2.275	0.38494	D	0.948041	P;D;D	0.76494	0.952;0.997;0.999	P;D;D	0.72625	0.863;0.975;0.978	T	0.74222	-0.3735	9	0.49607	T	0.09	.	6.5574	0.22468	0.1759:0.7306:0.0:0.0936	.	115;115;115	Q5SR47;P20023;P20023-3	.;CR2_HUMAN;.	I	115	ENSP00000356025:T115I;ENSP00000356024:T115I;ENSP00000356026:T115I;ENSP00000404222:T115I	ENSP00000356024:T115I	T	+	2	0	CR2	205706779	0.837000	0.29446	0.997000	0.53966	0.025000	0.11179	0.298000	0.19120	1.318000	0.45170	0.655000	0.94253	ACA		0.423	CR2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000088274.1	NM_001877		25	52	0	0	0	1	0	25	52				
EGFR	1956	broad.mit.edu	37	7	55221743	55221743	+	Missense_Mutation	SNP	A	A	C			TCGA-HT-A61C-01A-11D-A29Q-08	TCGA-HT-A61C-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afbb1eaf-692a-4f24-8d59-049b4f6c59dc	03f58553-7605-4ed2-ace0-6ce09e76087d	g.chr7:55221743A>C	ENST00000275493.2	+	7	964	c.787A>C	c.(787-789)Acc>Ccc	p.T263P	EGFR_ENST00000420316.2_Missense_Mutation_p.T263P|EGFR_ENST00000442591.1_Missense_Mutation_p.T263P|EGFR_ENST00000344576.2_Missense_Mutation_p.T263P|EGFR_ENST00000342916.3_Missense_Mutation_p.T263P|EGFR_ENST00000455089.1_Missense_Mutation_p.T218P|EGFR_ENST00000454757.2_Missense_Mutation_p.T210P	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	263			Missing (variant EGFR vIII; found in a lung cancer sample; somatic mutation; induces lung cancer when exogenously expressed). {ECO:0000269|PubMed:16672372}.		activation of phospholipase A2 activity by calcium-mediated signaling (GO:0043006)|activation of phospholipase C activity (GO:0007202)|alkanesulfonate metabolic process (GO:0019694)|astrocyte activation (GO:0048143)|axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular response to amino acid stimulus (GO:0071230)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to drug (GO:0035690)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to estradiol stimulus (GO:0071392)|cellular response to mechanical stimulus (GO:0071260)|cerebral cortex cell migration (GO:0021795)|circadian rhythm (GO:0007623)|digestive tract morphogenesis (GO:0048546)|diterpenoid metabolic process (GO:0016101)|embryonic placenta development (GO:0001892)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hair follicle development (GO:0001942)|hydrogen peroxide metabolic process (GO:0042743)|innate immune response (GO:0045087)|learning or memory (GO:0007611)|liver development (GO:0001889)|lung development (GO:0030324)|magnesium ion homeostasis (GO:0010960)|MAPK cascade (GO:0000165)|morphogenesis of an epithelial fold (GO:0060571)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein catabolic process (GO:0042177)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification (GO:0001503)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|polysaccharide metabolic process (GO:0005976)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of DNA repair (GO:0045739)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of inflammatory response (GO:0050729)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of superoxide anion generation (GO:0032930)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasoconstriction (GO:0045907)|positive regulation of vasodilation (GO:0045909)|protein autophosphorylation (GO:0046777)|protein insertion into membrane (GO:0051205)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to calcium ion (GO:0051592)|response to cobalamin (GO:0033590)|response to hydroxyisoflavone (GO:0033594)|response to osmotic stress (GO:0006970)|response to oxidative stress (GO:0006979)|response to stress (GO:0006950)|response to UV-A (GO:0070141)|salivary gland morphogenesis (GO:0007435)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|tongue development (GO:0043586)|translation (GO:0006412)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|Shc-EGFR complex (GO:0070435)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|epidermal growth factor-activated receptor activity (GO:0005006)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)|ubiquitin protein ligase binding (GO:0031625)	p.T263P(4)		NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Afatinib(DB08916)|Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)|Vandetanib(DB05294)	GTGCAAGGACACCTGCCCCCC	0.577		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)																												ENST00000275493.2		8	yes	Dom	yes	Familial lung cancer	7	7p12.3-p12.1	1956	"""A, O, Mis"""	"""epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian)"""			"""E, O"""		NSCLC	"""glioma, NSCLC"""		4	Substitution - Missense(4)	p.T263P(4)	central_nervous_system(4)	NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110						c.(787-789)Acc>Ccc		epidermal growth factor receptor	Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)						220.0	172.0	188.0					7																	55221743		2203	4300	6503	SO:0001583	missense	1956	Lung Cancer, Familial Clustering of	Familial Cancer Database	incl. Hereditary Lung cancer, Hereditary Non-Small Cell Lung cancer	activation of phospholipase A2 activity by calcium-mediated signaling|activation of phospholipase C activity|axon guidance|cell proliferation|cell-cell adhesion|negative regulation of apoptosis|negative regulation of epidermal growth factor receptor signaling pathway|ossification|positive regulation of catenin import into nucleus|positive regulation of cell migration|positive regulation of cyclin-dependent protein kinase activity involved in G1/S|positive regulation of epithelial cell proliferation|positive regulation of MAP kinase activity|positive regulation of nitric oxide biosynthetic process|positive regulation of phosphorylation|positive regulation of protein kinase B signaling cascade|protein autophosphorylation|protein insertion into membrane|regulation of nitric-oxide synthase activity|regulation of peptidyl-tyrosine phosphorylation|response to stress|response to UV-A	basolateral plasma membrane|endoplasmic reticulum membrane|endosome|extracellular space|Golgi membrane|integral to membrane|nuclear membrane|Shc-EGFR complex	actin filament binding|ATP binding|double-stranded DNA binding|epidermal growth factor receptor activity|identical protein binding|MAP/ERK kinase kinase activity|protein heterodimerization activity|protein phosphatase binding|receptor signaling protein tyrosine kinase activity	g.chr7:55221743A>C		CCDS5514.1, CCDS5515.1, CCDS5516.1, CCDS47587.1	7p12	2014-09-17	2010-06-25		ENSG00000146648	ENSG00000146648			3236	protein-coding gene	gene with protein product	"""erythroblastic leukemia viral (v-erb-b) oncogene homolog (avian)"""	131550	"""epidermal growth factor receptor (avian erythroblastic leukemia viral (v-erb-b) oncogene homolog)"""	ERBB		1505215	Standard	NM_201282		Approved	ERBB1	uc003tqk.3	P00533	OTTHUMG00000023661	ENST00000275493.2:c.787A>C	7.37:g.55221743A>C	ENSP00000275493:p.Thr263Pro	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)				EGFR_ENST00000442591.1_Missense_Mutation_p.T263P|EGFR_ENST00000342916.3_Missense_Mutation_p.T263P|EGFR_ENST00000454757.2_Missense_Mutation_p.T210P|EGFR_ENST00000344576.2_Missense_Mutation_p.T263P|EGFR_ENST00000420316.2_Missense_Mutation_p.T263P|EGFR_ENST00000455089.1_Missense_Mutation_p.T218P	p.T263P	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		7	964	+	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		263					O00688|O00732|P06268|Q14225|Q68GS5|Q92795|Q9BZS2|Q9GZX1|Q9H2C9|Q9H3C9|Q9UMD7|Q9UMD8|Q9UMG5	Missense_Mutation	SNP	ENST00000275493.2	37	c.787A>C	CCDS5514.1	.	.	.	.	.	.	.	.	.	.	A	15.55	2.866807	0.51588	.	.	ENSG00000146648	ENST00000455089;ENST00000342916;ENST00000395504;ENST00000344576;ENST00000420316;ENST00000275493;ENST00000442591;ENST00000454757;ENST00000533450	D;D;D;D;D;D;D	0.84442	-1.85;-1.85;-1.85;-1.85;-1.85;-1.85;-1.85	5.94	5.94	0.96194	Growth factor, receptor (1);Furin-like cysteine-rich domain (1);	0.244508	0.45361	D	0.000372	D	0.86619	0.5976	M	0.68593	2.085	0.39155	D	0.962303	P;P;P;P;P	0.52061	0.642;0.483;0.95;0.894;0.794	B;B;P;P;P	0.51079	0.433;0.286;0.658;0.56;0.487	D	0.87155	0.2211	10	0.42905	T	0.14	.	9.6762	0.40043	0.9225:0.0:0.0775:0.0	.	218;263;263;263;263	Q504U8;P00533;P00533-3;P00533-4;P00533-2	.;EGFR_HUMAN;.;.;.	P	218;263;133;263;263;263;263;210;57	ENSP00000415559:T218P;ENSP00000342376:T263P;ENSP00000345973:T263P;ENSP00000413843:T263P;ENSP00000275493:T263P;ENSP00000410031:T263P;ENSP00000395243:T210P	ENSP00000275493:T263P	T	+	1	0	EGFR	55189237	0.996000	0.38824	1.000000	0.80357	0.970000	0.65996	2.639000	0.46570	2.272000	0.75746	0.460000	0.39030	ACC		0.577	EGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251456.2	NM_005228		38	119	0	0	0	1	0	38	119				
NAB1	4664	broad.mit.edu	37	2	191537858	191537858	+	Missense_Mutation	SNP	C	C	G			TCGA-HT-A61C-01A-11D-A29Q-08	TCGA-HT-A61C-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afbb1eaf-692a-4f24-8d59-049b4f6c59dc	03f58553-7605-4ed2-ace0-6ce09e76087d	g.chr2:191537858C>G	ENST00000337386.5	+	6	1446	c.985C>G	c.(985-987)Cca>Gca	p.P329A	NAB1_ENST00000484774.1_Intron|NAB1_ENST00000409581.1_Missense_Mutation_p.P329A|NAB1_ENST00000409641.1_Missense_Mutation_p.P329A|NAB1_ENST00000545490.1_Missense_Mutation_p.P99A|NAB1_ENST00000357215.5_Missense_Mutation_p.P329A	NM_005966.3	NP_005957.2	Q13506	NAB1_HUMAN	NGFI-A binding protein 1 (EGR1 binding protein 1)	329	Necessary for nuclear localization. {ECO:0000250}.				endochondral ossification (GO:0001958)|myelination (GO:0042552)|negative regulation of transcription, DNA-templated (GO:0045892)|regulation of epidermis development (GO:0045682)|regulation of transcription, DNA-templated (GO:0006355)|Schwann cell differentiation (GO:0014037)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				kidney(2)|large_intestine(2)|lung(1)|prostate(1)|skin(1)	7			OV - Ovarian serous cystadenocarcinoma(117;0.00318)|Epithelial(96;0.0405)|all cancers(119;0.109)			TGAATTATCCCCAAAGAGAAT	0.318																																						ENST00000337386.5																			0				kidney(2)|large_intestine(2)|lung(1)|prostate(1)|skin(1)	7						c.(985-987)Cca>Gca		NGFI-A binding protein 1 (EGR1 binding protein 1)							201.0	211.0	208.0					2																	191537858		2203	4300	6503	SO:0001583	missense	4664				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chr2:191537858C>G		CCDS2307.1	2q32.3-q33	2008-05-23			ENSG00000138386	ENSG00000138386			7626	protein-coding gene	gene with protein product	"""EGR1 binding protein 1"""	600800				7624335, 8668170, 9418898	Standard	XM_005246579		Approved		uc002usb.3	Q13506	OTTHUMG00000132689	ENST00000337386.5:c.985C>G	2.37:g.191537858C>G	ENSP00000336894:p.Pro329Ala					NAB1_ENST00000484774.1_Intron|NAB1_ENST00000357215.5_Missense_Mutation_p.P329A|NAB1_ENST00000545490.1_Missense_Mutation_p.P99A|NAB1_ENST00000409581.1_Missense_Mutation_p.P329A|NAB1_ENST00000409641.1_Missense_Mutation_p.P329A	p.P329A	NM_005966.3	NP_005957.2	Q13506	NAB1_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00318)|Epithelial(96;0.0405)|all cancers(119;0.109)		6	1446	+			329			Necessary for nuclear localization (By similarity).		O75383|O75384|Q6GTU1|Q9UEV1	Missense_Mutation	SNP	ENST00000337386.5	37	c.985C>G	CCDS2307.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	20.6|20.6	4.025907|4.025907	0.75390|0.75390	.|.	.|.	ENSG00000138386|ENSG00000138386	ENST00000409581;ENST00000337386;ENST00000357215;ENST00000409641;ENST00000545490|ENST00000434473	.|.	.|.	.|.	5.0|5.0	5.0|5.0	0.66597|0.66597	Nab1, C-terminal (1);|.	0.000000|0.000000	0.85682|0.85682	D|D	0.000000|0.000000	T|T	0.58466|0.58466	0.2124|0.2124	L|L	0.32530|0.32530	0.975|0.975	0.80722|0.80722	D|D	1|1	D;D;D|.	0.71674|.	0.996;0.973;0.998|.	D;P;D|.	0.73708|.	0.981;0.898;0.965|.	T|T	0.52275|0.52275	-0.8597|-0.8597	9|6	0.54805|.	T|.	0.06|.	-12.2731|-12.2731	17.8248|17.8248	0.88661|0.88661	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	329;329;329|.	F8W8J7;B8ZZS2;Q13506|.	.;.;NAB1_HUMAN|.	A|R	329;329;329;329;99|111	.|.	ENSP00000336894:P329A|.	P|P	+|+	1|2	0|0	NAB1|NAB1	191246103|191246103	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.994000|0.994000	0.84299|0.84299	6.592000|6.592000	0.74095|0.74095	2.761000|2.761000	0.94854|0.94854	0.650000|0.650000	0.86243|0.86243	CCA|CCC		0.318	NAB1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255986.1	NM_005966		10	22	0	0	0	1	0	10	22				
EXOC8	149371	broad.mit.edu	37	1	231472849	231472851	+	In_Frame_Del	DEL	CCA	CCA	-	rs142526535		TCGA-HT-A61C-01A-11D-A29Q-08	TCGA-HT-A61C-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afbb1eaf-692a-4f24-8d59-049b4f6c59dc	03f58553-7605-4ed2-ace0-6ce09e76087d	g.chr1:231472849_231472851delCCA	ENST00000360394.2	-	1	727_729	c.641_643delTGG	c.(640-645)gtggct>gct	p.V214del	SPRTN_ENST00000295050.7_5'Flank|SPRTN_ENST00000008440.9_5'Flank|EXOC8_ENST00000366645.1_In_Frame_Del_p.V210del|SPRTN_ENST00000391858.4_5'UTR	NM_175876.3	NP_787072.2	Q8IYI6	EXOC8_HUMAN	exocyst complex component 8	214	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				cellular protein localization (GO:0034613)|cellular protein metabolic process (GO:0044267)|exocytosis (GO:0006887)|membrane organization (GO:0061024)|protein transport (GO:0015031)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|exocyst (GO:0000145)|membrane (GO:0016020)|plasma membrane (GO:0005886)				cervix(2)|endometrium(1)|large_intestine(2)|liver(1)|lung(5)|prostate(1)|skin(1)|stomach(1)	14	Breast(184;0.0871)	all_cancers(173;0.151)|Prostate(94;0.183)				AGCCAGGTAGCCACCAACAAGCA	0.547																																						ENST00000366645.1																			0				cervix(2)|endometrium(1)|large_intestine(2)|liver(1)|lung(5)|prostate(1)|skin(1)|stomach(1)	14						c.(628-633)gct>g		exocyst complex component 8																																				SO:0001651	inframe_deletion	149371				exocytosis|protein transport	growth cone|nucleus	protein binding	g.chr1:231472849_231472851delCCA	AL117352	CCDS1593.1	1q42.2	2013-01-22			ENSG00000116903	ENSG00000116903			24659	protein-coding gene	gene with protein product		615283				12477932	Standard	NM_175876		Approved	SEC84, EXO84, Exo84p	uc001huq.3	Q8IYI6	OTTHUMG00000038025	ENST00000360394.2:c.641_643delTGG	1.37:g.231472852_231472854delCCA	ENSP00000353564:p.Val214del					SPRTN_ENST00000391858.4_5'UTR|EXOC8_ENST00000360394.2_In_Frame_Del_p.VA214del	p.VA210del			Q8IYI6	EXOC8_HUMAN			1	747_749	-	Breast(184;0.0871)	all_cancers(173;0.151)|Prostate(94;0.183)	214			PH.		B3KU33|Q5TE82	In_Frame_Del	DEL	ENST00000360394.2	37	c.629_631delTGG	CCDS1593.1																																																																																				0.547	EXOC8-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_175876		43	73						43	73	---	---	---	---
SLIT2	9353	broad.mit.edu	37	4	20525656	20525659	+	Frame_Shift_Del	DEL	TTTA	TTTA	-			TCGA-HT-A61C-01A-11D-A29Q-08	TCGA-HT-A61C-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afbb1eaf-692a-4f24-8d59-049b4f6c59dc	03f58553-7605-4ed2-ace0-6ce09e76087d	g.chr4:20525656_20525659delTTTA	ENST00000504154.1	+	14	1546_1549	c.1294_1297delTTTA	c.(1294-1299)tttattfs	p.FI432fs	SLIT2_ENST00000503837.1_Frame_Shift_Del_p.FI436fs|SLIT2_ENST00000273739.5_Frame_Shift_Del_p.FI436fs|SLIT2_ENST00000503823.1_Frame_Shift_Del_p.FI432fs	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	432	LRRCT 2.				apoptotic process involved in luteolysis (GO:0061364)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|branching morphogenesis of an epithelial tube (GO:0048754)|cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to heparin (GO:0071504)|cellular response to hormone stimulus (GO:0032870)|chemorepulsion involved in postnatal olfactory bulb interneuron migration (GO:0021836)|corticospinal neuron axon guidance through spinal cord (GO:0021972)|dorsal/ventral axon guidance (GO:0033563)|in utero embryonic development (GO:0001701)|induction of negative chemotaxis (GO:0050929)|mammary duct terminal end bud growth (GO:0060763)|metanephros development (GO:0001656)|motor neuron axon guidance (GO:0008045)|negative chemotaxis (GO:0050919)|negative regulation of actin filament polymerization (GO:0030837)|negative regulation of axon extension (GO:0030517)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cellular response to growth factor stimulus (GO:0090288)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of gene expression (GO:0010629)|negative regulation of lamellipodium assembly (GO:0010593)|negative regulation of leukocyte chemotaxis (GO:0002689)|negative regulation of monocyte chemotaxis (GO:0090027)|negative regulation of mononuclear cell migration (GO:0071676)|negative regulation of neutrophil chemotaxis (GO:0090024)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of retinal ganglion cell axon guidance (GO:0090260)|negative regulation of small GTPase mediated signal transduction (GO:0051058)|negative regulation of smooth muscle cell chemotaxis (GO:0071672)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of vascular permeability (GO:0043116)|positive regulation of apoptotic process (GO:0043065)|positive regulation of axonogenesis (GO:0050772)|response to cortisol (GO:0051414)|retinal ganglion cell axon guidance (GO:0031290)|Roundabout signaling pathway (GO:0035385)|single organismal cell-cell adhesion (GO:0016337)|ureteric bud development (GO:0001657)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|chemorepellent activity (GO:0045499)|GTPase inhibitor activity (GO:0005095)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|laminin-1 binding (GO:0043237)|protein homodimerization activity (GO:0042803)|proteoglycan binding (GO:0043394)|Roundabout binding (GO:0048495)			NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						CCAGAACCCCTTTATTTGTGACTG	0.485																																						ENST00000504154.1																			0				NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						c.(1294-1299)ttfs		slit homolog 2 (Drosophila)																																				SO:0001589	frameshift_variant	9353				apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding	g.chr4:20525656_20525659delTTTA	AF055585	CCDS3426.1, CCDS75110.1, CCDS75111.1	4p15.2	2008-08-01	2001-11-28		ENSG00000145147	ENSG00000145147			11086	protein-coding gene	gene with protein product		603746	"""slit (Drosophila) homolog 2"""	SLIL3		9813312, 18269211	Standard	XM_005248211		Approved	Slit-2	uc003gpr.1	O94813	OTTHUMG00000128551	ENST00000504154.1:c.1294_1297delTTTA	4.37:g.20525656_20525659delTTTA	ENSP00000422591:p.Phe432fs					SLIT2_ENST00000503837.1_Frame_Shift_Del_p.FI436fs|SLIT2_ENST00000503823.1_Frame_Shift_Del_p.FI432fs|SLIT2_ENST00000273739.5_Frame_Shift_Del_p.FI436fs	p.FI432fs	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN			14	1546_1549	+			432			LRRCT 2.		B7ZLR5|O95710|Q17RU3|Q9Y5Q7	Frame_Shift_Del	DEL	ENST00000504154.1	37	c.1294_1297delTTTA	CCDS3426.1																																																																																				0.485	SLIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250396.2			59	111						59	111	---	---	---	---
RFC1	5981	broad.mit.edu	37	4	39325012	39325014	+	In_Frame_Del	DEL	TCA	TCA	-			TCGA-HT-A61C-01A-11D-A29Q-08	TCGA-HT-A61C-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afbb1eaf-692a-4f24-8d59-049b4f6c59dc	03f58553-7605-4ed2-ace0-6ce09e76087d	g.chr4:39325012_39325014delTCA	ENST00000381897.1	-	7	799_801	c.666_668delTGA	c.(664-669)gatgaa>gaa	p.D222del	RFC1_ENST00000349703.2_In_Frame_Del_p.D222del|RFC1_ENST00000418436.1_5'UTR	NM_001204747.1|NM_002913.4	NP_001191676.1|NP_002904.3	P35251	RFC1_HUMAN	replication factor C (activator 1) 1, 145kDa	222					DNA repair (GO:0006281)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA-dependent DNA replication (GO:0006261)|mitotic cell cycle (GO:0000278)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|positive regulation of catalytic activity (GO:0043085)|positive regulation of transcription, DNA-templated (GO:0045893)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|telomere maintenance via telomerase (GO:0007004)|transcription, DNA-templated (GO:0006351)|transcription-coupled nucleotide-excision repair (GO:0006283)	cell junction (GO:0030054)|DNA replication factor C complex (GO:0005663)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA clamp loader activity (GO:0003689)|double-stranded DNA binding (GO:0003690)|enzyme activator activity (GO:0008047)|sequence-specific DNA binding (GO:0043565)			haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	16						GGCAAACTCTTCATCTTCATGCA	0.379																																					Colon(109;59 1555 12203 17579 39824)|Esophageal Squamous(18;360 542 16186 28570 51157)	ENST00000381897.1																			0				haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	16						c.(664-669)gaa>ga		replication factor C (activator 1) 1, 145kDa																																				SO:0001651	inframe_deletion	5981				DNA strand elongation involved in DNA replication|nucleotide-excision repair, DNA gap filling|regulation of transcription, DNA-dependent|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|telomere maintenance via telomerase|transcription, DNA-dependent|transcription-coupled nucleotide-excision repair	DNA replication factor C complex|nucleoplasm	ATP binding|DNA clamp loader activity|enzyme activator activity|protein binding	g.chr4:39325012_39325014delTCA	L23320	CCDS3450.1, CCDS56329.1	4p14-p13	2010-04-21	2002-08-29		ENSG00000035928	ENSG00000035928		"""ATPases / AAA-type"""	9969	protein-coding gene	gene with protein product		102579	"""replication factor C (activator 1) 1 (145kD)"""			8114700	Standard	NM_002913		Approved	A1, PO-GA, RFC140, MHCBFB	uc003gty.2	P35251	OTTHUMG00000099363	ENST00000381897.1:c.666_668delTGA	4.37:g.39325012_39325014delTCA	ENSP00000371321:p.Asp222del					RFC1_ENST00000349703.2_In_Frame_Del_p.DE222del|RFC1_ENST00000418436.1_5'UTR	p.DE222del	NM_001204747.1|NM_002913.4	NP_001191676.1|NP_002904.3	P35251	RFC1_HUMAN			7	799_801	-			222					A8K6E7|Q5XKF5|Q6PKU0|Q86V41|Q86V46	In_Frame_Del	DEL	ENST00000381897.1	37	c.666_668delTGA	CCDS56329.1																																																																																				0.379	RFC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000216808.1	NM_002913		16	36						16	36	---	---	---	---
MBL1P	8512	broad.mit.edu	37	10	81680656	81680656	+	RNA	DEL	A	A	-	rs567381624	byFrequency	TCGA-HT-A61C-01A-11D-A29Q-08	TCGA-HT-A61C-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afbb1eaf-692a-4f24-8d59-049b4f6c59dc	03f58553-7605-4ed2-ace0-6ce09e76087d	g.chr10:81680656delA	ENST00000480805.1	+	0	723					NR_002724.2				mannose-binding lectin (protein A) 1, pseudogene																		GCTTTTGGGGAAAAAAAAAAG	0.542																																						ENST00000480805.1																			0																																																			0							g.chr10:81680656delA	AF019382		10q22.3	2012-11-02	2009-12-02	2009-12-02	ENSG00000242600	ENSG00000242600		"""Collectins"""	6921	pseudogene	pseudogene			"""mannose-binding lectin (protein A) 1, pseudogene 1"""	MBL1P1		9501312	Standard	NR_002724		Approved	COLEC3P	uc001kbg.1		OTTHUMG00000018595		10.37:g.81680656delA								NR_002724.2						0	723	+									RNA	DEL	ENST00000480805.1	37																																																																																						0.542	MBL1P-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000049017.1			2	4						2	4	---	---	---	---
KRTAP9-1	728318	broad.mit.edu	37	17	39346425	39346427	+	In_Frame_Del	DEL	GTG	GTG	-	rs376633756		TCGA-HT-A61C-01A-11D-A29Q-08	TCGA-HT-A61C-10A-01D-A29Q-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	afbb1eaf-692a-4f24-8d59-049b4f6c59dc	03f58553-7605-4ed2-ace0-6ce09e76087d	g.chr17:39346425_39346427delGTG	ENST00000398470.1	+	1	287_289	c.287_289delGTG	c.(286-291)tgtggc>tgc	p.G97del	KRTAP9-1_ENST00000377723.3_Intron|KRTAP9-1_ENST00000318329.5_Splice_Site_p.46_47CG>W	NM_001190460.1	NP_001177389.1	A8MXZ3	KRA91_HUMAN	keratin associated protein 9-1	97	30 X 5 AA repeats of C-C-[CGSVRQH]- [SQTNP]-[PTSI].					keratin filament (GO:0045095)				breast(1)|lung(3)	4						TCCAGCTGCTGTGGCCAAACCAG	0.606																																						ENST00000398470.1																			0				breast(1)|lung(3)	4						c.(286-291)tgc>t		keratin associated protein 9-1																																				SO:0001651	inframe_deletion	0					keratin filament		g.chr17:39346425_39346427delGTG	AC006070	CCDS56029.1	17q21.2	2010-06-03			ENSG00000240542	ENSG00000240542		"""Keratin associated proteins"""	18912	protein-coding gene	gene with protein product			"""keratin associated protein 9-like 3"""	KRTAP9L3			Standard	NM_001190460		Approved	KAP9.1	uc021txf.1	A8MXZ3	OTTHUMG00000133636	ENST00000398470.1:c.287_289delGTG	17.37:g.39346425_39346427delGTG	ENSP00000381488:p.Gly97del					KRTAP9-1_ENST00000318329.5_Splice_Site_p.CG46_splice|KRTAP9-1_ENST00000377723.3_Intron	p.CG96del	NM_001190460.1	NP_001177389.1	A8MXZ3	KRA91_HUMAN			1	287_289	+			96			30 X 5 AA repeats of C-C-[CGSVRQH]- [SQTNP]-[PTSI].			In_Frame_Del	DEL	ENST00000398470.1	37	c.287_289delGTG	CCDS56029.1																																																																																				0.606	KRTAP9-1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257781.1			7	35						7	35	---	---	---	---
