#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
GABRB3	2562	broad.mit.edu	37	15	26866590	26866590	+	Missense_Mutation	SNP	C	C	T			TCGA-J9-A8CL-01A-11D-A34U-08	TCGA-J9-A8CL-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1f9f2e-7a09-4e2d-bb99-c881a34a8da2	e5a23b9d-18a0-4cb4-8743-3d53fc3c45b4	g.chr15:26866590C>T	ENST00000311550.5	-	4	443	c.332G>A	c.(331-333)cGa>cAa	p.R111Q	GABRB3_ENST00000400188.3_Missense_Mutation_p.R40Q|GABRB3_ENST00000541819.2_Missense_Mutation_p.R167Q|GABRB3_ENST00000545868.1_Missense_Mutation_p.R26Q|GABRB3_ENST00000299267.4_Missense_Mutation_p.R111Q	NM_000814.5|NM_001278631.1	NP_000805.1|NP_001265560.1	P28472	GBRB3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 3	111					cellular response to histamine (GO:0071420)|chloride transmembrane transport (GO:1902476)|cochlea development (GO:0090102)|inner ear receptor cell development (GO:0060119)|innervation (GO:0060384)|ion transmembrane transport (GO:0034220)|negative regulation of neuron apoptotic process (GO:0043524)|palate development (GO:0060021)|sensory perception of sound (GO:0007605)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|GABA-A receptor complex (GO:1902711)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)|GABA-gated chloride ion channel activity (GO:0022851)			NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(41)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	68		all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232)		all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Fospropofol(DB06716)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Ivermectin(DB00602)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Piperazine(DB00592)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	GTCAGCCACTCGATTGTCAAG	0.448																																						ENST00000541819.2																			0				NS(2)|breast(1)|central_nervous_system(1)|cervix(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|liver(1)|lung(41)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	68						c.(499-501)cGa>cAa		gamma-aminobutyric acid (GABA) A receptor, beta 3	Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)						104.0	101.0	102.0					15																	26866590		2203	4300	6503	SO:0001583	missense	2562				synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	g.chr15:26866590C>T		CCDS10018.1, CCDS10019.1, CCDS53920.1, CCDS53921.1	15q12	2012-06-22			ENSG00000166206	ENSG00000166206		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4083	protein-coding gene	gene with protein product	"""GABA(A) receptor, beta 3"""	137192					Standard	NM_000814		Approved		uc001zaz.3	P28472	OTTHUMG00000129231	ENST00000311550.5:c.332G>A	15.37:g.26866590C>T	ENSP00000308725:p.Arg111Gln					GABRB3_ENST00000400188.3_Missense_Mutation_p.R40Q|GABRB3_ENST00000311550.5_Missense_Mutation_p.R111Q|GABRB3_ENST00000545868.1_Missense_Mutation_p.R26Q|GABRB3_ENST00000299267.4_Missense_Mutation_p.R111Q	p.R167Q			P28472	GBRB3_HUMAN		all cancers(64;1.46e-07)|Epithelial(43;2.89e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0251)|COAD - Colon adenocarcinoma(236;0.235)|Lung(196;0.243)	5	602	-		all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232)	111					B7Z2W1|B7Z825|F5H3D2|H7BYV8|Q14352|Q96FM5	Missense_Mutation	SNP	ENST00000311550.5	37	c.500G>A	CCDS10019.1	.	.	.	.	.	.	.	.	.	.	C	36	5.890806	0.97074	.	.	ENSG00000166206	ENST00000311550;ENST00000541819;ENST00000299267;ENST00000400188;ENST00000545868;ENST00000555094	T;T;T;T;T;T	0.78924	-1.22;-1.22;-1.22;-1.22;-1.22;-1.22	5.81	5.81	0.92471	Neurotransmitter-gated ion-channel ligand-binding (3);	0.000000	0.85682	D	0.000000	D	0.87034	0.6077	M	0.67625	2.065	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.80764	0.982;0.989;0.994	D	0.84372	0.0544	10	0.33141	T	0.24	.	19.0679	0.93119	0.0:1.0:0.0:0.0	.	167;111;111	F5H7N0;P28472-2;P28472	.;.;GBRB3_HUMAN	Q	111;167;111;40;26;26	ENSP00000308725:R111Q;ENSP00000442408:R167Q;ENSP00000299267:R111Q;ENSP00000383049:R40Q;ENSP00000439169:R26Q;ENSP00000452272:R26Q	ENSP00000299267:R111Q	R	-	2	0	GABRB3	24417683	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.665000	0.83852	2.752000	0.94435	0.467000	0.42956	CGA		0.448	GABRB3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251352.2			7	52	0	0	0	1	0	7	52				
E4F1	1877	broad.mit.edu	37	16	2284613	2284613	+	Silent	SNP	C	C	T			TCGA-J9-A8CL-01A-11D-A34U-08	TCGA-J9-A8CL-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1f9f2e-7a09-4e2d-bb99-c881a34a8da2	e5a23b9d-18a0-4cb4-8743-3d53fc3c45b4	g.chr16:2284613C>T	ENST00000301727.4	+	11	1671	c.1623C>T	c.(1621-1623)caC>caT	p.H541H	DNASE1L2_ENST00000320700.5_5'Flank|DNASE1L2_ENST00000567494.1_5'Flank|DNASE1L2_ENST00000564065.1_5'Flank|E4F1_ENST00000564139.1_Silent_p.H541H|DNASE1L2_ENST00000382437.4_5'Flank|E4F1_ENST00000565090.1_Intron|RP11-304L19.12_ENST00000564055.1_lincRNA	NM_004424.3	NP_004415.2	Q66K89	E4F1_HUMAN	E4F transcription factor 1	541	Interaction with BMI1.|Mediates interaction with CDKN2A.|Mediates interaction with TP53.				cell proliferation (GO:0008283)|DNA replication (GO:0006260)|mitotic cell cycle arrest (GO:0071850)|mitotic nuclear division (GO:0007067)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|protein ubiquitination (GO:0016567)|regulation of cell cycle process (GO:0010564)|regulation of growth (GO:0040008)|regulation of mitotic cell cycle, embryonic (GO:0009794)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|spindle (GO:0005819)	cAMP response element binding (GO:0035497)|DNA binding (GO:0003677)|ligase activity (GO:0016874)|metal ion binding (GO:0046872)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			ovary(1)	1						TCAGGACACACCTGGAGGAGA	0.632																																						ENST00000301727.4																			0				ovary(1)	1						c.(1621-1623)caC>caT		E4F transcription factor 1							24.0	21.0	22.0					16																	2284613		2185	4292	6477	SO:0001819	synonymous_variant	1877				cell division|cell proliferation|interspecies interaction between organisms|mitosis|regulation of growth	cytoplasm|nucleoplasm	DNA binding|ligase activity|protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription corepressor activity|zinc ion binding	g.chr16:2284613C>T	U87269	CCDS32370.1, CCDS73809.1, CCDS73810.1	16p13.3	2013-01-08				ENSG00000167967		"""Zinc fingers, C2H2-type"""	3121	protein-coding gene	gene with protein product		603022				9763670, 8828041	Standard	XM_005255155		Approved	E4F	uc002cpm.3	Q66K89		ENST00000301727.4:c.1623C>T	16.37:g.2284613C>T						E4F1_ENST00000564139.1_Silent_p.H541H|E4F1_ENST00000565090.1_Intron	p.H541H	NM_004424.3	NP_004415.2	Q66K89	E4F1_HUMAN			11	1671	+			541			Interaction with BMI1.|Mediates interaction with CDKN2A.|Mediates interaction with TP53.		A8K2R4|O00146	Silent	SNP	ENST00000301727.4	37	c.1623C>T	CCDS32370.1																																																																																				0.632	E4F1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435225.1	NM_004424		3	8	0	0	0	1	0	3	8				
RPS6KA3	6197	broad.mit.edu	37	X	20190906	20190906	+	Silent	SNP	C	C	T			TCGA-J9-A8CL-01A-11D-A34U-08	TCGA-J9-A8CL-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1f9f2e-7a09-4e2d-bb99-c881a34a8da2	e5a23b9d-18a0-4cb4-8743-3d53fc3c45b4	g.chrX:20190906C>T	ENST00000379565.3	-	15	1518	c.1311G>A	c.(1309-1311)aaG>aaA	p.K437K	RPS6KA3_ENST00000479809.1_5'UTR|RPS6KA3_ENST00000544447.1_Silent_p.K409K|RPS6KA3_ENST00000379548.4_Silent_p.K407K|RPS6KA3_ENST00000540702.1_Silent_p.K408K	NM_004586.2	NP_004577.1	P51812	KS6A3_HUMAN	ribosomal protein S6 kinase, 90kDa, polypeptide 3	437	Protein kinase 2. {ECO:0000255|PROSITE- ProRule:PRU00159}.				axon guidance (GO:0007411)|cell cycle (GO:0007049)|central nervous system development (GO:0007417)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell growth (GO:0030307)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of DNA-templated transcription in response to stress (GO:0043620)|regulation of translation in response to stress (GO:0043555)|response to lipopolysaccharide (GO:0032496)|signal transduction (GO:0007165)|skeletal system development (GO:0001501)|stress-activated MAPK cascade (GO:0051403)|synaptic transmission (GO:0007268)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|magnesium ion binding (GO:0000287)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(4)|central_nervous_system(4)|endometrium(3)|kidney(2)|large_intestine(5)|liver(14)|lung(7)|ovary(1)|stomach(1)	41					Acetylsalicylic acid(DB00945)	GTATACATCTCTTGCAAACAG	0.318																																						ENST00000379565.3																			0				breast(4)|central_nervous_system(4)|endometrium(3)|kidney(2)|large_intestine(5)|liver(14)|lung(7)|ovary(1)|stomach(1)	41						c.(1309-1311)aaG>aaA		ribosomal protein S6 kinase, 90kDa, polypeptide 3							72.0	59.0	64.0					X																	20190906		2201	4295	6496	SO:0001819	synonymous_variant	6197				axon guidance|central nervous system development|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|skeletal system development|stress-activated MAPK cascade|synaptic transmission|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|nucleoplasm	ATP binding|caspase inhibitor activity|magnesium ion binding|protein serine/threonine kinase activity	g.chrX:20190906C>T	U08316	CCDS14197.1	Xp22.2-p22.1	2013-06-03	2002-08-29		ENSG00000177189	ENSG00000177189			10432	protein-coding gene	gene with protein product		300075	"""ribosomal protein S6 kinase, 90kD, polypeptide 3"", ""mental retardation, X-linked 19"", ""Coffin-Lowry syndrome"""	MRX19, CLS		8141249, 11896450, 16879200	Standard	XM_005274573		Approved	RSK, RSK2, HU-3	uc004czu.3	P51812	OTTHUMG00000021231	ENST00000379565.3:c.1311G>A	X.37:g.20190906C>T						RPS6KA3_ENST00000544447.1_Silent_p.K409K|RPS6KA3_ENST00000479809.1_5'UTR|RPS6KA3_ENST00000540702.1_Silent_p.K408K|RPS6KA3_ENST00000379548.4_Silent_p.K407K	p.K437K	NM_004586.2	NP_004577.1	P51812	KS6A3_HUMAN			15	1518	-			437			Protein kinase 2.		B2R9V4|Q4VAP3|Q59H26|Q5JPK8|Q7Z3Z7	Silent	SNP	ENST00000379565.3	37	c.1311G>A	CCDS14197.1																																																																																				0.318	RPS6KA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000056011.3	NM_004586		8	22	0	0	0	1	0	8	22				
DRP2	1821	broad.mit.edu	37	X	100511155	100511155	+	Silent	SNP	G	G	A			TCGA-J9-A8CL-01A-11D-A34U-08	TCGA-J9-A8CL-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1f9f2e-7a09-4e2d-bb99-c881a34a8da2	e5a23b9d-18a0-4cb4-8743-3d53fc3c45b4	g.chrX:100511155G>A	ENST00000395209.3	+	21	2822	c.2295G>A	c.(2293-2295)cgG>cgA	p.R765R	DRP2_ENST00000402866.1_Silent_p.R765R|DRP2_ENST00000538510.1_Silent_p.R765R|DRP2_ENST00000541709.1_Silent_p.R687R	NM_001939.2	NP_001930.2	Q13474	DRP2_HUMAN	dystrophin related protein 2	765					central nervous system development (GO:0007417)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)	p.R762R(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(10)|ovary(3)|prostate(1)|skin(2)|urinary_tract(2)	31						TCACAGACCGGGAGCCAGCCT	0.577																																						ENST00000395209.3																			1	Substitution - coding silent(1)	p.R762R(1)	prostate(1)	breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(10)|ovary(3)|prostate(1)|skin(2)|urinary_tract(2)	31						c.(2293-2295)cgG>cgA		dystrophin related protein 2							106.0	93.0	97.0					X																	100511155		2203	4300	6503	SO:0001819	synonymous_variant	1821				central nervous system development	cytoplasm|cytoskeleton	zinc ion binding	g.chrX:100511155G>A	U43519	CCDS14480.2, CCDS55465.1	Xq22	2008-02-05			ENSG00000102385	ENSG00000102385			3032	protein-coding gene	gene with protein product		300052				8640231	Standard	NM_001939		Approved		uc004egz.2	Q13474	OTTHUMG00000022020	ENST00000395209.3:c.2295G>A	X.37:g.100511155G>A						DRP2_ENST00000402866.1_Silent_p.R765R|DRP2_ENST00000538510.1_Silent_p.R765R|DRP2_ENST00000541709.1_Silent_p.R687R	p.R765R	NM_001939.2	NP_001930.2	Q13474	DRP2_HUMAN			21	2822	+			765					A6ZKI5|A8K1B0|B1B1F3|B4DIZ0	Silent	SNP	ENST00000395209.3	37	c.2295G>A	CCDS14480.2																																																																																				0.577	DRP2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057522.3	NM_001939		40	21	0	0	0	1	0	40	21				
CACNA2D1	781	broad.mit.edu	37	7	81714091	81714091	+	Missense_Mutation	SNP	A	A	C			TCGA-J9-A8CL-01A-11D-A34U-08	TCGA-J9-A8CL-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1f9f2e-7a09-4e2d-bb99-c881a34a8da2	e5a23b9d-18a0-4cb4-8743-3d53fc3c45b4	g.chr7:81714091A>C	ENST00000356253.5	-	7	907	c.652T>G	c.(652-654)Tat>Gat	p.Y218D	CACNA2D1_ENST00000356860.3_Missense_Mutation_p.Y218D|CACNA2D1_ENST00000423588.1_Missense_Mutation_p.Y218D			P54289	CA2D1_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 1	218					calcium ion transport (GO:0006816)|regulation of calcium ion transport (GO:0051924)	extracellular vesicular exosome (GO:0070062)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)|voltage-gated calcium channel complex (GO:0005891)	metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	81					Amlodipine(DB00381)|Cyclandelate(DB04838)|Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)	CTACCTGGATAATATCGAGCT	0.418																																						ENST00000356860.3																			0				breast(2)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(15)|liver(1)|lung(42)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	81						c.(652-654)Tat>Gat		calcium channel, voltage-dependent, alpha 2/delta subunit 1	Felodipine(DB01023)|Gabapentin(DB00996)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)						96.0	94.0	95.0					7																	81714091		2203	4300	6503	SO:0001583	missense	781					voltage-gated calcium channel complex	metal ion binding	g.chr7:81714091A>C	M76559	CCDS5598.1	7q21-q22	2014-09-17			ENSG00000153956	ENSG00000153956		"""Calcium channel subunits"""	1399	protein-coding gene	gene with protein product		114204	"""long intergenic non-protein coding RNA 1112"""	CACNL2A, CACNA2, MHS3, LINC01112		8188232	Standard	XM_005250570		Approved	lncRNA-N3	uc003uhr.1	P54289	OTTHUMG00000023622	ENST00000356253.5:c.652T>G	7.37:g.81714091A>C	ENSP00000348589:p.Tyr218Asp					CACNA2D1_ENST00000423588.1_Missense_Mutation_p.Y218D|CACNA2D1_ENST00000356253.5_Missense_Mutation_p.Y218D	p.Y218D	NM_000722.2	NP_000713.2	P54289	CA2D1_HUMAN			7	990	-			218					Q17R45|Q9UD80|Q9UD81|Q9UD82	Missense_Mutation	SNP	ENST00000356253.5	37	c.652T>G		.	.	.	.	.	.	.	.	.	.	A	25.1	4.607614	0.87157	.	.	ENSG00000153956	ENST00000356860;ENST00000284088;ENST00000356253;ENST00000423588	T;T;T	0.51574	1.97;1.97;0.7	5.82	5.82	0.92795	.	0.118493	0.64402	D	0.000014	T	0.73110	0.3545	M	0.87097	2.86	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	T	0.78575	-0.2151	10	0.87932	D	0	-19.5442	15.8494	0.78916	1.0:0.0:0.0:0.0	.	218	P54289-2	.	D	218	ENSP00000349320:Y218D;ENSP00000348589:Y218D;ENSP00000405395:Y218D	ENSP00000284088:Y218D	Y	-	1	0	CACNA2D1	81552027	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	9.160000	0.94734	2.216000	0.71823	0.528000	0.53228	TAT		0.418	CACNA2D1-201	KNOWN	basic	protein_coding	protein_coding				19	35	0	0	0	1	0	19	35				
ZNF804A	91752	broad.mit.edu	37	2	185802145	185802145	+	Nonsense_Mutation	SNP	T	T	A			TCGA-J9-A8CL-01A-11D-A34U-08	TCGA-J9-A8CL-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1f9f2e-7a09-4e2d-bb99-c881a34a8da2	e5a23b9d-18a0-4cb4-8743-3d53fc3c45b4	g.chr2:185802145T>A	ENST00000302277.6	+	4	2616	c.2022T>A	c.(2020-2022)tgT>tgA	p.C674*		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	674							metal ion binding (GO:0046872)			NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						AAGAAATGTGTAAAACATGGA	0.318																																						ENST00000302277.6																			0				NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						c.(2020-2022)tgT>tgA		zinc finger protein 804A							83.0	85.0	84.0					2																	185802145		2203	4296	6499	SO:0001587	stop_gained	91752					intracellular	zinc ion binding	g.chr2:185802145T>A	AF052145	CCDS2291.1	2q32.1	2012-10-05	2006-10-27	2006-10-27	ENSG00000170396	ENSG00000170396			21711	protein-coding gene	gene with protein product		612282		C2orf10		12970790	Standard	NM_194250		Approved		uc002uph.3	Q7Z570	OTTHUMG00000132625	ENST00000302277.6:c.2022T>A	2.37:g.185802145T>A	ENSP00000303252:p.Cys674*						p.C674*	NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN			4	2616	+			674					A7E253|Q6ZN26	Nonsense_Mutation	SNP	ENST00000302277.6	37	c.2022T>A	CCDS2291.1	.	.	.	.	.	.	.	.	.	.	T	42	9.261049	0.99117	.	.	ENSG00000170396	ENST00000302277	.	.	.	5.54	-1.6	0.08426	.	1.077850	0.07129	N	0.845275	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.48119	T	0.1	1.711	5.6538	0.17631	0.0:0.2042:0.2427:0.5531	.	.	.	.	X	674	.	ENSP00000303252:C674X	C	+	3	2	ZNF804A	185510390	0.024000	0.19004	0.000000	0.03702	0.372000	0.29890	0.808000	0.27154	-0.245000	0.09625	0.533000	0.62120	TGT		0.318	ZNF804A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255871.1	NM_194250		6	93	0	0	0	1	0	6	93				
BFSP1	631	broad.mit.edu	37	20	17479638	17479638	+	Silent	SNP	G	G	A	rs370330055		TCGA-J9-A8CL-01A-11D-A34U-08	TCGA-J9-A8CL-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1f9f2e-7a09-4e2d-bb99-c881a34a8da2	e5a23b9d-18a0-4cb4-8743-3d53fc3c45b4	g.chr20:17479638G>A	ENST00000377873.3	-	6	822	c.783C>T	c.(781-783)gaC>gaT	p.D261D	BFSP1_ENST00000377868.2_Silent_p.D136D|BFSP1_ENST00000544874.1_Silent_p.D122D|BFSP1_ENST00000536626.1_Silent_p.D122D	NM_001195.3	NP_001186.1	Q12934	BFSP1_HUMAN	beaded filament structural protein 1, filensin	261	Coil 2.|Rod.				cell maturation (GO:0048469)|lens fiber cell development (GO:0070307)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|intermediate filament (GO:0005882)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	structural constituent of cytoskeleton (GO:0005200)|structural constituent of eye lens (GO:0005212)			central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(7)|prostate(2)|skin(1)|stomach(1)	18						GAATCTCATCGTCATAACACT	0.483																																						ENST00000377873.3																			0				central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(7)|prostate(2)|skin(1)|stomach(1)	18						c.(781-783)gaC>gaT		beaded filament structural protein 1, filensin		G	,	0,4406		0,0,2203	147.0	135.0	139.0		408,783	-3.9	0.0	20		139	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous,coding-synonymous	BFSP1	NM_001161705.1,NM_001195.3	,	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	,	136/541,261/666	17479638	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	631					cytoplasm|intermediate filament|membrane	structural constituent of cytoskeleton|structural constituent of eye lens	g.chr20:17479638G>A	Y16717	CCDS13126.1, CCDS54448.1, CCDS63229.1	20p12.1	2014-06-05			ENSG00000125864	ENSG00000125864		"""Intermediate filaments type VI, eye lens intermediate filaments"""	1040	protein-coding gene	gene with protein product		603307				9787085	Standard	NM_001161705		Approved	CP94, CP115, LIFL-H, filensin	uc002wpo.3	Q12934	OTTHUMG00000031940	ENST00000377873.3:c.783C>T	20.37:g.17479638G>A						BFSP1_ENST00000544874.1_Silent_p.D122D|BFSP1_ENST00000536626.1_Silent_p.D122D|BFSP1_ENST00000377868.2_Silent_p.D136D	p.D261D	NM_001195.3	NP_001186.1	Q12934	BFSP1_HUMAN			6	822	-			261			Coil 2.|Rod.		F5H0G1|O43595|O76034|O95676|Q8IVZ6|Q9HBX4	Silent	SNP	ENST00000377873.3	37	c.783C>T	CCDS13126.1																																																																																				0.483	BFSP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078119.6	NM_001195		11	102	0	0	0	1	0	11	102				
PCDHGA9	56107	broad.mit.edu	37	5	140783471	140783471	+	Missense_Mutation	SNP	G	G	C			TCGA-J9-A8CL-01A-11D-A34U-08	TCGA-J9-A8CL-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1f9f2e-7a09-4e2d-bb99-c881a34a8da2	e5a23b9d-18a0-4cb4-8743-3d53fc3c45b4	g.chr5:140783471G>C	ENST00000573521.1	+	1	952	c.952G>C	c.(952-954)Gaa>Caa	p.E318Q	PCDHGA7_ENST00000518325.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA8_ENST00000398604.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGB3_ENST00000576222.1_Intron	NM_018921.2|NM_032089.1	NP_061744.1|NP_114478.1	Q9Y5G4	PCDG9_HUMAN	protocadherin gamma subfamily A, 9	318	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			endometrium(1)|kidney(1)|lung(3)	5			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TTATGAAATGGAAATACAAGC	0.358																																						ENST00000573521.1																			0				endometrium(1)|kidney(1)|lung(3)	5						c.(952-954)Gaa>Caa									138.0	137.0	138.0					5																	140783471		1870	4108	5978	SO:0001583	missense	0							g.chr5:140783471G>C	AF152516	CCDS58981.1, CCDS75341.1	5q31	2010-01-26						"""Cadherins / Protocadherins : Clustered"""	8707	other	protocadherin		606296				10380929	Standard	NM_018921		Approved	PCDH-GAMMA-A9		Q9Y5G4		ENST00000573521.1:c.952G>C	5.37:g.140783471G>C	ENSP00000460274:p.Glu318Gln					PCDHGA8_ENST00000398604.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB4_ENST00000519479.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA2_ENST00000394576.2_Intron	p.E318Q	NM_018921.2|NM_032089.1	NP_061744.1|NP_114478.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	952	+								A2RU65|Q9Y5C9	Missense_Mutation	SNP	ENST00000573521.1	37	c.952G>C	CCDS58981.1																																																																																				0.358	PCDHGA9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437105.1	NM_018921		79	67	0	0	0	1	0	79	67				
TPTE2P6	374491	broad.mit.edu	37	13	25168432	25168432	+	RNA	SNP	T	T	C	rs201252723	byFrequency	TCGA-J9-A8CL-01A-11D-A34U-08	TCGA-J9-A8CL-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1f9f2e-7a09-4e2d-bb99-c881a34a8da2	e5a23b9d-18a0-4cb4-8743-3d53fc3c45b4	g.chr13:25168432T>C	ENST00000453498.1	+	0	1104				TPTE2P6_ENST00000440905.1_RNA																							TTGAAACAGCTGGTGTATTAA	0.373																																						ENST00000453498.1																			0																																																			0							g.chr13:25168432T>C																													13.37:g.25168432T>C														0	1104	+									RNA	SNP	ENST00000453498.1	37																																																																																						0.373	RP11-556N21.1-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000044193.1			4	31	0	0	0	1	0	4	31				
MIR892A	100126342	broad.mit.edu	37	X	145076301	145076301	+	RNA	SNP	G	G	A			TCGA-J9-A8CL-01A-11D-A34U-08	TCGA-J9-A8CL-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1f9f2e-7a09-4e2d-bb99-c881a34a8da2	e5a23b9d-18a0-4cb4-8743-3d53fc3c45b4	g.chrX:145076301G>A	ENST00000401124.1	-	0	75				hsa-mir-892c_ENST00000516410.1_RNA|MIR890_ENST00000401256.1_RNA|MIR892B_ENST00000401279.1_RNA|MIR888_ENST00000401186.1_RNA	NR_030584.1				microRNA 892a																		AGTGTACTTGGTGAGCCTTCC	0.498																																						ENST00000401186.1																			0																				57.0	42.0	46.0					X																	145076301		1568	3582	5150			0							g.chrX:145076301G>A			Xq27.3	2011-09-12		2008-12-18	ENSG00000215943	ENSG00000215943		"""ncRNAs / Micro RNAs"""	33639	non-coding RNA	RNA, micro				MIRN892A			Standard	NR_030584		Approved	hsa-mir-892a	uc022cfq.1				X.37:g.145076301G>A								NR_030592.1						0	77	-									RNA	SNP	ENST00000401124.1	37																																																																																						0.498	MIR892A-201	KNOWN	basic	miRNA	miRNA		NR_030584		4	32	0	0	0	1	0	4	32				
KCNJ10	3766	broad.mit.edu	37	1	160012031	160012031	+	Missense_Mutation	SNP	C	C	G	rs200054482		TCGA-J9-A8CL-01A-11D-A34U-08	TCGA-J9-A8CL-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1f9f2e-7a09-4e2d-bb99-c881a34a8da2	e5a23b9d-18a0-4cb4-8743-3d53fc3c45b4	g.chr1:160012031C>G	ENST00000368089.3	-	2	518	c.292G>C	c.(292-294)Gag>Cag	p.E98Q	KCNJ10_ENST00000509700.1_5'UTR	NM_002241.4	NP_002232.2	P78508	KCJ10_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 10	98					adult walking behavior (GO:0007628)|central nervous system myelination (GO:0022010)|inflammatory response (GO:0006954)|L-glutamate uptake involved in synaptic transmission (GO:0051935)|membrane hyperpolarization (GO:0060081)|optic nerve development (GO:0021554)|potassium ion homeostasis (GO:0055075)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|protein homotetramerization (GO:0051289)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of resting membrane potential (GO:0060075)|regulation of sensory perception of pain (GO:0051930)|response to blue light (GO:0009637)|response to glucocorticoid (GO:0051384)|response to mineralocorticoid (GO:0051385)|synaptic transmission (GO:0007268)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|dystrophin-associated glycoprotein complex (GO:0016010)|integral component of plasma membrane (GO:0005887)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATP-activated inward rectifier potassium channel activity (GO:0015272)			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)	17	all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)		Yohimbine(DB01392)	GGGTCCAGCTCCAGCAGGTCC	0.582													C|||	1	0.000199681	0.0	0.0	5008	,	,		21462	0.001		0.0	False		,,,				2504	0.0				GBM(167;1368 2014 14817 36425 43215)	ENST00000368089.3																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)	17						c.(292-294)Gag>Cag		potassium inwardly-rectifying channel, subfamily J, member 10							103.0	106.0	105.0					1																	160012031		2203	4300	6503	SO:0001583	missense	3766					integral to plasma membrane	ATP binding|ATP-activated inward rectifier potassium channel activity	g.chr1:160012031C>G	U52155	CCDS1193.1	1q23.2	2011-07-05			ENSG00000177807	ENSG00000177807		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6256	protein-coding gene	gene with protein product		602208				9367690, 8995301, 16382105	Standard	NM_002241		Approved	Kir4.1, Kir1.2	uc001fuw.2	P78508	OTTHUMG00000024073	ENST00000368089.3:c.292G>C	1.37:g.160012031C>G	ENSP00000357068:p.Glu98Gln					KCNJ10_ENST00000509700.1_5'UTR	p.E98Q	NM_002241.4	NP_002232.2	P78508	IRK10_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.111)		2	518	-	all_hematologic(112;0.093)		98					A3KME7|Q5VUT9|Q8N4I7|Q92808	Missense_Mutation	SNP	ENST00000368089.3	37	c.292G>C	CCDS1193.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	13.17	2.155857	0.38021	.	.	ENSG00000177807	ENST00000368089	D	0.94046	-3.34	5.26	5.26	0.73747	Potassium channel, inwardly rectifying, Kir, conserved region 2 (1);	0.070108	0.53938	D	0.000048	D	0.87208	0.6120	L	0.51914	1.62	0.58432	D	0.999993	B	0.26318	0.146	B	0.27715	0.082	D	0.83885	0.0281	10	0.21014	T	0.42	.	16.4095	0.83703	0.0:1.0:0.0:0.0	.	98	P78508	IRK10_HUMAN	Q	98	ENSP00000357068:E98Q	ENSP00000357068:E98Q	E	-	1	0	KCNJ10	158278655	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	6.055000	0.71103	2.735000	0.93741	0.655000	0.94253	GAG		0.582	KCNJ10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060629.1	NM_002241		26	56	0	0	0	1	0	26	56				
ATP13A4	84239	broad.mit.edu	37	3	193207583	193207583	+	Missense_Mutation	SNP	T	T	A	rs376309661		TCGA-J9-A8CL-01A-11D-A34U-08	TCGA-J9-A8CL-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1f9f2e-7a09-4e2d-bb99-c881a34a8da2	e5a23b9d-18a0-4cb4-8743-3d53fc3c45b4	g.chr3:193207583T>A	ENST00000342695.4	-	7	996	c.674A>T	c.(673-675)tAt>tTt	p.Y225F	ATP13A4_ENST00000295548.3_Missense_Mutation_p.Y225F|ATP13A4_ENST00000392443.3_Missense_Mutation_p.Y225F	NM_032279.2	NP_115655.2	Q4VNC1	AT134_HUMAN	ATPase type 13A4	225						integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(27)|ovary(2)|prostate(3)|skin(11)|upper_aerodigestive_tract(2)	71	all_cancers(143;1.76e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000109)		GGCAAAAGCATATTCCTTATA	0.323																																						ENST00000342695.4																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(27)|ovary(2)|prostate(3)|skin(11)|upper_aerodigestive_tract(2)	71						c.(673-675)tAt>tTt		ATPase type 13A4							120.0	125.0	123.0					3																	193207583		2203	4299	6502	SO:0001583	missense	84239				ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding	g.chr3:193207583T>A	AK095277	CCDS3304.2	3q29	2010-04-20			ENSG00000127249	ENSG00000127249		"""ATPases / P-type"""	25422	protein-coding gene	gene with protein product		609556				14702039, 12975309	Standard	XM_005247829		Approved	DKFZp761I1011, FLJ37958	uc003ftd.3	Q4VNC1	OTTHUMG00000074067	ENST00000342695.4:c.674A>T	3.37:g.193207583T>A	ENSP00000339182:p.Tyr225Phe					ATP13A4_ENST00000392443.3_Missense_Mutation_p.Y225F|ATP13A4_ENST00000295548.3_Missense_Mutation_p.Y225F	p.Y225F	NM_032279.2	NP_115655.2	Q4VNC1	AT134_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000109)	7	996	-	all_cancers(143;1.76e-08)|Ovarian(172;0.0386)		225					B7WPC7|Q6UY23|Q8N1Q9|Q9H043	Missense_Mutation	SNP	ENST00000342695.4	37	c.674A>T	CCDS3304.2	.	.	.	.	.	.	.	.	.	.	T	18.27	3.587671	0.66105	.	.	ENSG00000127249	ENST00000392443;ENST00000342695;ENST00000295548	D;D;D	0.89343	-2.5;-2.5;-2.5	5.51	5.51	0.81932	ATPase,  P-type, cytoplasmic transduction domain A (1);	0.000000	0.56097	D	0.000023	D	0.91905	0.7437	M	0.84326	2.69	0.54753	D	0.999985	B;B	0.32543	0.375;0.258	B;B	0.42959	0.403;0.228	D	0.91716	0.5385	10	0.52906	T	0.07	-14.4666	14.7613	0.69607	0.0:0.0:0.0:1.0	.	225;225	Q4VNC1-2;Q4VNC1	.;AT134_HUMAN	F	225	ENSP00000376238:Y225F;ENSP00000339182:Y225F;ENSP00000295548:Y225F	ENSP00000295548:Y225F	Y	-	2	0	ATP13A4	194690277	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	6.352000	0.73027	2.232000	0.73038	0.467000	0.42956	TAT		0.323	ATP13A4-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157244.4	NM_032279		4	164	0	0	0	1	0	4	164				
VIPAS39	63894	broad.mit.edu	37	14	77917637	77917637	+	Missense_Mutation	SNP	C	C	T			TCGA-J9-A8CL-01A-11D-A34U-08	TCGA-J9-A8CL-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1f9f2e-7a09-4e2d-bb99-c881a34a8da2	e5a23b9d-18a0-4cb4-8743-3d53fc3c45b4	g.chr14:77917637C>T	ENST00000553888.1	-	4	746	c.236G>A	c.(235-237)gGc>gAc	p.G79D	VIPAS39_ENST00000327028.4_Missense_Mutation_p.G79D|VIPAS39_ENST00000343765.2_Missense_Mutation_p.G79D|VIPAS39_ENST00000557658.1_Missense_Mutation_p.G79D|VIPAS39_ENST00000448935.2_Intron|VIPAS39_ENST00000556412.1_Missense_Mutation_p.G105D	NM_001193314.1|NM_001193317.1|NM_022067.3	NP_001180243.1|NP_001180246.1|NP_071350.2	Q9H9C1	SPE39_HUMAN	VPS33B interacting protein, apical-basolateral polarity regulator, spe-39 homolog	79					cell differentiation (GO:0030154)|endosome to lysosome transport (GO:0008333)|intracellular protein transport (GO:0006886)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|late endosome (GO:0005770)|recycling endosome (GO:0055037)											GTGGGTTGAGCCGCTATTACC	0.483																																						ENST00000553888.1																			0											c.(235-237)gGc>gAc		VPS33B interacting protein, apical-basolateral polarity regulator, spe-39 homolog							259.0	204.0	222.0					14																	77917637		2203	4300	6503	SO:0001583	missense	63894							g.chr14:77917637C>T	AK022925	CCDS9862.1, CCDS53905.1	14q24.3-q31	2013-08-14	2012-07-24	2012-07-24	ENSG00000151445	ENSG00000151445			20347	protein-coding gene	gene with protein product	"""VPS33B interacting protein, apical-basolateral polarity regulator"""	613401	"""chromosome 14 open reading frame 133"""	C14orf133		20190753, 19109425, 22753090, 23002115, 23918659	Standard	NM_022067		Approved	VIPAR, VPS16B, SPE-39, SPE39, hSPE-39	uc001xtu.2	Q9H9C1		ENST00000553888.1:c.236G>A	14.37:g.77917637C>T	ENSP00000452181:p.Gly79Asp					VIPAS39_ENST00000343765.2_Missense_Mutation_p.G79D|VIPAS39_ENST00000448935.2_Intron|VIPAS39_ENST00000557658.1_Missense_Mutation_p.G79D|VIPAS39_ENST00000327028.4_Missense_Mutation_p.G79D|VIPAS39_ENST00000556412.1_Missense_Mutation_p.G105D	p.G79D	NM_001193314.1|NM_001193317.1|NM_022067.3	NP_001180243.1|NP_001180246.1|NP_071350.2					4	746	-								B4DPI6|O95434|Q9H7E1|Q9H9I9	Missense_Mutation	SNP	ENST00000553888.1	37	c.236G>A	CCDS9862.1	.	.	.	.	.	.	.	.	.	.	C	8.009	0.757142	0.15846	.	.	ENSG00000151445	ENST00000343765;ENST00000553888;ENST00000327028;ENST00000557658;ENST00000556412	T;T;T;T;T	0.41400	1.0;1.0;1.0;1.0;1.0	5.49	3.61	0.41365	.	0.314327	0.39341	N	0.001386	T	0.29716	0.0742	L	0.29908	0.895	0.09310	N	1	B	0.30563	0.285	B	0.25614	0.062	T	0.16897	-1.0387	10	0.56958	D	0.05	-2.793	11.3804	0.49754	0.2533:0.6245:0.1221:0.0	.	79	Q9H9C1	VIPAR_HUMAN	D	79;79;79;79;105	ENSP00000339122:G79D;ENSP00000452181:G79D;ENSP00000313098:G79D;ENSP00000452191:G79D;ENSP00000451857:G105D	ENSP00000313098:G79D	G	-	2	0	VIPAR	76987390	0.000000	0.05858	0.098000	0.21074	0.017000	0.09413	0.922000	0.28734	0.635000	0.30488	0.563000	0.77884	GGC		0.483	VIPAS39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414008.1	NM_022067		4	157	0	0	0	1	0	4	157				
IFI16	3428	broad.mit.edu	37	1	158988127	158988127	+	Missense_Mutation	SNP	A	A	G			TCGA-J9-A8CL-01A-11D-A34U-08	TCGA-J9-A8CL-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1f9f2e-7a09-4e2d-bb99-c881a34a8da2	e5a23b9d-18a0-4cb4-8743-3d53fc3c45b4	g.chr1:158988127A>G	ENST00000295809.7	+	5	913	c.658A>G	c.(658-660)Acc>Gcc	p.T220A	IFI16_ENST00000368131.4_Missense_Mutation_p.T220A|IFI16_ENST00000359709.3_Missense_Mutation_p.T164A|IFI16_ENST00000340979.6_Missense_Mutation_p.T220A|IFI16_ENST00000448393.2_Missense_Mutation_p.T220A|IFI16_ENST00000368132.3_Missense_Mutation_p.T220A|IFI16_ENST00000430894.2_Missense_Mutation_p.T168A			Q16666	IF16_HUMAN	interferon, gamma-inducible protein 16	220	HIN-200 1. {ECO:0000255|PROSITE- ProRule:PRU00106}.|Interaction with TP53 C-terminus.				activation of cysteine-type endopeptidase activity (GO:0097202)|activation of innate immune response (GO:0002218)|autophagy (GO:0006914)|cell proliferation (GO:0008283)|cellular response to glucose starvation (GO:0042149)|cellular response to ionizing radiation (GO:0071479)|defense response to virus (GO:0051607)|hemopoiesis (GO:0030097)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|monocyte differentiation (GO:0030224)|myeloid cell differentiation (GO:0030099)|negative regulation of cysteine-type endopeptidase activity (GO:2000117)|negative regulation of DNA binding (GO:0043392)|negative regulation of innate immune response (GO:0045824)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of viral genome replication (GO:0045071)|positive regulation of cytokine production (GO:0001819)|positive regulation of interleukin-1 beta production (GO:0032731)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|regulation of autophagy (GO:0010506)|regulation of gene expression, epigenetic (GO:0040029)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nuclear speck (GO:0016607)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	core promoter binding (GO:0001047)|double-stranded DNA binding (GO:0003690)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)|transcription factor binding (GO:0008134)			cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_hematologic(112;0.0429)					TGAATATGAGACCCCAGAAAT	0.403																																						ENST00000295809.7																			0				cervix(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.(658-660)Acc>Gcc		interferon, gamma-inducible protein 16							90.0	88.0	89.0					1																	158988127		2203	4300	6503	SO:0001583	missense	3428				cell proliferation|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|monocyte differentiation|negative regulation of transcription, DNA-dependent|response to virus|transcription, DNA-dependent	cytoplasm|nuclear speck|nucleolus	double-stranded DNA binding|protein binding	g.chr1:158988127A>G	M63838	CCDS1180.3, CCDS58039.1	1q22	2008-02-05			ENSG00000163565	ENSG00000163565			5395	protein-coding gene	gene with protein product		147586				1526658, 7959953	Standard	NM_005531		Approved	IFNGIP1, PYHIN2	uc010pis.2	Q16666	OTTHUMG00000037108	ENST00000295809.7:c.658A>G	1.37:g.158988127A>G	ENSP00000295809:p.Thr220Ala					IFI16_ENST00000368131.4_Missense_Mutation_p.T220A|IFI16_ENST00000359709.3_Missense_Mutation_p.T164A|IFI16_ENST00000340979.6_Missense_Mutation_p.T220A|IFI16_ENST00000368132.3_Missense_Mutation_p.T220A|IFI16_ENST00000430894.2_Missense_Mutation_p.T168A|IFI16_ENST00000448393.2_Missense_Mutation_p.T220A	p.T220A			Q16666	IF16_HUMAN			5	913	+	all_hematologic(112;0.0429)		220			HIN-200 1.		B4DJT8|H3BLV7|Q59GX0|Q5T3W7|Q5T3W8|Q5T3X0|Q5T3X1|Q5T3X2|Q8N9E5|Q8NEQ7|Q96AJ5|Q9UH78	Missense_Mutation	SNP	ENST00000295809.7	37	c.658A>G		.	.	.	.	.	.	.	.	.	.	.	9.044	0.990424	0.18966	.	.	ENSG00000163565	ENST00000359709;ENST00000295809;ENST00000340979;ENST00000368131;ENST00000368132;ENST00000430894	T;T;T;T;T	0.13901	2.55;2.55;2.55;2.55;2.55	2.91	-1.92	0.07618	HIN-200/IF120x (2);Nucleic acid-binding, OB-fold (1);	.	.	.	.	T	0.04003	0.0112	L	0.47190	1.495	0.09310	N	1	B;B;B	0.15473	0.013;0.011;0.013	B;B;B	0.21151	0.033;0.019;0.033	T	0.44937	-0.9295	9	0.56958	D	0.05	.	6.4438	0.21865	0.6618:0.0:0.0:0.3382	.	168;220;220	E7EPR3;Q16666-2;Q16666	.;.;IF16_HUMAN	A	220;220;220;220;220;168	ENSP00000295809:T220A;ENSP00000342741:T220A;ENSP00000357113:T220A;ENSP00000357114:T220A;ENSP00000394935:T168A	ENSP00000295809:T220A	T	+	1	0	IFI16	157254751	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.594000	0.05733	-0.094000	0.12374	-0.527000	0.04329	ACC		0.403	IFI16-013	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000421720.1	NM_005531		28	29	0	0	0	1	0	28	29				
MYRIP	25924	broad.mit.edu	37	3	40231654	40231654	+	Silent	SNP	G	G	A	rs146724522	byFrequency	TCGA-J9-A8CL-01A-11D-A34U-08	TCGA-J9-A8CL-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1f9f2e-7a09-4e2d-bb99-c881a34a8da2	e5a23b9d-18a0-4cb4-8743-3d53fc3c45b4	g.chr3:40231654G>A	ENST00000302541.6	+	10	1707	c.1365G>A	c.(1363-1365)tcG>tcA	p.S455S	MYRIP_ENST00000539167.1_Silent_p.S268S|MYRIP_ENST00000396217.3_Silent_p.S366S|MYRIP_ENST00000459828.1_3'UTR|MYRIP_ENST00000425621.1_Silent_p.S455S|MYRIP_ENST00000444716.1_Silent_p.S455S	NM_001284423.1|NM_001284426.1|NM_015460.2	NP_001271352.1|NP_001271355.1|NP_056275.2	Q8NFW9	MYRIP_HUMAN	myosin VIIA and Rab interacting protein	455	Myosin-binding.				intracellular protein transport (GO:0006886)|positive regulation of insulin secretion (GO:0032024)	actin cytoskeleton (GO:0015629)|dense core granule (GO:0031045)|exocyst (GO:0000145)|melanosome (GO:0042470)|perinuclear region of cytoplasm (GO:0048471)|photoreceptor outer segment (GO:0001750)|synapse (GO:0045202)	zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(2)|lung(10)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34				KIRC - Kidney renal clear cell carcinoma(284;0.174)|Kidney(284;0.206)		GCTCTGACTCGGAGACCTCCT	0.637																																						ENST00000302541.6																			0				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(9)|liver(2)|lung(10)|ovary(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						c.(1363-1365)tcG>tcA		myosin VIIA and Rab interacting protein		G		0,4406		0,0,2203	57.0	60.0	59.0		1365	-11.6	0.4	3	dbSNP_134	59	4,8596	3.7+/-12.6	0,4,4296	no	coding-synonymous	MYRIP	NM_015460.2		0,4,6499	AA,AG,GG		0.0465,0.0,0.0308		455/860	40231654	4,13002	2203	4300	6503	SO:0001819	synonymous_variant	25924				intracellular protein transport		actin binding|zinc ion binding	g.chr3:40231654G>A	AF396687	CCDS2689.1, CCDS68390.1, CCDS68391.1, CCDS68392.1	3p21.33	2010-08-20			ENSG00000170011	ENSG00000170011		"""A-kinase anchor proteins"""	19156	protein-coding gene	gene with protein product	"""synaptotagmin-like protein homologue lacking C2 domains-c"", ""rab effector MYRIP"", ""Slp homologue lacking C2 domains"""	611790				11964381, 12221080	Standard	NM_001284425		Approved	DKFZp586F1018, exophilin-8, MyRIP, SLAC2-C, SLAC2C	uc003cka.3	Q8NFW9	OTTHUMG00000131392	ENST00000302541.6:c.1365G>A	3.37:g.40231654G>A						MYRIP_ENST00000459828.1_3'UTR|MYRIP_ENST00000425621.1_Silent_p.S455S|MYRIP_ENST00000444716.1_Silent_p.S455S|MYRIP_ENST00000396217.3_Silent_p.S366S|MYRIP_ENST00000539167.1_Silent_p.S268S	p.S455S	NM_015460.2	NP_056275.2	Q8NFW9	MYRIP_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.174)|Kidney(284;0.206)	10	1707	+			455			Myosin-binding.		B3KWM3|B3KWW4|B7Z2H1|B7Z9V3|G3XAI8|Q32M41|Q32M42|Q569F7|Q8IUF5|Q9Y3V4	Silent	SNP	ENST00000302541.6	37	c.1365G>A	CCDS2689.1																																																																																				0.637	MYRIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254181.2	NM_015460		24	32	0	0	0	1	0	24	32				
DPPA5	340168	broad.mit.edu	37	6	74063588	74063588	+	Missense_Mutation	SNP	G	G	A			TCGA-J9-A8CL-01A-11D-A34U-08	TCGA-J9-A8CL-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1f9f2e-7a09-4e2d-bb99-c881a34a8da2	e5a23b9d-18a0-4cb4-8743-3d53fc3c45b4	g.chr6:74063588G>A	ENST00000370370.3	-	2	349	c.280C>T	c.(280-282)Cgc>Tgc	p.R94C		NM_001025290.2	NP_001020461.1	A6NC42	DPPA5_HUMAN	developmental pluripotency associated 5	94					multicellular organismal development (GO:0007275)	cytoplasm (GO:0005737)	RNA binding (GO:0003723)			NS(1)|endometrium(1)|lung(5)	7						CGCTCCTGGCGCTGGCGGTGC	0.632																																						ENST00000370370.3																			0				NS(1)|endometrium(1)|lung(5)	7						c.(280-282)Cgc>Tgc		developmental pluripotency associated 5							27.0	26.0	27.0					6																	74063588		2203	4300	6503	SO:0001583	missense	340168				multicellular organismal development	cytoplasm	RNA binding	g.chr6:74063588G>A		CCDS34483.1	6q13	2014-01-28			ENSG00000203909	ENSG00000203909			19201	protein-coding gene	gene with protein product		611111					Standard	NM_001025290		Approved	Esg1	uc003pgs.2	A6NC42	OTTHUMG00000015025	ENST00000370370.3:c.280C>T	6.37:g.74063588G>A	ENSP00000359396:p.Arg94Cys						p.R94C	NM_001025290.2	NP_001020461.1	A6NC42	DPPA5_HUMAN			2	349	-			94					B2RPQ7	Missense_Mutation	SNP	ENST00000370370.3	37	c.280C>T	CCDS34483.1	.	.	.	.	.	.	.	.	.	.	G	10.41	1.343575	0.24339	.	.	ENSG00000203909	ENST00000370370	T	0.12569	2.67	3.74	1.89	0.25635	.	0.382253	0.19282	N	0.118133	T	0.07908	0.0198	L	0.52364	1.645	0.22280	N	0.999236	D	0.71674	0.998	P	0.50754	0.649	T	0.15521	-1.0434	10	0.39692	T	0.17	.	8.6384	0.33962	0.0:0.0:0.5839:0.4161	.	94	A6NC42	DPPA5_HUMAN	C	94	ENSP00000359396:R94C	ENSP00000359396:R94C	R	-	1	0	DPPA5	74120309	0.913000	0.31002	0.315000	0.25238	0.023000	0.10783	1.196000	0.32198	0.529000	0.28599	0.491000	0.48974	CGC		0.632	DPPA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041203.3	NM_001025290		5	21	0	0	0	1	0	5	21				
PBX3	5090	broad.mit.edu	37	9	128724390	128724390	+	Missense_Mutation	SNP	G	G	A			TCGA-J9-A8CL-01A-11D-A34U-08	TCGA-J9-A8CL-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1f9f2e-7a09-4e2d-bb99-c881a34a8da2	e5a23b9d-18a0-4cb4-8743-3d53fc3c45b4	g.chr9:128724390G>A	ENST00000373489.5	+	7	1035	c.1019G>A	c.(1018-1020)gGt>gAt	p.G340D	PBX3_ENST00000373483.2_Missense_Mutation_p.G159D|PBX3_ENST00000538998.1_Intron|PBX3_ENST00000373487.4_Missense_Mutation_p.G361D|PBX3_ENST00000447726.2_Missense_Mutation_p.G265D|PBX3_ENST00000342287.5_Intron	NM_006195.5	NP_006186.1	P40426	PBX3_HUMAN	pre-B-cell leukemia homeobox 3	340					adult locomotory behavior (GO:0008344)|anterior compartment pattern formation (GO:0007387)|dorsal spinal cord development (GO:0021516)|neuron development (GO:0048666)|posterior compartment specification (GO:0007388)|regulation of respiratory gaseous exchange by neurological system process (GO:0002087)|respiratory gaseous exchange (GO:0007585)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			biliary_tract(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|skin(1)|upper_aerodigestive_tract(2)	24						GGTTCTTCTGGTTCTTTTAAC	0.443																																						ENST00000373487.4																			0				biliary_tract(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(8)|skin(1)|upper_aerodigestive_tract(2)	24						c.(1081-1083)gGt>gAt		pre-B-cell leukemia homeobox 3							103.0	87.0	92.0					9																	128724390		2203	4300	6503	SO:0001583	missense	5090				anterior compartment pattern formation|posterior compartment specification		sequence-specific DNA binding transcription factor activity	g.chr9:128724390G>A		CCDS6865.1, CCDS48021.1	9q33.3	2011-06-20	2007-01-30		ENSG00000167081	ENSG00000167081		"""Homeoboxes / TALE class"""	8634	protein-coding gene	gene with protein product		176312	"""pre-B-cell leukemia transcription factor 3"""			1682799	Standard	NM_006195		Approved		uc004bqb.3	P40426	OTTHUMG00000020684	ENST00000373489.5:c.1019G>A	9.37:g.128724390G>A	ENSP00000362588:p.Gly340Asp					PBX3_ENST00000447726.2_Missense_Mutation_p.G265D|PBX3_ENST00000373483.2_Missense_Mutation_p.G159D|PBX3_ENST00000373489.5_Missense_Mutation_p.G340D|PBX3_ENST00000342287.5_Intron|PBX3_ENST00000538998.1_Intron	p.G361D			P40426	PBX3_HUMAN			8	1162	+			340					E9PB27|Q5JSA0|Q5JSA1|Q5VXL3|Q96PF9|Q96PG0	Missense_Mutation	SNP	ENST00000373489.5	37	c.1082G>A	CCDS6865.1	.	.	.	.	.	.	.	.	.	.	G	16.12	3.033197	0.54896	.	.	ENSG00000167081	ENST00000373489;ENST00000373487;ENST00000373483;ENST00000447726	D;T;D;D	0.89746	-2.33;1.77;-2.52;-2.56	5.73	4.83	0.62350	.	0.117692	0.56097	D	0.000021	D	0.89876	0.6842	M	0.66939	2.045	0.80722	D	1	P;P	0.46020	0.766;0.871	B;P	0.46452	0.424;0.517	D	0.90511	0.4481	10	0.66056	D	0.02	.	14.758	0.69583	0.0694:0.0:0.9306:0.0	.	361;340	Q5JS98;P40426	.;PBX3_HUMAN	D	340;361;159;265	ENSP00000362588:G340D;ENSP00000362586:G361D;ENSP00000362582:G159D;ENSP00000387456:G265D	ENSP00000362582:G159D	G	+	2	0	PBX3	127764211	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.471000	0.97696	1.418000	0.47098	-0.145000	0.13849	GGT		0.443	PBX3-006	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417765.1			7	23	0	0	0	1	0	7	23				
GRIN1	2902	broad.mit.edu	37	9	140051399	140051399	+	Missense_Mutation	SNP	A	A	T			TCGA-J9-A8CL-01A-11D-A34U-08	TCGA-J9-A8CL-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1f9f2e-7a09-4e2d-bb99-c881a34a8da2	e5a23b9d-18a0-4cb4-8743-3d53fc3c45b4	g.chr9:140051399A>T	ENST00000371561.3	+	6	1975	c.878A>T	c.(877-879)cAc>cTc	p.H293L	GRIN1_ENST00000471122.1_3'UTR|GRIN1_ENST00000371546.4_Missense_Mutation_p.H314L|GRIN1_ENST00000315048.3_Missense_Mutation_p.H293L|GRIN1_ENST00000371553.3_Missense_Mutation_p.H314L|GRIN1_ENST00000371560.3_Missense_Mutation_p.H314L|GRIN1_ENST00000371559.4_Missense_Mutation_p.H293L|GRIN1_ENST00000371555.4_Missense_Mutation_p.H314L|GRIN1_ENST00000350902.5_Missense_Mutation_p.H293L|GRIN1_ENST00000371550.4_Missense_Mutation_p.H293L	NM_007327.3	NP_015566.1	Q05586	NMDZ1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 1	293					adult locomotory behavior (GO:0008344)|calcium ion homeostasis (GO:0055074)|calcium ion transmembrane transport (GO:0070588)|cation transport (GO:0006812)|cellular calcium ion homeostasis (GO:0006874)|cellular response to manganese ion (GO:0071287)|cerebral cortex development (GO:0021987)|conditioned taste aversion (GO:0001661)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|long-term memory (GO:0007616)|male mating behavior (GO:0060179)|negative regulation of neuron apoptotic process (GO:0043524)|olfactory learning (GO:0008355)|pons maturation (GO:0021586)|positive regulation of apoptotic process (GO:0043065)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|prepulse inhibition (GO:0060134)|propylene metabolic process (GO:0018964)|protein tetramerization (GO:0051262)|regulation of axonogenesis (GO:0050770)|regulation of dendrite morphogenesis (GO:0048814)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of membrane potential (GO:0042391)|regulation of respiratory gaseous exchange (GO:0043576)|regulation of synapse assembly (GO:0051963)|respiratory gaseous exchange (GO:0007585)|response to amphetamine (GO:0001975)|response to calcium ion (GO:0051592)|response to ethanol (GO:0045471)|response to fungicide (GO:0060992)|response to morphine (GO:0043278)|rhythmic process (GO:0048511)|sensory perception of pain (GO:0019233)|social behavior (GO:0035176)|suckling behavior (GO:0001967)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|visual learning (GO:0008542)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|dendrite membrane (GO:0032590)|dendritic spine (GO:0043197)|endoplasmic reticulum (GO:0005783)|excitatory synapse (GO:0060076)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)|synaptic cleft (GO:0043083)|synaptic vesicle (GO:0008021)|terminal bouton (GO:0043195)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate binding (GO:0016595)|glycine binding (GO:0016594)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|neurotransmitter binding (GO:0042165)|voltage-gated cation channel activity (GO:0022843)			NS(1)|breast(1)|endometrium(1)|kidney(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0878)	OV - Ovarian serous cystadenocarcinoma(145;6.87e-05)|Epithelial(140;0.00095)	Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Gabapentin(DB00996)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Orphenadrine(DB01173)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	CAGGCCGTGCACGAGCTCCTC	0.672																																					NSCLC(113;717 1653 2089 20474 37618)	ENST00000371561.3																			0				NS(1)|breast(1)|endometrium(1)|kidney(1)|lung(7)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						c.(877-879)cAc>cTc		glutamate receptor, ionotropic, N-methyl D-aspartate 1	L-Glutamic Acid(DB00142)|Orphenadrine(DB01173)						30.0	32.0	31.0					9																	140051399		2195	4292	6487	SO:0001583	missense	2902				ionotropic glutamate receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter|regulation of excitatory postsynaptic membrane potential|response to ethanol|visual learning	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic density|postsynaptic membrane|synaptic vesicle|synaptosome	calcium ion binding|calmodulin binding|extracellular-glutamate-gated ion channel activity|glutamate binding|glycine binding	g.chr9:140051399A>T		CCDS7031.1, CCDS7032.1, CCDS43910.1, CCDS55354.1, CCDS55355.1	9q34.3	2013-01-11			ENSG00000176884	ENSG00000176884		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4584	protein-coding gene	gene with protein product		138249	"""N-methyl-D-aspartate receptor subunit NR1"""	NMDAR1		1350383	Standard	NM_000832		Approved	GluN1	uc004cln.3	Q05586	OTTHUMG00000020976	ENST00000371561.3:c.878A>T	9.37:g.140051399A>T	ENSP00000360616:p.His293Leu					GRIN1_ENST00000315048.3_Missense_Mutation_p.H293L|GRIN1_ENST00000471122.1_3'UTR|GRIN1_ENST00000371560.3_Missense_Mutation_p.H314L|GRIN1_ENST00000350902.5_Missense_Mutation_p.H293L|GRIN1_ENST00000371553.3_Missense_Mutation_p.H314L|GRIN1_ENST00000371559.4_Missense_Mutation_p.H293L|GRIN1_ENST00000371555.4_Missense_Mutation_p.H314L|GRIN1_ENST00000371550.4_Missense_Mutation_p.H293L|GRIN1_ENST00000371546.4_Missense_Mutation_p.H314L	p.H293L	NM_007327.3	NP_015566.1	Q05586	NMDZ1_HUMAN	STAD - Stomach adenocarcinoma(284;0.0878)	OV - Ovarian serous cystadenocarcinoma(145;6.87e-05)|Epithelial(140;0.00095)	6	1975	+	all_cancers(76;0.0926)		293					A6NLK7|A6NLR1|C9K0X1|P35437|Q12867|Q12868|Q5VSF3|Q5VSF4|Q5VSF5|Q5VSF6|Q5VSF7|Q5VSF8|Q9UPF8|Q9UPF9	Missense_Mutation	SNP	ENST00000371561.3	37	c.878A>T	CCDS7031.1	.	.	.	.	.	.	.	.	.	.	A	16.83	3.230665	0.58777	.	.	ENSG00000176884	ENST00000371561;ENST00000315048;ENST00000350902;ENST00000371550;ENST00000371546;ENST00000371555;ENST00000371553;ENST00000371559;ENST00000371560	D;D;D;D;D;D;D;D;D	0.83914	-1.78;-1.78;-1.78;-1.78;-1.78;-1.78;-1.78;-1.78;-1.78	4.65	4.65	0.58169	Extracellular ligand-binding receptor (1);	0.058926	0.64402	D	0.000002	T	0.65984	0.2744	N	0.03608	-0.345	0.58432	D	0.999996	B;B;B;B;B;B	0.21381	0.034;0.0;0.017;0.055;0.022;0.0	B;B;B;B;B;B	0.24006	0.05;0.001;0.008;0.013;0.013;0.003	T	0.64347	-0.6429	10	0.44086	T	0.13	.	12.8809	0.58015	1.0:0.0:0.0:0.0	.	314;314;293;293;293;293	Q5VSF4;Q5VSF5;Q05586-2;Q05586-3;Q05586;A2AVK2	.;.;.;.;NMDZ1_HUMAN;.	L	293;293;293;293;314;314;314;293;314	ENSP00000360616:H293L;ENSP00000316696:H293L;ENSP00000316915:H293L;ENSP00000360605:H293L;ENSP00000360601:H314L;ENSP00000360610:H314L;ENSP00000360608:H314L;ENSP00000360614:H293L;ENSP00000360615:H314L	ENSP00000316696:H293L	H	+	2	0	GRIN1	139171220	1.000000	0.71417	0.996000	0.52242	0.979000	0.70002	6.750000	0.74888	1.737000	0.51674	0.402000	0.26972	CAC		0.672	GRIN1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000055267.3	NM_007327		12	18	0	0	0	1	0	12	18				
ALDH6A1	4329	broad.mit.edu	37	14	74537998	74537998	+	Silent	SNP	T	T	C			TCGA-J9-A8CL-01A-11D-A34U-08	TCGA-J9-A8CL-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1f9f2e-7a09-4e2d-bb99-c881a34a8da2	e5a23b9d-18a0-4cb4-8743-3d53fc3c45b4	g.chr14:74537998T>C	ENST00000553458.1	-	6	728	c.630A>G	c.(628-630)ccA>ccG	p.P210P	ALDH6A1_ENST00000350259.4_Silent_p.P197P|ALDH6A1_ENST00000555126.1_5'Flank|CCDC176_ENST00000553773.1_Intron|AC005484.5_ENST00000492026.1_RNA|ALDH6A1_ENST00000556852.1_5'Flank	NM_001278593.1|NM_005589.2	NP_001265522.1|NP_005580.1	Q02252	MMSA_HUMAN	aldehyde dehydrogenase 6 family, member A1	210					branched-chain amino acid catabolic process (GO:0009083)|brown fat cell differentiation (GO:0050873)|cellular nitrogen compound metabolic process (GO:0034641)|small molecule metabolic process (GO:0044281)|thymine catabolic process (GO:0006210)|thymine metabolic process (GO:0019859)|valine catabolic process (GO:0006574)|valine metabolic process (GO:0006573)	extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	fatty-acyl-CoA binding (GO:0000062)|malonate-semialdehyde dehydrogenase (acetylating) activity (GO:0018478)|methylmalonate-semialdehyde dehydrogenase (acylating) activity (GO:0004491)|poly(A) RNA binding (GO:0044822)			NS(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|ovary(2)|prostate(3)|skin(3)	21				BRCA - Breast invasive adenocarcinoma(234;0.00354)		CTCGCTCAGATGGTTTCATTA	0.483																																						ENST00000553458.1																			0				NS(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(3)|ovary(2)|prostate(3)|skin(3)	21						c.(628-630)ccA>ccG		aldehyde dehydrogenase 6 family, member A1	NADH(DB00157)						87.0	81.0	83.0					14																	74537998		2203	4300	6503	SO:0001819	synonymous_variant	4329					mitochondrial matrix|nucleus	fatty-acyl-CoA binding|malonate-semialdehyde dehydrogenase (acetylating) activity|methylmalonate-semialdehyde dehydrogenase (acylating) activity	g.chr14:74537998T>C	M93405	CCDS9826.1, CCDS61501.1	14q24.3	2014-02-03			ENSG00000119711	ENSG00000119711	1.2.1.27	"""Aldehyde dehydrogenases"""	7179	protein-coding gene	gene with protein product		603178		MMSDH		1527093	Standard	NM_005589		Approved		uc001xpo.3	Q02252	OTTHUMG00000171203	ENST00000553458.1:c.630A>G	14.37:g.74537998T>C						ALDH6A1_ENST00000350259.4_Silent_p.P197P|CCDC176_ENST00000553773.1_Intron|AC005484.5_ENST00000492026.1_RNA	p.P210P	NM_001278593.1|NM_005589.2	NP_001265522.1|NP_005580.1	Q02252	MMSA_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00354)	6	728	-			210					B2R609|B4DFS8|J3KNU8|Q9UKM8	Silent	SNP	ENST00000553458.1	37	c.630A>G	CCDS9826.1																																																																																				0.483	ALDH6A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412309.1			22	36	0	0	0	1	0	22	36				
PTGIS	5740	broad.mit.edu	37	20	48166725	48166725	+	Splice_Site	SNP	G	G	A	rs147584032	byFrequency	TCGA-J9-A8CL-01A-11D-A34U-08	TCGA-J9-A8CL-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1f9f2e-7a09-4e2d-bb99-c881a34a8da2	e5a23b9d-18a0-4cb4-8743-3d53fc3c45b4	g.chr20:48166725G>A	ENST00000244043.4	-	2	105	c.76C>T	c.(76-78)Cga>Tga	p.R26*	PTGIS_ENST00000478971.1_5'UTR	NM_000961.3	NP_000952.1	Q16647	PTGIS_HUMAN	prostaglandin I2 (prostacyclin) synthase	26					apoptotic signaling pathway (GO:0097190)|arachidonic acid metabolic process (GO:0019369)|cellular response to hypoxia (GO:0071456)|cellular response to interleukin-1 (GO:0071347)|cellular response to interleukin-6 (GO:0071354)|cyclooxygenase pathway (GO:0019371)|icosanoid metabolic process (GO:0006690)|negative regulation of inflammatory response (GO:0050728)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of nitric oxide biosynthetic process (GO:0045019)|positive regulation of angiogenesis (GO:0045766)|positive regulation of execution phase of apoptosis (GO:1900119)|positive regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035360)|prostaglandin biosynthetic process (GO:0001516)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	caveola (GO:0005901)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|monooxygenase activity (GO:0004497)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen (GO:0016705)|prostaglandin-I synthase activity (GO:0008116)			endometrium(1)|kidney(1)|large_intestine(7)|lung(6)|ovary(3)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	27			BRCA - Breast invasive adenocarcinoma(12;2.37e-05)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)		Epoprostenol(DB01240)|Phenylbutazone(DB00812)	TCACCAGGTCGCCTACAGAAG	0.542																																						ENST00000244043.4																			0				endometrium(1)|kidney(1)|large_intestine(7)|lung(6)|ovary(3)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	27	GRCh37	CM972993	PTGIS	M	rs147584032	c.e2-1		prostaglandin I2 (prostacyclin) synthase	Phenylbutazone(DB00812)						66.0	60.0	62.0					20																	48166725		2203	4300	6503	SO:0001630	splice_region_variant	5740				hormone biosynthetic process|prostaglandin biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane	electron carrier activity|heme binding|monooxygenase activity|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen|prostaglandin-I synthase activity	g.chr20:48166725G>A		CCDS13419.1	20q13	2013-11-18			ENSG00000124212	ENSG00000124212	5.3.99.4	"""Cytochrome P450s"""	9603	protein-coding gene	gene with protein product	"""cytochrome P450, family 8, subfamily A, polypeptide 1"""	601699				8812456	Standard	NM_000961		Approved	PGIS, CYP8A1	uc002xut.3	Q16647	OTTHUMG00000033077	ENST00000244043.4:c.75-1C>T	20.37:g.48166725G>A						PTGIS_ENST00000478971.1_5'UTR	p.R26_splice	NM_000961.3	NP_000952.1	Q16647	PTGIS_HUMAN	BRCA - Breast invasive adenocarcinoma(12;2.37e-05)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)		2	105	-			26					Q3MII8|Q9HAX2|Q9HAX3|Q9HAX4	Splice_Site	SNP	ENST00000244043.4	37	c.74_splice	CCDS13419.1	.	.	.	.	.	.	.	.	.	.	G	14.07	2.425905	0.43020	.	.	ENSG00000124212	ENST00000244043	.	.	.	4.82	2.5	0.30297	.	0.378699	0.25112	N	0.033051	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-26.1244	12.9552	0.58424	0.0:0.0:0.648:0.3519	.	.	.	.	X	26	.	ENSP00000244043:R26X	R	-	1	2	PTGIS	47600132	0.992000	0.36948	1.000000	0.80357	0.012000	0.07955	0.829000	0.27449	0.936000	0.37367	0.462000	0.41574	CGA		0.542	PTGIS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080496.2		Nonsense_Mutation	9	37	0	0	0	1	0	9	37				
BRD1	23774	broad.mit.edu	37	22	50217771	50217771	+	Silent	SNP	G	G	A			TCGA-J9-A8CL-01A-11D-A34U-08	TCGA-J9-A8CL-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1f9f2e-7a09-4e2d-bb99-c881a34a8da2	e5a23b9d-18a0-4cb4-8743-3d53fc3c45b4	g.chr22:50217771G>A	ENST00000216267.8	-	1	681	c.195C>T	c.(193-195)ctC>ctT	p.L65L	BRD1_ENST00000404034.1_Silent_p.L65L|BRD1_ENST00000459821.1_5'Flank|BRD1_ENST00000542442.1_5'Flank|BRD1_ENST00000342989.5_5'Flank|BRD1_ENST00000404760.1_Silent_p.L65L|BRD1_ENST00000457780.2_Silent_p.L65L	NM_014577.1	NP_055392.1	O95696	BRD1_HUMAN	bromodomain containing 1	65					histone H3 acetylation (GO:0043966)	MOZ/MORF histone acetyltransferase complex (GO:0070776)|nucleus (GO:0005634)	histone binding (GO:0042393)|zinc ion binding (GO:0008270)			endometrium(6)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	37		all_cancers(38;6.11e-10)|all_epithelial(38;8.06e-09)|all_lung(38;6.64e-05)|Lung NSC(38;0.0011)|Breast(42;0.00235)|Ovarian(80;0.0139)|Lung SC(80;0.164)		UCEC - Uterine corpus endometrioid carcinoma (28;0.0369)|BRCA - Breast invasive adenocarcinoma(115;0.21)		CTTGAGCAGTGAGGTCATCTT	0.458																																						ENST00000216267.8																			0				endometrium(6)|kidney(3)|large_intestine(5)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|skin(1)	37						c.(193-195)ctC>ctT		bromodomain containing 1							121.0	118.0	119.0					22																	50217771		2203	4300	6503	SO:0001819	synonymous_variant	23774				histone H3 acetylation	MOZ/MORF histone acetyltransferase complex	zinc ion binding	g.chr22:50217771G>A	AF005067	CCDS14080.1	22q13.33	2008-07-01	2002-01-14		ENSG00000100425	ENSG00000100425			1102	protein-coding gene	gene with protein product	"""BR140-like"""	604589	"""bromodomain-containing 1"""			10591208, 10602503	Standard	NM_014577		Approved	BRL, BRPF2	uc003biv.3	O95696	OTTHUMG00000150288	ENST00000216267.8:c.195C>T	22.37:g.50217771G>A						BRD1_ENST00000404034.1_Silent_p.L65L|BRD1_ENST00000404760.1_Silent_p.L65L|BRD1_ENST00000457780.2_Silent_p.L65L	p.L65L	NM_014577.1	NP_055392.1	O95696	BRD1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.0369)|BRCA - Breast invasive adenocarcinoma(115;0.21)	1	681	-		all_cancers(38;6.11e-10)|all_epithelial(38;8.06e-09)|all_lung(38;6.64e-05)|Lung NSC(38;0.0011)|Breast(42;0.00235)|Ovarian(80;0.0139)|Lung SC(80;0.164)	65					A6ZJA4	Silent	SNP	ENST00000216267.8	37	c.195C>T	CCDS14080.1																																																																																				0.458	BRD1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317402.1	NM_014577		35	48	0	0	0	1	0	35	48				
SYN2	6854	broad.mit.edu	37	3	12187209	12187209	+	RNA	SNP	G	G	A			TCGA-J9-A8CL-01A-11D-A34U-08	TCGA-J9-A8CL-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1f9f2e-7a09-4e2d-bb99-c881a34a8da2	e5a23b9d-18a0-4cb4-8743-3d53fc3c45b4	g.chr3:12187209G>A	ENST00000432424.2	+	0	730							Q92777	SYN2_HUMAN	synapsin II						neurotransmitter secretion (GO:0007269)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|synaptic vesicle (GO:0008021)	ATP binding (GO:0005524)|catalytic activity (GO:0003824)			breast(5)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1)	18						TGCTCATCCGGCAGCATGCAT	0.522																																						ENST00000432424.2																			0				breast(5)|central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1)	18								synapsin II							69.0	67.0	67.0					3																	12187209		2023	4206	6229			6854				neurotransmitter secretion	synaptic vesicle	ATP binding|ligase activity	g.chr3:12187209G>A		CCDS74900.1, CCDS74901.1	3p25.2	2013-09-20			ENSG00000157152	ENSG00000157152			11495	protein-coding gene	gene with protein product		600755				8530057	Standard	XM_006713311		Approved	SYNII, SYNIIa, SYNIIb	uc003bwm.3	Q92777	OTTHUMG00000155335		3.37:g.12187209G>A										Q86VA8	Q86VA8_HUMAN			0	730	+								A8MY98	RNA	SNP	ENST00000432424.2	37																																																																																						0.522	SYN2-002	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000339528.3	NM_133625		3	42	0	0	0	1	0	3	42				
SPHKAP	80309	broad.mit.edu	37	2	228890233	228890233	+	Silent	SNP	G	G	A			TCGA-J9-A8CL-01A-11D-A34U-08	TCGA-J9-A8CL-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1f9f2e-7a09-4e2d-bb99-c881a34a8da2	e5a23b9d-18a0-4cb4-8743-3d53fc3c45b4	g.chr2:228890233G>A	ENST00000392056.3	-	5	364	c.318C>T	c.(316-318)aaC>aaT	p.N106N	SPHKAP_ENST00000344657.5_Silent_p.N106N	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN	SPHK1 interactor, AKAP domain containing	106						extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|Z disc (GO:0030018)	protein kinase A binding (GO:0051018)			NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)		CTGGTGAAACGTTGACCAGTT	0.348																																						ENST00000392056.3																			0				NS(5)|breast(5)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(25)|lung(86)|ovary(6)|pancreas(1)|prostate(6)|skin(17)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	185						c.(316-318)aaC>aaT		SPHK1 interactor, AKAP domain containing							104.0	101.0	102.0					2																	228890233		2203	4300	6503	SO:0001819	synonymous_variant	80309					cytoplasm	protein binding	g.chr2:228890233G>A		CCDS33389.1, CCDS46537.1	2q36.3	2010-08-20			ENSG00000153820	ENSG00000153820		"""A-kinase anchor proteins"""	30619	protein-coding gene	gene with protein product	"""sphingosine kinase type 1-interacting protein"""	611646				12080051, 11214970	Standard	NM_030623		Approved	SKIP	uc002vpq.2	Q2M3C7	OTTHUMG00000153584	ENST00000392056.3:c.318C>T	2.37:g.228890233G>A						SPHKAP_ENST00000344657.5_Silent_p.N106N	p.N106N	NM_001142644.1	NP_001136116.1	Q2M3C7	SPKAP_HUMAN		Epithelial(121;8.17e-11)|all cancers(144;7.92e-08)|Lung(261;0.0168)|LUSC - Lung squamous cell carcinoma(224;0.0232)	5	364	-		Renal(207;0.025)|all_hematologic(139;0.15)|all_lung(227;0.204)|Acute lymphoblastic leukemia(138;0.205)|Esophageal squamous(248;0.23)	106					Q68DA3|Q68DR8|Q9C0I5	Silent	SNP	ENST00000392056.3	37	c.318C>T	CCDS46537.1																																																																																				0.348	SPHKAP-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000331750.1	NM_030623		13	56	0	0	0	1	0	13	56				
KALRN	8997	broad.mit.edu	37	3	124374511	124374511	+	Silent	SNP	G	G	T			TCGA-J9-A8CL-01A-11D-A34U-08	TCGA-J9-A8CL-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1f9f2e-7a09-4e2d-bb99-c881a34a8da2	e5a23b9d-18a0-4cb4-8743-3d53fc3c45b4	g.chr3:124374511G>T	ENST00000291478.5	+	6	928	c.765G>T	c.(763-765)gtG>gtT	p.V255V	KALRN_ENST00000393496.1_Silent_p.V293V|KALRN_ENST00000459915.1_Silent_p.V44V|KALRN_ENST00000428018.2_Silent_p.V223V|KALRN_ENST00000360013.3_Silent_p.V1952V	NM_007064.3	NP_008995.2	O60229	KALRN_HUMAN	kalirin, RhoGEF kinase	1951					apoptotic signaling pathway (GO:0097190)|intracellular signal transduction (GO:0035556)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of GTPase activity (GO:0043547)|protein phosphorylation (GO:0006468)|regulation of small GTPase mediated signal transduction (GO:0051056)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						GCATTGTGGTGGAGGTAAGTA	0.493																																						ENST00000360013.3																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(21)|lung(28)|ovary(4)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	83						c.(5854-5856)gtG>gtT		kalirin, RhoGEF kinase							205.0	186.0	192.0					3																	124374511		2203	4300	6503	SO:0001819	synonymous_variant	8997				apoptosis|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction|vesicle-mediated transport	actin cytoskeleton|cytosol	ATP binding|GTPase activator activity|metal ion binding|protein binding|protein serine/threonine kinase activity|Rho guanyl-nucleotide exchange factor activity	g.chr3:124374511G>T	U94190	CCDS3027.1, CCDS3028.1	3q21.2	2013-02-11	2005-03-11	2005-03-12	ENSG00000160145	ENSG00000160145		"""Rho guanine nucleotide exchange factors"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	4814	protein-coding gene	gene with protein product	"""serine/threonine kinase with Dbl and pleckstrin homology domains"""	604605	"""huntingtin-associated protein interacting protein (duo)"""	HAPIP		9285789, 10023074	Standard	NM_001024660		Approved	duo, Hs.8004, TRAD, DUET, Kalirin, ARHGEF24	uc003ehd.3	O60229	OTTHUMG00000125545	ENST00000291478.5:c.765G>T	3.37:g.124374511G>T						KALRN_ENST00000428018.2_Silent_p.V223V|KALRN_ENST00000459915.1_Silent_p.V44V|KALRN_ENST00000291478.4_Silent_p.V255V|KALRN_ENST00000393496.1_Silent_p.V293V	p.V1952V	NM_001024660.3	NP_001019831.2	O60229	KALRN_HUMAN			39	5983	+			1951			DH 2.		A8MSI4|C9JQ37|Q6ZN45|Q8TBQ5|Q9NSZ4|Q9Y2A5	Silent	SNP	ENST00000291478.5	37	c.5856G>T	CCDS3028.1	.	.	.	.	.	.	.	.	.	.	G	9.869	1.198323	0.22037	.	.	ENSG00000160145	ENST00000354186	.	.	.	5.42	2.69	0.31865	.	.	.	.	.	T	0.58032	0.2094	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.51116	-0.8746	4	.	.	.	.	8.7913	0.34852	0.2912:0.0:0.7088:0.0	.	.	.	.	L	1921	.	.	W	+	2	0	KALRN	125857201	1.000000	0.71417	1.000000	0.80357	0.906000	0.53458	1.639000	0.37176	0.427000	0.26145	-0.136000	0.14681	TGG		0.493	KALRN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000246891.5	NM_003947		8	62	1	0	0.335167	1	0.338933	8	62				
PKHD1L1	93035	broad.mit.edu	37	8	110412425	110412425	+	Missense_Mutation	SNP	C	C	A			TCGA-J9-A8CL-01A-11D-A34U-08	TCGA-J9-A8CL-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1f9f2e-7a09-4e2d-bb99-c881a34a8da2	e5a23b9d-18a0-4cb4-8743-3d53fc3c45b4	g.chr8:110412425C>A	ENST00000378402.5	+	13	1237	c.1133C>A	c.(1132-1134)tCc>tAc	p.S378Y		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	378					immune response (GO:0006955)	cytosol (GO:0005829)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			GATTCAGCTTCCTATATTTGG	0.423										HNSCC(38;0.096)																												ENST00000378402.5																			0				NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263						c.(1132-1134)tCc>tAc		polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1							368.0	357.0	361.0					8																	110412425		1888	4106	5994	SO:0001583	missense	93035				immune response	cytosol|extracellular space|integral to membrane	receptor activity	g.chr8:110412425C>A	AY219181	CCDS47911.1	8q23	2003-03-28			ENSG00000205038	ENSG00000205038			20313	protein-coding gene	gene with protein product		607843				12620974	Standard	NM_177531		Approved		uc003yne.3	Q86WI1	OTTHUMG00000164934	ENST00000378402.5:c.1133C>A	8.37:g.110412425C>A	ENSP00000367655:p.Ser378Tyr	HNSCC(38;0.096)					p.S378Y	NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)		13	1237	+			378					Q567P2|Q9UF27	Missense_Mutation	SNP	ENST00000378402.5	37	c.1133C>A	CCDS47911.1	.	.	.	.	.	.	.	.	.	.	C	15.21	2.766348	0.49574	.	.	ENSG00000205038	ENST00000378402	T	0.24350	1.86	5.32	3.49	0.39957	PA14 (1);	0.077494	0.53938	D	0.000051	T	0.28532	0.0706	L	0.55743	1.74	0.29908	N	0.823843	B	0.25850	0.136	B	0.32805	0.153	T	0.25187	-1.0139	10	0.66056	D	0.02	.	12.4059	0.55439	0.3062:0.6938:0.0:0.0	.	378	Q86WI1	PKHL1_HUMAN	Y	378	ENSP00000367655:S378Y	ENSP00000367655:S378Y	S	+	2	0	PKHD1L1	110481601	0.995000	0.38212	0.991000	0.47740	0.404000	0.30871	4.171000	0.58236	0.587000	0.29643	-0.311000	0.09066	TCC		0.423	PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381017.1	NM_177531		19	350	1	0	1.28384e-07	1	1.44432e-07	19	350				
ZNF99	7652	broad.mit.edu	37	19	22941153	22941153	+	Missense_Mutation	SNP	G	G	T			TCGA-J9-A8CL-01A-11D-A34U-08	TCGA-J9-A8CL-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1f9f2e-7a09-4e2d-bb99-c881a34a8da2	e5a23b9d-18a0-4cb4-8743-3d53fc3c45b4	g.chr19:22941153G>T	ENST00000596209.1	-	4	1648	c.1558C>A	c.(1558-1560)Cat>Aat	p.H520N	ZNF99_ENST00000397104.3_Missense_Mutation_p.H429N	NM_001080409.2	NP_001073878.2	A8MXY4	ZNF99_HUMAN	zinc finger protein 99	520					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				GCTGAGAAATGCTTAAAAGCT	0.348																																						ENST00000397104.3																			0				NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124						c.(1285-1287)Cat>Aat		zinc finger protein 99							36.0	37.0	37.0					19																	22941153		2010	4189	6199	SO:0001583	missense	7652							g.chr19:22941153G>T	BC021822	CCDS59369.1	19p12	2013-01-08	2006-01-17		ENSG00000213973	ENSG00000213973		"""Zinc fingers, C2H2-type"", ""-"""	13175	protein-coding gene	gene with protein product		603981	"""zinc finger protein 99 (F8281)"", ""chromosome 19 open reading frame 9"""	C19orf9			Standard	NM_001080409		Approved	MGC24986	uc021urt.1	A8MXY4		ENST00000596209.1:c.1558C>A	19.37:g.22941153G>T	ENSP00000472969:p.His520Asn					ZNF99_ENST00000596209.1_Missense_Mutation_p.H520N	p.H429N							5	1284	-		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)						M0R335	Missense_Mutation	SNP	ENST00000596209.1	37	c.1285C>A	CCDS59369.1	.	.	.	.	.	.	.	.	.	.	-	0.161	-1.081278	0.01888	.	.	ENSG00000213973	ENST00000397104	T	0.10382	2.88	1.16	-0.372	0.12520	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.08268	0.0206	L	0.39633	1.23	0.09310	N	1	B	0.22683	0.073	B	0.25759	0.063	T	0.41197	-0.9522	9	0.25751	T	0.34	.	5.4325	0.16460	0.3788:0.0:0.6212:0.0	.	429	A8MXY4	ZNF99_HUMAN	N	429	ENSP00000380293:H429N	ENSP00000380293:H429N	H	-	1	0	ZNF99	22732993	0.000000	0.05858	0.003000	0.11579	0.190000	0.23558	-4.116000	0.00292	-0.259000	0.09432	0.194000	0.17425	CAT		0.348	ZNF99-001	NOVEL	not_best_in_genome_evidence|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000464591.1	XM_065124		19	31	1	0	6.94344e-10	1	8.01167e-10	19	31				
NCSTN	23385	broad.mit.edu	37	1	160321118	160321118	+	Missense_Mutation	SNP	G	G	C			TCGA-J9-A8CL-01A-11D-A34U-08	TCGA-J9-A8CL-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1f9f2e-7a09-4e2d-bb99-c881a34a8da2	e5a23b9d-18a0-4cb4-8743-3d53fc3c45b4	g.chr1:160321118G>C	ENST00000294785.5	+	6	814	c.689G>C	c.(688-690)tGc>tCc	p.C230S	NCSTN_ENST00000535857.1_Intron|NCSTN_ENST00000368063.1_Missense_Mutation_p.C210S|NCSTN_ENST00000368065.4_Intron|NCSTN_ENST00000392212.4_Missense_Mutation_p.C210S|NCSTN_ENST00000459963.1_Intron	NM_015331.2	NP_056146.1	Q92542	NICA_HUMAN	nicastrin	230					amyloid precursor protein catabolic process (GO:0042987)|apoptotic signaling pathway (GO:0097190)|beta-amyloid metabolic process (GO:0050435)|epithelial cell proliferation (GO:0050673)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|membrane protein ectodomain proteolysis (GO:0006509)|membrane protein intracellular domain proteolysis (GO:0031293)|myeloid cell homeostasis (GO:0002262)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|positive regulation of apoptotic process (GO:0043065)|positive regulation of catalytic activity (GO:0043085)|protein processing (GO:0016485)|proteolysis (GO:0006508)|T cell proliferation (GO:0042098)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|plasma membrane (GO:0005886)	endopeptidase activity (GO:0004175)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(2)	34	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			ACTGCCACCTGCATGCGGCGC	0.537																																						ENST00000368063.1																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|skin(2)	34						c.(628-630)tGc>tCc		nicastrin							115.0	85.0	96.0					1																	160321118		2203	4300	6503	SO:0001583	missense	23385				amyloid precursor protein catabolic process|apoptosis|induction of apoptosis by extracellular signals|membrane protein ectodomain proteolysis|membrane protein intracellular domain proteolysis|nerve growth factor receptor signaling pathway|Notch receptor processing|Notch signaling pathway|positive regulation of catalytic activity|protein processing	endoplasmic reticulum|Golgi apparatus|integral to plasma membrane|melanosome	protein binding	g.chr1:160321118G>C	AF240468	CCDS1203.1	1q22-q23	2014-09-17			ENSG00000162736	ENSG00000162736			17091	protein-coding gene	gene with protein product		605254				9039502, 10993067	Standard	XM_005245053		Approved	KIAA0253, APH2	uc001fvx.3	Q92542	OTTHUMG00000033110	ENST00000294785.5:c.689G>C	1.37:g.160321118G>C	ENSP00000294785:p.Cys230Ser					NCSTN_ENST00000392212.4_Missense_Mutation_p.C210S|NCSTN_ENST00000368065.4_Intron|NCSTN_ENST00000535857.1_Intron|NCSTN_ENST00000459963.1_Intron|NCSTN_ENST00000294785.5_Missense_Mutation_p.C230S	p.C210S			Q92542	NICA_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.111)		7	909	+	all_cancers(52;8.15e-18)|all_hematologic(112;0.093)		230					Q5T207|Q5T208|Q86VV5	Missense_Mutation	SNP	ENST00000294785.5	37	c.629G>C	CCDS1203.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	24.7|24.7	4.561574|4.561574	0.86335|0.86335	.|.	.|.	ENSG00000162736|ENSG00000162736	ENST00000424645|ENST00000294785;ENST00000368063;ENST00000392212	.|D;D;D	.|0.84800	.|-1.9;-1.9;-1.9	5.01|5.01	5.01|5.01	0.66863|0.66863	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	D|D	0.91855|0.91855	0.7422|0.7422	M|M	0.85373|0.85373	2.75|2.75	0.80722|0.80722	D|D	1|1	.|D;D	.|0.89917	.|1.0;1.0	.|D;D	.|0.91635	.|0.999;0.998	D|D	0.92647|0.92647	0.6129|0.6129	5|10	.|0.72032	.|D	.|0.01	-21.1804|-21.1804	15.1734|15.1734	0.72894|0.72894	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|210;230	.|Q92542-2;Q92542	.|.;NICA_HUMAN	P|S	66|230;210;210	.|ENSP00000294785:C230S;ENSP00000357042:C210S;ENSP00000376047:C210S	.|ENSP00000294785:C230S	A|C	+|+	1|2	0|0	NCSTN|NCSTN	158587742|158587742	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.936000|0.936000	0.57629|0.57629	8.241000|8.241000	0.89816|0.89816	2.606000|2.606000	0.88127|0.88127	0.655000|0.655000	0.94253|0.94253	GCA|TGC		0.537	NCSTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080622.1	NM_015331		4	23	0	0	0	1	0	4	23				
GIF	2694	broad.mit.edu	37	11	59611368	59611368	+	Missense_Mutation	SNP	C	C	T			TCGA-J9-A8CL-01A-11D-A34U-08	TCGA-J9-A8CL-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1f9f2e-7a09-4e2d-bb99-c881a34a8da2	e5a23b9d-18a0-4cb4-8743-3d53fc3c45b4	g.chr11:59611368C>T	ENST00000257248.2	-	2	287	c.240G>A	c.(238-240)atG>atA	p.M80I	GIF_ENST00000541311.1_Missense_Mutation_p.M55I	NM_005142.2	NP_005133.2	P27352	IF_HUMAN	gastric intrinsic factor (vitamin B synthesis)	80					cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|cobalt ion transport (GO:0006824)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|endosome (GO:0005768)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|lysosomal lumen (GO:0043202)|microvillus (GO:0005902)	cobalamin binding (GO:0031419)			large_intestine(4)|liver(1)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	17					Cyanocobalamin(DB00115)	TGTCGCTGGACATGAGCTGGT	0.542																																					NSCLC(53;1139 1245 16872 38474 42853)	ENST00000541311.1																			0				large_intestine(4)|liver(1)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	17						c.(163-165)atG>atA		gastric intrinsic factor (vitamin B synthesis)							106.0	91.0	96.0					11																	59611368		2201	4295	6496	SO:0001583	missense	2694				cobalamin metabolic process|cobalamin transport|cobalt ion transport	apical plasma membrane|endosome|extracellular space|microvillus	cobalamin binding	g.chr11:59611368C>T	X76562	CCDS7977.1	11q12.1	2013-09-20			ENSG00000134812	ENSG00000134812			4268	protein-coding gene	gene with protein product		609342				2071148	Standard	NM_005142		Approved	TCN3, IF, IFMH, INF	uc001noi.3	P27352	OTTHUMG00000167399	ENST00000257248.2:c.240G>A	11.37:g.59611368C>T	ENSP00000257248:p.Met80Ile					GIF_ENST00000257248.2_Missense_Mutation_p.M80I	p.M55I			P27352	IF_HUMAN			2	399	-			80					B2RAN8|B4DVZ1	Missense_Mutation	SNP	ENST00000257248.2	37	c.165G>A	CCDS7977.1	.	.	.	.	.	.	.	.	.	.	C	3.901	-0.022068	0.07634	.	.	ENSG00000134812	ENST00000257248;ENST00000541311	T;T	0.35236	1.32;1.32	5.2	3.3	0.37823	.	0.507343	0.21201	N	0.078466	T	0.14917	0.0360	N	0.03608	-0.345	0.32188	N	0.579444	B;B	0.10296	0.003;0.001	B;B	0.08055	0.003;0.002	T	0.09015	-1.0694	10	0.31617	T	0.26	-7.8007	7.1627	0.25672	0.0:0.8006:0.0:0.1994	.	80;80	B4DVY6;P27352	.;IF_HUMAN	I	80;55	ENSP00000257248:M80I;ENSP00000440427:M55I	ENSP00000257248:M80I	M	-	3	0	GIF	59367944	0.174000	0.23070	1.000000	0.80357	0.151000	0.21798	0.251000	0.18257	1.323000	0.45263	0.655000	0.94253	ATG		0.542	GIF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394497.1	NM_005142		5	22	0	0	0	1	0	5	22				
TRAPPC9	83696	broad.mit.edu	37	8	141310581	141310581	+	Silent	SNP	C	C	G			TCGA-J9-A8CL-01A-11D-A34U-08	TCGA-J9-A8CL-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1f9f2e-7a09-4e2d-bb99-c881a34a8da2	e5a23b9d-18a0-4cb4-8743-3d53fc3c45b4	g.chr8:141310581C>G	ENST00000438773.2	-	11	1888	c.1755G>C	c.(1753-1755)cgG>cgC	p.R585R	TRAPPC9_ENST00000389328.4_Silent_p.R683R|TRAPPC9_ENST00000389327.3_Silent_p.R576R	NM_001160372.1	NP_001153844.1	Q96Q05	TPPC9_HUMAN	trafficking protein particle complex 9	585					cell differentiation (GO:0030154)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)				breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	47						TTTTCTTGTTCCGCTCTTCTC	0.463																																						ENST00000389328.4																			0				breast(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	47						c.(2047-2049)cgG>cgC		trafficking protein particle complex 9							293.0	224.0	248.0					8																	141310581		2203	4300	6503	SO:0001819	synonymous_variant	83696				cell differentiation	endoplasmic reticulum|Golgi apparatus		g.chr8:141310581C>G	BC006206	CCDS34946.1, CCDS55278.1	8q24.3	2010-10-22			ENSG00000167632	ENSG00000167632		"""Trafficking protein particle complex"""	30832	protein-coding gene	gene with protein product	"""TRAPP 120 kDa subunit"", ""tularik gene 1"""	611966				11572484	Standard	NM_031466		Approved	IKBKBBP, NIBP, KIAA1882, T1, TRS120, MRT13	uc003yvh.2	Q96Q05	OTTHUMG00000164187	ENST00000438773.2:c.1755G>C	8.37:g.141310581C>G						TRAPPC9_ENST00000389327.3_Silent_p.R576R|TRAPPC9_ENST00000438773.2_Silent_p.R585R	p.R683R	NM_031466.5	NP_113654.4	Q96Q05	TPPC9_HUMAN			11	2063	-			585					Q4VTT3|Q658K7|Q6P149|Q6ZQT3|Q7L5C4|Q86Y21|Q96SL2|Q9BQA2	Silent	SNP	ENST00000438773.2	37	c.2049G>C	CCDS55278.1	.	.	.	.	.	.	.	.	.	.	C	8.587	0.883609	0.17467	.	.	ENSG00000167632	ENST00000520857	.	.	.	5.66	-9.5	0.00584	.	.	.	.	.	T	0.47948	0.1473	.	.	.	0.40525	D	0.980873	.	.	.	.	.	.	T	0.57906	-0.7730	4	.	.	.	.	9.8349	0.40963	0.1561:0.1651:0.6021:0.0767	.	.	.	.	Q	429	.	.	E	-	1	0	TRAPPC9	141379763	0.000000	0.05858	0.000000	0.03702	0.985000	0.73830	-0.619000	0.05572	-1.857000	0.01159	-0.150000	0.13652	GAA		0.463	TRAPPC9-002	PUTATIVE	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000377749.1	NM_031466		3	63	0	0	0	1	0	3	63				
SUOX	6821	broad.mit.edu	37	12	56397664	56397664	+	Missense_Mutation	SNP	A	A	T			TCGA-J9-A8CL-01A-11D-A34U-08	TCGA-J9-A8CL-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1f9f2e-7a09-4e2d-bb99-c881a34a8da2	e5a23b9d-18a0-4cb4-8743-3d53fc3c45b4	g.chr12:56397664A>T	ENST00000394109.3	+	3	1215	c.491A>T	c.(490-492)gAc>gTc	p.D164V	SUOX_ENST00000551841.2_Intron|SUOX_ENST00000548274.1_Missense_Mutation_p.D164V|SUOX_ENST00000266971.3_Missense_Mutation_p.D164V|SUOX_ENST00000394115.2_Missense_Mutation_p.D164V|SUOX_ENST00000550478.1_3'UTR|SUOX_ENST00000356124.4_Missense_Mutation_p.D164V			P51687	SUOX_HUMAN	sulfite oxidase	164					cellular nitrogen compound metabolic process (GO:0034641)|small molecule metabolic process (GO:0044281)|sulfide oxidation, using sulfide:quinone oxidoreductase (GO:0070221)|sulfur amino acid catabolic process (GO:0000098)|sulfur amino acid metabolic process (GO:0000096)	mitochondrial matrix (GO:0005759)	electron carrier activity (GO:0009055)|heme binding (GO:0020037)|molybdenum ion binding (GO:0030151)|molybdopterin cofactor binding (GO:0043546)|sulfite oxidase activity (GO:0008482)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(6)	15			UCEC - Uterine corpus endometrioid carcinoma (6;0.0471)|OV - Ovarian serous cystadenocarcinoma(18;0.119)			AATCCTGAAGACAAGGTAGCC	0.562																																						ENST00000394109.3																			0				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(6)	15						c.(490-492)gAc>gTc		sulfite oxidase							82.0	80.0	80.0					12																	56397664		2203	4300	6503	SO:0001583	missense	6821					mitochondrial intermembrane space	electron carrier activity|molybdenum ion binding|sulfite oxidase activity	g.chr12:56397664A>T	BC065193	CCDS8901.2	12q13.13	2011-02-10			ENSG00000139531	ENSG00000139531	1.8.3.1		11460	protein-coding gene	gene with protein product		606887				7599189	Standard	XM_005269112		Approved		uc001siz.3	P51687	OTTHUMG00000128503	ENST00000394109.3:c.491A>T	12.37:g.56397664A>T	ENSP00000377668:p.Asp164Val					SUOX_ENST00000550478.1_3'UTR|SUOX_ENST00000356124.4_Missense_Mutation_p.D164V|SUOX_ENST00000551841.2_Intron|SUOX_ENST00000266971.3_Missense_Mutation_p.D164V|SUOX_ENST00000548274.1_Missense_Mutation_p.D164V|SUOX_ENST00000394115.2_Missense_Mutation_p.D164V	p.D164V			P51687	SUOX_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (6;0.0471)|OV - Ovarian serous cystadenocarcinoma(18;0.119)		3	1215	+			164						Missense_Mutation	SNP	ENST00000394109.3	37	c.491A>T	CCDS8901.2	.	.	.	.	.	.	.	.	.	.	A	8.879	0.951282	0.18431	.	.	ENSG00000139531	ENST00000356124;ENST00000266971;ENST00000394115;ENST00000548274;ENST00000394109	D;D;D;D;D	0.92397	-3.03;-3.03;-3.03;-3.03;-3.03	4.46	4.46	0.54185	Cytochrome b5 (2);	0.228491	0.42964	D	0.000621	D	0.89777	0.6813	L	0.58101	1.795	0.58432	D	0.999999	B	0.11235	0.004	B	0.11329	0.006	D	0.87200	0.2240	10	0.46703	T	0.11	-8.2029	13.6785	0.62469	1.0:0.0:0.0:0.0	.	164	P51687	SUOX_HUMAN	V	164	ENSP00000348440:D164V;ENSP00000266971:D164V;ENSP00000377674:D164V;ENSP00000450245:D164V;ENSP00000377668:D164V	ENSP00000266971:D164V	D	+	2	0	SUOX	54683931	0.999000	0.42202	0.518000	0.27811	0.417000	0.31264	4.108000	0.57817	2.233000	0.73108	0.533000	0.62120	GAC		0.562	SUOX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250309.1	NM_000456		7	59	0	0	0	1	0	7	59				
MYH6	4624	broad.mit.edu	37	14	23851721	23851721	+	Missense_Mutation	SNP	C	C	G			TCGA-J9-A8CL-01A-11D-A34U-08	TCGA-J9-A8CL-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1f9f2e-7a09-4e2d-bb99-c881a34a8da2	e5a23b9d-18a0-4cb4-8743-3d53fc3c45b4	g.chr14:23851721C>G	ENST00000356287.3	-	37	5741	c.5712G>C	c.(5710-5712)gaG>gaC	p.E1904D	MYH6_ENST00000405093.3_Missense_Mutation_p.E1904D			P13533	MYH6_HUMAN	myosin, heavy chain 6, cardiac muscle, alpha	1904					adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|atrial cardiac muscle tissue morphogenesis (GO:0055009)|BMP signaling pathway (GO:0030509)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle fiber development (GO:0048739)|in utero embryonic development (GO:0001701)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|myofibril assembly (GO:0030239)|regulation of ATPase activity (GO:0043462)|regulation of blood pressure (GO:0008217)|regulation of heart contraction (GO:0008016)|regulation of heart growth (GO:0060420)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|sarcomere organization (GO:0045214)|striated muscle contraction (GO:0006941)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visceral muscle development (GO:0007522)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin complex (GO:0016459)|myosin filament (GO:0032982)|nucleus (GO:0005634)|sarcomere (GO:0030017)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|protein kinase binding (GO:0019901)			breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		CCTCATCCAGCTCATGCTGCA	0.607																																						ENST00000405093.3																			0				breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119						c.(5710-5712)gaG>gaC		myosin, heavy chain 6, cardiac muscle, alpha							185.0	159.0	168.0					14																	23851721		2203	4300	6503	SO:0001583	missense	4624				adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle	g.chr14:23851721C>G	D00943	CCDS9600.1	14q11.2-q13	2014-09-17	2008-08-01		ENSG00000197616	ENSG00000197616		"""Myosins / Myosin superfamily : Class II"""	7576	protein-coding gene	gene with protein product	"""cardiomyopathy, hypertrophic 1"""	160710	"""myosin, heavy polypeptide 6, cardiac muscle, alpha (cardiomyopathy, hypertrophic 1)"""			2144212	Standard	NM_002471		Approved		uc001wjv.3	P13533	OTTHUMG00000028753	ENST00000356287.3:c.5712G>C	14.37:g.23851721C>G	ENSP00000348634:p.Glu1904Asp					MYH6_ENST00000356287.3_Missense_Mutation_p.E1904D	p.E1904D	NM_002471.3	NP_002462.2	P13533	MYH6_HUMAN		GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)	38	5782	-	all_cancers(95;2.54e-05)		1904					A2RTX1|D9YZU2|Q13943|Q14906|Q14907	Missense_Mutation	SNP	ENST00000356287.3	37	c.5712G>C	CCDS9600.1	.	.	.	.	.	.	.	.	.	.	C	20.9	4.069530	0.76301	.	.	ENSG00000197616	ENST00000405093;ENST00000356287	T;T	0.77877	-1.13;-1.13	4.05	3.16	0.36331	Myosin tail (1);	.	.	.	.	D	0.84719	0.5534	M	0.82823	2.61	0.47374	D	0.9994	D	0.55800	0.973	P	0.59546	0.859	D	0.84544	0.0640	9	0.59425	D	0.04	.	8.3655	0.32385	0.0:0.8158:0.0:0.1842	.	1904	P13533	MYH6_HUMAN	D	1904	ENSP00000386041:E1904D;ENSP00000348634:E1904D	ENSP00000348634:E1904D	E	-	3	2	MYH6	22921561	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.084000	0.41625	1.049000	0.40321	0.561000	0.74099	GAG		0.607	MYH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071796.3			28	63	0	0	0	1	0	28	63				
SEMA5B	54437	broad.mit.edu	37	3	122645513	122645513	+	Missense_Mutation	SNP	C	C	T			TCGA-J9-A8CL-01A-11D-A34U-08	TCGA-J9-A8CL-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1f9f2e-7a09-4e2d-bb99-c881a34a8da2	e5a23b9d-18a0-4cb4-8743-3d53fc3c45b4	g.chr3:122645513C>T	ENST00000357599.3	-	9	1248	c.862G>A	c.(862-864)Gtg>Atg	p.V288M	AC078794.1_ENST00000408284.1_RNA|SEMA5B_ENST00000451055.2_Missense_Mutation_p.V342M|SEMA5B_ENST00000195173.4_Missense_Mutation_p.V288M	NM_001031702.3|NM_001256348.1	NP_001026872.2|NP_001243277.1	Q9P283	SEM5B_HUMAN	sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5B	288	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				cell differentiation (GO:0030154)|nervous system development (GO:0007399)	integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(13)|lung(26)|ovary(2)|pancreas(3)|skin(2)|upper_aerodigestive_tract(3)	55				GBM - Glioblastoma multiforme(114;0.0367)		TAGGCTGCCACGAAGTTTGGC	0.592																																						ENST00000195173.4																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(13)|lung(26)|ovary(2)|pancreas(3)|skin(2)|upper_aerodigestive_tract(3)	55						c.(862-864)Gtg>Atg		sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5B							48.0	41.0	44.0					3																	122645513		2203	4300	6503	SO:0001583	missense	54437				cell differentiation|nervous system development	integral to membrane	receptor activity	g.chr3:122645513C>T	AB040878	CCDS35491.1, CCDS58848.1, CCDS74995.1	3q21.1	2008-07-18			ENSG00000082684	ENSG00000082684		"""Semaphorins"""	10737	protein-coding gene	gene with protein product		609298		SEMAG		8817451	Standard	NM_001256346		Approved	SemG, KIAA1445, FLJ10372	uc031sbm.1	Q9P283	OTTHUMG00000140392	ENST00000357599.3:c.862G>A	3.37:g.122645513C>T	ENSP00000350215:p.Val288Met					SEMA5B_ENST00000451055.2_Missense_Mutation_p.V342M|SEMA5B_ENST00000357599.3_Missense_Mutation_p.V288M	p.V288M			Q9P283	SEM5B_HUMAN		GBM - Glioblastoma multiforme(114;0.0367)	9	1165	-			288			Sema.		A8K5U2|B7Z393|F8W9U8|Q6DD89|Q6UY12|Q9NW17	Missense_Mutation	SNP	ENST00000357599.3	37	c.862G>A	CCDS35491.1	.	.	.	.	.	.	.	.	.	.	C	18.35	3.605712	0.66445	.	.	ENSG00000082684	ENST00000357599;ENST00000195173;ENST00000418793;ENST00000451055;ENST00000393583	T;T;T;T	0.14893	2.47;2.47;2.47;2.47	4.69	4.69	0.59074	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.157567	0.44688	D	0.000427	T	0.29256	0.0728	M	0.77313	2.365	0.42493	D	0.992903	D;D;D	0.59767	0.982;0.986;0.986	P;P;P	0.49953	0.493;0.627;0.627	T	0.07829	-1.0752	10	0.72032	D	0.01	.	10.1574	0.42831	0.0:0.8995:0.0:0.1005	.	230;288;288	D3YTI7;B5ME80;Q9P283	.;.;SEM5B_HUMAN	M	288;288;230;342;288	ENSP00000350215:V288M;ENSP00000195173:V288M;ENSP00000389588:V342M;ENSP00000377208:V288M	ENSP00000195173:V288M	V	-	1	0	SEMA5B	124128203	0.992000	0.36948	0.997000	0.53966	0.985000	0.73830	2.531000	0.45650	2.433000	0.82419	0.650000	0.86243	GTG		0.592	SEMA5B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000277165.1	NM_001031702		6	35	0	0	0	1	0	6	35				
ZNF148	7707	broad.mit.edu	37	3	124951540	124951540	+	Missense_Mutation	SNP	C	C	A			TCGA-J9-A8CL-01A-11D-A34U-08	TCGA-J9-A8CL-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1f9f2e-7a09-4e2d-bb99-c881a34a8da2	e5a23b9d-18a0-4cb4-8743-3d53fc3c45b4	g.chr3:124951540C>A	ENST00000360647.4	-	9	2515	c.2030G>T	c.(2029-2031)gGa>gTa	p.G677V	ZNF148_ENST00000468369.1_Intron|ZNF148_ENST00000497929.1_5'UTR|ZNF148_ENST00000485866.1_Missense_Mutation_p.G677V|ZNF148_ENST00000544464.1_Intron|ZNF148_ENST00000484491.1_Missense_Mutation_p.G677V|ZNF148_ENST00000492394.1_Missense_Mutation_p.G677V|SLC12A8_ENST00000423114.2_Intron	NM_021964.2	NP_068799.2	Q9UQR1	ZN148_HUMAN	zinc finger protein 148	677					cellular defense response (GO:0006968)|gamete generation (GO:0007276)|negative regulation of gene expression (GO:0010629)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein complex assembly (GO:0006461)|substantia nigra development (GO:0021762)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			breast(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(3)|liver(1)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(3)	28						AACTATTAGTCCAAAGTGGGA	0.438																																						ENST00000360647.4																			0				breast(3)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(3)|liver(1)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(3)	28						c.(2029-2031)gGa>gTa		zinc finger protein 148							184.0	168.0	173.0					3																	124951540		2203	4300	6503	SO:0001583	missense	7707				cellular defense response|negative regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	Golgi apparatus|nucleus	protein binding|sequence-specific DNA binding|zinc ion binding	g.chr3:124951540C>A	U09851	CCDS3031.1	3q21.2	2013-01-08	2006-06-13		ENSG00000163848	ENSG00000163848		"""Zinc fingers, C2H2-type"""	12933	protein-coding gene	gene with protein product		601897	"""zinc finger protein 148 (pHZ-52)"""			7557990, 9925940	Standard	NM_021964		Approved	BERF-1, ZBP-89, BFCOL1, HT-BETA, ZFP148, pHZ-52	uc003ehx.4	Q9UQR1	OTTHUMG00000159448	ENST00000360647.4:c.2030G>T	3.37:g.124951540C>A	ENSP00000353863:p.Gly677Val					ZNF148_ENST00000485866.1_Missense_Mutation_p.G677V|SLC12A8_ENST00000423114.2_Intron|ZNF148_ENST00000492394.1_Missense_Mutation_p.G677V|ZNF148_ENST00000544464.1_Intron|ZNF148_ENST00000497929.1_5'UTR|ZNF148_ENST00000468369.1_Intron|ZNF148_ENST00000484491.1_Missense_Mutation_p.G677V	p.G677V	NM_021964.2	NP_068799.2	Q9UQR1	ZN148_HUMAN			9	2515	-			677					D3DN27|O00389|O43591|Q58EY5|Q6PJ98	Missense_Mutation	SNP	ENST00000360647.4	37	c.2030G>T	CCDS3031.1	.	.	.	.	.	.	.	.	.	.	C	13.93	2.383327	0.42207	.	.	ENSG00000163848	ENST00000360647;ENST00000484491;ENST00000492394;ENST00000485866	T;T;T;T	0.48522	0.81;0.81;0.81;0.81	5.14	4.25	0.50352	.	0.108808	0.64402	D	0.000007	T	0.43787	0.1263	L	0.45137	1.4	0.80722	D	1	P	0.48694	0.914	B	0.43575	0.424	T	0.50608	-0.8808	10	0.87932	D	0	-13.3138	14.2147	0.65786	0.0:0.9264:0.0:0.0736	.	677	Q9UQR1	ZN148_HUMAN	V	677	ENSP00000353863:G677V;ENSP00000420335:G677V;ENSP00000419322:G677V;ENSP00000420448:G677V	ENSP00000353863:G677V	G	-	2	0	ZNF148	126434230	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	3.619000	0.54196	2.673000	0.90976	0.591000	0.81541	GGA		0.438	ZNF148-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355452.4	NM_021964		52	87	1	0	1.0331e-37	1	1.23971e-37	52	87				
NETO1	81832	broad.mit.edu	37	18	70526274	70526274	+	Nonsense_Mutation	SNP	C	C	A			TCGA-J9-A8CL-01A-11D-A34U-08	TCGA-J9-A8CL-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1f9f2e-7a09-4e2d-bb99-c881a34a8da2	e5a23b9d-18a0-4cb4-8743-3d53fc3c45b4	g.chr18:70526274C>A	ENST00000327305.6	-	4	913	c.256G>T	c.(256-258)Gaa>Taa	p.E86*	NETO1_ENST00000580049.1_5'UTR|NETO1_ENST00000299430.2_Nonsense_Mutation_p.E85*|NETO1_ENST00000397929.1_Nonsense_Mutation_p.E85*|NETO1_ENST00000583169.1_Nonsense_Mutation_p.E86*	NM_138966.3	NP_620416	Q8TDF5	NETO1_HUMAN	neuropilin (NRP) and tolloid (TLL)-like 1	86	CUB 1. {ECO:0000255|PROSITE- ProRule:PRU00059}.				memory (GO:0007613)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|receptor localization to synapse (GO:0097120)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|visual learning (GO:0008542)	cell junction (GO:0030054)|excitatory synapse (GO:0060076)|extracellular region (GO:0005576)|kainate selective glutamate receptor complex (GO:0032983)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)				NS(3)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(36)|ovary(2)|prostate(3)|skin(3)|stomach(1)	63		Esophageal squamous(42;0.129)		READ - Rectum adenocarcinoma(1;0.0487)		GAGTACTTTTCATCAAAGTAA	0.388																																						ENST00000327305.6																			0				NS(3)|breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(36)|ovary(2)|prostate(3)|skin(3)|stomach(1)	63						c.(256-258)Gaa>Taa		neuropilin (NRP) and tolloid (TLL)-like 1							68.0	66.0	67.0					18																	70526274		2203	4300	6503	SO:0001587	stop_gained	81832				memory|regulation of long-term neuronal synaptic plasticity|visual learning	cell junction|excitatory synapse|extracellular region|integral to membrane|postsynaptic density|postsynaptic membrane	receptor activity	g.chr18:70526274C>A	AF448838	CCDS12000.1, CCDS42444.1	18q22.2	2008-08-01			ENSG00000166342	ENSG00000166342			13823	protein-coding gene	gene with protein product		607973				11943477, 12810072	Standard	NM_138999		Approved	BTCL1, BCTL1	uc002lkw.3	Q8TDF5	OTTHUMG00000132834	ENST00000327305.6:c.256G>T	18.37:g.70526274C>A	ENSP00000313088:p.Glu86*					NETO1_ENST00000580049.1_5'UTR|NETO1_ENST00000397929.1_Nonsense_Mutation_p.E85*|NETO1_ENST00000299430.2_Nonsense_Mutation_p.E85*|NETO1_ENST00000583169.1_Nonsense_Mutation_p.E86*	p.E86*	NM_138966.3	NP_620416.1	Q8TDF5	NETO1_HUMAN		READ - Rectum adenocarcinoma(1;0.0487)	4	913	-		Esophageal squamous(42;0.129)	86			CUB 1.		Q86W85|Q8ND78|Q8TDF4	Nonsense_Mutation	SNP	ENST00000327305.6	37	c.256G>T	CCDS12000.1	.	.	.	.	.	.	.	.	.	.	C	42	9.398735	0.99159	.	.	ENSG00000166342	ENST00000327305;ENST00000299430;ENST00000397929	.	.	.	5.35	5.35	0.76521	.	0.000000	0.64402	D	0.000008	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.48119	T	0.1	-0.1438	19.438	0.94806	0.0:1.0:0.0:0.0	.	.	.	.	X	86;85;85	.	ENSP00000299430:E85X	E	-	1	0	NETO1	68677254	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.861000	0.69553	2.672000	0.90937	0.655000	0.94253	GAA		0.388	NETO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256301.2	NM_138999		30	47	1	0	1.39806e-14	1	1.63409e-14	30	47				
XIRP2	129446	broad.mit.edu	37	2	168115485	168115485	+	Missense_Mutation	SNP	G	G	T			TCGA-J9-A8CL-01A-11D-A34U-08	TCGA-J9-A8CL-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1f9f2e-7a09-4e2d-bb99-c881a34a8da2	e5a23b9d-18a0-4cb4-8743-3d53fc3c45b4	g.chr2:168115485G>T	ENST00000409728.1	+	11	2617	c.2528G>T	c.(2527-2529)gGa>gTa	p.G843V	XIRP2_ENST00000295237.9_3'UTR|XIRP2_ENST00000409756.2_Missense_Mutation_p.G810V|XIRP2_ENST00000409605.1_Missense_Mutation_p.G588V|XIRP2_ENST00000420519.1_Missense_Mutation_p.G843V|XIRP2_ENST00000409273.1_3'UTR|XIRP2_ENST00000409043.1_Missense_Mutation_p.G810V|XIRP2_ENST00000409195.1_3'UTR	NM_001199143.1	NP_001186072.1	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	0					actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281)	cell junction (GO:0030054)|Z disc (GO:0030018)				NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						GTAAAGGGGGGAAGTTCAATC	0.438																																						ENST00000409728.1																			0				NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						c.(2527-2529)gGa>gTa		xin actin-binding repeat containing 2							29.0	28.0	29.0					2																	168115485		1842	4099	5941	SO:0001583	missense	129446				actin cytoskeleton organization	cell junction	actin binding	g.chr2:168115485G>T	AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"""myomaxin"""	609778	"""cardiomyopathy associated 3"""	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409728.1:c.2528G>T	2.37:g.168115485G>T	ENSP00000386619:p.Gly843Val					XIRP2_ENST00000409605.1_Missense_Mutation_p.G588V|XIRP2_ENST00000409195.1_3'UTR|XIRP2_ENST00000409273.1_3'UTR|XIRP2_ENST00000409043.1_Missense_Mutation_p.G810V|XIRP2_ENST00000409756.2_Missense_Mutation_p.G810V|XIRP2_ENST00000295237.9_3'UTR|XIRP2_ENST00000420519.1_Missense_Mutation_p.G843V	p.G843V	NM_001199143.1	NP_001186072.1	A4UGR9	XIRP2_HUMAN			11	2617	+			0					A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Missense_Mutation	SNP	ENST00000409728.1	37	c.2528G>T	CCDS56143.1	.	.	.	.	.	.	.	.	.	.	G	1.010	-0.688117	0.03328	.	.	ENSG00000163092	ENST00000409043;ENST00000409728;ENST00000409756;ENST00000420519;ENST00000409605	T;T;T;T;T	0.76709	-1.03;-1.04;-1.03;-1.04;-1.03	5.45	-0.0528	0.13820	.	.	.	.	.	T	0.60753	0.2293	.	.	.	0.09310	N	1	B;B	0.20988	0.05;0.05	B;B	0.21917	0.037;0.037	T	0.48293	-0.9048	8	0.39692	T	0.17	.	2.1802	0.03872	0.3128:0.397:0.1775:0.1127	.	810;843	A4UGR9-4;A4UGR9-6	.;.	V	810;843;810;843;588	ENSP00000386454:G810V;ENSP00000386619:G843V;ENSP00000386724:G810V;ENSP00000415541:G843V;ENSP00000386981:G588V	ENSP00000386454:G810V	G	+	2	0	XIRP2	167823731	0.001000	0.12720	0.002000	0.10522	0.014000	0.08584	0.334000	0.19787	0.045000	0.15804	-1.567000	0.00876	GGA		0.438	XIRP2-006	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333552.1	NM_152381		3	21	1	0	0.115264	1	0.119239	3	21				
ACSS1	84532	broad.mit.edu	37	20	24993264	24993264	+	Missense_Mutation	SNP	C	C	T			TCGA-J9-A8CL-01A-11D-A34U-08	TCGA-J9-A8CL-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1f9f2e-7a09-4e2d-bb99-c881a34a8da2	e5a23b9d-18a0-4cb4-8743-3d53fc3c45b4	g.chr20:24993264C>T	ENST00000323482.4	-	12	1823	c.1744G>A	c.(1744-1746)Ggc>Agc	p.G582S	ACSS1_ENST00000542618.1_Missense_Mutation_p.G461S|ACSS1_ENST00000484396.1_5'Flank|ACSS1_ENST00000432802.2_Intron|ACSS1_ENST00000537502.1_Missense_Mutation_p.G499S	NM_001252675.1|NM_032501.3	NP_001239604.1|NP_115890.2	Q9NUB1	ACS2L_HUMAN	acyl-CoA synthetase short-chain family member 1	582					acetate biosynthetic process (GO:0019413)|acetyl-CoA biosynthetic process (GO:0006085)|acetyl-CoA biosynthetic process from acetate (GO:0019427)|ethanol oxidation (GO:0006069)|propionate biosynthetic process (GO:0019542)|small molecule metabolic process (GO:0044281)|xenobiotic metabolic process (GO:0006805)	mitochondrial matrix (GO:0005759)	acetate-CoA ligase activity (GO:0003987)|AMP binding (GO:0016208)|ATP binding (GO:0005524)			NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	26					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	TGGGGGTAGCCAATGACAGCA	0.567																																						ENST00000537502.1																			0				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	26						c.(1495-1497)Ggc>Agc		acyl-CoA synthetase short-chain family member 1	Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)						162.0	162.0	162.0					20																	24993264		2203	4300	6503	SO:0001583	missense	84532				acetyl-CoA biosynthetic process|ethanol oxidation|xenobiotic metabolic process	mitochondrial matrix	acetate-CoA ligase activity|AMP binding|ATP binding|protein binding	g.chr20:24993264C>T		CCDS13167.1, CCDS58764.1, CCDS58765.1	20p11.23-p11.21	2012-07-13	2005-09-08	2005-09-08	ENSG00000154930	ENSG00000154930	6.2.1.1	"""Acyl-CoA synthetase family"""	16091	protein-coding gene	gene with protein product		614355	"""acetyl-Coenzyme A synthetase 2 (AMP forming)-like"""	ACAS2L			Standard	NM_032501		Approved	dJ568C11.3, AceCS2L, MGC33843	uc002wub.3	Q9NUB1	OTTHUMG00000032112	ENST00000323482.4:c.1744G>A	20.37:g.24993264C>T	ENSP00000316924:p.Gly582Ser					ACSS1_ENST00000432802.2_Intron|ACSS1_ENST00000542618.1_Missense_Mutation_p.G461S|ACSS1_ENST00000323482.4_Missense_Mutation_p.G582S	p.G499S			Q9NUB1	ACS2L_HUMAN			10	3026	-			582					B3KXL2|B4DJZ3|D3DW48|F5H6F4|F8W7Y1|Q5TF42|Q8IV99|Q8N234|Q96JI1|Q96JX6|Q9NU28	Missense_Mutation	SNP	ENST00000323482.4	37	c.1495G>A	CCDS13167.1	.	.	.	.	.	.	.	.	.	.	C	27.7	4.850944	0.91277	.	.	ENSG00000154930	ENST00000323482;ENST00000376727;ENST00000537502;ENST00000542618	T;T;T	0.65178	-0.14;-0.14;-0.14	4.99	4.04	0.47022	.	0.049102	0.85682	N	0.000000	T	0.75810	0.3900	M	0.88842	2.985	0.80722	D	1	P;P;P;P	0.52692	0.896;0.911;0.855;0.955	B;P;P;P	0.53313	0.362;0.723;0.533;0.66	T	0.80964	-0.1147	10	0.87932	D	0	-19.1382	12.3482	0.55132	0.0:0.9168:0.0:0.0832	.	377;580;582;499	E9PC79;Q9NUB1-2;Q9NUB1;Q6ZV30	.;.;ACS2L_HUMAN;.	S	582;377;499;461	ENSP00000316924:G582S;ENSP00000439304:G499S;ENSP00000437657:G461S	ENSP00000316924:G582S	G	-	1	0	ACSS1	24941264	1.000000	0.71417	0.998000	0.56505	0.930000	0.56654	4.505000	0.60421	1.228000	0.43614	0.561000	0.74099	GGC		0.567	ACSS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078386.2	NM_032501		29	61	0	0	0	1	0	29	61				
DIAPH1	1729	broad.mit.edu	37	5	140907265	140907265	+	Splice_Site	SNP	C	C	A	rs80342520		TCGA-J9-A8CL-01A-11D-A34U-08	TCGA-J9-A8CL-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1f9f2e-7a09-4e2d-bb99-c881a34a8da2	e5a23b9d-18a0-4cb4-8743-3d53fc3c45b4	g.chr5:140907265C>A	ENST00000398557.4	-	24	3289		c.e24-1		DIAPH1_ENST00000389057.5_Splice_Site|DIAPH1_ENST00000520569.1_Splice_Site|DIAPH1_ENST00000389054.3_Splice_Site|DIAPH1_ENST00000398562.2_Splice_Site|DIAPH1_ENST00000518047.1_Splice_Site|DIAPH1_ENST00000253811.6_Splice_Site|DIAPH1_ENST00000398566.3_Splice_Site|DIAPH1_ENST00000494967.1_5'Flank	NM_005219.4	NP_005210.3	O60610	DIAP1_HUMAN	diaphanous-related formin 1						actin filament polymerization (GO:0030041)|cellular response to histamine (GO:0071420)|cytoskeleton organization (GO:0007010)|positive regulation of cell migration (GO:0030335)|protein localization to microtubule (GO:0035372)|regulation of cell shape (GO:0008360)|regulation of microtubule-based process (GO:0032886)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|mitotic spindle (GO:0072686)|ruffle membrane (GO:0032587)	ion channel binding (GO:0044325)|poly(A) RNA binding (GO:0044822)|receptor binding (GO:0005102)			breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(12)|pancreas(1)|skin(2)|stomach(2)	23			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TCAGCAGAAACTaaaaaaaaa	0.358																																						ENST00000253811.6																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(12)|pancreas(1)|skin(2)|stomach(2)	23						c.e24-1		diaphanous-related formin 1							36.0	32.0	33.0					5																	140907265		1795	4059	5854	SO:0001630	splice_region_variant	1729				regulation of microtubule-based process|sensory perception of sound	cytoplasm|cytoskeleton|ruffle membrane	actin binding|receptor binding|Rho GTPase binding	g.chr5:140907265C>A	BC007411		5q31	2013-05-24	2013-05-24		ENSG00000131504	ENSG00000131504			2876	protein-coding gene	gene with protein product		602121	"""diaphanous (Drosophila, homolog) 1"", ""diaphanous homolog 1 (Drosophila)"""	DFNA1		9360932, 1350680	Standard	NM_005219		Approved	hDIA1, LFHL1	uc003llb.4	O60610	OTTHUMG00000149893	ENST00000398557.4:c.3149-1G>T	5.37:g.140907265C>A						DIAPH1_ENST00000389057.5_Splice_Site|DIAPH1_ENST00000389054.3_Splice_Site|DIAPH1_ENST00000518047.1_Splice_Site|DIAPH1_ENST00000398557.4_Splice_Site|DIAPH1_ENST00000520569.1_Splice_Site|DIAPH1_ENST00000398562.2_Splice_Site|DIAPH1_ENST00000398566.3_Splice_Site				O60610	DIAP1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		24	3292	-								A6NF18|B7ZKW2|E9PEZ2|Q17RN4|Q59FH8|Q9UC76	Splice_Site	SNP	ENST00000398557.4	37		CCDS43374.1	.	.	.	.	.	.	.	.	.	.	C	16.38	3.107266	0.56291	.	.	ENSG00000131504	ENST00000389054;ENST00000520569;ENST00000398562;ENST00000389057;ENST00000398566;ENST00000398557;ENST00000253811;ENST00000518047	.	.	.	5.64	5.64	0.86602	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.4696	0.90767	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	DIAPH1	140887449	1.000000	0.71417	0.998000	0.56505	0.414000	0.31173	7.385000	0.79763	2.659000	0.90383	0.563000	0.77884	.		0.358	DIAPH1-203	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		NM_005219	Intron	4	21	1	0	0.000274275	1	0.000297407	4	21				
NDUFS2	4720	broad.mit.edu	37	1	161179951	161179951	+	Missense_Mutation	SNP	C	C	G			TCGA-J9-A8CL-01A-11D-A34U-08	TCGA-J9-A8CL-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1f9f2e-7a09-4e2d-bb99-c881a34a8da2	e5a23b9d-18a0-4cb4-8743-3d53fc3c45b4	g.chr1:161179951C>G	ENST00000367993.3	+	8	1201	c.753C>G	c.(751-753)ttC>ttG	p.F251L	NDUFS2_ENST00000465923.1_3'UTR|NDUFS2_ENST00000476409.2_Missense_Mutation_p.F153L|NDUFS2_ENST00000392179.4_Missense_Mutation_p.F251L	NM_004550.4	NP_004541.1	O75306	NDUS2_HUMAN	NADH dehydrogenase (ubiquinone) Fe-S protein 2, 49kDa (NADH-coenzyme Q reductase)	251					cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	4 iron, 4 sulfur cluster binding (GO:0051539)|electron carrier activity (GO:0009055)|metal ion binding (GO:0046872)|NAD binding (GO:0051287)|NADH dehydrogenase (ubiquinone) activity (GO:0008137)|quinone binding (GO:0048038)			breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(8)|prostate(1)|skin(1)	18	all_cancers(52;1.16e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		Doxorubicin(DB00997)	CTAAGAACTTCTCTCTTCGGC	0.448											OREG0013941	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000392179.4																			0				breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(8)|prostate(1)|skin(1)	18						c.(751-753)ttC>ttG		NADH dehydrogenase (ubiquinone) Fe-S protein 2, 49kDa (NADH-coenzyme Q reductase)	NADH(DB00157)						108.0	102.0	104.0					1																	161179951		2203	4300	6503	SO:0001583	missense	4720				mitochondrial electron transport, NADH to ubiquinone|response to oxidative stress|transport	mitochondrial respiratory chain complex I	4 iron, 4 sulfur cluster binding|electron carrier activity|metal ion binding|NAD binding|NADH dehydrogenase (ubiquinone) activity|protein binding|quinone binding	g.chr1:161179951C>G	BC008868	CCDS1224.1, CCDS53404.1	1q23.3	2011-07-04	2002-08-29		ENSG00000158864	ENSG00000158864	1.6.5.3	"""Mitochondrial respiratory chain complex / Complex I"""	7708	protein-coding gene	gene with protein product	"""complex I 49kDa subunit"", ""NADH dehydrogenase [ubiquinone] iron-sulfur protein 2, mitochondrial"""	602985	"""NADH dehydrogenase (ubiquinone) Fe-S protein 2 (49kD) (NADH-coenzyme Q reductase)"""			1832859, 9585441	Standard	NM_004550		Approved	CI-49	uc001fyw.3	O75306	OTTHUMG00000034344	ENST00000367993.3:c.753C>G	1.37:g.161179951C>G	ENSP00000356972:p.Phe251Leu		OREG0013941	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1814	NDUFS2_ENST00000465923.1_3'UTR|NDUFS2_ENST00000367993.3_Missense_Mutation_p.F251L|NDUFS2_ENST00000476409.2_Missense_Mutation_p.F153L	p.F251L	NM_001166159.1	NP_001159631.1	O75306	NDUS2_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00376)		7	992	+	all_cancers(52;1.16e-17)|all_hematologic(112;0.093)		251					D3DVG7|J3KPM7|Q5VTW0|Q969P3|Q9UEV3	Missense_Mutation	SNP	ENST00000367993.3	37	c.753C>G	CCDS1224.1	.	.	.	.	.	.	.	.	.	.	C	29.4	5.003807	0.93287	.	.	ENSG00000158864	ENST00000367993;ENST00000392179;ENST00000476409;ENST00000546154	D;D;D	0.85088	-1.94;-1.94;-1.94	5.29	3.44	0.39384	NADH-quinone oxidoreductase, subunit D (1);	0.048605	0.85682	D	0.000000	T	0.82268	0.5000	L	0.52011	1.625	0.58432	D	0.999990	D;P;P	0.55385	0.971;0.525;0.525	P;B;B	0.56278	0.795;0.443;0.443	D	0.83803	0.0237	9	0.87932	D	0	.	10.839	0.46704	0.0:0.8451:0.0:0.1549	.	200;251;251	B7Z792;Q53HG2;O75306	.;.;NDUS2_HUMAN	L	251;251;153;42	ENSP00000356972:F251L;ENSP00000376018:F251L;ENSP00000446447:F153L	ENSP00000356972:F251L	F	+	3	2	NDUFS2	159446575	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	2.749000	0.47492	0.812000	0.34326	0.655000	0.94253	TTC		0.448	NDUFS2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000083015.1	NM_004550		35	23	0	0	0	1	0	35	23				
SYNE1	23345	broad.mit.edu	37	6	152576788	152576788	+	Missense_Mutation	SNP	G	G	A			TCGA-J9-A8CL-01A-11D-A34U-08	TCGA-J9-A8CL-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1f9f2e-7a09-4e2d-bb99-c881a34a8da2	e5a23b9d-18a0-4cb4-8743-3d53fc3c45b4	g.chr6:152576788G>A	ENST00000367255.5	-	103	19799	c.19198C>T	c.(19198-19200)Cgt>Tgt	p.R6400C	SYNE1_ENST00000448038.1_Missense_Mutation_p.R6329C|SYNE1_ENST00000356820.4_Missense_Mutation_p.R924C|SYNE1_ENST00000341594.5_Missense_Mutation_p.R6012C|SYNE1_ENST00000265368.4_Missense_Mutation_p.R6400C|SYNE1_ENST00000423061.1_Missense_Mutation_p.R6329C	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	6400					cell death (GO:0008219)|cytoskeletal anchoring at nuclear membrane (GO:0090286)|establishment of nucleus localization (GO:0040023)|Golgi organization (GO:0007030)|muscle cell differentiation (GO:0042692)|nuclear matrix anchoring at nuclear membrane (GO:0090292)|nucleus organization (GO:0006997)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)|sarcomere (GO:0030017)|SUN-KASH complex (GO:0034993)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|lamin binding (GO:0005521)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524		Ovarian(120;0.0955)	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)		ACAAATAAACGTTCTTCAACG	0.448										HNSCC(10;0.0054)																												ENST00000367255.5																			0				NS(3)|biliary_tract(1)|breast(17)|central_nervous_system(21)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(4)|kidney(16)|large_intestine(138)|liver(1)|lung(190)|ovary(11)|pancreas(5)|prostate(12)|skin(20)|stomach(3)|upper_aerodigestive_tract(33)|urinary_tract(19)	524						c.(19198-19200)Cgt>Tgt		spectrin repeat containing, nuclear envelope 1							164.0	138.0	147.0					6																	152576788		2203	4300	6503	SO:0001583	missense	23345				cell death|cytoskeletal anchoring at nuclear membrane|Golgi organization|muscle cell differentiation|nuclear matrix anchoring at nuclear membrane	cytoskeleton|Golgi apparatus|integral to membrane|nuclear outer membrane|postsynaptic membrane|sarcomere|SUN-KASH complex	actin binding|lamin binding	g.chr6:152576788G>A	AB018339	CCDS5235.1, CCDS5236.1, CCDS5236.2	6q24.2-q25.3	2014-09-17			ENSG00000131018	ENSG00000131018			17089	protein-coding gene	gene with protein product	"""myocyte nuclear envelope protein 1"", ""nuclear envelope spectrin repeat-1"""	608441	"""chromosome 6 open reading frame 98"""	C6orf98		9872452, 10878022	Standard	NM_182961		Approved	SYNE-1B, KIAA0796, 8B, Nesprin-1, enaptin, MYNE1, CPG2, dJ45H2.2, SCAR8, ARCA1, Nesp1	uc003qou.4	Q8NF91	OTTHUMG00000015841	ENST00000367255.5:c.19198C>T	6.37:g.152576788G>A	ENSP00000356224:p.Arg6400Cys	HNSCC(10;0.0054)				SYNE1_ENST00000423061.1_Missense_Mutation_p.R6329C|SYNE1_ENST00000356820.4_Missense_Mutation_p.R924C|SYNE1_ENST00000448038.1_Missense_Mutation_p.R6329C|SYNE1_ENST00000265368.4_Missense_Mutation_p.R6400C|SYNE1_ENST00000341594.5_Missense_Mutation_p.R6012C	p.R6400C	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	103	19799	-		Ovarian(120;0.0955)	6400					E7EQI5|O94890|Q5JV19|Q5JV22|Q8N9P7|Q8TCP1|Q8WWW6|Q8WWW7|Q8WXF6|Q96N17|Q9C0A7|Q9H525|Q9H526|Q9NS36|Q9NU50|Q9UJ06|Q9UJ07|Q9ULF8	Missense_Mutation	SNP	ENST00000367255.5	37	c.19198C>T	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	G	21.9	4.212366	0.79240	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594;ENST00000356820	T;T;T;T;T;T	0.55234	0.62;0.61;0.53;0.61;0.72;2.64	5.17	5.17	0.71159	.	0.334601	0.25555	N	0.029864	T	0.37544	0.1007	N	0.08118	0	0.39420	D	0.9669	D;D;D	0.64830	0.98;0.98;0.994	P;P;P	0.52856	0.517;0.517;0.711	T	0.51926	-0.8643	10	0.66056	D	0.02	.	19.0414	0.93000	0.0:0.0:1.0:0.0	.	6400;6400;6329	Q8NF91;E7EQI5;Q8NF91-4	SYNE1_HUMAN;.;.	C	6400;6329;6400;6329;6012;924	ENSP00000356224:R6400C;ENSP00000396024:R6329C;ENSP00000265368:R6400C;ENSP00000390975:R6329C;ENSP00000341887:R6012C;ENSP00000349276:R924C	ENSP00000265368:R6400C	R	-	1	0	SYNE1	152618481	0.924000	0.31332	0.896000	0.35187	0.993000	0.82548	4.230000	0.58632	2.579000	0.87056	0.655000	0.94253	CGT		0.448	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		9	72	0	0	0	1	0	9	72				
EDIL3	10085	broad.mit.edu	37	5	83476237	83476237	+	Missense_Mutation	SNP	C	C	A			TCGA-J9-A8CL-01A-11D-A34U-08	TCGA-J9-A8CL-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1f9f2e-7a09-4e2d-bb99-c881a34a8da2	e5a23b9d-18a0-4cb4-8743-3d53fc3c45b4	g.chr5:83476237C>A	ENST00000296591.5	-	4	747	c.329G>T	c.(328-330)gGa>gTa	p.G110V	EDIL3_ENST00000380138.3_Missense_Mutation_p.G100V	NM_005711.3	NP_005702.3	O43854	EDIL3_HUMAN	EGF-like repeats and discoidin I-like domains 3	110	EGF-like 2. {ECO:0000255|PROSITE- ProRule:PRU00076}.				cell adhesion (GO:0007155)|multicellular organismal development (GO:0007275)|positive regulation of cell-substrate adhesion (GO:0010811)	extracellular vesicular exosome (GO:0070062)|vesicle (GO:0031982)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)			cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(5)|skin(3)	31		Lung NSC(167;0.000121)|all_lung(232;0.000154)|Ovarian(174;0.0425)		OV - Ovarian serous cystadenocarcinoma(54;4.3e-40)|Epithelial(54;4.79e-32)|all cancers(79;1.54e-26)		CCCATTAAATCCTCGGGGACA	0.378																																						ENST00000296591.5																			0				cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(1)|prostate(5)|skin(3)	31						c.(328-330)gGa>gTa		EGF-like repeats and discoidin I-like domains 3							102.0	94.0	97.0					5																	83476237		2203	4300	6503	SO:0001583	missense	10085				cell adhesion|multicellular organismal development	extracellular region	calcium ion binding|integrin binding	g.chr5:83476237C>A	U70312	CCDS4062.1, CCDS64195.1	5q14	2008-02-05			ENSG00000164176	ENSG00000164176			3173	protein-coding gene	gene with protein product		606018				9420328	Standard	NM_005711		Approved	DEL1	uc003kio.1	O43854	OTTHUMG00000119047	ENST00000296591.5:c.329G>T	5.37:g.83476237C>A	ENSP00000296591:p.Gly110Val					EDIL3_ENST00000380138.3_Missense_Mutation_p.G100V	p.G110V	NM_005711.3	NP_005702.3	O43854	EDIL3_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;4.3e-40)|Epithelial(54;4.79e-32)|all cancers(79;1.54e-26)	4	747	-		Lung NSC(167;0.000121)|all_lung(232;0.000154)|Ovarian(174;0.0425)	110			EGF-like 2.		B2R763|O43855|Q5D094|Q8N610	Missense_Mutation	SNP	ENST00000296591.5	37	c.329G>T	CCDS4062.1	.	.	.	.	.	.	.	.	.	.	C	18.47	3.631036	0.67015	.	.	ENSG00000164176	ENST00000296591;ENST00000380138	D;D	0.98221	-4.8;-4.8	5.35	5.35	0.76521	EGF (1);Epidermal growth factor-like (1);EGF-like region, conserved site (2);Epidermal growth factor-like, type 3 (1);	0.169599	0.52532	D	0.000080	D	0.99333	0.9766	H	0.95645	3.7	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.998;1.0	D	0.98784	1.0733	10	0.87932	D	0	-18.0638	19.4168	0.94704	0.0:1.0:0.0:0.0	.	100;110	O43854-2;O43854	.;EDIL3_HUMAN	V	110;100	ENSP00000296591:G110V;ENSP00000369483:G100V	ENSP00000296591:G110V	G	-	2	0	EDIL3	83511993	1.000000	0.71417	0.992000	0.48379	0.365000	0.29674	7.421000	0.80204	2.660000	0.90430	0.563000	0.77884	GGA		0.378	EDIL3-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239258.1	NM_005711		7	51	1	0	0.00448238	1	0.00474605	7	51				
TRIM60	166655	broad.mit.edu	37	4	165962535	165962535	+	Silent	SNP	C	C	G			TCGA-J9-A8CL-01A-11D-A34U-08	TCGA-J9-A8CL-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1f9f2e-7a09-4e2d-bb99-c881a34a8da2	e5a23b9d-18a0-4cb4-8743-3d53fc3c45b4	g.chr4:165962535C>G	ENST00000512596.1	+	3	1527	c.1311C>G	c.(1309-1311)ctC>ctG	p.L437L	TRIM60_ENST00000508504.1_Silent_p.L437L|TRIM60_ENST00000341062.5_Silent_p.L437L	NM_152620.2	NP_689833.1	Q495X7	TRI60_HUMAN	tripartite motif containing 60	437	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.					intracellular (GO:0005622)	zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(3)|large_intestine(6)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	29	all_hematologic(180;0.221)	Prostate(90;0.0959)|Melanoma(52;0.18)		GBM - Glioblastoma multiforme(119;0.0844)		GGTCTATTCTCTATACTTTTA	0.358																																						ENST00000512596.1																			0				NS(1)|breast(2)|endometrium(3)|large_intestine(6)|lung(15)|skin(1)|upper_aerodigestive_tract(1)	29						c.(1309-1311)ctC>ctG		tripartite motif containing 60							68.0	74.0	72.0					4																	165962535		2203	4300	6503	SO:0001819	synonymous_variant	166655					intracellular	zinc ion binding	g.chr4:165962535C>G	AK093201	CCDS3808.1	4q32.3	2013-01-09	2011-01-25	2004-11-17	ENSG00000176979	ENSG00000176979		"""RING-type (C3HC4) zinc fingers"", ""Tripartite motif containing / Tripartite motif containing"""	21162	protein-coding gene	gene with protein product			"""ring finger protein 129"", ""tripartite motif-containing 60"""	RNF129, RNF33			Standard	NM_152620		Approved	FLJ35882	uc003iqy.1	Q495X7	OTTHUMG00000161262	ENST00000512596.1:c.1311C>G	4.37:g.165962535C>G						TRIM60_ENST00000341062.5_Silent_p.L437L|TRIM60_ENST00000508504.1_Silent_p.L437L	p.L437L	NM_152620.2	NP_689833.1	Q495X7	TRI60_HUMAN		GBM - Glioblastoma multiforme(119;0.0844)	3	1527	+	all_hematologic(180;0.221)	Prostate(90;0.0959)|Melanoma(52;0.18)	437			B30.2/SPRY.		Q8NA35	Silent	SNP	ENST00000512596.1	37	c.1311C>G	CCDS3808.1																																																																																				0.358	TRIM60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364325.1	NM_152620		36	88	0	0	0	1	0	36	88				
NPIPB4	440345	broad.mit.edu	37	16	21854800	21854800	+	Missense_Mutation	SNP	G	G	C			TCGA-J9-A8CL-01A-11D-A34U-08	TCGA-J9-A8CL-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1f9f2e-7a09-4e2d-bb99-c881a34a8da2	e5a23b9d-18a0-4cb4-8743-3d53fc3c45b4	g.chr16:21854800G>C	ENST00000415645.2	-	4	491	c.452C>G	c.(451-453)aCa>aGa	p.T151R	NPIPB4_ENST00000539318.1_5'UTR|NPIPB4_ENST00000357370.5_Missense_Mutation_p.T151R|NPIPB4_ENST00000451409.1_5'UTR			C9JG80	NPIB4_HUMAN	nuclear pore complex interacting protein family, member B4	151						integral component of membrane (GO:0016021)											TCTAACTTTTGTTTCCACATG	0.388																																						ENST00000415645.2																			0											c.(451-453)aCa>aGa		nuclear pore complex interacting protein family, member B4																																				SO:0001583	missense	440345							g.chr16:21854800G>C			16p12.2	2013-06-11			ENSG00000185864	ENSG00000185864			41985	protein-coding gene	gene with protein product							Standard	XM_006721108		Approved			C9JG80	OTTHUMG00000163555	ENST00000415645.2:c.452C>G	16.37:g.21854800G>C	ENSP00000404439:p.Thr151Arg					NPIPB4_ENST00000357370.5_Missense_Mutation_p.T151R|NPIPB4_ENST00000451409.1_5'UTR|NPIPB4_ENST00000539318.1_5'UTR	p.T151R							4	491	-									Missense_Mutation	SNP	ENST00000415645.2	37	c.452C>G		.	.	.	.	.	.	.	.	.	.	.	10.23	1.292367	0.23564	.	.	ENSG00000185864	ENST00000415645;ENST00000357370;ENST00000341400	T;T;T	0.52754	0.65;0.65;0.65	0.589	0.589	0.17452	.	.	.	.	.	T	0.38321	0.1036	.	.	.	.	.	.	B;B	0.32968	0.276;0.392	B;B	0.36989	0.219;0.238	T	0.49093	-0.8975	6	0.41790	T	0.15	.	.	.	.	.	151;151	C9JG80;Q92617	.;NPPL3_HUMAN	R	151	ENSP00000404439:T151R;ENSP00000349936:T151R;ENSP00000339196:T151R	ENSP00000339196:T151R	T	-	2	0	RP11-645C24.1	21762301	0.001000	0.12720	0.001000	0.08648	0.004000	0.04260	-0.511000	0.06321	0.604000	0.29930	0.175000	0.17021	ACA		0.388	NPIPB4-202	KNOWN	basic|appris_principal	protein_coding	protein_coding				47	202	0	0	0	1	0	47	202				
FAM134A	79137	broad.mit.edu	37	2	220046151	220046151	+	Missense_Mutation	SNP	A	A	T			TCGA-J9-A8CL-01A-11D-A34U-08	TCGA-J9-A8CL-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1f9f2e-7a09-4e2d-bb99-c881a34a8da2	e5a23b9d-18a0-4cb4-8743-3d53fc3c45b4	g.chr2:220046151A>T	ENST00000430297.2	+	7	981	c.845A>T	c.(844-846)gAa>gTa	p.E282V		NM_024293.4	NP_077269.3	Q8NC44	F134A_HUMAN	family with sequence similarity 134, member A	282						integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)	19		Renal(207;0.0915)		Epithelial(149;8.92e-07)|all cancers(144;0.000151)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		ACAGAGAGTGAAAGCGAGGCA	0.532																																						ENST00000430297.2																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|prostate(2)	19						c.(844-846)gAa>gTa		family with sequence similarity 134, member A							57.0	59.0	58.0					2																	220046151		2203	4300	6503	SO:0001583	missense	79137					endoplasmic reticulum|integral to membrane		g.chr2:220046151A>T	AK074983	CCDS2434.1	2q36.1	2008-02-05	2007-05-01	2007-05-01	ENSG00000144567	ENSG00000144567			28450	protein-coding gene	gene with protein product			"""chromosome 2 open reading frame 17"""	C2orf17			Standard	NM_024293		Approved	MGC3035	uc002vjw.4	Q8NC44	OTTHUMG00000154577	ENST00000430297.2:c.845A>T	2.37:g.220046151A>T	ENSP00000395249:p.Glu282Val						p.E282V	NM_024293.4	NP_077269.3	Q8NC44	F134A_HUMAN		Epithelial(149;8.92e-07)|all cancers(144;0.000151)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	7	981	+		Renal(207;0.0915)	282					Q6P1P5|Q9H0K7	Missense_Mutation	SNP	ENST00000430297.2	37	c.845A>T	CCDS2434.1	.	.	.	.	.	.	.	.	.	.	A	26.5	4.744511	0.89663	.	.	ENSG00000144567	ENST00000458520;ENST00000430297;ENST00000452022;ENST00000443518	T;T	0.53423	0.62;0.99	4.85	4.85	0.62838	.	0.047913	0.85682	D	0.000000	T	0.67249	0.2873	M	0.71581	2.175	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.963	T	0.70978	-0.4725	10	0.62326	D	0.03	-8.5674	14.6022	0.68447	1.0:0.0:0.0:0.0	.	75;282	E7EUL4;Q8NC44	.;F134A_HUMAN	V	75;282;75;75	ENSP00000403898:E75V;ENSP00000395249:E282V	ENSP00000395249:E282V	E	+	2	0	FAM134A	219754395	1.000000	0.71417	1.000000	0.80357	0.901000	0.52897	6.439000	0.73430	2.028000	0.59812	0.533000	0.62120	GAA		0.532	FAM134A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336147.2	NM_024293		14	45	0	0	0	1	0	14	45				
METTL13	51603	broad.mit.edu	37	1	171753168	171753168	+	Missense_Mutation	SNP	C	C	T	rs530716487		TCGA-J9-A8CL-01A-11D-A34U-08	TCGA-J9-A8CL-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1f9f2e-7a09-4e2d-bb99-c881a34a8da2	e5a23b9d-18a0-4cb4-8743-3d53fc3c45b4	g.chr1:171753168C>T	ENST00000361735.3	+	2	708	c.442C>T	c.(442-444)Cgt>Tgt	p.R148C	METTL13_ENST00000362019.3_Missense_Mutation_p.R62C|METTL13_ENST00000367737.5_Missense_Mutation_p.R148C|METTL13_ENST00000458517.1_Missense_Mutation_p.R147C	NM_015935.4	NP_057019.3	Q8N6R0	MET13_HUMAN	methyltransferase like 13	148							methyltransferase activity (GO:0008168)			breast(3)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(8)|lung(17)|stomach(3)	41						TGAGGTTGGCCGTGTCCTGCA	0.592																																						ENST00000361735.3																			0				breast(3)|cervix(1)|endometrium(4)|kidney(5)|large_intestine(8)|lung(17)|stomach(3)	41						c.(442-444)Cgt>Tgt		methyltransferase like 13							113.0	90.0	98.0					1																	171753168		2203	4300	6503	SO:0001583	missense	51603						methyltransferase activity|protein binding	g.chr1:171753168C>T	AF132936	CCDS1299.1, CCDS1300.1, CCDS30936.1	1q24-q25.3	2009-02-23	2009-02-23	2009-02-23	ENSG00000010165	ENSG00000010165			24248	protein-coding gene	gene with protein product			"""KIAA0859"""	KIAA0859		10810093, 10048485	Standard	NM_001007239		Approved	CGI-01	uc001ghz.3	Q8N6R0	OTTHUMG00000034912	ENST00000361735.3:c.442C>T	1.37:g.171753168C>T	ENSP00000354920:p.Arg148Cys					METTL13_ENST00000367737.5_Missense_Mutation_p.R148C|METTL13_ENST00000458517.1_Missense_Mutation_p.R147C|METTL13_ENST00000362019.3_Missense_Mutation_p.R62C	p.R148C	NM_015935.4	NP_057019.3	Q8N6R0	MTL13_HUMAN			2	708	+			148					A6NFK0|A8K6S5|O94940|Q53EZ6|Q5TGP9|Q5TGQ0|Q8N2P8|Q96J11|Q96SQ0|Q9Y2Z1|Q9Y3M6	Missense_Mutation	SNP	ENST00000361735.3	37	c.442C>T	CCDS1299.1	.	.	.	.	.	.	.	.	.	.	C	20.1	3.931893	0.73442	.	.	ENSG00000010165	ENST00000458517;ENST00000362019;ENST00000367737;ENST00000361735;ENST00000367736;ENST00000341850	T;T;T;T;T	0.73897	-0.79;-0.79;0.94;-0.79;-0.79	5.23	5.23	0.72850	Methyltransferase type 11 (1);	0.000000	0.85682	D	0.000000	D	0.90034	0.6888	H	0.96239	3.79	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.952;1.0	D	0.93127	0.6530	10	0.87932	D	0	-11.1606	18.4043	0.90528	0.0:1.0:0.0:0.0	.	147;148;148	B4E2X3;Q8N6R0-1;Q8N6R0	.;.;MTL13_HUMAN	C	147;62;148;148;65;62	ENSP00000401955:R147C;ENSP00000355393:R62C;ENSP00000356711:R148C;ENSP00000354920:R148C;ENSP00000356710:R65C	ENSP00000341732:R62C	R	+	1	0	METTL13	170019791	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.297000	0.59061	2.397000	0.81536	0.655000	0.94253	CGT		0.592	METTL13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084528.5	NM_014955		28	11	0	0	0	1	0	28	11				
DOCK10	55619	broad.mit.edu	37	2	225662683	225662683	+	Nonsense_Mutation	SNP	G	G	A			TCGA-J9-A8CL-01A-11D-A34U-08	TCGA-J9-A8CL-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1f9f2e-7a09-4e2d-bb99-c881a34a8da2	e5a23b9d-18a0-4cb4-8743-3d53fc3c45b4	g.chr2:225662683G>A	ENST00000258390.7	-	42	4577	c.4510C>T	c.(4510-4512)Caa>Taa	p.Q1504*	DOCK10_ENST00000409592.3_Nonsense_Mutation_p.Q1498*	NM_014689.2	NP_055504.2	Q96BY6	DOC10_HUMAN	dedicator of cytokinesis 10	1504					regulation of cell migration (GO:0030334)|small GTPase mediated signal transduction (GO:0007264)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(10)|large_intestine(16)|lung(40)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	87		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)		TGTTGGAGTTGTCTCTGGAAA	0.363																																						ENST00000409592.3																			0				NS(1)|breast(3)|cervix(1)|endometrium(6)|kidney(10)|large_intestine(16)|lung(40)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	87						c.(4492-4494)Caa>Taa		dedicator of cytokinesis 10							58.0	57.0	57.0					2																	225662683		1863	4095	5958	SO:0001587	stop_gained	55619						GTP binding	g.chr2:225662683G>A	AB014594	CCDS46528.1, CCDS74661.1	2q36.3	2013-01-10			ENSG00000135905	ENSG00000135905		"""Pleckstrin homology (PH) domain containing"""	23479	protein-coding gene	gene with protein product	"""zizimin3"""	611518				12432077	Standard	NM_014689		Approved	ZIZ3, KIAA0694	uc010fwz.1	Q96BY6	OTTHUMG00000153428	ENST00000258390.7:c.4510C>T	2.37:g.225662683G>A	ENSP00000258390:p.Gln1504*					DOCK10_ENST00000258390.7_Nonsense_Mutation_p.Q1504*	p.Q1498*			Q96BY6	DOC10_HUMAN		Epithelial(121;2.37e-10)|all cancers(144;2.26e-07)|Lung(261;0.0143)|LUSC - Lung squamous cell carcinoma(224;0.0178)	42	4605	-		Renal(207;0.0113)|all_lung(227;0.0486)|Lung NSC(271;0.0653)|all_hematologic(139;0.14)	1504					B3FL70|O75178|Q9NW06|Q9NXI8	Nonsense_Mutation	SNP	ENST00000258390.7	37	c.4492C>T	CCDS46528.1	.	.	.	.	.	.	.	.	.	.	G	45	11.607508	0.99582	.	.	ENSG00000135905	ENST00000409592;ENST00000258390;ENST00000373702	.	.	.	5.95	5.95	0.96441	.	0.051933	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.36615	T	0.2	.	14.3028	0.66364	0.0:0.0:0.852:0.148	.	.	.	.	X	1498;1504;42	.	ENSP00000258390:Q1504X	Q	-	1	0	DOCK10	225370927	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.960000	0.76036	2.824000	0.97209	0.655000	0.94253	CAA		0.363	DOCK10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331246.1			3	35	0	0	0	1	0	3	35				
PSMB4	5692	broad.mit.edu	37	1	151372581	151372581	+	Nonsense_Mutation	SNP	C	C	T			TCGA-J9-A8CL-01A-11D-A34U-08	TCGA-J9-A8CL-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1f9f2e-7a09-4e2d-bb99-c881a34a8da2	e5a23b9d-18a0-4cb4-8743-3d53fc3c45b4	g.chr1:151372581C>T	ENST00000290541.6	+	2	319	c.265C>T	c.(265-267)Cga>Tga	p.R89*		NM_002796.2	NP_002787.2	P28070	PSB4_HUMAN	proteasome (prosome, macropain) subunit, beta type, 4	89					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of inflammatory response to antigenic stimulus (GO:0002862)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|viral process (GO:0016032)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome complex (GO:0000502)|proteasome core complex (GO:0005839)	lipopolysaccharide binding (GO:0001530)|threonine-type endopeptidase activity (GO:0004298)			endometrium(1)|lung(9)|ovary(2)|prostate(1)|skin(1)	14	Lung SC(34;0.00471)|Ovarian(49;0.00871)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)			TCGCATTATGCGAGTCAACAA	0.537																																						ENST00000290541.6																			0				endometrium(1)|lung(9)|ovary(2)|prostate(1)|skin(1)	14						c.(265-267)Cga>Tga		proteasome (prosome, macropain) subunit, beta type, 4							168.0	169.0	168.0					1																	151372581		2203	4300	6503	SO:0001587	stop_gained	5692				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|interspecies interaction between organisms|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|viral reproduction	cytoplasm|nucleus|proteasome core complex	threonine-type endopeptidase activity	g.chr1:151372581C>T	D26600	CCDS996.1	1q21	2008-02-05			ENSG00000159377	ENSG00000159377		"""Proteasome (prosome, macropain) subunits"""	9541	protein-coding gene	gene with protein product		602177				7918633	Standard	NM_002796		Approved	HN3, PROS26	uc001eyc.1	P28070	OTTHUMG00000012494	ENST00000290541.6:c.265C>T	1.37:g.151372581C>T	ENSP00000290541:p.Arg89*						p.R89*	NM_002796.2	NP_002787.2	P28070	PSB4_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (35;0.112)|LUSC - Lung squamous cell carcinoma(543;0.181)		2	319	+	Lung SC(34;0.00471)|Ovarian(49;0.00871)|Hepatocellular(266;0.0997)|all_hematologic(923;0.127)|Melanoma(130;0.185)		89					B2R9L3|P31148|Q5SZS5|Q6IBI4|Q969L6	Nonsense_Mutation	SNP	ENST00000290541.6	37	c.265C>T	CCDS996.1	.	.	.	.	.	.	.	.	.	.	C	23.8	4.459609	0.84317	.	.	ENSG00000159377	ENST00000290541	.	.	.	5.34	2.32	0.28847	.	0.261003	0.36703	N	0.002445	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.24483	T	0.36	-0.0211	13.7733	0.63038	0.6506:0.3494:0.0:0.0	.	.	.	.	X	89	.	ENSP00000290541:R89X	R	+	1	2	PSMB4	149639205	0.998000	0.40836	0.954000	0.39281	0.610000	0.37248	0.845000	0.27668	0.197000	0.20387	-0.314000	0.08810	CGA		0.537	PSMB4-001	KNOWN	mRNA_start_NF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034885.1	NM_002796		4	188	0	0	0	1	0	4	188				
CDRT1	374286	broad.mit.edu	37	17	15522583	15522583	+	Missense_Mutation	SNP	C	C	T			TCGA-J9-A8CL-01A-11D-A34U-08	TCGA-J9-A8CL-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1f9f2e-7a09-4e2d-bb99-c881a34a8da2	e5a23b9d-18a0-4cb4-8743-3d53fc3c45b4	g.chr17:15522583C>T	ENST00000395906.3	-	1	243	c.244G>A	c.(244-246)Gga>Aga	p.G82R	RP11-385D13.1_ENST00000455584.2_Intron	NM_006382.3	NP_006373.2	O95170	CDRT1_HUMAN	CMT1A duplicated region transcript 1	82										endometrium(2)|kidney(1)|large_intestine(4)|lung(1)|stomach(1)|upper_aerodigestive_tract(1)	10				UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)|READ - Rectum adenocarcinoma(2;1.36e-05)|BRCA - Breast invasive adenocarcinoma(8;0.0541)		AAATCCTTTCCCTGTGTGGTC	0.398																																						ENST00000395906.3																			0				endometrium(2)|kidney(1)|large_intestine(4)|lung(1)|stomach(1)|upper_aerodigestive_tract(1)	10						c.(244-246)Gga>Aga		CMT1A duplicated region transcript 1							83.0	89.0	87.0					17																	15522583		2201	4297	6498	SO:0001583	missense	374286							g.chr17:15522583C>T	U65652	CCDS45619.1, CCDS73996.1	17p11	2013-01-10			ENSG00000241322	ENSG00000241322		"""F-boxes / WD-40 domains"", ""WD repeat domain containing"""	14379	protein-coding gene	gene with protein product		604596	"""F-box and WD repeat domain containing 10 pseudogene 1"", ""F-box and WD-40 domain protein 10 pseudogene 1"""	FBXW10P1		9787083, 11381029	Standard	NM_006382		Approved	HREP, SM25H2, FBXW10B		O95170	OTTHUMG00000059074	ENST00000395906.3:c.244G>A	17.37:g.15522583C>T	ENSP00000379242:p.Gly82Arg					RP11-385D13.1_ENST00000455584.2_Intron	p.G82R	NM_006382.3	NP_006373.2	O95170	CDRT1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.0822)|READ - Rectum adenocarcinoma(2;1.36e-05)|BRCA - Breast invasive adenocarcinoma(8;0.0541)	1	243	-			82					O43848|O95611	Missense_Mutation	SNP	ENST00000395906.3	37	c.244G>A	CCDS45619.1	.	.	.	.	.	.	.	.	.	.	.	16.95	3.262530	0.59431	.	.	ENSG00000251537	ENST00000261644;ENST00000395906	T	0.26067	1.76	4.92	4.92	0.64577	.	.	.	.	.	T	0.44891	0.1315	L	0.59436	1.845	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.28235	-1.0050	9	0.49607	T	0.09	.	11.5517	0.50725	0.0:0.9118:0.0:0.0882	.	82	O95170	CDRT1_HUMAN	R	82	ENSP00000379242:G82R	ENSP00000261644:G82R	G	-	1	0	RP11-385D13.1	15463308	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	3.106000	0.50322	2.441000	0.82636	0.484000	0.47621	GGA		0.398	CDRT1-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000448127.1	NM_006382		4	126	0	0	0	1	0	4	126				
FAM49B	51571	broad.mit.edu	37	8	130867925	130867925	+	Silent	SNP	G	G	T			TCGA-J9-A8CL-01A-11D-A34U-08	TCGA-J9-A8CL-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1f9f2e-7a09-4e2d-bb99-c881a34a8da2	e5a23b9d-18a0-4cb4-8743-3d53fc3c45b4	g.chr8:130867925G>T	ENST00000519824.2	-	6	643	c.370C>A	c.(370-372)Cga>Aga	p.R124R	FAM49B_ENST00000522250.1_5'UTR|FAM49B_ENST00000401979.2_Silent_p.R124R|FAM49B_ENST00000523509.1_Silent_p.R124R|FAM49B_ENST00000517654.1_Silent_p.R124R|FAM49B_ENST00000518879.1_5'UTR|FAM49B_ENST00000519540.1_Silent_p.R124R|FAM49B_ENST00000522746.1_Silent_p.R124R|FAM49B_ENST00000522941.1_5'UTR|FAM49B_ENST00000519110.1_Silent_p.R124R	NM_016623.4	NP_057707.3	Q9NUQ9	FA49B_HUMAN	family with sequence similarity 49, member B	124						cilium (GO:0005929)|extracellular vesicular exosome (GO:0070062)		p.R124*(1)		kidney(1)|large_intestine(6)|lung(4)|prostate(1)	12	Ovarian(5;0.000567)|Esophageal squamous(12;0.00693)|Acute lymphoblastic leukemia(118;0.155)		LUAD - Lung adenocarcinoma(14;0.0989)			GCCTGCTCTCGCTCTAGATGC	0.398																																						ENST00000519824.2																			1	Substitution - Nonsense(1)	p.R124*(1)	large_intestine(1)	kidney(1)|large_intestine(6)|lung(4)|prostate(1)	12						c.(370-372)Cga>Aga		family with sequence similarity 49, member B							86.0	89.0	88.0					8																	130867925		2203	4300	6503	SO:0001819	synonymous_variant	51571							g.chr8:130867925G>T	AF208851	CCDS6361.1	8q24	2004-08-20				ENSG00000153310			25216	protein-coding gene	gene with protein product							Standard	NM_001256763		Approved	BM-009	uc003ysu.4	Q9NUQ9		ENST00000519824.2:c.370C>A	8.37:g.130867925G>T						FAM49B_ENST00000519540.1_Silent_p.R124R|FAM49B_ENST00000517654.1_Silent_p.R124R|FAM49B_ENST00000519110.1_Silent_p.R124R|FAM49B_ENST00000518879.1_5'UTR|FAM49B_ENST00000522250.1_5'UTR|FAM49B_ENST00000523509.1_Silent_p.R124R|FAM49B_ENST00000522746.1_Silent_p.R124R|FAM49B_ENST00000522941.1_5'UTR|FAM49B_ENST00000401979.2_Silent_p.R124R	p.R124R	NM_016623.4	NP_057707.3	Q9NUQ9	FA49B_HUMAN	LUAD - Lung adenocarcinoma(14;0.0989)		6	643	-	Ovarian(5;0.000567)|Esophageal squamous(12;0.00693)|Acute lymphoblastic leukemia(118;0.155)		124					Q96AZ5|Q9NW21|Q9NZE7	Silent	SNP	ENST00000519824.2	37	c.370C>A	CCDS6361.1	.	.	.	.	.	.	.	.	.	.	G	10.93	1.489853	0.26686	.	.	ENSG00000153310	ENST00000311292	.	.	.	6.16	6.16	0.99307	.	.	.	.	.	T	0.48589	0.1508	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.35025	-0.9805	5	0.02654	T	1	-3.992	19.848	0.96722	0.0:0.0:1.0:0.0	.	.	.	.	E	78	.	ENSP00000311651:A78E	A	-	2	0	FAM49B	130937107	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.004000	0.88535	2.937000	0.99478	0.650000	0.86243	GCG		0.398	FAM49B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380390.2	NM_016623		4	120	1	0	0.000602214	1	0.00064523	4	120				
GRM8	2918	broad.mit.edu	37	7	126086370	126086370	+	Silent	SNP	A	A	T			TCGA-J9-A8CL-01A-11D-A34U-08	TCGA-J9-A8CL-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1f9f2e-7a09-4e2d-bb99-c881a34a8da2	e5a23b9d-18a0-4cb4-8743-3d53fc3c45b4	g.chr7:126086370A>T	ENST00000339582.2	-	10	3295	c.2487T>A	c.(2485-2487)tcT>tcA	p.S829S	GRM8_ENST00000444921.2_Silent_p.S829S|GRM8_ENST00000358373.3_Silent_p.S829S			O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8	829					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|negative regulation of cAMP biosynthetic process (GO:0030818)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of smell (GO:0007608)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642)			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)				GCATGCCCAGAGATACTGAAG	0.398										HNSCC(24;0.065)																												ENST00000339582.2																			0				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125						c.(2485-2487)tcT>tcA		glutamate receptor, metabotropic 8	L-Glutamic Acid(DB00142)						62.0	61.0	61.0					7																	126086370		2203	4300	6503	SO:0001819	synonymous_variant	0				negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane		g.chr7:126086370A>T		CCDS5794.1, CCDS47696.1	7q31.3-q32.1	2012-08-29			ENSG00000179603	ENSG00000179603		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4600	protein-coding gene	gene with protein product		601116				8824806	Standard	NM_000845		Approved	GLUR8, GPRC1H, mGlu8, MGLUR8	uc003vlr.2	O00222	OTTHUMG00000022888	ENST00000339582.2:c.2487T>A	7.37:g.126086370A>T		HNSCC(24;0.065)				GRM8_ENST00000444921.2_Silent_p.S829S|GRM8_ENST00000358373.3_Silent_p.S829S	p.S829S			O00222	GRM8_HUMAN			10	3295	-		Prostate(267;0.186)	829					A4D0Y3|B0FZ74|B0M0L0|O15493|O95945|O95946|Q3MIV9|Q52M02|Q6J165	Silent	SNP	ENST00000339582.2	37	c.2487T>A	CCDS5794.1																																																																																				0.398	GRM8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059209.4			30	49	0	0	0	1	0	30	49				
MFSD9	84804	broad.mit.edu	37	2	103353178	103353178	+	Missense_Mutation	SNP	T	T	A			TCGA-J9-A8CL-01A-11D-A34U-08	TCGA-J9-A8CL-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1f9f2e-7a09-4e2d-bb99-c881a34a8da2	e5a23b9d-18a0-4cb4-8743-3d53fc3c45b4	g.chr2:103353178T>A	ENST00000258436.5	-	1	135	c.92A>T	c.(91-93)gAg>gTg	p.E31V	TMEM182_ENST00000409173.1_5'Flank|TMEM182_ENST00000409528.1_5'Flank	NM_032718.3	NP_116107.3	Q8NBP5	MFSD9_HUMAN	major facilitator superfamily domain containing 9	31					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			breast(3)|large_intestine(7)|liver(1)|lung(6)|ovary(2)|skin(1)	20						AGCCTCCGCCTCGGTTCCTGT	0.672																																						ENST00000258436.5																			0				breast(3)|large_intestine(7)|liver(1)|lung(6)|ovary(2)|skin(1)	20						c.(91-93)gAg>gTg		major facilitator superfamily domain containing 9							33.0	39.0	37.0					2																	103353178		2202	4299	6501	SO:0001583	missense	84804				transmembrane transport	integral to membrane|plasma membrane	transporter activity	g.chr2:103353178T>A		CCDS2063.1	2q12.1	2007-01-12			ENSG00000135953	ENSG00000135953			28158	protein-coding gene	gene with protein product							Standard	NM_032718		Approved	MGC11332	uc002tcb.2	Q8NBP5	OTTHUMG00000130781	ENST00000258436.5:c.92A>T	2.37:g.103353178T>A	ENSP00000258436:p.Glu31Val						p.E31V	NM_032718.3	NP_116107.3	Q8NBP5	MFSD9_HUMAN			1	135	-			31					Q4ZG89|Q53TU0|Q96GQ4|Q9BRI8	Missense_Mutation	SNP	ENST00000258436.5	37	c.92A>T	CCDS2063.1	.	.	.	.	.	.	.	.	.	.	T	14.86	2.661492	0.47572	.	.	ENSG00000135953	ENST00000258436	T	0.66460	-0.21	3.76	-1.78	0.07957	Major facilitator superfamily domain, general substrate transporter (1);	0.851134	0.09753	N	0.760271	T	0.42223	0.1193	N	0.19112	0.55	0.09310	N	1	B	0.30068	0.267	B	0.24541	0.054	T	0.16897	-1.0387	10	0.30078	T	0.28	.	4.1651	0.10303	0.0:0.2021:0.324:0.4739	.	31	Q8NBP5	MFSD9_HUMAN	V	31	ENSP00000258436:E31V	ENSP00000258436:E31V	E	-	2	0	MFSD9	102719610	0.000000	0.05858	0.000000	0.03702	0.081000	0.17604	-0.441000	0.06879	-0.420000	0.07427	0.454000	0.30748	GAG		0.672	MFSD9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253295.2	NM_032718		6	26	0	0	0	1	0	6	26				
MYO7B	4648	broad.mit.edu	37	2	128335737	128335737	+	Silent	SNP	C	C	T	rs369461546		TCGA-J9-A8CL-01A-11D-A34U-08	TCGA-J9-A8CL-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1f9f2e-7a09-4e2d-bb99-c881a34a8da2	e5a23b9d-18a0-4cb4-8743-3d53fc3c45b4	g.chr2:128335737C>T	ENST00000409816.2	+	8	911	c.879C>T	c.(877-879)aaC>aaT	p.N293N	MYO7B_ENST00000389524.4_Silent_p.N293N|MYO7B_ENST00000428314.1_Silent_p.N293N			Q6PIF6	MYO7B_HUMAN	myosin VIIB	293	Myosin motor.					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)		AGGGGCTCAACGACGCCAAGG	0.632																																						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.(877-879)aaC>aaT		myosin VIIB		C		0,4234		0,0,2117	56.0	62.0	60.0		879	-6.6	0.0	2		60	1,8449		0,1,4224	no	coding-synonymous	MYO7B	NM_001080527.1		0,1,6341	TT,TC,CC		0.0118,0.0,0.0079		293/2117	128335737	1,12683	2117	4225	6342	SO:0001819	synonymous_variant	4648					apical plasma membrane|myosin complex	actin binding|ATP binding|motor activity	g.chr2:128335737C>T		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.879C>T	2.37:g.128335737C>T						MYO7B_ENST00000409816.2_Silent_p.N293N|MYO7B_ENST00000428314.1_Silent_p.N293N	p.N293N			Q6PIF6	MYO7B_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0753)	9	932	+	Colorectal(110;0.1)		293			Myosin head-like.		Q14786|Q8TEE1	Silent	SNP	ENST00000409816.2	37	c.879C>T	CCDS46405.1																																																																																				0.632	MYO7B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000331124.3	XM_291001		9	16	0	0	0	1	0	9	16				
CA14	23632	broad.mit.edu	37	1	150234607	150234607	+	Missense_Mutation	SNP	T	T	A			TCGA-J9-A8CL-01A-11D-A34U-08	TCGA-J9-A8CL-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1f9f2e-7a09-4e2d-bb99-c881a34a8da2	e5a23b9d-18a0-4cb4-8743-3d53fc3c45b4	g.chr1:150234607T>A	ENST00000369111.4	+	4	1277	c.307T>A	c.(307-309)Tat>Aat	p.Y103N	snoU13_ENST00000458929.1_RNA	NM_012113.1	NP_036245.1	Q9ULX7	CAH14_HUMAN	carbonic anhydrase XIV	103					bicarbonate transport (GO:0015701)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbonate dehydratase activity (GO:0004089)|metal ion binding (GO:0046872)			central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(2)|prostate(2)	18	Lung NSC(24;7.29e-29)|Breast(34;0.00211)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)		Acetazolamide(DB00819)|Zonisamide(DB00909)	TCCCCGAAAATATGTAGCTGC	0.537																																						ENST00000369111.4																			0				central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(6)|ovary(2)|prostate(2)	18						c.(307-309)Tat>Aat		carbonic anhydrase XIV							112.0	102.0	105.0					1																	150234607		2203	4300	6503	SO:0001583	missense	23632					integral to membrane	carbonate dehydratase activity|metal ion binding	g.chr1:150234607T>A	AB025904	CCDS947.1	1q21	2008-02-05			ENSG00000118298	ENSG00000118298		"""Carbonic anhydrases"""	1372	protein-coding gene	gene with protein product		604832				10512682	Standard	XM_005245059		Approved		uc001etx.3	Q9ULX7	OTTHUMG00000012549	ENST00000369111.4:c.307T>A	1.37:g.150234607T>A	ENSP00000358107:p.Tyr103Asn						p.Y103N	NM_012113.1	NP_036245.1	Q9ULX7	CAH14_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)		4	1277	+	Lung NSC(24;7.29e-29)|Breast(34;0.00211)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		103					Q5TB24|Q8NCF4	Missense_Mutation	SNP	ENST00000369111.4	37	c.307T>A	CCDS947.1	.	.	.	.	.	.	.	.	.	.	T	21.4	4.146318	0.77888	.	.	ENSG00000118298	ENST00000369111	T	0.75821	-0.97	5.05	5.05	0.67936	Carbonic anhydrase, alpha-class, catalytic domain (4);	0.118890	0.64402	D	0.000019	D	0.88840	0.6546	H	0.97158	3.95	0.45150	D	0.998166	D	0.89917	1.0	D	0.97110	1.0	D	0.92052	0.5649	10	0.87932	D	0	.	12.7878	0.57516	0.0:0.0:0.0:1.0	.	103	Q9ULX7	CAH14_HUMAN	N	103	ENSP00000358107:Y103N	ENSP00000358107:Y103N	Y	+	1	0	CA14	148501231	0.999000	0.42202	0.834000	0.33040	0.781000	0.44180	7.112000	0.77086	2.135000	0.66039	0.379000	0.24179	TAT		0.537	CA14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000035064.2	NM_012113		5	96	0	0	0	1	0	5	96				
TLK1	9874	broad.mit.edu	37	2	171884862	171884862	+	Missense_Mutation	SNP	C	C	G			TCGA-J9-A8CL-01A-11D-A34U-08	TCGA-J9-A8CL-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1f9f2e-7a09-4e2d-bb99-c881a34a8da2	e5a23b9d-18a0-4cb4-8743-3d53fc3c45b4	g.chr2:171884862C>G	ENST00000431350.2	-	12	1627	c.1223G>C	c.(1222-1224)gGa>gCa	p.G408A	TLK1_ENST00000360843.3_Missense_Mutation_p.G429A|TLK1_ENST00000442919.2_Missense_Mutation_p.G360A|TLK1_ENST00000521943.1_Missense_Mutation_p.G360A|TLK1_ENST00000434911.2_Missense_Mutation_p.G312A			Q9UKI8	TLK1_HUMAN	tousled-like kinase 1	408					cell cycle (GO:0007049)|cellular response to DNA damage stimulus (GO:0006974)|chromatin modification (GO:0016568)|intracellular protein transport (GO:0006886)|intracellular signal transduction (GO:0035556)|protein phosphorylation (GO:0006468)|regulation of chromatin assembly or disassembly (GO:0001672)	nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(8)|liver(3)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	33						TTTGAGATGTCCTAGTCTAAG	0.303																																						ENST00000442919.2																			0				breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(8)|liver(3)|lung(10)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	33						c.(1078-1080)gGa>gCa		tousled-like kinase 1							155.0	147.0	150.0					2																	171884862		2203	4300	6503	SO:0001583	missense	9874				cell cycle|chromatin modification|intracellular protein transport|intracellular signal transduction|regulation of chromatin assembly or disassembly|response to DNA damage stimulus	nucleus	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr2:171884862C>G	AB004885	CCDS2241.1, CCDS46447.1, CCDS46448.1	2q31.1	2010-04-19			ENSG00000198586	ENSG00000198586			11841	protein-coding gene	gene with protein product		608438				9427565, 12660173	Standard	NM_012290		Approved	KIAA0137, PKU-BETA	uc002ugp.2	Q9UKI8	OTTHUMG00000132243	ENST00000431350.2:c.1223G>C	2.37:g.171884862C>G	ENSP00000411099:p.Gly408Ala					TLK1_ENST00000431350.2_Missense_Mutation_p.G408A|TLK1_ENST00000434911.2_Missense_Mutation_p.G312A|TLK1_ENST00000521943.1_Missense_Mutation_p.G360A|TLK1_ENST00000360843.3_Missense_Mutation_p.G429A	p.G360A	NM_012290.4	NP_036422.3	Q9UKI8	TLK1_HUMAN			12	1694	-			408					B3KR15|B4DX87|Q14150|Q8N591|Q9NYH2|Q9Y4F6	Missense_Mutation	SNP	ENST00000431350.2	37	c.1079G>C	CCDS2241.1	.	.	.	.	.	.	.	.	.	.	C	12.66	2.003575	0.35320	.	.	ENSG00000198586	ENST00000442919;ENST00000431350;ENST00000360843;ENST00000521943;ENST00000434911	T;T;T;T;T	0.62105	0.08;0.05;0.05;0.08;0.07	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	T	0.54515	0.1863	L	0.31371	0.925	0.58432	D	0.999997	B;B;B	0.27679	0.001;0.004;0.185	B;B;B	0.31191	0.005;0.02;0.125	T	0.48445	-0.9035	10	0.30078	T	0.28	-29.8848	18.6541	0.91441	0.0:1.0:0.0:0.0	.	312;429;408	B4DX87;Q9UKI8-2;Q9UKI8	.;.;TLK1_HUMAN	A	360;408;429;360;312	ENSP00000402165:G360A;ENSP00000411099:G408A;ENSP00000354089:G429A;ENSP00000428113:G360A;ENSP00000409222:G312A	ENSP00000354089:G429A	G	-	2	0	TLK1	171593108	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.165000	0.71891	2.699000	0.92147	0.655000	0.94253	GGA		0.303	TLK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255314.1	NM_012290		5	22	0	0	0	1	0	5	22				
MUC17	140453	broad.mit.edu	37	7	100676261	100676261	+	Missense_Mutation	SNP	C	C	A			TCGA-J9-A8CL-01A-11D-A34U-08	TCGA-J9-A8CL-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1f9f2e-7a09-4e2d-bb99-c881a34a8da2	e5a23b9d-18a0-4cb4-8743-3d53fc3c45b4	g.chr7:100676261C>A	ENST00000306151.4	+	3	1628	c.1564C>A	c.(1564-1566)Ccg>Acg	p.P522T		NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN	mucin 17, cell surface associated	522	59 X approximate tandem repeats.|Ser-rich.				cellular homeostasis (GO:0019725)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	apical plasma membrane (GO:0016324)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)	extracellular matrix constituent, lubricant activity (GO:0030197)|PDZ domain binding (GO:0030165)			NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343	Lung NSC(181;0.136)|all_lung(186;0.182)					CAGCACCATGCCGGTGGCCAG	0.498																																						ENST00000306151.4																			0				NS(3)|breast(14)|central_nervous_system(2)|cervix(2)|endometrium(27)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(28)|lung(179)|ovary(19)|pancreas(1)|prostate(13)|skin(26)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	343						c.(1564-1566)Ccg>Acg		mucin 17, cell surface associated							350.0	355.0	353.0					7																	100676261		2203	4300	6503	SO:0001583	missense	140453					extracellular region|integral to membrane|plasma membrane	extracellular matrix constituent, lubricant activity	g.chr7:100676261C>A	AJ606307	CCDS34711.1	7q22	2007-01-17	2006-03-14		ENSG00000169876	ENSG00000169876		"""Mucins"""	16800	protein-coding gene	gene with protein product		608424				11855812	Standard	NM_001040105		Approved		uc003uxp.1	Q685J3	OTTHUMG00000157030	ENST00000306151.4:c.1564C>A	7.37:g.100676261C>A	ENSP00000302716:p.Pro522Thr						p.P522T	NM_001040105.1	NP_001035194.1	Q685J3	MUC17_HUMAN			3	1628	+	Lung NSC(181;0.136)|all_lung(186;0.182)		522			59 X approximate tandem repeats.|Ser-rich.		O14761|Q685J2|Q8TDH7	Missense_Mutation	SNP	ENST00000306151.4	37	c.1564C>A	CCDS34711.1	.	.	.	.	.	.	.	.	.	.	C	0.617	-0.822767	0.02755	.	.	ENSG00000169876	ENST00000306151	T	0.03212	4.01	1.1	-2.2	0.06994	.	.	.	.	.	T	0.01940	0.0061	N	0.24115	0.695	0.09310	N	1	B	0.21225	0.053	B	0.11329	0.006	T	0.48592	-0.9022	9	0.08179	T	0.78	.	2.9111	0.05737	0.2138:0.4637:0.0:0.3225	.	522	Q685J3	MUC17_HUMAN	T	522	ENSP00000302716:P522T	ENSP00000302716:P522T	P	+	1	0	MUC17	100462981	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.798000	0.01747	-0.972000	0.03559	0.501000	0.49751	CCG		0.498	MUC17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347161.1	NM_001040105		8	744	1	0	1.12685e-05	1	1.25206e-05	8	744				
TTN	7273	broad.mit.edu	37	2	179485645	179485645	+	Missense_Mutation	SNP	A	A	G			TCGA-J9-A8CL-01A-11D-A34U-08	TCGA-J9-A8CL-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1f9f2e-7a09-4e2d-bb99-c881a34a8da2	e5a23b9d-18a0-4cb4-8743-3d53fc3c45b4	g.chr2:179485645A>G	ENST00000591111.1	-	197	40993	c.40769T>C	c.(40768-40770)gTc>gCc	p.V13590A	TTN_ENST00000342992.6_Missense_Mutation_p.V12663A|TTN-AS1_ENST00000589487.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.V6291A|TTN_ENST00000460472.2_Missense_Mutation_p.V6166A|TTN_ENST00000589042.1_Missense_Mutation_p.V15231A|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.V6358A|TTN-AS1_ENST00000604956.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589907.1_RNA			Q8WZ42	TITIN_HUMAN	titin	13590	Ig-like 92.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTCAGTATTGACTTCACAGTT	0.403																																						ENST00000589042.1																			0				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.(45691-45693)gTc>gCc		titin							107.0	100.0	102.0					2																	179485645		1856	4088	5944	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179485645A>G	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.40769T>C	2.37:g.179485645A>G	ENSP00000465570:p.Val13590Ala					TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.V13590A|TTN_ENST00000460472.2_Missense_Mutation_p.V6166A|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.V6291A|TTN_ENST00000342992.6_Missense_Mutation_p.V12663A|TTN_ENST00000342175.6_Missense_Mutation_p.V6358A	p.V15231A	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)		247	45916	-			13590			Fibronectin type-III 11.		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.45692T>C		.	.	.	.	.	.	.	.	.	.	A	12.85	2.062443	0.36373	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.73575	-0.76;-0.76;-0.76;-0.76	5.83	5.83	0.93111	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.66742	0.2820	L	0.35487	1.065	0.50813	D	0.999893	B;B;B;P	0.36199	0.37;0.37;0.37;0.543	B;B;B;B	0.34991	0.114;0.114;0.114;0.193	T	0.70757	-0.4785	9	0.87932	D	0	.	16.1968	0.82036	1.0:0.0:0.0:0.0	.	6166;6291;6358;13590	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	A	12663;6166;6358;6291;6166	ENSP00000343764:V12663A;ENSP00000434586:V6166A;ENSP00000340554:V6358A;ENSP00000352154:V6291A	ENSP00000340554:V6358A	V	-	2	0	TTN	179193890	1.000000	0.71417	1.000000	0.80357	0.972000	0.66771	7.446000	0.80609	2.225000	0.72522	0.533000	0.62120	GTC		0.403	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		10	55	0	0	0	1	0	10	55				
OR10J3	441911	broad.mit.edu	37	1	159284004	159284004	+	Missense_Mutation	SNP	G	G	A			TCGA-J9-A8CL-01A-11D-A34U-08	TCGA-J9-A8CL-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1f9f2e-7a09-4e2d-bb99-c881a34a8da2	e5a23b9d-18a0-4cb4-8743-3d53fc3c45b4	g.chr1:159284004G>A	ENST00000332217.5	-	1	445	c.446C>T	c.(445-447)tCa>tTa	p.S149L		NM_001004467.1	NP_001004467.1	Q5JRS4	O10J3_HUMAN	olfactory receptor, family 10, subfamily J, member 3	149						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|endometrium(7)|kidney(4)|large_intestine(7)|lung(19)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	47	all_hematologic(112;0.0429)					AATCCCCAGTGATCCAGAGGC	0.512																																						ENST00000332217.5																			0				breast(2)|endometrium(7)|kidney(4)|large_intestine(7)|lung(19)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	47						c.(445-447)tCa>tTa		olfactory receptor, family 10, subfamily J, member 3							69.0	63.0	65.0					1																	159284004		2203	4300	6503	SO:0001583	missense	441911				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:159284004G>A		CCDS30909.1	1q23.2	2012-08-09		2004-03-10	ENSG00000196266	ENSG00000196266		"""GPCR / Class A : Olfactory receptors"""	14992	protein-coding gene	gene with protein product				OR10J3P			Standard	NM_001004467		Approved		uc010piu.2	Q5JRS4	OTTHUMG00000037233	ENST00000332217.5:c.446C>T	1.37:g.159284004G>A	ENSP00000331789:p.Ser149Leu						p.S149L	NM_001004467.1	NP_001004467.1	Q5JRS4	O10J3_HUMAN			1	445	-	all_hematologic(112;0.0429)		149						Missense_Mutation	SNP	ENST00000332217.5	37	c.446C>T	CCDS30909.1	.	.	.	.	.	.	.	.	.	.	G	15.18	2.755634	0.49362	.	.	ENSG00000196266	ENST00000332217	T	0.37752	1.18	5.03	4.09	0.47781	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.45175	0.1329	M	0.80982	2.52	0.31061	N	0.714109	P	0.43701	0.815	P	0.56127	0.792	T	0.48559	-0.9025	9	0.72032	D	0.01	.	12.9828	0.58575	0.0:0.1637:0.8363:0.0	.	149	Q5JRS4	O10J3_HUMAN	L	149	ENSP00000331789:S149L	ENSP00000331789:S149L	S	-	2	0	OR10J3	157550628	0.050000	0.20438	0.198000	0.23420	0.284000	0.27059	1.503000	0.35715	1.265000	0.44215	0.561000	0.74099	TCA		0.512	OR10J3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090629.1			7	50	0	0	0	1	0	7	50				
PPARGC1B	133522	broad.mit.edu	37	5	149212575	149212575	+	Silent	SNP	C	C	G			TCGA-J9-A8CL-01A-11D-A34U-08	TCGA-J9-A8CL-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1f9f2e-7a09-4e2d-bb99-c881a34a8da2	e5a23b9d-18a0-4cb4-8743-3d53fc3c45b4	g.chr5:149212575C>G	ENST00000309241.5	+	5	971	c.939C>G	c.(937-939)ccC>ccG	p.P313P	PPARGC1B_ENST00000403750.1_Silent_p.P249P|PPARGC1B_ENST00000394320.3_Silent_p.P313P|PPARGC1B_ENST00000360453.4_Silent_p.P274P	NM_133263.3	NP_573570.3	Q86YN6	PRGC2_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator 1 beta	313					actin filament organization (GO:0007015)|bone trabecula formation (GO:0060346)|cellular lipid metabolic process (GO:0044255)|cellular response to reactive oxygen species (GO:0034614)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of transcription, DNA-templated (GO:0045892)|ossification (GO:0001503)|positive regulation of alkaline phosphatase activity (GO:0010694)|positive regulation of bone resorption (GO:0045780)|positive regulation of osteoclast differentiation (GO:0045672)|positive regulation of phosphorylation (GO:0042327)|positive regulation of receptor activity (GO:2000273)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to cAMP (GO:0051591)|response to glucocorticoid (GO:0051384)|small molecule metabolic process (GO:0044281)|transcription from mitochondrial promoter (GO:0006390)|transcription from RNA polymerase II promoter (GO:0006366)	mediator complex (GO:0016592)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	AF-2 domain binding (GO:0050682)|estrogen receptor binding (GO:0030331)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nucleotide binding (GO:0000166)|receptor activator activity (GO:0030546)|RNA binding (GO:0003723)|RNA polymerase II transcription cofactor activity (GO:0001104)			NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(2)|lung(15)|ovary(3)|prostate(2)|stomach(1)	30			KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)			AGCCACTCCCCAAGGCCTGCA	0.627																																						ENST00000309241.5																			0				NS(1)|breast(1)|endometrium(1)|kidney(3)|large_intestine(1)|liver(2)|lung(15)|ovary(3)|prostate(2)|stomach(1)	30						c.(937-939)ccC>ccG		peroxisome proliferator-activated receptor gamma, coactivator 1 beta							42.0	49.0	46.0					5																	149212575		2203	4300	6503	SO:0001819	synonymous_variant	133522				estrogen receptor signaling pathway|positive regulation of transcription from RNA polymerase II promoter	mediator complex	AF-2 domain binding|estrogen receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|receptor activator activity|RNA binding|RNA polymerase II transcription cofactor activity	g.chr5:149212575C>G	AF468496	CCDS4298.1, CCDS54933.1, CCDS54934.1	5q33.1	2013-02-12	2006-10-17		ENSG00000155846	ENSG00000155846		"""RNA binding motif (RRM) containing"""	30022	protein-coding gene	gene with protein product		608886	"""peroxisome proliferative activated receptor, gamma, coactivator 1, beta"""			11793024, 11854298	Standard	NM_133263		Approved	PERC, PGC1B	uc003lrc.3	Q86YN6	OTTHUMG00000130055	ENST00000309241.5:c.939C>G	5.37:g.149212575C>G						PPARGC1B_ENST00000360453.4_Silent_p.P274P|PPARGC1B_ENST00000403750.1_Silent_p.P249P|PPARGC1B_ENST00000394320.3_Silent_p.P313P	p.P313P	NM_133263.3	NP_573570.3	Q86YN6	PRGC2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.000962)|Kidney(363;0.00147)		5	971	+			313					A2RUM8|A2RUN0|B3KVW0|Q86YN3|Q86YN4|Q86YN5|Q8N1N9|Q8TDE4|Q8TDE5	Silent	SNP	ENST00000309241.5	37	c.939C>G	CCDS4298.1																																																																																				0.627	PPARGC1B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252334.1	NM_133263		8	73	0	0	0	1	0	8	73				
KDM2A	22992	broad.mit.edu	37	11	66985327	66985327	+	Silent	SNP	G	G	A			TCGA-J9-A8CL-01A-11D-A34U-08	TCGA-J9-A8CL-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1f9f2e-7a09-4e2d-bb99-c881a34a8da2	e5a23b9d-18a0-4cb4-8743-3d53fc3c45b4	g.chr11:66985327G>A	ENST00000529006.2	+	9	1259	c.813G>A	c.(811-813)aaG>aaA	p.K271K	KDM2A_ENST00000398645.2_Silent_p.K271K|KDM2A_ENST00000526258.1_3'UTR	NM_012308.2	NP_036440.1	Q9Y2K7	KDM2A_HUMAN	lysine (K)-specific demethylase 2A	271	JmjC. {ECO:0000255|PROSITE- ProRule:PRU00538}.				histone H3-K36 demethylation (GO:0070544)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nuclear chromatin (GO:0000790)|nucleolus (GO:0005730)|nucleus (GO:0005634)	histone demethylase activity (H3-K36 specific) (GO:0051864)|unmethylated CpG binding (GO:0045322)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|skin(1)|urinary_tract(2)	36						TTGAGCTCAAGCAGGGCTATA	0.458																																						ENST00000529006.2																			0				NS(1)|breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(6)|lung(15)|ovary(5)|skin(1)|urinary_tract(2)	36						c.(811-813)aaG>aaA		lysine (K)-specific demethylase 2A							72.0	67.0	69.0					11																	66985327		1949	4141	6090	SO:0001819	synonymous_variant	22992				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	DNA binding|histone demethylase activity (H3-K36 specific)|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding	g.chr11:66985327G>A	BC047486	CCDS44657.1, CCDS58148.1	11q13.1	2014-02-18	2009-04-06	2009-04-06	ENSG00000173120	ENSG00000173120		"""F-boxes / Leucine-rich repeats"", ""Chromatin-modifying enzymes / K-demethylases"""	13606	protein-coding gene	gene with protein product	"""F-box protein FBL11"", ""jumonji C domain-containing histone demethylase 1A"""	605657	"""F-box and leucine-rich repeat protein 11"""	FBXL11		10231032, 10531037	Standard	NM_012308		Approved	KIAA1004, FBL11, LILINA, DKFZP434M1735, FBL7, FLJ00115, CXXC8, JHDM1A	uc001ojw.3	Q9Y2K7	OTTHUMG00000167103	ENST00000529006.2:c.813G>A	11.37:g.66985327G>A						KDM2A_ENST00000526258.1_3'UTR|KDM2A_ENST00000398645.2_Silent_p.K271K	p.K271K	NM_012308.2	NP_036440.1	Q9Y2K7	KDM2A_HUMAN			9	1259	+			271			JmjC.		D4QA03|E9PIL6|I3VM55|Q49A21|Q4G0M3|Q69YY8|Q9BVH5|Q9H7H5|Q9UK66	Silent	SNP	ENST00000529006.2	37	c.813G>A	CCDS44657.1																																																																																				0.458	KDM2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393140.2	NM_012308		5	50	0	0	0	1	0	5	50				
CD1C	911	broad.mit.edu	37	1	158262542	158262542	+	Missense_Mutation	SNP	C	C	T			TCGA-J9-A8CL-01A-11D-A34U-08	TCGA-J9-A8CL-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1f9f2e-7a09-4e2d-bb99-c881a34a8da2	e5a23b9d-18a0-4cb4-8743-3d53fc3c45b4	g.chr1:158262542C>T	ENST00000368170.3	+	4	1046	c.767C>T	c.(766-768)cCt>cTt	p.P256L		NM_001765.2	NP_001756.2	P29017	CD1C_HUMAN	CD1c molecule	256	Ig-like.				antigen processing and presentation (GO:0019882)|T cell activation involved in immune response (GO:0002286)	endosome (GO:0005768)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	endogenous lipid antigen binding (GO:0030883)|exogenous lipid antigen binding (GO:0030884)|glycolipid binding (GO:0051861)|lipopeptide binding (GO:0071723)			NS(1)|endometrium(3)|large_intestine(4)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	39	all_hematologic(112;0.0378)					GATATTCTTCCTAATGCTGAT	0.527																																						ENST00000368170.3																			0				NS(1)|endometrium(3)|large_intestine(4)|lung(21)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(1)	39						c.(766-768)cCt>cTt		CD1c molecule							139.0	136.0	137.0					1																	158262542		2203	4300	6503	SO:0001583	missense	911				antigen processing and presentation|T cell activation involved in immune response	endosome membrane|integral to plasma membrane	endogenous lipid antigen binding|exogenous lipid antigen binding|glycolipid binding|lipopeptide binding	g.chr1:158262542C>T	M28827	CCDS1175.1	1q23.1	2014-01-14	2006-03-28		ENSG00000158481	ENSG00000158481		"""CD molecules"", ""Immunoglobulin superfamily / C1-set domain containing"""	1636	protein-coding gene	gene with protein product		188340	"""CD1C antigen, c polypeptide"", ""CD1c antigen"""	CD1		2447586	Standard	NM_001765		Approved		uc001fru.3	P29017	OTTHUMG00000017514	ENST00000368170.3:c.767C>T	1.37:g.158262542C>T	ENSP00000357152:p.Pro256Leu						p.P256L	NM_001765.2	NP_001756.2	P29017	CD1C_HUMAN			4	1046	+	all_hematologic(112;0.0378)		256			Ig-like.		Q5TDJ7|Q6IAS4|Q9UMM0|Q9UN96	Missense_Mutation	SNP	ENST00000368170.3	37	c.767C>T	CCDS1175.1	.	.	.	.	.	.	.	.	.	.	-	15.08	2.727617	0.48833	.	.	ENSG00000158481	ENST00000368169;ENST00000368170;ENST00000454192	T	0.17528	2.27	3.62	3.62	0.41486	Immunoglobulin-like (1);MHC class I-like antigen recognition (1);Immunoglobulin C1-set (2);	0.201103	0.25073	N	0.033342	T	0.40956	0.1138	H	0.95151	3.63	0.09310	N	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.985;0.996	T	0.37888	-0.9686	10	0.87932	D	0	.	11.0251	0.47741	0.0:1.0:0.0:0.0	.	256;256	E9PGC9;P29017	.;CD1C_HUMAN	L	256;256;59	ENSP00000357152:P256L	ENSP00000357151:P256L	P	+	2	0	CD1C	156529166	0.014000	0.17966	0.011000	0.14972	0.027000	0.11550	1.827000	0.39102	2.030000	0.59900	0.650000	0.86243	CCT		0.527	CD1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046351.2	NM_001765		25	57	0	0	0	1	0	25	57				
KMT2C	58508	broad.mit.edu	37	7	151855999	151855999	+	Silent	SNP	C	C	T			TCGA-J9-A8CL-01A-11D-A34U-08	TCGA-J9-A8CL-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1f9f2e-7a09-4e2d-bb99-c881a34a8da2	e5a23b9d-18a0-4cb4-8743-3d53fc3c45b4	g.chr7:151855999C>T	ENST00000262189.6	-	44	11837	c.11619G>A	c.(11617-11619)gaG>gaA	p.E3873E	KMT2C_ENST00000355193.2_Silent_p.E3873E	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	3873					histone H3-K4 methylation (GO:0051568)|intracellular signal transduction (GO:0035556)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)										CTTGTTTCTCCTCTTCGTCCT	0.458																																						ENST00000355193.2																			0											c.(11617-11619)gaG>gaA		lysine (K)-specific methyltransferase 2C							399.0	363.0	375.0					7																	151855999		2203	4300	6503	SO:0001819	synonymous_variant	58508							g.chr7:151855999C>T	AF264750	CCDS5931.1	7q36	2013-05-09	2013-05-09	2013-05-09	ENSG00000055609	ENSG00000055609		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	13726	protein-coding gene	gene with protein product		606833	"""myeloid/lymphoid or mixed-lineage leukemia 3"""	MLL3		10819331	Standard	XM_005250026		Approved	KIAA1506, HALR		Q8NEZ4	OTTHUMG00000150553	ENST00000262189.6:c.11619G>A	7.37:g.151855999C>T						KMT2C_ENST00000262189.6_Silent_p.E3873E	p.E3873E							44	11837	-								Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Silent	SNP	ENST00000262189.6	37	c.11619G>A	CCDS5931.1	.	.	.	.	.	.	.	.	.	.	C	8.879	0.951098	0.18431	.	.	ENSG00000055609	ENST00000360104	.	.	.	5.56	4.68	0.58851	.	.	.	.	.	T	0.63058	0.2479	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.61667	-0.7016	4	.	.	.	.	11.4822	0.50333	0.0:0.8438:0.0:0.1562	.	.	.	.	R	1379	.	.	G	-	1	0	MLL3	151486932	0.380000	0.25131	1.000000	0.80357	0.951000	0.60555	-0.585000	0.05794	1.495000	0.48549	-0.229000	0.12294	GGA		0.458	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3			55	227	0	0	0	1	0	55	227				
DOCK11	139818	broad.mit.edu	37	X	117742298	117742298	+	Silent	SNP	A	A	G			TCGA-J9-A8CL-01A-11D-A34U-08	TCGA-J9-A8CL-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1f9f2e-7a09-4e2d-bb99-c881a34a8da2	e5a23b9d-18a0-4cb4-8743-3d53fc3c45b4	g.chrX:117742298A>G	ENST00000276202.7	+	26	2919	c.2856A>G	c.(2854-2856)ttA>ttG	p.L952L	DOCK11_ENST00000276204.6_Silent_p.L952L	NM_144658.3	NP_653259.3	Q5JSL3	DOC11_HUMAN	dedicator of cytokinesis 11	952					blood coagulation (GO:0007596)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(4)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(17)|liver(1)|lung(35)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	84						CAGATTTTTTATCAATAAACA	0.418																																						ENST00000276204.6																			0				breast(4)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(17)|liver(1)|lung(35)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	84						c.(2854-2856)ttA>ttG		dedicator of cytokinesis 11							66.0	66.0	66.0					X																	117742298		2203	4300	6503	SO:0001819	synonymous_variant	139818				blood coagulation	cytosol	GTP binding	g.chrX:117742298A>G	AK125641	CCDS35373.1	Xq24	2013-10-25			ENSG00000147251	ENSG00000147251		"""Pleckstrin homology (PH) domain containing"""	23483	protein-coding gene	gene with protein product	"""zizimin2"""	300681				12432077, 16968698	Standard	NM_144658		Approved	FLJ32122, FLJ43653, ZIZ2, ACG	uc004eqp.2	Q5JSL3	OTTHUMG00000022256	ENST00000276202.7:c.2856A>G	X.37:g.117742298A>G						DOCK11_ENST00000276202.7_Silent_p.L952L	p.L952L			Q5JSL3	DOC11_HUMAN			26	2930	+			952					A6NMF0|Q66M66|Q6ZUJ5|Q86VU8|Q96MN3	Silent	SNP	ENST00000276202.7	37	c.2856A>G	CCDS35373.1																																																																																				0.418	DOCK11-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000356002.1	NM_144658		27	99	0	0	0	1	0	27	99				
VAV3	10451	broad.mit.edu	37	1	108231002	108231002	+	Splice_Site	SNP	C	C	T			TCGA-J9-A8CL-01A-11D-A34U-08	TCGA-J9-A8CL-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1f9f2e-7a09-4e2d-bb99-c881a34a8da2	e5a23b9d-18a0-4cb4-8743-3d53fc3c45b4	g.chr1:108231002C>T	ENST00000370056.4	-	18	2006		c.e18+1		VAV3_ENST00000527011.1_Splice_Site|VAV3_ENST00000343258.4_Splice_Site|VAV3_ENST00000415432.2_Splice_Site|VAV3_ENST00000371846.4_Splice_Site|VAV3_ENST00000544443.1_Splice_Site	NM_006113.4	NP_006104.4	Q9UKW4	VAV3_HUMAN	vav 3 guanine nucleotide exchange factor						angiogenesis (GO:0001525)|apoptotic signaling pathway (GO:0097190)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|cellular response to DNA damage stimulus (GO:0006974)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|lamellipodium assembly (GO:0030032)|neurotrophin TRK receptor signaling pathway (GO:0048011)|neutrophil chemotaxis (GO:0030593)|platelet activation (GO:0030168)|positive regulation of apoptotic process (GO:0043065)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cell adhesion (GO:0045785)|positive regulation of GTPase activity (GO:0043547)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of signal transduction (GO:0009967)|regulation of Rac GTPase activity (GO:0032314)|regulation of small GTPase mediated signal transduction (GO:0051056)|response to drug (GO:0042493)|small GTPase mediated signal transduction (GO:0007264)|vesicle fusion (GO:0006906)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)|metal ion binding (GO:0046872)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|SH3/SH2 adaptor activity (GO:0005070)			NS(2)|breast(5)|endometrium(4)|kidney(2)|large_intestine(14)|lung(20)|ovary(6)|prostate(3)|stomach(1)|urinary_tract(1)	58		all_epithelial(167;5.38e-05)|all_lung(203;0.000314)|Lung NSC(277;0.000594)		Colorectal(144;0.0331)|Lung(183;0.128)|Epithelial(280;0.204)		GTTAATCTTACCTCTGGTAGT	0.328																																						ENST00000370056.4																			0				NS(2)|breast(5)|endometrium(4)|kidney(2)|large_intestine(14)|lung(20)|ovary(6)|prostate(3)|stomach(1)|urinary_tract(1)	58						c.e18+1		vav 3 guanine nucleotide exchange factor							123.0	116.0	118.0					1																	108231002		2202	4298	6500	SO:0001630	splice_region_variant	10451				angiogenesis|apoptosis|B cell receptor signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of B cell proliferation|regulation of Rho protein signal transduction|response to DNA damage stimulus|response to drug|small GTPase mediated signal transduction	cytosol	GTPase activator activity|metal ion binding|SH3/SH2 adaptor activity	g.chr1:108231002C>T	AF118886	CCDS785.1, CCDS44181.1	1p13.3	2013-02-14	2007-07-25		ENSG00000134215	ENSG00000134215		"""Rho guanine nucleotide exchange factors"", ""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	12659	protein-coding gene	gene with protein product		605541	"""vav 3 oncogene"""				Standard	NM_001079874		Approved		uc001dvk.1	Q9UKW4	OTTHUMG00000010995	ENST00000370056.4:c.1731+1G>A	1.37:g.108231002C>T						VAV3_ENST00000544443.1_Splice_Site|VAV3_ENST00000527011.1_Splice_Site|VAV3_ENST00000343258.4_Splice_Site|VAV3_ENST00000415432.2_Splice_Site|VAV3_ENST00000371846.4_Splice_Site		NM_006113.4	NP_006104.4	Q9UKW4	VAV3_HUMAN		Colorectal(144;0.0331)|Lung(183;0.128)|Epithelial(280;0.204)	18	2006	-		all_epithelial(167;5.38e-05)|all_lung(203;0.000314)|Lung NSC(277;0.000594)						B1AMM0|B1APV5|B4E232|B7ZLR1|E9PQ97|O60498|O95230|Q9Y5X8	Splice_Site	SNP	ENST00000370056.4	37		CCDS785.1	.	.	.	.	.	.	.	.	.	.	C	14.71	2.616187	0.46631	.	.	ENSG00000134215	ENST00000370056;ENST00000527011;ENST00000415432;ENST00000490388;ENST00000371846	.	.	.	5.83	5.83	0.93111	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.8525	0.85998	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	VAV3	108032525	1.000000	0.71417	1.000000	0.80357	0.611000	0.37282	4.412000	0.59787	2.747000	0.94245	0.585000	0.79938	.		0.328	VAV3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030242.2	NM_006113	Intron	14	28	0	0	0	1	0	14	28				
THEMIS	387357	broad.mit.edu	37	6	128134112	128134112	+	Silent	SNP	C	C	T			TCGA-J9-A8CL-01A-11D-A34U-08	TCGA-J9-A8CL-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1f9f2e-7a09-4e2d-bb99-c881a34a8da2	e5a23b9d-18a0-4cb4-8743-3d53fc3c45b4	g.chr6:128134112C>T	ENST00000368248.2	-	4	1822	c.1674G>A	c.(1672-1674)ccG>ccA	p.P558P	THEMIS_ENST00000543064.1_Silent_p.P558P|THEMIS_ENST00000368250.1_Silent_p.P479P|THEMIS_ENST00000537166.1_Silent_p.P523P	NM_001010923.2	NP_001010923.1	Q8N1K5	THMS1_HUMAN	thymocyte selection associated	558					negative T cell selection (GO:0043383)|positive T cell selection (GO:0043368)|T cell receptor signaling pathway (GO:0050852)	cell-cell junction (GO:0005911)|COP9 signalosome (GO:0008180)|cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(3)	60						AGGGGTGTTTCGGAGGGCGAG	0.483																																						ENST00000368250.1																			0				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(10)|liver(1)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|urinary_tract(3)	60						c.(1435-1437)ccG>ccA		thymocyte selection associated							116.0	119.0	118.0					6																	128134112		2203	4300	6503	SO:0001819	synonymous_variant	387357				negative T cell selection|positive T cell selection|T cell receptor signaling pathway	cytoplasm|nucleus		g.chr6:128134112C>T	AK094863	CCDS34534.1, CCDS55055.1	6q22.33	2012-02-08	2009-06-25	2009-06-25	ENSG00000172673	ENSG00000172673			21569	protein-coding gene	gene with protein product	"""thymocyte expressed molecule involved in selection"""	613607	"""chromosome 6 open reading frame 207"", ""chromosome 6 open reading frame 190"", ""thymocyte selection pathway associated"""	C6orf207, C6orf190, TSEPA		19597499, 19597498, 19597497	Standard	NM_001010923		Approved	bA325O24.4, FLJ40584, bA325O24.3	uc011ebt.2	Q8N1K5	OTTHUMG00000015534	ENST00000368248.2:c.1674G>A	6.37:g.128134112C>T						THEMIS_ENST00000368248.2_Silent_p.P558P|THEMIS_ENST00000543064.1_Silent_p.P558P|THEMIS_ENST00000537166.1_Silent_p.P523P	p.P479P			Q8N1K5	THMS1_HUMAN			5	1935	-			558			CABIT 2.		A1L4F0|A8K7N1|B3KT31|B3KW32|B3KY07|F5H1J9|Q5T3C4|Q5T3C5|Q6MZT7	Silent	SNP	ENST00000368248.2	37	c.1437G>A	CCDS34534.1																																																																																				0.483	THEMIS-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding		NM_001010923		37	71	0	0	0	1	0	37	71				
ITGAD	3681	broad.mit.edu	37	16	31409184	31409184	+	Silent	SNP	G	G	T			TCGA-J9-A8CL-01A-11D-A34U-08	TCGA-J9-A8CL-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1f9f2e-7a09-4e2d-bb99-c881a34a8da2	e5a23b9d-18a0-4cb4-8743-3d53fc3c45b4	g.chr16:31409184G>T	ENST00000389202.2	+	5	430	c.381G>T	c.(379-381)ctG>ctT	p.L127L		NM_005353.2	NP_005344.2	Q13349	ITAD_HUMAN	integrin, alpha D	127					activated T cell proliferation (GO:0050798)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|immune response (GO:0006955)|integrin-mediated signaling pathway (GO:0007229)	cell surface (GO:0009986)|integrin complex (GO:0008305)|plasma membrane (GO:0005886)	metal ion binding (GO:0046872)	p.G128C(1)		breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(43)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						GCCTCCTGCTGGGCTCGCGCT	0.642																																						ENST00000389202.2																			1	Substitution - Missense(1)	p.G128C(1)	lung(1)	breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|liver(2)|lung(43)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						c.(379-381)ctG>ctT		integrin, alpha D							41.0	36.0	38.0					16																	31409184		2197	4300	6497	SO:0001819	synonymous_variant	3681				cell-cell adhesion|cell-matrix adhesion|immune response|integrin-mediated signaling pathway	integrin complex	receptor activity	g.chr16:31409184G>T	U40274	CCDS32438.1	16p13.1-p11	2010-03-23				ENSG00000156886		"""CD molecules"", ""Integrins"""	6146	protein-coding gene	gene with protein product		602453				8666289, 9598326	Standard	NM_005353		Approved	CD11d, ADB2	uc002ebv.1	Q13349		ENST00000389202.2:c.381G>T	16.37:g.31409184G>T							p.L127L	NM_005353.2	NP_005344.2	Q13349	ITAD_HUMAN			5	430	+			127					Q15575|Q15576	Silent	SNP	ENST00000389202.2	37	c.381G>T	CCDS32438.1	.	.	.	.	.	.	.	.	.	.	G	10.53	1.376801	0.24857	.	.	ENSG00000156886	ENST00000316569	.	.	.	3.93	2.95	0.34219	.	.	.	.	.	T	0.48241	0.1489	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.22800	-1.0206	5	0.11794	T	0.64	.	11.6388	0.51220	0.0:0.1807:0.8192:0.0	.	.	.	.	L	35	.	ENSP00000323325:W35L	W	+	2	0	ITGAD	31316685	0.972000	0.33761	0.186000	0.23195	0.586000	0.36452	0.683000	0.25349	0.944000	0.37579	0.655000	0.94253	TGG		0.642	ITGAD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432836.1	NM_005353		5	17	1	0	0.184627	1	0.188823	5	17				
ASTE1	28990	broad.mit.edu	37	3	130743334	130743334	+	Silent	SNP	G	G	A			TCGA-J9-A8CL-01A-11D-A34U-08	TCGA-J9-A8CL-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1f9f2e-7a09-4e2d-bb99-c881a34a8da2	e5a23b9d-18a0-4cb4-8743-3d53fc3c45b4	g.chr3:130743334G>A	ENST00000264992.3	-	3	1258	c.817C>T	c.(817-819)Cta>Tta	p.L273L	NEK11_ENST00000383366.4_5'Flank|ASTE1_ENST00000514044.1_Silent_p.L273L|NEK11_ENST00000511262.1_5'Flank|NEK11_ENST00000510688.1_5'Flank|NEK11_ENST00000412440.2_5'Flank|NEK11_ENST00000356918.4_5'Flank|NEK11_ENST00000510769.1_5'Flank|NEK11_ENST00000429253.2_5'Flank	NM_014065.2	NP_054784.2	Q2TB18	ASTE1_HUMAN	asteroid homolog 1 (Drosophila)	273					DNA repair (GO:0006281)		nuclease activity (GO:0004518)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)	22						ACATTATCTAGTGCTTCGGTA	0.458																																						ENST00000264992.3																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(6)|ovary(2)|prostate(1)	22						c.(817-819)Cta>Tta		asteroid homolog 1 (Drosophila)							92.0	88.0	90.0					3																	130743334		2203	4300	6503	SO:0001819	synonymous_variant	28990				DNA repair		nuclease activity	g.chr3:130743334G>A	AF113539	CCDS3068.1, CCDS75007.1	3q21.3	2005-11-17			ENSG00000034533	ENSG00000034533			25021	protein-coding gene	gene with protein product							Standard	NM_014065		Approved	HT001	uc003env.1	Q2TB18	OTTHUMG00000159644	ENST00000264992.3:c.817C>T	3.37:g.130743334G>A						ASTE1_ENST00000514044.1_Silent_p.L273L	p.L273L	NM_014065.2	NP_054784.2	Q2TB18	ASTE1_HUMAN			3	1258	-			273					B4DFL9|Q3MIB6|Q8N6G4|Q96JY1|Q9UHX6	Silent	SNP	ENST00000264992.3	37	c.817C>T	CCDS3068.1																																																																																				0.458	ASTE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356659.1	NM_014065		20	49	0	0	0	1	0	20	49				
PKNOX2	63876	broad.mit.edu	37	11	125255503	125255503	+	Missense_Mutation	SNP	A	A	T			TCGA-J9-A8CL-01A-11D-A34U-08	TCGA-J9-A8CL-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1f9f2e-7a09-4e2d-bb99-c881a34a8da2	e5a23b9d-18a0-4cb4-8743-3d53fc3c45b4	g.chr11:125255503A>T	ENST00000298282.9	+	6	555	c.284A>T	c.(283-285)cAg>cTg	p.Q95L	PKNOX2_ENST00000530517.1_3'UTR|PKNOX2_ENST00000542175.1_Missense_Mutation_p.Q31L	NM_022062.2	NP_071345.2	Q96KN3	PKNX2_HUMAN	PBX/knotted 1 homeobox 2	95					regulation of transcription from RNA polymerase II promoter (GO:0006357)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|microtubule cytoskeleton (GO:0015630)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)			endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(14)|ovary(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	29		Breast(109;0.00234)|all_lung(97;0.0191)|Lung NSC(97;0.0196)|Medulloblastoma(222;0.0447)|all_neural(223;0.116)		BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.117)		CAGGCCACCCAGGGCTCTGAG	0.557																																						ENST00000298282.9																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(4)|lung(14)|ovary(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	29						c.(283-285)cAg>cTg		PBX/knotted 1 homeobox 2							122.0	123.0	123.0					11																	125255503		2074	4229	6303	SO:0001583	missense	63876					nucleus	sequence-specific DNA binding transcription factor activity	g.chr11:125255503A>T	AK023136	CCDS41730.1	11q24.2	2014-09-04			ENSG00000165495	ENSG00000165495		"""Homeoboxes / TALE class"""	16714	protein-coding gene	gene with protein product		613066				11549286	Standard	NM_022062		Approved		uc001qbu.3	Q96KN3	OTTHUMG00000165884	ENST00000298282.9:c.284A>T	11.37:g.125255503A>T	ENSP00000298282:p.Gln95Leu					PKNOX2_ENST00000530517.1_3'UTR|PKNOX2_ENST00000542175.1_Missense_Mutation_p.Q31L	p.Q95L	NM_022062.2	NP_071345.2	Q96KN3	PKNX2_HUMAN		BRCA - Breast invasive adenocarcinoma(274;5.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.117)	6	555	+		Breast(109;0.00234)|all_lung(97;0.0191)|Lung NSC(97;0.0196)|Medulloblastoma(222;0.0447)|all_neural(223;0.116)	95					B7Z5I5|F5GZ15|Q63HL6|Q86XD1	Missense_Mutation	SNP	ENST00000298282.9	37	c.284A>T	CCDS41730.1	.	.	.	.	.	.	.	.	.	.	A	12.91	2.080776	0.36758	.	.	ENSG00000165495	ENST00000530517;ENST00000531116;ENST00000298282;ENST00000542175;ENST00000535518	T;T;T;T	0.54866	0.55;0.55;0.55;0.55	5.51	5.51	0.81932	.	0.116254	0.64402	D	0.000009	T	0.55016	0.1894	L	0.38953	1.18	0.80722	D	1	B;D	0.59357	0.021;0.985	B;P	0.52343	0.08;0.696	T	0.55036	-0.8203	10	0.42905	T	0.14	-11.4378	15.6245	0.76845	1.0:0.0:0.0:0.0	.	31;95	F5GZ15;Q96KN3	.;PKNX2_HUMAN	L	66;66;95;31;83	ENSP00000434732:Q66L;ENSP00000433971:Q66L;ENSP00000298282:Q95L;ENSP00000441470:Q31L	ENSP00000298282:Q95L	Q	+	2	0	PKNOX2	124760713	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.378000	0.52432	2.093000	0.63338	0.533000	0.62120	CAG		0.557	PKNOX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386866.3			22	51	0	0	0	1	0	22	51				
PIK3CA	5290	broad.mit.edu	37	3	178928235	178928235	+	Missense_Mutation	SNP	A	A	C			TCGA-J9-A8CL-01A-11D-A34U-08	TCGA-J9-A8CL-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1f9f2e-7a09-4e2d-bb99-c881a34a8da2	e5a23b9d-18a0-4cb4-8743-3d53fc3c45b4	g.chr3:178928235A>C	ENST00000263967.3	+	9	1578	c.1421A>C	c.(1420-1422)gAg>gCg	p.E474A		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	474	C2 PI3K-type. {ECO:0000255|PROSITE- ProRule:PRU00880}.				angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)			NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	CCATGCTTAGAGTTGGAGTTT	0.373		57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)	ENST00000263967.3		57		Dom	yes		3	3q26.3	5290	Mis	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			"""E, O"""			"""colorectal, gastric, gliobastoma, breast"""		0				NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269						c.(1420-1422)gAg>gCg		phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha							108.0	100.0	103.0					3																	178928235		1853	4100	5953	SO:0001583	missense	5290				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|platelet activation|T cell costimulation|T cell receptor signaling pathway		1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity	g.chr3:178928235A>C		CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.1421A>C	3.37:g.178928235A>C	ENSP00000263967:p.Glu474Ala	HNSCC(19;0.045)|TSP Lung(28;0.18)					p.E474A	NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		9	1578	+	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		474			C2 PI3K-type.		Q14CW1|Q99762	Missense_Mutation	SNP	ENST00000263967.3	37	c.1421A>C	CCDS43171.1	.	.	.	.	.	.	.	.	.	.	A	22.5	4.296325	0.81025	.	.	ENSG00000121879	ENST00000263967	T	0.77098	-1.07	5.64	5.64	0.86602	C2 calcium/lipid-binding domain, CaLB (1);Phosphoinositide 3-kinase, C2 (1);	0.154150	0.56097	D	0.000021	T	0.75199	0.3817	L	0.41710	1.295	0.80722	D	1	D	0.53619	0.961	P	0.50970	0.655	T	0.71388	-0.4608	10	0.07813	T	0.8	-7.9431	15.8545	0.78965	1.0:0.0:0.0:0.0	.	474	P42336	PK3CA_HUMAN	A	474	ENSP00000263967:E474A	ENSP00000263967:E474A	E	+	2	0	PIK3CA	180410929	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.935000	0.92923	2.160000	0.67779	0.533000	0.62120	GAG		0.373	PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000348409.2			37	53	0	0	0	1	0	37	53				
ADAM20	8748	broad.mit.edu	37	14	70989610	70989610	+	Missense_Mutation	SNP	C	C	T	rs529674678		TCGA-J9-A8CL-01A-11D-A34U-08	TCGA-J9-A8CL-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1f9f2e-7a09-4e2d-bb99-c881a34a8da2	e5a23b9d-18a0-4cb4-8743-3d53fc3c45b4	g.chr14:70989610C>T	ENST00000256389.3	-	2	2259	c.2015G>A	c.(2014-2016)cGt>cAt	p.R672H	RP11-486O13.4_ENST00000556646.1_lincRNA	NM_003814.4	NP_003805.3	O43506	ADA20_HUMAN	ADAM metallopeptidase domain 20	622					binding of sperm to zona pellucida (GO:0007339)|multicellular organism reproduction (GO:0032504)|single fertilization (GO:0007338)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|prostate(1)|skin(2)	27			KIRC - Kidney renal clear cell carcinoma(12;0.133)|Kidney(31;0.188)	all cancers(60;0.00294)|BRCA - Breast invasive adenocarcinoma(234;0.00668)|OV - Ovarian serous cystadenocarcinoma(108;0.0344)		ACACTTCTTACGGATGCAGAT	0.468													C|||	1	0.000199681	0.0008	0.0	5008	,	,		23350	0.0		0.0	False		,,,				2504	0.0					ENST00000256389.3																			0				autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(15)|prostate(1)|skin(2)	27						c.(2014-2016)cGt>cAt		ADAM metallopeptidase domain 20							452.0	340.0	378.0					14																	70989610		2203	4300	6503	SO:0001583	missense	8748				proteolysis|single fertilization	integral to membrane	metalloendopeptidase activity|zinc ion binding	g.chr14:70989610C>T	AF029899	CCDS32111.1	14q24.2	2012-04-30	2005-08-18		ENSG00000134007	ENSG00000134007		"""ADAM metallopeptidase domain containing"""	199	protein-coding gene	gene with protein product		603712	"""a disintegrin and metalloproteinase domain 20"""			9469942	Standard	NM_003814		Approved		uc001xme.3	O43506	OTTHUMG00000167548	ENST00000256389.3:c.2015G>A	14.37:g.70989610C>T	ENSP00000256389:p.Arg672His					RP11-486O13.4_ENST00000556646.1_lincRNA	p.R672H	NM_003814.4	NP_003805.3	O43506	ADA20_HUMAN	KIRC - Kidney renal clear cell carcinoma(12;0.133)|Kidney(31;0.188)	all cancers(60;0.00294)|BRCA - Breast invasive adenocarcinoma(234;0.00668)|OV - Ovarian serous cystadenocarcinoma(108;0.0344)	2	2259	-			622					Q6GTZ1|Q9UKJ9	Missense_Mutation	SNP	ENST00000256389.3	37	c.2015G>A	CCDS32111.1	.	.	.	.	.	.	.	.	.	.	C	0.356	-0.942240	0.02322	.	.	ENSG00000134007	ENST00000256389	T	0.00902	5.56	4.67	-4.58	0.03410	ADAM, cysteine-rich (1);	1.596060	0.04222	N	0.333740	T	0.00666	0.0022	N	0.10945	0.07	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.49273	-0.8957	10	0.05620	T	0.96	.	12.3931	0.55370	0.0:0.5058:0.0:0.4942	.	622	O43506	ADA20_HUMAN	H	672	ENSP00000256389:R672H	ENSP00000256389:R672H	R	-	2	0	ADAM20	70059363	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.501000	0.06398	-1.144000	0.02862	-0.471000	0.05019	CGT		0.468	ADAM20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395004.2			73	150	0	0	0	1	0	73	150				
COG1	9382	broad.mit.edu	37	17	71189377	71189377	+	Missense_Mutation	SNP	C	C	T			TCGA-J9-A8CL-01A-11D-A34U-08	TCGA-J9-A8CL-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1f9f2e-7a09-4e2d-bb99-c881a34a8da2	e5a23b9d-18a0-4cb4-8743-3d53fc3c45b4	g.chr17:71189377C>T	ENST00000299886.4	+	1	249	c.169C>T	c.(169-171)Cgc>Tgc	p.R57C	RP11-143K11.5_ENST00000580671.1_RNA	NM_018714.2	NP_061184.1	Q8WTW3	COG1_HUMAN	component of oligomeric golgi complex 1	57					Golgi organization (GO:0007030)|intra-Golgi vesicle-mediated transport (GO:0006891)|protein transport (GO:0015031)	Golgi apparatus (GO:0005794)|Golgi transport complex (GO:0017119)|membrane (GO:0016020)				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18			LUSC - Lung squamous cell carcinoma(166;0.197)			CGAACGGTACCGCGACCTGAT	0.697																																						ENST00000299886.4																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(3)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18						c.(169-171)Cgc>Tgc		component of oligomeric golgi complex 1							29.0	29.0	29.0					17																	71189377		2194	4293	6487	SO:0001583	missense	9382				Golgi organization|intra-Golgi vesicle-mediated transport|protein transport	Golgi membrane|Golgi transport complex	protein binding	g.chr17:71189377C>T		CCDS11692.1	17q25.1	2008-05-14	2002-05-28	2002-05-31		ENSG00000166685		"""Components of oligomeric golgi complex"""	6545	protein-coding gene	gene with protein product		606973	"""low density lipoprotein receptor defect B complementing"""	LDLB		9927668	Standard	NM_018714		Approved	KIAA1381	uc002jjg.3	Q8WTW3		ENST00000299886.4:c.169C>T	17.37:g.71189377C>T	ENSP00000299886:p.Arg57Cys					RP11-143K11.5_ENST00000580671.1_RNA	p.R57C	NM_018714.2	NP_061184.1	Q8WTW3	COG1_HUMAN	LUSC - Lung squamous cell carcinoma(166;0.197)		1	249	+			57					Q9NPV9|Q9P2G6	Missense_Mutation	SNP	ENST00000299886.4	37	c.169C>T	CCDS11692.1	.	.	.	.	.	.	.	.	.	.	C	17.79	3.476115	0.63737	.	.	ENSG00000166685	ENST00000438720;ENST00000299886	T;T	0.59364	0.27;0.31	3.74	3.74	0.42951	.	0.000000	0.85682	D	0.000000	T	0.79364	0.4433	M	0.88775	2.98	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.84942	0.0866	10	0.87932	D	0	-18.6452	16.0763	0.80971	0.0:1.0:0.0:0.0	.	57;57;57	E9PBL8;Q8WTW3;Q4G0L8	.;COG1_HUMAN;.	C	57	ENSP00000400111:R57C;ENSP00000299886:R57C	ENSP00000299886:R57C	R	+	1	0	COG1	68700972	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	6.805000	0.75191	2.075000	0.62263	0.484000	0.47621	CGC		0.697	COG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441638.1			3	14	0	0	0	1	0	3	14				
CARD9	64170	broad.mit.edu	37	9	139265071	139265071	+	Missense_Mutation	SNP	G	G	C			TCGA-J9-A8CL-01A-11D-A34U-08	TCGA-J9-A8CL-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1f9f2e-7a09-4e2d-bb99-c881a34a8da2	e5a23b9d-18a0-4cb4-8743-3d53fc3c45b4	g.chr9:139265071G>C	ENST00000371732.5	-	5	875	c.710C>G	c.(709-711)gCc>gGc	p.A237G	CARD9_ENST00000371734.3_Missense_Mutation_p.A237G|CARD9_ENST00000315908.7_Missense_Mutation_p.A237G|CARD9_ENST00000460290.1_5'Flank	NM_052813.4	NP_434700.2	Q9H257	CARD9_HUMAN	caspase recruitment domain family, member 9	237					defense response to Gram-positive bacterium (GO:0050830)|defense response to virus (GO:0051607)|innate immune response (GO:0045087)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of JNK cascade (GO:0046330)|positive regulation of stress-activated MAPK cascade (GO:0032874)|positive regulation of tumor necrosis factor production (GO:0032760)|regulation of apoptotic process (GO:0042981)|regulation of interleukin-2 biosynthetic process (GO:0045076)|regulation of interleukin-6 biosynthetic process (GO:0045408)|regulation of tumor necrosis factor biosynthetic process (GO:0042534)|response to drug (GO:0042493)|response to exogenous dsRNA (GO:0043330)|response to fungus (GO:0009620)|response to muramyl dipeptide (GO:0032495)|response to peptidoglycan (GO:0032494)	cytoplasm (GO:0005737)	CARD domain binding (GO:0050700)|protein homodimerization activity (GO:0042803)			endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|pancreas(1)|prostate(3)|skin(1)	15		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;4.58e-06)|Epithelial(140;5.65e-06)		CTGCTCCATGGCGTGCCTGAG	0.652																																						ENST00000371732.5																			0				endometrium(2)|kidney(2)|large_intestine(3)|lung(3)|pancreas(1)|prostate(3)|skin(1)	15						c.(709-711)gCc>gGc		caspase recruitment domain family, member 9							62.0	48.0	53.0					9																	139265071		2200	4299	6499	SO:0001583	missense	64170				positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of JNK cascade|positive regulation of stress-activated MAPK cascade|regulation of apoptosis	cytoplasm	CARD domain binding|protein homodimerization activity	g.chr9:139265071G>C	AF311287	CCDS6997.1, CCDS48057.1	9q34	2014-09-17			ENSG00000187796	ENSG00000187796			16391	protein-coding gene	gene with protein product		607212				11053425	Standard	NM_052813		Approved		uc004chg.3	Q9H257	OTTHUMG00000020925	ENST00000371732.5:c.710C>G	9.37:g.139265071G>C	ENSP00000360797:p.Ala237Gly					CARD9_ENST00000371734.3_Missense_Mutation_p.A237G|CARD9_ENST00000315908.7_Missense_Mutation_p.A237G	p.A237G	NM_052813.4	NP_434700.2	Q9H257	CARD9_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;4.58e-06)|Epithelial(140;5.65e-06)	5	875	-		Myeloproliferative disorder(178;0.0511)	237					Q5SXM5|Q5SXM6|Q9H854	Missense_Mutation	SNP	ENST00000371732.5	37	c.710C>G	CCDS6997.1	.	.	.	.	.	.	.	.	.	.	G	13.38	2.220625	0.39201	.	.	ENSG00000187796	ENST00000371734;ENST00000371732;ENST00000315908	T;T;T	0.35789	1.29;1.29;1.29	3.4	2.44	0.29823	.	0.155478	0.41097	D	0.000944	T	0.52964	0.1767	M	0.70275	2.135	0.48341	D	0.999639	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.73380	0.98;0.98;0.955	T	0.48681	-0.9014	10	0.27082	T	0.32	-19.0188	10.8687	0.46870	0.0:0.0:0.81:0.19	.	133;237;237	B4DIK5;Q9H257-2;Q9H257	.;.;CARD9_HUMAN	G	237	ENSP00000360799:A237G;ENSP00000360797:A237G;ENSP00000323719:A237G	ENSP00000323719:A237G	A	-	2	0	CARD9	138384892	1.000000	0.71417	0.987000	0.45799	0.866000	0.49608	2.328000	0.43867	0.697000	0.31718	0.467000	0.42956	GCC		0.652	CARD9-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055053.1	NM_052813		7	40	0	0	0	1	0	7	40				
ADAMTS10	81794	broad.mit.edu	37	19	8651510	8651510	+	Nonsense_Mutation	SNP	G	G	A			TCGA-J9-A8CL-01A-11D-A34U-08	TCGA-J9-A8CL-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1f9f2e-7a09-4e2d-bb99-c881a34a8da2	e5a23b9d-18a0-4cb4-8743-3d53fc3c45b4	g.chr19:8651510G>A	ENST00000597188.1	-	20	2605	c.2335C>T	c.(2335-2337)Cga>Tga	p.R779*	ADAMTS10_ENST00000270328.4_Nonsense_Mutation_p.R779*|ADAMTS10_ENST00000595838.1_Nonsense_Mutation_p.R266*	NM_030957.2	NP_112219.3	Q9H324	ATS10_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 10	779	Spacer.					extracellular matrix (GO:0031012)|microfibril (GO:0001527)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)	p.R779*(1)		NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(16)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(3)|skin(10)|urinary_tract(1)	53						GGCCCCTGTCGCAGTTGAAAG	0.642											OREG0025221	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000270328.4																			1	Substitution - Nonsense(1)	p.R779*(1)	large_intestine(1)	NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(16)|large_intestine(5)|lung(9)|ovary(1)|pancreas(2)|prostate(3)|skin(10)|urinary_tract(1)	53						c.(2335-2337)Cga>Tga		ADAM metallopeptidase with thrombospondin type 1 motif, 10							62.0	67.0	65.0					19																	8651510		2203	4300	6503	SO:0001587	stop_gained	81794				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr19:8651510G>A	AF163762	CCDS12206.1, CCDS62529.1	19p13.2	2014-08-12	2005-08-19		ENSG00000142303	ENSG00000142303		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	13201	protein-coding gene	gene with protein product		608990	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 10"""				Standard	XM_005272499		Approved	ADAM-TS10	uc002mkj.1	Q9H324	OTTHUMG00000182216	ENST00000597188.1:c.2335C>T	19.37:g.8651510G>A	ENSP00000471851:p.Arg779*		OREG0025221	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	81	ADAMTS10_ENST00000595838.1_Nonsense_Mutation_p.R266*|ADAMTS10_ENST00000597188.1_Nonsense_Mutation_p.R779*	p.R779*			Q9H324	ATS10_HUMAN			19	2601	-			779			Spacer.		M0QZE4	Nonsense_Mutation	SNP	ENST00000597188.1	37	c.2335C>T	CCDS12206.1	.	.	.	.	.	.	.	.	.	.	G	43	10.365526	0.99392	.	.	ENSG00000142303	ENST00000270328;ENST00000393912	.	.	.	4.92	4.92	0.64577	.	0.070235	0.53938	U	0.000052	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.10636	T	0.68	.	17.1157	0.86688	0.0:0.0:1.0:0.0	.	.	.	.	X	779;533	.	ENSP00000270328:R779X	R	-	1	2	ADAMTS10	8557510	0.999000	0.42202	0.998000	0.56505	0.988000	0.76386	0.952000	0.29149	2.276000	0.75962	0.655000	0.94253	CGA		0.642	ADAMTS10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460085.3	NM_030957		19	55	0	0	0	1	0	19	55				
SUDS3P1	285647	broad.mit.edu	37	5	177398373	177398396	+	RNA	DEL	AGGACGAAGAGCTGGAGAGCGCCA	AGGACGAAGAGCTGGAGAGCGCCA	-	rs548039666|rs70994948|rs71585660|rs568597025|rs535774316	byFrequency	TCGA-J9-A8CL-01A-11D-A34U-08	TCGA-J9-A8CL-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1f9f2e-7a09-4e2d-bb99-c881a34a8da2	e5a23b9d-18a0-4cb4-8743-3d53fc3c45b4	g.chr5:177398373_177398396delAGGACGAAGAGCTGGAGAGCGCCA	ENST00000511650.1	+	0	145																											GTCCCCGGGGAGGACGAAGAGCTGGAGAGCGCCAAGGACGACGA	0.683														1220	0.24361	0.2678	0.3372	5008	,	,		15351	0.1548		0.2674	False		,,,				2504	0.2117					ENST00000511650.1																			0																																																			0							g.chr5:177398373_177398396delAGGACGAAGAGCTGGAGAGCGCCA																													5.37:g.177398373_177398396delAGGACGAAGAGCTGGAGAGCGCCA														0	145	+									RNA	DEL	ENST00000511650.1	37																																																																																						0.683	RP11-1252I4.2-001	KNOWN	basic	antisense	antisense	OTTHUMT00000373553.1			5	3						5	3	---	---	---	---
GALR2	8811	broad.mit.edu	37	17	74073448	74073457	+	Frame_Shift_Del	DEL	GTCCTGGCCC	GTCCTGGCCC	-	rs67693166|rs66906990	byFrequency	TCGA-J9-A8CL-01A-11D-A34U-08	TCGA-J9-A8CL-10A-01D-A34X-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	ca1f9f2e-7a09-4e2d-bb99-c881a34a8da2	e5a23b9d-18a0-4cb4-8743-3d53fc3c45b4	g.chr17:74073448_74073457delGTCCTGGCCC	ENST00000329003.3	+	2	1190_1199	c.1100_1109delGTCCTGGCCC	c.(1099-1110)tgtcctggcccgfs	p.CPGP367fs	ZACN_ENST00000392503.2_5'Flank|ZACN_ENST00000334586.5_5'Flank	NM_003857.2	NP_003848.1	O43603	GALR2_HUMAN	galanin receptor 2	367					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cell surface receptor signaling pathway (GO:0007166)|digestion (GO:0007586)|feeding behavior (GO:0007631)|learning or memory (GO:0007611)|multicellular organismal development (GO:0007275)|muscle contraction (GO:0006936)|negative regulation of adenylate cyclase activity (GO:0007194)|neuron projection development (GO:0031175)|neuropeptide signaling pathway (GO:0007218)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of large conductance calcium-activated potassium channel activity (GO:1902608)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	galanin receptor activity (GO:0004966)|peptide hormone binding (GO:0017046)			cervix(1)|lung(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	8						CTCGAGCCCTGTCCTGGCCCGTCCTGGCAG	0.657														157	0.0313498	0.09	0.0173	5008	,	,		17776	0.0		0.0119	False		,,,				2504	0.0143					ENST00000329003.3																			0				cervix(1)|lung(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	8						c.(1099-1110)tgfs		galanin receptor 2				205,3565		39,127,1719						-4.3	0.0		dbSNP_130	5	75,7411		6,63,3674	no	frameshift	GALR2	NM_003857.2		45,190,5393	A1A1,A1R,RR		1.0019,5.4377,2.4876				280,10976				SO:0001589	frameshift_variant	8811				digestion|elevation of cytosolic calcium ion concentration|feeding behavior|learning or memory|muscle contraction	integral to membrane|plasma membrane	galanin receptor activity	g.chr17:74073448_74073457delGTCCTGGCCC	AF040630	CCDS11739.1	17q25.3	2012-08-08			ENSG00000182687	ENSG00000182687		"""GPCR / Class A : Galanin receptors"""	4133	protein-coding gene	gene with protein product		603691				9685625, 9832121	Standard	NM_003857		Approved	GALNR2	uc002jqm.1	O43603	OTTHUMG00000167479	ENST00000329003.3:c.1100_1109delGTCCTGGCCC	17.37:g.74073448_74073457delGTCCTGGCCC	ENSP00000329684:p.Cys367fs						p.CPGP367fs	NM_003857.2	NP_003848.1	O43603	GALR2_HUMAN			2	1190_1199	+			367					A5JUU4|Q32MN8	Frame_Shift_Del	DEL	ENST00000329003.3	37	c.1100_1109delGTCCTGGCCC	CCDS11739.1																																																																																				0.657	GALR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394760.1			6	2						6	2	---	---	---	---
