#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
MYO9A	4649	broad.mit.edu	37	15	72227722	72227722	+	Missense_Mutation	SNP	T	T	C			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr15:72227722T>C	ENST00000356056.5	-	17	2954	c.2482A>G	c.(2482-2484)Act>Gct	p.T828A	MYO9A_ENST00000563542.1_5'UTR|MYO9A_ENST00000444904.1_Missense_Mutation_p.T809A|MYO9A_ENST00000564571.1_Missense_Mutation_p.T828A|MYO9A_ENST00000566885.1_Missense_Mutation_p.T448A|MYO9A_ENST00000424560.1_Missense_Mutation_p.T828A	NM_006901.3	NP_008832.2	B2RTY4	MYO9A_HUMAN	myosin IXA	828	Myosin motor.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|visual perception (GO:0007601)	cytosol (GO:0005829)|integral component of membrane (GO:0016021)|unconventional myosin complex (GO:0016461)	ATP binding (GO:0005524)|GTPase activator activity (GO:0005096)|metal ion binding (GO:0046872)|motor activity (GO:0003774)			NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						TTGCTGCTAGTTGAATTAGCA	0.383																																						ENST00000356056.5																			0				NS(4)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(29)|lung(27)|ovary(1)|pancreas(1)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	88						c.(2482-2484)Act>Gct		myosin IXA							104.0	105.0	105.0					15																	72227722		2198	4297	6495	SO:0001583	missense	4649				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction|visual perception	cytosol|integral to membrane|unconventional myosin complex	actin binding|ATP binding|GTPase activator activity|metal ion binding|motor activity	g.chr15:72227722T>C	AF117888	CCDS10239.1	15q22-q23	2011-09-27			ENSG00000066933	ENSG00000066933		"""Myosins / Myosin superfamily : Class IX"""	7608	protein-coding gene	gene with protein product		604875				10409426	Standard	NM_006901		Approved	FLJ11061, FLJ13244, MGC71859	uc002atl.5	B2RTY4	OTTHUMG00000133440	ENST00000356056.5:c.2482A>G	15.37:g.72227722T>C	ENSP00000348349:p.Thr828Ala					MYO9A_ENST00000564571.1_Missense_Mutation_p.T828A|MYO9A_ENST00000424560.1_Missense_Mutation_p.T828A|MYO9A_ENST00000563542.1_5'UTR|MYO9A_ENST00000444904.1_Missense_Mutation_p.T809A|MYO9A_ENST00000566885.1_Missense_Mutation_p.T448A	p.T828A	NM_006901.3	NP_008832.2	B2RTY4	MYO9A_HUMAN			17	2954	-			828					B0I1T5|C9IYB3|C9JA86|Q14787|Q3YLD7|Q3YLD8|Q6P986|Q9H8T5|Q9NTG2|Q9NUY2|Q9UEP3|Q9UNJ2	Missense_Mutation	SNP	ENST00000356056.5	37	c.2482A>G	CCDS10239.1	.	.	.	.	.	.	.	.	.	.	T	7.272	0.607400	0.14002	.	.	ENSG00000066933	ENST00000356056;ENST00000424560;ENST00000444904;ENST00000261864	D;D;D	0.84070	-1.8;-1.79;-1.79	4.39	-1.37	0.09056	Myosin head, motor domain (1);	.	.	.	.	T	0.69433	0.3110	L	0.35723	1.085	0.33408	D	0.578319	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.001;0.0;0.001	T	0.59526	-0.7438	9	0.39692	T	0.17	.	3.745	0.08544	0.1859:0.2774:0.0:0.5367	.	809;809;828	B2RTY4-2;B7WP69;B2RTY4	.;.;MYO9A_HUMAN	A	828;828;809;809	ENSP00000348349:T828A;ENSP00000399162:T828A;ENSP00000398250:T809A	ENSP00000261864:T809A	T	-	1	0	MYO9A	70014776	1.000000	0.71417	0.979000	0.43373	0.987000	0.75469	1.312000	0.33574	-0.116000	0.11893	-0.472000	0.04984	ACT		0.383	MYO9A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257308.1	NM_006901		48	111	0	0	0	1	0	48	111				
CTNND2	1501	broad.mit.edu	37	5	11199589	11199589	+	Missense_Mutation	SNP	G	G	C			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr5:11199589G>C	ENST00000304623.8	-	11	2135	c.1946C>G	c.(1945-1947)aCt>aGt	p.T649S	CTNND2_ENST00000503622.1_Missense_Mutation_p.T312S|CTNND2_ENST00000359640.2_Missense_Mutation_p.T649S|CTNND2_ENST00000511377.1_Missense_Mutation_p.T558S|CTNND2_ENST00000495388.2_5'UTR|CTNND2_ENST00000458100.2_Missense_Mutation_p.T216S	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN	catenin (cadherin-associated protein), delta 2	649					cell adhesion (GO:0007155)|learning (GO:0007612)|morphogenesis of a branching structure (GO:0001763)|multicellular organismal development (GO:0007275)|regulation of synaptic plasticity (GO:0048167)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						CTCCAGGTCAGTCGTCTTGCG	0.428																																						ENST00000304623.8																			0				NS(1)|autonomic_ganglia(1)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(29)|liver(1)|lung(71)|ovary(4)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(4)|urinary_tract(2)	136						c.(1945-1947)aCt>aGt		catenin (cadherin-associated protein), delta 2							147.0	147.0	147.0					5																	11199589		2203	4300	6503	SO:0001583	missense	1501				multicellular organismal development|neuron cell-cell adhesion|regulation of transcription, DNA-dependent|signal transduction|transcription, DNA-dependent	adherens junction|cytoplasm|nucleus	protein binding	g.chr5:11199589G>C	U52828	CCDS3881.1, CCDS75227.1, CCDS75228.1	5p15.2	2013-02-14	2012-08-15		ENSG00000169862	ENSG00000169862		"""Armadillo repeat containing"""	2516	protein-coding gene	gene with protein product	"""neural plakophilin-related arm-repeat protein"""	604275	"""catenin (cadherin-associated protein), delta 2 (neural plakophilin-related arm-repeat protein)"""			9342840, 9223106	Standard	XM_005248251		Approved	NPRAP, GT24	uc003jfa.1	Q9UQB3	OTTHUMG00000090511	ENST00000304623.8:c.1946C>G	5.37:g.11199589G>C	ENSP00000307134:p.Thr649Ser					CTNND2_ENST00000503622.1_Missense_Mutation_p.T312S|CTNND2_ENST00000495388.2_5'UTR|CTNND2_ENST00000359640.2_Missense_Mutation_p.T649S|CTNND2_ENST00000458100.2_Missense_Mutation_p.T216S|CTNND2_ENST00000511377.1_Missense_Mutation_p.T558S	p.T649S	NM_001332.2	NP_001323.1	Q9UQB3	CTND2_HUMAN			11	2135	-			649					B0FTZ7|O00379|O15390|O43206|O43840|Q13589|Q9UM66|Q9UPM3	Missense_Mutation	SNP	ENST00000304623.8	37	c.1946C>G	CCDS3881.1	.	.	.	.	.	.	.	.	.	.	G	9.367	1.069473	0.20147	.	.	ENSG00000169862	ENST00000304623;ENST00000359640;ENST00000511377;ENST00000458100;ENST00000503622	T;T;T;T;T	0.44083	0.93;0.93;0.93;0.93;0.93	5.79	5.79	0.91817	Armadillo-like helical (1);Armadillo-type fold (1);	0.141387	0.64402	D	0.000005	T	0.21267	0.0512	N	0.02539	-0.55	0.50171	D	0.999851	B;B;B	0.21071	0.012;0.012;0.051	B;B;B	0.17433	0.012;0.012;0.018	T	0.19386	-1.0307	10	0.08837	T	0.75	-23.5527	20.0473	0.97613	0.0:0.0:1.0:0.0	.	312;216;649	B4DRK2;B4DG58;Q9UQB3	.;.;CTND2_HUMAN	S	649;649;558;216;312	ENSP00000307134:T649S;ENSP00000352661:T649S;ENSP00000426510:T558S;ENSP00000391155:T216S;ENSP00000426887:T312S	ENSP00000307134:T649S	T	-	2	0	CTNND2	11252589	1.000000	0.71417	0.977000	0.42913	0.995000	0.86356	9.471000	0.97696	2.722000	0.93159	0.655000	0.94253	ACT		0.428	CTNND2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206999.1	NM_001332		103	240	0	0	0	1	0	103	240				
BRDT	676	broad.mit.edu	37	1	92459709	92459709	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr1:92459709G>A	ENST00000362005.3	+	16	2603	c.2185G>A	c.(2185-2187)Gta>Ata	p.V729I	BRDT_ENST00000402388.1_Missense_Mutation_p.V729I|BRDT_ENST00000370389.2_Missense_Mutation_p.V656I|BRDT_ENST00000399546.2_Missense_Mutation_p.V729I|BRDT_ENST00000394530.3_Missense_Mutation_p.V683I	NM_001242805.1	NP_001229734	Q58F21	BRDT_HUMAN	bromodomain, testis-specific	729					cell differentiation (GO:0030154)|chromatin remodeling (GO:0006338)|histone displacement (GO:0001207)|male meiosis (GO:0007140)|male meiosis I (GO:0007141)|mRNA processing (GO:0006397)|positive regulation of transcription during meiosis (GO:0051039)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	histone binding (GO:0042393)|lysine-acetylated histone binding (GO:0070577)|transcription coactivator activity (GO:0003713)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(24)|ovary(1)|prostate(4)|skin(2)|stomach(2)|urinary_tract(2)	56		all_lung(203;0.00531)|Lung NSC(277;0.0194)		all cancers(265;0.0228)|Epithelial(280;0.133)		ACCTTCACATGTAATGCCACC	0.363																																						ENST00000370389.2																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(11)|lung(24)|ovary(1)|prostate(4)|skin(2)|stomach(2)|urinary_tract(2)	56						c.(1966-1968)Gta>Ata		bromodomain, testis-specific							183.0	160.0	168.0					1																	92459709		2203	4300	6503	SO:0001583	missense	676				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein serine/threonine kinase activity|transcription coactivator activity	g.chr1:92459709G>A	AF019085	CCDS735.1, CCDS55615.1, CCDS55616.1, CCDS72820.1	1p22.1	2010-12-23			ENSG00000137948	ENSG00000137948			1105	protein-coding gene	gene with protein product	"""cancer/testis antigen 9"""	602144				9367677	Standard	NM_001726		Approved	BRD6, CT9	uc010osz.2	Q58F21	OTTHUMG00000010113	ENST00000362005.3:c.2185G>A	1.37:g.92459709G>A	ENSP00000354568:p.Val729Ile					BRDT_ENST00000362005.3_Missense_Mutation_p.V729I|BRDT_ENST00000399546.2_Missense_Mutation_p.V729I|BRDT_ENST00000402388.1_Missense_Mutation_p.V729I|BRDT_ENST00000394530.3_Missense_Mutation_p.V683I	p.V656I	NM_001242810.1	NP_001229739.1	Q58F21	BRDT_HUMAN		all cancers(265;0.0228)|Epithelial(280;0.133)	15	2890	+		all_lung(203;0.00531)|Lung NSC(277;0.0194)	729			Ser-rich.		A6NF68|B7Z811|B7Z890|B7ZAX7|D3DT32|O14789|Q05DQ4|Q6P5T1|Q7Z4A6|Q8IWI6	Missense_Mutation	SNP	ENST00000362005.3	37	c.1966G>A	CCDS735.1	.	.	.	.	.	.	.	.	.	.	G	8.867	0.948243	0.18356	.	.	ENSG00000137948	ENST00000362005;ENST00000370389;ENST00000399546;ENST00000394530;ENST00000402388	T;T;T;T;T	0.06849	3.26;3.25;3.26;3.3;3.26	4.93	3.03	0.35002	.	0.946066	0.08719	N	0.903684	T	0.01661	0.0053	N	0.14661	0.345	0.09310	N	1	B;B;B;B	0.25486	0.127;0.127;0.022;0.127	B;B;B;B	0.20384	0.029;0.029;0.01;0.029	T	0.45323	-0.9269	10	0.45353	T	0.12	-0.4008	6.2504	0.20842	0.0981:0.1897:0.7123:0.0	.	683;683;733;729	B7ZAX7;B7Z811;B7Z890;Q58F21	.;.;.;BRDT_HUMAN	I	729;656;729;683;729	ENSP00000354568:V729I;ENSP00000359416:V656I;ENSP00000387822:V729I;ENSP00000378038:V683I;ENSP00000384051:V729I	ENSP00000354568:V729I	V	+	1	0	BRDT	92232297	0.016000	0.18221	0.004000	0.12327	0.045000	0.14185	1.150000	0.31639	1.412000	0.46977	0.655000	0.94253	GTA		0.363	BRDT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027980.2	NM_207189		86	125	0	0	0	1	0	86	125				
DNM3	26052	broad.mit.edu	37	1	171956858	171956858	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr1:171956858G>A	ENST00000355305.5	+	3	455	c.298G>A	c.(298-300)Gag>Aag	p.E100K	DNM3_ENST00000367731.1_Missense_Mutation_p.E100K|DNM3_ENST00000358155.4_Missense_Mutation_p.E100K|DNM3_ENST00000520906.1_Missense_Mutation_p.E100K|DNM3_ENST00000367733.2_Missense_Mutation_p.E100K			Q9UQ16	DYN3_HUMAN	dynamin 3	100	Dynamin-type G.				endocytosis (GO:0006897)|filopodium assembly (GO:0046847)|GTP catabolic process (GO:0006184)|synapse assembly (GO:0007416)	dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|perinuclear region of cytoplasm (GO:0048471)|postsynaptic density (GO:0014069)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(9)|lung(16)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						AGTTCGCCTTGAGATTGAAGC	0.348																																						ENST00000358155.4																			0				NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(9)|lung(16)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						c.(298-300)Gag>Aag		dynamin 3							138.0	152.0	148.0					1																	171956858		1840	4090	5930	SO:0001583	missense	26052				endocytosis|filopodium assembly|synapse assembly	dendritic spine|microtubule|perinuclear region of cytoplasm|postsynaptic density	GTP binding|GTPase activity|protein binding	g.chr1:171956858G>A	AL136712	CCDS44276.1, CCDS60356.1	1q24.1	2013-01-10			ENSG00000197959	ENSG00000197959		"""Pleckstrin homology (PH) domain containing"""	29125	protein-coding gene	gene with protein product	"""Dyna III"""	611445				10048485	Standard	NM_015569		Approved	KIAA0820	uc001gie.4	Q9UQ16	OTTHUMG00000034913	ENST00000355305.5:c.298G>A	1.37:g.171956858G>A	ENSP00000347457:p.Glu100Lys					DNM3_ENST00000367731.1_Missense_Mutation_p.E100K|DNM3_ENST00000367733.2_Missense_Mutation_p.E100K|DNM3_ENST00000355305.5_Missense_Mutation_p.E100K|DNM3_ENST00000520906.1_Missense_Mutation_p.E100K	p.E100K	NM_015569.3	NP_056384.2	Q9UQ16	DYN3_HUMAN			3	474	+			100					A9Z1Y1|O14982|O95555|Q1MTM8|Q5W129|Q6P2G1|Q9H0P3|Q9H548|Q9NQ68|Q9NQN6	Missense_Mutation	SNP	ENST00000355305.5	37	c.298G>A		.	.	.	.	.	.	.	.	.	.	G	33	5.254536	0.95336	.	.	ENSG00000197959	ENST00000359070;ENST00000358155;ENST00000367733;ENST00000355305;ENST00000367731;ENST00000520906	D;D;D;D;D	0.97161	-4.27;-4.27;-4.27;-4.27;-4.27	4.89	4.89	0.63831	.	0.000000	0.85682	D	0.000000	D	0.98566	0.9521	M	0.89658	3.05	0.80722	D	1	D;D;D;D	0.76494	0.997;0.992;0.999;0.998	D;P;D;D	0.73708	0.974;0.836;0.981;0.964	D	0.99701	1.1004	10	0.72032	D	0.01	.	16.6277	0.84984	0.0:0.0:1.0:0.0	.	100;100;100;100	E5RHK8;Q9UQ16-2;Q9UQ16-3;Q6P2G1	.;.;.;.	K	100	ENSP00000350876:E100K;ENSP00000356707:E100K;ENSP00000347457:E100K;ENSP00000356705:E100K;ENSP00000429701:E100K	ENSP00000347457:E100K	E	+	1	0	DNM3	170223481	1.000000	0.71417	0.998000	0.56505	0.981000	0.71138	9.731000	0.98807	2.246000	0.74042	0.591000	0.81541	GAG		0.348	DNM3-003	NOVEL	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000084531.1	NM_015569		102	144	0	0	0	1	0	102	144				
KCNU1	157855	broad.mit.edu	37	8	36693861	36693861	+	Missense_Mutation	SNP	A	A	G			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr8:36693861A>G	ENST00000399881.3	+	13	1380	c.1343A>G	c.(1342-1344)cAg>cGg	p.Q448R		NM_001031836.2	NP_001027006.2	A8MYU2	KCNU1_HUMAN	potassium channel, subfamily U, member 1	448	RCK N-terminal.				multicellular organism reproduction (GO:0032504)|potassium ion transmembrane transport (GO:0071805)|single fertilization (GO:0007338)|sperm-egg recognition (GO:0035036)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	large conductance calcium-activated potassium channel activity (GO:0060072)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(31)|ovary(1)|urinary_tract(1)	57				KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)		ATCATCATACAGATACTGCAA	0.358																																						ENST00000399881.3																			0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(1)|large_intestine(9)|lung(31)|ovary(1)|urinary_tract(1)	57						c.(1342-1344)cAg>cGg		potassium channel, subfamily U, member 1							147.0	141.0	143.0					8																	36693861		1834	4088	5922	SO:0001583	missense	157855					voltage-gated potassium channel complex	binding|large conductance calcium-activated potassium channel activity|voltage-gated potassium channel activity	g.chr8:36693861A>G	BC028701	CCDS55220.1	8p11.2	2012-07-05				ENSG00000215262		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	18867	protein-coding gene	gene with protein product		615215				16382103	Standard	NM_001031836		Approved	KCa5.1, Slo3, KCNMC1, Kcnma3	uc010lvw.3	A8MYU2		ENST00000399881.3:c.1343A>G	8.37:g.36693861A>G	ENSP00000382770:p.Gln448Arg						p.Q448R	NM_001031836.2	NP_001027006.2	A8MYU2	KCNU1_HUMAN		KIRC - Kidney renal clear cell carcinoma(67;0.0504)|Kidney(114;0.0634)	13	1380	+			448			RCK N-terminal.			Missense_Mutation	SNP	ENST00000399881.3	37	c.1343A>G	CCDS55220.1	.	.	.	.	.	.	.	.	.	.	A	18.16	3.563172	0.65538	.	.	ENSG00000215262	ENST00000399881	T	0.62364	0.03	5.6	5.6	0.85130	Potassium channel, calcium-activated, BK, alpha subunit (1);NAD(P)-binding domain (1);	0.000000	0.36482	U	0.002565	T	0.78071	0.4226	M	0.79693	2.465	0.80722	D	1	D	0.71674	0.998	P	0.61003	0.882	T	0.81728	-0.0800	10	0.87932	D	0	-8.2905	15.7476	0.77958	1.0:0.0:0.0:0.0	.	448	A8MYU2	KCNU1_HUMAN	R	448	ENSP00000382770:Q448R	ENSP00000382770:Q448R	Q	+	2	0	KCNU1	36813019	1.000000	0.71417	1.000000	0.80357	0.178000	0.23041	8.235000	0.89803	2.251000	0.74343	0.528000	0.53228	CAG		0.358	KCNU1-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376631.1	NM_001031836		65	70	0	0	0	1	0	65	70				
AP3B1	8546	broad.mit.edu	37	5	77521428	77521428	+	Missense_Mutation	SNP	C	C	G			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr5:77521428C>G	ENST00000255194.6	-	6	716	c.541G>C	c.(541-543)Gat>Cat	p.D181H	AP3B1_ENST00000519295.1_Missense_Mutation_p.D132H	NM_001271769.1	NP_001258698.1	O00203	AP3B1_HUMAN	adaptor-related protein complex 3, beta 1 subunit	181					anterograde axon cargo transport (GO:0008089)|anterograde synaptic vesicle transport (GO:0048490)|antigen processing and presentation, exogenous lipid antigen via MHC class Ib (GO:0048007)|blood coagulation (GO:0007596)|intracellular protein transport (GO:0006886)|melanosome organization (GO:0032438)|positive regulation of NK T cell differentiation (GO:0051138)|protein targeting to lysosome (GO:0006622)	AP-3 adaptor complex (GO:0030123)|cytoplasmic vesicle (GO:0031410)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)	GTP-dependent protein binding (GO:0030742)|protein phosphatase binding (GO:0019903)			breast(5)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(12)|lung(12)|prostate(1)|skin(2)|urinary_tract(1)	39		all_lung(232;0.000397)|Lung NSC(167;0.00106)|Ovarian(174;0.0105)|Prostate(461;0.215)		OV - Ovarian serous cystadenocarcinoma(54;8.23e-47)|Epithelial(54;2.74e-41)|all cancers(79;4.8e-36)		TGCTCTGGATCAAGGCTAAAA	0.284									Hermansky-Pudlak syndrome																													ENST00000255194.6																			0				breast(5)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(12)|lung(12)|prostate(1)|skin(2)|urinary_tract(1)	39						c.(541-543)Gat>Cat		adaptor-related protein complex 3, beta 1 subunit							51.0	51.0	51.0					5																	77521428		2189	4257	6446	SO:0001583	missense	8546	Hermansky-Pudlak syndrome	Familial Cancer Database	HPS, HPS1-8	endocytosis|melanosome organization	clathrin coated vesicle membrane|Golgi apparatus|membrane coat	protein phosphatase binding|protein transporter activity	g.chr5:77521428C>G	U81504	CCDS4041.1, CCDS64186.1	5q14.1	2014-09-17			ENSG00000132842	ENSG00000132842			566	protein-coding gene	gene with protein product		603401				9182526, 9151686	Standard	NM_003664		Approved	ADTB3A, HPS2	uc003kfj.4	O00203	OTTHUMG00000106919	ENST00000255194.6:c.541G>C	5.37:g.77521428C>G	ENSP00000255194:p.Asp181His					AP3B1_ENST00000519295.1_Missense_Mutation_p.D132H	p.D181H	NM_001271769.1	NP_001258698.1	O00203	AP3B1_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;8.23e-47)|Epithelial(54;2.74e-41)|all cancers(79;4.8e-36)	6	716	-		all_lung(232;0.000397)|Lung NSC(167;0.00106)|Ovarian(174;0.0105)|Prostate(461;0.215)	181					E5RJ68|O00580|Q7Z393|Q9HD66	Missense_Mutation	SNP	ENST00000255194.6	37	c.541G>C	CCDS4041.1	.	.	.	.	.	.	.	.	.	.	C	25.5	4.647369	0.87958	.	.	ENSG00000132842	ENST00000255194;ENST00000519295;ENST00000535760;ENST00000535667	T;T	0.13196	2.61;2.61	5.97	5.97	0.96955	Clathrin/coatomer adaptor, adaptin-like, N-terminal (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.098164	0.64402	D	0.000002	T	0.53029	0.1771	H	0.94886	3.595	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.64664	-0.6354	10	0.87932	D	0	-14.1696	20.4324	0.99085	0.0:1.0:0.0:0.0	.	181	O00203	AP3B1_HUMAN	H	181;132;181;85	ENSP00000255194:D181H;ENSP00000430597:D132H	ENSP00000255194:D181H	D	-	1	0	AP3B1	77557184	1.000000	0.71417	1.000000	0.80357	0.931000	0.56810	7.740000	0.84986	2.833000	0.97629	0.585000	0.79938	GAT		0.284	AP3B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000225548.2			4	38	0	0	0	1	0	4	38				
PGLYRP2	114770	broad.mit.edu	37	19	15580643	15580643	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr19:15580643C>T	ENST00000340880.4	-	4	1921	c.1441G>A	c.(1441-1443)Gcc>Acc	p.A481T	PGLYRP2_ENST00000292609.4_Missense_Mutation_p.A481T	NM_052890.3	NP_443122.3	Q96PD5	PGRP2_HUMAN	peptidoglycan recognition protein 2	481					defense response to Gram-positive bacterium (GO:0050830)|detection of bacterium (GO:0016045)|growth of symbiont in host (GO:0044117)|innate immune response (GO:0045087)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of natural killer cell differentiation involved in immune response (GO:0032827)|pattern recognition receptor signaling pathway (GO:0002221)|peptide amidation (GO:0001519)|peptidoglycan catabolic process (GO:0009253)|regulation of inflammatory response (GO:0050727)	extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|membrane (GO:0016020)	N-acetylmuramoyl-L-alanine amidase activity (GO:0008745)|peptidoglycan binding (GO:0042834)|peptidoglycan receptor activity (GO:0016019)|zinc ion binding (GO:0008270)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(3)|prostate(2)|skin(3)|stomach(2)|urinary_tract(1)	28						CCCACTATGGCCACGCCGAAG	0.726																																						ENST00000292609.4																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(3)|prostate(2)|skin(3)|stomach(2)|urinary_tract(1)	28						c.(1441-1443)Gcc>Acc		peptidoglycan recognition protein 2							8.0	11.0	10.0					19																	15580643		2170	4238	6408	SO:0001583	missense	114770				defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptide amidation|peptidoglycan catabolic process	extracellular region|intracellular|membrane	N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding	g.chr19:15580643C>T	AY358156	CCDS12330.2	19p13.12	2010-04-27			ENSG00000161031	ENSG00000161031	3.5.1.28		30013	protein-coding gene	gene with protein product	"""peptidoglycan recognition protein L precursor"", ""peptidoglycan recognition protein-like"", ""N-acetylmuramoyl-L-alanine amidase"""	608199				11461926, 12669421, 14506276	Standard	NM_052890		Approved	PGRP-L, PGLYRPL, TAGL-like, tagL, tagL-alpha, tagl-beta, PGRPL	uc002nbf.4	Q96PD5	OTTHUMG00000150690	ENST00000340880.4:c.1441G>A	19.37:g.15580643C>T	ENSP00000345968:p.Ala481Thr					PGLYRP2_ENST00000340880.4_Missense_Mutation_p.A481T	p.A481T			Q96PD5	PGRP2_HUMAN			4	1570	-			481					A8K050|A8K8C7|B2RMZ2|B7ZM33|Q68CK1|Q96N74|Q9UC60	Missense_Mutation	SNP	ENST00000340880.4	37	c.1441G>A	CCDS12330.2	.	.	.	.	.	.	.	.	.	.	C	20.2	3.945725	0.73672	.	.	ENSG00000161031	ENST00000340880;ENST00000292609	T;T	0.21734	1.99;1.99	5.2	4.14	0.48551	Peptidoglycan recognition protein family domain, metazoa/bacteria (1);N-acetylmuramoyl-L-alanine amidase domain (4);	0.251899	0.39341	N	0.001394	T	0.36524	0.0970	M	0.71581	2.175	0.32657	N	0.518663	P;D	0.60575	0.533;0.988	B;P	0.62885	0.343;0.908	T	0.50857	-0.8778	10	0.72032	D	0.01	-7.2842	5.3045	0.15795	0.2507:0.6433:0.0:0.106	.	481;481	Q96PD5-2;Q96PD5	.;PGRP2_HUMAN	T	481	ENSP00000345968:A481T;ENSP00000292609:A481T	ENSP00000292609:A481T	A	-	1	0	PGLYRP2	15441643	0.986000	0.35501	1.000000	0.80357	0.357000	0.29423	0.827000	0.27421	2.432000	0.82394	0.462000	0.41574	GCC		0.726	PGLYRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319626.1	NM_052890		19	15	0	0	0	1	0	19	15				
EFCAB6	64800	broad.mit.edu	37	22	44083357	44083357	+	Missense_Mutation	SNP	C	C	T	rs202185564		TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr22:44083357C>T	ENST00000262726.7	-	11	1389	c.1136G>A	c.(1135-1137)aGa>aAa	p.R379K	EFCAB6_ENST00000358439.4_Intron|EFCAB6_ENST00000396231.2_Missense_Mutation_p.R227K	NM_022785.3	NP_073622.2	Q5THR3	EFCB6_HUMAN	EF-hand calcium binding domain 6	379					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	calcium ion binding (GO:0005509)			breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68		Ovarian(80;0.0247)|all_neural(38;0.025)				ATACCTATTTCTTTTTGTCAG	0.308																																						ENST00000262726.7																			0				breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68						c.(1135-1137)aGa>aAa		EF-hand calcium binding domain 6							41.0	41.0	41.0					22																	44083357		2203	4300	6503	SO:0001583	missense	64800				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	calcium ion binding	g.chr22:44083357C>T	Z82201	CCDS14049.1, CCDS14050.1	22q13.2	2013-01-10			ENSG00000186976	ENSG00000186976		"""EF-hand domain containing"""	24204	protein-coding gene	gene with protein product						11258795, 12612053	Standard	NM_022785		Approved	FLJ23588, DJBP, HSCBCIP1, KIAA1672, dJ185D5.1	uc003bdy.2	Q5THR3	OTTHUMG00000150522	ENST00000262726.7:c.1136G>A	22.37:g.44083357C>T	ENSP00000262726:p.Arg379Lys					EFCAB6_ENST00000396231.2_Missense_Mutation_p.R227K|EFCAB6_ENST00000358439.4_Intron	p.R379K	NM_022785.3	NP_073622.2	Q5THR3	EFCB6_HUMAN			11	1389	-		Ovarian(80;0.0247)|all_neural(38;0.025)	379					A8K8P6|A8K8Y3|B0QYI4|B0QYI6|Q5U5T6|Q9BY88|Q9H5C4|Q9NSF5	Missense_Mutation	SNP	ENST00000262726.7	37	c.1136G>A	CCDS14049.1	.	.	.	.	.	.	.	.	.	.	C	2.590	-0.295528	0.05532	.	.	ENSG00000186976	ENST00000396231;ENST00000262726	T;T	0.13307	2.6;2.6	4.68	-0.0607	0.13788	.	0.745406	0.12056	N	0.503664	T	0.12050	0.0293	M	0.63428	1.95	0.09310	N	1	B;B	0.21753	0.06;0.041	B;B	0.19666	0.026;0.018	T	0.31530	-0.9940	10	0.29301	T	0.29	-7.7723	3.6739	0.08284	0.0:0.4699:0.1869:0.3432	.	379;379	Q5THR3-6;Q5THR3	.;EFCB6_HUMAN	K	227;379	ENSP00000379533:R227K;ENSP00000262726:R379K	ENSP00000262726:R379K	R	-	2	0	EFCAB6	42414690	0.077000	0.21312	0.006000	0.13384	0.214000	0.24535	0.180000	0.16860	0.208000	0.20626	0.655000	0.94253	AGA		0.308	EFCAB6-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353176.1	NM_022785		9	52	0	0	0	1	0	9	52				
SLIT2	9353	broad.mit.edu	37	4	20620619	20620619	+	Missense_Mutation	SNP	G	G	T	rs374092950		TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr4:20620619G>T	ENST00000504154.1	+	37	4829	c.4577G>T	c.(4576-4578)aGg>aTg	p.R1526M	SLIT2_ENST00000503837.1_Missense_Mutation_p.R1522M|SLIT2_ENST00000503823.1_Missense_Mutation_p.R1518M|SLIT2_ENST00000273739.5_Missense_Mutation_p.R1539M	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN	slit homolog 2 (Drosophila)	1526	CTCK. {ECO:0000255|PROSITE- ProRule:PRU00039, ECO:0000305}.				apoptotic process involved in luteolysis (GO:0061364)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|branching morphogenesis of an epithelial tube (GO:0048754)|cell migration involved in sprouting angiogenesis (GO:0002042)|cellular response to heparin (GO:0071504)|cellular response to hormone stimulus (GO:0032870)|chemorepulsion involved in postnatal olfactory bulb interneuron migration (GO:0021836)|corticospinal neuron axon guidance through spinal cord (GO:0021972)|dorsal/ventral axon guidance (GO:0033563)|in utero embryonic development (GO:0001701)|induction of negative chemotaxis (GO:0050929)|mammary duct terminal end bud growth (GO:0060763)|metanephros development (GO:0001656)|motor neuron axon guidance (GO:0008045)|negative chemotaxis (GO:0050919)|negative regulation of actin filament polymerization (GO:0030837)|negative regulation of axon extension (GO:0030517)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cellular response to growth factor stimulus (GO:0090288)|negative regulation of chemokine-mediated signaling pathway (GO:0070100)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of gene expression (GO:0010629)|negative regulation of lamellipodium assembly (GO:0010593)|negative regulation of leukocyte chemotaxis (GO:0002689)|negative regulation of monocyte chemotaxis (GO:0090027)|negative regulation of mononuclear cell migration (GO:0071676)|negative regulation of neutrophil chemotaxis (GO:0090024)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of retinal ganglion cell axon guidance (GO:0090260)|negative regulation of small GTPase mediated signal transduction (GO:0051058)|negative regulation of smooth muscle cell chemotaxis (GO:0071672)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of vascular permeability (GO:0043116)|positive regulation of apoptotic process (GO:0043065)|positive regulation of axonogenesis (GO:0050772)|response to cortisol (GO:0051414)|retinal ganglion cell axon guidance (GO:0031290)|Roundabout signaling pathway (GO:0035385)|single organismal cell-cell adhesion (GO:0016337)|ureteric bud development (GO:0001657)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|chemorepellent activity (GO:0045499)|GTPase inhibitor activity (GO:0005095)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|laminin-1 binding (GO:0043237)|protein homodimerization activity (GO:0042803)|proteoglycan binding (GO:0043394)|Roundabout binding (GO:0048495)	p.R1526T(1)		NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						GGCTGTACGAGGTGTGTGTCC	0.498																																						ENST00000504154.1																			1	Substitution - Missense(1)	p.R1526T(1)	lung(1)	NS(1)|breast(4)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(17)|lung(60)|ovary(3)|pancreas(1)|prostate(2)|skin(10)|upper_aerodigestive_tract(1)	116						c.(4576-4578)aGg>aTg		slit homolog 2 (Drosophila)							103.0	92.0	96.0					4																	20620619		2203	4300	6503	SO:0001583	missense	9353				apoptosis involved in luteolysis|axon extension involved in axon guidance|branching morphogenesis of a tube|cell migration involved in sprouting angiogenesis|cellular response to heparin|cellular response to hormone stimulus|chemorepulsion involved in postnatal olfactory bulb interneuron migration|corticospinal neuron axon guidance through spinal cord|induction of negative chemotaxis|motor axon guidance|negative regulation of actin filament polymerization|negative regulation of cell growth|negative regulation of cellular response to growth factor stimulus|negative regulation of chemokine-mediated signaling pathway|negative regulation of endothelial cell migration|negative regulation of lamellipodium assembly|negative regulation of mononuclear cell migration|negative regulation of neutrophil chemotaxis|negative regulation of protein phosphorylation|negative regulation of retinal ganglion cell axon guidance|negative regulation of small GTPase mediated signal transduction|negative regulation of smooth muscle cell chemotaxis|negative regulation of vascular permeability|positive regulation of apoptosis|positive regulation of axonogenesis|response to cortisol stimulus|retinal ganglion cell axon guidance|Roundabout signaling pathway|ureteric bud development	cell surface|cytoplasm|extracellular space|plasma membrane	calcium ion binding|GTPase inhibitor activity|heparin binding|laminin-1 binding|protein homodimerization activity|proteoglycan binding|Roundabout binding	g.chr4:20620619G>T	AF055585	CCDS3426.1, CCDS75110.1, CCDS75111.1	4p15.2	2008-08-01	2001-11-28		ENSG00000145147	ENSG00000145147			11086	protein-coding gene	gene with protein product		603746	"""slit (Drosophila) homolog 2"""	SLIL3		9813312, 18269211	Standard	XM_005248211		Approved	Slit-2	uc003gpr.1	O94813	OTTHUMG00000128551	ENST00000504154.1:c.4577G>T	4.37:g.20620619G>T	ENSP00000422591:p.Arg1526Met					SLIT2_ENST00000503837.1_Missense_Mutation_p.R1522M|SLIT2_ENST00000503823.1_Missense_Mutation_p.R1518M|SLIT2_ENST00000273739.5_Missense_Mutation_p.R1539M	p.R1526M	NM_004787.1	NP_004778.1	O94813	SLIT2_HUMAN			37	4829	+			1526			CTCK.		B7ZLR5|O95710|Q17RU3|Q9Y5Q7	Missense_Mutation	SNP	ENST00000504154.1	37	c.4577G>T	CCDS3426.1	.	.	.	.	.	.	.	.	.	.	G	9.223	1.033926	0.19590	.	.	ENSG00000145147	ENST00000503823;ENST00000504154;ENST00000273739;ENST00000382173;ENST00000503837	T;T;T;T	0.81163	-1.45;-1.46;-1.38;-1.43	5.88	3.18	0.36537	Cystine knot, C-terminal (3);	0.197725	0.49916	D	0.000127	T	0.63604	0.2525	N	0.19112	0.55	0.40587	D	0.981456	B;B	0.32160	0.358;0.241	B;B	0.33392	0.163;0.081	T	0.60505	-0.7250	10	0.56958	D	0.05	.	3.5558	0.07863	0.3219:0.1905:0.4875:0.0	.	1518;1526	O94813-3;O94813	.;SLIT2_HUMAN	M	1518;1526;1539;1522;1522	ENSP00000427548:R1518M;ENSP00000422591:R1526M;ENSP00000273739:R1539M;ENSP00000422261:R1522M	ENSP00000273739:R1539M	R	+	2	0	SLIT2	20229717	0.966000	0.33281	0.378000	0.26068	0.183000	0.23260	2.380000	0.44327	0.797000	0.33971	0.650000	0.86243	AGG		0.498	SLIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250396.2			24	109	1	0	2.12542e-12	1	2.38136e-12	24	109				
NOS2	4843	broad.mit.edu	37	17	26091081	26091081	+	Missense_Mutation	SNP	G	G	T			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr17:26091081G>T	ENST00000313735.6	-	21	2751	c.2518C>A	c.(2518-2520)Cag>Aag	p.Q840K		NM_000625.4	NP_000616.3	P35228	NOS2_HUMAN	nitric oxide synthase 2, inducible	840	FAD-binding FR-type. {ECO:0000255|PROSITE-ProRule:PRU00716}.				arginine catabolic process (GO:0006527)|blood coagulation (GO:0007596)|cellular response to interferon-gamma (GO:0071346)|cellular response to lipopolysaccharide (GO:0071222)|circadian rhythm (GO:0007623)|defense response to bacterium (GO:0042742)|defense response to Gram-negative bacterium (GO:0050829)|inflammatory response (GO:0006954)|innate immune response in mucosa (GO:0002227)|interaction with host (GO:0051701)|negative regulation of blood pressure (GO:0045776)|negative regulation of gene expression (GO:0010629)|negative regulation of protein catabolic process (GO:0042177)|nitric oxide biosynthetic process (GO:0006809)|nitric oxide mediated signal transduction (GO:0007263)|peptidyl-cysteine S-nitrosylation (GO:0018119)|phagosome maturation (GO:0090382)|positive regulation of guanylate cyclase activity (GO:0031284)|positive regulation of killing of cells of other organism (GO:0051712)|positive regulation of leukocyte mediated cytotoxicity (GO:0001912)|positive regulation of vasodilation (GO:0045909)|regulation of cell proliferation (GO:0042127)|regulation of cellular respiration (GO:0043457)|regulation of insulin secretion (GO:0050796)|response to bacterium (GO:0009617)|response to hypoxia (GO:0001666)|superoxide metabolic process (GO:0006801)	cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular (GO:0005622)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|peroxisome (GO:0005777)	arginine binding (GO:0034618)|flavin adenine dinucleotide binding (GO:0050660)|FMN binding (GO:0010181)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|NADP binding (GO:0050661)|NADPH-hemoprotein reductase activity (GO:0003958)|nitric-oxide synthase activity (GO:0004517)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|tetrahydrobiopterin binding (GO:0034617)			autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(28)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	56					Dexamethasone(DB01234)|Doxorubicin(DB00997)|L-Arginine(DB00125)|L-Citrulline(DB00155)|Miconazole(DB01110)|Triflusal(DB08814)	AGCAGCAGCTGGGTTGGGGGT	0.632																																						ENST00000313735.6																			0				autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(28)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	56						c.(2518-2520)Cag>Aag		nitric oxide synthase 2, inducible	Dexamethasone(DB01234)|Hydrocortisone(DB00741)|L-Arginine(DB00125)|L-Citrulline(DB00155)						33.0	35.0	34.0					17																	26091081		2203	4300	6503	SO:0001583	missense	4843				arginine catabolic process|defense response to Gram-negative bacterium|innate immune response in mucosa|nitric oxide biosynthetic process|peptidyl-cysteine S-nitrosylation|platelet activation|positive regulation of killing of cells of other organism|positive regulation of leukocyte mediated cytotoxicity|regulation of cellular respiration|regulation of insulin secretion|superoxide metabolic process	cytosol|nucleus	arginine binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|protein homodimerization activity|tetrahydrobiopterin binding	g.chr17:26091081G>T	U20141	CCDS11223.1	17q11.2	2014-06-12	2008-09-16	2008-09-16	ENSG00000007171	ENSG00000007171	1.14.13.39		7873	protein-coding gene	gene with protein product		163730	"""nitric oxide synthase 2A (inducible, hepatocytes)"""	NOS2A		7682706	Standard	NM_000625		Approved	iNOS, NOS, HEP-NOS	uc002gzu.3	P35228	OTTHUMG00000132445	ENST00000313735.6:c.2518C>A	17.37:g.26091081G>T	ENSP00000327251:p.Gln840Lys						p.Q840K	NM_000625.4	NP_000616.3	P35228	NOS2_HUMAN			21	2751	-			840			FAD-binding FR-type.		A1L3U5|B7ZLY2|O60757|O94994|Q16263|Q16692|Q4TTS5|Q9UD42	Missense_Mutation	SNP	ENST00000313735.6	37	c.2518C>A	CCDS11223.1	.	.	.	.	.	.	.	.	.	.	G	17.40	3.380340	0.61845	.	.	ENSG00000007171	ENST00000313735;ENST00000379105	T	0.27256	1.68	5.23	5.23	0.72850	Riboflavin synthase-like beta-barrel (1);FAD-binding, type 1 (1);NADPH-cytochrome p450 reductase, FAD-binding, alpha-helical domain-3 (1);Ferredoxin reductase-type FAD-binding domain (1);	0.000000	0.85682	D	0.000000	T	0.22003	0.0530	N	0.25485	0.75	0.54753	D	0.999986	B	0.30584	0.286	B	0.32864	0.154	T	0.03717	-1.1010	10	0.33141	T	0.24	.	17.3875	0.87421	0.0:0.0:1.0:0.0	.	840	P35228	NOS2_HUMAN	K	840;801	ENSP00000327251:Q840K	ENSP00000327251:Q840K	Q	-	1	0	NOS2	23115208	1.000000	0.71417	1.000000	0.80357	0.366000	0.29705	9.867000	0.99620	2.448000	0.82819	0.462000	0.41574	CAG		0.632	NOS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255597.1	NM_000625		25	41	1	0	1.5548e-18	1	1.8905e-18	25	41				
CACNA1I	8911	broad.mit.edu	37	22	40075138	40075138	+	Silent	SNP	C	C	T			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr22:40075138C>T	ENST00000402142.3	+	32	5082	c.5082C>T	c.(5080-5082)gaC>gaT	p.D1694D	CACNA1I_ENST00000404898.1_Silent_p.D1659D|CACNA1I_ENST00000336649.4_Silent_p.D1700D|CACNA1I_ENST00000401624.1_Silent_p.D1694D|CACNA1I_ENST00000407673.1_Silent_p.D1659D|CACNA1I_ENST00000400164.3_Silent_p.D1659D	NM_021096.3	NP_066919.2	Q9P0X4	CAC1I_HUMAN	calcium channel, voltage-dependent, T type, alpha 1I subunit	1694					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|signal transduction (GO:0007165)|sleep (GO:0030431)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	voltage-gated calcium channel activity (GO:0005245)			breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Melanoma(58;0.0749)				Cinnarizine(DB00568)|Flunarizine(DB04841)|Paramethadione(DB00617)|Spironolactone(DB00421)|Verapamil(DB00661)|Zonisamide(DB00909)	GCACCCACGACGAGCGCAGCT	0.657																																						ENST00000336649.4																			0				breast(2)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|liver(2)|lung(27)|ovary(1)|pancreas(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	60						c.(5098-5100)gaC>gaT		calcium channel, voltage-dependent, T type, alpha 1I subunit	Flunarizine(DB04841)|Paramethadione(DB00617)|Verapamil(DB00661)						16.0	18.0	17.0					22																	40075138		2174	4273	6447	SO:0001819	synonymous_variant	8911				axon guidance|signal transduction	voltage-gated calcium channel complex	low voltage-gated calcium channel activity|protein binding	g.chr22:40075138C>T	AF129133	CCDS46710.1, CCDS46711.1	22q13.1	2012-03-07	2007-02-16		ENSG00000100346	ENSG00000100346		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1396	protein-coding gene	gene with protein product		608230				10454147, 16382099	Standard	NM_021096		Approved	Cav3.3	uc003ayd.3	Q9P0X4	OTTHUMG00000151096	ENST00000402142.3:c.5082C>T	22.37:g.40075138C>T						CACNA1I_ENST00000402142.3_Silent_p.D1694D|CACNA1I_ENST00000401624.1_Silent_p.D1694D|CACNA1I_ENST00000407673.1_Silent_p.D1659D|CACNA1I_ENST00000404898.1_Silent_p.D1659D|CACNA1I_ENST00000400164.3_Silent_p.D1659D	p.D1700D			Q9P0X4	CAC1I_HUMAN			35	5100	+	Melanoma(58;0.0749)		1694					B0QY12|B0QY13|B0QY14|O95504|Q5JZ88|Q7Z6S9|Q8NFX6|Q9NZC8|Q9UH15|Q9UH30|Q9ULU9|Q9UNE6	Silent	SNP	ENST00000402142.3	37	c.5100C>T	CCDS46710.1																																																																																				0.657	CACNA1I-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000321290.1	NM_001003406		5	34	0	0	0	1	0	5	34				
NSD1	64324	broad.mit.edu	37	5	176638368	176638368	+	Nonsense_Mutation	SNP	G	G	T	rs138673583		TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr5:176638368G>T	ENST00000439151.2	+	5	3013	c.2968G>T	c.(2968-2970)Gag>Tag	p.E990*	NSD1_ENST00000361032.4_Nonsense_Mutation_p.E887*|NSD1_ENST00000347982.4_Nonsense_Mutation_p.E721*|NSD1_ENST00000354179.4_Nonsense_Mutation_p.E721*	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	nuclear receptor binding SET domain protein 1	990					gastrulation with mouth forming second (GO:0001702)|histone H3-K36 methylation (GO:0010452)|histone H4-K20 methylation (GO:0034770)|histone methylation (GO:0016571)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|estrogen receptor binding (GO:0030331)|histone methyltransferase activity (H3-K36 specific) (GO:0046975)|histone methyltransferase activity (H4-K20 specific) (GO:0042799)|retinoic acid receptor binding (GO:0042974)|retinoid X receptor binding (GO:0046965)|thyroid hormone receptor binding (GO:0046966)|transcription cofactor activity (GO:0003712)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)		ATTATCTGGCGAGTTGTCTGC	0.527			T	NUP98	AML		Sotos Syndrome		Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	HNSCC(47;0.14)																												ENST00000439151.2				Dom	yes		5	5q35	64324	T	nuclear receptor binding SET domain protein 1	yes	Sotos Syndrome	L	NUP98		AML		0				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(18)|lung(24)|ovary(2)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(3)	96						c.(2968-2970)Gag>Tag		nuclear receptor binding SET domain protein 1							95.0	92.0	93.0					5																	176638368		2203	4300	6503	SO:0001587	stop_gained	64324	Weaver syndrome;Sotos syndrome;Beckwith-Wiedemann syndrome	Familial Cancer Database	Weaver-Smith syndrome;Cerebral Gigantism;BWS, Exomphalos-Macroglossia-Gigantism (EMG) syndrome, Wiedemann-Beckwith syndrome, WBS	negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nucleus	androgen receptor binding|chromatin binding|estrogen receptor binding|histone methyltransferase activity (H3-K36 specific)|histone methyltransferase activity (H4-K20 specific)|ligand-dependent nuclear receptor binding|retinoid X receptor binding|thyroid hormone receptor binding|transcription corepressor activity|zinc ion binding	g.chr5:176638368G>T	AK026066	CCDS4412.1, CCDS4413.1	5q35	2014-09-17	2003-03-12		ENSG00000165671	ENSG00000165671		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	14234	protein-coding gene	gene with protein product		606681	"""Sotos syndrome"""	STO		9628876, 11896389	Standard	NM_022455		Approved	ARA267, FLJ22263, KMT3B	uc003mfr.4	Q96L73	OTTHUMG00000130846	ENST00000439151.2:c.2968G>T	5.37:g.176638368G>T	ENSP00000395929:p.Glu990*	HNSCC(47;0.14)				NSD1_ENST00000361032.4_Nonsense_Mutation_p.E887*|NSD1_ENST00000354179.4_Nonsense_Mutation_p.E721*|NSD1_ENST00000347982.4_Nonsense_Mutation_p.E721*	p.E990*	NM_022455.4	NP_071900.2	Q96L73	NSD1_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.198)	Kidney(146;0.235)	5	3013	+	all_cancers(89;1.57e-05)|Renal(175;0.000269)|Lung NSC(126;0.00111)|all_lung(126;0.002)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	990					Q96PD8|Q96RN7	Nonsense_Mutation	SNP	ENST00000439151.2	37	c.2968G>T	CCDS4412.1	.	.	.	.	.	.	.	.	.	.	G	22.3	4.274995	0.80580	.	.	ENSG00000165671	ENST00000354179;ENST00000439151;ENST00000347982;ENST00000361032	.	.	.	4.51	3.63	0.41609	.	0.215951	0.32488	N	0.006032	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	6.9945	0.24774	0.2038:0.0:0.7962:0.0	.	.	.	.	X	721;990;721;887	.	.	E	+	1	0	NSD1	176570974	1.000000	0.71417	0.660000	0.29694	0.019000	0.09904	4.405000	0.59741	1.245000	0.43885	0.563000	0.77884	GAG		0.527	NSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253412.2	NM_172349		167	46	1	0	3.75818e-72	1	5.62412e-72	167	46				
SEMA5B	54437	broad.mit.edu	37	3	122645426	122645426	+	Missense_Mutation	SNP	G	G	T			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr3:122645426G>T	ENST00000357599.3	-	9	1335	c.949C>A	c.(949-951)Cgc>Agc	p.R317S	SEMA5B_ENST00000451055.2_Missense_Mutation_p.R371S|SEMA5B_ENST00000195173.4_Missense_Mutation_p.R317S|AC078794.1_ENST00000408284.1_RNA	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	317	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)		CGGGCCACGCGAGAGTACACG	0.602																																						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.(949-951)Cgc>Agc		sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semaphorin) 5B							60.0	49.0	53.0					3																	122645426		2203	4300	6503	SO:0001583	missense	54437				cell differentiation|nervous system development	integral to membrane	receptor activity	g.chr3:122645426G>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.949C>A	3.37:g.122645426G>T	ENSP00000350215:p.Arg317Ser					SEMA5B_ENST00000451055.2_Missense_Mutation_p.R371S|SEMA5B_ENST00000357599.3_Missense_Mutation_p.R317S	p.R317S			Q9P283	SEM5B_HUMAN		GBM - Glioblastoma multiforme(114;0.0367)	9	1252	-			317			Sema.		A8K5U2|B7Z393|F8W9U8|Q6DD89|Q6UY12|Q9NW17	Missense_Mutation	SNP	ENST00000357599.3	37	c.949C>A	CCDS35491.1	.	.	.	.	.	.	.	.	.	.	G	26.2	4.715476	0.89112	.	.	ENSG00000082684	ENST00000357599;ENST00000195173;ENST00000418793;ENST00000451055;ENST00000393583	T;T;T;T	0.32023	1.47;1.47;1.47;1.47	4.69	3.8	0.43715	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.000000	0.85682	D	0.000000	T	0.64338	0.2589	M	0.93283	3.4	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.997;0.998;0.998	T	0.74836	-0.3529	10	0.87932	D	0	.	13.4675	0.61263	0.0:0.0:0.8428:0.1572	.	259;317;317	D3YTI7;B5ME80;Q9P283	.;.;SEM5B_HUMAN	S	317;317;259;371;317	ENSP00000350215:R317S;ENSP00000195173:R317S;ENSP00000389588:R371S;ENSP00000377208:R317S	ENSP00000195173:R317S	R	-	1	0	SEMA5B	124128116	1.000000	0.71417	0.844000	0.33320	0.976000	0.68499	7.808000	0.86044	1.176000	0.42840	0.650000	0.86243	CGC		0.602	SEMA5B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000277165.1	NM_001031702		17	62	1	0	1.99824e-07	1	2.10651e-07	17	62				
ARHGAP20	57569	broad.mit.edu	37	11	110501372	110501372	+	Missense_Mutation	SNP	A	A	G			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr11:110501372A>G	ENST00000260283.4	-	4	616	c.332T>C	c.(331-333)cTg>cCg	p.L111P	ARHGAP20_ENST00000528829.1_Missense_Mutation_p.L75P|ARHGAP20_ENST00000533353.1_Missense_Mutation_p.L85P|ARHGAP20_ENST00000357139.3_Missense_Mutation_p.L85P|ARHGAP20_ENST00000527598.1_Missense_Mutation_p.L75P|ARHGAP20_ENST00000524756.1_Missense_Mutation_p.L88P	NM_020809.3	NP_065860.2	Q9P2F6	RHG20_HUMAN	Rho GTPase activating protein 20	111	PH.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(18)|lung(13)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	60		all_cancers(61;3.26e-12)|all_epithelial(67;6.09e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000484)|Acute lymphoblastic leukemia(157;0.000967)|all_neural(223;0.0199)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;3.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|all cancers(92;0.000147)|OV - Ovarian serous cystadenocarcinoma(223;0.0475)		CACAACAAACAGATCATTGAA	0.398																																						ENST00000260283.4																			0				breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(18)|lung(13)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	60						c.(331-333)cTg>cCg		Rho GTPase activating protein 20							81.0	85.0	84.0					11																	110501372		2201	4298	6499	SO:0001583	missense	57569				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	g.chr11:110501372A>G	AB037812	CCDS31673.1, CCDS58175.1, CCDS58176.1, CCDS58177.1	11q23.2	2011-06-29			ENSG00000137727	ENSG00000137727		"""Rho GTPase activating proteins"""	18357	protein-coding gene	gene with protein product		609568				14532992	Standard	NM_020809		Approved	KIAA1391	uc001pkz.2	Q9P2F6	OTTHUMG00000166590	ENST00000260283.4:c.332T>C	11.37:g.110501372A>G	ENSP00000260283:p.Leu111Pro					ARHGAP20_ENST00000527598.1_Missense_Mutation_p.L75P|ARHGAP20_ENST00000528829.1_Missense_Mutation_p.L75P|ARHGAP20_ENST00000357139.3_Missense_Mutation_p.L85P|ARHGAP20_ENST00000524756.1_Missense_Mutation_p.L88P|ARHGAP20_ENST00000533353.1_Missense_Mutation_p.L85P	p.L111P	NM_020809.3	NP_065860.2	Q9P2F6	RHG20_HUMAN		Epithelial(105;3.05e-06)|BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|all cancers(92;0.000147)|OV - Ovarian serous cystadenocarcinoma(223;0.0475)	4	616	-		all_cancers(61;3.26e-12)|all_epithelial(67;6.09e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;0.000484)|Acute lymphoblastic leukemia(157;0.000967)|all_neural(223;0.0199)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)	111			PH.		A8K8C5|B0YIW7|B0YIW8|Q6RJU1|Q6RJU2|Q6RJU3|Q6RJU5|Q8IXS1	Missense_Mutation	SNP	ENST00000260283.4	37	c.332T>C	CCDS31673.1	.	.	.	.	.	.	.	.	.	.	A	13.95	2.389772	0.42410	.	.	ENSG00000137727	ENST00000260283;ENST00000357139;ENST00000524756;ENST00000528829;ENST00000533353;ENST00000527598	T;T;T;T;T;T	0.33438	1.41;1.41;1.41;1.41;1.41;1.41	5.61	5.61	0.85477	Pleckstrin homology-type (1);Pleckstrin homology domain (1);	0.529823	0.19256	N	0.118783	T	0.53514	0.1801	M	0.65975	2.015	0.54753	D	0.999981	D;D	0.76494	0.999;0.999	D;D	0.74348	0.961;0.983	T	0.55244	-0.8171	10	0.72032	D	0.01	.	13.7523	0.62915	1.0:0.0:0.0:0.0	.	111;88	Q9P2F6;Q9P2F6-3	RHG20_HUMAN;.	P	111;85;88;75;85;75	ENSP00000260283:L111P;ENSP00000349660:L85P;ENSP00000432076:L88P;ENSP00000436319:L75P;ENSP00000436522:L85P;ENSP00000431399:L75P	ENSP00000260283:L111P	L	-	2	0	ARHGAP20	110006582	1.000000	0.71417	0.996000	0.52242	0.041000	0.13682	5.110000	0.64622	2.138000	0.66242	0.454000	0.30748	CTG		0.398	ARHGAP20-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000390628.1	NM_020809		15	125	0	0	0	1	0	15	125				
SIGLEC1	6614	broad.mit.edu	37	20	3673573	3673573	+	Missense_Mutation	SNP	G	G	C			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr20:3673573G>C	ENST00000344754.4	-	14	3713	c.3714C>G	c.(3712-3714)ttC>ttG	p.F1238L	SIGLEC1_ENST00000202578.4_Missense_Mutation_p.F1238L	NM_023068.3	NP_075556.1	Q9BZZ2	SN_HUMAN	sialic acid binding Ig-like lectin 1, sialoadhesin	1238	Ig-like C2-type 12.				cell-matrix adhesion (GO:0007160)|endocytosis (GO:0006897)|inflammatory response (GO:0006954)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of T cell apoptotic process (GO:0070234)|single organismal cell-cell adhesion (GO:0016337)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)	70						AGCAGCTGTAGAAACCCTCAT	0.682																																						ENST00000344754.4																			0				NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(4)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|liver(2)|lung(24)|ovary(3)|pancreas(4)|prostate(3)|skin(8)|upper_aerodigestive_tract(1)	70						c.(3712-3714)ttC>ttG		sialic acid binding Ig-like lectin 1, sialoadhesin							30.0	32.0	32.0					20																	3673573		2203	4299	6502	SO:0001583	missense	6614				cell-cell adhesion|cell-matrix adhesion|endocytosis|inflammatory response	extracellular region|integral to membrane|plasma membrane	sugar binding	g.chr20:3673573G>C	AF230073	CCDS13060.1	20p13	2013-01-29	2006-01-19	2006-01-19	ENSG00000088827	ENSG00000088827		"""CD molecules"", ""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	11127	protein-coding gene	gene with protein product		600751	"""sialoadhesin"""	SN		8530048	Standard	XM_006723610		Approved	SIGLEC-1, CD169, FLJ00051, FLJ00055, FLJ00073, FLJ32150, dJ1009E24.1, sialoadhesin	uc002wja.3	Q9BZZ2	OTTHUMG00000031757	ENST00000344754.4:c.3714C>G	20.37:g.3673573G>C	ENSP00000341141:p.Phe1238Leu					SIGLEC1_ENST00000202578.4_Missense_Mutation_p.F1238L	p.F1238L	NM_023068.3	NP_075556.1	Q9BZZ2	SN_HUMAN			14	3713	-			1238			Ig-like C2-type 12.		Q96DL4|Q9GZS5|Q9H1H6|Q9H1H7|Q9H7L7	Missense_Mutation	SNP	ENST00000344754.4	37	c.3714C>G	CCDS13060.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	6.820|6.820	0.520486|0.520486	0.13005|0.13005	.|.	.|.	ENSG00000088827|ENSG00000088827	ENST00000344754;ENST00000202578|ENST00000419548	T;T|.	0.11385|.	2.78;2.78|.	4.98|4.98	1.81|1.81	0.25067|0.25067	Immunoglobulin subtype (1);Immunoglobulin-like fold (1);|.	0.457510|.	0.16374|.	N|.	0.217210|.	T|T	0.06050|0.06050	0.0157|0.0157	N|N	0.00174|0.00174	-1.93|-1.93	0.26342|0.26342	N|N	0.977345|0.977345	B;B|.	0.06786|.	0.001;0.001|.	B;B|.	0.04013|.	0.001;0.001|.	T|T	0.37798|0.37798	-0.9690|-0.9690	10|5	0.23891|.	T|.	0.37|.	.|.	6.7483|6.7483	0.23474|0.23474	0.0947:0.345:0.5603:0.0|0.0947:0.345:0.5603:0.0	.|.	1238;1238|.	Q9BZZ2;Q9BZZ2-3|.	SN_HUMAN;.|.	L|V	1238|52	ENSP00000341141:F1238L;ENSP00000202578:F1238L|.	ENSP00000202578:F1238L|.	F|L	-|-	3|1	2|2	SIGLEC1|SIGLEC1	3621573|3621573	0.001000|0.001000	0.12720|0.12720	0.996000|0.996000	0.52242|0.52242	0.832000|0.832000	0.47134|0.47134	-0.477000|-0.477000	0.06583|0.06583	0.240000|0.240000	0.21263|0.21263	0.655000|0.655000	0.94253|0.94253	TTC|CTA		0.682	SIGLEC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077761.2	NM_023068		33	84	0	0	0	1	0	33	84				
SLC6A2	6530	broad.mit.edu	37	16	55730200	55730200	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr16:55730200G>A	ENST00000379906.2	+	8	1466	c.1211G>A	c.(1210-1212)tGg>tAg	p.W404*	SLC6A2_ENST00000414754.3_Nonsense_Mutation_p.W404*|SLC6A2_ENST00000566163.1_Nonsense_Mutation_p.W359*|SLC6A2_ENST00000567238.1_Nonsense_Mutation_p.W299*|SLC6A2_ENST00000219833.8_Nonsense_Mutation_p.W404*|SLC6A2_ENST00000561820.1_Nonsense_Mutation_p.W404*|SLC6A2_ENST00000568943.1_Nonsense_Mutation_p.W404*	NM_001043.3	NP_001034.1	P23975	SC6A2_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 2	404					monoamine transport (GO:0015844)|norepinephrine transport (GO:0015874)|response to drug (GO:0042493)|response to pain (GO:0048265)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|membrane raft (GO:0045121)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)	monoamine transmembrane transporter activity (GO:0008504)|norepinephrine:sodium symporter activity (GO:0005334)			breast(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(20)|ovary(3)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(1)	41				BRCA - Breast invasive adenocarcinoma(181;0.01)|Kidney(780;0.0267)	Amitriptyline(DB00321)|Amoxapine(DB00543)|Amphetamine(DB00182)|Atomoxetine(DB00289)|Bupropion(DB01156)|Chlorphenamine(DB01114)|Citalopram(DB00215)|Clomipramine(DB01242)|Cocaine(DB00907)|Debrisoquin(DB04840)|Desipramine(DB01151)|Desvenlafaxine(DB06700)|Dexmethylphenidate(DB06701)|Dextroamphetamine(DB01576)|Dextromethorphan(DB00514)|Diethylpropion(DB00937)|Dopamine(DB00988)|Doxepin(DB01142)|Droxidopa(DB06262)|Duloxetine(DB00476)|Ephedra(DB01363)|Ephedrine(DB01364)|Ergotamine(DB00696)|Escitalopram(DB01175)|Ginkgo biloba(DB01381)|Guanadrel(DB00226)|Guanethidine(DB01170)|Imipramine(DB00458)|Iobenguane(DB06704)|Ketamine(DB01221)|Levomilnacipran(DB08918)|Levonordefrin(DB06707)|Loxapine(DB00408)|Maprotiline(DB00934)|Mazindol(DB00579)|Methamphetamine(DB01577)|Methylphenidate(DB00422)|Mianserin(DB06148)|Milnacipran(DB04896)|Mirtazapine(DB00370)|Nefazodone(DB01149)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Orphenadrine(DB01173)|Paroxetine(DB00715)|Pethidine(DB00454)|Phendimetrazine(DB01579)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Protriptyline(DB00344)|Pseudoephedrine(DB00852)|Reboxetine(DB00234)|Sibutramine(DB01105)|Tapentadol(DB06204)|Tramadol(DB00193)|Trimipramine(DB00726)|Venlafaxine(DB00285)	TCTACATTCTGGGCTGTTGTG	0.527																																						ENST00000379906.2																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(20)|ovary(3)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(1)	41						c.(1210-1212)tGg>tAg		solute carrier family 6 (neurotransmitter transporter), member 2	Amineptine(DB04836)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Atomoxetine(DB00289)|Bethanidine(DB00217)|Bupropion(DB01156)|Clomipramine(DB01242)|Cocaine(DB00907)|Debrisoquin(DB04840)|Desipramine(DB01151)|Diethylpropion(DB00937)|Doxepin(DB01142)|Duloxetine(DB00476)|Ergotamine(DB00696)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Imipramine(DB00458)|Maprotiline(DB00934)|Mazindol(DB00579)|Methylphenidate(DB00422)|Milnacipran(DB04896)|Nefazodone(DB01149)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Paroxetine(DB00715)|Phenmetrazine(DB00830)|Phentermine(DB00191)|Protriptyline(DB00344)|Reboxetine(DB00234)|Sibutramine(DB01105)|Tramadol(DB00193)|Trazodone(DB00656)|Trimipramine(DB00726)|Venlafaxine(DB00285)						263.0	220.0	235.0					16																	55730200		2198	4300	6498	SO:0001587	stop_gained	6530				synaptic transmission	integral to plasma membrane|membrane fraction	norepinephrine:sodium symporter activity	g.chr16:55730200G>A		CCDS10754.1, CCDS54011.1, CCDS58463.1	16q12.2	2013-07-19	2013-07-19		ENSG00000103546	ENSG00000103546		"""Solute carriers"""	11048	protein-coding gene	gene with protein product	"""norepinephrine transporter"""	163970	"""solute carrier family 6 (neurotransmitter transporter, noradrenalin), member 2"""	NET1, NAT1, SLC6A5		2008212	Standard	NM_001043		Approved	NET	uc021tio.1	P23975	OTTHUMG00000133208	ENST00000379906.2:c.1211G>A	16.37:g.55730200G>A	ENSP00000369237:p.Trp404*					SLC6A2_ENST00000561820.1_Nonsense_Mutation_p.W404*|SLC6A2_ENST00000414754.3_Nonsense_Mutation_p.W404*|SLC6A2_ENST00000568943.1_Nonsense_Mutation_p.W404*|SLC6A2_ENST00000567238.1_Nonsense_Mutation_p.W299*|SLC6A2_ENST00000219833.8_Nonsense_Mutation_p.W404*|SLC6A2_ENST00000566163.1_Nonsense_Mutation_p.W359*	p.W404*	NM_001043.3	NP_001034.1	P23975	SC6A2_HUMAN		BRCA - Breast invasive adenocarcinoma(181;0.01)|Kidney(780;0.0267)	8	1466	+			404					B2R707|B4DX48|Q96KH8	Nonsense_Mutation	SNP	ENST00000379906.2	37	c.1211G>A	CCDS10754.1	.	.	.	.	.	.	.	.	.	.	G	37	6.236169	0.97399	.	.	ENSG00000103546	ENST00000414754;ENST00000537705;ENST00000379906;ENST00000219833	.	.	.	4.2	4.2	0.49525	.	0.119948	0.64402	D	0.000010	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	15.7009	0.77541	0.0:0.0:1.0:0.0	.	.	.	.	X	404;118;404;404	.	ENSP00000219833:W404X	W	+	2	0	SLC6A2	54287701	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	5.638000	0.67861	2.064000	0.61679	0.655000	0.94253	TGG		0.527	SLC6A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256922.2			29	140	0	0	0	1	0	29	140				
OR10K2	391107	broad.mit.edu	37	1	158390470	158390470	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr1:158390470G>A	ENST00000314902.2	-	1	186	c.187C>T	c.(187-189)Ctt>Ttt	p.L63F		NM_001004476.1	NP_001004476.1	Q6IF99	O10K2_HUMAN	olfactory receptor, family 10, subfamily K, member 2	63						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(1)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(19)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36	all_hematologic(112;0.0378)					AGGATGGCAAGGAAGAAGTAC	0.488																																						ENST00000314902.2																			0				NS(1)|breast(1)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(19)|pancreas(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						c.(187-189)Ctt>Ttt		olfactory receptor, family 10, subfamily K, member 2							181.0	155.0	164.0					1																	158390470		2203	4300	6503	SO:0001583	missense	391107				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:158390470G>A	AB065642	CCDS30896.1	1q23.1	2012-08-09			ENSG00000180708	ENSG00000180708		"""GPCR / Class A : Olfactory receptors"""	14826	protein-coding gene	gene with protein product							Standard	NM_001004476		Approved		uc010pii.2	Q6IF99	OTTHUMG00000019638	ENST00000314902.2:c.187C>T	1.37:g.158390470G>A	ENSP00000324251:p.Leu63Phe						p.L63F	NM_001004476.1	NP_001004476.1	Q6IF99	O10K2_HUMAN			1	186	-	all_hematologic(112;0.0378)		63						Missense_Mutation	SNP	ENST00000314902.2	37	c.187C>T	CCDS30896.1	.	.	.	.	.	.	.	.	.	.	G	15.50	2.852409	0.51270	.	.	ENSG00000180708	ENST00000314902	T	0.14391	2.51	4.1	4.1	0.47936	GPCR, rhodopsin-like superfamily (1);	0.000000	0.38272	N	0.001748	T	0.47432	0.1445	H	0.99697	4.71	0.34294	D	0.683622	D	0.89917	1.0	D	0.91635	0.999	T	0.68127	-0.5491	10	0.87932	D	0	.	9.4209	0.38550	0.1017:0.0:0.8983:0.0	.	63	Q6IF99	O10K2_HUMAN	F	63	ENSP00000324251:L63F	ENSP00000324251:L63F	L	-	1	0	OR10K2	156657094	0.998000	0.40836	0.991000	0.47740	0.987000	0.75469	0.683000	0.25349	2.265000	0.75225	0.467000	0.42956	CTT		0.488	OR10K2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051854.1	NM_001004476		121	171	0	0	0	1	0	121	171				
RBM19	9904	broad.mit.edu	37	12	114386746	114386746	+	Missense_Mutation	SNP	C	C	A			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr12:114386746C>A	ENST00000545145.2	-	10	1246	c.1168G>T	c.(1168-1170)Ggg>Tgg	p.G390W	RBM19_ENST00000392561.3_Missense_Mutation_p.G390W|RBM19_ENST00000261741.5_Missense_Mutation_p.G390W	NM_001146699.1	NP_001140171.1	Q9Y4C8	RBM19_HUMAN	RNA binding motif protein 19	390					multicellular organismal development (GO:0007275)|positive regulation of embryonic development (GO:0040019)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.G390W(2)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(4)	55	Medulloblastoma(191;0.163)|all_neural(191;0.178)					TCGTTCTCCCCGAGTATCCGG	0.577																																						ENST00000545145.2																			2	Substitution - Missense(2)	p.G390W(2)	lung(2)	NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|skin(3)|stomach(4)	55						c.(1168-1170)Ggg>Tgg		RNA binding motif protein 19							190.0	184.0	186.0					12																	114386746		2203	4300	6503	SO:0001583	missense	9904				multicellular organismal development|positive regulation of embryonic development	chromosome|cytoplasm|nucleolus|nucleoplasm	nucleotide binding|RNA binding	g.chr12:114386746C>A	AL117547	CCDS9172.1	12q24.21	2013-02-12				ENSG00000122965		"""RNA binding motif (RRM) containing"""	29098	protein-coding gene	gene with protein product						9734811, 11230166	Standard	NM_016196		Approved	DKFZp586F1023, KIAA0682	uc009zwi.2	Q9Y4C8	OTTHUMG00000169646	ENST00000545145.2:c.1168G>T	12.37:g.114386746C>A	ENSP00000442053:p.Gly390Trp					RBM19_ENST00000392561.3_Missense_Mutation_p.G390W|RBM19_ENST00000261741.5_Missense_Mutation_p.G390W	p.G390W	NM_001146699.1	NP_001140171.1	Q9Y4C8	RBM19_HUMAN			10	1246	-	Medulloblastoma(191;0.163)|all_neural(191;0.178)		390					A8K5X9|Q9BPY6|Q9UFN5	Missense_Mutation	SNP	ENST00000545145.2	37	c.1168G>T	CCDS9172.1	.	.	.	.	.	.	.	.	.	.	C	13.36	2.213088	0.39102	.	.	ENSG00000122965	ENST00000545145;ENST00000392561;ENST00000261741	T;T;T	0.07114	3.22;3.22;3.22	4.33	2.12	0.27331	Nucleotide-binding, alpha-beta plait (1);	0.242933	0.40728	N	0.001039	T	0.15522	0.0374	L	0.47716	1.5	0.29969	N	0.818736	D	0.63880	0.993	D	0.64687	0.928	T	0.02031	-1.1226	10	0.72032	D	0.01	-28.3677	5.452	0.16570	0.0:0.5618:0.0:0.4382	.	390	Q9Y4C8	RBM19_HUMAN	W	390	ENSP00000442053:G390W;ENSP00000376344:G390W;ENSP00000261741:G390W	ENSP00000261741:G390W	G	-	1	0	RBM19	112871129	0.999000	0.42202	0.936000	0.37596	0.387000	0.30353	3.592000	0.53993	0.820000	0.34516	0.561000	0.74099	GGG		0.577	RBM19-003	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405251.1	NM_016196		137	243	1	0	2.42733e-55	1	3.50978e-55	137	243				
MAGI1	9223	broad.mit.edu	37	3	65376898	65376898	+	Missense_Mutation	SNP	C	C	G			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr3:65376898C>G	ENST00000497477.2	-	14	2334	c.2335G>C	c.(2335-2337)Gat>Cat	p.D779H	MAGI1_ENST00000330909.8_Missense_Mutation_p.D779H|MAGI1_ENST00000483466.1_Missense_Mutation_p.D779H|MAGI1_ENST00000402939.2_Missense_Mutation_p.D779H			Q96QZ7	MAGI1_HUMAN	membrane associated guanylate kinase, WW and PDZ domain containing 1	779					cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|neuron death (GO:0070997)|protein complex assembly (GO:0006461)	cell junction (GO:0030054)|cell projection (GO:0042995)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|tight junction (GO:0005923)	alpha-actinin binding (GO:0051393)|ATP binding (GO:0005524)|protein C-terminus binding (GO:0008022)			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|liver(1)|lung(21)|pancreas(1)|skin(5)	51		Lung NSC(201;0.0016)		BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133)		TCAGTTTGATCTGGAGCTTGG	0.552																																						ENST00000330909.8																			0				breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|liver(1)|lung(21)|pancreas(1)|skin(5)	51						c.(2335-2337)Gat>Cat		membrane associated guanylate kinase, WW and PDZ domain containing 1							112.0	105.0	107.0					3																	65376898		2203	4300	6503	SO:0001583	missense	9223				cell adhesion|cell surface receptor linked signaling pathway|protein complex assembly	tight junction	ATP binding|protein C-terminus binding	g.chr3:65376898C>G	AB010894	CCDS33780.1, CCDS33781.1, CCDS2904.1	3p14.1	2009-10-06	2005-05-10	2005-05-10	ENSG00000151276	ENSG00000151276			946	protein-coding gene	gene with protein product		602625	"""BAI1-associated protein 1"""	BAIAP1		9647739, 9225980	Standard	XM_005265563		Approved	BAP1, MAGI-1, TNRC19, AIP3, WWP3	uc003dmn.3	Q96QZ7	OTTHUMG00000157554	ENST00000497477.2:c.2335G>C	3.37:g.65376898C>G	ENSP00000424369:p.Asp779His					MAGI1_ENST00000483466.1_Missense_Mutation_p.D779H|MAGI1_ENST00000402939.2_Missense_Mutation_p.D779H|MAGI1_ENST00000497477.2_Missense_Mutation_p.D779H	p.D779H	NM_015520.1	NP_056335.1	Q96QZ7	MAGI1_HUMAN		BRCA - Breast invasive adenocarcinoma(55;0.00138)|KIRC - Kidney renal clear cell carcinoma(15;0.0988)|Kidney(15;0.133)	14	2334	-		Lung NSC(201;0.0016)	779					A8K188|O00309|O43863|O75085|Q96QZ8|Q96QZ9	Missense_Mutation	SNP	ENST00000497477.2	37	c.2335G>C		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.38|19.38	3.816927|3.816927	0.70912|0.70912	.|.	.|.	ENSG00000151276|ENSG00000151276	ENST00000402939;ENST00000330909;ENST00000422949;ENST00000463103;ENST00000483466;ENST00000497477;ENST00000472257|ENST00000460329	T;T;T;T;T;T|.	0.19394|.	2.72;2.27;2.27;2.27;2.15;2.29|.	5.98|5.98	5.98|5.98	0.97165|0.97165	.|.	0.210176|.	0.49916|.	D|.	0.000130|.	T|T	0.73133|0.73133	0.3548|0.3548	L|L	0.55990|0.55990	1.75|1.75	0.58432|0.58432	D|D	0.999998|0.999998	P;D;D;D;D|.	0.71674|.	0.847;0.994;0.998;0.995;0.98|.	P;P;D;P;P|.	0.66847|.	0.497;0.851;0.947;0.874;0.844|.	T|T	0.67526|0.67526	-0.5648|-0.5648	10|5	0.45353|.	T|.	0.12|.	-9.9692|-9.9692	20.5212|20.5212	0.99222|0.99222	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	779;779;779;779;779|.	A8K188;Q96QZ7-4;Q96QZ7-3;Q96QZ7-2;Q96QZ7-5|.	.;.;.;.;.|.	H|H	779;779;675;654;779;779;565|659	ENSP00000385450:D779H;ENSP00000331157:D779H;ENSP00000418177:D654H;ENSP00000420323:D779H;ENSP00000424369:D779H;ENSP00000420796:D565H|.	ENSP00000331157:D779H|.	D|Q	-|-	1|3	0|2	MAGI1|MAGI1	65351938|65351938	1.000000|1.000000	0.71417|0.71417	0.932000|0.932000	0.37286|0.37286	0.987000|0.987000	0.75469|0.75469	4.521000|4.521000	0.60532|0.60532	2.861000|2.861000	0.98227|0.98227	0.650000|0.650000	0.86243|0.86243	GAT|CAG		0.552	MAGI1-007	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000349132.2	NM_004742		50	121	0	0	0	1	0	50	121				
ZNF808	388558	broad.mit.edu	37	19	53058525	53058525	+	Missense_Mutation	SNP	A	A	G			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr19:53058525A>G	ENST00000359798.4	+	5	2536	c.2356A>G	c.(2356-2358)Act>Gct	p.T786A		NM_001039886.3	NP_001034975.2	Q8N4W9	ZN808_HUMAN	zinc finger protein 808	786					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(8)|kidney(3)|lung(12)|urinary_tract(1)	24				OV - Ovarian serous cystadenocarcinoma(262;0.00501)|GBM - Glioblastoma multiforme(134;0.0213)		TAGACTTCATACTGGAGAGAA	0.423																																						ENST00000359798.4																			0				endometrium(8)|kidney(3)|lung(12)|urinary_tract(1)	24						c.(2356-2358)Act>Gct		zinc finger protein 808							185.0	189.0	188.0					19																	53058525		2203	4300	6503	SO:0001583	missense	388558				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53058525A>G	CR749856	CCDS46167.1	19q13.41	2013-01-08			ENSG00000198482	ENSG00000198482		"""Zinc fingers, C2H2-type"", ""-"""	33230	protein-coding gene	gene with protein product							Standard	NM_001039886		Approved		uc010epq.1	Q8N4W9	OTTHUMG00000158230	ENST00000359798.4:c.2356A>G	19.37:g.53058525A>G	ENSP00000352846:p.Thr786Ala						p.T786A	NM_001039886.3	NP_001034975.2	Q8N4W9	ZN808_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00501)|GBM - Glioblastoma multiforme(134;0.0213)	5	2536	+			786					Q68CN7	Missense_Mutation	SNP	ENST00000359798.4	37	c.2356A>G	CCDS46167.1	.	.	.	.	.	.	.	.	.	.	.	10.78	1.445470	0.25987	.	.	ENSG00000198482	ENST00000359798	T	0.26518	1.73	1.74	-1.32	0.09201	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.24198	0.0586	L	0.31294	0.92	0.09310	N	0.999998	P	0.47962	0.903	P	0.51999	0.687	T	0.16808	-1.0390	9	0.54805	T	0.06	.	5.8303	0.18577	0.5804:0.0:0.0:0.4196	.	786	Q8N4W9	ZN808_HUMAN	A	786	ENSP00000352846:T786A	ENSP00000352846:T786A	T	+	1	0	ZNF808	57750337	0.000000	0.05858	0.000000	0.03702	0.014000	0.08584	0.179000	0.16840	-0.668000	0.05296	0.402000	0.26972	ACT		0.423	ZNF808-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350447.3	NM_001039886		410	287	0	0	0	1	0	410	287				
FAM66D	100132923	broad.mit.edu	37	8	11985965	11985965	+	RNA	SNP	T	T	A			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr8:11985965T>A	ENST00000434078.2	+	0	608					NR_027425.1				family with sequence similarity 66, member D																		GAGAATCTCTTCAAGACAAGG	0.493																																						ENST00000434078.2																			0																																																			100132923							g.chr8:11985965T>A			8p23.1	2013-07-05			ENSG00000255052	ENSG00000255052		"""Long non-coding RNAs"""	24159	non-coding RNA	RNA, long non-coding							Standard	NR_027425		Approved				OTTHUMG00000165269		8.37:g.11985965T>A								NR_027425.1						0	608	+									RNA	SNP	ENST00000434078.2	37																																																																																						0.493	FAM66D-201	KNOWN	basic	antisense	antisense		NR_027425		14	278	0	0	0	1	0	14	278				
LARP1	23367	broad.mit.edu	37	5	154193517	154193517	+	Missense_Mutation	SNP	G	G	T			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr5:154193517G>T	ENST00000336314.4	+	19	2945	c.2921G>T	c.(2920-2922)aGg>aTg	p.R974M		NM_015315.3	NP_056130.2	Q6PKG0	LARP1_HUMAN	La ribonucleoprotein domain family, member 1	1051					cell proliferation (GO:0008283)|positive regulation of macroautophagy (GO:0016239)|positive regulation of translation (GO:0045727)|TOR signaling (GO:0031929)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	eukaryotic initiation factor 4E binding (GO:0008190)|mRNA 3'-UTR binding (GO:0003730)|mRNA 5'-UTR binding (GO:0048027)|poly(A) RNA binding (GO:0044822)|RNA cap binding (GO:0000339)|translation activator activity (GO:0008494)|translation initiation factor binding (GO:0031369)			breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	33	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			GGTGAGGGCAGGAAGCGGTGC	0.642																																						ENST00000336314.4																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	33						c.(2920-2922)aGg>aTg		La ribonucleoprotein domain family, member 1							67.0	64.0	65.0					5																	154193517		2203	4300	6503	SO:0001583	missense	23367						protein binding|RNA binding	g.chr5:154193517G>T	AB018274	CCDS4328.1	5q33.2	2014-02-12			ENSG00000155506	ENSG00000155506		"""La ribonucleoprotein domain containing"""	29531	protein-coding gene	gene with protein product		612059				9872452, 10878606	Standard	NM_015315		Approved	LARP, KIAA0731, MGC19556	uc003lvo.4	Q6PKG0	OTTHUMG00000130191	ENST00000336314.4:c.2921G>T	5.37:g.154193517G>T	ENSP00000336721:p.Arg974Met						p.R974M	NM_015315.3	NP_056130.2	Q6PKG0	LARP1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)		19	2945	+	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	1051					O94836|Q8N4M2|Q8NB73|Q9UFD7	Missense_Mutation	SNP	ENST00000336314.4	37	c.2921G>T	CCDS4328.1	.	.	.	.	.	.	.	.	.	.	G	17.03	3.284142	0.59867	.	.	ENSG00000155506	ENST00000336314	T	0.32023	1.47	5.05	5.05	0.67936	.	0.000000	0.85682	D	0.000000	T	0.56906	0.2017	M	0.76574	2.34	0.58432	D	0.999999	D;D	0.89917	1.0;0.999	D;D	0.69654	0.948;0.965	T	0.62072	-0.6931	10	0.72032	D	0.01	-19.8559	18.416	0.90570	0.0:0.0:1.0:0.0	.	1051;974	Q6PKG0;Q6PKG0-3	LARP1_HUMAN;.	M	974	ENSP00000336721:R974M	ENSP00000336721:R974M	R	+	2	0	LARP1	154173710	1.000000	0.71417	1.000000	0.80357	0.554000	0.35429	7.803000	0.85983	2.358000	0.79984	0.462000	0.41574	AGG		0.642	LARP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252509.1	NM_033551		94	124	1	0	1.31969e-37	1	1.80456e-37	94	124				
DNMT3B	1789	broad.mit.edu	37	20	31374396	31374396	+	Missense_Mutation	SNP	A	A	G			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr20:31374396A>G	ENST00000328111.2	+	5	716	c.395A>G	c.(394-396)cAt>cGt	p.H132R	DNMT3B_ENST00000201963.3_Missense_Mutation_p.H144R|DNMT3B_ENST00000348286.2_Missense_Mutation_p.H132R|DNMT3B_ENST00000353855.2_Missense_Mutation_p.H132R|DNMT3B_ENST00000375623.4_Intron|DNMT3B_ENST00000443239.3_Intron|DNMT3B_ENST00000456297.2_Intron|DNMT3B_ENST00000344505.4_Missense_Mutation_p.H132R	NM_006892.3	NP_008823.1	Q9UBC3	DNM3B_HUMAN	DNA (cytosine-5-)-methyltransferase 3 beta	132	Interaction with DNMT1 and DNMT3A.				C-5 methylation of cytosine (GO:0090116)|cellular response to amino acid stimulus (GO:0071230)|DNA methylation (GO:0006306)|DNA methylation involved in embryo development (GO:0043045)|DNA methylation on cytosine within a CG sequence (GO:0010424)|methylation-dependent chromatin silencing (GO:0006346)|negative regulation of histone H3-K9 methylation (GO:0051573)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of gene expression (GO:0010628)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of neuron differentiation (GO:0045666)|protein complex localization (GO:0031503)|regulation of gene expression by genetic imprinting (GO:0006349)|response to drug (GO:0042493)|response to ionizing radiation (GO:0010212)|S-adenosylhomocysteine metabolic process (GO:0046498)|S-adenosylmethioninamine metabolic process (GO:0046499)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nuclear heterochromatin (GO:0005720)|nucleus (GO:0005634)	DNA (cytosine-5-)-methyltransferase activity (GO:0003886)|DNA (cytosine-5-)-methyltransferase activity, acting on CpG substrates (GO:0051718)|DNA-methyltransferase activity (GO:0009008)|metal ion binding (GO:0046872)|transcription corepressor activity (GO:0003714)|unmethylated CpG binding (GO:0045322)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(16)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						GGCCGCAACCATGTGGACGAG	0.617																																						ENST00000328111.2																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(16)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						c.(394-396)cAt>cGt		DNA (cytosine-5-)-methyltransferase 3 beta							64.0	62.0	62.0					20																	31374396		2203	4300	6503	SO:0001583	missense	1789				negative regulation of histone H3-K9 methylation|positive regulation of gene expression|positive regulation of histone H3-K4 methylation		metal ion binding|protein binding|transcription corepressor activity	g.chr20:31374396A>G		CCDS13204.1, CCDS13205.1, CCDS13206.1, CCDS13207.1, CCDS56183.1, CCDS56184.1	20q11.2	2014-09-17			ENSG00000088305	ENSG00000088305			2979	protein-coding gene	gene with protein product		602900				9662389, 10433969	Standard	NM_006892		Approved		uc002wyc.3	Q9UBC3	OTTHUMG00000032226	ENST00000328111.2:c.395A>G	20.37:g.31374396A>G	ENSP00000328547:p.His132Arg					DNMT3B_ENST00000201963.3_Missense_Mutation_p.H144R|DNMT3B_ENST00000375623.4_Intron|DNMT3B_ENST00000348286.2_Missense_Mutation_p.H132R|DNMT3B_ENST00000344505.4_Missense_Mutation_p.H132R|DNMT3B_ENST00000443239.3_Intron|DNMT3B_ENST00000456297.2_Intron|DNMT3B_ENST00000353855.2_Missense_Mutation_p.H132R	p.H132R	NM_006892.3	NP_008823.1	Q9UBC3	DNM3B_HUMAN			5	716	+			132			Interaction with DNMT1 and DNMT3A.		A2A2E2|B4DSM8|B4DSU1|E1P5M6|E1P5M7|E7EN63|E9PBF2|Q9UBD4|Q9UJQ5|Q9UKA6|Q9UNE5|Q9Y5R9|Q9Y5S0	Missense_Mutation	SNP	ENST00000328111.2	37	c.395A>G	CCDS13205.1	.	.	.	.	.	.	.	.	.	.	A	4.151	0.026506	0.08054	.	.	ENSG00000088305	ENST00000328111;ENST00000537219;ENST00000353855;ENST00000348286;ENST00000344505;ENST00000201963	D;D;D;D;D	0.97303	-4.27;-4.32;-4.27;-4.15;-4.33	4.11	1.73	0.24493	.	0.791459	0.12291	N	0.482001	D	0.90779	0.7105	N	0.19112	0.55	0.09310	N	0.999999	B;B;B;B	0.34015	0.185;0.435;0.082;0.112	B;B;B;B	0.30572	0.031;0.117;0.031;0.033	T	0.82112	-0.0618	10	0.10636	T	0.68	-11.4059	8.2609	0.31783	0.5992:0.4008:0.0:0.0	.	144;132;132;132	Q9UBC3-6;Q9UBC3-3;Q9UBC3-2;Q9UBC3	.;.;.;DNM3B_HUMAN	R	132;218;132;132;132;144	ENSP00000328547:H132R;ENSP00000313397:H132R;ENSP00000337764:H132R;ENSP00000345105:H132R;ENSP00000201963:H144R	ENSP00000201963:H144R	H	+	2	0	DNMT3B	30838057	0.005000	0.15991	0.002000	0.10522	0.001000	0.01503	0.617000	0.24359	0.345000	0.23873	0.533000	0.62120	CAT		0.617	DNMT3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078643.2	NM_006892		62	151	0	0	0	1	0	62	151				
TRPA1	8989	broad.mit.edu	37	8	72948639	72948639	+	Silent	SNP	C	C	A			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr8:72948639C>A	ENST00000262209.4	-	21	2646	c.2439G>T	c.(2437-2439)acG>acT	p.T813T	RP11-383H13.1_ENST00000457356.4_Intron|RP11-383H13.1_ENST00000537896.1_Intron|RP11-383H13.1_ENST00000524152.1_Intron|TRPA1_ENST00000519720.1_5'UTR	NM_007332.2	NP_015628.2	O75762	TRPA1_HUMAN	transient receptor potential cation channel, subfamily A, member 1	813					calcium ion transmembrane transport (GO:0070588)|detection of chemical stimulus involved in sensory perception of pain (GO:0050968)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|response to cold (GO:0009409)|response to drug (GO:0042493)|response to hydrogen peroxide (GO:0042542)|response to pain (GO:0048265)|thermoception (GO:0050955)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|stereocilium bundle (GO:0032421)	calcium channel activity (GO:0005262)|channel activity (GO:0015267)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(26)|lung(44)|ovary(4)|prostate(6)|stomach(1)	98			Epithelial(68;0.223)		Menthol(DB00825)	TGATGCCCGTCGTGTAGATAA	0.358																																						ENST00000262209.4																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(26)|lung(44)|ovary(4)|prostate(6)|stomach(1)	98						c.(2437-2439)acG>acT		transient receptor potential cation channel, subfamily A, member 1	Menthol(DB00825)						60.0	60.0	60.0					8																	72948639		2203	4300	6503	SO:0001819	synonymous_variant	8989					integral to plasma membrane		g.chr8:72948639C>A	Y10601	CCDS34908.1	8q13	2013-01-10	2003-11-20	2003-11-20	ENSG00000104321	ENSG00000104321		"""Voltage-gated ion channels / Transient receptor potential cation channels"", ""Ankyrin repeat domain containing"""	497	protein-coding gene	gene with protein product		604775	"""ankyrin-like with transmembrane domains 1"""	ANKTM1		16382100	Standard	NM_007332		Approved		uc003xza.3	O75762	OTTHUMG00000164516	ENST00000262209.4:c.2439G>T	8.37:g.72948639C>A						RP11-383H13.1_ENST00000537896.1_Intron|TRPA1_ENST00000519720.1_5'UTR|RP11-383H13.1_ENST00000524152.1_Intron|RP11-383H13.1_ENST00000457356.4_Intron	p.T813T	NM_007332.2	NP_015628.2	O75762	TRPA1_HUMAN	Epithelial(68;0.223)		21	2646	-			813					A6NIN6	Silent	SNP	ENST00000262209.4	37	c.2439G>T	CCDS34908.1																																																																																				0.358	TRPA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379079.2	NM_007332		42	102	1	0	1.57019e-19	1	1.94795e-19	42	102				
PARS2	25973	broad.mit.edu	37	1	55223963	55223963	+	Missense_Mutation	SNP	T	T	C			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr1:55223963T>C	ENST00000371279.3	-	2	954	c.872A>G	c.(871-873)aAc>aGc	p.N291S		NM_152268.3	NP_689481.2	Q7L3T8	SYPM_HUMAN	prolyl-tRNA synthetase 2, mitochondrial (putative)	291					gene expression (GO:0010467)|prolyl-tRNA aminoacylation (GO:0006433)|tRNA aminoacylation for protein translation (GO:0006418)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|proline-tRNA ligase activity (GO:0004827)			breast(1)|endometrium(3)|kidney(2)|lung(4)|ovary(2)|prostate(2)|skin(1)	15					L-Proline(DB00172)	AGCAGGGCAGTTCATTTGTGA	0.522																																						ENST00000371279.3																			0				breast(1)|endometrium(3)|kidney(2)|lung(4)|ovary(2)|prostate(2)|skin(1)	15						c.(871-873)aAc>aGc		prolyl-tRNA synthetase 2, mitochondrial (putative)	L-Proline(DB00172)						108.0	102.0	104.0					1																	55223963		2203	4300	6503	SO:0001583	missense	25973				prolyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|proline-tRNA ligase activity	g.chr1:55223963T>C	AK025585	CCDS597.1	1p32.2	2011-07-01	2007-02-23		ENSG00000162396	ENSG00000162396	6.1.1.15	"""Aminoacyl tRNA synthetases / Class II"""	30563	protein-coding gene	gene with protein product	"""proline tRNA ligase 2, mitochondrial (putative)"""	612036				15779907	Standard	NM_152268		Approved	DKFZp727A071	uc001cxy.3	Q7L3T8	OTTHUMG00000009915	ENST00000371279.3:c.872A>G	1.37:g.55223963T>C	ENSP00000360327:p.Asn291Ser						p.N291S	NM_152268.3	NP_689481.2	Q7L3T8	SYPM_HUMAN			2	954	-			291					A8K0W4|Q9H6S5|Q9UFT1	Missense_Mutation	SNP	ENST00000371279.3	37	c.872A>G	CCDS597.1	.	.	.	.	.	.	.	.	.	.	T	0.007	-1.996070	0.00435	.	.	ENSG00000162396	ENST00000371279	T	0.29397	1.57	5.66	-4.54	0.03452	Aminoacyl-tRNA synthetase, class II (1);	0.730548	0.13565	N	0.378520	T	0.11707	0.0285	N	0.20530	0.585	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.34551	-0.9824	10	0.08599	T	0.76	-4.0623	3.8886	0.09110	0.0978:0.4045:0.1991:0.2986	.	291	Q7L3T8	SYPM_HUMAN	S	291	ENSP00000360327:N291S	ENSP00000360327:N291S	N	-	2	0	PARS2	54996551	0.004000	0.15560	0.027000	0.17364	0.065000	0.16274	0.406000	0.21032	-0.445000	0.07159	0.533000	0.62120	AAC		0.522	PARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027436.1	NM_152268		53	226	0	0	0	1	0	53	226				
LRRC4C	57689	broad.mit.edu	37	11	40136523	40136523	+	Silent	SNP	G	G	T			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr11:40136523G>T	ENST00000278198.2	-	2	3283	c.1320C>A	c.(1318-1320)acC>acA	p.T440T	LRRC4C_ENST00000528697.1_Silent_p.T440T|LRRC4C_ENST00000530763.1_Silent_p.T440T|LRRC4C_ENST00000527150.1_Silent_p.T440T			Q9HCJ2	LRC4C_HUMAN	leucine rich repeat containing 4C	440	Ig-like C2-type.				regulation of axonogenesis (GO:0050770)	cell junction (GO:0030054)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|postsynaptic membrane (GO:0045211)				NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	86		all_lung(304;0.0575)|Lung NSC(402;0.138)				TAACATTCAGGGTGGCTGAAG	0.443																																						ENST00000278198.2																			0				NS(2)|central_nervous_system(3)|endometrium(1)|large_intestine(14)|lung(43)|ovary(5)|prostate(2)|skin(9)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	86						c.(1318-1320)acC>acA		leucine rich repeat containing 4C							176.0	161.0	166.0					11																	40136523		2203	4300	6503	SO:0001819	synonymous_variant	57689				regulation of axonogenesis	integral to membrane	protein binding	g.chr11:40136523G>T	AB046800	CCDS31464.1	11p12	2013-01-14				ENSG00000148948		"""Immunoglobulin superfamily / I-set domain containing"""	29317	protein-coding gene	gene with protein product		608817				14595443	Standard	NM_020929		Approved	KIAA1580, NGL-1	uc031pzu.1	Q9HCJ2		ENST00000278198.2:c.1320C>A	11.37:g.40136523G>T						LRRC4C_ENST00000530763.1_Silent_p.T440T|LRRC4C_ENST00000528697.1_Silent_p.T440T|LRRC4C_ENST00000527150.1_Silent_p.T440T	p.T440T			Q9HCJ2	LRC4C_HUMAN			2	3283	-		all_lung(304;0.0575)|Lung NSC(402;0.138)	440			Ig-like C2-type.		A8K0T1|Q7L0N3	Silent	SNP	ENST00000278198.2	37	c.1320C>A	CCDS31464.1																																																																																				0.443	LRRC4C-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389499.1	NM_020929		113	125	1	0	6.25226e-48	1	8.83157e-48	113	125				
ZNF423	23090	broad.mit.edu	37	16	49671630	49671630	+	Missense_Mutation	SNP	G	G	C			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr16:49671630G>C	ENST00000561648.1	-	4	1486	c.1433C>G	c.(1432-1434)tCt>tGt	p.S478C	ZNF423_ENST00000567169.1_Missense_Mutation_p.S361C|ZNF423_ENST00000562871.1_Missense_Mutation_p.S418C|ZNF423_ENST00000535559.1_Missense_Mutation_p.S361C|ZNF423_ENST00000562520.1_Missense_Mutation_p.S418C|ZNF423_ENST00000563137.2_Missense_Mutation_p.S418C|ZNF423_ENST00000262383.2_Missense_Mutation_p.S478C	NM_001271620.1	NP_001258549.1	Q2M1K9	ZN423_HUMAN	zinc finger protein 423	478					cell differentiation (GO:0030154)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|Notch signaling pathway (GO:0007219)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(16)|lung(47)|ovary(1)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	89		all_cancers(37;0.0155)				GTGGAAGGCAGAGATGTTGCC	0.582																																						ENST00000561648.1																			0				breast(1)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(16)|lung(47)|ovary(1)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	89						c.(1432-1434)tCt>tGt		zinc finger protein 423							136.0	112.0	120.0					16																	49671630		2198	4300	6498	SO:0001583	missense	23090				cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	g.chr16:49671630G>C	AB018303	CCDS32445.1, CCDS61930.1	16q12	2014-01-28				ENSG00000102935		"""Zinc fingers, C2H2-type"""	16762	protein-coding gene	gene with protein product	"""OLF-1/EBF associated zinc finger gene"", "" Smad- and Olf-interacting zinc finger protein"", ""early B-cell factor associated zinc finger protein"""	604557				9872452, 10660046	Standard	NM_001271620		Approved	KIAA0760, OAZ, Roaz, Ebfaz, Zfp104, NPHP14, JBTS19	uc031qwd.1	Q2M1K9		ENST00000561648.1:c.1433C>G	16.37:g.49671630G>C	ENSP00000455426:p.Ser478Cys					ZNF423_ENST00000562871.1_Missense_Mutation_p.S418C|ZNF423_ENST00000562520.1_Missense_Mutation_p.S418C|ZNF423_ENST00000262383.2_Missense_Mutation_p.S478C|ZNF423_ENST00000535559.1_Missense_Mutation_p.S361C|ZNF423_ENST00000563137.2_Missense_Mutation_p.S418C|ZNF423_ENST00000567169.1_Missense_Mutation_p.S361C	p.S478C	NM_001271620.1	NP_001258549.1	Q2M1K9	ZN423_HUMAN			4	1486	-		all_cancers(37;0.0155)	478					O94860|Q76N04|Q9NZ13	Missense_Mutation	SNP	ENST00000561648.1	37	c.1433C>G	CCDS32445.1	.	.	.	.	.	.	.	.	.	.	G	12.65	2.001978	0.35320	.	.	ENSG00000102935	ENST00000262383;ENST00000535559	T;T	0.09350	2.99;3.05	4.96	4.96	0.65561	.	0.175658	0.51477	D	0.000087	T	0.08268	0.0206	N	0.14661	0.345	0.43703	D	0.996163	P	0.41159	0.74	B	0.39068	0.289	T	0.42224	-0.9464	9	.	.	.	.	18.2176	0.89892	0.0:0.0:1.0:0.0	.	478	Q2M1K9	ZN423_HUMAN	C	478;361	ENSP00000262383:S478C;ENSP00000442321:S361C	.	S	-	2	0	ZNF423	48229131	1.000000	0.71417	0.999000	0.59377	0.887000	0.51463	9.869000	0.99810	2.298000	0.77334	0.561000	0.74099	TCT		0.582	ZNF423-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000423258.1	NM_015069		38	137	0	0	0	1	0	38	137				
ABCB5	340273	broad.mit.edu	37	7	20682807	20682807	+	Splice_Site	SNP	G	G	A			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr7:20682807G>A	ENST00000404938.2	+	6	967	c.315G>A	c.(313-315)ctG>ctA	p.L105L		NM_001163941.1	NP_001157413.1	Q2M3G0	ABCB5_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 5	105	ABC transmembrane type-1 1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-dependent (GO:0002485)|antigen processing and presentation of endogenous peptide antigen via MHC class Ib via ER pathway, TAP-dependent (GO:0002489)|antigen processing and presentation of exogenous protein antigen via MHC class Ib, TAP-dependent (GO:0002481)|cell differentiation (GO:0030154)|compound eye corneal lens development (GO:0048058)|positive regulation of antigen processing and presentation of peptide antigen via MHC class I (GO:0002591)|regulation of membrane potential (GO:0042391)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|efflux transmembrane transporter activity (GO:0015562)			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)	77						CTTTCTTCAGGTTGACCCTGT	0.363																																						ENST00000404938.2																			0				breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)	77						c.e6-1		ATP-binding cassette, sub-family B (MDR/TAP), member 5							62.0	51.0	54.0					7																	20682807		1568	3582	5150	SO:0001630	splice_region_variant	340273				regulation of membrane potential	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus	ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity	g.chr7:20682807G>A	U66692	CCDS5371.1, CCDS55090.1, CCDS55091.1, CCDS55092.1	7p14	2012-03-14			ENSG00000004846	ENSG00000004846		"""ATP binding cassette transporters / subfamily B"""	46	protein-coding gene	gene with protein product	"""P-glycoprotein ABCB5"", ""ATP-binding cassette protein"""	611785				8894702, 12960149	Standard	NM_001163942		Approved	EST422562, ABCB5beta, ABCB5alpha	uc010kuh.3	Q2M3G0	OTTHUMG00000094789	ENST00000404938.2:c.315-1G>A	7.37:g.20682807G>A							p.L105_splice	NM_001163941.1	NP_001157413.1	Q2M3G0	ABCB5_HUMAN			6	967	+			289			ABC transporter 1.		A4D131|A7BKA4|B5MD19|B7WPL1|F8QQP8|F8QQP9|J3KQ04|Q2M3I5|Q5I5Q7|Q5I5Q8|Q6KG50|Q6XFQ5|Q8IXA1	Splice_Site	SNP	ENST00000404938.2	37	c.314_splice	CCDS55090.1																																																																																				0.363	ABCB5-004	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000326736.2	NM_178559	Silent	10	16	0	0	0	1	0	10	16				
DNAJC21	134218	broad.mit.edu	37	5	34936260	34936260	+	Silent	SNP	G	G	C	rs147400420	byFrequency	TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr5:34936260G>C	ENST00000342382.4	+	4	554	c.327G>C	c.(325-327)acG>acC	p.T109T	DNAJC21_ENST00000303525.7_Silent_p.T109T|DNAJC21_ENST00000382021.2_Silent_p.T109T			Q5F1R6	DJC21_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 21	109					protein folding (GO:0006457)	ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.T109T(1)		breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|skin(2)|upper_aerodigestive_tract(1)	21	all_lung(31;7.08e-05)		COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)			GATTTTACACGGTGTATCGTA	0.318																																						ENST00000382021.2																			1	Substitution - coding silent(1)	p.T109T(1)	lung(1)	breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|skin(2)|upper_aerodigestive_tract(1)	21						c.(325-327)acG>acC		DnaJ (Hsp40) homolog, subfamily C, member 21							136.0	145.0	142.0					5																	34936260		2203	4300	6503	SO:0001819	synonymous_variant	134218				protein folding	ribosome	heat shock protein binding|nucleic acid binding|unfolded protein binding|zinc ion binding	g.chr5:34936260G>C		CCDS3907.2, CCDS34144.1	5p13-p12	2012-10-05			ENSG00000168724	ENSG00000168724		"""Heat shock proteins / DNAJ (HSP40)"""	27030	protein-coding gene	gene with protein product	"""JJJ1 DnaJ domain protein homolog (S. cerevisiae)"""					15067379	Standard	XM_005248250		Approved	GS3, DNAJA5, JJJ1	uc003jjc.3	Q5F1R6	OTTHUMG00000074103	ENST00000342382.4:c.327G>C	5.37:g.34936260G>C						DNAJC21_ENST00000342382.4_Silent_p.T109T|DNAJC21_ENST00000303525.7_Silent_p.T109T	p.T109T	NM_194283.3	NP_919259.3	Q5F1R6	DJC21_HUMAN	COAD - Colon adenocarcinoma(61;0.174)|Colorectal(62;0.229)		4	554	+	all_lung(31;7.08e-05)		109					Q3B7J9|Q6P086|Q6ZS43|Q86VC6	Silent	SNP	ENST00000342382.4	37	c.327G>C	CCDS34144.1																																																																																				0.318	DNAJC21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157337.1	NM_194283		71	123	0	0	0	1	0	71	123				
EPB41L3	23136	broad.mit.edu	37	18	5394711	5394711	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr18:5394711C>A	ENST00000341928.2	-	22	3575	c.3235G>T	c.(3235-3237)Gag>Tag	p.E1079*	EPB41L3_ENST00000400111.3_Nonsense_Mutation_p.E857*|EPB41L3_ENST00000542652.2_5'UTR|EPB41L3_ENST00000342933.3_Nonsense_Mutation_p.E1079*|EPB41L3_ENST00000540638.2_Nonsense_Mutation_p.E857*|EPB41L3_ENST00000542146.1_Nonsense_Mutation_p.E384*|EPB41L3_ENST00000427684.2_Nonsense_Mutation_p.E376*|EPB41L3_ENST00000544123.1_Intron	NM_012307.2	NP_036439.2	Q9Y2J2	E41L3_HUMAN	erythrocyte membrane protein band 4.1-like 3	1079	C-terminal (CTD).				apoptotic process (GO:0006915)|cortical actin cytoskeleton organization (GO:0030866)|cortical cytoskeleton organization (GO:0030865)|cytoskeletal anchoring at plasma membrane (GO:0007016)|myelin maintenance (GO:0043217)|neuron projection morphogenesis (GO:0048812)|paranodal junction assembly (GO:0030913)|protein localization to juxtaparanode region of axon (GO:0071205)|protein localization to paranode region of axon (GO:0002175)|protein localization to plasma membrane (GO:0072659)|regulation of cell shape (GO:0008360)	axolemma (GO:0030673)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)|juxtaparanode region of axon (GO:0044224)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)	structural constituent of cytoskeleton (GO:0005200)			breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						GGTGTGATCTCTGTCTCTTTA	0.527																																						ENST00000341928.2																			0				breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(24)|lung(52)|ovary(5)|prostate(4)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	105						c.(3235-3237)Gag>Tag		erythrocyte membrane protein band 4.1-like 3							261.0	191.0	215.0					18																	5394711		2203	4300	6503	SO:0001587	stop_gained	23136				cortical actin cytoskeleton organization	cell-cell junction|cytoplasm|cytoskeleton|extrinsic to membrane	actin binding|structural molecule activity	g.chr18:5394711C>A	AB023204	CCDS11838.1, CCDS62381.1, CCDS62382.1	18p11.32	2006-06-28			ENSG00000082397	ENSG00000082397			3380	protein-coding gene	gene with protein product		605331				9828140, 9892180	Standard	NM_012307		Approved	DAL1, KIAA0987, 4.1B	uc002kmt.1	Q9Y2J2	OTTHUMG00000131562	ENST00000341928.2:c.3235G>T	18.37:g.5394711C>A	ENSP00000343158:p.Glu1079*					EPB41L3_ENST00000427684.2_Nonsense_Mutation_p.E376*|EPB41L3_ENST00000544123.1_Intron|EPB41L3_ENST00000540638.2_Nonsense_Mutation_p.E857*|EPB41L3_ENST00000400111.3_Nonsense_Mutation_p.E857*|EPB41L3_ENST00000342933.3_Nonsense_Mutation_p.E1079*|EPB41L3_ENST00000542652.2_5'UTR|EPB41L3_ENST00000542146.1_Nonsense_Mutation_p.E384*	p.E1079*	NM_012307.2	NP_036439.2	Q9Y2J2	E41L3_HUMAN			22	3575	-			1079			Carboxyl-terminal (CTD).		B7Z4I5|F5GX05|O95713|Q9BRP5	Nonsense_Mutation	SNP	ENST00000341928.2	37	c.3235G>T	CCDS11838.1	.	.	.	.	.	.	.	.	.	.	C	43	10.321577	0.99382	.	.	ENSG00000082397	ENST00000341928;ENST00000540638;ENST00000545076;ENST00000427684;ENST00000542146;ENST00000342933;ENST00000400111	.	.	.	5.82	5.82	0.92795	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	20.0953	0.97838	0.0:1.0:0.0:0.0	.	.	.	.	X	1079;748;748;376;384;1079;857	.	ENSP00000343158:E1079X	E	-	1	0	EPB41L3	5384711	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.770000	0.85390	2.767000	0.95098	0.655000	0.94253	GAG		0.527	EPB41L3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254424.1	NM_012307		88	113	1	0	4.7146e-34	1	6.36545e-34	88	113				
MEGF10	84466	broad.mit.edu	37	5	126753372	126753372	+	Missense_Mutation	SNP	G	G	C			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr5:126753372G>C	ENST00000274473.6	+	11	1440	c.1173G>C	c.(1171-1173)tgG>tgC	p.W391C	MEGF10_ENST00000503335.2_Missense_Mutation_p.W391C|MEGF10_ENST00000418761.2_Missense_Mutation_p.W391C|MEGF10_ENST00000508365.1_Missense_Mutation_p.W391C	NM_032446.2	NP_115822.1	Q96KG7	MEG10_HUMAN	multiple EGF-like-domains 10	391	Necessary for interaction with AP2M1, self-assembly and formation of the irregular, mosaic-like adhesion pattern.				homotypic cell-cell adhesion (GO:0034109)|muscle cell development (GO:0055001)|recognition of apoptotic cell (GO:0043654)|regulation of muscle cell differentiation (GO:0051147)|regulation of skeletal muscle tissue development (GO:0048641)|skeletal muscle satellite cell activation (GO:0014719)|skeletal muscle satellite cell differentiation (GO:0014816)|skeletal muscle satellite cell proliferation (GO:0014841)	cell projection (GO:0042995)|integral component of membrane (GO:0016021)|phagocytic cup (GO:0001891)				breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(28)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	68		Prostate(80;0.165)	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0657)|Epithelial(69;0.123)		AGCCGGGCTGGTCAGGACTCT	0.517																																						ENST00000274473.6																			0				breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(28)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	68						c.(1171-1173)tgG>tgC		multiple EGF-like-domains 10							140.0	122.0	128.0					5																	126753372		2203	4300	6503	SO:0001583	missense	84466				cell adhesion|phagocytosis	basolateral plasma membrane|cell projection|integral to membrane|phagocytic cup		g.chr5:126753372G>C	AK021631	CCDS4142.1	5q33	2008-02-05			ENSG00000145794	ENSG00000145794			29634	protein-coding gene	gene with protein product		612453				11347906	Standard	NM_032446		Approved	KIAA1780	uc003kui.4	Q96KG7	OTTHUMG00000128984	ENST00000274473.6:c.1173G>C	5.37:g.126753372G>C	ENSP00000274473:p.Trp391Cys					MEGF10_ENST00000503335.2_Missense_Mutation_p.W391C|MEGF10_ENST00000418761.2_Missense_Mutation_p.W391C|MEGF10_ENST00000508365.1_Missense_Mutation_p.W391C	p.W391C	NM_032446.2	NP_115822.1	Q96KG7	MEG10_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0268)|Kidney(363;0.0488)	OV - Ovarian serous cystadenocarcinoma(64;0.0657)|Epithelial(69;0.123)	11	1440	+		Prostate(80;0.165)	391			Necessary for interaction with AP2M1, self-assembly and formation of the irregular, mosaic-like adhesion pattern.		Q68DE5|Q8WUL3	Missense_Mutation	SNP	ENST00000274473.6	37	c.1173G>C	CCDS4142.1	.	.	.	.	.	.	.	.	.	.	G	25.0	4.597297	0.87055	.	.	ENSG00000145794	ENST00000503335;ENST00000508365;ENST00000418761;ENST00000274473	T;T;T;T	0.55234	0.53;0.53;0.53;0.53	5.69	5.69	0.88448	EGF-like, laminin (2);EGF-like region, conserved site (2);	0.000000	0.64402	D	0.000001	D	0.84079	0.5393	H	0.98951	4.38	0.80722	D	1	D;D	0.64830	0.983;0.994	P;D	0.65233	0.669;0.933	D	0.90352	0.4367	10	0.87932	D	0	-21.908	19.8251	0.96614	0.0:0.0:1.0:0.0	.	391;391	Q96KG7-2;Q96KG7	.;MEG10_HUMAN	C	391	ENSP00000423354:W391C;ENSP00000423195:W391C;ENSP00000416284:W391C;ENSP00000274473:W391C	ENSP00000274473:W391C	W	+	3	0	MEGF10	126781271	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.864000	0.99589	2.692000	0.91855	0.655000	0.94253	TGG		0.517	MEGF10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250973.2	NM_032446		58	142	0	0	0	1	0	58	142				
LRP1B	53353	broad.mit.edu	37	2	141473634	141473634	+	Silent	SNP	A	A	T			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr2:141473634A>T	ENST00000389484.3	-	37	6902	c.5931T>A	c.(5929-5931)atT>atA	p.I1977I		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	1977					protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		TTGCAACTTCAATTAAGTTGA	0.343										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	ENST00000389484.3																			0				NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606						c.(5929-5931)atT>atA		low density lipoprotein receptor-related protein 1B							116.0	122.0	120.0					2																	141473634		2203	4300	6503	SO:0001819	synonymous_variant	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141473634A>T	AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.5931T>A	2.37:g.141473634A>T		TSP Lung(27;0.18)					p.I1977I	NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)	37	6902	-		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)	1977					Q8WY29|Q8WY30|Q8WY31	Silent	SNP	ENST00000389484.3	37	c.5931T>A	CCDS2182.1																																																																																				0.343	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		39	127	0	0	0	1	0	39	127				
POPDC3	64208	broad.mit.edu	37	6	105606552	105606552	+	Silent	SNP	C	C	T			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr6:105606552C>T	ENST00000254765.3	-	4	947	c.669G>A	c.(667-669)caG>caA	p.Q223Q	BVES-AS1_ENST00000369122.3_RNA|BVES-AS1_ENST00000580511.1_RNA|BVES-AS1_ENST00000580854.1_RNA|POPDC3_ENST00000474760.1_5'UTR|BVES-AS1_ENST00000369120.2_RNA	NM_022361.4	NP_071756.2	Q9HBV1	POPD3_HUMAN	popeye domain containing 3	223					regulation of membrane potential (GO:0042391)	integral component of membrane (GO:0016021)				NS(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(2)|skin(3)|urinary_tract(1)	26		all_cancers(87;4.87e-05)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0157)|Colorectal(196;0.202)|Lung NSC(302;0.238)				TGTAGCGATGCTGAGCAAAGA	0.393																																						ENST00000254765.3																			0				NS(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(10)|ovary(2)|skin(3)|urinary_tract(1)	26						c.(667-669)caG>caA		popeye domain containing 3							210.0	216.0	214.0					6																	105606552		2203	4300	6503	SO:0001819	synonymous_variant	64208					integral to membrane		g.chr6:105606552C>T	BC022323	CCDS5052.1	6q21	2003-06-12			ENSG00000132429	ENSG00000132429			17649	protein-coding gene	gene with protein product		605824				10882522	Standard	NM_022361		Approved	POP3, MGC22671, bA355M14.1	uc003prb.3	Q9HBV1	OTTHUMG00000015293	ENST00000254765.3:c.669G>A	6.37:g.105606552C>T						BVES-AS1_ENST00000580511.1_RNA|BVES-AS1_ENST00000369120.2_RNA|BVES-AS1_ENST00000369122.3_RNA|BVES-AS1_ENST00000580854.1_RNA|POPDC3_ENST00000474760.1_5'UTR	p.Q223Q	NM_022361.4	NP_071756.2	Q9HBV1	POPD3_HUMAN			4	947	-		all_cancers(87;4.87e-05)|Acute lymphoblastic leukemia(125;1.9e-08)|all_hematologic(75;9.25e-07)|all_epithelial(87;0.0157)|Colorectal(196;0.202)|Lung NSC(302;0.238)	223					B2RA98|Q5T3Y8|Q8TBW6	Silent	SNP	ENST00000254765.3	37	c.669G>A	CCDS5052.1																																																																																				0.393	POPDC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041651.1	NM_022361		167	248	0	0	0	1	0	167	248				
SMEK1	55671	broad.mit.edu	37	14	91942249	91942249	+	Missense_Mutation	SNP	T	T	C			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr14:91942249T>C	ENST00000554943.1	-	7	1287	c.1172A>G	c.(1171-1173)tAt>tGt	p.Y391C	SMEK1_ENST00000555462.1_Missense_Mutation_p.Y152C|SMEK1_ENST00000337238.4_Missense_Mutation_p.Y391C|SMEK1_ENST00000554684.1_Missense_Mutation_p.Y391C|SMEK1_ENST00000428424.2_Missense_Mutation_p.Y152C			Q6IN85	P4R3A_HUMAN	SMEK homolog 1, suppressor of mek1 (Dictyostelium)	391					positive regulation of gluconeogenesis (GO:0045722)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|protein phosphatase 4 complex (GO:0030289)				NS(1)|endometrium(1)|kidney(1)|liver(1)|lung(1)|stomach(1)	6		all_cancers(154;0.0691)|all_epithelial(191;0.219)		COAD - Colon adenocarcinoma(157;0.221)		GGATGGATTATATTCAACCAA	0.363																																						ENST00000554684.1																			0				NS(1)|endometrium(1)|kidney(1)|liver(1)|lung(1)|stomach(1)	6						c.(1171-1173)tAt>tGt		SMEK homolog 1, suppressor of mek1 (Dictyostelium)							110.0	99.0	103.0					14																	91942249		2203	4300	6503	SO:0001583	missense	55671					microtubule organizing center|nucleus	protein binding	g.chr14:91942249T>C	AK000714	CCDS9895.1, CCDS61532.1	14q32.12	2008-09-15	2006-10-12	2006-10-12		ENSG00000100796			20219	protein-coding gene	gene with protein product		610351	"""KIAA2010"""	KIAA2010		16085932, 18487071	Standard	XM_005267842		Approved	FLJ20707, MSTP033, FLFL1, smk-1, smk1	uc001xzm.3	Q6IN85		ENST00000554943.1:c.1172A>G	14.37:g.91942249T>C	ENSP00000450883:p.Tyr391Cys					SMEK1_ENST00000337238.4_Missense_Mutation_p.Y391C|SMEK1_ENST00000428424.2_Missense_Mutation_p.Y152C|SMEK1_ENST00000554943.1_Missense_Mutation_p.Y391C|SMEK1_ENST00000555462.1_Missense_Mutation_p.Y152C	p.Y391C			Q6IN85	P4R3A_HUMAN		COAD - Colon adenocarcinoma(157;0.221)	7	1668	-		all_cancers(154;0.0691)|all_epithelial(191;0.219)	391					Q69YK6|Q86U23|Q86YI7|Q8IVG1|Q9H3F1|Q9H7U8|Q9NV01|Q9NWP1	Missense_Mutation	SNP	ENST00000554943.1	37	c.1172A>G		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	16.46|16.46	3.128374|3.128374	0.56721|0.56721	.|.	.|.	ENSG00000100796|ENSG00000100796	ENST00000555470|ENST00000554684;ENST00000337238;ENST00000428424;ENST00000554943;ENST00000555462;ENST00000554390;ENST00000555029;ENST00000417249	.|T;T;T;T;T;T;T	.|0.43294	.|0.95;0.95;0.95;0.95;0.95;0.95;0.95	5.37|5.37	5.37|5.37	0.77165|0.77165	.|Armadillo-like helical (1);Armadillo-type fold (1);	.|0.165203	.|0.56097	.|D	.|0.000032	T|T	0.59945|0.59945	0.2231|0.2231	L|L	0.53561|0.53561	1.675|1.675	0.80722|0.80722	D|D	1|1	.|D;D;B;B	.|0.76494	.|0.999;0.996;0.002;0.004	.|D;P;B;B	.|0.79784	.|0.993;0.794;0.005;0.012	T|T	0.61407|0.61407	-0.7069|-0.7069	5|10	.|0.54805	.|T	.|0.06	-2.7852|-2.7852	15.4209|15.4209	0.75009|0.75009	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|152;391;391;391	.|Q6IN85-4;G3V5Z3;Q6IN85;Q6IN85-2	.|.;.;P4R3A_HUMAN;.	M|C	170|391;391;152;391;152;391;152;181	.|ENSP00000450864:Y391C;ENSP00000337125:Y391C;ENSP00000392704:Y152C;ENSP00000450883:Y391C;ENSP00000450891:Y152C;ENSP00000452596:Y391C;ENSP00000452257:Y152C	.|ENSP00000337125:Y391C	I|Y	-|-	3|2	3|0	SMEK1|SMEK1	91012002|91012002	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	4.928000|4.928000	0.63447|0.63447	2.052000|2.052000	0.61016|0.61016	0.477000|0.477000	0.44152|0.44152	ATA|TAT		0.363	SMEK1-007	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000411665.1	NM_032560		22	89	0	0	0	1	0	22	89				
DAAM2	23500	broad.mit.edu	37	6	39846300	39846300	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr6:39846300C>T	ENST00000398904.2	+	13	1663	c.1481C>T	c.(1480-1482)tCc>tTc	p.S494F	DAAM2_ENST00000538976.1_Missense_Mutation_p.S494F|DAAM2_ENST00000274867.4_Missense_Mutation_p.S494F			Q86T65	DAAM2_HUMAN	dishevelled associated activator of morphogenesis 2	494					actin cytoskeleton organization (GO:0030036)|determination of left/right symmetry (GO:0007368)					NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(18)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)	49	Ovarian(28;0.0355)|Colorectal(47;0.196)					GCCCGGGAGTCCCAGGAGCTG	0.562																																						ENST00000538976.1																			0				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(18)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)	49						c.(1480-1482)tCc>tTc		dishevelled associated activator of morphogenesis 2							29.0	34.0	33.0					6																	39846300		2010	4178	6188	SO:0001583	missense	23500				actin cytoskeleton organization		actin binding|Rho GTPase binding	g.chr6:39846300C>T	AB002379	CCDS54999.1, CCDS56426.1	6p21.1	2008-07-30			ENSG00000146122	ENSG00000146122			18143	protein-coding gene	gene with protein product		606627				11779461, 12632087	Standard	NM_015345		Approved	KIAA0381	uc003oow.3	Q86T65	OTTHUMG00000014653	ENST00000398904.2:c.1481C>T	6.37:g.39846300C>T	ENSP00000381876:p.Ser494Phe					DAAM2_ENST00000274867.4_Missense_Mutation_p.S494F|DAAM2_ENST00000398904.2_Missense_Mutation_p.S494F	p.S494F	NM_015345.3	NP_056160.2	Q86T65	DAAM2_HUMAN			13	1663	+	Ovarian(28;0.0355)|Colorectal(47;0.196)		494					G5EA45|Q5T4T8|Q5T4U0|Q9NQI5|Q9Y4G0	Missense_Mutation	SNP	ENST00000398904.2	37	c.1481C>T	CCDS56426.1	.	.	.	.	.	.	.	.	.	.	C	21.6	4.174567	0.78452	.	.	ENSG00000146122	ENST00000274867;ENST00000398904;ENST00000538976	T;T;T	0.74947	-0.89;-0.89;-0.89	5.46	5.46	0.80206	.	0.225469	0.41097	D	0.000949	T	0.75939	0.3918	M	0.62723	1.935	0.80722	D	1	D;P	0.54207	0.965;0.94	P;P	0.51135	0.66;0.459	T	0.79203	-0.1900	10	0.72032	D	0.01	.	18.8805	0.92354	0.0:1.0:0.0:0.0	.	494;494	G5EA45;Q86T65	.;DAAM2_HUMAN	F	494	ENSP00000274867:S494F;ENSP00000381876:S494F;ENSP00000437808:S494F	ENSP00000274867:S494F	S	+	2	0	DAAM2	39954278	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.913000	0.63341	2.552000	0.86080	0.555000	0.69702	TCC		0.562	DAAM2-003	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000280648.1			14	25	0	0	0	1	0	14	25				
ILDR2	387597	broad.mit.edu	37	1	166890013	166890013	+	Silent	SNP	G	G	A			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr1:166890013G>A	ENST00000271417.3	-	9	1870	c.1815C>T	c.(1813-1815)taC>taT	p.Y605Y	ILDR2_ENST00000529387.1_Intron|ILDR2_ENST00000528703.1_Silent_p.Y546Y|ILDR2_ENST00000529071.1_Silent_p.Y586Y|ILDR2_ENST00000469934.2_Intron|ILDR2_ENST00000525740.1_Silent_p.Y478Y|ILDR2_ENST00000526687.1_Silent_p.Y497Y	NM_199351.2	NP_955383.1	Q71H61	ILDR2_HUMAN	immunoglobulin-like domain containing receptor 2	605					cell differentiation (GO:0030154)|homeostasis of number of cells within a tissue (GO:0048873)|insulin secretion (GO:0030073)|pancreas development (GO:0031016)|response to glucose (GO:0009749)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				NS(3)|breast(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	22						CGCGGCCGCGGTAGGACGGGC	0.677																																						ENST00000271417.3																			0				NS(3)|breast(1)|kidney(2)|large_intestine(2)|lung(9)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	22						c.(1813-1815)taC>taT		immunoglobulin-like domain containing receptor 2							6.0	8.0	7.0					1																	166890013		2092	4120	6212	SO:0001819	synonymous_variant	387597					integral to membrane		g.chr1:166890013G>A	AF503509	CCDS1256.1	1q24.1	2008-12-18	2008-12-18	2008-12-18	ENSG00000143195	ENSG00000143195			18131	protein-coding gene	gene with protein product	"""LISCH-like"""		"""chromosome 1 open reading frame 32"""	C1orf32			Standard	NM_199351		Approved		uc001gdx.2	Q71H61	OTTHUMG00000034320	ENST00000271417.3:c.1815C>T	1.37:g.166890013G>A						ILDR2_ENST00000525740.1_Silent_p.Y478Y|ILDR2_ENST00000528703.1_Silent_p.Y546Y|ILDR2_ENST00000526687.1_Silent_p.Y497Y|ILDR2_ENST00000529071.1_Silent_p.Y586Y|ILDR2_ENST00000469934.2_Intron|ILDR2_ENST00000529387.1_Intron	p.Y605Y	NM_199351.2	NP_955383.1	Q71H61	ILDR2_HUMAN			9	1870	-			605						Silent	SNP	ENST00000271417.3	37	c.1815C>T	CCDS1256.1																																																																																				0.677	ILDR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000082880.2	NM_199351		15	12	0	0	0	1	0	15	12				
PSG8	440533	broad.mit.edu	37	19	43268171	43268171	+	Silent	SNP	G	G	T			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr19:43268171G>T	ENST00000306511.4	-	2	424	c.327C>A	c.(325-327)atC>atA	p.I109I	PSG8_ENST00000404209.4_Silent_p.I109I|PSG8_ENST00000406636.3_Intron|PSG8_ENST00000401467.2_Silent_p.I109I	NM_182707.2	NP_874366.1	Q9UQ74	PSG8_HUMAN	pregnancy specific beta-1-glycoprotein 8	109	Ig-like V-type.					extracellular region (GO:0005576)				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(19)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	40		Prostate(69;0.00899)				TGACATTCTGGATCAGCAGGG	0.413																																						ENST00000404209.4																			0				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(19)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	40						c.(325-327)atC>atA		pregnancy specific beta-1-glycoprotein 8							376.0	378.0	377.0					19																	43268171		2203	4299	6502	SO:0001819	synonymous_variant	440533					extracellular region		g.chr19:43268171G>T	M74106	CCDS33037.1, CCDS46090.1, CCDS46091.1	19q13.2	2013-01-29			ENSG00000124467	ENSG00000124467		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9525	protein-coding gene	gene with protein product		176397				1672663, 1572651	Standard	NM_182707		Approved		uc002ouo.2	Q9UQ74	OTTHUMG00000151118	ENST00000306511.4:c.327C>A	19.37:g.43268171G>T						PSG8_ENST00000401467.2_Silent_p.I109I|PSG8_ENST00000406636.3_Intron|PSG8_ENST00000306511.4_Silent_p.I109I	p.I109I	NM_001130167.1	NP_001123639.1	Q9UQ74	PSG8_HUMAN			2	423	-		Prostate(69;0.00899)	109			Ig-like V-type.		A5PKV3|B2RPL4|B4DTI6|O60410|Q68CR6	Silent	SNP	ENST00000306511.4	37	c.327C>A	CCDS33037.1																																																																																				0.413	PSG8-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000464526.1			327	602	1	0	8.87606e-151	1	1.35677e-150	327	602				
PDZD9	255762	broad.mit.edu	37	16	21995692	21995692	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr16:21995692C>A	ENST00000424898.2	-	4	753	c.691G>T	c.(691-693)Gaa>Taa	p.E231*	PDZD9_ENST00000537222.2_Nonsense_Mutation_p.E171*|PDZD9_ENST00000286143.6_Nonsense_Mutation_p.E169*			Q8IXQ8	PDZD9_HUMAN	PDZ domain containing 9	231										breast(3)|endometrium(2)|lung(3)|pancreas(1)	9						GAAGAGCTTTCATTGTCTTGC	0.453																																						ENST00000286143.6																			0				breast(3)|endometrium(2)|lung(3)|pancreas(1)	9						c.(505-507)Gaa>Taa		PDZ domain containing 9							280.0	268.0	272.0					16																	21995692		2198	4300	6498	SO:0001587	stop_gained	255762							g.chr16:21995692C>A	BC039562	CCDS10602.1, CCDS10602.2	16p12.1	2010-04-14	2010-04-14	2010-04-14	ENSG00000155714	ENSG00000155714			28740	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 65"""	C16orf65		12477932	Standard	NM_173806		Approved	MGC50721	uc021ter.1	Q8IXQ8	OTTHUMG00000131586	ENST00000424898.2:c.691G>T	16.37:g.21995692C>A	ENSP00000400514:p.Glu231*					PDZD9_ENST00000424898.2_Nonsense_Mutation_p.E231*|PDZD9_ENST00000537222.2_Nonsense_Mutation_p.E171*	p.E169*			Q8IXQ8	PDZD9_HUMAN			5	826	-			231					F5GWW8	Nonsense_Mutation	SNP	ENST00000424898.2	37	c.505G>T		.	.	.	.	.	.	.	.	.	.	C	17.61	3.431962	0.62844	.	.	ENSG00000155714	ENST00000424898;ENST00000537222;ENST00000286143	.	.	.	5.43	1.24	0.21308	.	1.165600	0.06164	N	0.676515	.	.	.	.	.	.	0.47308	D	0.999384	.	.	.	.	.	.	.	.	.	.	0.23891	T	0.37	-1.8231	5.9709	0.19351	0.0:0.5409:0.2941:0.1651	.	.	.	.	X	231;171;169	.	ENSP00000286143:E169X	E	-	1	0	PDZD9	21903193	0.000000	0.05858	0.001000	0.08648	0.380000	0.30137	0.344000	0.19962	0.010000	0.14839	-0.251000	0.11542	GAA		0.453	PDZD9-003	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000381652.1	NM_173806		144	401	1	0	1.82087e-56	1	2.64181e-56	144	401				
MYBPC2	4606	broad.mit.edu	37	19	50963374	50963374	+	Missense_Mutation	SNP	A	A	C			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr19:50963374A>C	ENST00000357701.5	+	24	2920	c.2869A>C	c.(2869-2871)Aaa>Caa	p.K957Q		NM_004533.3	NP_004524.3	Q14324	MYPC2_HUMAN	myosin binding protein C, fast type	957	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)|muscle filament sliding (GO:0030049)	cytosol (GO:0005829)|myosin filament (GO:0032982)	structural constituent of muscle (GO:0008307)			breast(1)	1		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.0079)|GBM - Glioblastoma multiforme(134;0.0144)		GCAGGCCCCCAAAGATGATGG	0.552																																						ENST00000357701.5																			0				breast(1)	1						c.(2869-2871)Aaa>Caa		myosin binding protein C, fast type							25.0	29.0	28.0					19																	50963374		1936	4121	6057	SO:0001583	missense	4606				cell adhesion|muscle filament sliding	cytosol|myosin filament	actin binding|structural constituent of muscle	g.chr19:50963374A>C		CCDS46152.1	19q13.33	2013-02-11	2001-11-28		ENSG00000086967	ENSG00000086967		"""Myosin binding proteins"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7550	protein-coding gene	gene with protein product	"""fast-type muscle myosin-binding-protein C"""	160793	"""myosin-binding protein C, fast-type"""			8375400	Standard	NM_004533		Approved	MYBPCF, MYBPC, MGC163408	uc002psf.2	Q14324		ENST00000357701.5:c.2869A>C	19.37:g.50963374A>C	ENSP00000350332:p.Lys957Gln						p.K957Q	NM_004533.3	NP_004524.3	Q14324	MYPC2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0079)|GBM - Glioblastoma multiforme(134;0.0144)	24	2920	+		all_neural(266;0.057)	957			Fibronectin type-III 3.		A1L4G9	Missense_Mutation	SNP	ENST00000357701.5	37	c.2869A>C	CCDS46152.1	.	.	.	.	.	.	.	.	.	.	a	11.01	1.512997	0.27123	.	.	ENSG00000086967	ENST00000357701	T	0.58506	0.33	3.51	2.34	0.29019	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.000000	0.36519	U	0.002544	T	0.47600	0.1454	L	0.39514	1.22	0.30231	N	0.795917	P	0.41420	0.749	P	0.45794	0.493	T	0.41627	-0.9498	10	0.13108	T	0.6	.	8.8927	0.35444	0.8123:0.1877:0.0:0.0	.	957	Q14324	MYPC2_HUMAN	Q	957	ENSP00000350332:K957Q	ENSP00000350332:K957Q	K	+	1	0	MYBPC2	55655186	0.007000	0.16637	0.933000	0.37362	0.799000	0.45148	1.343000	0.33930	1.542000	0.49330	0.370000	0.22315	AAA		0.552	MYBPC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464751.1	NM_004533		4	19	0	0	0	1	0	4	19				
ZNF462	58499	broad.mit.edu	37	9	109691728	109691728	+	Silent	SNP	A	A	T			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr9:109691728A>T	ENST00000277225.5	+	3	5824	c.5535A>T	c.(5533-5535)ccA>ccT	p.P1845P	ZNF462_ENST00000441147.2_Silent_p.P690P|ZNF462_ENST00000457913.1_Silent_p.P1845P			Q96JM2	ZN462_HUMAN	zinc finger protein 462	1845					chromatin organization (GO:0006325)|negative regulation of DNA binding (GO:0043392)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						AGTGGCTCCCATTCCGCTGCA	0.522																																						ENST00000277225.5																			0				NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						c.(5533-5535)ccA>ccT		zinc finger protein 462							101.0	75.0	84.0					9																	109691728		2203	4300	6503	SO:0001819	synonymous_variant	58499				transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr9:109691728A>T	AB058706	CCDS35096.1	9q31.3	2008-02-05			ENSG00000148143	ENSG00000148143		"""Zinc fingers, C2H2-type"""	21684	protein-coding gene	gene with protein product							Standard	NM_021224		Approved	DKFZP762N2316, KIAA1803, Zfp462	uc004bcz.3	Q96JM2	OTTHUMG00000020438	ENST00000277225.5:c.5535A>T	9.37:g.109691728A>T						ZNF462_ENST00000441147.2_Silent_p.P690P|ZNF462_ENST00000457913.1_Silent_p.P1845P	p.P1845P			Q96JM2	ZN462_HUMAN			3	5824	+			1845					Q5T0T4|Q8N408	Silent	SNP	ENST00000277225.5	37	c.5535A>T	CCDS35096.1																																																																																				0.522	ZNF462-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000053532.2	NM_021224		71	75	0	0	0	1	0	71	75				
PTPRB	5787	broad.mit.edu	37	12	71016374	71016374	+	Silent	SNP	G	G	C			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr12:71016374G>C	ENST00000550358.1	-	3	529	c.504C>G	c.(502-504)ccC>ccG	p.P168P	PTPRB_ENST00000538174.2_5'UTR|PTPRB_ENST00000551525.1_Silent_p.P167P|PTPRB_ENST00000334414.6_Silent_p.P168P			P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	0	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				angiogenesis (GO:0001525)|dephosphorylation (GO:0016311)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphate-containing compound metabolic process (GO:0006796)|protein dephosphorylation (GO:0006470)	integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			TGAGAATCTGGGGTGGAGCCG	0.448																																						ENST00000334414.6																			0				breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107						c.(502-504)ccC>ccG		protein tyrosine phosphatase, receptor type, B							42.0	45.0	44.0					12																	71016374		1850	4097	5947	SO:0001819	synonymous_variant	5787				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr12:71016374G>C	X54131	CCDS44943.1, CCDS44944.1, CCDS55845.1, CCDS55846.1	12q15-q21	2013-02-11						"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9665	protein-coding gene	gene with protein product		176882		PTPB		2169617	Standard	NM_001109754		Approved		uc001swc.4	P23467	OTTHUMG00000169499	ENST00000550358.1:c.504C>G	12.37:g.71016374G>C						PTPRB_ENST00000550358.1_Silent_p.P168P|PTPRB_ENST00000538174.2_5'UTR|PTPRB_ENST00000551525.1_Silent_p.P167P	p.P168P	NM_001109754.2	NP_001103224.1	P23467	PTPRB_HUMAN	GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)		3	548	-	Renal(347;0.236)		0			Fibronectin type-III 2.		B7ZKS8|B7ZKT0|C9JX87|F5H3G6|Q14D85|Q3MIV7	Silent	SNP	ENST00000550358.1	37	c.504C>G																																																																																					0.448	PTPRB-003	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000404436.1			7	14	0	0	0	1	0	7	14				
ADCY2	108	broad.mit.edu	37	5	7690829	7690829	+	Missense_Mutation	SNP	C	C	G			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr5:7690829C>G	ENST00000338316.4	+	5	835	c.746C>G	c.(745-747)cCg>cGg	p.P249R	ADCY2_ENST00000513693.1_3'UTR|ADCY2_ENST00000537121.1_Missense_Mutation_p.P69R	NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN	adenylate cyclase 2 (brain)	249					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cAMP biosynthetic process (GO:0006171)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	adenylate cyclase activity (GO:0004016)|adenylate cyclase binding (GO:0008179)|ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)|protein heterodimerization activity (GO:0046982)			NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	119						TCCCTGCTGCCGGCCCACATC	0.557																																						ENST00000338316.4																			0				NS(3)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|lung(56)|ovary(8)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	119						c.(745-747)cCg>cGg		adenylate cyclase 2 (brain)							43.0	42.0	42.0					5																	7690829		2203	4300	6503	SO:0001583	missense	108				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	cytoplasm|dendrite|integral to membrane|plasma membrane	ATP binding|metal ion binding	g.chr5:7690829C>G	AB028983	CCDS3872.2	5p15.3	2013-02-04			ENSG00000078295	ENSG00000078295	4.6.1.1	"""Adenylate cyclases"""	233	protein-coding gene	gene with protein product		103071				1427768	Standard	NM_020546		Approved	HBAC2, KIAA1060, AC2	uc003jdz.1	Q08462	OTTHUMG00000090476	ENST00000338316.4:c.746C>G	5.37:g.7690829C>G	ENSP00000342952:p.Pro249Arg					ADCY2_ENST00000513693.1_3'UTR|ADCY2_ENST00000537121.1_Missense_Mutation_p.P69R	p.P249R	NM_020546.2	NP_065433.2	Q08462	ADCY2_HUMAN			5	835	+			249					B7Z2C1|Q2NKL8|Q9UDB2|Q9UPU2	Missense_Mutation	SNP	ENST00000338316.4	37	c.746C>G	CCDS3872.2	.	.	.	.	.	.	.	.	.	.	C	31	5.078413	0.94000	.	.	ENSG00000078295	ENST00000338316;ENST00000541993;ENST00000515681;ENST00000537121	D;D	0.91351	-1.72;-2.83	5.78	5.78	0.91487	Adenylyl cyclase class-3/4/guanylyl cyclase (1);	0.000000	0.85682	D	0.000000	D	0.96352	0.8810	M	0.88704	2.975	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.971	D	0.96462	0.9342	10	0.87932	D	0	.	20.0118	0.97458	0.0:1.0:0.0:0.0	.	69;249	B7Z2C1;Q08462	.;ADCY2_HUMAN	R	249;100;38;69	ENSP00000342952:P249R;ENSP00000444803:P69R	ENSP00000342952:P249R	P	+	2	0	ADCY2	7743829	1.000000	0.71417	0.959000	0.39883	0.972000	0.66771	7.489000	0.81451	2.742000	0.94016	0.650000	0.86243	CCG		0.557	ADCY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206930.2	NM_020546		26	56	0	0	0	1	0	26	56				
OR5D18	219438	broad.mit.edu	37	11	55587463	55587463	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr11:55587463G>A	ENST00000333976.4	+	1	378	c.358G>A	c.(358-360)Gcc>Acc	p.A120T		NM_001001952.1	NP_001001952.1	Q8NGL1	OR5DI_HUMAN	olfactory receptor, family 5, subfamily D, member 18	120						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(2)|breast(1)|endometrium(3)|large_intestine(6)|lung(33)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		all_epithelial(135;0.208)				AGCTGTGATGGCCTATGACCG	0.453																																						ENST00000333976.4																			0				NS(2)|breast(1)|endometrium(3)|large_intestine(6)|lung(33)|ovary(1)|prostate(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	55						c.(358-360)Gcc>Acc		olfactory receptor, family 5, subfamily D, member 18							167.0	162.0	164.0					11																	55587463		2200	4296	6496	SO:0001583	missense	219438				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55587463G>A	AB065781	CCDS31510.1	11q11	2012-08-09			ENSG00000186119	ENSG00000186119		"""GPCR / Class A : Olfactory receptors"""	15285	protein-coding gene	gene with protein product							Standard	NM_001001952		Approved		uc010rin.2	Q8NGL1	OTTHUMG00000166811	ENST00000333976.4:c.358G>A	11.37:g.55587463G>A	ENSP00000335025:p.Ala120Thr						p.A120T	NM_001001952.1	NP_001001952.1	Q8NGL1	OR5DI_HUMAN			1	378	+		all_epithelial(135;0.208)	120					Q6IF67|Q6IFD3|Q96RB3	Missense_Mutation	SNP	ENST00000333976.4	37	c.358G>A	CCDS31510.1	.	.	.	.	.	.	.	.	.	.	.	20.7	4.036021	0.75617	.	.	ENSG00000186119	ENST00000333976	T	0.54071	0.59	4.84	3.91	0.45181	GPCR, rhodopsin-like superfamily (1);	0.000000	0.39210	N	0.001428	T	0.68869	0.3048	H	0.96365	3.81	0.35287	D	0.781833	P	0.50369	0.934	P	0.44696	0.458	D	0.84873	0.0826	10	0.87932	D	0	-38.6253	13.543	0.61686	0.0:0.0:0.8427:0.1573	.	120	Q8NGL1	OR5DI_HUMAN	T	120	ENSP00000335025:A120T	ENSP00000335025:A120T	A	+	1	0	OR5D18	55344039	1.000000	0.71417	0.996000	0.52242	0.870000	0.49936	3.767000	0.55288	1.190000	0.43042	0.560000	0.71715	GCC		0.453	OR5D18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391515.1	NM_001001952		79	252	0	0	0	1	0	79	252				
NDUFAF2	91942	broad.mit.edu	37	5	60241050	60241050	+	De_novo_Start_OutOfFrame	SNP	G	G	A	rs200299226	byFrequency	TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr5:60241050G>A	ENST00000296597.5	+	0	95				ERCC8_ENST00000265038.5_5'Flank|ERCC8_ENST00000543101.1_5'Flank|NDUFAF2_ENST00000511107.1_De_novo_Start_OutOfFrame|ERCC8_ENST00000426742.2_5'Flank	NM_174889.4	NP_777549.1	Q8N183	MIMIT_HUMAN	NADH dehydrogenase (ubiquinone) complex I, assembly factor 2						negative regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061179)|reactive oxygen species metabolic process (GO:0072593)|respiratory electron transport chain (GO:0022904)	mitochondrion (GO:0005739)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|ovary(1)	6		Lung NSC(810;3.36e-05)|Prostate(74;0.0225)|Ovarian(174;0.17)|Breast(144;0.237)				TGCGGGTCCCGCTGCTGGCAG	0.632																																						ENST00000296597.5																			0				central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|ovary(1)	6								NADH dehydrogenase (ubiquinone) complex I, assembly factor 2							29.0	29.0	29.0					5																	60241050		2203	4300	6503			91942					membrane|mitochondrion	electron carrier activity|NADH dehydrogenase (ubiquinone) activity	g.chr5:60241050G>A	AB183433	CCDS3979.1	5q12.1	2012-10-12	2012-05-08	2008-02-15	ENSG00000164182	ENSG00000164182		"""Mitochondrial respiratory chain complex assembly factors"""	28086	protein-coding gene	gene with protein product	"""Myc-induced mitochondrial protein"""	609653	"""NDUFA12-like"", ""NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, assembly factor 2"""	NDUFA12L		15774466, 16200211, 17383918	Standard	NM_174889		Approved	B17.2L, MMTN, mimitin	uc003jsp.4	Q8N183	OTTHUMG00000131221	ENST00000296597.5:c.-33G>A	5.37:g.60241050G>A						NDUFAF2_ENST00000511107.1_De_novo_Start_OutOfFrame		NM_174889.4	NP_777549.1	Q8N183	MIMIT_HUMAN			0	95	+		Lung NSC(810;3.36e-05)|Prostate(74;0.0225)|Ovarian(174;0.17)|Breast(144;0.237)						A8K5I1	Translation_Start_Site	SNP	ENST00000296597.5	37		CCDS3979.1																																																																																				0.632	NDUFAF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253965.1	NM_174889		4	41	0	0	0	1	0	4	41				
ZXDB	158586	broad.mit.edu	37	X	57618966	57618966	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chrX:57618966C>T	ENST00000374888.1	+	1	698	c.485C>T	c.(484-486)gCc>gTc	p.A162V		NM_007157.3	NP_009088.1	P98169	ZXDB_HUMAN	zinc finger, X-linked, duplicated B	162					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)			NS(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(2)|skin(6)	27						cccggccccgccgcggccttc	0.741																																						ENST00000374888.1																			0				NS(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(1)|lung(7)|ovary(2)|prostate(2)|skin(6)	27						c.(484-486)gCc>gTc		zinc finger, X-linked, duplicated B							4.0	6.0	5.0					X																	57618966		1779	3544	5323	SO:0001583	missense	158586				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleic acid binding|zinc ion binding	g.chrX:57618966C>T	L14788	CCDS35313.1	Xp11.1	2013-01-08			ENSG00000198455	ENSG00000198455		"""Zinc fingers, C2H2-type"""	13199	protein-coding gene	gene with protein product		300236				8268913	Standard	NM_007157		Approved	ZNF905	uc004dvd.3	P98169	OTTHUMG00000021685	ENST00000374888.1:c.485C>T	X.37:g.57618966C>T	ENSP00000364023:p.Ala162Val						p.A162V	NM_007157.3	NP_009088.1	P98169	ZXDB_HUMAN			1	698	+			162					A8K151|Q9UBB3	Missense_Mutation	SNP	ENST00000374888.1	37	c.485C>T	CCDS35313.1	.	.	.	.	.	.	.	.	.	.	.	8.240	0.806539	0.16467	.	.	ENSG00000198455	ENST00000374888	T	0.64618	-0.11	2.29	2.29	0.28610	.	0.630265	0.14785	N	0.298595	T	0.49508	0.1561	L	0.46157	1.445	0.09310	N	1	B	0.26935	0.164	B	0.19946	0.027	T	0.44345	-0.9334	10	0.51188	T	0.08	.	6.3123	0.21171	0.0:0.6907:0.3093:0.0	.	162	P98169	ZXDB_HUMAN	V	162	ENSP00000364023:A162V	ENSP00000364023:A162V	A	+	2	0	ZXDB	57635691	0.004000	0.15560	0.010000	0.14722	0.104000	0.19210	1.385000	0.34408	1.409000	0.46915	0.499000	0.49734	GCC		0.741	ZXDB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056922.1	NM_007157		13	3	0	0	0	1	0	13	3				
TMEM179	388021	broad.mit.edu	37	14	105070800	105070800	+	Silent	SNP	G	G	A			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr14:105070800G>A	ENST00000556573.1	-	1	520	c.279C>T	c.(277-279)ctC>ctT	p.L93L	TMEM179_ENST00000341595.3_Silent_p.L93L			Q6ZVK1	T179A_HUMAN	transmembrane protein 179	93						integral component of membrane (GO:0016021)				endometrium(1)|lung(2)|skin(1)	4			all cancers(16;0.00276)|OV - Ovarian serous cystadenocarcinoma(23;0.0262)|Epithelial(46;0.058)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.129)		AGAGGAAGAAGAGCGTGCGCC	0.751																																						ENST00000341595.3																			0				endometrium(1)|lung(2)|skin(1)	4						c.(277-279)ctC>ctT		transmembrane protein 179							5.0	7.0	6.0					14																	105070800		2047	4112	6159	SO:0001819	synonymous_variant	388021					integral to membrane		g.chr14:105070800G>A	AK124477	CCDS66723.1, CCDS73688.1	14q32.33	2012-04-11	2006-10-16	2006-10-16	ENSG00000258986	ENSG00000258986			20137	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 90"""	C14orf90			Standard	NM_001286390		Approved	FLJ42486, TMEM179A	uc001yox.1	Q6ZVK1	OTTHUMG00000170829	ENST00000556573.1:c.279C>T	14.37:g.105070800G>A						TMEM179_ENST00000556573.1_Silent_p.L93L	p.L93L	NM_207379.1	NP_997262.1	Q6ZVK1	T179A_HUMAN	all cancers(16;0.00276)|OV - Ovarian serous cystadenocarcinoma(23;0.0262)|Epithelial(46;0.058)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.129)	1	1184	-			93						Silent	SNP	ENST00000556573.1	37	c.279C>T																																																																																					0.751	TMEM179-002	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000410585.1	NM_207379		6	23	0	0	0	1	0	6	23				
DDX3Y	8653	broad.mit.edu	37	Y	15029413	15029413	+	Missense_Mutation	SNP	G	G	C	rs200975071		TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chrY:15029413G>C	ENST00000336079.3	+	16	1968	c.1862G>C	c.(1861-1863)aGt>aCt	p.S621T	DDX3Y_ENST00000360160.4_Missense_Mutation_p.S621T	NM_001122665.1|NM_004660.3	NP_001116137.1|NP_004651.2	O15523	DDX3Y_HUMAN	DEAD (Asp-Glu-Ala-Asp) box helicase 3, Y-linked	621						cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|DNA binding (GO:0003677)|RNA binding (GO:0003723)			kidney(1)|liver(2)|lung(1)|upper_aerodigestive_tract(1)	5						AGCAGCCGCAGTGGTGGAGGT	0.433													G	2	0.00162206	0.0	0.0	1233	,	,		142088	0.0		0.0042	False		,,,				1233	0.0					ENST00000336079.3																			0				kidney(1)|liver(2)|lung(1)|upper_aerodigestive_tract(1)	5						c.(1861-1863)aGt>aCt		DEAD (Asp-Glu-Ala-Asp) box helicase 3, Y-linked		G	THR/SER,THR/SER	0,571		0,571	56.0	59.0	58.0		1862,1862	2.3	1.0	Y		58	1,1871		1,1871	yes	missense,missense	DDX3Y	NM_001122665.1,NM_004660.3	58,58	1,2442	C,G		0.0534,0.0,0.0409	possibly-damaging,possibly-damaging	621/661,621/661	15029413	1,2442	609	1955	2564	SO:0001583	missense	8653					cytoplasm|nucleus	ATP binding|ATP-dependent helicase activity|DNA binding|RNA binding	g.chrY:15029413G>C	AF000984	CCDS14782.1	Yq11	2013-07-16	2013-07-16	2003-06-20	ENSG00000067048	ENSG00000067048		"""DEAD-boxes"""	2699	protein-coding gene	gene with protein product		400010	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide, Y chromosome"", ""DEAD (Asp-Glu-Ala-Asp) box polypeptide 3, Y-linked"""	DBY		9381176	Standard	NM_004660		Approved		uc004fsv.2	O15523	OTTHUMG00000036324	ENST00000336079.3:c.1862G>C	Y.37:g.15029413G>C	ENSP00000336725:p.Ser621Thr					DDX3Y_ENST00000360160.4_Missense_Mutation_p.S621T	p.S621T	NM_001122665.1|NM_004660.3	NP_001116137.1|NP_004651.2	O15523	DDX3Y_HUMAN			16	1968	+			621					B4DK29|B4DXX7|Q8IYV7	Missense_Mutation	SNP	ENST00000336079.3	37	c.1862G>C	CCDS14782.1																																																																																				0.433	DDX3Y-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088407.1	NM_004660		2	8	0	0	0	1	0	2	8				
PTPRB	5787	broad.mit.edu	37	12	70934711	70934711	+	Missense_Mutation	SNP	C	C	A			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr12:70934711C>A	ENST00000261266.5	-	21	4896	c.4867G>T	c.(4867-4869)Gtg>Ttg	p.V1623L	RP11-588H23.3_ENST00000549460.1_RNA|RP11-588H23.3_ENST00000546836.1_RNA|RP11-588H23.3_ENST00000547656.1_RNA|PTPRB_ENST00000550857.1_Missense_Mutation_p.V1533L|PTPRB_ENST00000451516.2_Missense_Mutation_p.V1533L|PTPRB_ENST00000550358.1_Missense_Mutation_p.V1753L|RP11-588H23.3_ENST00000551438.1_RNA|RP11-588H23.3_ENST00000548687.1_RNA|PTPRB_ENST00000334414.6_Missense_Mutation_p.V1841L|PTPRB_ENST00000538708.1_Missense_Mutation_p.V1533L	NM_002837.4	NP_002828.3	P23467	PTPRB_HUMAN	protein tyrosine phosphatase, receptor type, B	1623					angiogenesis (GO:0001525)|dephosphorylation (GO:0016311)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphate-containing compound metabolic process (GO:0006796)|protein dephosphorylation (GO:0006470)	integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107	Renal(347;0.236)		GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)			CCAGCACTCACACCTTCAATA	0.413																																						ENST00000334414.6																			0				breast(4)|central_nervous_system(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(46)|prostate(4)|skin(18)|upper_aerodigestive_tract(1)|urinary_tract(3)	107						c.(5521-5523)Gtg>Ttg		protein tyrosine phosphatase, receptor type, B							75.0	68.0	71.0					12																	70934711		1918	4146	6064	SO:0001583	missense	5787				angiogenesis	integral to plasma membrane	protein binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr12:70934711C>A	X54131	CCDS44943.1, CCDS44944.1, CCDS55845.1, CCDS55846.1	12q15-q21	2013-02-11						"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9665	protein-coding gene	gene with protein product		176882		PTPB		2169617	Standard	NM_001109754		Approved		uc001swc.4	P23467	OTTHUMG00000169499	ENST00000261266.5:c.4867G>T	12.37:g.70934711C>A	ENSP00000261266:p.Val1623Leu					PTPRB_ENST00000550358.1_Missense_Mutation_p.V1753L|PTPRB_ENST00000550857.1_Missense_Mutation_p.V1533L|PTPRB_ENST00000538708.1_Missense_Mutation_p.V1533L|PTPRB_ENST00000451516.2_Missense_Mutation_p.V1533L|PTPRB_ENST00000261266.5_Missense_Mutation_p.V1623L	p.V1841L	NM_001109754.2	NP_001103224.1	P23467	PTPRB_HUMAN	GBM - Glioblastoma multiforme(2;2.17e-05)|Lung(24;0.000636)|OV - Ovarian serous cystadenocarcinoma(12;0.00306)|STAD - Stomach adenocarcinoma(21;0.149)		23	5565	-	Renal(347;0.236)		1623			Tyrosine-protein phosphatase.		B7ZKS8|B7ZKT0|C9JX87|F5H3G6|Q14D85|Q3MIV7	Missense_Mutation	SNP	ENST00000261266.5	37	c.5521G>T	CCDS44944.1	.	.	.	.	.	.	.	.	.	.	C	16.16	3.043600	0.55003	.	.	ENSG00000127329	ENST00000334414;ENST00000451516;ENST00000550358;ENST00000538708;ENST00000550857;ENST00000261266	T;T;T;T;T;T	0.03301	3.98;3.98;3.98;4.06;3.98;4.02	6.02	6.02	0.97574	.	0.190746	0.46758	D	0.000273	T	0.05044	0.0135	N	0.22421	0.69	0.42144	D	0.991522	B;B;B;B;B	0.32781	0.076;0.259;0.384;0.04;0.076	B;B;B;B;B	0.36534	0.039;0.166;0.227;0.009;0.066	T	0.53351	-0.8451	10	0.42905	T	0.14	.	18.7213	0.91694	0.0:1.0:0.0:0.0	.	1533;1533;1841;1623;1753	P23467-2;F5H3G6;P23467-3;P23467;F8VU56	.;.;.;PTPRB_HUMAN;.	L	1841;1533;1753;1533;1533;1623	ENSP00000334928:V1841L;ENSP00000393028:V1533L;ENSP00000448058:V1753L;ENSP00000438927:V1533L;ENSP00000447302:V1533L;ENSP00000261266:V1623L	ENSP00000261266:V1623L	V	-	1	0	PTPRB	69220978	0.936000	0.31750	1.000000	0.80357	0.997000	0.91878	1.838000	0.39211	2.865000	0.98341	0.655000	0.94253	GTG		0.413	PTPRB-007	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000404439.1			9	16	1	0	0.00621372	1	0.00627234	9	16				
SGK223	157285	broad.mit.edu	37	8	8234718	8234718	+	Missense_Mutation	SNP	G	G	T	rs370037196		TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr8:8234718G>T	ENST00000520004.1	-	3	1465	c.1201C>A	c.(1201-1203)Ccc>Acc	p.P401T	SGK223_ENST00000330777.4_Missense_Mutation_p.P401T			Q86YV5	SG223_HUMAN		403							ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)										GCCTCCCGGGGGTGGGCCGGG	0.642																																					GBM(34;731 755 10259 33573 33867)	ENST00000520004.1																			0											c.(1201-1203)Ccc>Acc									27.0	30.0	29.0					8																	8234718		1885	4094	5979	SO:0001583	missense	157285						ATP binding|non-membrane spanning protein tyrosine kinase activity	g.chr8:8234718G>T																												ENST00000520004.1:c.1201C>A	8.37:g.8234718G>T	ENSP00000428054:p.Pro401Thr					SGK223_ENST00000330777.4_Missense_Mutation_p.P401T	p.P401T			Q86YV5	SG223_HUMAN			3	1465	-			401					Q8N3N5	Missense_Mutation	SNP	ENST00000520004.1	37	c.1201C>A	CCDS43706.1	.	.	.	.	.	.	.	.	.	.	G	4.216	0.038902	0.08148	.	.	ENSG00000182319	ENST00000330777;ENST00000520004	T;T	0.55234	0.53;0.53	4.91	-3.93	0.04143	.	1.034400	0.07653	N	0.932367	T	0.34948	0.0915	L	0.44542	1.39	0.09310	N	1	B	0.31680	0.335	B	0.25140	0.058	T	0.17930	-1.0353	10	0.21540	T	0.41	.	5.9262	0.19114	0.4324:0.237:0.3306:0.0	.	401	Q86YV5	SG223_HUMAN	T	401	ENSP00000330930:P401T;ENSP00000428054:P401T	ENSP00000330930:P401T	P	-	1	0	AC068353.1	8272128	0.000000	0.05858	0.000000	0.03702	0.367000	0.29736	0.403000	0.20982	-0.633000	0.05545	0.655000	0.94253	CCC		0.642	SGK223-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374864.1			71	62	1	0	1.37693e-34	1	1.87088e-34	71	62				
ZNF330	27309	broad.mit.edu	37	4	142150788	142150788	+	Missense_Mutation	SNP	G	G	T			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr4:142150788G>T	ENST00000262990.4	+	6	583	c.355G>T	c.(355-357)Gct>Tct	p.A119S	ZNF330_ENST00000421169.2_Missense_Mutation_p.A59S	NM_014487.4	NP_055302.1	Q9Y3S2	ZN330_HUMAN	zinc finger protein 330	119						chromosome, centromeric region (GO:0000775)|midbody (GO:0030496)|nucleolus (GO:0005730)	metal ion binding (GO:0046872)|zinc ion binding (GO:0008270)			kidney(1)|large_intestine(4)|lung(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	14	all_hematologic(180;0.162)					CAGTACACATGCTTGTGCCTG	0.443																																						ENST00000262990.4																			0				kidney(1)|large_intestine(4)|lung(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	14						c.(355-357)Gct>Tct		zinc finger protein 330							367.0	311.0	330.0					4																	142150788		2203	4300	6503	SO:0001583	missense	27309					chromosome, centromeric region|midbody|nucleolus	protein binding|zinc ion binding	g.chr4:142150788G>T	AJ006591	CCDS3754.1	4q31.21	2008-05-15			ENSG00000109445	ENSG00000109445		"""Zinc fingers, C2H2-type"""	15462	protein-coding gene	gene with protein product		609550				11528117, 10593942	Standard	NM_001292002		Approved	NOA36, HSA6591	uc003iiq.4	Q9Y3S2	OTTHUMG00000133413	ENST00000262990.4:c.355G>T	4.37:g.142150788G>T	ENSP00000262990:p.Ala119Ser					ZNF330_ENST00000421169.2_Missense_Mutation_p.A59S	p.A119S	NM_014487.4	NP_055302.1	Q9Y3S2	ZN330_HUMAN			6	583	+	all_hematologic(180;0.162)		119					B2RDA3	Missense_Mutation	SNP	ENST00000262990.4	37	c.355G>T	CCDS3754.1	.	.	.	.	.	.	.	.	.	.	G	19.63	3.863079	0.71949	.	.	ENSG00000109445	ENST00000262990;ENST00000512809;ENST00000503649;ENST00000512738;ENST00000421169	T;T;T;T;T	0.35048	1.33;1.33;1.33;1.33;1.33	5.93	5.93	0.95920	.	0.044457	0.85682	D	0.000000	T	0.46639	0.1403	M	0.79475	2.455	0.80722	D	1	B;B	0.27559	0.009;0.181	B;B	0.26864	0.012;0.074	T	0.45804	-0.9236	10	0.72032	D	0.01	-10.2504	20.3437	0.98782	0.0:0.0:1.0:0.0	.	59;119	E9PDK6;Q9Y3S2	.;ZN330_HUMAN	S	119;119;119;119;59	ENSP00000262990:A119S;ENSP00000422599:A119S;ENSP00000422966:A119S;ENSP00000422251:A119S;ENSP00000397397:A59S	ENSP00000262990:A119S	A	+	1	0	ZNF330	142370238	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	6.576000	0.74023	2.802000	0.96397	0.563000	0.77884	GCT		0.443	ZNF330-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257271.2	NM_014487		201	102	1	0	2.16601e-92	1	3.29911e-92	201	102				
GUCY2C	2984	broad.mit.edu	37	12	14766103	14766103	+	Missense_Mutation	SNP	G	G	T			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr12:14766103G>T	ENST00000261170.3	-	27	3306	c.3170C>A	c.(3169-3171)aCt>aAt	p.T1057N	RP11-695J4.2_ENST00000542401.1_RNA|RP11-695J4.2_ENST00000545424.1_RNA	NM_004963.3	NP_004954.2	P25092	GUC2C_HUMAN	guanylate cyclase 2C (heat stable enterotoxin receptor)	1057					intracellular signal transduction (GO:0035556)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of cell proliferation (GO:0042127)|response to toxic substance (GO:0009636)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|protein kinase activity (GO:0004672)|toxic substance binding (GO:0015643)			breast(3)|endometrium(7)|kidney(3)|large_intestine(9)|lung(17)|ovary(4)|skin(7)|urinary_tract(1)	51					Linaclotide(DB08890)	GTATTCCAGAGTGCCTTTTTT	0.413																																						ENST00000261170.3																			0				breast(3)|endometrium(7)|kidney(3)|large_intestine(9)|lung(17)|ovary(4)|skin(7)|urinary_tract(1)	51						c.(3169-3171)aCt>aAt		guanylate cyclase 2C (heat stable enterotoxin receptor)							235.0	233.0	233.0					12																	14766103		2203	4300	6503	SO:0001583	missense	2984				intracellular signal transduction|receptor guanylyl cyclase signaling pathway	integral to membrane	ATP binding|GTP binding|guanylate cyclase activity|protein binding|protein kinase activity|receptor activity	g.chr12:14766103G>T		CCDS8664.1	12p12	2008-08-18			ENSG00000070019	ENSG00000070019			4688	protein-coding gene	gene with protein product		601330		GUC2C		8661067	Standard	NM_004963		Approved	STAR	uc001rcd.3	P25092	OTTHUMG00000168732	ENST00000261170.3:c.3170C>A	12.37:g.14766103G>T	ENSP00000261170:p.Thr1057Asn					RP11-695J4.2_ENST00000542401.1_RNA|RP11-695J4.2_ENST00000545424.1_RNA	p.T1057N	NM_004963.3	NP_004954.2	P25092	GUC2C_HUMAN			27	3306	-			1057					B2RMY6	Missense_Mutation	SNP	ENST00000261170.3	37	c.3170C>A	CCDS8664.1	.	.	.	.	.	.	.	.	.	.	G	13.74	2.328753	0.41197	.	.	ENSG00000070019	ENST00000261170	D	0.81579	-1.51	5.85	3.0	0.34707	.	0.558395	0.20424	N	0.092609	T	0.72439	0.3460	L	0.50333	1.59	0.38869	D	0.956644	B	0.26935	0.164	B	0.24155	0.051	T	0.63514	-0.6620	10	0.21014	T	0.42	.	10.7723	0.46330	0.0674:0.2478:0.6849:0.0	.	1057	P25092	GUC2C_HUMAN	N	1057	ENSP00000261170:T1057N	ENSP00000261170:T1057N	T	-	2	0	GUCY2C	14657370	0.992000	0.36948	0.946000	0.38457	0.969000	0.65631	2.229000	0.42990	0.368000	0.24481	-0.165000	0.13383	ACT		0.413	GUCY2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400835.1			170	266	1	0	4.48428e-77	1	6.75799e-77	170	266				
PCDHGB4	8641	broad.mit.edu	37	5	140768675	140768675	+	Silent	SNP	A	A	G			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr5:140768675A>G	ENST00000519479.1	+	1	1224	c.1224A>G	c.(1222-1224)ctA>ctG	p.L408L	PCDHGA3_ENST00000253812.6_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA6_ENST00000517434.1_Intron	NM_003736.2|NM_018925.2|NM_032098.1	NP_003727.1|NP_061748.1|NP_115269.1	Q9UN71	PCDGG_HUMAN	protocadherin gamma subfamily B, 4	408	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(9)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|prostate(1)|stomach(3)|urinary_tract(2)	37			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ATGCTGTTCTAGACCGCGAGC	0.443																																						ENST00000519479.1																			0				endometrium(9)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|prostate(1)|stomach(3)|urinary_tract(2)	37						c.(1222-1224)ctA>ctG									135.0	136.0	136.0					5																	140768675		1935	4141	6076	SO:0001819	synonymous_variant	8641							g.chr5:140768675A>G	AF152520	CCDS54928.1, CCDS75337.1	5q31	2010-01-26				ENSG00000253953		"""Cadherins / Protocadherins : Clustered"""	8711	other	protocadherin	"""fibroblast cadherin FIB2"", ""cadherin 20"""	603058				10380929	Standard	NM_003736		Approved	FIB2, CDH20, PCDH-GAMMA-B4		Q9UN71		ENST00000519479.1:c.1224A>G	5.37:g.140768675A>G						PCDHGA2_ENST00000394576.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB1_ENST00000523390.1_Intron	p.L408L	NM_003736.2|NM_018925.2|NM_032098.1	NP_003727.1|NP_061748.1|NP_115269.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1224	+								O15099|Q2M267|Q9UN64	Silent	SNP	ENST00000519479.1	37	c.1224A>G	CCDS54928.1																																																																																				0.443	PCDHGB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374745.1	NM_003736		118	142	0	0	0	1	0	118	142				
DIRAS1	148252	broad.mit.edu	37	19	2717735	2717735	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr19:2717735C>T	ENST00000323469.4	-	2	253	c.70G>A	c.(70-72)Gtg>Atg	p.V24M	DIRAS1_ENST00000585334.1_Missense_Mutation_p.V24M	NM_145173.3	NP_660156.1	O95057	DIRA1_HUMAN	DIRAS family, GTP-binding RAS-like 1	24					GTP catabolic process (GO:0006184)|small GTPase mediated signal transduction (GO:0007264)	plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			kidney(1)|lung(2)|ovary(2)|prostate(1)	6				UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		AAGCGCAGCACCAGCGAGCTC	0.677																																						ENST00000323469.4																			0				kidney(1)|lung(2)|ovary(2)|prostate(1)	6						c.(70-72)Gtg>Atg		DIRAS family, GTP-binding RAS-like 1							72.0	60.0	64.0					19																	2717735		2203	4300	6503	SO:0001583	missense	148252				small GTPase mediated signal transduction	intracellular|plasma membrane	GTP binding|GTPase activity	g.chr19:2717735C>T	BC030660	CCDS12092.1	19p13.3	2014-05-09				ENSG00000176490			19127	protein-coding gene	gene with protein product		607862				12107278	Standard	NM_145173		Approved	Di-Ras1, GBTS1, RIG	uc002lwf.3	O95057		ENST00000323469.4:c.70G>A	19.37:g.2717735C>T	ENSP00000325836:p.Val24Met					DIRAS1_ENST00000585334.1_Missense_Mutation_p.V24M	p.V24M	NM_145173.3	NP_660156.1	O95057	DIRA1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	2	253	-			24						Missense_Mutation	SNP	ENST00000323469.4	37	c.70G>A	CCDS12092.1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.321045	0.81580	.	.	ENSG00000176490	ENST00000323469	T	0.79141	-1.24	3.94	3.94	0.45596	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	T	0.81912	0.4923	L	0.38692	1.165	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	D	0.84124	0.0408	10	0.87932	D	0	.	13.4639	0.61243	0.0:1.0:0.0:0.0	.	24	O95057	DIRA1_HUMAN	M	24	ENSP00000325836:V24M	ENSP00000325836:V24M	V	-	1	0	DIRAS1	2668735	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	7.539000	0.82063	1.741000	0.51731	0.448000	0.29417	GTG		0.677	DIRAS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451350.1			27	113	0	0	0	1	0	27	113				
PCDH17	27253	broad.mit.edu	37	13	58208455	58208455	+	Missense_Mutation	SNP	C	C	A			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr13:58208455C>A	ENST00000377918.3	+	1	1801	c.1775C>A	c.(1774-1776)aCc>aAc	p.T592N		NM_001040429.2	NP_001035519.1	O14917	PCD17_HUMAN	protocadherin 17	592	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		CAGAACGACACCGCGGAGCTG	0.662																																					Melanoma(72;952 1291 1619 12849 33676)	ENST00000377918.3																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120						c.(1774-1776)aCc>aAc		protocadherin 17							32.0	31.0	31.0					13																	58208455		2202	4300	6502	SO:0001583	missense	27253				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding	g.chr13:58208455C>A	AF029343	CCDS31986.1	13q21.1	2010-01-26			ENSG00000118946	ENSG00000118946		"""Cadherins / Protocadherins : Non-clustered"""	14267	protein-coding gene	gene with protein product		611760				10835267	Standard	NM_001040429		Approved	PCDH68, PCH68	uc001vhq.1	O14917	OTTHUMG00000016992	ENST00000377918.3:c.1775C>A	13.37:g.58208455C>A	ENSP00000367151:p.Thr592Asn						p.T592N	NM_001040429.2	NP_001035519.1	O14917	PCD17_HUMAN		GBM - Glioblastoma multiforme(99;1.06e-05)	1	1801	+		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)	592			Cadherin 6.		A8K1R5|Q5VVW9|Q5VVX0	Missense_Mutation	SNP	ENST00000377918.3	37	c.1775C>A	CCDS31986.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.962359	0.74016	.	.	ENSG00000118946	ENST00000377918	T	0.59772	0.24	5.63	5.63	0.86233	Cadherin (2);Cadherin-like (1);	0.000000	0.85682	D	0.000000	T	0.78691	0.4323	M	0.81497	2.545	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.78868	-0.2034	9	.	.	.	.	19.6692	0.95905	0.0:1.0:0.0:0.0	.	592;592	O14917-2;O14917	.;PCD17_HUMAN	N	592	ENSP00000367151:T592N	.	T	+	2	0	PCDH17	57106456	1.000000	0.71417	0.996000	0.52242	0.993000	0.82548	6.022000	0.70839	2.650000	0.89964	0.561000	0.74099	ACC		0.662	PCDH17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045139.1	NM_001040429		60	64	1	0	1.93748e-29	1	2.53591e-29	60	64				
MAPKAP1	79109	broad.mit.edu	37	9	128434625	128434625	+	Missense_Mutation	SNP	C	C	A			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr9:128434625C>A	ENST00000373498.1	-	1	297	c.229G>T	c.(229-231)Gac>Tac	p.D77Y	MAPKAP1_ENST00000350766.3_Missense_Mutation_p.D77Y|MAPKAP1_ENST00000265960.3_Missense_Mutation_p.D77Y|MAPKAP1_ENST00000394060.3_Missense_Mutation_p.D77Y|MAPKAP1_ENST00000373511.2_Missense_Mutation_p.D77Y|MAPKAP1_ENST00000394063.1_Intron|MAPKAP1_ENST00000373503.3_Intron			Q9BPZ7	SIN1_HUMAN	mitogen-activated protein kinase associated protein 1	77	Interaction with MAP3K2.|Interaction with NBN.			WDFGIRRRSNT -> ADPARSVEAAS (in Ref. 9; AAA36551). {ECO:0000305}.	epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|negative regulation of Ras protein signal transduction (GO:0046580)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|substantia nigra development (GO:0021762)|T cell costimulation (GO:0031295)	cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	phosphatidic acid binding (GO:0070300)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|phosphatidylinositol-3,4-bisphosphate binding (GO:0043325)|phosphatidylinositol-3,5-bisphosphate binding (GO:0080025)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein kinase binding (GO:0019901)|Ras GTPase binding (GO:0017016)			endometrium(2)|kidney(1)|large_intestine(2)|lung(15)|ovary(3)	23						ATACCAAAGTCCCAACTTGAG	0.413																																						ENST00000265960.3																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(15)|ovary(3)	23						c.(229-231)Gac>Tac		mitogen-activated protein kinase associated protein 1							124.0	100.0	108.0					9																	128434625		2203	4300	6503	SO:0001583	missense	79109				nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling|response to stress|T cell costimulation	cytoplasmic membrane-bounded vesicle|cytosol|nucleus|plasma membrane	Ras GTPase binding	g.chr9:128434625C>A	M37191	CCDS6864.1, CCDS35139.1, CCDS35140.1, CCDS35141.1, CCDS48020.1	9q34.11	2008-02-05			ENSG00000119487	ENSG00000119487			18752	protein-coding gene	gene with protein product	"""stress-activated protein kinase-interacting 1"""	610558				15363842	Standard	NM_001006620		Approved	MGC2745, SIN1, MIP1	uc004bpv.3	Q9BPZ7	OTTHUMG00000020683	ENST00000373498.1:c.229G>T	9.37:g.128434625C>A	ENSP00000362597:p.Asp77Tyr					MAPKAP1_ENST00000394060.3_Missense_Mutation_p.D77Y|MAPKAP1_ENST00000373511.2_Missense_Mutation_p.D77Y|MAPKAP1_ENST00000373498.1_Missense_Mutation_p.D77Y|MAPKAP1_ENST00000373503.3_Intron|MAPKAP1_ENST00000394063.1_Intron|MAPKAP1_ENST00000350766.3_Missense_Mutation_p.D77Y	p.D77Y	NM_001006617.1	NP_001006618.1	Q9BPZ7	SIN1_HUMAN			2	561	-			77	WDFGIRRRSNT -> ADPARSVEAAS (in Ref. 9; AAA36551).		Interaction with MAP3K2.		A8K1Z5|B1AMA4|B7Z309|Q00426|Q5JSV5|Q5JSV6|Q5JSV9|Q658R0|Q699U1|Q699U2|Q699U3|Q699U4|Q6GVJ0|Q6GVJ1|Q6GVJ2	Missense_Mutation	SNP	ENST00000373498.1	37	c.229G>T	CCDS35140.1	.	.	.	.	.	.	.	.	.	.	C	26.1	4.706477	0.89018	.	.	ENSG00000119487	ENST00000373511;ENST00000350766;ENST00000373498;ENST00000265960;ENST00000373505;ENST00000394060;ENST00000433483	.	.	.	5.8	5.8	0.92144	.	0.000000	0.85682	D	0.000000	D	0.82921	0.5142	M	0.75264	2.295	0.80722	D	1	D;D;D;D	0.89917	1.0;0.999;1.0;1.0	D;D;D;D	0.91635	0.999;0.987;0.99;0.996	D	0.83827	0.0250	9	0.87932	D	0	-0.3046	20.0608	0.97674	0.0:1.0:0.0:0.0	.	77;77;77;77	Q9BPZ7-5;Q9BPZ7-3;Q9BPZ7-2;Q9BPZ7	.;.;.;SIN1_HUMAN	Y	77;77;77;77;32;77;77	.	ENSP00000265960:D77Y	D	-	1	0	MAPKAP1	127474446	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.280000	0.78610	2.733000	0.93635	0.650000	0.86243	GAC		0.413	MAPKAP1-009	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000054092.1			46	53	1	0	2.64894e-19	1	3.25789e-19	46	53				
PGM2	55276	broad.mit.edu	37	4	37848718	37848718	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr4:37848718G>A	ENST00000381967.4	+	9	1274	c.1174G>A	c.(1174-1176)Ggt>Agt	p.G392S	PGM2_ENST00000544359.1_Missense_Mutation_p.G253S|PGM2_ENST00000537241.1_Missense_Mutation_p.G232S	NM_018290.3	NP_060760.2	Q96G03	PGM2_HUMAN	phosphoglucomutase 2	392					carbohydrate metabolic process (GO:0005975)|deoxyribose phosphate catabolic process (GO:0046386)|galactose catabolic process (GO:0019388)|glucose metabolic process (GO:0006006)|glycogen biosynthetic process (GO:0005978)|glycogen catabolic process (GO:0005980)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	magnesium ion binding (GO:0000287)|phosphoglucomutase activity (GO:0004614)|phosphopentomutase activity (GO:0008973)			breast(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(2)|urinary_tract(1)	19						CTTAAAGGAAGGTTTTCATTT	0.448																																						ENST00000381967.4																			0				breast(1)|kidney(2)|large_intestine(3)|lung(10)|ovary(2)|urinary_tract(1)	19						c.(1174-1176)Ggt>Agt		phosphoglucomutase 2							116.0	117.0	117.0					4																	37848718		2203	4300	6503	SO:0001583	missense	55276				glucose 1-phosphate metabolic process|glycogen biosynthetic process|glycogen catabolic process	cytosol	magnesium ion binding|phosphoglucomutase activity|phosphopentomutase activity	g.chr4:37848718G>A	BC010087	CCDS3443.1	4p14	2012-10-02			ENSG00000169299	ENSG00000169299	5.4.2.2		8906	protein-coding gene	gene with protein product	"""phosphopentomutase"""	172000				9549096	Standard	NM_018290		Approved	FLJ10983	uc011byb.1	Q96G03	OTTHUMG00000097813	ENST00000381967.4:c.1174G>A	4.37:g.37848718G>A	ENSP00000371393:p.Gly392Ser					PGM2_ENST00000544359.1_Missense_Mutation_p.G253S|PGM2_ENST00000537241.1_Missense_Mutation_p.G232S	p.G392S	NM_018290.3	NP_060760.2	Q96G03	PGM2_HUMAN			9	1274	+			392					B4E0G8|Q53FP5|Q5QTR0|Q9H0P9|Q9NV22	Missense_Mutation	SNP	ENST00000381967.4	37	c.1174G>A	CCDS3443.1	.	.	.	.	.	.	.	.	.	.	G	31	5.094366	0.94149	.	.	ENSG00000169299	ENST00000381967;ENST00000544359;ENST00000537241	T;T;T	0.54675	0.56;0.56;0.56	5.68	5.68	0.88126	Alpha-D-phosphohexomutase, alpha/beta/alpha I/II/III (2);Alpha-D-phosphohexomutase, alpha/beta/alpha domain III (1);	0.000000	0.85682	D	0.000000	T	0.76248	0.3961	M	0.83312	2.635	0.80722	D	1	D;D	0.76494	0.998;0.999	D;D	0.72982	0.979;0.979	T	0.78563	-0.2156	10	0.66056	D	0.02	-15.752	19.8043	0.96521	0.0:0.0:1.0:0.0	.	392;253	Q96G03;B4E0G8	PGM2_HUMAN;.	S	392;253;232	ENSP00000371393:G392S;ENSP00000438025:G253S;ENSP00000437342:G232S	ENSP00000371393:G392S	G	+	1	0	PGM2	37525113	1.000000	0.71417	0.991000	0.47740	0.772000	0.43724	9.776000	0.99001	2.683000	0.91414	0.655000	0.94253	GGT		0.448	PGM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000215079.2	NM_018290		106	173	0	0	0	1	0	106	173				
OR5D16	390144	broad.mit.edu	37	11	55606973	55606973	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr11:55606973C>T	ENST00000378396.1	+	1	746	c.746C>T	c.(745-747)gCc>gTc	p.A249V		NM_001005496.1	NP_001005496.1	Q8NGK9	OR5DG_HUMAN	olfactory receptor, family 5, subfamily D, member 16	249						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			cervix(1)|endometrium(2)|large_intestine(4)|lung(26)|ovary(5)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	44		all_epithelial(135;0.208)				CACCTGACTGCCATCACCATC	0.507																																						ENST00000378396.1																			0				cervix(1)|endometrium(2)|large_intestine(4)|lung(26)|ovary(5)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	44						c.(745-747)gCc>gTc		olfactory receptor, family 5, subfamily D, member 16							143.0	123.0	129.0					11																	55606973		2201	4296	6497	SO:0001583	missense	390144				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55606973C>T	AB065783	CCDS31512.1	11q11	2012-08-09			ENSG00000205029	ENSG00000205029		"""GPCR / Class A : Olfactory receptors"""	15283	protein-coding gene	gene with protein product							Standard	NM_001005496		Approved		uc010rio.2	Q8NGK9	OTTHUMG00000154233	ENST00000378396.1:c.746C>T	11.37:g.55606973C>T	ENSP00000367649:p.Ala249Val						p.A249V	NM_001005496.1	NP_001005496.1	Q8NGK9	OR5DG_HUMAN			1	746	+		all_epithelial(135;0.208)	249					Q6IF65|Q96RB4	Missense_Mutation	SNP	ENST00000378396.1	37	c.746C>T	CCDS31512.1	.	.	.	.	.	.	.	.	.	.	.	12.23	1.874469	0.33069	.	.	ENSG00000205029	ENST00000378396	T	0.00021	9.03	4.43	3.5	0.40072	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00144	0.0004	N	0.17800	0.525	0.09310	N	1	B	0.31503	0.326	P	0.46452	0.517	T	0.13548	-1.0505	9	0.41790	T	0.15	-13.177	4.354	0.11169	0.1921:0.6293:0.0:0.1786	.	249	Q8NGK9	OR5DG_HUMAN	V	249	ENSP00000367649:A249V	ENSP00000367649:A249V	A	+	2	0	OR5D16	55363549	0.539000	0.26402	0.011000	0.14972	0.574000	0.36063	0.878000	0.28126	0.973000	0.38340	0.537000	0.68136	GCC		0.507	OR5D16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334506.1	NM_001005496		47	175	0	0	0	1	0	47	175				
SGCZ	137868	broad.mit.edu	37	8	13947988	13947988	+	Silent	SNP	A	A	T			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr8:13947988A>T	ENST00000382080.1	-	8	1618	c.903T>A	c.(901-903)acT>acA	p.T301T	SGCZ_ENST00000421524.2_Silent_p.T254T	NM_139167.2	NP_631906.2	Q96LD1	SGCZ_HUMAN	sarcoglycan, zeta	288					membrane organization (GO:0061024)|muscle cell cellular homeostasis (GO:0046716)|muscle cell development (GO:0055001)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|sarcoglycan complex (GO:0016012)				NS(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(14)|lung(15)|ovary(2)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	47				all cancers(2;0.000643)|Colorectal(111;0.00674)|COAD - Colon adenocarcinoma(73;0.0193)|GBM - Glioblastoma multiforme(2;0.026)		TGGACTGACAAGTGGAACCTA	0.498																																						ENST00000382080.1																			0				NS(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(14)|lung(15)|ovary(2)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	47						c.(901-903)acT>acA		sarcoglycan, zeta							176.0	163.0	167.0					8																	13947988		2203	4300	6503	SO:0001819	synonymous_variant	137868				cytoskeleton organization	cytoplasm|cytoskeleton|integral to membrane|sarcolemma		g.chr8:13947988A>T	AY028700	CCDS5992.2	8p22	2014-09-17	2010-04-21		ENSG00000185053	ENSG00000185053			14075	protein-coding gene	gene with protein product		608113				12189167	Standard	XM_006716287		Approved	ZSG1	uc003wwq.3	Q96LD1	OTTHUMG00000090827	ENST00000382080.1:c.903T>A	8.37:g.13947988A>T						SGCZ_ENST00000421524.2_Silent_p.T254T	p.T301T	NM_139167.2	NP_631906.2	Q96LD1	SGCZ_HUMAN		all cancers(2;0.000643)|Colorectal(111;0.00674)|COAD - Colon adenocarcinoma(73;0.0193)|GBM - Glioblastoma multiforme(2;0.026)	8	1618	-			288					Q6REU0	Silent	SNP	ENST00000382080.1	37	c.903T>A	CCDS5992.2																																																																																				0.498	SGCZ-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207636.2	NM_139167		76	188	0	0	0	1	0	76	188				
MAP2K3	5606	broad.mit.edu	37	17	21215473	21215473	+	Missense_Mutation	SNP	G	G	C			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr17:21215473G>C	ENST00000342679.4	+	10	1043	c.794G>C	c.(793-795)cGg>cCg	p.R265P	MAP2K3_ENST00000316920.6_Missense_Mutation_p.R236P|MAP2K3_ENST00000361818.5_Missense_Mutation_p.R236P	NM_145109.2	NP_659731.1	P46734	MP2K3_HUMAN	mitogen-activated protein kinase kinase 3	265	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPK activity (GO:0000187)|cardiac muscle contraction (GO:0060048)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cytokine biosynthetic process (GO:0042035)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|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)|membrane (GO:0016020)|nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|MAP kinase kinase activity (GO:0004708)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)								COAD - Colon adenocarcinoma(3;0.0131)|Colorectal(15;0.0553)		GCCATCCTGCGGTTCCCTTAC	0.672																																						ENST00000342679.4																			0											c.(793-795)cGg>cCg		mitogen-activated protein kinase kinase 3							62.0	61.0	61.0					17																	21215473		2203	4300	6503	SO:0001583	missense	5606				activation of MAPK activity|innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|positive regulation of transcription, DNA-dependent|stress-activated MAPK cascade|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|MAP kinase kinase activity|protein binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr17:21215473G>C	L36719	CCDS11217.1, CCDS11218.1	17q11.2	2011-06-09			ENSG00000034152	ENSG00000034152		"""Mitogen-activated protein kinase cascade / Kinase kinases"""	6843	protein-coding gene	gene with protein product	"""MAPK/ERK kinase 3"", ""MAP kinase kinase 3"", ""dual specificity mitogen activated protein kinase kinase 3"""	602315		PRKMK3		9465908	Standard	NM_145109		Approved	MEK3, MKK3, MAPKK3	uc002gys.3	P46734	OTTHUMG00000134322	ENST00000342679.4:c.794G>C	17.37:g.21215473G>C	ENSP00000345083:p.Arg265Pro					MAP2K3_ENST00000316920.6_Missense_Mutation_p.R236P|MAP2K3_ENST00000361818.5_Missense_Mutation_p.R236P	p.R265P	NM_145109.2	NP_659731.1	P46734	MP2K3_HUMAN		COAD - Colon adenocarcinoma(3;0.0131)|Colorectal(15;0.0553)	10	1043	+			265			Protein kinase.		B3KSK7|Q99441|Q9UE71|Q9UE72	Missense_Mutation	SNP	ENST00000342679.4	37	c.794G>C	CCDS11217.1	.	.	.	.	.	.	.	.	.	.	G	17.01	3.279635	0.59758	.	.	ENSG00000034152	ENST00000342679;ENST00000395491;ENST00000361818;ENST00000316920	T;T	0.67698	-0.28;-0.28	5.83	5.83	0.93111	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.64402	D	0.000015	T	0.80732	0.4679	M	0.77313	2.365	0.52501	D	0.999959	D	0.63046	0.992	D	0.65987	0.94	T	0.82182	-0.0584	10	0.66056	D	0.02	-27.9416	14.2913	0.66281	0.0709:0.0:0.9291:0.0	.	265	P46734	MP2K3_HUMAN	P	265;236;236;269	ENSP00000345083:R265P;ENSP00000355081:R236P	ENSP00000319139:R269P	R	+	2	0	MAP2K3	21156066	0.886000	0.30341	0.353000	0.25747	0.734000	0.41952	2.687000	0.46976	2.747000	0.94245	0.650000	0.86243	CGG		0.672	MAP2K3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259374.2	NM_145109		8	140	0	0	0	1	0	8	140				
CCT6P1	643253	broad.mit.edu	37	7	65222986	65222986	+	RNA	SNP	G	G	T			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr7:65222986G>T	ENST00000442266.1	+	0	578				SNORA15_ENST00000384058.1_RNA|SNORA22_ENST00000383907.1_RNA					chaperonin containing TCP1, subunit 6 (zeta) pseudogene 1																		GAATTCTGGCGTTTTTTACAA	0.289																																						ENST00000442266.1																			0																																																			643253							g.chr7:65222986G>T	BC052238, BC073761		7q11.21	2010-06-29	2008-09-22	2008-09-22	ENSG00000228409	ENSG00000228409			33094	pseudogene	pseudogene			"""chaperonin containing TCP1, subunit 6A (zeta 1) pseudogene 1"""	CCT6AP1			Standard	NR_003110		Approved		uc003tug.3		OTTHUMG00000156733		7.37:g.65222986G>T														0	578	+									RNA	SNP	ENST00000442266.1	37																																																																																						0.289	CCT6P1-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000345507.1	NR_003110		5	19	1	0	2.0095e-06	1	2.108e-06	5	19				
AFF3	3899	broad.mit.edu	37	2	100203726	100203726	+	Silent	SNP	G	G	A			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr2:100203726G>A	ENST00000409236.2	-	14	2593	c.2481C>T	c.(2479-2481)gaC>gaT	p.D827D	AFF3_ENST00000409579.1_Silent_p.D852D|AFF3_ENST00000356421.2_Silent_p.D852D|AFF3_ENST00000317233.4_Silent_p.D827D			P51826	AFF3_HUMAN	AF4/FMR2 family, member 3	827					embryonic hindlimb morphogenesis (GO:0035116)|regulation of transcription, DNA-templated (GO:0006355)|response to tumor necrosis factor (GO:0034612)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)			NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						CCCTGTAGTCGTCTTCGTTGT	0.473																																						ENST00000317233.4																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						c.(2479-2481)gaC>gaT		AF4/FMR2 family, member 3							263.0	224.0	237.0					2																	100203726		2203	4300	6503	SO:0001819	synonymous_variant	3899				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr2:100203726G>A	U34360	CCDS33258.1, CCDS42723.1	2q11.2-q12	2008-02-05	2005-06-27	2005-06-27	ENSG00000144218	ENSG00000144218			6473	protein-coding gene	gene with protein product		601464	"""lymphoid nuclear protein related to AF4"""	LAF4		8662235, 8555498	Standard	XM_005263945		Approved	MLLT2-like	uc002taf.3	P51826	OTTHUMG00000153011	ENST00000409236.2:c.2481C>T	2.37:g.100203726G>A						AFF3_ENST00000356421.2_Silent_p.D852D|AFF3_ENST00000409579.1_Silent_p.D852D|AFF3_ENST00000409236.1_Silent_p.D827D	p.D827D	NM_002285.2	NP_002276.2	P51826	AFF3_HUMAN			15	2716	-			827					B7ZM46|B9EGL9|D3DVI6|Q53RD6|Q53S47|Q53SI6|Q53TB9|Q59F27|Q8IWJ5	Silent	SNP	ENST00000409236.2	37	c.2481C>T	CCDS42723.1																																																																																				0.473	AFF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328982.3	NM_002285		228	271	0	0	0	1	0	228	271				
CUL4B	8450	broad.mit.edu	37	X	119672603	119672603	+	Missense_Mutation	SNP	G	G	T			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chrX:119672603G>T	ENST00000404115.3	-	15	2219	c.1818C>A	c.(1816-1818)ttC>ttA	p.F606L	CUL4B_ENST00000371322.5_Missense_Mutation_p.F588L|CUL4B_ENST00000336592.6_Missense_Mutation_p.F593L	NM_003588.3	NP_003579.3	Q13620	CUL4B_HUMAN	cullin 4B	606					cell cycle (GO:0007049)|histone H2A monoubiquitination (GO:0035518)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|positive regulation of protein catabolic process (GO:0045732)|ubiquitin-dependent protein catabolic process (GO:0006511)|UV-damage excision repair (GO:0070914)	Cul4B-RING E3 ubiquitin ligase complex (GO:0031465)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						CTTTCTTATAGAAGGCCTCAA	0.333																																						ENST00000371322.5																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(7)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						c.(1762-1764)ttC>ttA		cullin 4B							82.0	81.0	82.0					X																	119672603		2203	4300	6503	SO:0001583	missense	8450				cell cycle|DNA repair|ubiquitin-dependent protein catabolic process	Cul4B-RING ubiquitin ligase complex|nucleus	protein binding|ubiquitin protein ligase binding	g.chrX:119672603G>T	U58091	CCDS35379.1, CCDS43987.1	Xq23	2011-05-24			ENSG00000158290	ENSG00000158290			2555	protein-coding gene	gene with protein product		300304				8681378	Standard	NM_003588		Approved		uc004esw.3	Q13620	OTTHUMG00000022302	ENST00000404115.3:c.1818C>A	X.37:g.119672603G>T	ENSP00000384109:p.Phe606Leu					CUL4B_ENST00000404115.3_Missense_Mutation_p.F606L|CUL4B_ENST00000336592.6_Missense_Mutation_p.F593L	p.F588L	NM_001079872.1	NP_001073341.1	Q13620	CUL4B_HUMAN			13	1825	-			606					B1APK5|B3KVX4|B7Z5K8|Q6PIE4|Q6UP07|Q7Z673|Q9BY37|Q9UEB7|Q9UED7	Missense_Mutation	SNP	ENST00000404115.3	37	c.1764C>A	CCDS35379.1	.	.	.	.	.	.	.	.	.	.	G	16.35	3.097946	0.56183	.	.	ENSG00000158290	ENST00000371322;ENST00000336592;ENST00000404115	T;T;T	0.75477	-0.94;-0.94;-0.94	5.51	2.24	0.28232	Cullin, N-terminal (1);Cullin homology (3);	0.000000	0.85682	D	0.000000	D	0.88179	0.6367	H	0.95365	3.66	0.58432	D	0.999999	D;D;D	0.89917	0.98;1.0;1.0	P;D;D	0.91635	0.865;0.999;0.999	D	0.87553	0.2466	9	.	.	.	-10.0187	8.6886	0.34254	0.3852:0.0:0.6148:0.0	.	410;606;588	Q13620-3;Q13620;Q13620-1	.;CUL4B_HUMAN;.	L	588;593;606	ENSP00000360373:F588L;ENSP00000338919:F593L;ENSP00000384109:F606L	.	F	-	3	2	CUL4B	119556631	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	1.157000	0.31724	0.488000	0.27723	-0.199000	0.12753	TTC		0.333	CUL4B-001	KNOWN	non_canonical_conserved|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000058103.1	NM_003588		80	24	1	0	2.09386e-48	1	2.96746e-48	80	24				
PTPRR	5801	broad.mit.edu	37	12	71158516	71158516	+	Missense_Mutation	SNP	G	G	C	rs139968754		TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr12:71158516G>C	ENST00000283228.2	-	3	852	c.400C>G	c.(400-402)Cgg>Ggg	p.R134G	PTPRR_ENST00000342084.4_Missense_Mutation_p.R22G	NM_002849.3	NP_002840.2	Q15256	PTPRR_HUMAN	protein tyrosine phosphatase, receptor type, R	134					ERBB2 signaling pathway (GO:0038128)|in utero embryonic development (GO:0001701)|negative regulation of epithelial cell migration (GO:0010633)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	41			GBM - Glioblastoma multiforme(2;5.67e-07)|Lung(24;0.00283)|OV - Ovarian serous cystadenocarcinoma(12;0.00578)|LUSC - Lung squamous cell carcinoma(43;0.132)	COAD - Colon adenocarcinoma(1;0.136)		CGGAAGATCCGAAGCAAGGTT	0.383																																						ENST00000283228.2																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	41						c.(400-402)Cgg>Ggg		protein tyrosine phosphatase, receptor type, R							119.0	103.0	108.0					12																	71158516		2203	4300	6503	SO:0001583	missense	5801				in utero embryonic development	cell surface|Golgi apparatus|integral to membrane|nucleus|perinuclear region of cytoplasm|plasma membrane	protein kinase binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr12:71158516G>C	D64053	CCDS8998.1, CCDS44945.1, CCDS55847.1, CCDS55848.1	12q15	2011-10-07			ENSG00000153233	ENSG00000153233		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"""	9680	protein-coding gene	gene with protein product		602853		PTPRQ		7557444, 10393441	Standard	NM_002849		Approved	PTPBR7, PTP-SL, EC-PTP, PCPTP1	uc001swi.2	Q15256	OTTHUMG00000169502	ENST00000283228.2:c.400C>G	12.37:g.71158516G>C	ENSP00000283228:p.Arg134Gly					PTPRR_ENST00000342084.4_Missense_Mutation_p.R22G	p.R134G	NM_002849.3	NP_002840.2	Q15256	PTPRR_HUMAN	GBM - Glioblastoma multiforme(2;5.67e-07)|Lung(24;0.00283)|OV - Ovarian serous cystadenocarcinoma(12;0.00578)|LUSC - Lung squamous cell carcinoma(43;0.132)	COAD - Colon adenocarcinoma(1;0.136)	3	852	-			134					B2R5Z7|B7Z3J1|F5GXR7|O00342|Q92682|Q9UE65	Missense_Mutation	SNP	ENST00000283228.2	37	c.400C>G	CCDS8998.1	.	.	.	.	.	.	.	.	.	.	G	16.58	3.163650	0.57476	.	.	ENSG00000153233	ENST00000283228;ENST00000342084	T;T	0.04454	3.62;3.85	5.86	4.95	0.65309	.	0.161559	0.29040	U	0.013325	T	0.04634	0.0126	L	0.27053	0.805	0.80722	D	1	B;P	0.41524	0.447;0.753	B;B	0.33960	0.162;0.173	T	0.42292	-0.9460	10	0.87932	D	0	-5.3967	16.1668	0.81768	0.0:0.0:0.8655:0.1345	.	22;134	F5GXR7;Q15256	.;PTPRR_HUMAN	G	134;22	ENSP00000283228:R134G;ENSP00000339605:R22G	ENSP00000283228:R134G	R	-	1	2	PTPRR	69444783	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.694000	0.68272	1.437000	0.47472	0.643000	0.83706	CGG		0.383	PTPRR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404485.1	NM_002849		55	98	0	0	0	1	0	55	98				
ANO5	203859	broad.mit.edu	37	11	22296134	22296134	+	Missense_Mutation	SNP	C	C	A	rs373471188		TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr11:22296134C>A	ENST00000324559.8	+	20	2572	c.2255C>A	c.(2254-2256)aCg>aAg	p.T752K	ANO5_ENST00000532043.1_3'UTR	NM_001142649.1|NM_213599.2	NP_001136121.1|NP_998764.1	Q75V66	ANO5_HUMAN	anoctamin 5	752					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	intracellular calcium activated chloride channel activity (GO:0005229)			breast(2)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(12)|lung(36)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						GTTGCATTTACGTCAGACATC	0.363																																						ENST00000324559.8																			0				breast(2)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(12)|lung(36)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						c.(2254-2256)aCg>aAg		anoctamin 5							114.0	103.0	107.0					11																	22296134		2203	4300	6503	SO:0001583	missense	203859					chloride channel complex|endoplasmic reticulum membrane	chloride channel activity	g.chr11:22296134C>A	AL833271	CCDS31444.1	11p15.1	2014-09-17	2008-08-28	2008-08-28	ENSG00000171714	ENSG00000171714		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	27337	protein-coding gene	gene with protein product		608662	"""transmembrane protein 16E"", ""limb girdle muscular dystrophy 2L (autosomal recessive)"""	TMEM16E, LGMD2L		15067359, 20096397, 24692353	Standard	NM_213599		Approved	GDD1	uc001mqi.2	Q75V66	OTTHUMG00000166051	ENST00000324559.8:c.2255C>A	11.37:g.22296134C>A	ENSP00000315371:p.Thr752Lys					ANO5_ENST00000532043.1_3'UTR	p.T752K	NM_001142649.1|NM_213599.2	NP_001136121.1|NP_998764.1	Q75V66	ANO5_HUMAN			20	2572	+			752						Missense_Mutation	SNP	ENST00000324559.8	37	c.2255C>A	CCDS31444.1	.	.	.	.	.	.	.	.	.	.	C	22.5	4.301747	0.81136	.	.	ENSG00000171714	ENST00000324559	T	0.65364	-0.15	5.24	5.24	0.73138	.	0.000000	0.85682	D	0.000000	D	0.86024	0.5834	H	0.95679	3.705	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.90071	0.4163	10	0.87932	D	0	.	19.2413	0.93886	0.0:1.0:0.0:0.0	.	752	Q75V66	ANO5_HUMAN	K	752	ENSP00000315371:T752K	ENSP00000315371:T752K	T	+	2	0	ANO5	22252710	1.000000	0.71417	0.914000	0.36105	0.509000	0.34042	5.986000	0.70563	2.614000	0.88457	0.555000	0.69702	ACG		0.363	ANO5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387615.1	NM_213599		43	49	1	0	3.68427e-32	1	4.8971e-32	43	49				
CPT1C	126129	broad.mit.edu	37	19	50216783	50216783	+	Missense_Mutation	SNP	A	A	T			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr19:50216783A>T	ENST00000392518.4	+	20	2705	c.2333A>T	c.(2332-2334)gAg>gTg	p.E778V	CPT1C_ENST00000598293.1_Missense_Mutation_p.E778V|CPT1C_ENST00000354199.5_Missense_Mutation_p.E689V|CPT1C_ENST00000405931.2_Missense_Mutation_p.E767V|CPT1C_ENST00000323446.5_Missense_Mutation_p.E778V	NM_001199752.1	NP_001186681.1	Q8TCG5	CPT1C_HUMAN	carnitine palmitoyltransferase 1C	778					carnitine metabolic process (GO:0009437)|fatty acid beta-oxidation (GO:0006635)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|endoplasmic reticulum membrane (GO:0005789)|mitochondrial outer membrane (GO:0005741)|synapse (GO:0045202)	carnitine O-palmitoyltransferase activity (GO:0004095)			breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.0011)|GBM - Glioblastoma multiforme(134;0.00786)		TCAGGGAAGGAGAACTCCAGG	0.607																																						ENST00000392518.4																			0				breast(1)|central_nervous_system(3)|endometrium(3)|kidney(1)|lung(12)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	27						c.(2332-2334)gAg>gTg		carnitine palmitoyltransferase 1C							98.0	85.0	89.0					19																	50216783		2203	4300	6503	SO:0001583	missense	126129				fatty acid metabolic process	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity	g.chr19:50216783A>T	AF357970	CCDS12779.1, CCDS46147.1	19q13.33	2014-03-14				ENSG00000169169			18540	protein-coding gene	gene with protein product		608846				12376098, 11001805	Standard	NM_001136052		Approved	FLJ23809, CPTIC, CPT1P	uc010eng.3	Q8TCG5		ENST00000392518.4:c.2333A>T	19.37:g.50216783A>T	ENSP00000376303:p.Glu778Val					CPT1C_ENST00000598293.1_Missense_Mutation_p.E778V|CPT1C_ENST00000354199.5_Missense_Mutation_p.E689V|CPT1C_ENST00000405931.2_Missense_Mutation_p.E767V|CPT1C_ENST00000323446.5_Missense_Mutation_p.E778V	p.E778V	NM_001199752.1	NP_001186681.1	Q8TCG5	CPT1C_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0011)|GBM - Glioblastoma multiforme(134;0.00786)	20	2705	+		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)	778					A8K0Z8|Q5K6N5|Q8N6Q9|Q8NDS6|Q8TE84	Missense_Mutation	SNP	ENST00000392518.4	37	c.2333A>T	CCDS12779.1	.	.	.	.	.	.	.	.	.	.	A	10.87	1.474125	0.26423	.	.	ENSG00000169169	ENST00000392518;ENST00000354199;ENST00000405931;ENST00000323446	D;D;D;D	0.84730	-1.88;-1.89;-1.89;-1.88	3.76	2.71	0.32032	.	0.415201	0.17619	N	0.167820	T	0.66458	0.2791	N	0.08118	0	0.09310	N	1	B;B	0.32620	0.378;0.261	B;B	0.29267	0.1;0.046	T	0.57734	-0.7760	10	0.40728	T	0.16	.	6.5308	0.22326	0.7866:0.0:0.0:0.2134	.	767;778	Q8TCG5-2;Q8TCG5	.;CPT1C_HUMAN	V	778;689;767;778	ENSP00000376303:E778V;ENSP00000346138:E689V;ENSP00000384465:E767V;ENSP00000319343:E778V	ENSP00000319343:E778V	E	+	2	0	CPT1C	54908595	0.000000	0.05858	0.001000	0.08648	0.015000	0.08874	0.587000	0.23909	0.771000	0.33359	0.260000	0.18958	GAG		0.607	CPT1C-008	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465873.1	NM_152359		234	174	0	0	0	1	0	234	174				
PDZD2	23037	broad.mit.edu	37	5	31983413	31983413	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr5:31983413C>T	ENST00000438447.1	+	3	1017	c.629C>T	c.(628-630)gCg>gTg	p.A210V	PDZD2_ENST00000282493.3_Missense_Mutation_p.A210V			O15018	PDZD2_HUMAN	PDZ domain containing 2	210					cell adhesion (GO:0007155)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|nucleus (GO:0005634)		p.A210V(2)		NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						GACCGAACTGCGAAAAAGGGG	0.542																																						ENST00000438447.1																			2	Substitution - Missense(2)	p.A210V(2)	large_intestine(2)	NS(2)|breast(4)|central_nervous_system(5)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(31)|lung(58)|ovary(6)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	148						c.(628-630)gCg>gTg		PDZ domain containing 2							90.0	88.0	89.0					5																	31983413		2203	4300	6503	SO:0001583	missense	23037				cell adhesion	cell-cell junction|endoplasmic reticulum|extracellular region|nucleus		g.chr5:31983413C>T	AB002298	CCDS34137.1	5p14.1	2008-02-05	2006-01-24	2006-01-24		ENSG00000133401			18486	protein-coding gene	gene with protein product		610697	"""PDZ domain containing 3"""	PDZK3		9205841	Standard	XM_005248271		Approved	KIAA0300	uc003jhm.3	O15018		ENST00000438447.1:c.629C>T	5.37:g.31983413C>T	ENSP00000402033:p.Ala210Val					PDZD2_ENST00000282493.3_Missense_Mutation_p.A210V	p.A210V			O15018	PDZD2_HUMAN			3	1017	+			210					Q9BXD4	Missense_Mutation	SNP	ENST00000438447.1	37	c.629C>T	CCDS34137.1	.	.	.	.	.	.	.	.	.	.	C	0.014	-1.579072	0.00879	.	.	ENSG00000133401	ENST00000438447;ENST00000382161;ENST00000282493	T;T	0.66995	-0.24;-0.24	5.23	0.891	0.19224	.	0.842448	0.10159	N	0.708614	T	0.34308	0.0893	N	0.01874	-0.695	0.09310	N	1	B;B	0.12630	0.004;0.006	B;B	0.08055	0.003;0.002	T	0.20571	-1.0271	10	0.25751	T	0.34	.	5.2417	0.15475	0.0:0.5379:0.1728:0.2893	.	36;210	B4E3P2;O15018	.;PDZD2_HUMAN	V	210	ENSP00000402033:A210V;ENSP00000282493:A210V	ENSP00000282493:A210V	A	+	2	0	PDZD2	32019170	0.713000	0.27926	0.013000	0.15412	0.092000	0.18411	2.415000	0.44635	0.282000	0.22254	-0.172000	0.13284	GCG		0.542	PDZD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366608.1			97	149	0	0	0	1	0	97	149				
ABCA8	10351	broad.mit.edu	37	17	66880537	66880537	+	Splice_Site	SNP	G	G	A			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr17:66880537G>A	ENST00000269080.2	-	26	3567	c.3430C>T	c.(3430-3432)Ctt>Ttt	p.L1144F	ABCA8_ENST00000430352.2_Splice_Site_p.L1184F|ABCA8_ENST00000586539.1_Splice_Site_p.L1184F	NM_007168.2	NP_009099.1	O94911	ABCA8_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 8	1144					transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)			breast(3)|central_nervous_system(2)|endometrium(9)|kidney(5)|large_intestine(19)|liver(1)|lung(30)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|urinary_tract(4)	83	Breast(10;4.56e-13)					GAAAAGAGAAGCTGCAAAAGA	0.353																																						ENST00000269080.2																			0				breast(3)|central_nervous_system(2)|endometrium(9)|kidney(5)|large_intestine(19)|liver(1)|lung(30)|ovary(3)|pancreas(2)|prostate(2)|skin(3)|urinary_tract(4)	83						c.e26-1		ATP-binding cassette, sub-family A (ABC1), member 8							63.0	75.0	71.0					17																	66880537		2192	4291	6483	SO:0001630	splice_region_variant	10351					integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr17:66880537G>A	AB020629	CCDS11680.1, CCDS74138.1, CCDS74139.1	17q24	2012-03-14			ENSG00000141338	ENSG00000141338		"""ATP binding cassette transporters / subfamily A"""	38	protein-coding gene	gene with protein product		612505					Standard	XM_005256938		Approved	KIAA0822	uc002jhp.3	O94911		ENST00000269080.2:c.3430-1C>T	17.37:g.66880537G>A						ABCA8_ENST00000586539.1_Splice_Site_p.L1184_splice|ABCA8_ENST00000430352.2_Splice_Site_p.L1184_splice	p.L1144_splice	NM_007168.2	NP_009099.1	O94911	ABCA8_HUMAN			26	3567	-	Breast(10;4.56e-13)		1144					A1L3U3|C9JQE6|Q86WW0	Splice_Site	SNP	ENST00000269080.2	37	c.3429_splice	CCDS11680.1	.	.	.	.	.	.	.	.	.	.	G	2.068	-0.413861	0.04799	.	.	ENSG00000141338	ENST00000269080;ENST00000430352	D;D	0.83163	-1.69;-1.69	4.16	-4.43	0.03568	.	1.459220	0.04657	N	0.408188	T	0.73040	0.3536	M	0.63843	1.955	0.09310	N	1	B;B;B	0.12013	0.005;0.004;0.001	B;B;B	0.12837	0.006;0.005;0.008	T	0.53056	-0.8492	10	0.09084	T	0.74	.	1.6533	0.02776	0.4507:0.1407:0.2651:0.1435	.	1184;1184;1144	A1L3U3;C9JQE6;O94911	.;.;ABCA8_HUMAN	F	1144;1184	ENSP00000269080:L1144F;ENSP00000402814:L1184F	ENSP00000269080:L1144F	L	-	1	0	ABCA8	64392132	0.000000	0.05858	0.000000	0.03702	0.019000	0.09904	-2.614000	0.00883	-0.809000	0.04381	-0.793000	0.03317	CTT		0.353	ABCA8-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000450172.1	NM_007168	Missense_Mutation	34	8	0	0	0	1	0	34	8				
DNM1P47	100216544	broad.mit.edu	37	15	102292785	102292785	+	RNA	SNP	C	C	G	rs61084368|rs143389223	byFrequency	TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr15:102292785C>G	ENST00000561463.1	+	0	831									DNM1 pseudogene 47									p.Q125E(1)									TGCTGCTTCTCAGAGCTGCTG	0.602																																						ENST00000561463.1																			1	Substitution - Missense(1)	p.Q125E(1)	kidney(1)																																																100216544							g.chr15:102292785C>G	AJ576276		15q26.3	2013-04-25			ENSG00000259660	ENSG00000259660			35200	pseudogene	pseudogene				DNM1DN14@			Standard	NG_009149		Approved	DNM1DN14-3			OTTHUMG00000172265		15.37:g.102292785C>G														0	831	+									RNA	SNP	ENST00000561463.1	37																																																																																						0.602	DNM1P47-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000417589.1	NG_009149		6	56	0	0	0	1	0	6	56				
IGLV2-28	28812	broad.mit.edu	37	22	23006960	23006960	+	RNA	SNP	C	C	A	rs199838243	byFrequency	TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr22:23006960C>A	ENST00000385099.1	+	0	63																											GGGCTCTGCTCCTCCTCACCC	0.627																																						ENST00000385099.1																			0																																																			28812							g.chr22:23006960C>A																													22.37:g.23006960C>A														0	63	+									RNA	SNP	ENST00000385099.1	37																																																																																						0.627	D86994.2-201	NOVEL	basic	miRNA	miRNA				3	36	1	0	2.56e-06	1	2.67892e-06	3	36				
ADAMTS20	80070	broad.mit.edu	37	12	43944800	43944800	+	Missense_Mutation	SNP	C	C	A			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr12:43944800C>A	ENST00000389420.3	-	2	364	c.365G>T	c.(364-366)gGg>gTg	p.G122V	ADAMTS20_ENST00000553158.1_Missense_Mutation_p.G122V	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 20	122					extracellular matrix organization (GO:0030198)|negative regulation of apoptotic process (GO:0043066)|positive regulation of melanocyte differentiation (GO:0045636)|positive regulation of signal transduction (GO:0009967)	extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)		GBM - Glioblastoma multiforme(48;0.0473)		GTCCGAGGGCCCTGCGTCGCT	0.657																																						ENST00000389420.3																			0				breast(1)|central_nervous_system(6)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(43)|ovary(4)|pancreas(3)|prostate(5)|skin(12)|upper_aerodigestive_tract(1)|urinary_tract(1)	95						c.(364-366)gGg>gTg		ADAM metallopeptidase with thrombospondin type 1 motif, 20							23.0	26.0	25.0					12																	43944800		2203	4300	6503	SO:0001583	missense	80070					proteinaceous extracellular matrix	zinc ion binding	g.chr12:43944800C>A	AF488804	CCDS31778.2	12q12	2005-08-19	2005-08-19			ENSG00000173157		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17178	protein-coding gene	gene with protein product		611681	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 20"""			12514189, 12562771	Standard	NM_025003		Approved	GON-1	uc010skx.2	P59510		ENST00000389420.3:c.365G>T	12.37:g.43944800C>A	ENSP00000374071:p.Gly122Val					ADAMTS20_ENST00000553158.1_Missense_Mutation_p.G122V	p.G122V	NM_025003.3	NP_079279.3	P59510	ATS20_HUMAN		GBM - Glioblastoma multiforme(48;0.0473)	2	364	-	all_cancers(12;2.6e-05)|Lung SC(27;0.184)	Lung NSC(34;0.0569)|all_lung(34;0.129)	122					A6NNC9|J3QT00	Missense_Mutation	SNP	ENST00000389420.3	37	c.365G>T	CCDS31778.2	.	.	.	.	.	.	.	.	.	.	C	0.811	-0.752103	0.03041	.	.	ENSG00000173157	ENST00000389420;ENST00000553158;ENST00000389417	T;T	0.05258	3.47;3.47	3.5	-5.63	0.02474	Peptidase M12B, propeptide (1);	0.722427	0.11380	N	0.569884	T	0.04227	0.0117	L	0.46157	1.445	0.09310	N	0.999999	B	0.06786	0.001	B	0.18263	0.021	T	0.42344	-0.9457	10	0.30078	T	0.28	.	0.6894	0.00888	0.1942:0.2548:0.1725:0.3785	.	122	P59510	ATS20_HUMAN	V	122	ENSP00000374071:G122V;ENSP00000448341:G122V	ENSP00000374068:G122V	G	-	2	0	ADAMTS20	42231067	0.000000	0.05858	0.001000	0.08648	0.021000	0.10359	-0.768000	0.04715	-1.412000	0.02030	-0.340000	0.08031	GGG		0.657	ADAMTS20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403643.1	NM_025003		29	48	1	0	3.73988e-18	1	4.50893e-18	29	48				
GRM7	2917	broad.mit.edu	37	3	6903434	6903434	+	Missense_Mutation	SNP	T	T	A			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr3:6903434T>A	ENST00000357716.4	+	1	633	c.359T>A	c.(358-360)cTt>cAt	p.L120H	GRM7_ENST00000486284.1_Missense_Mutation_p.L120H|GRM7_ENST00000389336.4_Missense_Mutation_p.L120H|GRM7_ENST00000403881.1_Missense_Mutation_p.L120H|GRM7_ENST00000402647.2_Missense_Mutation_p.L120H	NM_000844.3	NP_000835.1	Q14831	GRM7_HUMAN	glutamate receptor, metabotropic 7	120					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|adult behavior (GO:0030534)|conditioned taste aversion (GO:0001661)|multicellular organismal response to stress (GO:0033555)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of cAMP biosynthetic process (GO:0030818)|negative regulation of glutamate secretion (GO:0014050)|regulation of cyclase activity (GO:0031279)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of smell (GO:0007608)|sensory perception of sound (GO:0007605)|short-term memory (GO:0007614)|synaptic transmission (GO:0007268)|transmission of nerve impulse (GO:0019226)	asymmetric synapse (GO:0032279)|axon (GO:0030424)|cell cortex (GO:0005938)|dendrite (GO:0030425)|dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)|receptor complex (GO:0043235)	adenylate cyclase inhibitor activity (GO:0010855)|calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|glutamate binding (GO:0016595)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642)|PDZ domain binding (GO:0030165)|serine binding (GO:0070905)|voltage-gated calcium channel activity (GO:0005245)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	76						GAACAGTCGCTTACTTTCGTC	0.592																																						ENST00000486284.1																			0				breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	76						c.(358-360)cTt>cAt		glutamate receptor, metabotropic 7	L-Glutamic Acid(DB00142)						70.0	66.0	67.0					3																	6903434		2203	4300	6503	SO:0001583	missense	2917				negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission	asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone	adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|PDZ domain binding|serine binding	g.chr3:6903434T>A	U92458	CCDS43042.1	3p26-p25	2014-06-12			ENSG00000196277	ENSG00000196277		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4599	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 87"""	604101				8288585, 8840028	Standard	NM_000844		Approved	GLUR7, GPRC1G, mGlu7, MGLUR7, PPP1R87	uc003bql.2	Q14831	OTTHUMG00000125549	ENST00000357716.4:c.359T>A	3.37:g.6903434T>A	ENSP00000350348:p.Leu120His					GRM7_ENST00000389336.4_Missense_Mutation_p.L120H|GRM7_ENST00000402647.2_Missense_Mutation_p.L120H|GRM7_ENST00000403881.1_Missense_Mutation_p.L120H|GRM7_ENST00000357716.4_Missense_Mutation_p.L120H	p.L120H	NM_181874.2	NP_870989.1	Q14831	GRM7_HUMAN			1	633	+			120					Q8NFS2|Q8NFS3|Q8NFS4	Missense_Mutation	SNP	ENST00000357716.4	37	c.359T>A	CCDS43042.1	.	.	.	.	.	.	.	.	.	.	T	24.7	4.559013	0.86231	.	.	ENSG00000196277	ENST00000357716;ENST00000486284;ENST00000389336;ENST00000403881;ENST00000525747;ENST00000402647;ENST00000413492	T;T;T;T;T	0.67698	-0.28;-0.28;-0.28;-0.28;-0.28	5.27	5.27	0.74061	Extracellular ligand-binding receptor (1);	0.000000	0.56097	D	0.000022	D	0.85358	0.5678	M	0.92784	3.345	0.58432	D	0.999999	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.997;0.998;0.987	D	0.88946	0.3383	10	0.87932	D	0	.	14.0227	0.64565	0.0:0.0:0.0:1.0	.	120;120;120	Q14831-5;Q14831;Q14831-2	.;GRM7_HUMAN;.	H	120	ENSP00000350348:L120H;ENSP00000417536:L120H;ENSP00000373987:L120H;ENSP00000385664:L120H;ENSP00000384585:L120H	ENSP00000350348:L120H	L	+	2	0	GRM7	6878434	1.000000	0.71417	1.000000	0.80357	0.970000	0.65996	7.865000	0.87049	1.982000	0.57802	0.460000	0.39030	CTT		0.592	GRM7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000246895.3	NM_000844		34	108	0	0	0	1	0	34	108				
FAM47C	442444	broad.mit.edu	37	X	37027442	37027442	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chrX:37027442C>T	ENST00000358047.3	+	1	1011	c.959C>T	c.(958-960)cCa>cTa	p.P320L		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	320										breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						CATCTCCGCCCAGAGCCTTCT	0.602																																						ENST00000358047.3																			0				breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						c.(958-960)cCa>cTa		family with sequence similarity 47, member C							90.0	80.0	84.0					X																	37027442		2202	4300	6502	SO:0001583	missense	442444							g.chrX:37027442C>T	AK125992	CCDS35227.1	Xp21.1	2006-07-04			ENSG00000198173	ENSG00000198173			25301	protein-coding gene	gene with protein product							Standard	NM_001013736		Approved		uc004ddl.2	Q5HY64	OTTHUMG00000024025	ENST00000358047.3:c.959C>T	X.37:g.37027442C>T	ENSP00000367913:p.Pro320Leu						p.P320L	NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN			1	1011	+			320					Q6ZU46	Missense_Mutation	SNP	ENST00000358047.3	37	c.959C>T	CCDS35227.1	.	.	.	.	.	.	.	.	.	.	c	21.4	4.144694	0.77888	.	.	ENSG00000198173	ENST00000358047	T	0.22743	1.94	0.951	0.951	0.19579	.	.	.	.	.	T	0.18173	0.0436	L	0.45581	1.43	0.35589	D	0.806922	B	0.32893	0.389	B	0.35727	0.209	T	0.15925	-1.0420	9	0.40728	T	0.16	.	7.6353	0.28264	0.0:0.9999:0.0:1.0E-4	.	320	Q5HY64	FA47C_HUMAN	L	320	ENSP00000367913:P320L	ENSP00000367913:P320L	P	+	2	0	FAM47C	36937363	0.000000	0.05858	0.009000	0.14445	0.009000	0.06853	-0.207000	0.09384	0.181000	0.19994	0.183000	0.17082	CCA		0.602	FAM47C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060508.1	NM_001013736		142	43	0	0	0	1	0	142	43				
PSMD2	5708	broad.mit.edu	37	3	184024591	184024591	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr3:184024591C>T	ENST00000310118.4	+	16	2561	c.2003C>T	c.(2002-2004)gCa>gTa	p.A668V	PSMD2_ENST00000435761.1_Missense_Mutation_p.A509V|EIF2B5_ENST00000444495.1_Intron|PSMD2_ENST00000439383.1_Missense_Mutation_p.A538V	NM_002808.3	NP_002799.3	Q13200	PSMD2_HUMAN	proteasome (prosome, macropain) 26S subunit, non-ATPase, 2	668					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 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 protein catabolic process (GO:0042176)|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)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)|proteasome regulatory particle (GO:0005838)	enzyme regulator activity (GO:0030234)			breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(5)|liver(1)|lung(12)|prostate(3)|upper_aerodigestive_tract(2)	27	all_cancers(143;1.54e-10)|Ovarian(172;0.0339)		Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		Bortezomib(DB00188)	GAGATTGGTGCAGAGATGGCA	0.458																																					Colon(24;313 636 6917 9932 15554)	ENST00000310118.4																			0				breast(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(5)|liver(1)|lung(12)|prostate(3)|upper_aerodigestive_tract(2)	27						c.(2002-2004)gCa>gTa		proteasome (prosome, macropain) 26S subunit, non-ATPase, 2	Bortezomib(DB00188)						185.0	178.0	180.0					3																	184024591		2203	4300	6503	SO:0001583	missense	5708				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|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|regulation of protein catabolic process|S phase of mitotic cell cycle|viral reproduction	proteasome regulatory particle	enzyme regulator activity|protein binding	g.chr3:184024591C>T	AK095245	CCDS3258.1, CCDS63853.1, CCDS63854.1	3q27.3	2008-05-22			ENSG00000175166	ENSG00000175166		"""Proteasome (prosome, macropain) subunits"""	9559	protein-coding gene	gene with protein product		606223				8774743	Standard	NM_002808		Approved	S2, P97, TRAP2, MGC14274, Rpn1	uc003fnn.1	Q13200	OTTHUMG00000156796	ENST00000310118.4:c.2003C>T	3.37:g.184024591C>T	ENSP00000310129:p.Ala668Val					EIF2B5_ENST00000444495.1_Intron|PSMD2_ENST00000435761.1_Missense_Mutation_p.A509V|PSMD2_ENST00000439383.1_Missense_Mutation_p.A538V	p.A668V	NM_002808.3	NP_002799.3	Q13200	PSMD2_HUMAN	Epithelial(37;1.53e-33)|OV - Ovarian serous cystadenocarcinoma(80;2.72e-22)		16	2561	+	all_cancers(143;1.54e-10)|Ovarian(172;0.0339)		668					B4DX07|B4DXY1|E7EW34|E9PCS3|Q12932|Q15321|Q53XQ4|Q96I12	Missense_Mutation	SNP	ENST00000310118.4	37	c.2003C>T	CCDS3258.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	19.66|19.66	3.869521|3.869521	0.72065|0.72065	.|.	.|.	ENSG00000175166|ENSG00000175166	ENST00000310118;ENST00000538096;ENST00000435761;ENST00000439383|ENST00000358216	T;T;T|.	0.30448|.	1.53;1.53;1.53|.	5.36|5.36	5.36|5.36	0.76844|0.76844	Armadillo-like helical (1);Armadillo-type fold (1);|.	0.158211|.	0.64402|.	D|.	0.000019|.	T|.	0.70072|.	0.3182|.	L|L	0.52759|0.52759	1.655|1.655	0.48632|0.48632	D|D	0.99968|0.99968	B;B|.	0.26635|.	0.0;0.155|.	B;B|.	0.26614|.	0.003;0.071|.	T|.	0.64097|.	-0.6487|.	10|.	0.44086|0.29301	T|T	0.13|0.29	-12.6841|-12.6841	19.2817|19.2817	0.94054|0.94054	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	509;668|.	E9PCS3;Q13200|.	.;PSMD2_HUMAN|.	V|X	668;660;509;538|341	ENSP00000310129:A668V;ENSP00000402618:A509V;ENSP00000416028:A538V|.	ENSP00000310129:A668V|ENSP00000350950:Q341X	A|Q	+|+	2|1	0|0	PSMD2|PSMD2	185507285|185507285	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	7.254000|7.254000	0.78329|0.78329	2.781000|2.781000	0.95711|0.95711	0.555000|0.555000	0.69702|0.69702	GCA|CAG		0.458	PSMD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345843.1	NM_002808		108	127	0	0	0	1	0	108	127				
GREB1	9687	broad.mit.edu	37	2	11737977	11737977	+	Silent	SNP	G	G	T	rs573782674		TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr2:11737977G>T	ENST00000381486.2	+	14	2325	c.2025G>T	c.(2023-2025)gtG>gtT	p.V675V	GREB1_ENST00000234142.5_Silent_p.V675V	NM_014668.3	NP_055483.2	Q4ZG55	GREB1_HUMAN	growth regulation by estrogen in breast cancer 1	675						integral component of membrane (GO:0016021)				breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)	30	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)		TCTCCCATGTGTGTTCCATTG	0.557																																					Ovarian(39;850 945 2785 23371 33093)	ENST00000381486.2																			0				breast(3)|central_nervous_system(2)|endometrium(2)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)	30						c.(2023-2025)gtG>gtT		growth regulation by estrogen in breast cancer 1							173.0	172.0	173.0					2																	11737977		1976	4148	6124	SO:0001819	synonymous_variant	9687					integral to membrane		g.chr2:11737977G>T		CCDS33146.1, CCDS33147.1, CCDS42655.1	2p25.1	2010-02-17	2009-09-10		ENSG00000196208	ENSG00000196208			24885	protein-coding gene	gene with protein product	"""gene regulated by estrogen in breast cancer"""	611736				11103799	Standard	NM_014668		Approved	KIAA0575	uc002rbk.1	Q4ZG55	OTTHUMG00000141276	ENST00000381486.2:c.2025G>T	2.37:g.11737977G>T						GREB1_ENST00000234142.5_Silent_p.V675V	p.V675V	NM_014668.3	NP_055483.2	Q4ZG55	GREB1_HUMAN		Epithelial(75;0.115)|OV - Ovarian serous cystadenocarcinoma(76;0.186)	14	2325	+	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		675					A6NHD0|A6NKN0|B5MDA9|O60321|Q7Z5S2|Q9H2Q6|Q9H2Q7|Q9H2Q8	Silent	SNP	ENST00000381486.2	37	c.2025G>T	CCDS42655.1																																																																																				0.557	GREB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000280490.1	NM_014668		223	353	1	0	1.24708e-86	1	1.89273e-86	223	353				
VPS13B	157680	broad.mit.edu	37	8	100568693	100568693	+	Missense_Mutation	SNP	A	A	C			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr8:100568693A>C	ENST00000358544.2	+	31	4947	c.4836A>C	c.(4834-4836)ttA>ttC	p.L1612F	VPS13B_ENST00000395996.1_3'UTR|VPS13B_ENST00000357162.2_Missense_Mutation_p.L1587F	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	1612					protein transport (GO:0015031)					NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			CCTTGAACTTAGGAATTCTTC	0.348																																					Colon(161;2205 2542 7338 31318)	ENST00000358544.2																			0				NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193						c.(4834-4836)ttA>ttC		vacuolar protein sorting 13 homolog B (yeast)							52.0	49.0	50.0					8																	100568693		2203	4300	6503	SO:0001583	missense	157680				protein transport			g.chr8:100568693A>C	AJ608772	CCDS6280.1, CCDS6281.1, CCDS6283.1, CCDS47903.1	8q22-q23	2014-09-17	2006-12-19	2005-04-08	ENSG00000132549	ENSG00000132549			2183	protein-coding gene	gene with protein product		607817	"""Cohen syndrome 1"""	CHS1, COH1		7920642, 15498460	Standard	NM_181661		Approved		uc003yiv.4	Q7Z7G8	OTTHUMG00000140383	ENST00000358544.2:c.4836A>C	8.37:g.100568693A>C	ENSP00000351346:p.Leu1612Phe					VPS13B_ENST00000395996.1_3'UTR|VPS13B_ENST00000357162.2_Missense_Mutation_p.L1587F	p.L1612F	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.00636)		31	4947	+	Breast(36;3.73e-07)		1612					C9JD30|Q709C6|Q709C7|Q7Z7G4|Q7Z7G5|Q7Z7G6|Q7Z7G7|Q8NB77|Q9NWV1|Q9Y4E7	Missense_Mutation	SNP	ENST00000358544.2	37	c.4836A>C	CCDS6280.1	.	.	.	.	.	.	.	.	.	.	A	16.33	3.092826	0.56075	.	.	ENSG00000132549	ENST00000357162;ENST00000358544	T;T	0.70516	-0.49;-0.49	5.73	2.05	0.26809	.	0.000000	0.64402	D	0.000020	T	0.77935	0.4205	M	0.68952	2.095	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.91635	0.999;0.997	T	0.73849	-0.3853	10	0.45353	T	0.12	.	6.0991	0.20037	0.5902:0.1269:0.2829:0.0	.	1587;1612	Q7Z7G8-2;Q7Z7G8	.;VP13B_HUMAN	F	1587;1612	ENSP00000349685:L1587F;ENSP00000351346:L1612F	ENSP00000349685:L1587F	L	+	3	2	VPS13B	100637869	0.998000	0.40836	1.000000	0.80357	0.987000	0.75469	0.571000	0.23669	0.427000	0.26145	-0.297000	0.09499	TTA		0.348	VPS13B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000277138.1	NM_184042		8	84	0	0	0	1	0	8	84				
ATP13A4	84239	broad.mit.edu	37	3	193160195	193160195	+	Missense_Mutation	SNP	A	A	T			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr3:193160195A>T	ENST00000342695.4	-	19	2625	c.2303T>A	c.(2302-2304)aTg>aAg	p.M768K	ATP13A4_ENST00000392443.3_Missense_Mutation_p.M749K	NM_032279.2	NP_115655.2	Q4VNC1	AT134_HUMAN	ATPase type 13A4	768						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)		ATTCCCATACATAATGTGTTT	0.428																																						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.(2302-2304)aTg>aAg		ATPase type 13A4							161.0	141.0	148.0					3																	193160195		2203	4300	6503	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.chr3:193160195A>T	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.2303T>A	3.37:g.193160195A>T	ENSP00000339182:p.Met768Lys					ATP13A4_ENST00000392443.3_Missense_Mutation_p.M749K	p.M768K	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)	19	2625	-	all_cancers(143;1.76e-08)|Ovarian(172;0.0386)		768					B7WPC7|Q6UY23|Q8N1Q9|Q9H043	Missense_Mutation	SNP	ENST00000342695.4	37	c.2303T>A	CCDS3304.2	.	.	.	.	.	.	.	.	.	.	G	0.005	-2.191795	0.00302	.	.	ENSG00000127249	ENST00000392443;ENST00000342695	D;D	0.84800	-1.61;-1.9	5.87	0.0833	0.14432	HAD-like domain (1);	1.371260	0.04407	N	0.365280	T	0.61986	0.2391	N	0.04508	-0.205	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.56135	-0.8029	10	0.06099	T	0.92	-13.5543	0.5325	0.00631	0.3463:0.2041:0.27:0.1796	.	749;768;768	B7WPN9;Q4VNC1-2;Q4VNC1	.;.;AT134_HUMAN	K	749;768	ENSP00000376238:M749K;ENSP00000339182:M768K	ENSP00000339182:M768K	M	-	2	0	ATP13A4	194642889	0.000000	0.05858	0.000000	0.03702	0.162000	0.22319	-1.046000	0.03525	-0.058000	0.13177	-0.735000	0.03563	ATG		0.428	ATP13A4-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157244.4	NM_032279		21	51	0	0	0	1	0	21	51				
PML	5371	broad.mit.edu	37	15	74325808	74325808	+	Intron	SNP	G	G	A			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr15:74325808G>A	ENST00000268058.3	+	6	1753				PML_ENST00000569477.1_Intron|PML_ENST00000435786.2_Intron|PML_ENST00000359928.4_Intron|PML_ENST00000395135.3_Intron|PML_ENST00000268059.6_Intron|PML_ENST00000436891.3_Intron|PML_ENST00000564428.1_Intron|PML_ENST00000565898.1_Intron|PML_ENST00000567543.1_Intron|PML_ENST00000569965.1_Intron|PML_ENST00000395132.2_Intron|PML_ENST00000354026.6_Intron|PML_ENST00000563500.1_Silent_p.A522A	NM_033238.2	NP_150241.2	P29590	PML_HUMAN	promyelocytic leukemia						activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|branching involved in mammary gland duct morphogenesis (GO:0060444)|cell cycle arrest (GO:0007050)|cell fate commitment (GO:0045165)|cellular response to interleukin-4 (GO:0071353)|cellular senescence (GO:0090398)|circadian regulation of gene expression (GO:0032922)|common-partner SMAD protein phosphorylation (GO:0007182)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|endoplasmic reticulum calcium ion homeostasis (GO:0032469)|entrainment of circadian clock by photoperiod (GO:0043153)|extrinsic apoptotic signaling pathway (GO:0097191)|innate immune response (GO:0045087)|interferon-gamma-mediated signaling pathway (GO:0060333)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|maintenance of protein location in nucleus (GO:0051457)|myeloid cell differentiation (GO:0030099)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000059)|negative regulation of telomerase activity (GO:0051974)|negative regulation of telomere maintenance via telomerase (GO:0032211)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of translation in response to oxidative stress (GO:0032938)|negative regulation of viral release from host cell (GO:1902187)|PML body organization (GO:0030578)|positive regulation of apoptotic process involved in mammary gland involution (GO:0060058)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|positive regulation of histone deacetylation (GO:0031065)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein complex assembly (GO:0006461)|protein stabilization (GO:0050821)|protein targeting (GO:0006605)|regulation of calcium ion transport into cytosol (GO:0010522)|regulation of circadian rhythm (GO:0042752)|regulation of double-strand break repair (GO:2000779)|regulation of MHC class I biosynthetic process (GO:0045343)|regulation of protein phosphorylation (GO:0001932)|regulation of transcription, DNA-templated (GO:0006355)|response to cytokine (GO:0034097)|response to gamma radiation (GO:0010332)|response to hypoxia (GO:0001666)|response to UV (GO:0009411)|retinoic acid receptor signaling pathway (GO:0048384)|SMAD protein import into nucleus (GO:0007184)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|extrinsic component of endoplasmic reticulum membrane (GO:0042406)|nuclear matrix (GO:0016363)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)	cobalt ion binding (GO:0050897)|DNA binding (GO:0003677)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|SUMO binding (GO:0032183)|transcription coactivator activity (GO:0003713)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	31						GGGTCTGGGCGGTGCCCCTCT	0.607			T	"""RARA, PAX5"""	"""APL, ALL"""																																	ENST00000563500.1				Dom	yes		15	15q22	5371	T	promyelocytic leukemia			L	"""RARA, PAX5"""		"""APL, ALL"""		0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(8)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	31						c.(1564-1566)gcG>gcA		promyelocytic leukemia							8.0	10.0	9.0					15																	74325808		1318	2300	3618	SO:0001627	intron_variant	5371				cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction resulting in induction of apoptosis|endoplasmic reticulum calcium ion homeostasis|induction of apoptosis|interferon-gamma-mediated signaling pathway|interspecies interaction between organisms|maintenance of protein location in nucleus|negative regulation of angiogenesis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of mitotic cell cycle|negative regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|negative regulation of telomerase activity|negative regulation of telomere maintenance via telomerase|negative regulation of transcription, DNA-dependent|negative regulation of translation in response to oxidative stress|PML body organization|positive regulation of defense response to virus by host|positive regulation of histone deacetylation|protein complex assembly|protein stabilization|protein targeting|regulation of calcium ion transport into cytosol|regulation of protein phosphorylation|response to hypoxia|response to virus|transcription, DNA-dependent	cytoplasm|cytosol|early endosome membrane|extrinsic to endoplasmic reticulum membrane|insoluble fraction|nuclear matrix|nuclear membrane|nucleolus|nucleus|PML body	cobalt ion binding|DNA binding|protein binding|protein heterodimerization activity|protein homodimerization activity|SUMO binding|transcription coactivator activity|ubiquitin protein ligase binding|zinc ion binding	g.chr15:74325808G>A	AB208950	CCDS10255.1, CCDS10256.1, CCDS10257.1, CCDS10258.1, CCDS45297.1, CCDS45298.1, CCDS45299.1, CCDS45300.1, CCDS58386.1	15q24.1	2011-04-21			ENSG00000140464	ENSG00000140464		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	9113	protein-coding gene	gene with protein product		102578					Standard	NM_033244		Approved	MYL, TRIM19, RNF71	uc002awv.3	P29590	OTTHUMG00000137607	ENST00000268058.3:c.1657+53G>A	15.37:g.74325808G>A						PML_ENST00000569477.1_Intron|PML_ENST00000567543.1_Intron|PML_ENST00000436891.3_Intron|PML_ENST00000435786.2_Intron|PML_ENST00000565898.1_Intron|PML_ENST00000395132.2_Intron|PML_ENST00000395135.3_Intron|PML_ENST00000564428.1_Intron|PML_ENST00000268059.6_Intron|PML_ENST00000268058.3_Intron|PML_ENST00000359928.4_Intron|PML_ENST00000569965.1_Intron|PML_ENST00000354026.6_Intron	p.A522A			P29590	PML_HUMAN			5	1576	+			0					E9PBR7|P29591|P29592|P29593|Q00755|Q15959|Q59FP9|Q8WUA0|Q96S41|Q9BPW2|Q9BWP7|Q9BZX6|Q9BZX7|Q9BZX8|Q9BZX9|Q9BZY0|Q9BZY2|Q9BZY3	Silent	SNP	ENST00000268058.3	37	c.1566G>A	CCDS10255.1																																																																																				0.607	PML-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269021.3	NM_002675		31	22	0	0	0	1	0	31	22				
HYDIN	54768	broad.mit.edu	37	16	70841641	70841641	+	Silent	SNP	G	G	T	rs577654275	byFrequency	TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr16:70841641G>T	ENST00000393567.2	-	86	15358	c.15208C>A	c.(15208-15210)Cgg>Agg	p.R5070R		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	5070					cilium assembly (GO:0042384)|cilium movement (GO:0003341)|epithelial cell development (GO:0002064)|trachea development (GO:0060438)|ventricular system development (GO:0021591)	cell projection (GO:0042995)				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				TTCTTGGGCCGCACAGACTCT	0.517																																						ENST00000393567.2																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43						c.(15208-15210)Cgg>Agg		HYDIN, axonemal central pair apparatus protein							159.0	164.0	162.0					16																	70841641		2057	4196	6253	SO:0001819	synonymous_variant	54768							g.chr16:70841641G>T	AK074472	CCDS10897.1, CCDS56004.1, CCDS56005.1, CCDS59269.1	16q22.2	2014-02-05	2012-01-06		ENSG00000157423	ENSG00000157423		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	19368	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 31"""	610812	"""hydrocephalus inducing"", ""hydrocephalus inducing homolog (mouse)"""			12719380, 23022101	Standard	NM_001198542		Approved	DKFZp434D0513, KIAA1864, PPP1R31, CILD5	uc031qwy.1	Q4G0P3	OTTHUMG00000137584	ENST00000393567.2:c.15208C>A	16.37:g.70841641G>T							p.R5070R	NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN			86	15358	-		Ovarian(137;0.0654)	5070					A6NC70|A6NLZ0|B4DQY4|B4DRN4|F5H6V3|Q8N3H8|Q8N3P6|Q8TC08|Q96JG3|Q96SS4|Q9H5U3|Q9H9B8|Q9NTI0|Q9UBE5	Silent	SNP	ENST00000393567.2	37	c.15208C>A	CCDS59269.1																																																																																				0.517	HYDIN-001	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000398624.3			39	144	1	0	1.04594e-18	1	1.27539e-18	39	144				
PCDH17	27253	broad.mit.edu	37	13	58206752	58206752	+	Silent	SNP	C	C	G	rs566344762		TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr13:58206752C>G	ENST00000377918.3	+	1	98	c.72C>G	c.(70-72)tcC>tcG	p.S24S		NM_001040429.2	NP_001035519.1	O14917	PCD17_HUMAN	protocadherin 17	24	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		TCAACTACTCCGTGCCGGAGG	0.637																																					Melanoma(72;952 1291 1619 12849 33676)	ENST00000377918.3																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120						c.(70-72)tcC>tcG		protocadherin 17							42.0	40.0	41.0					13																	58206752		2203	4300	6503	SO:0001819	synonymous_variant	27253				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding	g.chr13:58206752C>G	AF029343	CCDS31986.1	13q21.1	2010-01-26			ENSG00000118946	ENSG00000118946		"""Cadherins / Protocadherins : Non-clustered"""	14267	protein-coding gene	gene with protein product		611760				10835267	Standard	NM_001040429		Approved	PCDH68, PCH68	uc001vhq.1	O14917	OTTHUMG00000016992	ENST00000377918.3:c.72C>G	13.37:g.58206752C>G							p.S24S	NM_001040429.2	NP_001035519.1	O14917	PCD17_HUMAN		GBM - Glioblastoma multiforme(99;1.06e-05)	1	98	+		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)	24			Cadherin 1.		A8K1R5|Q5VVW9|Q5VVX0	Silent	SNP	ENST00000377918.3	37	c.72C>G	CCDS31986.1																																																																																				0.637	PCDH17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045139.1	NM_001040429		36	49	0	0	0	1	0	36	49				
PCDHB8	56128	broad.mit.edu	37	5	140559006	140559006	+	Missense_Mutation	SNP	A	A	C			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr5:140559006A>C	ENST00000239444.2	+	1	1636	c.1391A>C	c.(1390-1392)aAc>aCc	p.N464T	PCDHB16_ENST00000361016.2_5'Flank	NM_019120.3	NP_061993.2	Q9UN66	PCDB8_HUMAN	protocadherin beta 8	464	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GTCCGCGAGAACAACAGCCCC	0.627																																						ENST00000239444.2																			0				NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	83						c.(1390-1392)aAc>aCc									97.0	140.0	126.0					5																	140559006		2202	4278	6480	SO:0001583	missense	56128				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140559006A>C	AF152501	CCDS4250.1	5q31	2010-01-26			ENSG00000120322	ENSG00000120322		"""Cadherins / Protocadherins : Clustered"""	8693	other	protocadherin		606334				10380929	Standard	NM_019120		Approved	PCDH-BETA8, PCDH3I	uc011dai.2	Q9UN66	OTTHUMG00000129621	ENST00000239444.2:c.1391A>C	5.37:g.140559006A>C	ENSP00000239444:p.Asn464Thr						p.N464T	NM_019120.3	NP_061993.2	Q9UN66	PCDB8_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1636	+			464			Cadherin 5.		B9EGV1	Missense_Mutation	SNP	ENST00000239444.2	37	c.1391A>C	CCDS4250.1	.	.	.	.	.	.	.	.	.	.	A	16.81	3.225848	0.58668	.	.	ENSG00000120322	ENST00000239444	T	0.01767	4.65	4.26	4.26	0.50523	Cadherin (3);Cadherin-like (1);	.	.	.	.	T	0.15912	0.0383	H	0.95745	3.715	0.34173	D	0.669972	D	0.89917	1.0	D	0.87578	0.998	T	0.43734	-0.9373	9	0.87932	D	0	.	13.0715	0.59064	1.0:0.0:0.0:0.0	.	464	Q9UN66	PCDB8_HUMAN	T	464	ENSP00000239444:N464T	ENSP00000239444:N464T	N	+	2	0	PCDHB8	140539190	1.000000	0.71417	1.000000	0.80357	0.774000	0.43823	6.057000	0.71119	1.564000	0.49628	0.254000	0.18369	AAC		0.627	PCDHB8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251816.2	NM_019120		181	1250	0	0	0	1	0	181	1250				
MFAP1	4236	broad.mit.edu	37	15	44097469	44097469	+	Missense_Mutation	SNP	C	C	A			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr15:44097469C>A	ENST00000267812.3	-	9	1375	c.1143G>T	c.(1141-1143)aaG>aaT	p.K381N		NM_005926.2	NP_005917.2	P55081	MFAP1_HUMAN	microfibrillar-associated protein 1	381					extracellular matrix organization (GO:0030198)	extracellular region (GO:0005576)|microfibril (GO:0001527)	poly(A) RNA binding (GO:0044822)			breast(2)|endometrium(1)|kidney(1)|lung(6)|skin(2)|upper_aerodigestive_tract(3)	15		all_cancers(109;7.57e-15)|all_epithelial(112;3.51e-12)|Lung NSC(122;4.72e-08)|all_lung(180;4.9e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;4.33e-07)		Gtccaaagttcttgacctgag	0.468																																						ENST00000267812.3																			0				breast(2)|endometrium(1)|kidney(1)|lung(6)|skin(2)|upper_aerodigestive_tract(3)	15						c.(1141-1143)aaG>aaT		microfibrillar-associated protein 1							111.0	99.0	103.0					15																	44097469		2198	4298	6496	SO:0001583	missense	4236					microfibril		g.chr15:44097469C>A		CCDS10105.1	15q15-q21	2014-05-20			ENSG00000140259	ENSG00000140259			7032	protein-coding gene	gene with protein product		600215				7835894	Standard	NM_005926		Approved		uc001zth.1	P55081	OTTHUMG00000060145	ENST00000267812.3:c.1143G>T	15.37:g.44097469C>A	ENSP00000267812:p.Lys381Asn						p.K381N	NM_005926.2	NP_005917.2	P55081	MFAP1_HUMAN		GBM - Glioblastoma multiforme(94;4.33e-07)	9	1375	-		all_cancers(109;7.57e-15)|all_epithelial(112;3.51e-12)|Lung NSC(122;4.72e-08)|all_lung(180;4.9e-07)|Melanoma(134;0.027)|Colorectal(260;0.215)	381					Q86TG6	Missense_Mutation	SNP	ENST00000267812.3	37	c.1143G>T	CCDS10105.1	.	.	.	.	.	.	.	.	.	.	C	19.27	3.795245	0.70452	.	.	ENSG00000140259	ENST00000267812	.	.	.	4.96	4.05	0.47172	.	0.000000	0.85682	D	0.000000	D	0.85217	0.5646	M	0.94021	3.485	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.88716	0.3226	9	0.87932	D	0	-20.8905	13.0373	0.58879	0.0:0.9218:0.0:0.0782	.	381	P55081	MFAP1_HUMAN	N	381	.	ENSP00000267812:K381N	K	-	3	2	MFAP1	41884761	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	1.044000	0.30329	1.335000	0.45486	0.555000	0.69702	AAG		0.468	MFAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133491.2	NM_005926		37	115	1	0	6.70999e-13	1	7.6177e-13	37	115				
DAP3	7818	broad.mit.edu	37	1	155695220	155695220	+	Silent	SNP	A	A	G			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr1:155695220A>G	ENST00000368336.5	+	5	442	c.318A>G	c.(316-318)ctA>ctG	p.L106L	MSTO1_ENST00000538143.1_Intron|DAP3_ENST00000421487.2_Silent_p.L72L|MSTO1_ENST00000452804.2_Intron|DAP3_ENST00000343043.3_Silent_p.L106L|DAP3_ENST00000471642.2_Silent_p.L65L|DAP3_ENST00000535183.1_Silent_p.L65L|DAP3_ENST00000496863.1_3'UTR	NM_001199849.1|NM_004632.3	NP_001186778.1|NP_004623.1	P51398	RT29_HUMAN	death associated protein 3	106					apoptotic mitochondrial changes (GO:0008637)|apoptotic signaling pathway (GO:0097190)	mitochondrial ribosome (GO:0005761)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|small ribosomal subunit (GO:0015935)	poly(A) RNA binding (GO:0044822)			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	24	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)					AACCAGCCCTAGAACTTCTGC	0.468																																						ENST00000368336.5																			0				breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(12)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	24						c.(316-318)ctA>ctG		death associated protein 3							224.0	207.0	213.0					1																	155695220		2203	4300	6503	SO:0001819	synonymous_variant	7818				induction of apoptosis by extracellular signals	mitochondrial ribosome|nucleolus|small ribosomal subunit	protein binding	g.chr1:155695220A>G	X83544	CCDS1120.1, CCDS55646.1, CCDS55647.1	1q22	2012-11-14			ENSG00000132676	ENSG00000132676		"""Mitochondrial ribosomal proteins / small subunits"""	2673	protein-coding gene	gene with protein product	"""mitochondrial 28S ribosomal protein S29"""	602074				7499268, 9284927	Standard	NM_004632		Approved	MRPS29, DAP-3, MRP-S29, bMRP-10, MGC126058, MGC126059, DKFZp686G12159	uc001flr.3	P51398	OTTHUMG00000035439	ENST00000368336.5:c.318A>G	1.37:g.155695220A>G						DAP3_ENST00000343043.3_Silent_p.L106L|DAP3_ENST00000421487.2_Silent_p.L72L|MSTO1_ENST00000452804.2_Intron|DAP3_ENST00000471214.1_3'UTR|DAP3_ENST00000535183.1_Silent_p.L65L|MSTO1_ENST00000538143.1_Intron	p.L106L	NM_001199849.1|NM_004632.3	NP_001186778.1|NP_004623.1	P51398	RT29_HUMAN			5	442	+	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)		106					B4DP59|B4DY62|E7EM60|Q13044|Q68CT7|Q96Q20	Silent	SNP	ENST00000368336.5	37	c.318A>G	CCDS1120.1																																																																																				0.468	DAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086042.1	NM_004632		127	168	0	0	0	1	0	127	168				
ADARB2	105	broad.mit.edu	37	10	1405856	1405856	+	Silent	SNP	C	C	A			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr10:1405856C>A	ENST00000381312.1	-	3	769	c.444G>T	c.(442-444)acG>acT	p.T148T	RP11-398B16.2_ENST00000432987.1_RNA	NM_018702.3	NP_061172.1	Q9NS39	RED2_HUMAN	adenosine deaminase, RNA-specific, B2 (non-functional)	148	DRBM 1. {ECO:0000255|PROSITE- ProRule:PRU00266}.				mRNA processing (GO:0006397)	nucleus (GO:0005634)	adenosine deaminase activity (GO:0004000)|double-stranded RNA binding (GO:0003725)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|single-stranded RNA binding (GO:0003727)	p.T148T(1)		breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(17)|prostate(2)|skin(1)|urinary_tract(1)	41		all_epithelial(10;0.059)|Colorectal(49;0.0815)		all cancers(11;0.0224)|GBM - Glioblastoma multiforme(2;0.0414)|Epithelial(11;0.165)		GCACCGGGCCCGTCTGCGACA	0.677																																						ENST00000381312.1																			1	Substitution - coding silent(1)	p.T148T(1)	lung(1)	breast(2)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(7)|lung(17)|prostate(2)|skin(1)|urinary_tract(1)	41						c.(442-444)acG>acT		adenosine deaminase, RNA-specific, B2 (non-functional)							31.0	28.0	29.0					10																	1405856		2203	4299	6502	SO:0001819	synonymous_variant	105				mRNA processing	mitochondrion|nucleus	adenosine deaminase activity|double-stranded RNA binding|metal ion binding|single-stranded RNA binding	g.chr10:1405856C>A	AF034837	CCDS7058.1	10p15.3	2013-05-20	2013-05-20		ENSG00000185736	ENSG00000185736	3.5.-.-		227	protein-coding gene	gene with protein product	"""RED2 homolog (rat)"""	602065	"""adenosine deaminase, RNA-specific, B2 (RED2 homolog rat)"", ""adenosine deaminase, RNA-specific, B2"""			9272162, 10836796	Standard	NM_018702		Approved	RED2, hRED2, ADAR3	uc009xhq.3	Q9NS39	OTTHUMG00000017543	ENST00000381312.1:c.444G>T	10.37:g.1405856C>A							p.T148T	NM_018702.3	NP_061172.1	Q9NS39	RED2_HUMAN		all cancers(11;0.0224)|GBM - Glioblastoma multiforme(2;0.0414)|Epithelial(11;0.165)	3	769	-		all_epithelial(10;0.059)|Colorectal(49;0.0815)	148			DRBM 1.		B2RPJ5|Q5VUT6|Q5VW42	Silent	SNP	ENST00000381312.1	37	c.444G>T	CCDS7058.1																																																																																				0.677	ADARB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046426.1	NM_018702		22	26	1	0	7.41877e-09	1	7.91829e-09	22	26				
CDH6	1004	broad.mit.edu	37	5	31323308	31323308	+	Missense_Mutation	SNP	G	G	T			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr5:31323308G>T	ENST00000265071.2	+	12	2531	c.2266G>T	c.(2266-2268)Gtg>Ttg	p.V756L		NM_004932.3	NP_004923.1	P55285	CADH6_HUMAN	cadherin 6, type 2, K-cadherin (fetal kidney)	756					adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						GCTGGAGTCAGTGACCACGGA	0.532																																						ENST00000265071.2																			0				NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						c.(2266-2268)Gtg>Ttg		cadherin 6, type 2, K-cadherin (fetal kidney)							62.0	56.0	58.0					5																	31323308		2203	4300	6503	SO:0001583	missense	1004				adherens junction organization|cell junction assembly|homophilic cell adhesion	cytoplasm|integral to membrane|nucleus|plasma membrane	calcium ion binding	g.chr5:31323308G>T	D31784	CCDS3894.1	5p13.3	2010-01-26			ENSG00000113361	ENSG00000113361		"""Cadherins / Major cadherins"""	1765	protein-coding gene	gene with protein product	"""K-Cadherin"""	603007				7743525, 10191097	Standard	NM_004932		Approved		uc003jhe.2	P55285	OTTHUMG00000090673	ENST00000265071.2:c.2266G>T	5.37:g.31323308G>T	ENSP00000265071:p.Val756Leu						p.V756L	NM_004932.3	NP_004923.1	P55285	CADH6_HUMAN			12	2531	+			756					A8K5H5|Q9BWS0	Missense_Mutation	SNP	ENST00000265071.2	37	c.2266G>T	CCDS3894.1	.	.	.	.	.	.	.	.	.	.	G	6.612	0.481401	0.12581	.	.	ENSG00000113361	ENST00000265071	T	0.75704	-0.96	5.66	4.8	0.61643	Cadherin, cytoplasmic domain (1);	0.616433	0.17347	N	0.177530	T	0.48677	0.1513	N	0.02247	-0.625	0.09310	N	0.999999	B	0.02656	0.0	B	0.04013	0.001	T	0.11743	-1.0575	10	0.08599	T	0.76	.	15.083	0.72130	0.0682:0.0:0.9318:0.0	.	756	P55285	CADH6_HUMAN	L	756	ENSP00000265071:V756L	ENSP00000265071:V756L	V	+	1	0	CDH6	31359065	1.000000	0.71417	0.209000	0.23619	0.810000	0.45777	4.753000	0.62183	1.533000	0.49186	0.655000	0.94253	GTG		0.532	CDH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207355.2	NM_004932		58	107	1	0	7.36392e-32	1	9.75777e-32	58	107				
PRRG1	5638	broad.mit.edu	37	X	37265460	37265460	+	Splice_Site	SNP	A	A	C			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chrX:37265460A>C	ENST00000542554.1	+	3	231		c.e3-1		PRRG1_ENST00000463135.1_Splice_Site|PRRG1_ENST00000491253.1_Splice_Site|PRRG1_ENST00000449135.2_Splice_Site|TM4SF2_ENST00000465127.1_Splice_Site|PRRG1_ENST00000378628.4_Splice_Site|PRRG1_ENST00000543642.1_Splice_Site	NM_001173489.1	NP_001166960.1	O14668	TMG1_HUMAN	proline rich Gla (G-carboxyglutamic acid) 1							extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	15						TGTTTTGTACAGGGAATCATC	0.438																																						ENST00000542554.1																			0				breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	15						c.e3-1		proline rich Gla (G-carboxyglutamic acid) 1							120.0	99.0	106.0					X																	37265460		2202	4300	6502	SO:0001630	splice_region_variant	5638					extracellular region|integral to plasma membrane	calcium ion binding	g.chrX:37265460A>C	AF009242	CCDS14239.1, CCDS55397.1	Xp21.1	2010-08-13	2004-05-27		ENSG00000130962	ENSG00000130962			9469	protein-coding gene	gene with protein product		604428	"""proline-rich Gla (G-carboxyglutamic acid) polypeptide 1"""			9256434	Standard	NM_000950		Approved	PRGP1	uc004ddo.3	O14668	OTTHUMG00000021360	ENST00000542554.1:c.-41-1A>C	X.37:g.37265460A>C						PRRG1_ENST00000449135.2_Splice_Site|PRRG1_ENST00000378628.4_Splice_Site|TM4SF2_ENST00000465127.1_Splice_Site|PRRG1_ENST00000491253.1_Splice_Site|PRRG1_ENST00000463135.1_Splice_Site|PRRG1_ENST00000543642.1_Splice_Site		NM_001173489.1	NP_001166960.1	O14668	TMG1_HUMAN			3	231	+								B2R7A3|C9JXL7|D3DWA9|Q5JT66	Splice_Site	SNP	ENST00000542554.1	37		CCDS14239.1																																																																																				0.438	PRRG1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056228.2	NM_000950	Intron	62	19	0	0	0	1	0	62	19				
DPP4	1803	broad.mit.edu	37	2	162894823	162894823	+	Missense_Mutation	SNP	C	C	A			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr2:162894823C>A	ENST00000360534.3	-	8	1162	c.602G>T	c.(601-603)tGg>tTg	p.W201L		NM_001935.3	NP_001926.2	P27487	DPP4_HUMAN	dipeptidyl-peptidase 4	201					cell adhesion (GO:0007155)|endothelial cell migration (GO:0043542)|negative regulation of extracellular matrix disassembly (GO:0010716)|positive regulation of cell proliferation (GO:0008284)|regulation of cell-cell adhesion mediated by integrin (GO:0033632)|response to hypoxia (GO:0001666)|T cell activation (GO:0042110)|T cell costimulation (GO:0031295)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|endocytic vesicle (GO:0030139)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intercellular canaliculus (GO:0046581)|invadopodium membrane (GO:0071438)|lamellipodium (GO:0030027)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|plasma membrane (GO:0005886)	dipeptidyl-peptidase activity (GO:0008239)|identical protein binding (GO:0042802)|protease binding (GO:0002020)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	48					Alogliptin(DB06203)|Atorvastatin(DB01076)|Linagliptin(DB08882)|Liraglutide(DB06655)|Saxagliptin(DB06335)|Sitagliptin(DB01261)|Vildagliptin(DB04876)	TTCATAAACCCAGTCAGTTAT	0.274																																						ENST00000360534.3																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	48						c.(601-603)tGg>tTg		dipeptidyl-peptidase 4	Sitagliptin(DB01261)						56.0	57.0	56.0					2																	162894823		2200	4279	6479	SO:0001583	missense	1803				cell adhesion|endothelial cell migration|negative regulation of extracellular matrix disassembly|positive regulation of cell proliferation|proteolysis|regulation of cell-cell adhesion mediated by integrin|response to hypoxia|T cell activation|T cell costimulation	apical plasma membrane|cell surface|endocytic vesicle|extracellular region|integral to membrane|invadopodium membrane|lamellipodium membrane|membrane raft	aminopeptidase activity|dipeptidyl-peptidase activity|protease binding|protein homodimerization activity|receptor activity|receptor binding|serine-type endopeptidase activity	g.chr2:162894823C>A	M74777	CCDS2216.1	2q24.2	2013-09-19	2008-08-01		ENSG00000197635	ENSG00000197635	3.4.14.5	"""CD molecules"""	3009	protein-coding gene	gene with protein product		102720	"""dipeptidylpeptidase IV (CD26, adenosine deaminase complexing protein 2)"", ""adenosine deaminase complexing protein 2"""	CD26, ADCP2		8101391	Standard	NM_001935		Approved	DPPIV	uc002ubz.3	P27487	OTTHUMG00000132056	ENST00000360534.3:c.602G>T	2.37:g.162894823C>A	ENSP00000353731:p.Trp201Leu						p.W201L	NM_001935.3	NP_001926.2	P27487	DPP4_HUMAN			8	1162	-			201					Q53TN1	Missense_Mutation	SNP	ENST00000360534.3	37	c.602G>T	CCDS2216.1	.	.	.	.	.	.	.	.	.	.	C	29.9	5.048522	0.93740	.	.	ENSG00000197635	ENST00000360534	T	0.55052	0.54	6.03	6.03	0.97812	Peptidase S9B, dipeptidylpeptidase IV N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.81978	0.4937	H	0.94964	3.605	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.85683	0.1302	10	0.87932	D	0	-19.4221	20.5753	0.99366	0.0:1.0:0.0:0.0	.	201	P27487	DPP4_HUMAN	L	201	ENSP00000353731:W201L	ENSP00000353731:W201L	W	-	2	0	DPP4	162603069	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.474000	0.73578	2.868000	0.98415	0.557000	0.71058	TGG		0.274	DPP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255079.2			9	52	1	0	1.33987e-11	1	1.478e-11	9	52				
OR5M10	390167	broad.mit.edu	37	11	56344372	56344372	+	Missense_Mutation	SNP	C	C	A			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr11:56344372C>A	ENST00000526812.2	-	1	891	c.826G>T	c.(826-828)Gtc>Ttc	p.V276F		NM_001004741.1	NP_001004741.1	Q6IEU7	OR5MA_HUMAN	olfactory receptor, family 5, subfamily M, member 10	276						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(15)|upper_aerodigestive_tract(2)|urinary_tract(2)	25						GTATAAAAGACTGCAATTATT	0.408																																						ENST00000526812.2																			0				central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(15)|upper_aerodigestive_tract(2)|urinary_tract(2)	25						c.(826-828)Gtc>Ttc		olfactory receptor, family 5, subfamily M, member 10							201.0	196.0	197.0					11																	56344372		1831	4087	5918	SO:0001583	missense	390167				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:56344372C>A	BK004515	CCDS53630.1	11q11	2012-08-09				ENSG00000254834		"""GPCR / Class A : Olfactory receptors"""	15290	protein-coding gene	gene with protein product							Standard	NM_001004741		Approved		uc001niz.1	Q6IEU7		ENST00000526812.2:c.826G>T	11.37:g.56344372C>A	ENSP00000436004:p.Val276Phe						p.V276F	NM_001004741.1	NP_001004741.1	Q6IEU7	OR5MA_HUMAN			1	891	-			276					B9EIL9	Missense_Mutation	SNP	ENST00000526812.2	37	c.826G>T	CCDS53630.1	.	.	.	.	.	.	.	.	.	.	C	12.71	2.018264	0.35606	.	.	ENSG00000254834	ENST00000526812	T	0.00269	8.37	4.2	4.2	0.49525	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00580	0.0019	M	0.87038	2.855	0.09310	N	1	D	0.76494	0.999	D	0.74348	0.983	T	0.45352	-0.9267	9	0.87932	D	0	.	7.6258	0.28212	0.1833:0.6391:0.1777:0.0	.	276	Q6IEU7	OR5MA_HUMAN	F	276	ENSP00000436004:V276F	ENSP00000436004:V276F	V	-	1	0	OR5M10	56100948	0.000000	0.05858	0.080000	0.20451	0.518000	0.34316	-0.267000	0.08619	2.316000	0.78162	0.632000	0.83419	GTC		0.408	OR5M10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391609.1	NM_001004741		76	281	1	0	1.38705e-31	1	1.83228e-31	76	281				
TMPO	7112	broad.mit.edu	37	12	98927584	98927584	+	Intron	SNP	G	G	T			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr12:98927584G>T	ENST00000556029.1	+	3	921				TMPO_ENST00000266732.4_Missense_Mutation_p.A517S|TMPO_ENST00000393053.2_Intron|TMPO_ENST00000261210.5_Intron|TMPO_ENST00000343315.5_Intron	NM_001032283.2	NP_001027454.1	P42167	LAP2B_HUMAN	thymopoietin							cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	DNA binding (GO:0003677)|lamin binding (GO:0005521)			breast(2)|endometrium(1)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						GCCTTCACTGGCATGCAAATA	0.393																																						ENST00000266732.4																			0				breast(2)|endometrium(1)|large_intestine(4)|lung(5)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						c.(1549-1551)Gca>Tca		thymopoietin							49.0	52.0	51.0					12																	98927584		2203	4300	6503	SO:0001627	intron_variant	7112					integral to membrane|nuclear inner membrane	DNA binding|lamin binding	g.chr12:98927584G>T		CCDS9064.1, CCDS31879.1, CCDS31880.1	12q22	2014-09-17			ENSG00000120802	ENSG00000120802			11875	protein-coding gene	gene with protein product	"""LEM domain containing 4"""	188380				7517549	Standard	NM_003276		Approved	TP, LAP2, LEMD4	uc001tfh.2	P42166	OTTHUMG00000170210	ENST00000556029.1:c.565+1968G>T	12.37:g.98927584G>T						TMPO_ENST00000343315.5_Intron|TMPO_ENST00000556029.1_Intron|TMPO_ENST00000393053.2_Intron|TMPO_ENST00000261210.5_Intron	p.A517S	NM_003276.2	NP_003267.1	P42167	LAP2B_HUMAN			4	1787	+			0					A2T926|Q14861	Missense_Mutation	SNP	ENST00000556029.1	37	c.1549G>T	CCDS31879.1	.	.	.	.	.	.	.	.	.	.	G	15.88	2.963273	0.53507	.	.	ENSG00000120802	ENST00000266732	T	0.61510	0.1	5.65	4.71	0.59529	.	0.380247	0.31312	N	0.007863	T	0.47322	0.1439	N	0.24115	0.695	0.80722	D	1	B	0.24092	0.097	B	0.34590	0.186	T	0.48456	-0.9034	10	0.59425	D	0.04	-12.4819	11.3899	0.49809	0.0:0.0:0.8198:0.1802	.	517	P42166	LAP2A_HUMAN	S	517	ENSP00000266732:A517S	ENSP00000266732:A517S	A	+	1	0	TMPO	97451715	1.000000	0.71417	1.000000	0.80357	0.748000	0.42578	1.982000	0.40638	2.827000	0.97445	0.650000	0.86243	GCA		0.393	TMPO-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407973.2	NM_003276		71	82	1	0	1.02487e-32	1	1.37506e-32	71	82				
RPAP2	79871	broad.mit.edu	37	1	92789439	92789439	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr1:92789439G>A	ENST00000610020.1	+	8	1071	c.962G>A	c.(961-963)aGg>aAg	p.R321K	RPAP2_ENST00000484158.1_3'UTR	NM_024813.2	NP_079089.2	Q8IXW5	RPAP2_HUMAN	RNA polymerase II associated protein 2	321					dephosphorylation of RNA polymerase II C-terminal domain (GO:0070940)|snRNA transcription (GO:0009301)	cytoplasm (GO:0005737)|DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|nucleolus (GO:0005730)|nucleus (GO:0005634)	CTD phosphatase activity (GO:0008420)|metal ion binding (GO:0046872)			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	22		all_lung(203;0.0565)|Lung NSC(277;0.152)|Glioma(108;0.222)		all cancers(265;0.00647)|GBM - Glioblastoma multiforme(16;0.0234)|Epithelial(280;0.115)		GAATACAGTAGGTCAGAAATA	0.348																																						ENST00000370343.3																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	22						c.(961-963)aGg>aAg		RNA polymerase II associated protein 2							59.0	66.0	64.0					1																	92789439		2202	4299	6501	SO:0001583	missense	79871					integral to membrane|nucleus	metal ion binding|phosphoprotein phosphatase activity	g.chr1:92789439G>A	AK023212	CCDS740.1	1p22.1	2014-01-28	2007-07-26	2007-07-26	ENSG00000122484	ENSG00000122484			25791	protein-coding gene	gene with protein product		611476	"""chromosome 1 open reading frame 82"""	C1orf82		17643375	Standard	NM_024813		Approved	FLJ13150	uc001dot.2	Q8IXW5	OTTHUMG00000010288	ENST00000610020.1:c.962G>A	1.37:g.92789439G>A	ENSP00000476948:p.Arg321Lys					RPAP2_ENST00000484158.1_3'UTR	p.R321K	NM_024813.2	NP_079089.2	Q8IXW5	RPAP2_HUMAN		all cancers(265;0.00647)|GBM - Glioblastoma multiforme(16;0.0234)|Epithelial(280;0.115)	8	1071	+		all_lung(203;0.0565)|Lung NSC(277;0.152)|Glioma(108;0.222)	321					C9JKB5|Q49AS7|Q9H8Y2	Missense_Mutation	SNP	ENST00000610020.1	37	c.962G>A	CCDS740.1	.	.	.	.	.	.	.	.	.	.	G	1.077	-0.668197	0.03428	.	.	ENSG00000122484	ENST00000370343;ENST00000394482	.	.	.	6.07	1.95	0.26073	.	0.761122	0.13945	N	0.351903	T	0.05181	0.0138	N	0.14661	0.345	0.20563	N	0.99989	B	0.15473	0.013	B	0.14023	0.01	T	0.33137	-0.9880	8	0.06099	T	0.92	1.6556	1.4802	0.02435	0.2113:0.233:0.4024:0.1533	.	321	Q8IXW5	RPAP2_HUMAN	K	321	.	ENSP00000359368:R321K	R	+	2	0	RPAP2	92562027	0.001000	0.12720	0.004000	0.12327	0.485000	0.33311	0.200000	0.17257	0.088000	0.17205	0.655000	0.94253	AGG		0.348	RPAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028368.2	NM_024813		29	145	0	0	0	1	0	29	145				
HIST1H2AH	85235	broad.mit.edu	37	6	27115050	27115050	+	Missense_Mutation	SNP	C	C	T	rs528220464		TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr6:27115050C>T	ENST00000377459.1	+	1	190	c.143C>T	c.(142-144)gCg>gTg	p.A48V	HIST1H2BK_ENST00000396891.4_5'Flank|MIR3143_ENST00000584253.1_RNA|HIST1H2BK_ENST00000356950.1_5'Flank	NM_080596.1	NP_542163.1	Q96KK5	H2A1H_HUMAN	histone cluster 1, H2ah	48						extracellular vesicular exosome (GO:0070062)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(7)|prostate(1)|skin(1)	12						GGAGCCGGCGCGCCAGTGTAC	0.657																																						ENST00000377459.1																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(7)|prostate(1)|skin(1)	12						c.(142-144)gCg>gTg		histone cluster 1, H2ah							43.0	47.0	45.0					6																	27115050		2203	4300	6503	SO:0001583	missense	85235				nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr6:27115050C>T	AY131988	CCDS4622.1	6p22.1	2011-01-27	2006-10-11			ENSG00000274997		"""Histones / Replication-dependent"""	13671	protein-coding gene	gene with protein product		615013	"""histone 1, H2ah"""			12408966	Standard	NM_080596		Approved	H2AFALii, dJ86C11.1, H2A/S	uc003niz.4	Q96KK5		ENST00000377459.1:c.143C>T	6.37:g.27115050C>T	ENSP00000366679:p.Ala48Val						p.A48V	NM_080596.1	NP_542163.1	Q96KK5	H2A1H_HUMAN			1	190	+			48						Missense_Mutation	SNP	ENST00000377459.1	37	c.143C>T	CCDS4622.1	.	.	.	.	.	.	.	.	.	.	C	15.23	2.771012	0.49680	.	.	ENSG00000184825	ENST00000377459	T	0.75821	-0.97	3.95	3.95	0.45737	Histone-fold (2);Histone core (1);Histone H2A (2);	0.000000	0.40728	N	0.001036	D	0.87103	0.6094	M	0.93462	3.42	0.42403	D	0.992575	D	0.89917	1.0	D	0.73380	0.98	D	0.90443	0.4433	10	0.87932	D	0	.	14.3093	0.66405	0.0:1.0:0.0:0.0	.	48	Q96KK5	H2A1H_HUMAN	V	48	ENSP00000366679:A48V	ENSP00000366679:A48V	A	+	2	0	HIST1H2AH	27223029	1.000000	0.71417	0.988000	0.46212	0.021000	0.10359	7.034000	0.76511	2.142000	0.66516	0.655000	0.94253	GCG		0.657	HIST1H2AH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040136.1	NM_080596		99	111	0	0	0	1	0	99	111				
SEPT9	10801	broad.mit.edu	37	17	75478454	75478454	+	Intron	SNP	G	G	A	rs201255655		TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr17:75478454G>A	ENST00000427177.1	+	4	1039				SEPT9_ENST00000592481.1_Intron|SEPT9_ENST00000590294.1_Intron|SEPT9_ENST00000591088.1_Intron|SEPT9_ENST00000449803.2_Intron|SEPT9_ENST00000592420.1_Missense_Mutation_p.R126Q|SEPT9_ENST00000431235.2_Intron|SEPT9_ENST00000541152.2_Intron|SEPT9_ENST00000427180.1_Intron|SEPT9_ENST00000423034.2_Intron|SEPT9_ENST00000427674.2_Intron|SEPT9_ENST00000591198.1_Intron|SEPT9_ENST00000329047.8_Intron|SEPT9_ENST00000590917.1_Intron|SEPT9_ENST00000592951.1_Intron|SEPT9_ENST00000588690.1_Intron|SEPT9_ENST00000585930.1_Intron	NM_001113491.1	NP_001106963.1	Q9UHD8	SEPT9_HUMAN	septin 9						cell cycle (GO:0007049)|cell division (GO:0051301)|GTP catabolic process (GO:0006184)|protein heterooligomerization (GO:0051291)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|perinuclear region of cytoplasm (GO:0048471)|stress fiber (GO:0001725)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			autonomic_ganglia(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|prostate(2)	16			BRCA - Breast invasive adenocarcinoma(99;0.153)			AACCAATGCCGGAAACCAGCC	0.587													g|||	1	0.000199681	0.0008	0.0	5008	,	,		17880	0.0		0.0	False		,,,				2504	0.0					ENST00000592420.1																			0				autonomic_ganglia(1)|breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|prostate(2)	16						c.(376-378)cGg>cAg		septin 9							23.0	25.0	24.0					17																	75478454		2125	4230	6355	SO:0001627	intron_variant	10801				cell cycle|cell division|protein heterooligomerization	microtubule|perinuclear region of cytoplasm|stress fiber	GTP binding|GTPase activity|protein binding	g.chr17:75478454G>A	AB023208	CCDS45790.1, CCDS45791.1, CCDS45792.1, CCDS45793.1, CCDS45794.1, CCDS45795.1, CCDS74166.1	17q25.3	2014-09-17	2005-01-11	2005-01-12	ENSG00000184640	ENSG00000184640		"""Septins"""	7323	protein-coding gene	gene with protein product	"""Ov/Br septin"""	604061	"""MLL septin-like fusion"""	MSF		10339604, 10485469	Standard	NM_006640		Approved	MSF1, KIAA0991, PNUTL4, AF17q25, SeptD1	uc002jts.4	Q9UHD8		ENST00000427177.1:c.913+37G>A	17.37:g.75478454G>A						SEPT9_ENST00000431235.2_Intron|SEPT9_ENST00000427674.2_Intron|SEPT9_ENST00000592481.1_Intron|SEPT9_ENST00000427180.1_Intron|SEPT9_ENST00000591198.1_Intron|SEPT9_ENST00000585930.1_Intron|SEPT9_ENST00000541152.2_Intron|SEPT9_ENST00000590917.1_Intron|SEPT9_ENST00000449803.2_Intron|SEPT9_ENST00000329047.8_Intron|SEPT9_ENST00000590294.1_Intron|SEPT9_ENST00000427177.1_Intron|SEPT9_ENST00000588690.1_Intron|SEPT9_ENST00000591088.1_Intron|SEPT9_ENST00000592951.1_Intron|SEPT9_ENST00000423034.2_Intron	p.R126Q			Q9UHD8	SEPT9_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.153)		2	832	+			193					A8K2V3|B3KPM0|B4DTL9|B4E0N2|B4E274|B7Z654|Q96QF3|Q96QF4|Q96QF5|Q9HA04|Q9UG40|Q9Y5W4	Missense_Mutation	SNP	ENST00000427177.1	37	c.377G>A	CCDS45790.1																																																																																				0.587	SEPT9-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000436304.2	NM_006640		3	39	0	0	0	1	0	3	39				
ZNF793	390927	broad.mit.edu	37	19	38023283	38023283	+	Missense_Mutation	SNP	T	T	C			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr19:38023283T>C	ENST00000587143.1	+	4	276	c.41T>C	c.(40-42)gTt>gCt	p.V14A	ZNF793_ENST00000588578.1_Missense_Mutation_p.V14A|ZNF793_ENST00000589319.1_Missense_Mutation_p.V14A|ZNF793_ENST00000587986.1_Missense_Mutation_p.V14A|ZNF793_ENST00000445217.1_Missense_Mutation_p.V14A|ZNF793_ENST00000542455.1_Missense_Mutation_p.V14A			Q6ZN11	ZN793_HUMAN	zinc finger protein 793	14	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			kidney(2)|lung(1)	3			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			AAAGATGTGGTTGTGGGCTTC	0.507																																					Melanoma(44;400 1431 1499 19093)	ENST00000445217.1																			0				kidney(2)|lung(1)	3						c.(40-42)gTt>gCt		zinc finger protein 793							56.0	59.0	58.0					19																	38023283		2172	4294	6466	SO:0001583	missense	390927				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:38023283T>C	AK131417	CCDS46062.1	19q13.12	2013-01-08				ENSG00000188227		"""Zinc fingers, C2H2-type"", ""-"""	33115	protein-coding gene	gene with protein product							Standard	NM_001013659		Approved		uc010efm.3	Q6ZN11		ENST00000587143.1:c.41T>C	19.37:g.38023283T>C	ENSP00000468605:p.Val14Ala					ZNF793_ENST00000587986.1_Missense_Mutation_p.V14A|ZNF793_ENST00000587143.1_Missense_Mutation_p.V14A|ZNF793_ENST00000589319.1_Missense_Mutation_p.V14A|ZNF793_ENST00000542455.1_Missense_Mutation_p.V14A|ZNF793_ENST00000588578.1_Missense_Mutation_p.V14A	p.V14A			Q6ZN11	ZN793_HUMAN	COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)		2	76	+			14			KRAB.		E9PGN4|Q7Z3Q9	Missense_Mutation	SNP	ENST00000587143.1	37	c.41T>C	CCDS46062.1	.	.	.	.	.	.	.	.	.	.	T	0.977	-0.698257	0.03279	.	.	ENSG00000188227	ENST00000542455;ENST00000418827;ENST00000445217;ENST00000322299	T;T	0.01034	5.42;5.42	3.53	2.51	0.30379	Krueppel-associated box (4);	.	.	.	.	T	0.00271	0.0008	N	0.00106	-2.12	0.24455	N	0.99447	B;B	0.32245	0.361;0.241	B;B	0.33521	0.165;0.045	T	0.40590	-0.9555	9	0.02654	T	1	.	4.2501	0.10691	0.0:0.2529:0.0:0.7471	.	14;14	Q6ZN11;E9PGN4	ZN793_HUMAN;.	A	14;14;14;13	ENSP00000444355:V14A;ENSP00000396402:V14A	ENSP00000318811:V13A	V	+	2	0	ZNF793	42715123	0.923000	0.31300	0.990000	0.47175	0.726000	0.41606	1.522000	0.35921	1.590000	0.49995	0.460000	0.39030	GTT		0.507	ZNF793-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458621.1	NM_001013659		46	46	0	0	0	1	0	46	46				
PRDM15	63977	broad.mit.edu	37	21	43221560	43221560	+	Missense_Mutation	SNP	G	G	A	rs538385630		TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr21:43221560G>A	ENST00000269844.3	-	31	4474	c.4364C>T	c.(4363-4365)aCg>aTg	p.T1455M	PRDM15_ENST00000398548.1_Missense_Mutation_p.T1126M|PRDM15_ENST00000447207.2_Missense_Mutation_p.T1089M|PRDM15_ENST00000470586.1_5'UTR|PRDM15_ENST00000538201.1_Missense_Mutation_p.T1109M|PRDM15_ENST00000422911.1_Missense_Mutation_p.T1146M	NM_022115.3	NP_071398.3	P57071	PRD15_HUMAN	PR domain containing 15	1455					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(3)|skin(2)|stomach(2)|urinary_tract(1)	43						CCCCAGGGGCGTGATGGAGTT	0.642													g|||	1	0.000199681	0.0008	0.0	5008	,	,		16068	0.0		0.0	False		,,,				2504	0.0					ENST00000422911.1																			0				NS(2)|breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|lung(11)|ovary(3)|skin(2)|stomach(2)|urinary_tract(1)	43						c.(3436-3438)aCg>aTg		PR domain containing 15							90.0	78.0	82.0					21																	43221560		2203	4300	6503	SO:0001583	missense	63977				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr21:43221560G>A	AF276513	CCDS13676.1, CCDS42932.1, CCDS63370.1	21q22.3	2013-01-08	2002-07-31		ENSG00000141956	ENSG00000141956		"""Zinc fingers, C2H2-type"""	13999	protein-coding gene	gene with protein product			"""chromosome 21 open reading frame 83"""	ZNF298, C21orf83		12036297, 12036298	Standard	NM_022115		Approved		uc002yzq.1	P57071	OTTHUMG00000086781	ENST00000269844.3:c.4364C>T	21.37:g.43221560G>A	ENSP00000269844:p.Thr1455Met					PRDM15_ENST00000398548.1_Missense_Mutation_p.T1126M|PRDM15_ENST00000538201.1_Missense_Mutation_p.T1109M|PRDM15_ENST00000269844.3_Missense_Mutation_p.T1455M|PRDM15_ENST00000447207.2_Missense_Mutation_p.T1089M|PRDM15_ENST00000470586.1_5'UTR	p.T1146M			P57071	PRD15_HUMAN			25	3538	-			1455					E9PDJ6|E9PF37|E9PGL3|Q4W8S0|Q4W8S3|Q4W8S4|Q4W8S5|Q8N0X3|Q8NEX0|Q9NQV3	Missense_Mutation	SNP	ENST00000269844.3	37	c.3437C>T	CCDS13676.1	.	.	.	.	.	.	.	.	.	.	g	19.11	3.764483	0.69878	.	.	ENSG00000141956	ENST00000422911;ENST00000398548;ENST00000538201;ENST00000447207;ENST00000269844	T;T;T;T;T	0.10288	3.04;3.03;3.05;3.04;2.89	4.39	4.39	0.52855	.	.	.	.	.	T	0.14485	0.0350	N	0.14661	0.345	0.26796	N	0.969294	D;D;D	0.71674	0.998;0.975;0.992	P;B;P	0.54706	0.759;0.288;0.65	T	0.15665	-1.0429	9	0.87932	D	0	-17.2865	15.9821	0.80116	0.0:0.0:1.0:0.0	.	1455;1146;1126	P57071;E9PDJ6;E9PF37	PRD15_HUMAN;.;.	M	1146;1126;1109;1089;1455	ENSP00000408592:T1146M;ENSP00000381556:T1126M;ENSP00000444044:T1109M;ENSP00000390245:T1089M;ENSP00000269844:T1455M	ENSP00000269844:T1455M	T	-	2	0	PRDM15	42094629	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	4.580000	0.60942	1.982000	0.57802	0.457000	0.33378	ACG		0.642	PRDM15-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_022115		44	195	0	0	0	1	0	44	195				
CDH10	1008	broad.mit.edu	37	5	24511546	24511546	+	Missense_Mutation	SNP	T	T	C			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr5:24511546T>C	ENST00000264463.4	-	6	1399	c.892A>G	c.(892-894)Act>Gct	p.T298A		NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN	cadherin 10, type 2 (T2-cadherin)	298	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185				STAD - Stomach adenocarcinoma(35;0.0556)		TTTTTCCCAGTGTCAGCATCA	0.423										HNSCC(23;0.051)																												ENST00000264463.4																			0				NS(1)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(29)|lung(111)|ovary(6)|pancreas(6)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)	185						c.(892-894)Act>Gct		cadherin 10, type 2 (T2-cadherin)							172.0	142.0	152.0					5																	24511546		2203	4300	6503	SO:0001583	missense	1008				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:24511546T>C	AF039747	CCDS3892.1	5p14.2	2010-01-26			ENSG00000040731	ENSG00000040731		"""Cadherins / Major cadherins"""	1749	protein-coding gene	gene with protein product		604555				2059658	Standard	NM_006727		Approved		uc003jgr.2	Q9Y6N8	OTTHUMG00000090667	ENST00000264463.4:c.892A>G	5.37:g.24511546T>C	ENSP00000264463:p.Thr298Ala	HNSCC(23;0.051)					p.T298A	NM_006727.3	NP_006718.2	Q9Y6N8	CAD10_HUMAN		STAD - Stomach adenocarcinoma(35;0.0556)	6	1399	-			298			Cadherin 3.		Q9ULB3	Missense_Mutation	SNP	ENST00000264463.4	37	c.892A>G	CCDS3892.1	.	.	.	.	.	.	.	.	.	.	T	15.10	2.732170	0.48939	.	.	ENSG00000040731	ENST00000264463	T	0.01613	4.73	5.22	5.22	0.72569	Cadherin (4);Cadherin-like (1);	0.346069	0.32372	N	0.006182	T	0.01489	0.0048	N	0.10707	0.03	0.32188	N	0.579528	B	0.09022	0.002	B	0.17722	0.019	T	0.35574	-0.9783	10	0.41790	T	0.15	.	14.2676	0.66129	0.0:0.0:0.0:1.0	.	298	Q9Y6N8	CAD10_HUMAN	A	298	ENSP00000264463:T298A	ENSP00000264463:T298A	T	-	1	0	CDH10	24547303	0.758000	0.28405	0.997000	0.53966	0.993000	0.82548	1.178000	0.31981	1.951000	0.56629	0.528000	0.53228	ACT		0.423	CDH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207345.2	NM_006727		16	172	0	0	0	1	0	16	172				
ADA	100	broad.mit.edu	37	20	43251533	43251533	+	Silent	SNP	G	G	A			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr20:43251533G>A	ENST00000372874.4	-	8	851	c.717C>T	c.(715-717)ggC>ggT	p.G239G	ADA_ENST00000537820.1_Silent_p.G215G|PKIG_ENST00000372887.1_Intron|ADA_ENST00000464097.1_5'UTR|PKIG_ENST00000372882.3_Intron	NM_000022.2	NP_000013.2	P00813	ADA_HUMAN	adenosine deaminase	239					adenosine catabolic process (GO:0006154)|aging (GO:0007568)|cell adhesion (GO:0007155)|dATP catabolic process (GO:0046061)|deoxyadenosine catabolic process (GO:0006157)|embryonic digestive tract development (GO:0048566)|germinal center B cell differentiation (GO:0002314)|histamine secretion (GO:0001821)|hypoxanthine salvage (GO:0043103)|inosine biosynthetic process (GO:0046103)|liver development (GO:0001889)|lung alveolus development (GO:0048286)|negative regulation of adenosine receptor signaling pathway (GO:0060169)|negative regulation of circadian sleep/wake cycle, non-REM sleep (GO:0042323)|negative regulation of inflammatory response (GO:0050728)|negative regulation of leukocyte migration (GO:0002686)|negative regulation of mature B cell apoptotic process (GO:0002906)|negative regulation of mucus secretion (GO:0070256)|negative regulation of penile erection (GO:0060407)|negative regulation of thymocyte apoptotic process (GO:0070244)|nucleobase-containing small molecule metabolic process (GO:0055086)|Peyer's patch development (GO:0048541)|placenta development (GO:0001890)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of germinal center formation (GO:0002636)|positive regulation of heart rate (GO:0010460)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of T cell differentiation in thymus (GO:0033089)|positive regulation of T cell receptor signaling pathway (GO:0050862)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide salvage (GO:0032261)|purine ribonucleoside monophosphate biosynthetic process (GO:0009168)|purine-containing compound salvage (GO:0043101)|regulation of cell-cell adhesion mediated by integrin (GO:0033632)|response to drug (GO:0042493)|response to hydrogen peroxide (GO:0042542)|response to hypoxia (GO:0001666)|response to morphine (GO:0043278)|response to vitamin E (GO:0033197)|small molecule metabolic process (GO:0044281)|T cell activation (GO:0042110)|trophectodermal cell differentiation (GO:0001829)|xanthine biosynthetic process (GO:0046111)	cell junction (GO:0030054)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendrite cytoplasm (GO:0032839)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|lysosome (GO:0005764)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	adenosine deaminase activity (GO:0004000)|purine nucleoside binding (GO:0001883)|zinc ion binding (GO:0008270)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|ovary(1)|pancreas(2)|prostate(3)|skin(2)|urinary_tract(1)	18		all_lung(126;1.24e-07)|Lung NSC(126;1.94e-07)|Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)		Adenosine(DB00640)|Dipyridamole(DB00975)|Edetic Acid(DB00974)|Nelarabine(DB01280)|Pentostatin(DB00552)|Theophylline(DB00277)|Vidarabine(DB00194)	GGGTGTGGTAGCCGTGTCCCA	0.592									Adenosine Deaminase Deficiency																													ENST00000372874.4																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|ovary(1)|pancreas(2)|prostate(3)|skin(2)|urinary_tract(1)	18						c.(715-717)ggC>ggT		adenosine deaminase	Adenosine(DB00640)|Cladribine(DB00242)|Dipyridamole(DB00975)|Erythromycin(DB00199)|Fludarabine(DB01073)|Idoxuridine(DB00249)|Nelarabine(DB01280)|Pentostatin(DB00552)|Theophylline(DB00277)|Vidarabine(DB00194)						110.0	116.0	114.0					20																	43251533		2203	4300	6503	SO:0001819	synonymous_variant	100	Adenosine Deaminase Deficiency	Familial Cancer Database	Severe Combined Immunodeficiency (SCID) due to ADA-deficiency	adenosine catabolic process|cell adhesion|hypoxanthine salvage|inosine biosynthetic process|negative regulation of adenosine receptor signaling pathway|purine nucleotide salvage|purine ribonucleoside monophosphate biosynthetic process|regulation of cell-cell adhesion mediated by integrin|response to hypoxia|T cell activation	cell junction|cytoplasmic membrane-bounded vesicle lumen|cytosol|external side of plasma membrane|lysosome	adenosine deaminase activity|protein binding|zinc ion binding	g.chr20:43251533G>A	X02994	CCDS13335.1	20q13.12	2014-09-17			ENSG00000196839	ENSG00000196839	3.5.4.4		186	protein-coding gene	gene with protein product		608958				6198240, 6090454	Standard	NM_000022		Approved		uc002xmj.3	P00813	OTTHUMG00000033081	ENST00000372874.4:c.717C>T	20.37:g.43251533G>A						ADA_ENST00000464097.1_5'UTR|PKIG_ENST00000372882.3_Intron|ADA_ENST00000537820.1_Silent_p.G215G|PKIG_ENST00000372887.1_Intron	p.G239G	NM_000022.2	NP_000013.2	P00813	ADA_HUMAN	COAD - Colon adenocarcinoma(18;0.00189)		8	851	-		all_lung(126;1.24e-07)|Lung NSC(126;1.94e-07)|Myeloproliferative disorder(115;0.0122)	239					Q53F92|Q6LA59	Silent	SNP	ENST00000372874.4	37	c.717C>T	CCDS13335.1																																																																																				0.592	ADA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080509.2	NM_000022		101	218	0	0	0	1	0	101	218				
ERCC6	2074	broad.mit.edu	37	10	50669597	50669597	+	Missense_Mutation	SNP	C	C	T	rs115319252		TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr10:50669597C>T	ENST00000355832.5	-	19	3862	c.3784G>A	c.(3784-3786)Gtg>Atg	p.V1262M	RP11-123B3.2_ENST00000423283.1_RNA|ERCC6_ENST00000542458.1_Missense_Mutation_p.V632M|ERCC6_ENST00000465653.1_5'UTR	NM_000124.2	NP_000115.1	Q03468	ERCC6_HUMAN	excision repair cross-complementation group 6	1262					activation of JNKK activity (GO:0007256)|activation of JUN kinase activity (GO:0007257)|ATP catabolic process (GO:0006200)|base-excision repair (GO:0006284)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|multicellular organism growth (GO:0035264)|nucleotide-excision repair (GO:0006289)|photoreceptor cell maintenance (GO:0045494)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|positive regulation of protein tyrosine kinase activity (GO:0061098)|pyrimidine dimer repair (GO:0006290)|regulation of DNA-templated transcription, elongation (GO:0032784)|response to gamma radiation (GO:0010332)|response to oxidative stress (GO:0006979)|response to superoxide (GO:0000303)|response to toxic substance (GO:0009636)|response to UV (GO:0009411)|response to UV-B (GO:0010224)|response to X-ray (GO:0010165)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase II promoter (GO:0006366)|transcription-coupled nucleotide-excision repair (GO:0006283)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)|protein N-terminus binding (GO:0047485)|protein tyrosine kinase activator activity (GO:0030296)			breast(5)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						ACACTGTGCACGCCAACTAGC	0.458								Direct reversal of damage;Nucleotide excision repair (NER)					C|||	1	0.000199681	0.0	0.0	5008	,	,		19996	0.001		0.0	False		,,,				2504	0.0					ENST00000355832.5																			0				breast(5)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						c.(3784-3786)Gtg>Atg	Direct reversal of damage;Nucleotide excision repair (NER)	excision repair cross-complementing rodent repair deficiency, complementation group 6							62.0	48.0	52.0					10																	50669597		2203	4300	6503	SO:0001583	missense	2074				base-excision repair|positive regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair	nucleolus|soluble fraction|transcription elongation factor complex	ATP binding|chromatin binding|DNA binding|DNA-dependent ATPase activity|helicase activity|protein C-terminus binding|protein complex binding|protein N-terminus binding	g.chr10:50669597C>T	L04791	CCDS7229.1	10q11	2014-09-17	2014-03-07		ENSG00000225830	ENSG00000225830			3438	protein-coding gene	gene with protein product	"""Cockayne syndrome B protein"""	609413	"""excision repair cross-complementing rodent repair deficiency, complementation group 6"""	CKN2		1339317, 19179336	Standard	NM_000124		Approved	CSB, RAD26, ARMD5	uc001jhs.5	Q03468	OTTHUMG00000018195	ENST00000355832.5:c.3784G>A	10.37:g.50669597C>T	ENSP00000348089:p.Val1262Met					ERCC6_ENST00000465653.1_5'UTR|ERCC6_ENST00000542458.1_Missense_Mutation_p.V632M|RP11-123B3.2_ENST00000423283.1_RNA	p.V1262M	NM_000124.2	NP_000115.1	Q03468	ERCC6_HUMAN			19	3862	-			1262					D3DX94|Q5W0L9	Missense_Mutation	SNP	ENST00000355832.5	37	c.3784G>A	CCDS7229.1	.	.	.	.	.	.	.	.	.	.	C	18.29	3.592088	0.66219	.	.	ENSG00000225830	ENST00000355832;ENST00000374129;ENST00000542458	D;D	0.87887	-2.31;-2.02	5.2	5.2	0.72013	.	.	.	.	.	D	0.93363	0.7884	M	0.89095	3.005	0.42862	D	0.994114	D;D	0.89917	0.999;1.0	D;D	0.65987	0.94;0.931	D	0.94161	0.7414	9	0.87932	D	0	-21.3958	11.7377	0.51775	0.0:0.9184:0.0:0.0816	.	1262;639	Q03468;Q59FF6	ERCC6_HUMAN;.	M	1262;639;632	ENSP00000348089:V1262M;ENSP00000445134:V632M	ENSP00000348089:V1262M	V	-	1	0	ERCC6	50339603	0.999000	0.42202	0.956000	0.39512	0.802000	0.45316	3.826000	0.55738	2.578000	0.87016	0.655000	0.94253	GTG		0.458	ERCC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047990.1	NM_000124		13	41	0	0	0	1	0	13	41				
ANK3	288	broad.mit.edu	37	10	61831145	61831145	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr10:61831145C>T	ENST00000280772.2	-	37	9685	c.9494G>A	c.(9493-9495)aGc>aAc	p.S3165N	ANK3_ENST00000373827.2_Intron|ANK3_ENST00000503366.1_Intron|ANK3_ENST00000355288.2_Intron	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN	ankyrin 3, node of Ranvier (ankyrin G)	3165					axon guidance (GO:0007411)|axonogenesis (GO:0007409)|cytoskeletal anchoring at plasma membrane (GO:0007016)|establishment of protein localization (GO:0045184)|Golgi to plasma membrane protein transport (GO:0043001)|maintenance of protein location in plasma membrane (GO:0072660)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|neuromuscular junction development (GO:0007528)|neuronal action potential (GO:0019228)|plasma membrane organization (GO:0007009)|positive regulation of cell communication by electrical coupling (GO:0010650)|positive regulation of gene expression (GO:0010628)|positive regulation of homotypic cell-cell adhesion (GO:0034112)|positive regulation of membrane depolarization during cardiac muscle cell action potential (GO:1900827)|positive regulation of membrane potential (GO:0045838)|positive regulation of protein targeting to membrane (GO:0090314)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|positive regulation of sodium ion transport (GO:0010765)|protein localization to plasma membrane (GO:0072659)|protein targeting to plasma membrane (GO:0072661)|regulation of potassium ion transport (GO:0043266)|signal transduction (GO:0007165)	axon initial segment (GO:0043194)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|costamere (GO:0043034)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|lysosome (GO:0005764)|neuromuscular junction (GO:0031594)|node of Ranvier (GO:0033268)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|T-tubule (GO:0030315)|Z disc (GO:0030018)	cadherin binding (GO:0045296)|cytoskeletal protein binding (GO:0008092)|ion channel binding (GO:0044325)|protein binding, bridging (GO:0030674)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)			NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						GGTTAAAGGGCTTTTCCCAGA	0.438																																						ENST00000280772.1																			0				NS(4)|breast(7)|central_nervous_system(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(5)|kidney(14)|large_intestine(30)|liver(2)|lung(59)|ovary(8)|pancreas(2)|prostate(5)|skin(26)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(7)	196						c.(9493-9495)aGc>aAc		ankyrin 3, node of Ranvier (ankyrin G)							88.0	94.0	92.0					10																	61831145		2203	4300	6503	SO:0001583	missense	288				establishment of protein localization|signal transduction	basolateral plasma membrane|cytoplasm|cytoskeleton	protein binding	g.chr10:61831145C>T	U13616	CCDS7258.1, CCDS7259.1, CCDS55711.1, CCDS55712.1	10q21	2013-01-10			ENSG00000151150	ENSG00000151150		"""Ankyrin repeat domain containing"""	494	protein-coding gene	gene with protein product	"""ankyrin-3, node of Ranvier"", ""ankyrin-G"""	600465				7665168	Standard	NM_020987		Approved		uc001jky.3	Q12955	OTTHUMG00000018288	ENST00000280772.2:c.9494G>A	10.37:g.61831145C>T	ENSP00000280772:p.Ser3165Asn					ANK3_ENST00000355288.2_Intron|ANK3_ENST00000503366.1_Intron|ANK3_ENST00000373827.2_Intron	p.S3165N	NM_020987.3	NP_066267.2	Q12955	ANK3_HUMAN			37	9685	-			3165					B1AQT2|B4DIL1|E9PE32|Q13484|Q5CZH9|Q5VXD5|Q7Z3G4|Q9H0P5	Missense_Mutation	SNP	ENST00000280772.2	37	c.9494G>A	CCDS7258.1	.	.	.	.	.	.	.	.	.	.	C	20.1	3.938327	0.73557	.	.	ENSG00000151150	ENST00000280772	D	0.86097	-2.07	5.48	5.48	0.80851	.	0.128764	0.35349	N	0.003276	D	0.85708	0.5759	M	0.61703	1.905	0.80722	D	1	P	0.34562	0.457	B	0.36534	0.227	D	0.86060	0.1531	10	0.66056	D	0.02	.	19.359	0.94428	0.0:1.0:0.0:0.0	.	3165	Q12955	ANK3_HUMAN	N	3165	ENSP00000280772:S3165N	ENSP00000280772:S3165N	S	-	2	0	ANK3	61501151	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.818000	0.86416	2.584000	0.87258	0.561000	0.74099	AGC		0.438	ANK3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048201.4	NM_020987		69	79	0	0	0	1	0	69	79				
SPOPL	339745	broad.mit.edu	37	2	139308504	139308504	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr2:139308504G>A	ENST00000280098.4	+	4	611	c.232G>A	c.(232-234)Gat>Aat	p.D78N		NM_001001664.2	NP_001001664.1	Q6IQ16	SPOPL_HUMAN	speckle-type POZ protein-like	78	MATH. {ECO:0000255|PROSITE- ProRule:PRU00129}.				negative regulation of protein ubiquitination (GO:0031397)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination (GO:0016567)	Cul3-RING ubiquitin ligase complex (GO:0031463)|nucleus (GO:0005634)				breast(2)|cervix(2)|endometrium(2)|large_intestine(2)|lung(11)|skin(2)	21				BRCA - Breast invasive adenocarcinoma(221;0.0296)		GGGATTAGATGATGAAAGTAA	0.368																																						ENST00000280098.4																			0				breast(2)|cervix(2)|endometrium(2)|large_intestine(2)|lung(11)|skin(2)	21						c.(232-234)Gat>Aat		speckle-type POZ protein-like							87.0	92.0	90.0					2																	139308504		2203	4299	6502	SO:0001583	missense	339745					nucleus		g.chr2:139308504G>A		CCDS33298.1	2q22.1	2013-01-09			ENSG00000144228	ENSG00000144228		"""BTB/POZ domain containing"""	27934	protein-coding gene	gene with protein product	"""HIB homolog 2"", ""roadkill homolog 2"""						Standard	NM_001001664		Approved	BTBD33	uc002tvh.3	Q6IQ16	OTTHUMG00000153635	ENST00000280098.4:c.232G>A	2.37:g.139308504G>A	ENSP00000280098:p.Asp78Asn						p.D78N	NM_001001664.2	NP_001001664.1	Q6IQ16	SPOPL_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0296)	4	611	+			78			MATH.			Missense_Mutation	SNP	ENST00000280098.4	37	c.232G>A	CCDS33298.1	.	.	.	.	.	.	.	.	.	.	G	25.8	4.679002	0.88542	.	.	ENSG00000144228	ENST00000280098	T	0.39592	1.07	5.78	5.78	0.91487	TRAF-type (1);TRAF-like (1);MATH (3);	0.042739	0.85682	D	0.000000	T	0.50684	0.1630	L	0.38175	1.15	0.80722	D	1	P	0.45634	0.863	P	0.52386	0.697	T	0.45818	-0.9235	10	0.56958	D	0.05	-3.1497	20.0044	0.97430	0.0:0.0:1.0:0.0	.	78	Q6IQ16	SPOPL_HUMAN	N	78	ENSP00000280098:D78N	ENSP00000280098:D78N	D	+	1	0	SPOPL	139024974	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.869000	0.99810	2.714000	0.92807	0.650000	0.86243	GAT		0.368	SPOPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331897.1			29	118	0	0	0	1	0	29	118				
KCNV1	27012	broad.mit.edu	37	8	110980643	110980643	+	Missense_Mutation	SNP	C	C	A			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr8:110980643C>A	ENST00000524391.1	-	4	2209	c.1177G>T	c.(1177-1179)Gtg>Ttg	p.V393L	KCNV1_ENST00000297404.1_Missense_Mutation_p.V393L			Q6PIU1	KCNV1_HUMAN	potassium channel, subfamily V, member 1	393					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|ion channel inhibitor activity (GO:0008200)|potassium channel regulator activity (GO:0015459)			breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(20)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	all_neural(195;0.219)		OV - Ovarian serous cystadenocarcinoma(57;5.35e-13)			CCATATCCCACAGTAGTCATA	0.463																																						ENST00000524391.1																			0				breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(20)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37						c.(1177-1179)Gtg>Ttg		potassium channel, subfamily V, member 1							107.0	105.0	106.0					8																	110980643		2203	4300	6503	SO:0001583	missense	27012					voltage-gated potassium channel complex	ion channel inhibitor activity|potassium channel regulator activity|voltage-gated potassium channel activity	g.chr8:110980643C>A	AF167082	CCDS6314.1	8q23.2	2011-07-05				ENSG00000164794		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	18861	protein-coding gene	gene with protein product		608164				8670833, 16382104	Standard	NM_014379		Approved	Kv8.1	uc003ynr.4	Q6PIU1		ENST00000524391.1:c.1177G>T	8.37:g.110980643C>A	ENSP00000435954:p.Val393Leu					KCNV1_ENST00000297404.1_Missense_Mutation_p.V393L	p.V393L			Q6PIU1	KCNV1_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;5.35e-13)		4	2209	-	all_neural(195;0.219)		393					Q9UHJ4	Missense_Mutation	SNP	ENST00000524391.1	37	c.1177G>T	CCDS6314.1	.	.	.	.	.	.	.	.	.	.	C	28.3	4.909571	0.92107	.	.	ENSG00000164794	ENST00000524391;ENST00000297404;ENST00000545728	D;D	0.98090	-4.71;-4.71	5.46	5.46	0.80206	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.98707	0.9566	M	0.85373	2.75	0.80722	D	1	D	0.63046	0.992	D	0.76071	0.987	D	0.98977	1.0803	10	0.27082	T	0.32	.	18.3113	0.90201	0.0:1.0:0.0:0.0	.	393	Q6PIU1	KCNV1_HUMAN	L	393;393;269	ENSP00000435954:V393L;ENSP00000297404:V393L	ENSP00000297404:V393L	V	-	1	0	KCNV1	111049819	1.000000	0.71417	0.945000	0.38365	0.935000	0.57460	7.814000	0.86154	2.539000	0.85634	0.655000	0.94253	GTG		0.463	KCNV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385525.1	NM_014379		99	166	1	0	1.14069e-49	1	1.62198e-49	99	166				
KCNT2	343450	broad.mit.edu	37	1	196227430	196227430	+	Missense_Mutation	SNP	T	T	A			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr1:196227430T>A	ENST00000294725.9	-	26	4020	c.3105A>T	c.(3103-3105)aaA>aaT	p.K1035N	KCNT2_ENST00000451324.2_3'UTR|KCNT2_ENST00000498426.1_5'UTR|KCNT2_ENST00000367433.5_Missense_Mutation_p.K1011N|KCNT2_ENST00000609185.1_Missense_Mutation_p.K968N|KCNT2_ENST00000367431.4_Missense_Mutation_p.K969N			Q6UVM3	KCNT2_HUMAN	potassium channel, subfamily T, member 2	1035					potassium ion transmembrane transport (GO:0071805)	voltage-gated potassium channel complex (GO:0008076)	ATP binding (GO:0005524)|calcium-activated potassium channel activity (GO:0015269)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						GCTGGGTTATTTTTTCAGCTG	0.473																																						ENST00000367433.5																			0				NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(16)|lung(43)|ovary(5)|pancreas(1)|prostate(1)|skin(11)|stomach(2)|upper_aerodigestive_tract(1)	97						c.(3031-3033)aaA>aaT		potassium channel, subfamily T, member 2							114.0	109.0	111.0					1																	196227430		2203	4300	6503	SO:0001583	missense	343450					voltage-gated potassium channel complex	ATP binding|calcium-activated potassium channel activity|voltage-gated potassium channel activity	g.chr1:196227430T>A	BX647852, AY359444, AK127807	CCDS1384.1, CCDS72994.1, CCDS72995.1	1q31.3	2012-07-05			ENSG00000162687	ENSG00000162687		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, calcium-activated"""	18866	protein-coding gene	gene with protein product	"""sodium and chloride activated ATP sensitive potassium channel"""	610044				16382103	Standard	NM_198503		Approved	KCa4.2, SLICK, SLO2.1	uc001gtd.1	Q6UVM3	OTTHUMG00000035611	ENST00000294725.9:c.3105A>T	1.37:g.196227430T>A	ENSP00000294725:p.Lys1035Asn					KCNT2_ENST00000498426.1_5'UTR|KCNT2_ENST00000367431.4_Missense_Mutation_p.K969N|KCNT2_ENST00000294725.8_Missense_Mutation_p.K1035N|KCNT2_ENST00000451324.2_3'UTR	p.K1011N			Q6UVM3	KCNT2_HUMAN			25	3134	-			1035					Q3SY59|Q5VTN1|Q6ZMT3	Missense_Mutation	SNP	ENST00000294725.9	37	c.3033A>T	CCDS1384.1	.	.	.	.	.	.	.	.	.	.	T	12.82	2.051710	0.36181	.	.	ENSG00000162687	ENST00000367433;ENST00000367431;ENST00000294725	T;T;T	0.18502	2.21;2.21;2.48	5.74	0.766	0.18476	.	0.090906	0.47852	D	0.000208	T	0.06142	0.0159	N	0.01352	-0.895	0.80722	D	1	B;B;B;B	0.28512	0.214;0.137;0.214;0.061	B;B;B;B	0.34652	0.187;0.053;0.124;0.024	T	0.38714	-0.9648	10	0.25106	T	0.35	-29.0701	10.1065	0.42537	0.0:0.3507:0.0:0.6493	.	1000;1011;968;1035	Q6UVM3-4;Q6UVM3-2;Q6UVM3-3;Q6UVM3	.;.;.;KCNT2_HUMAN	N	1011;969;1035	ENSP00000356403:K1011N;ENSP00000356401:K969N;ENSP00000294725:K1035N	ENSP00000294725:K1035N	K	-	3	2	KCNT2	194494053	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	1.354000	0.34056	0.089000	0.17243	-0.263000	0.10527	AAA		0.473	KCNT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086418.2	NM_198503		68	94	0	0	0	1	0	68	94				
KRT3	3850	broad.mit.edu	37	12	53187953	53187953	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr12:53187953C>T	ENST00000417996.2	-	2	882	c.808G>A	c.(808-810)Ggg>Agg	p.G270R	KRT3_ENST00000309505.3_Missense_Mutation_p.G270R	NM_057088.2	NP_476429.2	P12035	K2C3_HUMAN	keratin 3	270	Coil 1B.|Rod.				epithelial cell differentiation (GO:0030855)|intermediate filament cytoskeleton organization (GO:0045104)	extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			NS(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|prostate(2)|skin(1)	23						TCCAGGCGCCCTCTCTCCCCG	0.547																																						ENST00000417996.2																			0				NS(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|prostate(2)|skin(1)	23						c.(808-810)Ggg>Agg		keratin 3							155.0	171.0	166.0					12																	53187953		2197	4300	6497	SO:0001583	missense	3850				epithelial cell differentiation|intermediate filament cytoskeleton organization	keratin filament	structural molecule activity	g.chr12:53187953C>T		CCDS44895.1	12q13.13	2013-01-16			ENSG00000186442	ENSG00000186442		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6440	protein-coding gene	gene with protein product	"""keratin, type II cytoskeletal 3"", ""cytokeratin 3"""	148043				7510223, 16831889	Standard	NM_057088		Approved	CK3, K3	uc001say.3	P12035	OTTHUMG00000169799	ENST00000417996.2:c.808G>A	12.37:g.53187953C>T	ENSP00000413479:p.Gly270Arg					KRT3_ENST00000309505.3_Missense_Mutation_p.G270R	p.G270R	NM_057088.2	NP_476429.2	P12035	K2C3_HUMAN			2	882	-			270			Coil 1B.|Rod.		A6NIS2|Q701L8	Missense_Mutation	SNP	ENST00000417996.2	37	c.808G>A	CCDS44895.1	.	.	.	.	.	.	.	.	.	.	C	6.100	0.386702	0.11524	.	.	ENSG00000186442	ENST00000417996;ENST00000309505	D;D	0.86030	-2.06;-2.06	4.69	1.85	0.25348	Filament (1);	0.000000	0.47852	D	0.000219	D	0.83238	0.5211	M	0.77103	2.36	0.24492	N	0.994298	D	0.57899	0.981	P	0.48089	0.566	T	0.72494	-0.4276	10	0.25751	T	0.34	.	3.8923	0.09123	0.1335:0.591:0.1291:0.1463	.	270	P12035	K2C3_HUMAN	R	270	ENSP00000413479:G270R;ENSP00000312206:G270R	ENSP00000312206:G270R	G	-	1	0	KRT3	51474220	0.000000	0.05858	0.994000	0.49952	0.273000	0.26683	-0.101000	0.10973	0.298000	0.22638	-0.137000	0.14449	GGG		0.547	KRT3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000405930.1	NM_057088		92	399	0	0	0	1	0	92	399				
DYX1C1	161582	broad.mit.edu	37	15	55724725	55724725	+	Missense_Mutation	SNP	C	C	G			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr15:55724725C>G	ENST00000321149.3	-	9	1490	c.1123G>C	c.(1123-1125)Gca>Cca	p.A375P	DYX1C1_ENST00000457155.2_Intron|DYX1C1-CCPG1_ENST00000565113.1_RNA|DYX1C1_ENST00000348518.3_Intron|DYX1C1_ENST00000380679.1_Intron|DYX1C1_ENST00000448430.2_Intron	NM_130810.3	NP_570722.2	Q8WXU2	DYXC1_HUMAN	dyslexia susceptibility 1 candidate 1	375					cilium movement (GO:0003341)|determination of left/right symmetry (GO:0007368)|inner dynein arm assembly (GO:0036159)|neuron migration (GO:0001764)|outer dynein arm assembly (GO:0036158)|regulation of intracellular estrogen receptor signaling pathway (GO:0033146)|regulation of proteasomal protein catabolic process (GO:0061136)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	estrogen receptor binding (GO:0030331)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	18				all cancers(107;0.0118)|GBM - Glioblastoma multiforme(80;0.171)		TGACAGAATGCTGTTCCACGT	0.328																																						ENST00000321149.3																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	18						c.(1123-1125)Gca>Cca		dyslexia susceptibility 1 candidate 1							111.0	100.0	104.0					15																	55724725		2193	4292	6485	SO:0001583	missense	161582				neuron migration|regulation of estrogen receptor signaling pathway|regulation of proteasomal protein catabolic process	cytoplasm|nucleus	estrogen receptor binding	g.chr15:55724725C>G		CCDS10154.1, CCDS32243.1, CCDS32244.1	15q21.3	2014-09-11			ENSG00000256061	ENSG00000256061		"""Tetratricopeptide (TTC) repeat domain containing"""	21493	protein-coding gene	gene with protein product		608706				12954984	Standard	NM_130810		Approved	EKN1, FLJ37882, CILD25	uc002adc.3	Q8WXU2	OTTHUMG00000132008	ENST00000321149.3:c.1123G>C	15.37:g.55724725C>G	ENSP00000323275:p.Ala375Pro					DYX1C1_ENST00000348518.3_Intron|DYX1C1-CCPG1_ENST00000565113.1_RNA|DYX1C1_ENST00000448430.2_Intron|DYX1C1_ENST00000457155.2_Intron|DYX1C1_ENST00000380679.1_Intron	p.A375P	NM_130810.3	NP_570722.2	Q8WXU2	DYXC1_HUMAN		all cancers(107;0.0118)|GBM - Glioblastoma multiforme(80;0.171)	9	1490	-			375					Q6P5Y9|Q8N1S6	Missense_Mutation	SNP	ENST00000321149.3	37	c.1123G>C	CCDS10154.1	.	.	.	.	.	.	.	.	.	.	C	29.7	5.026005	0.93518	.	.	ENSG00000256061	ENST00000321149	T	0.69435	-0.4	5.57	5.57	0.84162	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.000000	0.85682	U	0.000000	D	0.86997	0.6068	M	0.94063	3.49	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.89972	0.4094	10	0.87932	D	0	.	18.6006	0.91247	0.0:1.0:0.0:0.0	.	375	Q8WXU2	DYXC1_HUMAN	P	375	ENSP00000323275:A375P	ENSP00000323275:A375P	A	-	1	0	DYX1C1	53512017	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.680000	0.74518	2.653000	0.90120	0.644000	0.83932	GCA		0.328	DYX1C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254976.1	NM_130810		30	93	0	0	0	1	0	30	93				
DNAH8	1769	broad.mit.edu	37	6	38800181	38800181	+	Missense_Mutation	SNP	C	C	A			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr6:38800181C>A	ENST00000359357.3	+	29	3875	c.3621C>A	c.(3619-3621)gaC>gaA	p.D1207E	DNAH8_ENST00000441566.1_Missense_Mutation_p.D1207E|DNAH8_ENST00000449981.2_Missense_Mutation_p.D1424E			Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy chain 8	1207					cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						TTCGTGAGGACGTGATAAACT	0.333																																						ENST00000359357.3																			0				NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						c.(3619-3621)gaC>gaA		dynein, axonemal, heavy chain 8							131.0	125.0	127.0					6																	38800181		2203	4300	6503	SO:0001583	missense	1769							g.chr6:38800181C>A	Z83806	CCDS75447.1	6p21.2	2012-04-19	2006-09-04		ENSG00000124721	ENSG00000124721		"""Axonemal dyneins"""	2952	protein-coding gene	gene with protein product		603337	"""dynein, axonemal, heavy polypeptide 8"""			9373155	Standard	NM_001206927		Approved	hdhc9	uc021yzh.1	Q96JB1	OTTHUMG00000016253	ENST00000359357.3:c.3621C>A	6.37:g.38800181C>A	ENSP00000352312:p.Asp1207Glu					DNAH8_ENST00000449981.2_Missense_Mutation_p.D1424E|DNAH8_ENST00000441566.1_Missense_Mutation_p.D1207E	p.D1207E							29	3875	+								O00438|Q5JYI2|Q5T2M3|Q5T2M4|Q5TG00|Q9UEM4	Missense_Mutation	SNP	ENST00000359357.3	37	c.3621C>A		.	.	.	.	.	.	.	.	.	.	C	12.71	2.018928	0.35606	.	.	ENSG00000124721	ENST00000449981;ENST00000327475;ENST00000359357;ENST00000441566	T;T;T	0.24538	1.9;1.9;1.85	5.23	1.62	0.23740	.	0.119289	0.53938	D	0.000050	T	0.06826	0.0174	L	0.45228	1.405	0.44677	D	0.997667	B	0.28850	0.225	B	0.29267	0.1	T	0.18241	-1.0343	10	0.09590	T	0.72	.	8.8634	0.35272	0.0:0.194:0.0:0.806	.	1207	Q96JB1	DYH8_HUMAN	E	1412;1412;1207;1207	ENSP00000333363:D1412E;ENSP00000352312:D1207E;ENSP00000402294:D1207E	ENSP00000333363:D1412E	D	+	3	2	DNAH8	38908159	1.000000	0.71417	0.977000	0.42913	0.837000	0.47467	1.404000	0.34623	0.045000	0.15804	-0.251000	0.11542	GAC		0.333	DNAH8-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000043574.1	NM_001206927		31	69	1	0	1.99505e-19	1	2.46076e-19	31	69				
ITIH2	3698	broad.mit.edu	37	10	7759724	7759724	+	Missense_Mutation	SNP	A	A	T			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr10:7759724A>T	ENST00000358415.4	+	6	769	c.603A>T	c.(601-603)caA>caT	p.Q201H	ITIH2_ENST00000379587.4_Missense_Mutation_p.Q190H|ITIH2_ENST00000480387.1_3'UTR	NM_002216.2	NP_002207.2	P19823	ITIH2_HUMAN	inter-alpha-trypsin inhibitor heavy chain 2	201					hyaluronan metabolic process (GO:0030212)|negative regulation of endopeptidase activity (GO:0010951)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	endopeptidase inhibitor activity (GO:0004866)|serine-type endopeptidase inhibitor activity (GO:0004867)			NS(2)|breast(1)|endometrium(8)|kidney(1)|large_intestine(17)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						TCTATCTGCAACCTGGACGGC	0.502																																						ENST00000358415.4																			0				NS(2)|breast(1)|endometrium(8)|kidney(1)|large_intestine(17)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						c.(601-603)caA>caT		inter-alpha-trypsin inhibitor heavy chain 2							142.0	137.0	138.0					10																	7759724		2203	4300	6503	SO:0001583	missense	3698				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity	g.chr10:7759724A>T	X07173	CCDS31141.1	10p14	2011-10-26	2011-10-26		ENSG00000151655	ENSG00000151655			6167	protein-coding gene	gene with protein product		146640	"""inter-alpha (globulin) inhibitor, H2 polypeptide"""			1385302, 10100603	Standard	NM_002216		Approved	H2P	uc001ijs.3	P19823	OTTHUMG00000017633	ENST00000358415.4:c.603A>T	10.37:g.7759724A>T	ENSP00000351190:p.Gln201His					ITIH2_ENST00000379587.4_Missense_Mutation_p.Q190H|ITIH2_ENST00000480387.1_3'UTR	p.Q201H	NM_002216.2	NP_002207.2	P19823	ITIH2_HUMAN			6	769	+			201					Q14659|Q15484|Q5T986	Missense_Mutation	SNP	ENST00000358415.4	37	c.603A>T	CCDS31141.1	.	.	.	.	.	.	.	.	.	.	A	15.88	2.963588	0.53507	.	.	ENSG00000151655	ENST00000358415;ENST00000429820;ENST00000379587	T;T;T	0.18657	4.82;2.2;4.81	5.47	0.367	0.16140	.	0.356519	0.32868	N	0.005544	T	0.17066	0.0410	L	0.37630	1.12	0.48452	D	0.999656	P	0.41597	0.756	P	0.46796	0.527	T	0.08932	-1.0698	10	0.72032	D	0.01	-2.1292	1.8726	0.03211	0.3312:0.1214:0.4224:0.125	.	201	P19823	ITIH2_HUMAN	H	201;176;190	ENSP00000351190:Q201H;ENSP00000388826:Q176H;ENSP00000368906:Q190H	ENSP00000351190:Q201H	Q	+	3	2	ITIH2	7799730	1.000000	0.71417	0.889000	0.34880	0.455000	0.32408	2.744000	0.47450	-0.197000	0.10350	-0.132000	0.14878	CAA		0.502	ITIH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046678.2	NM_002216		158	132	0	0	0	1	0	158	132				
NFKBIZ	64332	broad.mit.edu	37	3	101571589	101571589	+	Missense_Mutation	SNP	G	G	T			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr3:101571589G>T	ENST00000326172.5	+	3	552	c.437G>T	c.(436-438)gGt>gTt	p.G146V	NFKBIZ_ENST00000394054.2_Missense_Mutation_p.G46V|NFKBIZ_ENST00000326151.5_Missense_Mutation_p.G146V	NM_031419.3	NP_113607.1	Q9BYH8	IKBZ_HUMAN	nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, zeta	146					inflammatory response (GO:0006954)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24						TAGACACAAGGTGTGAACATA	0.308																																						ENST00000326172.5																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	24						c.(436-438)gGt>gTt		nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor, zeta							74.0	77.0	76.0					3																	101571589		2203	4300	6503	SO:0001583	missense	64332				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chr3:101571589G>T	AF548362	CCDS2946.1, CCDS43123.1	3p12-q12	2013-01-10			ENSG00000144802	ENSG00000144802		"""Ankyrin repeat domain containing"""	29805	protein-coding gene	gene with protein product	"""IL-1 inducible nuclear ankyrin-repeat protein"""	608004				12565889, 16513645	Standard	NM_031419		Approved	MAIL, FLJ34463, INAP	uc003dvp.3	Q9BYH8	OTTHUMG00000159194	ENST00000326172.5:c.437G>T	3.37:g.101571589G>T	ENSP00000325663:p.Gly146Val					NFKBIZ_ENST00000394054.2_Missense_Mutation_p.G46V|NFKBIZ_ENST00000326151.5_Missense_Mutation_p.G146V	p.G146V	NM_031419.3	NP_113607.1	Q9BYH8	IKBZ_HUMAN			3	552	+			146					B3KNR2|D3DN54|Q8IUL4|Q8NAZ8	Missense_Mutation	SNP	ENST00000326172.5	37	c.437G>T	CCDS2946.1	.	.	.	.	.	.	.	.	.	.	G	17.76	3.469879	0.63625	.	.	ENSG00000144802	ENST00000483180;ENST00000394054;ENST00000326151;ENST00000326172;ENST00000491281	T;T;T;T	0.57107	0.48;0.44;0.42;0.51	5.72	5.72	0.89469	.	0.593958	0.16515	N	0.211077	T	0.55545	0.1927	N	0.19112	0.55	0.54753	D	0.999987	P;B	0.50369	0.934;0.376	P;B	0.53593	0.73;0.1	T	0.60094	-0.7330	10	0.87932	D	0	-22.3972	19.4874	0.95035	0.0:0.0:1.0:0.0	.	146;146	Q9BYH8-3;Q9BYH8	.;IKBZ_HUMAN	V	46;46;146;146;46	ENSP00000419800:G46V;ENSP00000377618:G46V;ENSP00000325593:G146V;ENSP00000325663:G146V	ENSP00000325593:G146V	G	+	2	0	NFKBIZ	103054279	1.000000	0.71417	0.991000	0.47740	0.858000	0.48976	2.676000	0.46883	2.709000	0.92574	0.561000	0.74099	GGT		0.308	NFKBIZ-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000353793.1	NM_031419		26	80	1	0	6.32553e-13	1	7.20034e-13	26	80				
BGLT3	103344929	broad.mit.edu	37	11	5264414	5264414	+	RNA	SNP	C	C	A	rs548915358	byFrequency	TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr11:5264414C>A	ENST00000564523.1	-	0	1988				HBBP1_ENST00000454892.1_RNA																							TGAGGTCATCCGTGAGCATAA	0.502																																						ENST00000454892.1																			0																																																			3044							g.chr11:5264414C>A																													11.37:g.5264414C>A								NR_001589.1						0	82	-									RNA	SNP	ENST00000564523.1	37																																																																																						0.502	CTD-2643I7.1-001	KNOWN	basic	sense_overlapping	sense_overlapping	OTTHUMT00000422245.1			17	38	1	0	1.15088e-07	1	1.21624e-07	17	38				
AURKC	6795	broad.mit.edu	37	19	57744012	57744012	+	Missense_Mutation	SNP	G	G	T			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr19:57744012G>T	ENST00000302804.7	+	4	585	c.399G>T	c.(397-399)caG>caT	p.Q133H	AURKC_ENST00000415300.2_Missense_Mutation_p.Q114H|AURKC_ENST00000448930.1_Missense_Mutation_p.Q99H|AURKC_ENST00000598785.1_Missense_Mutation_p.Q99H|AURKC_ENST00000599062.1_Missense_Mutation_p.Q130H	NM_001015878.1	NP_001015878.1	Q9UQB9	AURKC_HUMAN	aurora kinase C	133	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				attachment of spindle microtubules to kinetochore (GO:0008608)|cytokinesis (GO:0000910)|histone modification (GO:0016570)|meiotic nuclear division (GO:0007126)|positive regulation of cytokinesis (GO:0032467)|protein phosphorylation (GO:0006468)|spindle midzone assembly involved in mitosis (GO:0051256)	chromosome passenger complex (GO:0032133)|chromosome, centromeric region (GO:0000775)|condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|midbody (GO:0030496)|nucleus (GO:0005634)|spindle (GO:0005819)|spindle midzone (GO:0051233)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)			breast(1)|endometrium(1)|large_intestine(9)|lung(9)|ovary(3)|prostate(1)|stomach(1)	25		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0122)		AGGAGCTGCAGAAAAGCGAGA	0.537																																						ENST00000302804.7																			0				breast(1)|endometrium(1)|large_intestine(9)|lung(9)|ovary(3)|prostate(1)|stomach(1)	25						c.(397-399)caG>caT		aurora kinase C							82.0	77.0	79.0					19																	57744012		2203	4300	6503	SO:0001583	missense	6795				cell cycle|cytokinesis	condensed chromosome|cytoplasm|midbody|spindle midzone	ATP binding|protein serine/threonine kinase activity	g.chr19:57744012G>T		CCDS33128.1, CCDS46205.1, CCDS46206.1	19q13.43	2013-09-19	2003-07-21	2003-07-23	ENSG00000105146	ENSG00000105146			11391	protein-coding gene	gene with protein product		603495	"""serine/threonine kinase 13 (aurora/IPL1-like)"""	STK13		9799611	Standard	XR_430209		Approved	AurC, ARK3	uc002qoe.3	Q9UQB9	OTTHUMG00000183106	ENST00000302804.7:c.399G>T	19.37:g.57744012G>T	ENSP00000302898:p.Gln133His					AURKC_ENST00000415300.2_Missense_Mutation_p.Q114H|AURKC_ENST00000599062.1_Missense_Mutation_p.Q130H|AURKC_ENST00000448930.1_Missense_Mutation_p.Q99H|AURKC_ENST00000598785.1_Missense_Mutation_p.Q99H	p.Q133H	NM_001015878.1	NP_001015878.1	Q9UQB9	AURKC_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.0122)	4	585	+		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)	133			Protein kinase.		O60681|O75442|Q6AZY8|Q6DLZ0|Q9UPK5	Missense_Mutation	SNP	ENST00000302804.7	37	c.399G>T	CCDS33128.1	.	.	.	.	.	.	.	.	.	.	A	6.313	0.425897	0.11987	.	.	ENSG00000105146	ENST00000415300;ENST00000448930;ENST00000302804	T;T;T	0.66815	-0.23;-0.23;-0.23	3.81	-3.99	0.04069	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.059804	0.64402	D	0.000002	T	0.58538	0.2129	N	0.25957	0.775	0.30531	N	0.767443	P;D;B	0.65815	0.462;0.995;0.083	B;P;B	0.57283	0.349;0.817;0.237	T	0.63037	-0.6726	10	0.66056	D	0.02	-14.6399	7.5896	0.28012	0.4527:0.1174:0.43:0.0	.	130;133;114	Q5Y191;Q9UQB9;Q9UQB9-3	.;AURKC_HUMAN;.	H	114;99;133	ENSP00000407162:Q114H;ENSP00000406798:Q99H;ENSP00000302898:Q133H	ENSP00000302898:Q133H	Q	+	3	2	AURKC	62435824	0.699000	0.27786	0.003000	0.11579	0.086000	0.17979	-0.208000	0.09371	-1.204000	0.02648	-0.940000	0.02684	CAG		0.537	AURKC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465089.1	NM_003160		167	123	1	0	3.57155e-81	1	5.40149e-81	167	123				
OR10G4	390264	broad.mit.edu	37	11	123886778	123886778	+	Missense_Mutation	SNP	C	C	G			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr11:123886778C>G	ENST00000320891.4	+	1	497	c.497C>G	c.(496-498)cCc>cGc	p.P166R		NM_001004462.1	NP_001004462.1	Q8NGN3	O10G4_HUMAN	olfactory receptor, family 10, subfamily G, member 4	166						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1)|skin(4)|stomach(6)|upper_aerodigestive_tract(1)	48		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401)		TTCCATTTGCCCTACTGTGGA	0.562																																						ENST00000320891.4																			0				NS(1)|central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(8)|lung(19)|ovary(1)|prostate(1)|skin(4)|stomach(6)|upper_aerodigestive_tract(1)	48						c.(496-498)cCc>cGc		olfactory receptor, family 10, subfamily G, member 4							140.0	127.0	132.0					11																	123886778		2200	4279	6479	SO:0001583	missense	390264				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:123886778C>G	AB065757	CCDS31702.1	11q24.1	2012-08-09			ENSG00000254737	ENSG00000254737		"""GPCR / Class A : Olfactory receptors"""	14809	protein-coding gene	gene with protein product							Standard	NM_001004462		Approved		uc010sac.2	Q8NGN3	OTTHUMG00000165966	ENST00000320891.4:c.497C>G	11.37:g.123886778C>G	ENSP00000325076:p.Pro166Arg						p.P166R	NM_001004462.1	NP_001004462.1	Q8NGN3	O10G4_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0401)	1	497	+		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)	166					Q6IEW0	Missense_Mutation	SNP	ENST00000320891.4	37	c.497C>G	CCDS31702.1	.	.	.	.	.	.	.	.	.	.	c	11.47	1.649528	0.29336	.	.	ENSG00000254737	ENST00000320891	T	0.00193	8.58	3.33	3.33	0.38152	GPCR, rhodopsin-like superfamily (1);	0.000000	0.46442	D	0.000296	T	0.00468	0.0015	M	0.83118	2.625	0.31013	N	0.718991	D	0.56287	0.975	D	0.70227	0.968	T	0.15037	-1.0451	10	0.87932	D	0	.	5.4925	0.16785	0.2:0.6916:0.0:0.1084	.	166	Q8NGN3	O10G4_HUMAN	R	166	ENSP00000325076:P166R	ENSP00000325076:P166R	P	+	2	0	OR10G4	123391988	0.001000	0.12720	0.997000	0.53966	0.153000	0.21895	1.336000	0.33850	1.878000	0.54408	0.580000	0.79431	CCC		0.562	OR10G4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387268.1	NM_001004462		140	209	0	0	0	1	0	140	209				
IGHV3-30	28439	broad.mit.edu	37	14	106791010	106791010	+	RNA	SNP	C	C	T			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr14:106791010C>T	ENST00000390613.2	-	0	425									immunoglobulin heavy variable 3-30																		GTGTCTCTCGCACAGTAATAC	0.567																																						ENST00000390613.2																			0																				238.0	282.0	267.0					14																	106791010		2088	4225	6313			28439							g.chr14:106791010C>T	M83134		14q32.33	2012-02-08			ENSG00000211953	ENSG00000270550		"""Immunoglobulins / IGH locus"""	5591	other	immunoglobulin gene							Standard	NG_001019		Approved				OTTHUMG00000152069		14.37:g.106791010C>T														0	425	-									RNA	SNP	ENST00000390613.2	37																																																																																						0.567	IGHV3-30-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000325163.1	NG_001019		55	1269	0	0	0	1	0	55	1269				
ZNF512B	57473	broad.mit.edu	37	20	62598358	62598358	+	Splice_Site	SNP	C	C	A			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr20:62598358C>A	ENST00000450537.1	-	4	325		c.e4-1		ZNF512B_ENST00000217130.3_Splice_Site|ZNF512B_ENST00000369888.1_Splice_Site			Q96KM6	Z512B_HUMAN	zinc finger protein 512B						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)|cervix(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(16)|ovary(1)|prostate(4)|skin(1)	33	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)					TCAGGGAGAGCTAGGCGTGGG	0.647																																						ENST00000450537.1																			0				NS(1)|cervix(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(3)|lung(16)|ovary(1)|prostate(4)|skin(1)	33						c.e4-1		zinc finger protein 512B							107.0	97.0	101.0					20																	62598358		2201	4300	6501	SO:0001630	splice_region_variant	57473				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr20:62598358C>A	AB033022	CCDS13548.1	20q13.33	2011-02-09			ENSG00000196700	ENSG00000196700			29212	protein-coding gene	gene with protein product						10574462	Standard	NM_020713		Approved	GM632, MGC149845, MGC149846	uc002yhl.2	Q96KM6	OTTHUMG00000033008	ENST00000450537.1:c.265-1G>T	20.37:g.62598358C>A						ZNF512B_ENST00000217130.3_Splice_Site|ZNF512B_ENST00000369888.1_Splice_Site				Q96KM6	Z512B_HUMAN			4	325	-	all_cancers(38;2.14e-11)|all_epithelial(29;3.41e-13)|Lung NSC(23;3.41e-09)|all_lung(23;1.06e-08)							Q08AK9|Q9ULM4	Splice_Site	SNP	ENST00000450537.1	37		CCDS13548.1	.	.	.	.	.	.	.	.	.	.	C	15.19	2.759794	0.49468	.	.	ENSG00000196700	ENST00000369888;ENST00000450537;ENST00000217130	.	.	.	4.68	4.68	0.58851	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.9623	0.79939	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ZNF512B	62068802	1.000000	0.71417	0.999000	0.59377	0.691000	0.40173	5.995000	0.70631	2.430000	0.82344	0.555000	0.69702	.		0.647	ZNF512B-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080246.1	NM_020713	Intron	60	85	1	0	2.19297e-23	1	2.76056e-23	60	85				
NPAP1	23742	broad.mit.edu	37	15	24922855	24922855	+	Missense_Mutation	SNP	C	C	A			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr15:24922855C>A	ENST00000329468.2	+	1	2315	c.1841C>A	c.(1840-1842)cCg>cAg	p.P614Q		NM_018958.2	NP_061831.2	Q9NZP6	NPAP1_HUMAN	nuclear pore associated protein 1	614					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)											CAGAGGCACCCGGGAAAGACA	0.478																																						ENST00000329468.2																			0											c.(1840-1842)cCg>cAg		nuclear pore associated protein 1							86.0	98.0	94.0					15																	24922855		2203	4300	6503	SO:0001583	missense	23742							g.chr15:24922855C>A	AF179681	CCDS10015.1	15q11-q13	2012-07-19	2012-06-14	2012-06-14	ENSG00000185823	ENSG00000185823			1190	protein-coding gene	gene with protein product		610922	"""chromosome 15 open reading frame 2"""	C15orf2		10783265, 22694955	Standard	NM_018958		Approved		uc001ywo.3	Q9NZP6	OTTHUMG00000129179	ENST00000329468.2:c.1841C>A	15.37:g.24922855C>A	ENSP00000333735:p.Pro614Gln						p.P614Q	NM_018958.2	NP_061831.2					1	2315	+									Missense_Mutation	SNP	ENST00000329468.2	37	c.1841C>A	CCDS10015.1	.	.	.	.	.	.	.	.	.	.	.	6.795	0.515612	0.12944	.	.	ENSG00000185823	ENST00000329468	T	0.06449	3.3	1.68	0.742	0.18341	.	2.333990	0.02290	N	0.070201	T	0.04092	0.0114	N	0.14661	0.345	0.09310	N	1	P	0.44309	0.832	B	0.35312	0.2	T	0.28396	-1.0045	10	0.72032	D	0.01	.	4.3199	0.11011	0.0:0.7841:0.0:0.2159	.	614	Q9NZP6	CO002_HUMAN	Q	614	ENSP00000333735:P614Q	ENSP00000333735:P614Q	P	+	2	0	C15orf2	22473948	0.000000	0.05858	0.003000	0.11579	0.032000	0.12392	-0.060000	0.11712	0.258000	0.21686	-1.026000	0.02426	CCG		0.478	NPAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251253.1	NM_018958		34	134	1	0	3.90053e-15	1	4.58633e-15	34	134				
CLIP2	7461	broad.mit.edu	37	7	73791082	73791082	+	Missense_Mutation	SNP	G	G	C	rs199672192	byFrequency	TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr7:73791082G>C	ENST00000395060.1	+	9	2351	c.2351G>C	c.(2350-2352)cGg>cCg	p.R784P	CLIP2_ENST00000361545.5_Missense_Mutation_p.R749P|CLIP2_ENST00000223398.6_Missense_Mutation_p.R784P			Q9UDT6	CLIP2_HUMAN	CAP-GLY domain containing linker protein 2	784						cytoplasmic microtubule (GO:0005881)|microtubule associated complex (GO:0005875)|microtubule plus-end (GO:0035371)				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(13)|pancreas(1)|prostate(2)|skin(3)	30						GAGAGTTTGCGGGAGAAGCTC	0.647																																						ENST00000223398.6																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(7)|lung(13)|pancreas(1)|prostate(2)|skin(3)	30						c.(2350-2352)cGg>cCg		CAP-GLY domain containing linker protein 2							22.0	24.0	23.0					7																	73791082		2202	4300	6502	SO:0001583	missense	7461					microtubule associated complex		g.chr7:73791082G>C	AB006629	CCDS5569.1, CCDS5570.1	7q11.23	2008-06-12	2007-01-04	2007-01-04	ENSG00000106665	ENSG00000106665			2586	protein-coding gene	gene with protein product		603432	"""cytoplasmic linker 2"", ""Williams-Beuren syndrome chromosome region 3"""	WBSCR4, CYLN2, WBSCR3		8812460, 9799601	Standard	NM_003388		Approved	CLIP-115, KIAA0291, WSCR4, CLIP, WSCR3	uc003uam.3	Q9UDT6	OTTHUMG00000022980	ENST00000395060.1:c.2351G>C	7.37:g.73791082G>C	ENSP00000378500:p.Arg784Pro					CLIP2_ENST00000395060.1_Missense_Mutation_p.R784P|CLIP2_ENST00000361545.5_Missense_Mutation_p.R749P	p.R784P	NM_003388.4	NP_003379.3	Q9UDT6	CLIP2_HUMAN			10	2678	+			784					O14527|O43611	Missense_Mutation	SNP	ENST00000395060.1	37	c.2351G>C	CCDS5569.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.74|12.74	2.027229|2.027229	0.35797|0.35797	.|.	.|.	ENSG00000106665|ENSG00000106665	ENST00000493166|ENST00000539676;ENST00000223398;ENST00000361545;ENST00000395060	.|T;T;T	.|0.59906	.|0.23;0.24;0.23	4.92|4.92	2.81|2.81	0.32909|0.32909	.|.	.|0.475663	.|0.23492	.|N	.|0.047598	T|T	0.38772|0.38772	0.1053|0.1053	L|L	0.27053|0.27053	0.805|0.805	0.33100|0.33100	D|D	0.539176|0.539176	.|B;P;P	.|0.43094	.|0.335;0.799;0.697	.|B;B;B	.|0.40066	.|0.225;0.318;0.169	T|T	0.51387|0.51387	-0.8712|-0.8712	5|10	.|0.49607	.|T	.|0.09	-30.091|-30.091	4.4|4.4	0.11381|0.11381	0.459:0.0:0.541:0.0|0.459:0.0:0.541:0.0	.|.	.|749;749;784	.|A7E2F7;Q9UDT6-2;Q9UDT6	.|.;.;CLIP2_HUMAN	R|P	20|784;784;749;784	.|ENSP00000223398:R784P;ENSP00000355151:R749P;ENSP00000378500:R784P	.|ENSP00000223398:R784P	G|R	+|+	1|2	0|0	CLIP2|CLIP2	73429018|73429018	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.658000|0.658000	0.38924|0.38924	5.084000|5.084000	0.64462|0.64462	1.076000|1.076000	0.40961|0.40961	0.549000|0.549000	0.68633|0.68633	GGG|CGG		0.647	CLIP2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252556.1	NM_003388		10	39	0	0	0	1	0	10	39				
KMT2D	8085	broad.mit.edu	37	12	49422696	49422696	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr12:49422696G>A	ENST00000301067.7	-	45	14296	c.14297C>T	c.(14296-14298)cCt>cTt	p.P4766L		NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	4766					chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)										CAGCTTTCCAGGGACCTCCAG	0.547																																						ENST00000301067.7																			0											c.(14296-14298)cCt>cTt		lysine (K)-specific methyltransferase 2D							138.0	142.0	141.0					12																	49422696		1927	4145	6072	SO:0001583	missense	8085							g.chr12:49422696G>A	AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7133	protein-coding gene	gene with protein product		602113	"""trinucleotide repeat containing 21"", ""myeloid/lymphoid or mixed-lineage leukemia 2"""	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.14297C>T	12.37:g.49422696G>A	ENSP00000301067:p.Pro4766Leu						p.P4766L	NM_003482.3	NP_003473.3					45	14296	-								O14687	Missense_Mutation	SNP	ENST00000301067.7	37	c.14297C>T	CCDS44873.1	.	.	.	.	.	.	.	.	.	.	G	12.15	1.850498	0.32699	.	.	ENSG00000167548	ENST00000301067	T	0.79352	-1.26	5.04	5.04	0.67666	.	0.702263	0.11815	N	0.526778	T	0.75309	0.3832	L	0.55213	1.73	0.41865	D	0.990245	B	0.13594	0.008	B	0.09377	0.004	T	0.71500	-0.4574	10	0.87932	D	0	.	14.2508	0.66019	0.0:0.0:1.0:0.0	.	4766	O14686	MLL2_HUMAN	L	4766	ENSP00000301067:P4766L	ENSP00000301067:P4766L	P	-	2	0	MLL2	47708963	0.858000	0.29795	1.000000	0.80357	0.959000	0.62525	4.131000	0.57970	2.517000	0.84864	0.462000	0.41574	CCT		0.547	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2			150	258	0	0	0	1	0	150	258				
SSPO	23145	broad.mit.edu	37	7	149515820	149515820	+	RNA	SNP	C	C	A			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr7:149515820C>A	ENST00000378016.2	+	0	11721							A2VEC9	SSPO_HUMAN	SCO-spondin						cell adhesion (GO:0007155)	extracellular space (GO:0005615)	peptidase inhibitor activity (GO:0030414)					Melanoma(164;0.165)|Ovarian(565;0.177)		OV - Ovarian serous cystadenocarcinoma(82;0.00625)			GGCGCAGCCGCACCCGCCTCT	0.677																																						ENST00000378016.2																			0													SCO-spondin							16.0	18.0	17.0					7																	149515820		2006	4173	6179			23145				cell adhesion	extracellular space	peptidase inhibitor activity	g.chr7:149515820C>A	AK093431		7q36.1	2013-08-07	2013-08-06		ENSG00000197558	ENSG00000197558			21998	protein-coding gene	gene with protein product	"""subcommissural organ spondin"", ""SCO protein, thrombospondin domain containing"""		"""SCO-spondin homolog (Bos taurus)"""			8743952, 11008217	Standard	NM_198455		Approved	SCO-spondin, KIAA0543, FLJ36112	uc010lpk.3	A2VEC9	OTTHUMG00000157884		7.37:g.149515820C>A										A2VEC9	SSPO_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00625)		0	11721	+	Melanoma(164;0.165)|Ovarian(565;0.177)							Q76B61	RNA	SNP	ENST00000378016.2	37																																																																																						0.677	SSPO-202	KNOWN	basic	processed_transcript	processed_transcript				6	28	1	0	1.36491e-13	1	1.57461e-13	6	28				
ZNF595	152687	broad.mit.edu	37	4	59391	59391	+	Silent	SNP	C	C	A			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr4:59391C>A	ENST00000509152.2	+	2	257	c.72C>A	c.(70-72)gcC>gcA	p.A24A	ZNF595_ENST00000339368.6_3'UTR|ZNF595_ENST00000526473.2_Silent_p.A24A			Q8IYB9	ZN595_HUMAN	zinc finger protein 595	24	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.A24A(2)		endometrium(5)|kidney(1)|large_intestine(1)|lung(11)|prostate(2)	20		all_cancers(4;0.0738)|all_epithelial(65;0.139)		Lung(54;0.0654)|Epithelial(2;0.0921)|all cancers(2;0.146)|LUSC - Lung squamous cell carcinoma(95;0.173)		TGGACCCTGCCCAGCAGAATT	0.428																																						ENST00000509152.2																			2	Substitution - coding silent(2)	p.A24A(2)	lung(1)|kidney(1)	endometrium(5)|kidney(1)|large_intestine(1)|lung(11)|prostate(2)	20						c.(70-72)gcC>gcA		zinc finger protein 595							368.0	401.0	389.0					4																	59391		2203	4300	6503	SO:0001819	synonymous_variant	152687							g.chr4:59391C>A	BX537887	CCDS75075.1, CCDS75076.1, CCDS75077.1	4p16.3	2013-01-08				ENSG00000272602		"""Zinc fingers, C2H2-type"", ""-"""	27196	protein-coding gene	gene with protein product						12477932	Standard	NM_182524		Approved	FLJ31740		Q8IYB9		ENST00000509152.2:c.72C>A	4.37:g.59391C>A						ZNF595_ENST00000339368.6_3'UTR|ZNF595_ENST00000526473.2_Silent_p.A24A	p.A24A						Lung(54;0.0654)|Epithelial(2;0.0921)|all cancers(2;0.146)|LUSC - Lung squamous cell carcinoma(95;0.173)	2	257	+		all_cancers(4;0.0738)|all_epithelial(65;0.139)							Silent	SNP	ENST00000509152.2	37	c.72C>A																																																																																					0.428	ZNF595-004	PUTATIVE	basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000357817.2	NM_182524		49	923	1	0	1.7489e-18	1	2.12048e-18	49	923				
SVILP1	645954	broad.mit.edu	37	10	30987150	30987150	+	RNA	SNP	G	G	A			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr10:30987150G>A	ENST00000435645.1	+	0	431									supervillin pseudogene 1																		AAGCTTCTGGGTGGCCAAACC	0.403																																						ENST00000435645.1																			0																																																			645954							g.chr10:30987150G>A			10p11.23	2012-12-20			ENSG00000234814	ENSG00000234814			44959	pseudogene	pseudogene							Standard	NR_036438		Approved				OTTHUMG00000017900		10.37:g.30987150G>A														0	431	+									RNA	SNP	ENST00000435645.1	37																																																																																						0.403	SVILP1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000331601.1			37	108	0	0	0	1	0	37	108				
CFHR2	3080	broad.mit.edu	37	1	196879515	196879515	+	Intron	SNP	T	T	G			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr1:196879515T>G	ENST00000367421.3	+	2	135				CFHR4_ENST00000608469.1_Intron|CFHR4_ENST00000367418.2_Missense_Mutation_p.Y55D|CFHR4_ENST00000251424.4_Intron|CFHR4_ENST00000367416.2_Missense_Mutation_p.Y301D			P36980	FHR2_HUMAN	complement factor H-related 2							extracellular region (GO:0005576)				large_intestine(2)|ovary(1)|skin(3)	6						TTACTCCTATTACTGTGACCA	0.418																																						ENST00000367416.2																			0				NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(20)|ovary(1)|pancreas(1)|skin(2)|stomach(1)	36						c.(901-903)Tac>Gac		complement factor H-related 4																																				SO:0001627	intron_variant	10877							g.chr1:196879515T>G	X64877	CCDS30959.1	1q31.3	2008-02-05	2004-08-09	2006-02-28	ENSG00000080910	ENSG00000080910		"""Complement system"""	4890	protein-coding gene	gene with protein product		600889	"""H factor (complement)-like 3"""	HFL3, CFHL2		1533657, 7672821	Standard	NM_005666		Approved	FHR2	uc001gtq.1	P36980	OTTHUMG00000036518	ENST00000367421.3:c.59-39070T>G	1.37:g.196879515T>G						CFHR4_ENST00000251424.4_Intron|CFHR4_ENST00000367418.1_Missense_Mutation_p.Y55D|CFHR2_ENST00000367421.3_Intron	p.Y301D	NM_001201550.2|NM_001201551.1	NP_001188479.1|NP_001188480.1					6	1038	+								Q14310|Q5T9T1	Missense_Mutation	SNP	ENST00000367421.3	37	c.901T>G		.	.	.	.	.	.	.	.	.	.	.	8.814	0.935951	0.18206	.	.	ENSG00000134365	ENST00000367416;ENST00000367418;ENST00000538553	T;T	0.63913	-0.07;-0.07	2.42	-4.31	0.03698	.	.	.	.	.	T	0.66781	0.2824	M	0.73598	2.24	0.09310	N	1	D;D	0.89917	0.996;1.0	P;D	0.81914	0.86;0.995	T	0.57613	-0.7781	9	0.11485	T	0.65	.	2.3787	0.04348	0.4009:0.2855:0.0:0.3136	.	301;302	C9J7J7;Q5DVJ7	.;.	D	301;55;55	ENSP00000356386:Y301D;ENSP00000356388:Y55D	ENSP00000356386:Y301D	Y	+	1	0	CFHR4	195146138	0.000000	0.05858	0.002000	0.10522	0.058000	0.15608	-0.794000	0.04584	-0.965000	0.03591	0.164000	0.16699	TAC		0.418	CFHR2-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_005666		32	129	0	0	0	1	0	32	129				
MYPN	84665	broad.mit.edu	37	10	69957119	69957119	+	Silent	SNP	C	C	A			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr10:69957119C>A	ENST00000358913.5	+	16	3657	c.3169C>A	c.(3169-3171)Cga>Aga	p.R1057R	MYPN_ENST00000540630.1_Silent_p.R1057R|MYPN_ENST00000354393.2_Silent_p.R782R	NM_001256267.1|NM_032578.3	NP_001243196.1|NP_115967.2	Q86TC9	MYPN_HUMAN	myopalladin	1057	Interaction with ACTN.				sarcomere organization (GO:0045214)	I band (GO:0031674)|nucleus (GO:0005634)|Z disc (GO:0030018)	cytoskeletal protein binding (GO:0008092)|muscle alpha-actinin binding (GO:0051371)|SH3 domain binding (GO:0017124)			breast(2)|central_nervous_system(1)|endometrium(13)|kidney(6)|large_intestine(13)|liver(1)|lung(43)|ovary(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(5)	94						GGGAAGATCCCGAGTGCAAGA	0.443																																						ENST00000358913.5																			0				breast(2)|central_nervous_system(1)|endometrium(13)|kidney(6)|large_intestine(13)|liver(1)|lung(43)|ovary(3)|prostate(1)|skin(6)|upper_aerodigestive_tract(5)	94						c.(3169-3171)Cga>Aga		myopalladin							95.0	97.0	96.0					10																	69957119		2203	4300	6503	SO:0001819	synonymous_variant	84665					nucleus|sarcomere	actin binding	g.chr10:69957119C>A	AL834247	CCDS7275.1, CCDS73142.1	10q22.1	2014-09-17			ENSG00000138347	ENSG00000138347		"""Immunoglobulin superfamily / I-set domain containing"""	23246	protein-coding gene	gene with protein product	"""sarcomeric protein myopalladin, 145 kDa"""	608517				11309420, 12482578	Standard	NM_032578		Approved	MYOP	uc001jnm.5	Q86TC9	OTTHUMG00000018344	ENST00000358913.5:c.3169C>A	10.37:g.69957119C>A						MYPN_ENST00000354393.2_Silent_p.R782R|MYPN_ENST00000540630.1_Silent_p.R1057R	p.R1057R	NM_001256267.1|NM_032578.3	NP_001243196.1|NP_115967.2	Q86TC9	MYPN_HUMAN			16	3657	+			1057			Interaction with ACTN.		Q5VV35|Q5VV36|Q86T37|Q8N3L4|Q96K90|Q96KF5	Silent	SNP	ENST00000358913.5	37	c.3169C>A	CCDS7275.1																																																																																				0.443	MYPN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048307.1	NM_032578		85	84	1	0	1.07134e-49	1	1.52844e-49	85	84				
OR10G9	219870	broad.mit.edu	37	11	123894151	123894151	+	Silent	SNP	C	C	T			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr11:123894151C>T	ENST00000375024.1	+	1	432	c.432C>T	c.(430-432)gcC>gcT	p.A144A		NM_001001953.1	NP_001001953.1	Q8NGN4	O10G9_HUMAN	olfactory receptor, family 10, subfamily G, member 9	144						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(33)|prostate(2)|skin(4)|stomach(8)|urinary_tract(1)	61		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		CCCTCCTGGCCACCAGCACTT	0.527																																						ENST00000375024.1																			0				breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(33)|prostate(2)|skin(4)|stomach(8)|urinary_tract(1)	61						c.(430-432)gcC>gcT		olfactory receptor, family 10, subfamily G, member 9							113.0	98.0	103.0					11																	123894151		2201	4299	6500	SO:0001819	synonymous_variant	219870				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:123894151C>T	AB065756	CCDS31703.1	11q24.1	2012-08-09			ENSG00000236981	ENSG00000236981		"""GPCR / Class A : Olfactory receptors"""	15129	protein-coding gene	gene with protein product				OR10G10P			Standard	NM_001001953		Approved		uc010sad.2	Q8NGN4	OTTHUMG00000165967	ENST00000375024.1:c.432C>T	11.37:g.123894151C>T							p.A144A	NM_001001953.1	NP_001001953.1	Q8NGN4	O10G9_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)	1	432	+		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)	144						Silent	SNP	ENST00000375024.1	37	c.432C>T	CCDS31703.1																																																																																				0.527	OR10G9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387269.1	NM_001001953		45	214	0	0	0	1	0	45	214				
CRELD1	78987	broad.mit.edu	37	3	9982635	9982635	+	Missense_Mutation	SNP	G	G	A	rs371891133		TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr3:9982635G>A	ENST00000383811.3	+	5	1161	c.562G>A	c.(562-564)Ggg>Agg	p.G188R	CRELD1_ENST00000452070.1_Missense_Mutation_p.G188R|CRELD1_ENST00000397170.3_Missense_Mutation_p.G188R|CRELD1_ENST00000326434.5_Missense_Mutation_p.G188R	NM_015513.4	NP_056328	Q96HD1	CREL1_HUMAN	cysteine-rich with EGF-like domains 1	188	EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00076}.				cardiac septum development (GO:0003279)|endocardial cushion development (GO:0003197)	integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|stomach(1)|urinary_tract(1)	14						AGCCGGCTACGGGGGTGAGGC	0.632																																						ENST00000383811.3																			0				NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|stomach(1)|urinary_tract(1)	14						c.(562-564)Ggg>Agg		cysteine-rich with EGF-like domains 1		A	ARG/GLY,ARG/GLY,ARG/GLY	0,4406		0,0,2203	57.0	60.0	59.0		562,562,562	4.5	1.0	3		59	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,missense	CRELD1	NM_015513.4,NM_001077415.2,NM_001031717.3	125,125,125	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign,benign,benign	188/421,188/421,188/423	9982635	1,13005	2203	4300	6503	SO:0001583	missense	78987				cardiac septum development|endocardial cushion development	integral to membrane	calcium ion binding	g.chr3:9982635G>A	AF452623	CCDS2593.1, CCDS33693.1	3p25.3	2005-12-08	2004-02-13		ENSG00000163703	ENSG00000163703			14630	protein-coding gene	gene with protein product		607170	"""atrioventricular septal defect 2"""	AVSD2		10922384, 12137942	Standard	NM_015513		Approved		uc003buf.3	Q96HD1	OTTHUMG00000128653	ENST00000383811.3:c.562G>A	3.37:g.9982635G>A	ENSP00000373322:p.Gly188Arg					CRELD1_ENST00000452070.1_Missense_Mutation_p.G188R|CRELD1_ENST00000326434.5_Missense_Mutation_p.G188R|CRELD1_ENST00000397170.3_Missense_Mutation_p.G188R	p.G188R	NM_015513.4	NP_056328.2	Q96HD1	CREL1_HUMAN			5	1161	+			188			EGF-like 1.		A8MX90|B2RAA9|Q6I9X5|Q8NFT4|Q9Y409	Missense_Mutation	SNP	ENST00000383811.3	37	c.562G>A	CCDS2593.1	.	.	.	.	.	.	.	.	.	.	g	12.52	1.962274	0.34659	0.0	1.16E-4	ENSG00000163703	ENST00000397170;ENST00000383811;ENST00000452070;ENST00000326434	T;T;T;T	0.61859	0.2;0.2;0.2;0.07	5.33	4.47	0.54385	EGF-like, laminin (1);Growth factor, receptor (1);Epidermal growth factor-like (1);EGF-like region, conserved site (2);Epidermal growth factor-like, type 3 (1);	0.197438	0.41823	N	0.000811	T	0.47192	0.1432	L	0.44542	1.39	0.39253	D	0.964062	B;B	0.30793	0.14;0.295	B;B	0.28385	0.013;0.089	T	0.44483	-0.9325	9	.	.	.	.	12.0433	0.53464	0.0843:0.0:0.9157:0.0	.	188;188	Q96HD1;Q96HD1-2	CREL1_HUMAN;.	R	188	ENSP00000380355:G188R;ENSP00000373322:G188R;ENSP00000393643:G188R;ENSP00000321856:G188R	.	G	+	1	0	CRELD1	9957635	1.000000	0.71417	0.970000	0.41538	0.982000	0.71751	3.760000	0.55235	1.266000	0.44231	-0.215000	0.12644	GGG		0.632	CRELD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250533.1	NM_015513		94	95	0	0	0	1	0	94	95				
CRADD	8738	broad.mit.edu	37	12	94072577	94072577	+	Silent	SNP	C	C	G	rs374150855		TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr12:94072577C>G	ENST00000542893.2	+	2	345	c.27C>G	c.(25-27)ctC>ctG	p.L9L	CRADD_ENST00000552983.1_Silent_p.L9L|CRADD_ENST00000541813.1_Silent_p.L9L|CRADD_ENST00000548483.1_Silent_p.L9L|CRADD_ENST00000552033.1_Silent_p.L9L|CRADD_ENST00000332896.3_Silent_p.L9L			P78560	CRADD_HUMAN	CASP2 and RIPK1 domain containing adaptor with death domain	9	CARD. {ECO:0000255|PROSITE- ProRule:PRU00046}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|cellular response to mechanical stimulus (GO:0071260)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|positive regulation of apoptotic signaling pathway (GO:2001235)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	death domain binding (GO:0070513)|protease binding (GO:0002020)|protein binding, bridging (GO:0030674)			endometrium(1)|large_intestine(5)|lung(1)|ovary(1)	8						AACAAGTACTCCGCTCACTTC	0.488																																						ENST00000542893.2																			0				endometrium(1)|large_intestine(5)|lung(1)|ovary(1)	8						c.(25-27)ctC>ctG		CASP2 and RIPK1 domain containing adaptor with death domain							69.0	65.0	66.0					12																	94072577		2203	4300	6503	SO:0001819	synonymous_variant	8738				apoptosis|cellular response to mechanical stimulus|induction of apoptosis via death domain receptors|signal transduction	intracellular	death domain binding|protease binding|protein binding, bridging	g.chr12:94072577C>G	U84388	CCDS9048.1	12q21.33-q23.1	2008-08-04				ENSG00000169372			2340	protein-coding gene	gene with protein product	"""RIP-associated ICH1/CED3-homologous protein with death domain"""	603454				8985253, 9044836	Standard	NM_003805		Approved	RAIDD	uc001tda.3	P78560		ENST00000542893.2:c.27C>G	12.37:g.94072577C>G						CRADD_ENST00000541813.1_Silent_p.L9L|CRADD_ENST00000552983.1_Silent_p.L9L|CRADD_ENST00000548483.1_Silent_p.L9L|CRADD_ENST00000332896.3_Silent_p.L9L|CRADD_ENST00000552033.1_Silent_p.L9L	p.L9L			P78560	CRADD_HUMAN			2	345	+			9			CARD.		B7Z2Q5	Silent	SNP	ENST00000542893.2	37	c.27C>G	CCDS9048.1																																																																																				0.488	CRADD-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408515.1	NM_003805		4	129	0	0	0	1	0	4	129				
FBXW7	55294	broad.mit.edu	37	4	153247366	153247366	+	Missense_Mutation	SNP	C	C	A			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr4:153247366C>A	ENST00000281708.4	-	10	2665	c.1436G>T	c.(1435-1437)cGa>cTa	p.R479L	FBXW7_ENST00000603841.1_Missense_Mutation_p.R479L|FBXW7_ENST00000296555.5_Missense_Mutation_p.R361L|FBXW7_ENST00000603548.1_Missense_Mutation_p.R479L|FBXW7_ENST00000393956.3_Missense_Mutation_p.R303L|FBXW7_ENST00000263981.5_Missense_Mutation_p.R399L	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase	479					cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|lipid homeostasis (GO:0055088)|lung development (GO:0030324)|negative regulation of DNA endoreduplication (GO:0032876)|negative regulation of hepatocyte proliferation (GO:2000346)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of SREBP signaling pathway (GO:2000639)|negative regulation of triglyceride biosynthetic process (GO:0010868)|Notch signaling pathway (GO:0007219)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway (GO:1903378)|positive regulation of proteasomal protein catabolic process (GO:1901800)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|regulation of cell cycle G1/S phase transition (GO:1902806)|regulation of lipid storage (GO:0010883)|regulation of protein localization (GO:0032880)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|sister chromatid cohesion (GO:0007062)|vasculature development (GO:0001944)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Parkin-FBXW7-Cul1 ubiquitin ligase complex (GO:1990452)|protein complex (GO:0043234)|SCF ubiquitin ligase complex (GO:0019005)	cyclin binding (GO:0030332)|identical protein binding (GO:0042802)|protein binding, bridging (GO:0030674)|sequence-specific DNA binding transcription factor activity (GO:0003700)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activator activity (GO:0097027)	p.R479Q(29)|p.R479L(5)|p.R399Q(3)|p.R479P(2)|p.R240L(1)|p.R361P(1)|p.R399P(1)|p.?(1)|p.R361Q(1)|p.R399L(1)|p.R240Q(1)|p.R240P(1)		NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				AGTGGCATCTCGAGAACCGCT	0.403			"""Mis, N, D, F"""		"""colorectal, endometrial, T-ALL"""																																	ENST00000281708.4				Rec	yes		4	4q31.3	55294	"""Mis, N, D, F"""	"""F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)"""			"""E, L"""			"""colorectal, endometrial, T-ALL"""		47	Substitution - Missense(46)|Unknown(1)	p.R479Q(29)|p.R479L(5)|p.R399Q(3)|p.R479P(2)|p.R240L(1)|p.R361P(1)|p.R399P(1)|p.?(1)|p.R361Q(1)|p.R399L(1)|p.R240Q(1)|p.R240P(1)	haematopoietic_and_lymphoid_tissue(16)|large_intestine(9)|endometrium(7)|urinary_tract(5)|upper_aerodigestive_tract(4)|lung(4)|stomach(1)|kidney(1)	NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462						c.(1435-1437)cGa>cTa		F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase							85.0	80.0	82.0					4																	153247366		2203	4299	6502	SO:0001583	missense	55294				interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of hepatocyte proliferation|negative regulation of Notch signaling pathway|negative regulation of triglyceride biosynthetic process|positive regulation of epidermal growth factor receptor activity|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|sister chromatid cohesion|vasculature development	nucleolus|nucleoplasm|SCF ubiquitin ligase complex	protein binding	g.chr4:153247366C>A	AF411971	CCDS3777.1, CCDS3778.1, CCDS34078.1, CCDS64082.1	4q31.23	2013-01-09	2012-02-23					"""F-boxes / WD-40 domains"", ""WD repeat domain containing"""	16712	protein-coding gene	gene with protein product	"""archipelago homolog (Drosophila)"""	606278	"""F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)"", ""F-box and WD repeat domain containing 7"""			10531037, 11425854	Standard	NM_018315		Approved	AGO, FLJ11071, SEL-10, SEL10, FBW7, FBX30, CDC4, FBXW6	uc003ims.3	Q969H0		ENST00000281708.4:c.1436G>T	4.37:g.153247366C>A	ENSP00000281708:p.Arg479Leu					FBXW7_ENST00000263981.5_Missense_Mutation_p.R399L|FBXW7_ENST00000603841.1_Missense_Mutation_p.R479L|FBXW7_ENST00000393956.3_Missense_Mutation_p.R303L|FBXW7_ENST00000603548.1_Missense_Mutation_p.R479L|FBXW7_ENST00000296555.5_Missense_Mutation_p.R361L	p.R479L	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN			10	2665	-	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)	479					B7ZLP9|Q68DR0|Q96A16|Q96LE0|Q96RI2|Q9NUX6	Missense_Mutation	SNP	ENST00000281708.4	37	c.1436G>T	CCDS3777.1	.	.	.	.	.	.	.	.	.	.	C	32	5.139058	0.94560	.	.	ENSG00000109670	ENST00000281708;ENST00000296555;ENST00000263981;ENST00000393956	T;T;T;T	0.42131	0.98;0.98;0.98;0.98	5.72	5.72	0.89469	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40 repeat, conserved site (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.48607	0.1509	N	0.08118	0	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	T	0.59789	-0.7388	10	0.87932	D	0	-12.7081	20.2406	0.98372	0.0:1.0:0.0:0.0	.	303;479;361;399	B7Z2C8;Q969H0;Q969H0-4;Q969H0-2	.;FBXW7_HUMAN;.;.	L	479;361;399;303	ENSP00000281708:R479L;ENSP00000296555:R361L;ENSP00000263981:R399L;ENSP00000377528:R303L	ENSP00000263981:R399L	R	-	2	0	FBXW7	153466816	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	7.715000	0.84713	2.857000	0.98124	0.650000	0.86243	CGA		0.403	FBXW7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000469956.1			71	44	1	0	2.94884e-30	1	3.88339e-30	71	44				
GTPBP3	84705	broad.mit.edu	37	19	17448916	17448916	+	Missense_Mutation	SNP	C	C	G			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr19:17448916C>G	ENST00000324894.8	+	2	221	c.153C>G	c.(151-153)atC>atG	p.I51M	GTPBP3_ENST00000600625.1_Missense_Mutation_p.I51M|GTPBP3_ENST00000361619.5_Missense_Mutation_p.I73M|GTPBP3_ENST00000598038.1_3'UTR|GTPBP3_ENST00000358792.7_Missense_Mutation_p.I51M	NM_032620.3|NM_133644.3	NP_116009.2|NP_598399.2	Q969Y2	GTPB3_HUMAN	GTP binding protein 3 (mitochondrial)	51					tRNA modification (GO:0006400)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(7)|skin(2)|upper_aerodigestive_tract(1)	18						TCGCAGTGATCCGGACCAGCG	0.721																																						ENST00000324894.8																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(7)|skin(2)|upper_aerodigestive_tract(1)	18						c.(151-153)atC>atG		GTP binding protein 3 (mitochondrial)							10.0	12.0	11.0					19																	17448916		2183	4256	6439	SO:0001583	missense	84705				tRNA modification	mitochondrion	GTP binding|GTPase activity	g.chr19:17448916C>G	AF360742	CCDS32950.1, CCDS32951.1, CCDS56088.1, CCDS59364.1	19p13.2	2008-02-05				ENSG00000130299			14880	protein-coding gene	gene with protein product		608536				1290633	Standard	NM_001128855		Approved	MSS1, THDF1, GTPBG3, MTGP1, FLJ14700	uc010xpo.2	Q969Y2		ENST00000324894.8:c.153C>G	19.37:g.17448916C>G	ENSP00000313818:p.Ile51Met					GTPBP3_ENST00000361619.5_Missense_Mutation_p.I73M|GTPBP3_ENST00000358792.7_Missense_Mutation_p.I51M|GTPBP3_ENST00000600625.1_Missense_Mutation_p.I51M|GTPBP3_ENST00000598038.1_3'UTR	p.I51M	NM_032620.3|NM_133644.3	NP_116009.2|NP_598399.2	Q969Y2	GTPB3_HUMAN			2	221	+			51					A6NFH1|A6NIG5|A6NKR4|A8K7B4|B7Z4V8|Q8TCY6|Q8WUW9|Q969G4|Q9BX61	Missense_Mutation	SNP	ENST00000324894.8	37	c.153C>G	CCDS32951.1	.	.	.	.	.	.	.	.	.	.	C	16.65	3.183533	0.57800	.	.	ENSG00000130299	ENST00000361619;ENST00000324894;ENST00000358792;ENST00000546035	T;T;T	0.44482	0.92;0.94;1.0	5.39	-2.51	0.06365	GTP-binding protein TrmE, N-terminal (2);	0.106075	0.64402	D	0.000004	T	0.66809	0.2827	M	0.93550	3.43	0.47094	D	0.999317	D;D;D;D	0.89917	1.0;1.0;1.0;0.999	D;D;D;D	0.81914	0.989;0.995;0.991;0.982	T	0.72991	-0.4123	10	0.87932	D	0	-27.9025	11.2166	0.48830	0.0:0.5402:0.0:0.4598	.	73;51;51;51	A6NIG5;Q969Y2;Q969Y2-3;Q969Y2-2	.;GTPB3_HUMAN;.;.	M	73;51;51;51	ENSP00000354598:I73M;ENSP00000313818:I51M;ENSP00000351644:I51M	ENSP00000313818:I51M	I	+	3	3	GTPBP3	17309916	0.099000	0.21834	0.989000	0.46669	0.261000	0.26267	-0.562000	0.05950	-0.188000	0.10499	0.484000	0.47621	ATC		0.721	GTPBP3-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463624.1	NM_032620		11	41	0	0	0	1	0	11	41				
CACNA1C	775	broad.mit.edu	37	12	2797877	2797877	+	Missense_Mutation	SNP	A	A	G			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr12:2797877A>G	ENST00000347598.4	+	48	6193	c.6193A>G	c.(6193-6195)Atg>Gtg	p.M2065V	CACNA1C_ENST00000399595.1_Missense_Mutation_p.M2025V|CACNA1C_ENST00000399655.1_Missense_Mutation_p.M2017V|CACNA1C_ENST00000335762.5_Missense_Mutation_p.M2042V|CACNA1C_ENST00000399649.1_Missense_Mutation_p.M2023V|CACNA1C_ENST00000344100.3_Missense_Mutation_p.M2058V|CACNA1C_ENST00000399629.1_Missense_Mutation_p.M2034V|CACNA1C_ENST00000399634.1_Missense_Mutation_p.M2088V|CACNA1C_ENST00000402845.3_Missense_Mutation_p.M2036V|CACNA1C_ENST00000399591.1_Missense_Mutation_p.M2025V|CACNA1C-AS1_ENST00000541673.1_RNA|CACNA1C_ENST00000327702.7_Missense_Mutation_p.M2052V|CACNA1C-AS1_ENST00000544517.1_RNA|CACNA1C_ENST00000399606.1_Missense_Mutation_p.M2037V|CACNA1C_ENST00000399621.1_Missense_Mutation_p.M2036V|CACNA1C-AS1_ENST00000501371.1_RNA|CACNA1C_ENST00000399638.1_Missense_Mutation_p.M2045V|CACNA1C_ENST00000399641.1_Missense_Mutation_p.M2017V|CACNA1C_ENST00000399603.1_Missense_Mutation_p.M2017V|CACNA1C_ENST00000399644.1_Missense_Mutation_p.M2017V|CACNA1C_ENST00000399601.1_Missense_Mutation_p.M2017V|CACNA1C_ENST00000399617.1_Missense_Mutation_p.M2052V|CACNA1C_ENST00000399637.1_Missense_Mutation_p.M2036V|CACNA1C_ENST00000399597.1_Missense_Mutation_p.M2017V|CACNA1C_ENST00000406454.3_Missense_Mutation_p.M2088V	NM_001129827.1|NM_199460.2	NP_001123299.1|NP_955630.2	Q13936	CAC1C_HUMAN	calcium channel, voltage-dependent, L type, alpha 1C subunit	2100					adult walking behavior (GO:0007628)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transport into cytosol (GO:0060402)|calcium ion-dependent exocytosis (GO:0017156)|calcium-mediated signaling using extracellular calcium source (GO:0035585)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|energy reserve metabolic process (GO:0006112)|glucose homeostasis (GO:0042593)|growth hormone secretion (GO:0030252)|insulin secretion (GO:0030073)|membrane depolarization during action potential (GO:0086010)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|regulation of blood pressure (GO:0008217)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of insulin secretion (GO:0050796)|regulation of organ growth (GO:0046620)|regulation of vasoconstriction (GO:0019229)|small molecule metabolic process (GO:0044281)|smooth muscle contraction involved in micturition (GO:0060083)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	caveolar macromolecular signaling complex (GO:0002095)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|voltage-gated calcium channel complex (GO:0005891)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|calmodulin binding (GO:0005516)|high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132			OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Drotaverine(DB06751)|Felodipine(DB01023)|Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nicardipine(DB00622)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	CGTCTCCCTCATGGTGCCCAG	0.711																																						ENST00000399655.1																			0				NS(3)|breast(4)|central_nervous_system(4)|cervix(2)|endometrium(12)|kidney(9)|large_intestine(20)|lung(55)|ovary(10)|pancreas(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(4)	132						c.(6049-6051)Atg>Gtg		calcium channel, voltage-dependent, L type, alpha 1C subunit	Ibutilide(DB00308)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Mibefradil(DB01388)|Nicardipine(DB00622)|Verapamil(DB00661)						12.0	14.0	14.0					12																	2797877		1918	4088	6006	SO:0001583	missense	775				axon guidance|calcium ion transport into cytosol|energy reserve metabolic process|regulation of insulin secretion	cytoplasm|postsynaptic density|voltage-gated calcium channel complex	calmodulin binding|voltage-gated calcium channel activity	g.chr12:2797877A>G	AF070589	CCDS44787.1, CCDS44788.1, CCDS44789.1, CCDS44790.1, CCDS44791.1, CCDS44792.1, CCDS44793.1, CCDS44794.1, CCDS44795.1, CCDS44796.1, CCDS44797.1, CCDS44798.1, CCDS44799.1, CCDS44800.1, CCDS44801.1, CCDS53733.1, CCDS53734.1, CCDS53735.1, CCDS53736.1	12p13.3	2014-09-17			ENSG00000151067	ENSG00000151067		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1390	protein-coding gene	gene with protein product		114205		CCHL1A1, CACNL1A1		1650913, 16382099	Standard	NM_001129832		Approved	Cav1.2, CACH2, CACN2, TS, LQT8	uc001qjy.3	Q13936	OTTHUMG00000150243	ENST00000347598.4:c.6193A>G	12.37:g.2797877A>G	ENSP00000266376:p.Met2065Val					CACNA1C_ENST00000399617.1_Missense_Mutation_p.M2052V|CACNA1C_ENST00000399649.1_Missense_Mutation_p.M2023V|CACNA1C_ENST00000399638.1_Missense_Mutation_p.M2045V|CACNA1C_ENST00000399606.1_Missense_Mutation_p.M2037V|CACNA1C_ENST00000344100.3_Missense_Mutation_p.M2058V|CACNA1C_ENST00000399591.1_Missense_Mutation_p.M2025V|CACNA1C_ENST00000399597.1_Missense_Mutation_p.M2017V|CACNA1C_ENST00000399634.1_Missense_Mutation_p.M2088V|CACNA1C_ENST00000399637.1_Missense_Mutation_p.M2036V|CACNA1C_ENST00000406454.3_Missense_Mutation_p.M2088V|CACNA1C_ENST00000402845.3_Missense_Mutation_p.M2036V|CACNA1C_ENST00000399603.1_Missense_Mutation_p.M2017V|CACNA1C_ENST00000399601.1_Missense_Mutation_p.M2017V|CACNA1C_ENST00000399641.1_Missense_Mutation_p.M2017V|CACNA1C-AS1_ENST00000501371.1_RNA|CACNA1C_ENST00000327702.7_Missense_Mutation_p.M2052V|CACNA1C_ENST00000399629.1_Missense_Mutation_p.M2034V|CACNA1C_ENST00000399621.1_Missense_Mutation_p.M2036V|CACNA1C_ENST00000399644.1_Missense_Mutation_p.M2017V|CACNA1C_ENST00000335762.5_Missense_Mutation_p.M2042V|CACNA1C_ENST00000399595.1_Missense_Mutation_p.M2025V|CACNA1C_ENST00000347598.4_Missense_Mutation_p.M2065V	p.M2017V	NM_000719.6|NM_001129829.1|NM_001129834.1	NP_000710.5|NP_001123301.1|NP_001123306.1	Q13936	CAC1C_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00256)	LUAD - Lung adenocarcinoma(1;0.134)	46	6314	+			2100					B2RUT3|E9PDJ0|Q13917|Q13918|Q13919|Q13920|Q13921|Q13922|Q13923|Q13924|Q13925|Q13926|Q13927|Q13928|Q13929|Q13930|Q13932|Q13933|Q14743|Q14744|Q15877|Q4VMI7|Q4VMI8|Q4VMI9|Q6PKM7|Q8N6C0|Q99025|Q99241|Q99875	Missense_Mutation	SNP	ENST00000347598.4	37	c.6049A>G	CCDS44788.1	.	.	.	.	.	.	.	.	.	.	A	10.80	1.452036	0.26074	.	.	ENSG00000151067	ENST00000335762;ENST00000399655;ENST00000399644;ENST00000399638;ENST00000399597;ENST00000399621;ENST00000399637;ENST00000399591;ENST00000399641;ENST00000347598;ENST00000399606;ENST00000399601;ENST00000344100;ENST00000399629;ENST00000327702;ENST00000399649;ENST00000402845;ENST00000399603;ENST00000399634;ENST00000399617;ENST00000406454;ENST00000399595;ENST00000322367	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.61742	0.08;0.08;0.08;0.08;0.08;0.08;0.08;0.08;0.08;0.08;0.08;0.08;0.08;0.08;0.08;0.08;0.08;0.08;0.08;0.08;0.08;0.08	5.21	5.21	0.72293	.	0.313455	0.29908	N	0.010894	T	0.39118	0.1066	N	0.08118	0	0.28047	N	0.933512	B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B	0.10296	0.0;0.003;0.0;0.0;0.002;0.002;0.0;0.002;0.0;0.0;0.0;0.0;0.0;0.002;0.0;0.001;0.0;0.001;0.003;0.0;0.0;0.0;0.003;0.0;0.0	B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B;B	0.13407	0.004;0.007;0.0;0.0;0.007;0.007;0.0;0.007;0.009;0.0;0.0;0.0;0.003;0.007;0.0;0.003;0.003;0.005;0.004;0.001;0.0;0.005;0.004;0.0;0.0	T	0.30090	-0.9990	10	0.38643	T	0.18	.	15.0859	0.72151	1.0:0.0:0.0:0.0	.	708;2058;2014;2100;2052;2036;2017;2034;2045;2017;2037;2017;2048;2065;2017;2052;2088;2025;2023;2025;2006;2036;2036;2017;2017	B7Z7Z5;Q13936-14;Q13936-35;Q13936;Q13936-33;Q13936-13;Q13936-22;Q13936-32;Q13936-31;Q13936-21;Q13936-30;Q13936-23;Q13936-28;Q13936-11;E9PDJ1;E9PDJ0;F5GY28;Q13936-25;Q13936-15;Q13936-29;Q13936-19;Q13936-24;Q13936-27;Q13936-20;Q13936-12	.;.;.;CAC1C_HUMAN;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.;.	V	2042;2017;2017;2045;2017;2036;2036;2025;2017;2065;2037;2017;2058;2034;2052;2023;2036;2017;2088;2052;2088;2025;1918	ENSP00000336982:M2042V;ENSP00000382563:M2017V;ENSP00000382552:M2017V;ENSP00000382547:M2045V;ENSP00000382506:M2017V;ENSP00000382530:M2036V;ENSP00000382546:M2036V;ENSP00000382500:M2025V;ENSP00000382549:M2017V;ENSP00000266376:M2065V;ENSP00000382515:M2037V;ENSP00000382510:M2017V;ENSP00000341092:M2058V;ENSP00000382537:M2034V;ENSP00000329877:M2052V;ENSP00000382557:M2023V;ENSP00000385724:M2036V;ENSP00000382512:M2017V;ENSP00000382542:M2088V;ENSP00000382526:M2052V;ENSP00000385896:M2088V;ENSP00000382504:M2025V	ENSP00000323129:M1918V	M	+	1	0	CACNA1C	2668138	1.000000	0.71417	1.000000	0.80357	0.280000	0.26924	6.754000	0.74909	1.966000	0.57179	0.379000	0.24179	ATG		0.711	CACNA1C-017	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317035.1	NM_000719		35	60	0	0	0	1	0	35	60				
LRIT1	26103	broad.mit.edu	37	10	86001139	86001139	+	Silent	SNP	G	G	T			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr10:86001139G>T	ENST00000372105.3	-	1	78	c.57C>A	c.(55-57)gcC>gcA	p.A19A		NM_015613.2	NP_056428.1	Q9P2V4	LRIT1_HUMAN	leucine-rich repeat, immunoglobulin-like and transmembrane domains 1	19						integral component of endoplasmic reticulum membrane (GO:0030176)				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|skin(1)	23						AGAAGCCCCGGGCCTGGGGGG	0.672																																						ENST00000372105.3																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|skin(1)	23						c.(55-57)gcC>gcA		leucine-rich repeat, immunoglobulin-like and transmembrane domains 1							18.0	21.0	20.0					10																	86001139		2196	4290	6486	SO:0001819	synonymous_variant	26103					integral to endoplasmic reticulum membrane		g.chr10:86001139G>T	AB031547	CCDS7373.1	10q23	2013-02-11	2007-06-19	2007-06-19	ENSG00000148602	ENSG00000148602		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	23404	protein-coding gene	gene with protein product	"""fibronectin type III, immunoglobulin and leucine rich repeat domains 9"""		"""leucine rich repeat containing 21"""	LRRC21		10777785	Standard	NM_015613		Approved	PAL, DKFZP434K091, FIGLER9	uc001kcz.1	Q9P2V4	OTTHUMG00000018632	ENST00000372105.3:c.57C>A	10.37:g.86001139G>T							p.A19A	NM_015613.2	NP_056428.1	Q9P2V4	LRIT1_HUMAN			1	78	-			19					Q0QD41|Q9Y4N7	Silent	SNP	ENST00000372105.3	37	c.57C>A	CCDS7373.1																																																																																				0.672	LRIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049109.1	NM_015613		21	51	1	0	2.37509e-13	1	2.71802e-13	21	51				
SLCO2A1	6578	broad.mit.edu	37	3	133672526	133672526	+	Missense_Mutation	SNP	G	G	T			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr3:133672526G>T	ENST00000310926.4	-	5	978	c.705C>A	c.(703-705)gaC>gaA	p.D235E	SLCO2A1_ENST00000478651.1_5'Flank|SLCO2A1_ENST00000493729.1_Missense_Mutation_p.D159E	NM_005630.2	NP_005621.2	Q92959	SO2A1_HUMAN	solute carrier organic anion transporter family, member 2A1	235					lipid transport (GO:0006869)|sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	lipid transporter activity (GO:0005319)|prostaglandin transmembrane transporter activity (GO:0015132)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(2)|stomach(2)	30					Alprostadil(DB00770)|Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Furosemide(DB00695)|Iloprost(DB01088)|Phenobarbital(DB01174)|Pyruvic acid(DB00119)	CCCTGCCATAGTCCACAAAGA	0.527																																						ENST00000310926.4																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(2)|stomach(2)	30						c.(703-705)gaC>gaA		solute carrier organic anion transporter family, member 2A1							91.0	86.0	88.0					3																	133672526		2203	4300	6503	SO:0001583	missense	6578				sodium-independent organic anion transport	integral to plasma membrane|membrane fraction	prostaglandin transmembrane transporter activity|protein binding	g.chr3:133672526G>T		CCDS3084.1	3q21	2013-05-22	2003-11-25	2003-11-26	ENSG00000174640	ENSG00000174640		"""Solute carriers"""	10955	protein-coding gene	gene with protein product		601460	"""solute carrier family 21 (prostaglandin transporter), member 2"", ""matrin F/G 1"""	SLC21A2, MATR1		8787677, 9618293	Standard	NM_005630		Approved	PGT, OATP2A1	uc003eqa.4	Q92959	OTTHUMG00000159745	ENST00000310926.4:c.705C>A	3.37:g.133672526G>T	ENSP00000311291:p.Asp235Glu					SLCO2A1_ENST00000493729.1_Missense_Mutation_p.D159E	p.D235E	NM_005630.2	NP_005621.2	Q92959	SO2A1_HUMAN			5	978	-			235					Q86V98|Q8IUN2	Missense_Mutation	SNP	ENST00000310926.4	37	c.705C>A	CCDS3084.1	.	.	.	.	.	.	.	.	.	.	G	14.43	2.532233	0.45073	.	.	ENSG00000174640	ENST00000310926;ENST00000493729	T;T	0.49432	0.78;0.78	5.4	4.52	0.55395	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	T	0.69351	0.3101	M	0.82323	2.585	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.992;0.998;0.991	T	0.74009	-0.3802	10	0.87932	D	0	.	12.7471	0.57287	0.1344:0.0:0.8656:0.0	.	235;159;235	F8W9W8;E7EU40;Q92959	.;.;SO2A1_HUMAN	E	235;159	ENSP00000311291:D235E;ENSP00000418893:D159E	ENSP00000311291:D235E	D	-	3	2	SLCO2A1	135155216	1.000000	0.71417	1.000000	0.80357	0.563000	0.35712	1.353000	0.34045	2.526000	0.85167	0.561000	0.74099	GAC		0.527	SLCO2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357131.1	NM_005630		24	94	1	0	1.64293e-13	1	1.88519e-13	24	94				
PDS5A	23244	broad.mit.edu	37	4	39921964	39921964	+	Missense_Mutation	SNP	T	T	C			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr4:39921964T>C	ENST00000303538.8	-	7	1249	c.710A>G	c.(709-711)cAg>cGg	p.Q237R	PDS5A_ENST00000503396.1_Missense_Mutation_p.Q237R	NM_001100399.1	NP_001093869.1			PDS5, regulator of cohesion maintenance, homolog A (S. cerevisiae)											breast(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(9)|lung(14)|prostate(3)|skin(1)|urinary_tract(1)	39						CTCAATAGTCTGGACTGTTCT	0.259																																						ENST00000303538.8																			0				breast(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(9)|lung(14)|prostate(3)|skin(1)|urinary_tract(1)	39						c.(709-711)cAg>cGg		PDS5, regulator of cohesion maintenance, homolog A (S. cerevisiae)							86.0	83.0	84.0					4																	39921964		1808	4057	5865	SO:0001583	missense	23244				cell division|mitosis|negative regulation of DNA replication	chromatin|nucleus	identical protein binding	g.chr4:39921964T>C	AF294791	CCDS47045.1, CCDS54759.1	4p14	2007-06-20			ENSG00000121892	ENSG00000121892			29088	protein-coding gene	gene with protein product		613200				11076961, 15855230	Standard	NM_001100399		Approved	KIAA0648, PIG54, SCC-112	uc003guv.4	Q29RF7	OTTHUMG00000160582	ENST00000303538.8:c.710A>G	4.37:g.39921964T>C	ENSP00000303427:p.Gln237Arg					PDS5A_ENST00000503396.1_Missense_Mutation_p.Q237R	p.Q237R	NM_001100399.1	NP_001093869.1	Q29RF7	PDS5A_HUMAN			7	1249	-			237						Missense_Mutation	SNP	ENST00000303538.8	37	c.710A>G	CCDS47045.1	.	.	.	.	.	.	.	.	.	.	T	16.02	3.003289	0.54254	.	.	ENSG00000121892	ENST00000303538;ENST00000503396	.	.	.	5.47	5.47	0.80525	Armadillo-like helical (1);Armadillo-type fold (1);	0.132413	0.53938	D	0.000060	T	0.73257	0.3564	L	0.50919	1.6	0.54753	D	0.999985	B;D	0.65815	0.001;0.995	B;D	0.68483	0.005;0.958	T	0.72510	-0.4271	8	.	.	.	-0.7924	15.5947	0.76569	0.0:0.0:0.0:1.0	.	237;237	Q29RF7-3;Q29RF7	.;PDS5A_HUMAN	R	237	.	.	Q	-	2	0	PDS5A	39598359	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.698000	0.84413	2.082000	0.62665	0.524000	0.50904	CAG		0.259	PDS5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361287.1	NM_015200		13	72	0	0	0	1	0	13	72				
SLC22A1	6580	broad.mit.edu	37	6	160557646	160557646	+	Missense_Mutation	SNP	G	G	A	rs34205214	byFrequency	TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr6:160557646G>A	ENST00000366963.4	+	6	1172	c.1025G>A	c.(1024-1026)cGc>cAc	p.R342H	SLC22A1_ENST00000324965.4_Missense_Mutation_p.R342H|SLC22A1_ENST00000457470.2_Missense_Mutation_p.R342H	NM_003057.2|NM_153187.1	NP_003048.1|NP_694857.1	O15245	S22A1_HUMAN	solute carrier family 22 (organic cation transporter), member 1	342			R -> H (no changes in the MPP uptake; when associated with V-408; dbSNP:rs34205214). {ECO:0000269|PubMed:12719534}.		dopamine transport (GO:0015872)|drug transmembrane transport (GO:0006855)|epinephrine transport (GO:0048241)|establishment or maintenance of transmembrane electrochemical gradient (GO:0010248)|norepinephrine transport (GO:0015874)|organic cation transport (GO:0015695)|protein homooligomerization (GO:0051260)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	acetylcholine transmembrane transporter activity (GO:0005277)|dopamine transmembrane transporter activity (GO:0005329)|norepinephrine transmembrane transporter activity (GO:0005333)|organic cation transmembrane transporter activity (GO:0015101)|quaternary ammonium group transmembrane transporter activity (GO:0015651)|secondary active organic cation transmembrane transporter activity (GO:0008513)	p.R342H(1)	SLC22A1/CUTA(2)	breast(1)|endometrium(3)|large_intestine(3)|lung(13)|upper_aerodigestive_tract(1)	21		Breast(66;0.000776)|Ovarian(120;0.00556)		OV - Ovarian serous cystadenocarcinoma(65;2.73e-17)|BRCA - Breast invasive adenocarcinoma(81;1.1e-06)	Acebutolol(DB01193)|Acepromazine(DB01614)|Aciclovir(DB00787)|Amantadine(DB00915)|Amiloride(DB00594)|Aminohippurate(DB00345)|Caspofungin(DB00520)|Chlorphenamine(DB01114)|Chlorpromazine(DB00477)|Choline(DB00122)|Cimetidine(DB00501)|Cladribine(DB00242)|Clonidine(DB00575)|Codeine(DB00318)|Cytarabine(DB00987)|Desipramine(DB01151)|Dinoprostone(DB00917)|Diphenhydramine(DB01075)|Disopyramide(DB00280)|Dopamine(DB00988)|Epinephrine(DB00668)|Estradiol(DB00783)|Estropipate(DB04574)|Ganciclovir(DB01004)|Gentian Violet(DB00406)|Guanidine(DB00536)|Histamine Phosphate(DB00667)|Imatinib(DB00619)|Imipramine(DB00458)|Indinavir(DB00224)|Lamivudine(DB00709)|Latanoprost(DB00654)|Metformin(DB00331)|Midazolam(DB00683)|Nelfinavir(DB00220)|Nicotine(DB00184)|Norepinephrine(DB00368)|Oxaliplatin(DB00526)|Pancuronium(DB01337)|Phenformin(DB00914)|Phenoxybenzamine(DB00925)|Pipotiazine(DB01621)|Pramipexole(DB00413)|Prazosin(DB00457)|Probenecid(DB01032)|Procainamide(DB01035)|Progesterone(DB00396)|Quinidine(DB00908)|Quinine(DB00468)|Ranitidine(DB00863)|Reserpine(DB00206)|Rocuronium(DB00728)|Saquinavir(DB01232)|Spermine(DB00127)|Testosterone(DB00624)|Thiamine(DB00152)|Thioproperazine(DB01622)|Thiothixene(DB01623)|Tubocurarine(DB01199)|Vecuronium(DB01339)|Verapamil(DB00661)	CGCACGCCGCGCCTGAGGAAG	0.587													G|||	22	0.00439297	0.0151	0.0	5008	,	,		19360	0.0		0.001	False		,,,				2504	0.001					ENST00000366963.4																		SLC22A1/CUTA(2)	1	Substitution - Missense(1)	p.R342H(1)	endometrium(1)	breast(1)|endometrium(3)|large_intestine(3)|lung(13)|upper_aerodigestive_tract(1)	21						c.(1024-1026)cGc>cAc		solute carrier family 22 (organic cation transporter), member 1		G	HIS/ARG,HIS/ARG	86,4320	73.1+/-111.1	2,82,2119	150.0	122.0	132.0		1025,1025	-4.2	0.1	6	dbSNP_126	132	3,8597	3.0+/-9.4	0,3,4297	yes	missense,missense	SLC22A1	NM_003057.2,NM_153187.1	29,29	2,85,6416	AA,AG,GG		0.0349,1.9519,0.6843	benign,benign	342/555,342/507	160557646	89,12917	2203	4300	6503	SO:0001583	missense	6580					basolateral plasma membrane|integral to plasma membrane|membrane fraction	organic cation transmembrane transporter activity|protein binding	g.chr6:160557646G>A	U77086	CCDS5274.1, CCDS5275.1	6q25.3	2013-05-22			ENSG00000175003	ENSG00000175003		"""Solute carriers"""	10963	protein-coding gene	gene with protein product		602607				9605850	Standard	NM_003057		Approved	OCT1	uc003qtc.3	O15245	OTTHUMG00000015947	ENST00000366963.4:c.1025G>A	6.37:g.160557646G>A	ENSP00000355930:p.Arg342His					SLC22A1_ENST00000457470.2_Missense_Mutation_p.R342H|SLC22A1_ENST00000324965.4_Missense_Mutation_p.R342H	p.R342H	NM_003057.2|NM_153187.1	NP_003048.1|NP_694857.1	O15245	S22A1_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.73e-17)|BRCA - Breast invasive adenocarcinoma(81;1.1e-06)	6	1172	+		Breast(66;0.000776)|Ovarian(120;0.00556)	342		R -> H (no changes in the MPP uptake; when associated with V-408; dbSNP:rs34205214).			A6NFF3|A8K1H2|C9JSU6|O15395|Q9NQD4	Missense_Mutation	SNP	ENST00000366963.4	37	c.1025G>A	CCDS5274.1	8	0.003663003663003663	7	0.014227642276422764	0	0.0	0	0.0	1	0.0013192612137203166	G	8.825	0.938469	0.18206	0.019519	3.49E-4	ENSG00000175003	ENST00000366963;ENST00000324965;ENST00000457470	T;T;T	0.74209	-0.82;-0.82;-0.82	4.56	-4.19	0.03835	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.790141	0.11562	N	0.551611	T	0.34337	0.0894	L	0.38692	1.165	0.09310	N	1	B;B	0.17667	0.023;0.017	B;B	0.18561	0.008;0.022	T	0.23154	-1.0196	10	0.54805	T	0.06	.	1.7215	0.02912	0.5295:0.1243:0.225:0.1212	rs34205214;rs45619035;rs59079934	342;342	O15245-2;O15245	.;S22A1_HUMAN	H	342	ENSP00000355930:R342H;ENSP00000318103:R342H;ENSP00000409557:R342H	ENSP00000318103:R342H	R	+	2	0	SLC22A1	160477636	0.000000	0.05858	0.052000	0.19188	0.034000	0.12701	0.020000	0.13466	-1.047000	0.03242	0.561000	0.74099	CGC		0.587	SLC22A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042938.2			118	169	0	0	0	1	0	118	169				
TRGV2	6974	broad.mit.edu	37	7	38402500	38402500	+	RNA	SNP	C	C	A			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr7:38402500C>A	ENST00000426402.2	-	0	508									T cell receptor gamma variable 2																		ACCCCAAAGTCATTTTCAATT	0.463																																						ENST00000426402.2																			0																				92.0	85.0	87.0					7																	38402500		1891	4112	6003			6974							g.chr7:38402500C>A	M13429		7p14	2012-02-07			ENSG00000233306	ENSG00000233306		"""T cell receptors / TRG locus"""	12287	other	T cell receptor gene	"""T-cell receptor, gamma, variable region V2"""			TCRGV2		2938743, 2969332	Standard	NG_001336		Approved	VIS2			OTTHUMG00000155105		7.37:g.38402500C>A														0	508	-									RNA	SNP	ENST00000426402.2	37																																																																																						0.463	TRGV2-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	TR_V_gene	TR_V_gene	OTTHUMT00000338419.4	NG_001336		37	78	1	0	2.26627e-22	1	2.83616e-22	37	78				
PCDHGA7	56108	broad.mit.edu	37	5	140762628	140762628	+	Silent	SNP	G	G	T			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr5:140762628G>T	ENST00000518325.1	+	1	162	c.162G>T	c.(160-162)ctG>ctT	p.L54L	PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA3_ENST00000253812.6_Intron	NM_018920.2	NP_061743.1	Q9Y5G6	PCDG7_HUMAN	protocadherin gamma subfamily A, 7	54	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|biliary_tract(1)|endometrium(8)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|skin(1)|stomach(3)|urinary_tract(1)	49			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			ACCTGGGGCTGGAGCCCCGGG	0.652																																						ENST00000518325.1																			0				NS(1)|biliary_tract(1)|endometrium(8)|kidney(4)|large_intestine(10)|lung(19)|ovary(1)|skin(1)|stomach(3)|urinary_tract(1)	49						c.(160-162)ctG>ctT									41.0	50.0	47.0					5																	140762628		2115	4280	6395	SO:0001819	synonymous_variant	56108							g.chr5:140762628G>T	AF152514	CCDS54927.1, CCDS75336.1	5q31	2010-01-26				ENSG00000253537		"""Cadherins / Protocadherins : Clustered"""	8705	other	protocadherin		606294				10380929	Standard	NM_018920		Approved	PCDH-GAMMA-A7		Q9Y5G6		ENST00000518325.1:c.162G>T	5.37:g.140762628G>T						PCDHGA2_ENST00000394576.2_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGB1_ENST00000523390.1_Intron	p.L54L	NM_018920.2	NP_061743.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	162	+								B2RN87|Q9Y5D0	Silent	SNP	ENST00000518325.1	37	c.162G>T	CCDS54927.1																																																																																				0.652	PCDHGA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374744.1	NM_018920		124	119	1	0	4.22328e-53	1	6.06564e-53	124	119				
IGHG1	3500	broad.mit.edu	37	14	106208539	106208539	+	RNA	SNP	G	G	T			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr14:106208539G>T	ENST00000390548.2	-	0	360							P01857	IGHG1_HUMAN	immunoglobulin heavy constant gamma 1 (G1m marker)						complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	antigen binding (GO:0003823)										AAGACTGACGGTCCCCCCAGG	0.627																																						ENST00000390548.2																			0																				63.0	63.0	63.0					14																	106208539		2020	4169	6189			3500							g.chr14:106208539G>T	J00228		14q32.33	2012-10-02			ENSG00000211896	ENSG00000211896		"""Immunoglobulins / IGH locus"""	5525	other	immunoglobulin gene		147100					Standard	NG_001019		Approved		uc001yse.3	P01857	OTTHUMG00000152495		14.37:g.106208539G>T														0	360	-									RNA	SNP	ENST00000390548.2	37																																																																																						0.627	IGHG1-002	KNOWN	mRNA_start_NF|cds_start_NF|basic|appris_candidate_longest	IG_C_gene	IG_C_gene	OTTHUMT00000326504.1	NG_001019		103	151	1	0	5.71645e-57	1	8.35031e-57	103	151				
RP11-423O2.5	0	broad.mit.edu	37	1	142803783	142803783	+	lincRNA	SNP	A	A	T	rs201409729		TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr1:142803783A>T	ENST00000423385.1	-	0	1182																											atagttaacaaagtagctggc	0.403																																						ENST00000423385.1																			0																																																			0							g.chr1:142803783A>T																													1.37:g.142803783A>T														0	1182	-									RNA	SNP	ENST00000423385.1	37																																																																																						0.403	RP11-423O2.5-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000193203.1			3	10	0	0	0	1	0	3	10				
MPDZ	8777	broad.mit.edu	37	9	13188969	13188969	+	Silent	SNP	A	A	C			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr9:13188969A>C	ENST00000319217.7	-	17	2425	c.2178T>G	c.(2176-2178)acT>acG	p.T726T	MPDZ_ENST00000541718.1_Silent_p.T726T|MPDZ_ENST00000381022.2_Silent_p.T726T|MPDZ_ENST00000546205.1_Silent_p.T726T|MPDZ_ENST00000381015.4_Silent_p.T726T|MPDZ_ENST00000536827.1_Silent_p.T726T|MPDZ_ENST00000447879.1_Silent_p.T726T	NM_001261406.1	NP_001248335.1	O75970	MPDZ_HUMAN	multiple PDZ domain protein	726	PDZ 5. {ECO:0000255|PROSITE- ProRule:PRU00143}.				cell adhesion (GO:0007155)|myelination (GO:0042552)|viral process (GO:0016032)	apical plasma membrane (GO:0016324)|apicolateral plasma membrane (GO:0016327)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|neuron projection (GO:0043005)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)|tight junction (GO:0005923)	protein C-terminus binding (GO:0008022)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(15)|ovary(5)|prostate(7)|stomach(1)|urinary_tract(2)	61				GBM - Glioblastoma multiforme(50;2.03e-06)		TTATAATCACAGTGCTTGCTG	0.428																																						ENST00000319217.7																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(15)|ovary(5)|prostate(7)|stomach(1)|urinary_tract(2)	61						c.(2176-2178)acT>acG		multiple PDZ domain protein							56.0	56.0	56.0					9																	13188969		1980	4165	6145	SO:0001819	synonymous_variant	8777				interspecies interaction between organisms	apical plasma membrane|dendrite|postsynaptic density|postsynaptic membrane|synaptosome|tight junction	protein C-terminus binding	g.chr9:13188969A>C	AF093419	CCDS47951.1, CCDS59119.1, CCDS59120.1	9p23	2008-05-15			ENSG00000107186	ENSG00000107186			7208	protein-coding gene	gene with protein product		603785					Standard	NM_003829		Approved	MUPP1	uc003zlb.4	O75970	OTTHUMG00000021031	ENST00000319217.7:c.2178T>G	9.37:g.13188969A>C						MPDZ_ENST00000541718.1_Silent_p.T726T|MPDZ_ENST00000536827.1_Silent_p.T726T|MPDZ_ENST00000381022.2_Silent_p.T726T|MPDZ_ENST00000546205.1_Silent_p.T726T|MPDZ_ENST00000381015.4_Silent_p.T726T|MPDZ_ENST00000447879.1_Silent_p.T726T	p.T726T	NM_001261406.1	NP_001248335.1	O75970	MPDZ_HUMAN		GBM - Glioblastoma multiforme(50;2.03e-06)	17	2425	-			726			PDZ 5.		A6NLC2|B2RTS3|B7ZMI4|O43798|Q4LE30|Q5CZ80|Q5JTX3|Q5JTX6|Q5JTX7|Q5JUC3|Q5JUC4|Q5VZ62|Q8N790	Silent	SNP	ENST00000319217.7	37	c.2178T>G																																																																																					0.428	MPDZ-001	KNOWN	not_organism_supported|basic	protein_coding	protein_coding	OTTHUMT00000055485.2	NM_003829		32	51	0	0	0	1	0	32	51				
USP29	57663	broad.mit.edu	37	19	57640564	57640564	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr19:57640564C>A	ENST00000254181.4	+	4	975	c.521C>A	c.(520-522)tCa>tAa	p.S174*	USP29_ENST00000598197.1_Nonsense_Mutation_p.S174*	NM_020903.2	NP_065954.1	Q9HBJ7	UBP29_HUMAN	ubiquitin specific peptidase 29	174					ubiquitin-dependent protein catabolic process (GO:0006511)		cysteine-type peptidase activity (GO:0008234)|ubiquitin thiolesterase activity (GO:0004221)			breast(3)|endometrium(4)|kidney(3)|large_intestine(15)|lung(47)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	85		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)		AACACACTATCATCTGATGTA	0.363																																						ENST00000254181.4																			0				breast(3)|endometrium(4)|kidney(3)|large_intestine(15)|lung(47)|ovary(2)|pancreas(1)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	85						c.(520-522)tCa>tAa		ubiquitin specific peptidase 29							101.0	101.0	101.0					19																	57640564		2203	4300	6503	SO:0001587	stop_gained	57663				protein modification process|ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|protein binding|ubiquitin thiolesterase activity	g.chr19:57640564C>A		CCDS33124.1	19q13.4	2008-06-23	2005-08-08			ENSG00000131864		"""Ubiquitin-specific peptidases"""	18563	protein-coding gene	gene with protein product		609546	"""ubiquitin specific protease 29"""			12838346	Standard	NM_020903		Approved		uc002qny.3	Q9HBJ7		ENST00000254181.4:c.521C>A	19.37:g.57640564C>A	ENSP00000254181:p.Ser174*					USP29_ENST00000598197.1_Nonsense_Mutation_p.S174*	p.S174*	NM_020903.2	NP_065954.1	Q9HBJ7	UBP29_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)	4	975	+		Colorectal(82;5.46e-05)|all_neural(62;0.0218)|Ovarian(87;0.0822)|Renal(1328;0.157)	174						Nonsense_Mutation	SNP	ENST00000254181.4	37	c.521C>A	CCDS33124.1	.	.	.	.	.	.	.	.	.	.	C	31	5.100169	0.94245	.	.	ENSG00000131864	ENST00000254181	.	.	.	2.16	-0.198	0.13224	.	1.007360	0.08010	U	0.990221	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-0.7967	3.2421	0.06784	0.0:0.5446:0.2805:0.1749	.	.	.	.	X	174	.	ENSP00000254181:S174X	S	+	2	0	USP29	62332376	0.002000	0.14202	0.000000	0.03702	0.002000	0.02628	1.741000	0.38238	0.006000	0.14734	0.591000	0.81541	TCA		0.363	USP29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465075.1			28	235	1	0	3.73808e-20	1	4.66443e-20	28	235				
IGLV2-28	28812	broad.mit.edu	37	22	23006961	23006961	+	RNA	SNP	C	C	T	rs200228350	byFrequency	TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr22:23006961C>T	ENST00000385099.1	+	0	64																											GGCTCTGCTCCTCCTCACCCT	0.627																																						ENST00000385099.1																			0																																																			28812							g.chr22:23006961C>T																													22.37:g.23006961C>T														0	64	+									RNA	SNP	ENST00000385099.1	37																																																																																						0.627	D86994.2-201	NOVEL	basic	miRNA	miRNA				3	37	0	0	0	1	0	3	37				
TTC21B	79809	broad.mit.edu	37	2	166744890	166744890	+	Missense_Mutation	SNP	C	C	G			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr2:166744890C>G	ENST00000243344.7	-	25	3495	c.3358G>C	c.(3358-3360)Gta>Cta	p.V1120L	TTC21B_ENST00000536175.1_Missense_Mutation_p.V58L	NM_024753.4	NP_079029.3	Q7Z4L5	TT21B_HUMAN	tetratricopeptide repeat domain 21B	1120					forebrain dorsal/ventral pattern formation (GO:0021798)|intraciliary retrograde transport (GO:0035721)|intraciliary transport involved in cilium morphogenesis (GO:0035735)|protein localization to cilium (GO:0061512)|regulation of smoothened signaling pathway (GO:0008589)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|smoothened signaling pathway (GO:0007224)|ventricular system development (GO:0021591)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|intraciliary transport particle A (GO:0030991)|nuclear chromatin (GO:0000790)				breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(9)|lung(28)|ovary(2)|pancreas(2)|skin(2)|urinary_tract(1)	58						CGAAGCTGTACGTGACCCTGA	0.378																																						ENST00000243344.7																			0				breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(9)|lung(28)|ovary(2)|pancreas(2)|skin(2)|urinary_tract(1)	58						c.(3358-3360)Gta>Cta		tetratricopeptide repeat domain 21B							146.0	130.0	135.0					2																	166744890		2202	4300	6502	SO:0001583	missense	79809					cilium axoneme|cytoplasm|cytoskeleton	binding	g.chr2:166744890C>G	AB082523	CCDS33315.1	2q24.3	2014-09-04			ENSG00000123607	ENSG00000123607		"""Tetratricopeptide (TTC) repeat domain containing"", ""Intraflagellar transport homologs"""	25660	protein-coding gene	gene with protein product		612014				12056414, 21258341	Standard	NM_024753		Approved	FLJ11457, JBTS11, NPHP12, IFT139, THM1	uc002udk.3	Q7Z4L5	OTTHUMG00000154083	ENST00000243344.7:c.3358G>C	2.37:g.166744890C>G	ENSP00000243344:p.Val1120Leu					TTC21B_ENST00000536175.1_Missense_Mutation_p.V58L	p.V1120L	NM_024753.4	NP_079029.3	Q7Z4L5	TT21B_HUMAN			25	3495	-			1120					A8MUZ3|Q3LIE4|Q53T84|Q6P4A1|Q6PIF5|Q8NCN3|Q96MA4|Q9HAK8	Missense_Mutation	SNP	ENST00000243344.7	37	c.3358G>C	CCDS33315.1	.	.	.	.	.	.	.	.	.	.	C	0.006	-2.042699	0.00402	.	.	ENSG00000123607	ENST00000536175;ENST00000243344	T;T	0.61158	0.13;0.41	5.77	0.106	0.14540	Tetratricopeptide-like helical (1);	0.533626	0.21468	N	0.074054	T	0.21590	0.0520	N	0.03154	-0.405	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.18085	-1.0348	10	0.06236	T	0.91	-10.8172	2.6255	0.04928	0.1198:0.4292:0.1252:0.3258	.	1120	Q7Z4L5	TT21B_HUMAN	L	58;1120	ENSP00000438692:V58L;ENSP00000243344:V1120L	ENSP00000243344:V1120L	V	-	1	0	TTC21B	166453136	0.000000	0.05858	0.008000	0.14137	0.115000	0.19883	-0.060000	0.11712	0.067000	0.16545	-0.282000	0.10007	GTA		0.378	TTC21B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333770.1	NM_024753		49	58	0	0	0	1	0	49	58				
DNAH11	8701	broad.mit.edu	37	7	21631019	21631019	+	Missense_Mutation	SNP	C	C	A			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr7:21631019C>A	ENST00000409508.3	+	14	2522	c.2491C>A	c.(2491-2493)Cag>Aag	p.Q831K	DNAH11_ENST00000328843.6_Missense_Mutation_p.Q831K	NM_001277115.1	NP_001264044.1	Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	831	Stem. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						TGAGCGCACACAGAAAAACGT	0.602									Kartagener syndrome																													ENST00000328843.6																			0				NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						c.(2491-2493)Cag>Aag		dynein, axonemal, heavy chain 11							42.0	46.0	45.0					7																	21631019		2110	4229	6339	SO:0001583	missense	8701	Kartagener syndrome	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr7:21631019C>A	U83569	CCDS64602.1	7p21	2008-07-18	2006-09-04					"""Axonemal dyneins"""	2942	protein-coding gene	gene with protein product	"""dynein, ciliary, heavy chain 11"", ""dynein, heavy chain beta-like"""	603339	"""dynein, axonemal, heavy polypeptide 11"""			9256245	Standard	NM_001277115		Approved	Dnahc11, DPL11, CILD7, DNAHC11, DNAHBL, DNHBL	uc031swp.1	Q96DT5		ENST00000409508.3:c.2491C>A	7.37:g.21631019C>A	ENSP00000475939:p.Gln831Lys					DNAH11_ENST00000409508.3_Missense_Mutation_p.Q831K	p.Q831K			Q96DT5	DYH11_HUMAN			14	2522	+			831			Stem (By similarity).		Q9UJ82	Missense_Mutation	SNP	ENST00000409508.3	37	c.2491C>A		.	.	.	.	.	.	.	.	.	.	C	0.040	-1.289806	0.01387	.	.	ENSG00000105877	ENST00000328843	T	0.21191	2.02	5.63	5.63	0.86233	.	0.114638	0.56097	D	0.000026	T	0.09423	0.0232	.	.	.	0.36868	D	0.888781	B	0.10296	0.003	B	0.06405	0.002	T	0.12268	-1.0554	9	0.02654	T	1	.	12.0181	0.53326	0.2766:0.7234:0.0:0.0	.	831	Q96DT5	DYH11_HUMAN	K	831	ENSP00000330671:Q831K	ENSP00000330671:Q831K	Q	+	1	0	DNAH11	21597544	1.000000	0.71417	0.359000	0.25824	0.009000	0.06853	5.560000	0.67332	2.658000	0.90341	0.561000	0.74099	CAG		0.602	DNAH11-001	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000326582.6	NM_003777		57	105	1	0	6.3091e-27	1	8.15799e-27	57	105				
CYP4A22	284541	broad.mit.edu	37	1	47606535	47606535	+	Silent	SNP	C	C	G			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr1:47606535C>G	ENST00000371891.3	+	2	310	c.279C>G	c.(277-279)ggC>ggG	p.G93G	CYP4A22_ENST00000294337.3_Silent_p.G93G|CYP4A22_ENST00000371890.3_Silent_p.G93G|CYP4A22_ENST00000485117.1_3'UTR|CYP4A22-AS1_ENST00000444042.2_lincRNA	NM_001010969.2	NP_001010969.2	Q5TCH4	CP4AM_HUMAN	cytochrome P450, family 4, subfamily A, polypeptide 22	93						endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)	alkane 1-monooxygenase activity (GO:0018685)|arachidonic acid omega-hydroxylase activity (GO:0052869)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						TATGGGGAGGCAAAGTTCGTG	0.507																																					Pancreas(88;1240 1470 2099 14214 37557)	ENST00000371891.3																			0				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(4)|ovary(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	22						c.(277-279)ggC>ggG		cytochrome P450, family 4, subfamily A, polypeptide 22							179.0	156.0	164.0					1																	47606535		2203	4300	6503	SO:0001819	synonymous_variant	284541					endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding	g.chr1:47606535C>G		CCDS30707.1	1p33	2007-12-14			ENSG00000162365	ENSG00000162365		"""Cytochrome P450s"""	20575	protein-coding gene	gene with protein product		615341					Standard	XM_005270768		Approved		uc001cqv.1	Q5TCH4	OTTHUMG00000007845	ENST00000371891.3:c.279C>G	1.37:g.47606535C>G						CYP4A22-AS1_ENST00000444042.2_lincRNA|CYP4A22_ENST00000485117.1_3'UTR|CYP4A22_ENST00000294337.3_Silent_p.G93G|CYP4A22_ENST00000371890.3_Silent_p.G93G	p.G93G	NM_001010969.2	NP_001010969.2	Q5TCH4	CP4AM_HUMAN			2	310	+			93					Q5TCH3|Q6JXK7|Q6JXK8|Q9NRM4	Silent	SNP	ENST00000371891.3	37	c.279C>G	CCDS30707.1																																																																																				0.507	CYP4A22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021635.1	XM_208213		74	142	0	0	0	1	0	74	142				
PSG8	440533	broad.mit.edu	37	19	43268170	43268170	+	Missense_Mutation	SNP	G	G	T			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr19:43268170G>T	ENST00000306511.4	-	2	425	c.328C>A	c.(328-330)Cag>Aag	p.Q110K	PSG8_ENST00000404209.4_Missense_Mutation_p.Q110K|PSG8_ENST00000406636.3_Intron|PSG8_ENST00000401467.2_Missense_Mutation_p.Q110K	NM_182707.2	NP_874366.1	Q9UQ74	PSG8_HUMAN	pregnancy specific beta-1-glycoprotein 8	110	Ig-like V-type.					extracellular region (GO:0005576)				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(19)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	40		Prostate(69;0.00899)				GTGACATTCTGGATCAGCAGG	0.413																																						ENST00000404209.4																			0				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(19)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	40						c.(328-330)Cag>Aag		pregnancy specific beta-1-glycoprotein 8							374.0	377.0	376.0					19																	43268170		2203	4299	6502	SO:0001583	missense	440533					extracellular region		g.chr19:43268170G>T	M74106	CCDS33037.1, CCDS46090.1, CCDS46091.1	19q13.2	2013-01-29			ENSG00000124467	ENSG00000124467		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9525	protein-coding gene	gene with protein product		176397				1672663, 1572651	Standard	NM_182707		Approved		uc002ouo.2	Q9UQ74	OTTHUMG00000151118	ENST00000306511.4:c.328C>A	19.37:g.43268170G>T	ENSP00000305005:p.Gln110Lys					PSG8_ENST00000401467.2_Missense_Mutation_p.Q110K|PSG8_ENST00000406636.3_Intron|PSG8_ENST00000306511.4_Missense_Mutation_p.Q110K	p.Q110K	NM_001130167.1	NP_001123639.1	Q9UQ74	PSG8_HUMAN			2	424	-		Prostate(69;0.00899)	110			Ig-like V-type.		A5PKV3|B2RPL4|B4DTI6|O60410|Q68CR6	Missense_Mutation	SNP	ENST00000306511.4	37	c.328C>A	CCDS33037.1	.	.	.	.	.	.	.	.	.	.	g	11.10	1.538674	0.27475	.	.	ENSG00000124467	ENST00000404209;ENST00000401467;ENST00000407488;ENST00000306511	T;T;T	0.66099	-0.19;-0.19;-0.19	1.35	1.35	0.21983	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.69967	0.3170	M	0.85099	2.735	0.18873	N	0.999986	B;B;P;B;B	0.34743	0.376;0.224;0.466;0.086;0.105	B;B;P;B;B	0.45681	0.357;0.198;0.49;0.082;0.133	T	0.64334	-0.6432	9	0.66056	D	0.02	.	6.1568	0.20342	0.0:0.0:1.0:0.0	.	110;110;110;110;110	B5MCQ0;Q9UQ74;E7ENH0;Q9UQ74-3;A5PKV3	.;PSG8_HUMAN;.;.;.	K	110	ENSP00000385869:Q110K;ENSP00000386090:Q110K;ENSP00000305005:Q110K	ENSP00000305005:Q110K	Q	-	1	0	PSG8	47960010	0.410000	0.25376	0.449000	0.26957	0.117000	0.20001	0.287000	0.18920	1.063000	0.40649	0.184000	0.17185	CAG		0.413	PSG8-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000464526.1			318	602	1	0	2.17704e-151	1	3.33968e-151	318	602				
TCTE1	202500	broad.mit.edu	37	6	44250254	44250254	+	Missense_Mutation	SNP	G	G	A	rs112092930		TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr6:44250254G>A	ENST00000371505.4	-	4	1011	c.889C>T	c.(889-891)Cgc>Tgc	p.R297C	TCTE1_ENST00000371504.1_Intron|TCTE1_ENST00000371503.3_Intron|TMEM151B_ENST00000438774.2_Intron|RP11-444E17.6_ENST00000505802.1_Intron	NM_182539.3	NP_872345.2	Q5JU00	TCTE1_HUMAN	t-complex-associated-testis-expressed 1	297								p.R297C(1)		breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(9)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34	Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			ATTATGATGCGTGCCTTGTCA	0.562																																						ENST00000371505.4																			1	Substitution - Missense(1)	p.R297C(1)	large_intestine(1)	breast(1)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(10)|lung(9)|ovary(2)|skin(3)|upper_aerodigestive_tract(1)	34						c.(889-891)Cgc>Tgc		t-complex-associated-testis-expressed 1							113.0	100.0	105.0					6																	44250254		2203	4300	6503	SO:0001583	missense	202500							g.chr6:44250254G>A	BC035022	CCDS4910.1	6q21.1	2014-07-18			ENSG00000146221	ENSG00000146221			11693	protein-coding gene	gene with protein product		186975				2568335, 8646886	Standard	NM_182539		Approved	D6S46, MGC33600, FAP155	uc003oxi.2	Q5JU00	OTTHUMG00000014763	ENST00000371505.4:c.889C>T	6.37:g.44250254G>A	ENSP00000360560:p.Arg297Cys					TMEM151B_ENST00000438774.2_Intron|TCTE1_ENST00000371503.3_Intron|TCTE1_ENST00000371504.1_Intron	p.R297C	NM_182539.3	NP_872345.2	Q5JU00	TCTE1_HUMAN	Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)		4	1011	-	Hepatocellular(11;0.00908)|all_lung(25;0.0101)|Ovarian(13;0.0273)		297					B4DX59|Q8IYS6	Missense_Mutation	SNP	ENST00000371505.4	37	c.889C>T	CCDS4910.1	.	.	.	.	.	.	.	.	.	.	G	8.982	0.975525	0.18736	.	.	ENSG00000146221	ENST00000371505	T	0.53857	0.6	5.37	5.37	0.77165	.	0.169046	0.51477	D	0.000093	T	0.29684	0.0741	L	0.58354	1.805	0.80722	D	1	P	0.35107	0.484	B	0.25291	0.059	T	0.34825	-0.9813	10	0.49607	T	0.09	-53.6838	8.815	0.34989	0.0774:0.0:0.7625:0.1601	.	297	Q5JU00	TCTE1_HUMAN	C	297	ENSP00000360560:R297C	ENSP00000360560:R297C	R	-	1	0	TCTE1	44358232	1.000000	0.71417	0.989000	0.46669	0.108000	0.19459	4.388000	0.59633	2.695000	0.91970	0.455000	0.32223	CGC		0.562	TCTE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040736.1	NM_182539		76	131	0	0	0	1	0	76	131				
CHPF2	54480	broad.mit.edu	37	7	150934743	150934743	+	Missense_Mutation	SNP	G	G	T			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr7:150934743G>T	ENST00000035307.2	+	4	2808	c.1295G>T	c.(1294-1296)gGc>gTc	p.G432V	MIR671_ENST00000390183.1_RNA|RP4-548D19.3_ENST00000607902.1_RNA|CHPF2_ENST00000495645.1_Missense_Mutation_p.G424V	NM_019015.1	NP_061888.1	Q9P2E5	CHPF2_HUMAN	chondroitin polymerizing factor 2	432					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi cisterna membrane (GO:0032580)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	acetylgalactosaminyltransferase activity (GO:0008376)|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity (GO:0050510)			breast(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(4)|prostate(1)|skin(3)	17						CTGCTCAACGGCTATCGGCGC	0.662																																						ENST00000035307.2																			0				breast(1)|endometrium(2)|large_intestine(3)|lung(3)|ovary(4)|prostate(1)|skin(3)	17						c.(1294-1296)gGc>gTc		chondroitin polymerizing factor 2							45.0	51.0	49.0					7																	150934743		2203	4300	6503	SO:0001583	missense	54480					Golgi cisterna membrane|integral to membrane	N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity	g.chr7:150934743G>T	AB037823	CCDS34779.1, CCDS64803.1	7q36.1	2013-02-19			ENSG00000033100	ENSG00000033100	2.4.1.226	"""Beta 3-glycosyltransferases"", ""Beta 4-glycosyltransferases"""	29270	protein-coding gene	gene with protein product		608037				10718198, 12145278, 18316376	Standard	NM_019015		Approved	KIAA1402, ChSy-3, CSGlcA-T	uc003wjr.1	Q9P2E5	OTTHUMG00000157380	ENST00000035307.2:c.1295G>T	7.37:g.150934743G>T	ENSP00000035307:p.Gly432Val					CHPF2_ENST00000495645.1_Missense_Mutation_p.G424V	p.G432V	NM_019015.1	NP_061888.1	Q9P2E5	CHPF2_HUMAN			4	2808	+			432					B2DBD8|Q6P2I4|Q6UXD2	Missense_Mutation	SNP	ENST00000035307.2	37	c.1295G>T	CCDS34779.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.144341	0.77888	.	.	ENSG00000033100	ENST00000495645;ENST00000035307;ENST00000377851	T;T	0.29142	1.58;1.58	5.5	4.61	0.57282	.	0.000000	0.85682	D	0.000000	T	0.55878	0.1948	M	0.81942	2.565	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.984	T	0.59532	-0.7437	10	0.62326	D	0.03	-23.1149	12.4895	0.55891	0.0806:0.0:0.9194:0.0	.	432;424	Q9P2E5;G5E9W2	CHPF2_HUMAN;.	V	424;432;432	ENSP00000418914:G424V;ENSP00000035307:G432V	ENSP00000035307:G432V	G	+	2	0	CHPF2	150565676	1.000000	0.71417	0.997000	0.53966	0.983000	0.72400	8.016000	0.88706	2.584000	0.87258	0.563000	0.77884	GGC		0.662	CHPF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348648.2	NM_019015		113	144	1	0	1.34498e-63	1	1.97819e-63	113	144				
INTS7	25896	broad.mit.edu	37	1	212151805	212151805	+	Missense_Mutation	SNP	T	T	C			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr1:212151805T>C	ENST00000366994.3	-	11	1383	c.1279A>G	c.(1279-1281)Agc>Ggc	p.S427G	INTS7_ENST00000366992.3_Missense_Mutation_p.S427G|INTS7_ENST00000366993.3_Missense_Mutation_p.S427G|INTS7_ENST00000469606.1_5'UTR|INTS7_ENST00000440600.2_Missense_Mutation_p.S378G	NM_001199811.1|NM_001199812.1|NM_015434.3	NP_001186740.1|NP_001186741.1|NP_056249.1	Q9NVH2	INT7_HUMAN	integrator complex subunit 7	427					cellular response to ionizing radiation (GO:0071479)|DNA damage checkpoint (GO:0000077)|snRNA processing (GO:0016180)	chromosome (GO:0005694)|integrator complex (GO:0032039)				NS(1)|breast(1)|kidney(1)|large_intestine(8)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20				OV - Ovarian serous cystadenocarcinoma(81;0.00584)|all cancers(67;0.0318)|Epithelial(68;0.0852)		ACTGACTGGCTAAGATGGGGC	0.468																																						ENST00000366994.3																			0				NS(1)|breast(1)|kidney(1)|large_intestine(8)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						c.(1279-1281)Agc>Ggc		integrator complex subunit 7							87.0	83.0	84.0					1																	212151805		2203	4300	6503	SO:0001583	missense	25896				snRNA processing	integrator complex	protein binding	g.chr1:212151805T>C	AK022509	CCDS1501.1, CCDS55684.1, CCDS55683.1, CCDS55685.1	1q32.3	2008-02-05	2006-03-15	2006-03-15	ENSG00000143493	ENSG00000143493			24484	protein-coding gene	gene with protein product		611350	"""chromosome 1 open reading frame 73"""	C1orf73		16239144	Standard	NM_015434		Approved	DKFZP434B168, INT7	uc001hiw.2	Q9NVH2	OTTHUMG00000037119	ENST00000366994.3:c.1279A>G	1.37:g.212151805T>C	ENSP00000355961:p.Ser427Gly					INTS7_ENST00000440600.2_Missense_Mutation_p.S378G|INTS7_ENST00000469606.1_5'UTR|INTS7_ENST00000366992.3_Missense_Mutation_p.S427G|INTS7_ENST00000366993.3_Missense_Mutation_p.S427G	p.S427G	NM_001199811.1|NM_001199812.1|NM_015434.3	NP_001186740.1|NP_001186741.1|NP_056249.1	Q9NVH2	INT7_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.00584)|all cancers(67;0.0318)|Epithelial(68;0.0852)	11	1383	-			427					B4DLZ6|B7WNP6|B7WPB6|Q8N4K7|Q8WUH5|Q9H9V3|Q9NVU5|Q9UFC6|Q9UFM3	Missense_Mutation	SNP	ENST00000366994.3	37	c.1279A>G	CCDS1501.1	.	.	.	.	.	.	.	.	.	.	T	15.65	2.896280	0.52121	.	.	ENSG00000143493	ENST00000366994;ENST00000366993;ENST00000366992;ENST00000440600	T;T;T;T	0.27104	1.69;1.69;1.69;1.69	5.69	3.4	0.38934	Armadillo-like helical (1);Armadillo-type fold (1);	0.035261	0.85682	N	0.000000	T	0.19644	0.0472	N	0.20881	0.62	0.52501	D	0.999956	B;B;B;P	0.45474	0.004;0.004;0.004;0.859	B;B;B;P	0.47673	0.006;0.009;0.006;0.554	T	0.03157	-1.1066	10	0.14252	T	0.57	-6.0814	9.6252	0.39746	0.0:0.1402:0.0:0.8598	.	378;427;427;427	B4DLZ6;Q9NVH2-3;Q9NVH2-2;Q9NVH2	.;.;.;INT7_HUMAN	G	427;427;427;378	ENSP00000355961:S427G;ENSP00000355960:S427G;ENSP00000355959:S427G;ENSP00000388908:S378G	ENSP00000355959:S427G	S	-	1	0	INTS7	210218428	1.000000	0.71417	0.988000	0.46212	0.983000	0.72400	7.751000	0.85126	0.450000	0.26774	0.528000	0.53228	AGC		0.468	INTS7-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090142.1	NM_015434		70	96	0	0	0	1	0	70	96				
OR2G2	81470	broad.mit.edu	37	1	247751829	247751829	+	Silent	SNP	C	C	A			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr1:247751829C>A	ENST00000320065.1	+	1	168	c.168C>A	c.(166-168)ccC>ccA	p.P56P	RP11-978I15.10_ENST00000446347.1_RNA|RP11-978I15.10_ENST00000435333.1_RNA	NM_001001915.1	NP_001001915.1	Q8NGZ5	OR2G2_HUMAN	olfactory receptor, family 2, subfamily G, member 2	56						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(4)|kidney(4)|large_intestine(3)|lung(30)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			GTCTGGAACCCAAGCTTCATA	0.438																																						ENST00000320065.1																			0				endometrium(4)|kidney(4)|large_intestine(3)|lung(30)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						c.(166-168)ccC>ccA		olfactory receptor, family 2, subfamily G, member 2							268.0	242.0	251.0					1																	247751829		2203	4300	6503	SO:0001819	synonymous_variant	81470				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:247751829C>A	BK004472	CCDS31092.1	1q44	2012-08-09	2008-05-23		ENSG00000177489	ENSG00000177489		"""GPCR / Class A : Olfactory receptors"""	15007	protein-coding gene	gene with protein product			"""olfactory receptor, family 2, subfamily G, member 2"", ""olfactory receptor, family 2, subfamily G, member 2 pseudogene"""				Standard	NM_001001915		Approved		uc010pyy.2	Q8NGZ5	OTTHUMG00000040575	ENST00000320065.1:c.168C>A	1.37:g.247751829C>A						RP11-978I15.10_ENST00000435333.1_RNA|RP11-978I15.10_ENST00000446347.1_RNA	p.P56P	NM_001001915.1	NP_001001915.1	Q8NGZ5	OR2G2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.017)		1	168	+	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		56					Q5JQT2|Q6IEZ0	Silent	SNP	ENST00000320065.1	37	c.168C>A	CCDS31092.1																																																																																				0.438	OR2G2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097623.1			115	173	1	0	1.67525e-54	1	2.41416e-54	115	173				
LAMA2	3908	broad.mit.edu	37	6	129513841	129513841	+	Missense_Mutation	SNP	G	G	T			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr6:129513841G>T	ENST00000421865.2	+	12	1674	c.1625G>T	c.(1624-1626)gGc>gTc	p.G542V		NM_000426.3|NM_001079823.1	NP_000417|NP_001073291.1	P24043	LAMA2_HUMAN	laminin, alpha 2	542	Laminin IV type A 1. {ECO:0000255|PROSITE-ProRule:PRU00458}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|muscle organ development (GO:0007517)|myelination in peripheral nervous system (GO:0022011)|positive regulation of synaptic transmission, cholinergic (GO:0032224)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)	basement membrane (GO:0005604)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|sarcolemma (GO:0042383)	structural molecule activity (GO:0005198)			NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194				OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)		GATATGAGTGGCTGGTATCTG	0.478																																						ENST00000421865.2																			0				NS(2)|biliary_tract(2)|breast(10)|central_nervous_system(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(35)|lung(84)|ovary(10)|prostate(4)|skin(9)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(2)	194						c.(1624-1626)gGc>gTc		laminin, alpha 2							57.0	56.0	56.0					6																	129513841		2203	4300	6503	SO:0001583	missense	3908				cell adhesion|muscle organ development|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	laminin-1 complex	receptor binding|structural molecule activity	g.chr6:129513841G>T	Z26653	CCDS5138.1	6q22-q23	2014-09-17	2008-08-01		ENSG00000196569	ENSG00000196569		"""Laminins"""	6482	protein-coding gene	gene with protein product	"""merosin"", ""congenital muscular dystrophy"""	156225		LAMM		2185464, 8294519	Standard	NM_000426		Approved		uc003qbn.3	P24043	OTTHUMG00000015545	ENST00000421865.2:c.1625G>T	6.37:g.129513841G>T	ENSP00000400365:p.Gly542Val						p.G542V	NM_000426.3|NM_001079823.1	NP_000417.2|NP_001073291.1	P24043	LAMA2_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.178)|all cancers(137;0.245)	12	1674	+			542			Laminin IV type A 1.		Q14736|Q5VUM2|Q93022	Missense_Mutation	SNP	ENST00000421865.2	37	c.1625G>T	CCDS5138.1	.	.	.	.	.	.	.	.	.	.	G	19.82	3.898331	0.72639	.	.	ENSG00000196569	ENST00000358023;ENST00000354729;ENST00000421865	T	0.35605	1.3	5.42	4.54	0.55810	Laminin B type IV (1);	0.063724	0.64402	D	0.000007	T	0.46908	0.1417	M	0.82823	2.61	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.64595	0.927;0.927	T	0.49835	-0.8897	10	0.29301	T	0.29	.	11.9573	0.52988	0.1449:0.0:0.8551:0.0	.	542;542	A6NF00;P24043	.;LAMA2_HUMAN	V	542	ENSP00000400365:G542V	ENSP00000346769:G542V	G	+	2	0	LAMA2	129555534	1.000000	0.71417	0.997000	0.53966	0.988000	0.76386	5.415000	0.66411	1.255000	0.44051	0.650000	0.86243	GGC		0.478	LAMA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042180.1			46	72	1	0	1.15183e-24	1	1.46721e-24	46	72				
NEUROD4	58158	broad.mit.edu	37	12	55420705	55420705	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr12:55420705G>A	ENST00000242994.3	+	2	860	c.482G>A	c.(481-483)gGg>gAg	p.G161E		NM_021191.2	NP_067014.2	Q9HD90	NDF4_HUMAN	neuronal differentiation 4	161					amacrine cell differentiation (GO:0035881)|cell fate commitment (GO:0045165)|glial cell differentiation (GO:0010001)|neuroblast proliferation (GO:0007405)|neuron development (GO:0048666)|neuron migration (GO:0001764)|Notch signaling pathway (GO:0007219)|positive regulation of cell differentiation (GO:0045597)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	41						CTGTGTAAAGGGCTCTCTCAG	0.517																																						ENST00000242994.3																			0				breast(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(14)|ovary(3)|prostate(2)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)	41						c.(481-483)gGg>gAg		neuronal differentiation 4							55.0	57.0	56.0					12																	55420705		2203	4300	6503	SO:0001583	missense	58158				amacrine cell differentiation|positive regulation of cell differentiation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr12:55420705G>A	AF203901	CCDS8886.1	12q13.13	2013-05-21	2012-02-22			ENSG00000123307		"""Basic helix-loop-helix proteins"""	13802	protein-coding gene	gene with protein product		611635	"""neurogenic differentiation 4"""				Standard	NM_021191		Approved	Atoh3, ATH-3, MATH-3, bHLHa4	uc001sgp.4	Q9HD90		ENST00000242994.3:c.482G>A	12.37:g.55420705G>A	ENSP00000242994:p.Gly161Glu						p.G161E	NM_021191.2	NP_067014.2	Q9HD90	NDF4_HUMAN			2	860	+			161					B2RAC9	Missense_Mutation	SNP	ENST00000242994.3	37	c.482G>A	CCDS8886.1	.	.	.	.	.	.	.	.	.	.	G	24.0	4.481222	0.84747	.	.	ENSG00000123307	ENST00000242994	D	0.91407	-2.84	5.56	5.56	0.83823	Neurogenic differentiation factor, domain of unknown function (1);Helix-loop-helix DNA-binding (1);	0.000000	0.85682	D	0.000000	D	0.95633	0.8580	M	0.83223	2.63	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95818	0.8847	10	0.87932	D	0	-9.5446	17.4011	0.87459	0.0:0.0:1.0:0.0	.	161	Q9HD90	NDF4_HUMAN	E	161	ENSP00000242994:G161E	ENSP00000242994:G161E	G	+	2	0	NEUROD4	53706972	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.869000	0.99810	2.774000	0.95407	0.655000	0.94253	GGG		0.517	NEUROD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406104.1			66	103	0	0	0	1	0	66	103				
ANKRD20A5P	440482	broad.mit.edu	37	18	14184292	14184292	+	RNA	SNP	C	C	T	rs558921496	byFrequency	TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr18:14184292C>T	ENST00000581935.1	+	0	981							A0PJZ0	A20A5_HUMAN	ankyrin repeat domain 20 family, member A5, pseudogene											lung(3)	3						CTTTATAAAACGCACTTTGGA	0.279													.|||	8	0.00159744	0.0015	0.0	5008	,	,		17560	0.004		0.001	False		,,,				2504	0.001					ENST00000581935.1																			0				lung(3)	3																																														440482							g.chr18:14184292C>T	BC022023		18p11.21	2011-06-01	2011-06-01	2011-06-01	ENSG00000186481	ENSG00000186481			33833	pseudogene	pseudogene			"""ankyrin repeat domain 20 family, member A5"""	ANKRD20A5			Standard	NR_040113		Approved	MGC26718	uc010xag.2	A0PJZ0	OTTHUMG00000157172		18.37:g.14184292C>T														0	981	+								Q4G1B6	RNA	SNP	ENST00000581935.1	37																																																																																						0.279	ANKRD20A5P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000442833.1			3	23	0	0	0	1	0	3	23				
AFF3	3899	broad.mit.edu	37	2	100217970	100217970	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr2:100217970C>T	ENST00000409236.2	-	12	1410	c.1298G>A	c.(1297-1299)gGa>gAa	p.G433E	AFF3_ENST00000409579.1_Missense_Mutation_p.G458E|AFF3_ENST00000356421.2_Missense_Mutation_p.G458E|AFF3_ENST00000317233.4_Missense_Mutation_p.G433E			P51826	AFF3_HUMAN	AF4/FMR2 family, member 3	433					embryonic hindlimb morphogenesis (GO:0035116)|regulation of transcription, DNA-templated (GO:0006355)|response to tumor necrosis factor (GO:0034612)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)			NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						CGAGTCAGATCCGGAGCTGCT	0.662																																						ENST00000317233.4																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						c.(1297-1299)gGa>gAa		AF4/FMR2 family, member 3							15.0	16.0	16.0					2																	100217970		2202	4298	6500	SO:0001583	missense	3899				multicellular organismal development|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr2:100217970C>T	U34360	CCDS33258.1, CCDS42723.1	2q11.2-q12	2008-02-05	2005-06-27	2005-06-27	ENSG00000144218	ENSG00000144218			6473	protein-coding gene	gene with protein product		601464	"""lymphoid nuclear protein related to AF4"""	LAF4		8662235, 8555498	Standard	XM_005263945		Approved	MLLT2-like	uc002taf.3	P51826	OTTHUMG00000153011	ENST00000409236.2:c.1298G>A	2.37:g.100217970C>T	ENSP00000387207:p.Gly433Glu					AFF3_ENST00000356421.2_Missense_Mutation_p.G458E|AFF3_ENST00000409579.1_Missense_Mutation_p.G458E|AFF3_ENST00000409236.1_Missense_Mutation_p.G433E	p.G433E	NM_002285.2	NP_002276.2	P51826	AFF3_HUMAN			13	1533	-			433					B7ZM46|B9EGL9|D3DVI6|Q53RD6|Q53S47|Q53SI6|Q53TB9|Q59F27|Q8IWJ5	Missense_Mutation	SNP	ENST00000409236.2	37	c.1298G>A	CCDS42723.1	.	.	.	.	.	.	.	.	.	.	C	0.020	-1.444458	0.01089	.	.	ENSG00000144218	ENST00000317233;ENST00000356421;ENST00000409579;ENST00000409236;ENST00000433370;ENST00000444786;ENST00000432288	T;T;T;T	0.63255	-0.03;-0.03;-0.03;-0.03	5.17	5.17	0.71159	.	0.580848	0.16780	N	0.199822	T	0.37265	0.0997	N	0.17594	0.5	0.45150	D	0.998169	P;B;B	0.41978	0.767;0.117;0.233	B;B;B	0.38683	0.279;0.064;0.064	T	0.45411	-0.9263	10	0.02654	T	1	.	6.7278	0.23367	0.0:0.7798:0.0:0.2202	.	586;433;458	B7Z4I6;P51826;P51826-2	.;AFF3_HUMAN;.	E	433;458;458;433;433;586;458	ENSP00000317421:G433E;ENSP00000348793:G458E;ENSP00000386834:G458E;ENSP00000387207:G433E	ENSP00000317421:G433E	G	-	2	0	AFF3	99584402	1.000000	0.71417	0.854000	0.33618	0.020000	0.10135	4.139000	0.58024	2.413000	0.81919	0.579000	0.79373	GGA		0.662	AFF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328982.3	NM_002285		17	32	0	0	0	1	0	17	32				
CACNA1A	773	broad.mit.edu	37	19	13411423	13411423	+	Silent	SNP	C	C	T			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr19:13411423C>T	ENST00000360228.5	-	18	2219	c.2220G>A	c.(2218-2220)caG>caA	p.Q740Q	CACNA1A_ENST00000573710.2_Silent_p.Q741Q	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	741					adult walking behavior (GO:0007628)|behavioral response to pain (GO:0048266)|calcium ion import (GO:0070509)|calcium ion-dependent exocytosis (GO:0017156)|calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|cell death (GO:0008219)|cell growth (GO:0016049)|cellular chloride ion homeostasis (GO:0030644)|cerebellar molecular layer development (GO:0021679)|cerebellar Purkinje cell differentiation (GO:0021702)|cerebellum maturation (GO:0021590)|dendrite morphogenesis (GO:0048813)|energy reserve metabolic process (GO:0006112)|gamma-aminobutyric acid secretion (GO:0014051)|gamma-aminobutyric acid signaling pathway (GO:0007214)|glucose metabolic process (GO:0006006)|hormone metabolic process (GO:0042445)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|musculoskeletal movement, spinal reflex action (GO:0050883)|negative regulation of hormone biosynthetic process (GO:0032353)|negative regulation of neuron apoptotic process (GO:0043524)|neuromuscular process controlling balance (GO:0050885)|neuromuscular synaptic transmission (GO:0007274)|neurotransmitter metabolic process (GO:0042133)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|receptor clustering (GO:0043113)|regulation of acetylcholine secretion, neurotransmission (GO:0014056)|regulation of axonogenesis (GO:0050770)|regulation of calcium ion-dependent exocytosis (GO:0017158)|regulation of insulin secretion (GO:0050796)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|spinal cord motor neuron differentiation (GO:0021522)|sulfur amino acid metabolic process (GO:0000096)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transmission of nerve impulse (GO:0019226)|vestibular nucleus development (GO:0021750)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|syntaxin binding (GO:0019905)|voltage-gated calcium channel activity (GO:0005245)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		Bepridil(DB01244)|Loperamide(DB00836)|Pregabalin(DB00230)|Spironolactone(DB00421)|Verapamil(DB00661)	CCTTGGCTTTCTGTAGGGCAA	0.522																																						ENST00000360228.5																			0				breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(25)|prostate(2)|urinary_tract(1)	42						c.(2218-2220)caG>caA		calcium channel, voltage-dependent, P/Q type, alpha 1A subunit	Bepridil(DB01244)|Cinnarizine(DB00568)|Loperamide(DB00836)|Nisoldipine(DB00401)|Pregabalin(DB00230)						237.0	244.0	242.0					19																	13411423		2008	4177	6185	SO:0001819	synonymous_variant	773				cell death|elevation of cytosolic calcium ion concentration|energy reserve metabolic process|membrane depolarization|regulation of insulin secretion	cytoplasm|nucleus	syntaxin binding	g.chr19:13411423C>T	U79666	CCDS45998.1, CCDS45999.1	19p13	2014-09-17			ENSG00000141837	ENSG00000141837		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1388	protein-coding gene	gene with protein product		601011		CACNL1A4, SCA6, MHP1, MHP		8825650, 16382099, 23827678	Standard	NM_000068		Approved	Cav2.1, EA2, APCA, HPCA, FHM	uc010xne.2	O00555	OTTHUMG00000044590	ENST00000360228.5:c.2220G>A	19.37:g.13411423C>T						CACNA1A_ENST00000573710.2_Silent_p.Q741Q	p.Q740Q	NM_000068.3|NM_001127222.1|NM_001174080.1|NM_023035.2	NP_000059.3|NP_001120694.1|NP_001167551.1|NP_075461.2	O00555	CAC1A_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;5.07e-21)		18	2219	-			741					J3KP41|P78510|P78511|Q16290|Q92690|Q99790|Q99791|Q99792|Q99793|Q9NS88|Q9UDC4	Silent	SNP	ENST00000360228.5	37	c.2220G>A	CCDS45998.1																																																																																				0.522	CACNA1A-001	KNOWN	non_canonical_U12|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000104062.2	NM_000068		105	176	0	0	0	1	0	105	176				
INF2	64423	broad.mit.edu	37	14	105181075	105181075	+	Silent	SNP	C	C	A			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr14:105181075C>A	ENST00000392634.4	+	21	3688	c.3576C>A	c.(3574-3576)tcC>tcA	p.S1192S	INF2_ENST00000330634.7_Silent_p.S1192S	NM_022489.3	NP_071934.3	Q27J81	INF2_HUMAN	inverted formin, FH2 and WH2 domain containing	1192					actin cytoskeleton organization (GO:0030036)|cell death (GO:0008219)|regulation of cellular component size (GO:0032535)|regulation of mitochondrial fission (GO:0090140)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)				large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	8		all_cancers(154;0.0896)|Melanoma(154;0.155)|all_epithelial(191;0.172)	all cancers(16;0.00188)|OV - Ovarian serous cystadenocarcinoma(23;0.0191)|Epithelial(46;0.047)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.176)		TGGACAAGTCCTTCTCCGAGG	0.687																																						ENST00000392634.4																			0				large_intestine(3)|lung(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	8						c.(3574-3576)tcC>tcA		inverted formin, FH2 and WH2 domain containing							17.0	22.0	20.0					14																	105181075		2058	4161	6219	SO:0001819	synonymous_variant	64423				actin cytoskeleton organization	endoplasmic reticulum|nucleus|perinuclear region of cytoplasm	actin binding|Rho GTPase binding	g.chr14:105181075C>A	AK025709	CCDS9989.2, CCDS45173.1	14q32.33	2009-09-07	2007-11-29	2007-11-29	ENSG00000203485	ENSG00000203485			23791	protein-coding gene	gene with protein product	"""inverted formin 2"""	610982	"""chromosome 14 open reading frame 151"", ""chromosome 14 open reading frame 173"""	C14orf151, C14orf173		16818491	Standard	NM_001031714		Approved	MGC13251	uc001ypb.2	Q27J81	OTTHUMG00000029811	ENST00000392634.4:c.3576C>A	14.37:g.105181075C>A						INF2_ENST00000330634.7_Silent_p.S1192S	p.S1192S	NM_022489.3	NP_071934.3	Q27J81	INF2_HUMAN	all cancers(16;0.00188)|OV - Ovarian serous cystadenocarcinoma(23;0.0191)|Epithelial(46;0.047)|GBM - Glioblastoma multiforme(11;0.116)	Epithelial(152;0.176)	21	3688	+		all_cancers(154;0.0896)|Melanoma(154;0.155)|all_epithelial(191;0.172)	1192					Q27J83|Q69YL8|Q6P1X7|Q6PK22|Q86TR7|Q9BRM1|Q9H6N1	Silent	SNP	ENST00000392634.4	37	c.3576C>A	CCDS9989.2																																																																																				0.687	INF2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000074371.4	NM_022489		20	36	1	0	1.96292e-10	1	2.13231e-10	20	36				
PEG3	5178	broad.mit.edu	37	19	57326605	57326605	+	Missense_Mutation	SNP	C	C	A	rs573103723		TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr19:57326605C>A	ENST00000326441.9	-	10	3568	c.3205G>T	c.(3205-3207)Gat>Tat	p.D1069Y	ZIM2_ENST00000391708.3_Intron|ZIM2_ENST00000593711.1_Intron|PEG3_ENST00000423103.2_Missense_Mutation_p.D1069Y|ZIM2_ENST00000599935.1_Intron|ZIM2_ENST00000601070.1_Intron|ZIM2_ENST00000221722.5_Intron|PEG3_ENST00000593695.1_Missense_Mutation_p.D943Y|PEG3_ENST00000598410.1_Missense_Mutation_p.D945Y	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN	paternally expressed 3	1069					apoptotic process (GO:0006915)|genetic imprinting (GO:0071514)|in utero embryonic development (GO:0001701)|multicellular organism growth (GO:0035264)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0269)		TCCTCCCCATCAGTATTCTCG	0.498																																						ENST00000326441.9																			0				NS(1)|biliary_tract(4)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(27)|lung(84)|ovary(8)|pancreas(5)|prostate(6)|skin(8)|stomach(2)|upper_aerodigestive_tract(6)	170						c.(3205-3207)Gat>Tat		paternally expressed 3							150.0	135.0	140.0					19																	57326605		2203	4300	6503	SO:0001583	missense	5178				apoptosis|viral reproduction	cytoplasm|nucleus	nucleic acid binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:57326605C>A	AB006625	CCDS12948.1, CCDS58684.1, CCDS58685.1	19q13.4	2013-01-09				ENSG00000198300		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	8826	protein-coding gene	gene with protein product		601483				9149948	Standard	NM_006210		Approved	ZKSCAN22, KIAA0287, ZNF904, ZSCAN24	uc010etr.2	Q9GZU2		ENST00000326441.9:c.3205G>T	19.37:g.57326605C>A	ENSP00000326581:p.Asp1069Tyr					PEG3_ENST00000423103.2_Missense_Mutation_p.D1069Y|ZIM2_ENST00000221722.5_Intron|ZIM2_ENST00000593711.1_Intron|PEG3_ENST00000593695.1_Missense_Mutation_p.D943Y|PEG3_ENST00000598410.1_Missense_Mutation_p.D945Y|ZIM2_ENST00000599935.1_Intron|ZIM2_ENST00000391708.3_Intron|ZIM2_ENST00000601070.1_Intron	p.D1069Y	NM_006210.2	NP_006201.1	Q9GZU2	PEG3_HUMAN		GBM - Glioblastoma multiforme(193;0.0269)	10	3568	-		Colorectal(82;0.000256)|all_neural(62;0.103)|Ovarian(87;0.243)	1069					A7E2B8|B4DIM4|C9JP50|P78418|Q5H9P9|Q7Z7H7|Q8TF75|Q9GZY2	Missense_Mutation	SNP	ENST00000326441.9	37	c.3205G>T	CCDS12948.1	.	.	.	.	.	.	.	.	.	.	C	0	-2.866839	0.00063	.	.	ENSG00000198300	ENST00000326441;ENST00000423103	T;T	0.02863	4.13;4.13	2.5	-5.0	0.03001	.	2.678910	0.01592	N	0.021597	T	0.01661	0.0053	N	0.08118	0	.	.	.	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.43360	-0.9396	9	0.51188	T	0.08	0.3141	1.9401	0.03345	0.4072:0.1289:0.3349:0.1291	.	945;1069;1004	A7E2B8;Q9GZU2;Q96Q96	.;PEG3_HUMAN;.	Y	1069	ENSP00000326581:D1069Y;ENSP00000403051:D1069Y	ENSP00000326581:D1069Y	D	-	1	0	ZIM2	62018417	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.519000	0.22862	-2.118000	0.00828	-3.508000	0.00033	GAT		0.498	PEG3-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416099.2			36	289	1	0	1.69901e-12	1	1.91867e-12	36	289				
SEMA3D	223117	broad.mit.edu	37	7	84669998	84669998	+	Missense_Mutation	SNP	G	G	T			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr7:84669998G>T	ENST00000284136.6	-	9	1080	c.1037C>A	c.(1036-1038)aCt>aAt	p.T346N	SEMA3D_ENST00000484038.1_5'UTR	NM_152754.2	NP_689967.2	O95025	SEM3D_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3D	346	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				cell differentiation (GO:0030154)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|membrane (GO:0016020)	receptor activity (GO:0004872)			NS(1)|breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(19)|lung(29)|ovary(3)|pancreas(1)|prostate(4)|skin(2)	73						CCTGGTTGTAGTAAAGACTCC	0.308																																					Ovarian(63;442 1191 17318 29975 31528)	ENST00000284136.6																			0				NS(1)|breast(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(19)|lung(29)|ovary(3)|pancreas(1)|prostate(4)|skin(2)	73						c.(1036-1038)aCt>aAt		sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3D							68.0	75.0	72.0					7																	84669998		2202	4297	6499	SO:0001583	missense	223117				cell differentiation|nervous system development	extracellular region|membrane	receptor activity	g.chr7:84669998G>T	BC029590	CCDS34676.1	7q21.11	2013-01-11			ENSG00000153993	ENSG00000153993		"""Semaphorins"", ""Immunoglobulin superfamily / V-set domain containing"""	10726	protein-coding gene	gene with protein product		609907					Standard	NM_152754		Approved	coll-2, Sema-Z2	uc003uic.3	O95025	OTTHUMG00000154569	ENST00000284136.6:c.1037C>A	7.37:g.84669998G>T	ENSP00000284136:p.Thr346Asn					SEMA3D_ENST00000484038.1_5'UTR	p.T346N	NM_152754.2	NP_689967.2	O95025	SEM3D_HUMAN			9	1080	-			346			Sema.		A6NK46|Q6UW77|Q8NCQ1	Missense_Mutation	SNP	ENST00000284136.6	37	c.1037C>A	CCDS34676.1	.	.	.	.	.	.	.	.	.	.	G	19.49	3.837568	0.71373	.	.	ENSG00000153993	ENST00000284136	T	0.12465	2.68	5.52	5.52	0.82312	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.000000	0.85682	D	0.000000	T	0.41926	0.1180	M	0.80616	2.505	0.80722	D	1	D	0.76494	0.999	D	0.77557	0.99	T	0.09796	-1.0658	10	0.35671	T	0.21	.	19.8046	0.96525	0.0:0.0:1.0:0.0	.	346	O95025	SEM3D_HUMAN	N	346	ENSP00000284136:T346N	ENSP00000284136:T346N	T	-	2	0	SEMA3D	84507934	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.587000	0.82613	2.754000	0.94517	0.650000	0.86243	ACT		0.308	SEMA3D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336084.2	NM_152754		18	35	1	0	1.02788e-11	1	1.13973e-11	18	35				
TENM1	10178	broad.mit.edu	37	X	123518698	123518698	+	Missense_Mutation	SNP	A	A	T			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chrX:123518698A>T	ENST00000371130.3	-	29	6125	c.6062T>A	c.(6061-6063)cTt>cAt	p.L2021H	STAG2_ENST00000469481.1_Intron|TENM1_ENST00000422452.2_Missense_Mutation_p.L2028H	NM_014253.3	NP_055068.2	Q9UKZ4	TEN1_HUMAN	teneurin transmembrane protein 1	2021					immune response (GO:0006955)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neuropeptide signaling pathway (GO:0007218)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|response to stress (GO:0006950)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|nuclear matrix (GO:0016363)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)										GCGTCCAATAAGAGGTCCTGC	0.423																																						ENST00000422452.2																			0											c.(6082-6084)cTt>cAt		teneurin transmembrane protein 1							39.0	34.0	36.0					X																	123518698		2202	4296	6498	SO:0001583	missense	10178							g.chrX:123518698A>T	AF100772	CCDS14609.1, CCDS55488.1	Xq25	2012-10-02	2012-10-02	2012-10-02	ENSG00000009694	ENSG00000009694			8117	protein-coding gene	gene with protein product		300588	"""tenascin M"", ""odz, odd Oz/ten-m homolog 1 (Drosophila)"""	ODZ3, TNM, ODZ1		10331952, 10341219	Standard	NM_001163278		Approved	TEN-M1	uc010nqy.3	Q9UKZ4	OTTHUMG00000022721	ENST00000371130.3:c.6062T>A	X.37:g.123518698A>T	ENSP00000360171:p.Leu2021His					TENM1_ENST00000371130.3_Missense_Mutation_p.L2021H|STAG2_ENST00000469481.1_Intron	p.L2028H	NM_001163278.1|NM_001163279.1	NP_001156750.1|NP_001156751.1					30	6146	-								B2RTR5|Q5JZ17	Missense_Mutation	SNP	ENST00000371130.3	37	c.6083T>A	CCDS14609.1	.	.	.	.	.	.	.	.	.	.	A	17.54	3.415598	0.62511	.	.	ENSG00000009694	ENST00000371130;ENST00000422452	D;D	0.90504	-2.68;-2.65	5.44	5.44	0.79542	.	0.000000	0.85682	D	0.000000	D	0.94447	0.8213	M	0.67397	2.05	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.997;0.998;1.0	D	0.94968	0.8114	10	0.87932	D	0	.	14.5423	0.68005	1.0:0.0:0.0:0.0	.	2027;2028;2021	B7ZMH4;B2RTR5;Q9UKZ4	.;.;TEN1_HUMAN	H	2021;2028	ENSP00000360171:L2021H;ENSP00000403954:L2028H	ENSP00000360171:L2021H	L	-	2	0	ODZ1	123346379	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	8.984000	0.93482	1.813000	0.52934	0.486000	0.48141	CTT		0.423	TENM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058985.1	NM_014253		60	20	0	0	0	1	0	60	20				
BAGE2	85319	broad.mit.edu	37	21	11039008	11039008	+	RNA	SNP	A	A	G			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr21:11039008A>G	ENST00000470054.1	-	0	1195							Q86Y30	BAGE2_HUMAN	B melanoma antigen family, member 2							extracellular region (GO:0005576)								Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		GGTATGAAACATCTTTCACAC	0.393																																						ENST00000470054.1																			0													B melanoma antigen family, member 2																																						85319							g.chr21:11039008A>G	AF218570		21p	2009-03-13			ENSG00000187172	ENSG00000187172			15723	protein-coding gene	gene with protein product	"""cancer/testis antigen family 2, member 2"""					12461691	Standard	NM_182482		Approved	CT2.2		Q86Y30	OTTHUMG00000074128		21.37:g.11039008A>G												Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)	0	1195	-								A8K925|Q08ER0	RNA	SNP	ENST00000470054.1	37																																																																																						0.393	BAGE2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000157417.3	NM_182482		45	677	0	0	0	1	0	45	677				
ZNF675	171392	broad.mit.edu	37	19	23836878	23836878	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr19:23836878C>T	ENST00000359788.4	-	4	1025	c.857G>A	c.(856-858)tGt>tAt	p.C286Y	ZNF675_ENST00000596211.1_Intron|ZNF675_ENST00000600313.1_Intron|ZNF675_ENST00000601935.1_Intron	NM_138330.2	NP_612203.2	Q8TD23	ZN675_HUMAN	zinc finger protein 675	286					bone resorption (GO:0045453)|cytokine-mediated signaling pathway (GO:0019221)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|negative regulation of interleukin-1-mediated signaling pathway (GO:2000660)|negative regulation of JNK cascade (GO:0046329)|negative regulation of JUN kinase activity (GO:0043508)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|negative regulation of tumor necrosis factor-mediated signaling pathway (GO:0010804)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	DNA binding (GO:0003677)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)			endometrium(3)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	27		all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206)				ACATTCTTCACATTTGTAGGG	0.378																																						ENST00000359788.4																			0				endometrium(3)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	27						c.(856-858)tGt>tAt		zinc finger protein 675							53.0	57.0	56.0					19																	23836878		2200	4296	6496	SO:0001583	missense	171392				bone resorption|cytokine-mediated signaling pathway|hemopoiesis|I-kappaB kinase/NF-kappaB cascade|negative regulation of JNK cascade|negative regulation of osteoclast differentiation|negative regulation of protein kinase activity|negative regulation of transcription, DNA-dependent|regulation of ossification|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|protein binding|zinc ion binding	g.chr19:23836878C>T		CCDS32981.1	19p12	2013-01-08						"""Zinc fingers, C2H2-type"", ""-"""	30768	protein-coding gene	gene with protein product	"""TRAF6 inhibitory zinc finger"""					11751921	Standard	NM_138330		Approved	TIZ, TBZF	uc002nri.3	Q8TD23		ENST00000359788.4:c.857G>A	19.37:g.23836878C>T	ENSP00000352836:p.Cys286Tyr					ZNF675_ENST00000600313.1_Intron|ZNF675_ENST00000596211.1_Intron|ZNF675_ENST00000601935.1_Intron	p.C286Y	NM_138330.2	NP_612203.2	Q8TD23	ZN675_HUMAN			4	1025	-		all_lung(12;0.11)|Lung NSC(12;0.163)|all_epithelial(12;0.206)	286					Q8N211	Missense_Mutation	SNP	ENST00000359788.4	37	c.857G>A	CCDS32981.1	.	.	.	.	.	.	.	.	.	.	.	11.55	1.671577	0.29693	.	.	ENSG00000197372	ENST00000359788	D	0.85088	-1.94	0.916	0.916	0.19373	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.92146	0.7510	M	0.93678	3.445	0.41106	D	0.9857	D	0.67145	0.996	D	0.65323	0.934	D	0.90586	0.4533	9	0.56958	D	0.05	.	8.5828	0.33640	0.0:1.0:0.0:0.0	.	286	Q8TD23	ZN675_HUMAN	Y	286	ENSP00000352836:C286Y	ENSP00000352836:C286Y	C	-	2	0	ZNF675	23628718	0.996000	0.38824	0.508000	0.27688	0.507000	0.33981	5.283000	0.65621	0.300000	0.22699	0.305000	0.20034	TGT		0.378	ZNF675-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466433.1	NM_138330		21	48	0	0	0	1	0	21	48				
MROH2B	133558	broad.mit.edu	37	5	41058254	41058254	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr5:41058254G>A	ENST00000399564.4	-	7	1117	c.667C>T	c.(667-669)Cgg>Tgg	p.R223W	MROH2B_ENST00000506092.2_5'UTR	NM_173489.4	NP_775760.3	Q7Z745	MRO2B_HUMAN	maestro heat-like repeat family member 2B	223																	AAGTCTTCCCGATGCAGCAGC	0.502																																						ENST00000399564.4																			0											c.(667-669)Cgg>Tgg		maestro heat-like repeat family member 2B							69.0	68.0	68.0					5																	41058254		1928	4126	6054	SO:0001583	missense	133558							g.chr5:41058254G>A		CCDS47202.1	5p13.1	2012-12-19	2012-12-19	2012-12-19	ENSG00000171495	ENSG00000171495		"""maestro heat-like repeat containing"""	26857	protein-coding gene	gene with protein product			"""HEAT repeat family member 7B2"""	HEATR7B2		12477932	Standard	NM_173489		Approved	DKFZp781F0822, FLJ40243	uc003jmj.4	Q7Z745	OTTHUMG00000162151	ENST00000399564.4:c.667C>T	5.37:g.41058254G>A	ENSP00000382476:p.Arg223Trp					MROH2B_ENST00000506092.2_5'UTR	p.R223W	NM_173489.4	NP_775760.3					7	1117	-								Q68DM1|Q7Z4U4|Q8N7X3	Missense_Mutation	SNP	ENST00000399564.4	37	c.667C>T	CCDS47202.1	.	.	.	.	.	.	.	.	.	.	G	19.78	3.891124	0.72524	.	.	ENSG00000171495	ENST00000399564	T	0.06849	3.25	5.27	4.39	0.52855	Armadillo-type fold (1);	0.000000	0.47093	D	0.000250	T	0.22282	0.0537	L	0.54323	1.7	0.34220	D	0.675317	D	0.89917	1.0	D	0.91635	0.999	T	0.23190	-1.0195	10	0.66056	D	0.02	.	10.976	0.47467	0.0:0.0:0.814:0.186	.	223	Q7Z745	HTRB2_HUMAN	W	223	ENSP00000382476:R223W	ENSP00000382476:R223W	R	-	1	2	HEATR7B2	41094011	0.997000	0.39634	0.969000	0.41365	0.852000	0.48524	2.127000	0.42035	1.405000	0.46838	0.650000	0.86243	CGG		0.502	MROH2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367558.2	NM_173489		20	79	0	0	0	1	0	20	79				
KHDRBS2	202559	broad.mit.edu	37	6	62757889	62757889	+	Missense_Mutation	SNP	A	A	T			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr6:62757889A>T	ENST00000281156.4	-	3	508	c.230T>A	c.(229-231)gTg>gAg	p.V77E		NM_152688.2	NP_689901.2	Q5VWX1	KHDR2_HUMAN	KH domain containing, RNA binding, signal transduction associated 2	77	KH. {ECO:0000255|PROSITE- ProRule:PRU00117}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	poly(A) binding (GO:0008143)|poly(U) RNA binding (GO:0008266)			NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(5)|liver(1)|lung(13)|ovary(3)|prostate(3)|skin(12)|upper_aerodigestive_tract(2)|urinary_tract(1)	49				BRCA - Breast invasive adenocarcinoma(397;0.149)		CAATTTCCCCACAAAATTGAA	0.363																																						ENST00000281156.4																			0				NS(1)|breast(2)|endometrium(4)|kidney(2)|large_intestine(5)|liver(1)|lung(13)|ovary(3)|prostate(3)|skin(12)|upper_aerodigestive_tract(2)|urinary_tract(1)	49						c.(229-231)gTg>gAg		KH domain containing, RNA binding, signal transduction associated 2							113.0	106.0	109.0					6																	62757889		2203	4300	6503	SO:0001583	missense	202559				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	SH3 domain binding	g.chr6:62757889A>T	BC034043	CCDS4963.1	6q11.1	2013-09-20			ENSG00000112232	ENSG00000112232			18114	protein-coding gene	gene with protein product	"""Sam68-like mammalian protein 1"""	610487					Standard	NM_152688		Approved	SLM1, SLM-1, MGC26664	uc003peg.2	Q5VWX1	OTTHUMG00000014936	ENST00000281156.4:c.230T>A	6.37:g.62757889A>T	ENSP00000281156:p.Val77Glu						p.V77E	NM_152688.2	NP_689901.2	Q5VWX1	KHDR2_HUMAN		BRCA - Breast invasive adenocarcinoma(397;0.149)	3	508	-			77			KH.		A8K7M8|Q8N4I4|Q8TCZ4	Missense_Mutation	SNP	ENST00000281156.4	37	c.230T>A	CCDS4963.1	.	.	.	.	.	.	.	.	.	.	A	20.2	3.947046	0.73672	.	.	ENSG00000112232	ENST00000281156;ENST00000539571	T	0.36878	1.23	5.05	3.86	0.44501	K Homology (1);K Homology, type 1, subgroup (1);K Homology, type 1 (1);	0.125047	0.53938	D	0.000053	T	0.57460	0.2055	M	0.92833	3.35	0.80722	D	1	D	0.76494	0.999	D	0.70935	0.971	T	0.68895	-0.5288	10	0.87932	D	0	-2.9578	12.0982	0.53767	0.8559:0.1441:0.0:0.0	.	77	Q5VWX1	KHDR2_HUMAN	E	77	ENSP00000281156:V77E	ENSP00000281156:V77E	V	-	2	0	KHDRBS2	62815848	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.283000	0.95860	0.831000	0.34780	0.377000	0.23210	GTG		0.363	KHDRBS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041066.2	NM_152688		46	104	0	0	0	1	0	46	104				
CDH18	1016	broad.mit.edu	37	5	19571723	19571723	+	Silent	SNP	C	C	T			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr5:19571723C>T	ENST00000507958.1	-	10	2208	c.1218G>A	c.(1216-1218)ttG>ttA	p.L406L	CDH18_ENST00000502796.1_Silent_p.L406L|CDH18_ENST00000506372.1_Silent_p.L406L|CDH18_ENST00000511273.1_Silent_p.L406L|CDH18_ENST00000382275.1_Silent_p.L406L|CDH18_ENST00000274170.4_Silent_p.L406L			Q13634	CAD18_HUMAN	cadherin 18, type 2	406	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)	138	Lung NSC(1;0.00734)|all_lung(1;0.0197)					GATCTTGTGCCAAAACTGTAC	0.403																																						ENST00000507958.1																			0				breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(24)|lung(76)|ovary(5)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)	138						c.(1216-1218)ttG>ttA		cadherin 18, type 2							151.0	128.0	135.0					5																	19571723		2203	4300	6503	SO:0001819	synonymous_variant	1016				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:19571723C>T	U59325	CCDS3889.1, CCDS54835.1, CCDS75229.1	5p14.3	2010-01-26			ENSG00000145526	ENSG00000145526		"""Cadherins / Major cadherins"""	1757	protein-coding gene	gene with protein product		603019				9030594, 10191097	Standard	NM_004934		Approved	CDH14, EY-CADHERIN	uc003jgd.3	Q13634	OTTHUMG00000090578	ENST00000507958.1:c.1218G>A	5.37:g.19571723C>T						CDH18_ENST00000511273.1_Silent_p.L406L|CDH18_ENST00000506372.1_Silent_p.L406L|CDH18_ENST00000274170.4_Silent_p.L406L|CDH18_ENST00000502796.1_Silent_p.L406L|CDH18_ENST00000382275.1_Silent_p.L406L	p.L406L			Q13634	CAD18_HUMAN			10	2208	-	Lung NSC(1;0.00734)|all_lung(1;0.0197)		406			Cadherin 4.		A8K0I2|B4DHG6|Q8N5Z2	Silent	SNP	ENST00000507958.1	37	c.1218G>A	CCDS3889.1																																																																																				0.403	CDH18-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366747.1	NM_004934		50	107	0	0	0	1	0	50	107				
HNRNPL	3191	broad.mit.edu	37	19	39330868	39330868	+	Silent	SNP	T	T	G			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr19:39330868T>G	ENST00000221419.5	-	8	1467	c.1101A>C	c.(1099-1101)ccA>ccC	p.P367P	HNRNPL_ENST00000600873.1_Silent_p.P234P|AC104534.3_ENST00000594769.1_5'Flank	NM_001533.2	NP_001524.2	P14866	HNRPL_HUMAN	heterogeneous nuclear ribonucleoprotein L	367	Pro-rich.				gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|pronucleus (GO:0045120)|ribonucleoprotein complex (GO:0030529)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|transcription regulatory region DNA binding (GO:0044212)	p.P367P(1)|p.P234P(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	30	all_cancers(60;6.83e-06)|Ovarian(47;0.0454)		Lung(45;0.00342)|LUSC - Lung squamous cell carcinoma(53;0.00575)			GGGGAGGGGGTGGGGGGTGCC	0.642																																						ENST00000221419.5																			2	Substitution - coding silent(2)	p.P367P(1)|p.P234P(1)	central_nervous_system(2)	NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(10)|lung(9)|ovary(1)|prostate(1)|urinary_tract(1)	30						c.(1099-1101)ccA>ccC		heterogeneous nuclear ribonucleoprotein L							7.0	9.0	8.0					19																	39330868		1496	3077	4573	SO:0001819	synonymous_variant	3191				nuclear mRNA splicing, via spliceosome	cytoplasm|heterogeneous nuclear ribonucleoprotein complex|nucleoplasm	nucleotide binding|protein binding|RNA binding|transcription regulatory region DNA binding	g.chr19:39330868T>G	X16135	CCDS33015.1, CCDS33016.1	19q13.2	2013-06-12		2007-08-16	ENSG00000104824	ENSG00000104824		"""RNA binding motif (RRM) containing"""	5045	protein-coding gene	gene with protein product		603083		HNRPL		2687284	Standard	NM_001533		Approved		uc021uuh.1	P14866	OTTHUMG00000182612	ENST00000221419.5:c.1101A>C	19.37:g.39330868T>G						HNRNPL_ENST00000600873.1_Silent_p.P234P	p.P367P	NM_001533.2	NP_001524.2	P14866	HNRPL_HUMAN	Lung(45;0.00342)|LUSC - Lung squamous cell carcinoma(53;0.00575)		8	1467	-	all_cancers(60;6.83e-06)|Ovarian(47;0.0454)		367			Pro-rich.		A6ND69|A6NIT8|Q9H3P3	Silent	SNP	ENST00000221419.5	37	c.1101A>C	CCDS33015.1																																																																																				0.642	HNRNPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000462670.1			10	21	0	0	0	1	0	10	21				
PPARGC1A	10891	broad.mit.edu	37	4	23891570	23891570	+	Missense_Mutation	SNP	T	T	A			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr4:23891570T>A	ENST00000264867.2	-	1	130	c.11A>T	c.(10-12)gAc>gTc	p.D4V	PPARGC1A_ENST00000507380.1_Missense_Mutation_p.D4V	NM_013261.3	NP_037393.1	Q9UBK2	PRGC1_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator 1 alpha	4					androgen metabolic process (GO:0008209)|androgen receptor signaling pathway (GO:0030521)|brown fat cell differentiation (GO:0050873)|cellular glucose homeostasis (GO:0001678)|cellular respiration (GO:0045333)|cellular response to fatty acid (GO:0071398)|cellular response to hypoxia (GO:0071456)|cellular response to nitrite (GO:0071250)|cellular response to oxidative stress (GO:0034599)|cellular response to thyroid hormone stimulus (GO:0097067)|cellular response to tumor necrosis factor (GO:0071356)|circadian regulation of gene expression (GO:0032922)|digestion (GO:0007586)|fatty acid oxidation (GO:0019395)|flavone metabolic process (GO:0051552)|galactose metabolic process (GO:0006012)|gluconeogenesis (GO:0006094)|mitochondrion organization (GO:0007005)|mRNA processing (GO:0006397)|negative regulation of glycolytic process (GO:0045820)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of neuron death (GO:1901215)|negative regulation of receptor activity (GO:2000272)|positive regulation of ATP biosynthetic process (GO:2001171)|positive regulation of cellular respiration (GO:1901857)|positive regulation of energy homeostasis (GO:2000507)|positive regulation of fatty acid oxidation (GO:0046321)|positive regulation of gluconeogenesis (GO:0045722)|positive regulation of histone acetylation (GO:0035066)|positive regulation of mitochondrial DNA metabolic process (GO:1901860)|positive regulation of mitochondrion organization (GO:0010822)|positive regulation of muscle tissue development (GO:1901863)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein stabilization (GO:0050821)|regulation of circadian rhythm (GO:0042752)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of transcription, DNA-templated (GO:0006355)|respiratory electron transport chain (GO:0022904)|response to cold (GO:0009409)|response to epinephrine (GO:0071871)|response to leucine (GO:0043201)|response to muscle activity (GO:0014850)|response to norepinephrine (GO:0071873)|response to starvation (GO:0042594)|response to statin (GO:0036273)|RNA splicing (GO:0008380)|temperature homeostasis (GO:0001659)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytosol (GO:0005829)|DNA-directed RNA polymerase II, core complex (GO:0005665)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin DNA binding (GO:0031490)|DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nucleotide binding (GO:0000166)|RNA binding (GO:0003723)|RNA polymerase II transcription cofactor activity (GO:0001104)|sequence-specific DNA binding (GO:0043565)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|liver(1)|lung(24)|ovary(3)|skin(5)	51		Breast(46;0.0503)				GTTGCACATGTCCCACGCCAT	0.562																																					Esophageal Squamous(29;694 744 13796 34866 44181)	ENST00000264867.2																			0				central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|liver(1)|lung(24)|ovary(3)|skin(5)	51						c.(10-12)gAc>gTc		peroxisome proliferator-activated receptor gamma, coactivator 1 alpha							147.0	120.0	130.0					4																	23891570		2203	4300	6503	SO:0001583	missense	10891				androgen receptor signaling pathway|brown fat cell differentiation|cellular glucose homeostasis|digestion|fatty acid oxidation|gluconeogenesis|mitochondrion organization|mRNA processing|neuron death|positive regulation of fatty acid oxidation|positive regulation of gluconeogenesis|positive regulation of histone acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|protein complex assembly|protein stabilization|response to muscle activity|response to starvation|RNA splicing|temperature homeostasis|transcription initiation from RNA polymerase II promoter	DNA-directed RNA polymerase II, core complex	androgen receptor binding|DNA binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|RNA binding|RNA polymerase II transcription cofactor activity|transcription factor binding	g.chr4:23891570T>A	AF106698	CCDS3429.1	4p15.1	2013-02-12	2006-10-17	2004-02-04	ENSG00000109819	ENSG00000109819		"""RNA binding motif (RRM) containing"""	9237	protein-coding gene	gene with protein product		604517	"""peroxisome proliferative activated receptor, gamma, coactivator 1"", ""peroxisome proliferative activated receptor, gamma, coactivator 1, alpha"""	PPARGC1		10585775	Standard	NM_013261		Approved	PGC1, PGC1A	uc003gqs.3	Q9UBK2	OTTHUMG00000097747	ENST00000264867.2:c.11A>T	4.37:g.23891570T>A	ENSP00000264867:p.Asp4Val					PPARGC1A_ENST00000507380.1_Missense_Mutation_p.D4V	p.D4V	NM_013261.3	NP_037393.1	Q9UBK2	PRGC1_HUMAN			1	130	-		Breast(46;0.0503)	4					B7Z406|G8DM16|I3RTT5|I3RTT6|I3RTT7|I3RTT8|I3RTT9|Q3LIG1|Q4W5M7|Q9UN32	Missense_Mutation	SNP	ENST00000264867.2	37	c.11A>T	CCDS3429.1	.	.	.	.	.	.	.	.	.	.	T	18.84	3.709506	0.68730	.	.	ENSG00000109819	ENST00000264867;ENST00000507380	T	0.31769	1.48	5.95	5.95	0.96441	.	0.000000	0.85682	D	0.000000	T	0.51601	0.1684	L	0.50333	1.59	0.80722	D	1	D;D	0.89917	1.0;0.998	D;D	0.91635	0.999;0.994	T	0.52049	-0.8627	10	0.87932	D	0	-10.1677	16.4237	0.83790	0.0:0.0:0.0:1.0	.	4;4	D6RBF3;Q9UBK2	.;PRGC1_HUMAN	V	4	ENSP00000264867:D4V	ENSP00000264867:D4V	D	-	2	0	PPARGC1A	23500668	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.463000	0.80869	2.279000	0.76181	0.533000	0.62120	GAC		0.562	PPARGC1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214976.1	NM_013261		68	124	0	0	0	1	0	68	124				
SAMHD1	25939	broad.mit.edu	37	20	35526866	35526866	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr20:35526866C>T	ENST00000262878.4	-	14	1784	c.1585G>A	c.(1585-1587)Gca>Aca	p.A529T		NM_015474.3	NP_056289.2	Q9Y3Z3	SAMH1_HUMAN	SAM domain and HD domain 1	529					dATP catabolic process (GO:0046061)|defense response to virus (GO:0051607)|dGTP catabolic process (GO:0006203)|immune response (GO:0006955)|innate immune response (GO:0045087)|protein homotetramerization (GO:0051289)|regulation of innate immune response (GO:0045088)	intracellular (GO:0005622)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	dGTP binding (GO:0032567)|dGTPase activity (GO:0008832)|nucleic acid binding (GO:0003676)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|urinary_tract(1)	20		Myeloproliferative disorder(115;0.00878)				ATCCTGATTGCTCTGTTGGGG	0.323																																						ENST00000262878.4																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|urinary_tract(1)	20						c.(1585-1587)Gca>Aca		SAM domain and HD domain 1							202.0	187.0	193.0					20																	35526866		2203	4300	6503	SO:0001583	missense	25939				defense response to virus|innate immune response|regulation of innate immune response	nucleus	metal ion binding|phosphoric diester hydrolase activity	g.chr20:35526866C>T	AF228421	CCDS13288.1	20q11.23	2014-09-17			ENSG00000101347	ENSG00000101347		"""Sterile alpha motif (SAM) domain containing"""	15925	protein-coding gene	gene with protein product	"""HD domain containing 1"", ""monocyte protein 5"", ""Aicardi-Goutieres syndrome 5"""	606754				11064105, 11230166	Standard	NM_015474		Approved	SBBI88, Mg11, HDDC1, MOP-5, AGS5	uc002xgh.2	Q9Y3Z3	OTTHUMG00000032402	ENST00000262878.4:c.1585G>A	20.37:g.35526866C>T	ENSP00000262878:p.Ala529Thr						p.A529T	NM_015474.3	NP_056289.2	Q9Y3Z3	SAMH1_HUMAN			14	1784	-		Myeloproliferative disorder(115;0.00878)	529					B4E2A5|E1P5V2|Q5JXG8|Q8N491|Q9H004|Q9H005|Q9H3U9	Missense_Mutation	SNP	ENST00000262878.4	37	c.1585G>A	CCDS13288.1	.	.	.	.	.	.	.	.	.	.	C	13.35	2.210582	0.39102	.	.	ENSG00000101347	ENST00000262878	D	0.95307	-3.67	5.62	2.63	0.31362	.	0.170041	0.51477	N	0.000094	D	0.93103	0.7804	M	0.76574	2.34	0.80722	D	1	B	0.23990	0.095	B	0.24006	0.05	D	0.87824	0.2640	10	0.48119	T	0.1	-7.3973	12.9965	0.58650	0.0:0.7028:0.2329:0.0644	.	529	Q9Y3Z3	SAMH1_HUMAN	T	529	ENSP00000262878:A529T	ENSP00000262878:A529T	A	-	1	0	SAMHD1	34960280	0.876000	0.30132	0.006000	0.13384	0.011000	0.07611	1.580000	0.36547	0.051000	0.15978	-1.371000	0.01190	GCA		0.323	SAMHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079062.2	NM_015474		48	77	0	0	0	1	0	48	77				
MFRP	83552	broad.mit.edu	37	11	119212270	119212270	+	Missense_Mutation	SNP	A	A	C			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr11:119212270A>C	ENST00000530681.1	-	13	1872	c.1728T>G	c.(1726-1728)tgT>tgG	p.C576W	C1QTNF5_ENST00000528368.1_5'Flank|C1QTNF5_ENST00000525657.1_5'Flank|MFRP_ENST00000555262.1_Missense_Mutation_p.C576W|C1QTNF5_ENST00000445041.2_5'UTR|MFRP_ENST00000360167.4_Missense_Mutation_p.C458W|MFRP_ENST00000449574.2_Missense_Mutation_p.C576W	NM_001278431.1	NP_001265360.1	Q9BY79	MFRP_HUMAN	membrane frizzled-related protein	576	FZ. {ECO:0000255|PROSITE- ProRule:PRU00090}.				embryo development (GO:0009790)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)|urinary_tract(1)	18		Medulloblastoma(222;0.0523)|Breast(348;0.174)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;3.84e-05)		AGGGCTGGGCACAAGCTTCCA	0.652																																						ENST00000555262.1																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)|urinary_tract(1)	18						c.(1726-1728)tgT>tgG		membrane frizzled-related protein							19.0	24.0	22.0					11																	119212270		2191	4288	6479	SO:0001583	missense	83552							g.chr11:119212270A>C	AB055505	CCDS8421.1	11q23.3	2014-01-28			ENSG00000235718	ENSG00000235718			18121	protein-coding gene	gene with protein product	"""membrane-type frizzled-related protein"", ""complement C1q tumor necrosis factor-related protein 5 precursor variant 1"""	606227				11263980	Standard	NM_031433		Approved	FLJ30570, rd6, NNO2, C1QTNF5	uc001pwj.2	Q9BY79		ENST00000530681.1:c.1728T>G	11.37:g.119212270A>C	ENSP00000456533:p.Cys576Trp					MFRP_ENST00000449574.2_Missense_Mutation_p.C576W|MFRP_ENST00000530681.1_Missense_Mutation_p.C576W|MFRP_ENST00000360167.4_Missense_Mutation_p.C458W|C1QTNF5_ENST00000445041.2_5'UTR	p.C576W	NM_001278431.1	NP_001265360.1				BRCA - Breast invasive adenocarcinoma(274;3.84e-05)	13	1887	-		Medulloblastoma(222;0.0523)|Breast(348;0.174)|all_neural(223;0.224)						B0YJ36|B0YJ37|B4DHN8|Q335M3|Q96DQ9	Missense_Mutation	SNP	ENST00000530681.1	37	c.1728T>G	CCDS8421.1	.	.	.	.	.	.	.	.	.	.	A	12.71	2.020065	0.35606	.	.	ENSG00000235718	ENST00000555262;ENST00000449574;ENST00000360167	D;D;D	0.93547	-3.24;-3.24;-3.24	4.22	-0.911	0.10507	Frizzled domain (4);	0.000000	0.85682	D	0.000000	D	0.96399	0.8825	M	0.89840	3.065	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.95000	0.8142	10	0.87932	D	0	-8.1356	11.0035	0.47620	0.5398:0.0:0.4602:0.0	.	458;576	B4DHN8;Q9BY79	.;MFRP_HUMAN	W	576;576;458	ENSP00000450509:C576W;ENSP00000391664:C576W;ENSP00000353291:C458W	ENSP00000353291:C458W	C	-	3	2	MFRP	118717480	0.955000	0.32602	0.576000	0.28549	0.379000	0.30106	0.643000	0.24750	-0.380000	0.07894	-1.447000	0.01057	TGT		0.652	MFRP-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	nonsense_mediated_decay	protein_coding	OTTHUMT00000415179.1	NM_031433		22	98	0	0	0	1	0	22	98				
ABCA13	154664	broad.mit.edu	37	7	48682991	48682991	+	Splice_Site	SNP	T	T	G			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr7:48682991T>G	ENST00000435803.1	+	60	14967		c.e60+2		ABCA13_ENST00000544596.1_Splice_Site	NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13						transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						CAGTTCAAGGTAGTGCTAATA	0.303																																						ENST00000435803.1																			0				breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						c.e60+2		ATP-binding cassette, sub-family A (ABC1), member 13							146.0	139.0	141.0					7																	48682991		1807	4069	5876	SO:0001630	splice_region_variant	154664				transport	integral to membrane	ATP binding|ATPase activity	g.chr7:48682991T>G	AY204751	CCDS47584.1	7p12.3	2012-03-14			ENSG00000179869	ENSG00000179869		"""ATP binding cassette transporters / subfamily A"""	14638	protein-coding gene	gene with protein product		607807				12697998	Standard	NM_152701		Approved	FLJ33876, FLJ33951	uc003toq.2	Q86UQ4	OTTHUMG00000155840	ENST00000435803.1:c.14943+2T>G	7.37:g.48682991T>G						ABCA13_ENST00000544596.1_Splice_Site		NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN			60	14967	+								K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Splice_Site	SNP	ENST00000435803.1	37		CCDS47584.1	.	.	.	.	.	.	.	.	.	.	T	16.66	3.183872	0.57800	.	.	ENSG00000179869	ENST00000435803;ENST00000411975;ENST00000544596	.	.	.	5.39	5.39	0.77823	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.7757	0.57445	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	ABCA13	48653537	1.000000	0.71417	0.999000	0.59377	0.663000	0.39108	4.678000	0.61641	2.033000	0.60031	0.533000	0.62120	.		0.303	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341964.2	NM_152701	Intron	76	132	0	0	0	1	0	76	132				
PPFIA2	8499	broad.mit.edu	37	12	81676811	81676811	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr12:81676811G>A	ENST00000549396.1	-	26	3156	c.2996C>T	c.(2995-2997)tCt>tTt	p.S999F	PPFIA2_ENST00000545296.2_Intron|RP11-121G22.3_ENST00000549161.1_lincRNA|PPFIA2_ENST00000541017.1_Intron|PPFIA2_ENST00000333447.7_Missense_Mutation_p.S984F|PPFIA2_ENST00000552948.1_Missense_Mutation_p.S978F|PPFIA2_ENST00000541570.2_Intron|PPFIA2_ENST00000443686.3_Missense_Mutation_p.S900F|PPFIA2_ENST00000550584.2_Missense_Mutation_p.S999F|PPFIA2_ENST00000407050.4_Missense_Mutation_p.S904F|PPFIA2_ENST00000549325.1_Missense_Mutation_p.S984F|PPFIA2_ENST00000550359.2_Missense_Mutation_p.S846F|PPFIA2_ENST00000548586.1_Missense_Mutation_p.S999F	NM_001220476.1|NM_001282536.1|NM_003625.3	NP_001207405.1|NP_001269465.1|NP_003616.2	O75334	LIPA2_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2	999					cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|presynaptic active zone (GO:0048786)				NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)	85						TCCTTCCTCAGATTCTTTCTG	0.323																																						ENST00000550584.2																			0				NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)	85						c.(2995-2997)tCt>tTt		protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2							76.0	69.0	71.0					12																	81676811		1814	4075	5889	SO:0001583	missense	8499							g.chr12:81676811G>A	AF034799	CCDS55850.1, CCDS55851.1, CCDS55852.1, CCDS55853.1, CCDS55854.1, CCDS55855.1, CCDS55856.1, CCDS55857.1, CCDS59236.1, CCDS73503.1	12q21.31	2013-01-10						"""Sterile alpha motif (SAM) domain containing"""	9246	protein-coding gene	gene with protein product	"""Liprin-alpha2"""	603143				9624153	Standard	NM_003625		Approved		uc031qis.1	O75334		ENST00000549396.1:c.2996C>T	12.37:g.81676811G>A	ENSP00000450337:p.Ser999Phe					PPFIA2_ENST00000541017.1_Intron|PPFIA2_ENST00000550359.2_Missense_Mutation_p.S846F|PPFIA2_ENST00000407050.4_Missense_Mutation_p.S904F|PPFIA2_ENST00000552948.1_Missense_Mutation_p.S978F|PPFIA2_ENST00000549396.1_Missense_Mutation_p.S999F|PPFIA2_ENST00000443686.3_Missense_Mutation_p.S900F|PPFIA2_ENST00000549325.1_Missense_Mutation_p.S984F|PPFIA2_ENST00000545296.2_Intron|RP11-121G22.3_ENST00000549161.1_lincRNA|PPFIA2_ENST00000541570.2_Intron|PPFIA2_ENST00000548586.1_Missense_Mutation_p.S999F|PPFIA2_ENST00000333447.7_Missense_Mutation_p.S984F	p.S999F	NM_001220473.1	NP_001207402.1	B7Z663	B7Z663_HUMAN			25	3291	-			904					B3KVT5|B3KXA0|B7Z2A6|B7Z3U9|B7Z663|B7ZKZ5|E7ERB8|E7ETG6|F8VP68|Q2M3G8	Missense_Mutation	SNP	ENST00000549396.1	37	c.2996C>T	CCDS55857.1	.	.	.	.	.	.	.	.	.	.	G	18.24	3.579149	0.65878	.	.	ENSG00000139220	ENST00000549396;ENST00000549325;ENST00000407050;ENST00000541501;ENST00000333447;ENST00000548586;ENST00000443686;ENST00000552948	T;T;T;T;T;T;T	0.24538	2.21;2.21;1.85;2.21;2.2;1.88;2.18	5.57	5.57	0.84162	.	0.000000	0.85682	D	0.000000	T	0.25865	0.0630	L	0.47716	1.5	0.80722	D	1	P	0.38922	0.651	B	0.36504	0.226	T	0.02339	-1.1174	10	0.56958	D	0.05	-12.5459	15.5102	0.75776	0.0:0.0:0.8611:0.1389	.	999	O75334	LIPA2_HUMAN	F	999;984;904;1010;984;999;900;978	ENSP00000450337:S999F;ENSP00000450298:S984F;ENSP00000385093:S904F;ENSP00000327416:S984F;ENSP00000449338:S999F;ENSP00000388373:S900F;ENSP00000447868:S978F	ENSP00000327416:S984F	S	-	2	0	PPFIA2	80200942	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.242000	0.72376	2.779000	0.95612	0.655000	0.94253	TCT		0.323	PPFIA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000408030.1			3	43	0	0	0	1	0	3	43				
ARX	170302	broad.mit.edu	37	X	25028384	25028384	+	Missense_Mutation	SNP	C	C	G			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chrX:25028384C>G	ENST00000379044.4	-	3	1322	c.1112G>C	c.(1111-1113)cGa>cCa	p.R371P		NM_139058.2	NP_620689.1	Q96QS3	ARX_HUMAN	aristaless related homeobox	371					axon guidance (GO:0007411)|cell proliferation in forebrain (GO:0021846)|cerebral cortex GABAergic interneuron migration (GO:0021853)|cerebral cortex tangential migration (GO:0021800)|embryonic olfactory bulb interneuron precursor migration (GO:0021831)|epithelial cell fate commitment (GO:0072148)|globus pallidus development (GO:0021759)|lipid digestion (GO:0044241)|positive regulation of organ growth (GO:0046622)|regulation of cell proliferation (GO:0042127)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001206)			kidney(1)|large_intestine(2)|lung(1)	4						CACCTGGACTCGGGCCTCGGT	0.632																																						ENST00000379044.4																			0				kidney(1)|large_intestine(2)|lung(1)	4						c.(1111-1113)cGa>cCa		aristaless related homeobox							58.0	48.0	51.0					X																	25028384		2202	4300	6502	SO:0001583	missense	170302					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chrX:25028384C>G	AY038071	CCDS14215.1	Xp21.3	2011-06-20			ENSG00000004848	ENSG00000004848		"""Homeoboxes / PRD class"""	18060	protein-coding gene	gene with protein product	"""cancer/testis antigen 121"""	300382	"""mental retardation, X-linked 54"", ""mental retardation, X-linked 43"", ""mental retardation, X-linked 36"", ""mental retardation, X-linked 29"", ""mental retardation, X-linked 32"", ""mental retardation, X-linked 33"", ""mental retardation, X-linked 38"", ""mental retardation, X-linked 87"", ""mental retardation, X-linked 76"""	MRXS1, PRTS, MRX76, MRX54, MRX43, MRX36, MRX29, MRX32, MRX33, MRX38, MRX87		11889467, 15850492, 17480217	Standard	NM_139058		Approved	ISSX, CT121, EIEE1	uc004dbp.4	Q96QS3	OTTHUMG00000021275	ENST00000379044.4:c.1112G>C	X.37:g.25028384C>G	ENSP00000368332:p.Arg371Pro						p.R371P	NM_139058.2	NP_620689.1	Q96QS3	ARX_HUMAN			3	1322	-			371						Missense_Mutation	SNP	ENST00000379044.4	37	c.1112G>C	CCDS14215.1	.	.	.	.	.	.	.	.	.	.	c	17.96	3.517142	0.64634	.	.	ENSG00000004848	ENST00000379044	D	0.96104	-3.91	4.68	4.68	0.58851	Homeodomain-related (1);Homeobox (3);Homeodomain-like (1);Homeobox, conserved site (1);	0.000000	0.64402	D	0.000001	D	0.98429	0.9477	H	0.95187	3.635	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	D	0.99855	1.1076	10	0.87932	D	0	.	17.2355	0.86997	0.0:1.0:0.0:0.0	.	371	Q96QS3	ARX_HUMAN	P	371	ENSP00000368332:R371P	ENSP00000368332:R371P	R	-	2	0	ARX	24938305	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	6.571000	0.74000	2.080000	0.62538	0.519000	0.50382	CGA		0.632	ARX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056109.1			32	11	0	0	0	1	0	32	11				
OR9Q2	219957	broad.mit.edu	37	11	57958040	57958040	+	Silent	SNP	T	T	A			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr11:57958040T>A	ENST00000311591.3	+	1	135	c.78T>A	c.(76-78)ccT>ccA	p.P26P		NM_001005283.2	NP_001005283.1	Q8NGE9	OR9Q2_HUMAN	olfactory receptor, family 9, subfamily Q, member 2	26						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|central_nervous_system(2)|endometrium(1)|large_intestine(3)|lung(24)|ovary(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	41		Breast(21;0.0589)				GGAGGGTTCCTCTCTTCCTCA	0.493																																						ENST00000311591.3																			0				breast(2)|central_nervous_system(2)|endometrium(1)|large_intestine(3)|lung(24)|ovary(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	41						c.(76-78)ccT>ccA		olfactory receptor, family 9, subfamily Q, member 2							117.0	106.0	110.0					11																	57958040		2201	4296	6497	SO:0001819	synonymous_variant	219957				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:57958040T>A	AB065859	CCDS31544.1	11q12.1	2012-08-09		2004-03-10	ENSG00000186513	ENSG00000186513		"""GPCR / Class A : Olfactory receptors"""	15328	protein-coding gene	gene with protein product				OR9Q2P			Standard	NM_001005283		Approved		uc010rka.2	Q8NGE9	OTTHUMG00000167414	ENST00000311591.3:c.78T>A	11.37:g.57958040T>A							p.P26P	NM_001005283.2	NP_001005283.1	Q8NGE9	OR9Q2_HUMAN			1	135	+		Breast(21;0.0589)	26						Silent	SNP	ENST00000311591.3	37	c.78T>A	CCDS31544.1																																																																																				0.493	OR9Q2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394540.1	NM_001005283		26	96	0	0	0	1	0	26	96				
PLPPR3	79948	broad.mit.edu	37	19	815258	815258	+	Missense_Mutation	SNP	C	C	T	rs202012376	byFrequency	TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr19:815258C>T	ENST00000520876.3	-	4	409	c.331G>A	c.(331-333)Ggg>Agg	p.G111R	MIR3187_ENST00000583431.1_RNA|LPPR3_ENST00000359894.2_Missense_Mutation_p.G111R	NM_001270366.1	NP_001257295.1	Q6T4P5	LPPR3_HUMAN		111						integral component of membrane (GO:0016021)	phosphatidate phosphatase activity (GO:0008195)										CCCTccgccccggcgggcccc	0.706													C|||	18	0.00359425	0.0008	0.0101	5008	,	,		14380	0.001		0.007	False		,,,				2504	0.002					ENST00000359894.2																			0											c.(331-333)Ggg>Agg				C	ARG/GLY	3,4265		0,3,2131	12.0	16.0	15.0		331	3.0	0.0	19		15	42,8380		0,42,4169	yes	missense	LPPR3	NM_024888.1	125	0,45,6300	TT,TC,CC		0.4987,0.0703,0.3546	benign	111/747	815258	45,12645	2134	4211	6345	SO:0001583	missense	79948					integral to membrane	phosphatidate phosphatase activity	g.chr19:815258C>T																												ENST00000520876.3:c.331G>A	19.37:g.815258C>T	ENSP00000430297:p.Gly111Arg					LPPR3_ENST00000520876.3_Missense_Mutation_p.G111R	p.G111R	NM_024888.2	NP_079164.1	Q6T4P5	LPPR3_HUMAN			4	394	-			111					Q86XQ4|Q96EH1|Q9BQF9|Q9HAJ4	Missense_Mutation	SNP	ENST00000520876.3	37	c.331G>A	CCDS58636.1	10	0.004578754578754579	0	0.0	4	0.011049723756906077	1	0.0017482517482517483	5	0.006596306068601583	C	7.209	0.594979	0.13875	7.03E-4	0.004987	ENSG00000129951	ENST00000300947;ENST00000359894;ENST00000520876;ENST00000521445	T;T	0.51574	0.7;0.7	4.33	3.02	0.34903	Phosphatidic acid phosphatase/chloroperoxidase, N-terminal (1);	0.282534	0.27640	U	0.018474	T	0.31482	0.0798	L	0.42245	1.32	0.09310	N	1	B;B;D	0.57257	0.214;0.136;0.979	B;B;P	0.46144	0.036;0.016;0.505	T	0.19257	-1.0311	10	0.48119	T	0.1	-14.1283	6.8273	0.23891	0.0:0.7633:0.0:0.2367	.	111;111;111	Q6T4P5-2;Q6T4P5;Q6T4P5-3	.;LPPR3_HUMAN;.	R	111	ENSP00000352962:G111R;ENSP00000430297:G111R	ENSP00000300947:G111R	G	-	1	0	AC006273.1	766258	0.603000	0.26924	0.024000	0.17045	0.009000	0.06853	1.944000	0.40263	1.952000	0.56665	0.462000	0.41574	GGG		0.706	LPPR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379096.3			3	33	0	0	0	1	0	3	33				
DNM1P47	100216544	broad.mit.edu	37	15	102305092	102305092	+	RNA	SNP	A	A	G			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr15:102305092A>G	ENST00000561463.1	+	0	13138									DNM1 pseudogene 47																		CATGAACACCATCAGCACAGC	0.632																																						ENST00000561463.1																			0																																																			100216544							g.chr15:102305092A>G	AJ576276		15q26.3	2013-04-25			ENSG00000259660	ENSG00000259660			35200	pseudogene	pseudogene				DNM1DN14@			Standard	NG_009149		Approved	DNM1DN14-3			OTTHUMG00000172265		15.37:g.102305092A>G														0	13138	+									RNA	SNP	ENST00000561463.1	37																																																																																						0.632	DNM1P47-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000417589.1	NG_009149		3	54	0	0	0	1	0	3	54				
CSMD3	114788	broad.mit.edu	37	8	113966914	113966914	+	Splice_Site	SNP	G	G	T			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr8:113966914G>T	ENST00000297405.5	-	8	1663	c.1419C>A	c.(1417-1419)atC>atA	p.I473I	CSMD3_ENST00000343508.3_Splice_Site_p.I433I|CSMD3_ENST00000352409.3_Splice_Site_p.I473I|CSMD3_ENST00000455883.2_Splice_Site_p.I369I	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	473						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						TACACTCACAGATAGAAAACT	0.313										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																												ENST00000297405.5																			0				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						c.e8+1		CUB and Sushi multiple domains 3							75.0	75.0	75.0					8																	113966914		2201	4297	6498	SO:0001630	splice_region_variant	114788					integral to membrane|plasma membrane		g.chr8:113966914G>T	AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.1420+1C>A	8.37:g.113966914G>T		HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_ENST00000343508.3_Splice_Site_p.I433_splice|CSMD3_ENST00000352409.3_Splice_Site_p.I473_splice|CSMD3_ENST00000455883.2_Splice_Site_p.I369_splice	p.I473_splice	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN			8	1663	-			473					Q96PZ3	Splice_Site	SNP	ENST00000297405.5	37	c.1420_splice	CCDS6315.1																																																																																				0.313	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900	Silent	27	35	1	0	7.92952e-12	1	8.81516e-12	27	35				
AMPH	273	broad.mit.edu	37	7	38466556	38466556	+	Missense_Mutation	SNP	G	G	T			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr7:38466556G>T	ENST00000356264.2	-	15	1428	c.1213C>A	c.(1213-1215)Cag>Aag	p.Q405K	AMPH_ENST00000471913.1_5'UTR|AMPH_ENST00000428293.2_Missense_Mutation_p.Q405K|AMPH_ENST00000325590.5_Missense_Mutation_p.Q405K	NM_001635.3	NP_001626.1	P49418	AMPH_HUMAN	amphiphysin	405					endocytosis (GO:0006897)|learning (GO:0007612)|synaptic transmission (GO:0007268)|synaptic vesicle endocytosis (GO:0048488)	actin cytoskeleton (GO:0015629)|cell junction (GO:0030054)|leading edge membrane (GO:0031256)|synaptic vesicle (GO:0008021)	phospholipid binding (GO:0005543)			breast(1)|endometrium(3)|kidney(3)|large_intestine(12)|liver(3)|lung(27)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)	62						TTCCTTACCTGTGTGAATCCA	0.348																																						ENST00000356264.2																			0				breast(1)|endometrium(3)|kidney(3)|large_intestine(12)|liver(3)|lung(27)|ovary(3)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)	62						c.(1213-1215)Cag>Aag		amphiphysin							142.0	136.0	138.0					7																	38466556		2203	4300	6503	SO:0001583	missense	273				endocytosis|synaptic transmission	actin cytoskeleton|cell junction|synaptic vesicle membrane		g.chr7:38466556G>T		CCDS5456.1, CCDS47574.1	7p14-p13	2007-06-19	2007-06-19		ENSG00000078053	ENSG00000078053			471	protein-coding gene	gene with protein product		600418	"""amphiphysin (Stiff-Mann syndrome with breast cancer 128kD autoantigen)"", ""amphiphysin (Stiff-Man syndrome with breast cancer 128kDa autoantigen)"""			8245793	Standard	NM_139316		Approved		uc003tgu.3	P49418	OTTHUMG00000023725	ENST00000356264.2:c.1213C>A	7.37:g.38466556G>T	ENSP00000348602:p.Gln405Lys					AMPH_ENST00000428293.2_Missense_Mutation_p.Q405K|AMPH_ENST00000325590.5_Missense_Mutation_p.Q405K|AMPH_ENST00000471913.1_5'UTR	p.Q405K	NM_001635.3	NP_001626.1	P49418	AMPH_HUMAN			15	1428	-			405					A4D1X8|A4D1X9|O43538|Q75MJ8|Q75MK5|Q75MM3|Q8N4G0	Missense_Mutation	SNP	ENST00000356264.2	37	c.1213C>A	CCDS5456.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	21.5|21.5	4.160945|4.160945	0.78226|0.78226	.|.	.|.	ENSG00000078053|ENSG00000078053	ENST00000325590;ENST00000356264;ENST00000428293;ENST00000353242;ENST00000421537|ENST00000441628	T;T;T|T	0.59906|0.47177	0.28;0.23;0.25|0.85	5.53|5.53	5.53|5.53	0.82687|0.82687	.|.	0.374634|.	0.27327|.	N|.	0.019872|.	T|T	0.58892|0.58892	0.2154|0.2154	L|L	0.50333|0.50333	1.59|1.59	0.40938|0.40938	D|D	0.984442|0.984442	D;D;D;D|.	0.89917|.	1.0;0.988;0.983;0.969|.	D;P;P;D|.	0.87578|.	0.998;0.794;0.701;0.93|.	T|T	0.53809|0.53809	-0.8386|-0.8386	10|6	0.14656|.	T|.	0.56|.	17.1005|17.1005	19.465|19.465	0.94934|0.94934	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	493;405;405;335|.	Q8NFL6;P49418-2;P49418;Q8NFL4|.	.;.;AMPH_HUMAN;.|.	K|K	405;405;405;349;172|329	ENSP00000317441:Q405K;ENSP00000348602:Q405K;ENSP00000390734:Q405K|ENSP00000415085:T329K	ENSP00000317441:Q405K|.	Q|T	-|-	1|2	0|0	AMPH|AMPH	38433081|38433081	1.000000|1.000000	0.71417|0.71417	0.988000|0.988000	0.46212|0.46212	0.857000|0.857000	0.48899|0.48899	6.871000|6.871000	0.75531|0.75531	2.600000|2.600000	0.87896|0.87896	0.563000|0.563000	0.77884|0.77884	CAG|ACA		0.348	AMPH-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000226953.2	NM_001635		36	45	1	0	6.4771e-29	1	8.45183e-29	36	45				
MAGEL2	54551	broad.mit.edu	37	15	23889926	23889926	+	Silent	SNP	A	A	G	rs555378546		TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr15:23889926A>G	ENST00000532292.1	-	1	1249	c.1155T>C	c.(1153-1155)tcT>tcC	p.S385S		NM_019066.4	NP_061939.3	Q9UJ55	MAGL2_HUMAN	MAGE-like 2	268	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.				Arp2/3 complex-mediated actin nucleation (GO:0034314)|protein K63-linked ubiquitination (GO:0070534)|retrograde transport, endosome to Golgi (GO:0042147)	endosome (GO:0005768)	ubiquitin-protein transferase activity (GO:0004842)			breast(1)|endometrium(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)		all cancers(64;1.84e-06)|Epithelial(43;1.2e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177)		CTACGGGCAGAGAGCTCCCTG	0.637													A|||	1	0.000199681	0.0	0.0	5008	,	,		17211	0.0		0.0	False		,,,				2504	0.001					ENST00000532292.1																			0				breast(1)|endometrium(1)|large_intestine(2)|lung(2)|upper_aerodigestive_tract(1)	7						c.(1153-1155)tcT>tcC		MAGE-like 2							33.0	34.0	34.0					15																	23889926		1904	4123	6027	SO:0001819	synonymous_variant	54551							g.chr15:23889926A>G	AJ243531	CCDS73700.1	15q11-q12	2008-07-18				ENSG00000254585			6814	protein-coding gene	gene with protein product		605283		NDNL1		10556298	Standard	NM_019066		Approved	nM15	uc001ywj.4	Q9UJ55		ENST00000532292.1:c.1155T>C	15.37:g.23889926A>G							p.S385S	NM_019066.4	NP_061939.3				all cancers(64;1.84e-06)|Epithelial(43;1.2e-05)|BRCA - Breast invasive adenocarcinoma(123;0.00177)	1	1249	-		all_cancers(20;1.78e-24)|all_epithelial(15;7.75e-22)|Lung NSC(15;2.96e-18)|all_lung(15;2.8e-17)|Breast(32;0.000625)|Colorectal(260;0.14)							Silent	SNP	ENST00000532292.1	37	c.1155T>C		.	.	.	.	.	.	.	.	.	.	A	0.200	-1.045309	0.01997	.	.	ENSG00000254585	ENST00000532292	T	0.05199	3.48	3.76	-0.0012	0.14035	.	.	.	.	.	T	0.04952	0.0133	.	.	.	0.09310	N	0.999993	.	.	.	.	.	.	T	0.45848	-0.9233	5	.	.	.	.	6.0336	0.19694	0.5981:0.0:0.4019:0.0	.	.	.	.	P	417	ENSP00000433433:L417P	.	L	-	2	0	MAGEL2	21441019	0.008000	0.16893	0.003000	0.11579	0.006000	0.05464	-0.163000	0.09997	-0.015000	0.14150	0.533000	0.62120	CTC		0.637	MAGEL2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000395182.2	NM_019066		15	71	0	0	0	1	0	15	71				
HDGFL1	154150	broad.mit.edu	37	6	22570200	22570200	+	Silent	SNP	G	G	T			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr6:22570200G>T	ENST00000230012.3	+	1	523	c.396G>T	c.(394-396)ccG>ccT	p.P132P	HDGFL1_ENST00000510882.2_Silent_p.P132P	NM_138574.2	NP_612641.2	Q5TGJ6	HDGL1_HUMAN	hepatoma derived growth factor-like 1	132										kidney(1)|large_intestine(3)|lung(7)	11	Ovarian(93;0.163)					TGGGGAAGCCGGACGACGACA	0.731																																						ENST00000510882.2																			0				kidney(1)|large_intestine(3)|lung(7)	11						c.(394-396)ccG>ccT		hepatoma derived growth factor-like 1							7.0	6.0	7.0					6																	22570200		2004	4009	6013	SO:0001819	synonymous_variant	154150							g.chr6:22570200G>T	AK056824	CCDS34347.1	6p22.2	2008-02-05	2005-04-07	2005-04-07	ENSG00000112273	ENSG00000112273			21095	protein-coding gene	gene with protein product			"""PWWP domain containing 1"""	PWWP1			Standard	NM_138574		Approved	dJ309H15.1	uc003nds.3	Q5TGJ6	OTTHUMG00000016206	ENST00000230012.3:c.396G>T	6.37:g.22570200G>T						HDGFL1_ENST00000230012.3_Silent_p.P132P	p.P132P			Q5TGJ6	HDGL1_HUMAN			1	406	+	Ovarian(93;0.163)		132					Q96MJ6	Silent	SNP	ENST00000230012.3	37	c.396G>T	CCDS34347.1																																																																																				0.731	HDGFL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043500.1	NM_138574		4	6	1	0	0.00909568	1	0.00915988	4	6				
PLA2G4C	8605	broad.mit.edu	37	19	48608658	48608658	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr19:48608658C>T	ENST00000599921.1	-	3	409	c.52G>A	c.(52-54)Gcg>Acg	p.A18T	PLA2G4C_ENST00000413144.2_Missense_Mutation_p.A18T|PLA2G4C_ENST00000599111.1_Missense_Mutation_p.A28T|PLA2G4C_ENST00000354276.3_Missense_Mutation_p.A18T			Q9UP65	PA24C_HUMAN	phospholipase A2, group IVC (cytosolic, calcium-independent)	18	PLA2c. {ECO:0000255|PROSITE- ProRule:PRU00555}.				arachidonic acid metabolic process (GO:0019369)|glycerophospholipid biosynthetic process (GO:0046474)|glycerophospholipid catabolic process (GO:0046475)|inflammatory response (GO:0006954)|intracellular signal transduction (GO:0035556)|parturition (GO:0007567)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylinositol acyl-chain remodeling (GO:0036149)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	cell cortex (GO:0005938)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nucleoplasm (GO:0005654)	calcium-independent phospholipase A2 activity (GO:0047499)|phospholipid binding (GO:0005543)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(12)|lung(13)|ovary(2)|prostate(1)|skin(3)	38		all_cancers(25;2.84e-05)|all_lung(116;4.62e-05)|Lung NSC(112;7.61e-05)|all_epithelial(76;0.000192)|all_neural(266;0.0506)|Ovarian(192;0.113)		OV - Ovarian serous cystadenocarcinoma(262;8.09e-05)|all cancers(93;0.000517)|Epithelial(262;0.0135)|GBM - Glioblastoma multiforme(486;0.0717)		TCCACGGCCGCCTTTTCTTCT	0.483																																						ENST00000354276.3																			0				breast(1)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(12)|lung(13)|ovary(2)|prostate(1)|skin(3)	38						c.(52-54)Gcg>Acg		phospholipase A2, group IVC (cytosolic, calcium-independent)							95.0	108.0	104.0					19																	48608658		2203	4300	6503	SO:0001583	missense	8605				arachidonic acid metabolic process|glycerophospholipid catabolic process|inflammatory response|intracellular signal transduction|parturition	cytosol|membrane	calcium-independent phospholipase A2 activity|phospholipid binding	g.chr19:48608658C>T	AF065214	CCDS12710.1, CCDS54286.1, CCDS59403.1	19q13.3	2008-09-19					3.1.1.4		9037	protein-coding gene	gene with protein product		603602				9705332	Standard	NM_003706		Approved	cPLA2-gamma	uc002phx.3	Q9UP65		ENST00000599921.1:c.52G>A	19.37:g.48608658C>T	ENSP00000469473:p.Ala18Thr					PLA2G4C_ENST00000599921.1_Missense_Mutation_p.A18T|PLA2G4C_ENST00000599111.1_Missense_Mutation_p.A28T|PLA2G4C_ENST00000413144.2_Missense_Mutation_p.A18T	p.A18T	NM_001159323.1	NP_001152795.1	Q9UP65	PA24C_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;8.09e-05)|all cancers(93;0.000517)|Epithelial(262;0.0135)|GBM - Glioblastoma multiforme(486;0.0717)	3	379	-		all_cancers(25;2.84e-05)|all_lung(116;4.62e-05)|Lung NSC(112;7.61e-05)|all_epithelial(76;0.000192)|all_neural(266;0.0506)|Ovarian(192;0.113)	18			PLA2c.		B2RB71|B4DI40|O75457|Q6IBI8|Q9UG68	Missense_Mutation	SNP	ENST00000599921.1	37	c.52G>A	CCDS12710.1	.	.	.	.	.	.	.	.	.	.	C	11.02	1.516213	0.27123	.	.	ENSG00000105499	ENST00000354276;ENST00000413144	T;T	0.04502	3.61;3.61	2.72	1.67	0.24075	Acyl transferase/acyl hydrolase/lysophospholipase (1);Lysophospholipase, catalytic domain (2);	1.346960	0.05590	N	0.574519	T	0.04770	0.0129	L	0.45470	1.425	0.09310	N	1	P;P;P	0.40144	0.704;0.704;0.704	B;B;B	0.36030	0.216;0.163;0.213	T	0.36212	-0.9757	10	0.15066	T	0.55	0.0523	4.8823	0.13686	0.0:0.8209:0.0:0.1791	.	28;18;18	B4DI40;Q8WWC5;Q9UP65	.;.;PA24C_HUMAN	T	18	ENSP00000346228:A18T;ENSP00000400036:A18T	ENSP00000346228:A18T	A	-	1	0	PLA2G4C	53300470	0.037000	0.19845	0.090000	0.20809	0.053000	0.15095	1.118000	0.31246	1.521000	0.48983	0.205000	0.17691	GCG		0.483	PLA2G4C-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000465551.1			137	212	0	0	0	1	0	137	212				
SOX21	11166	broad.mit.edu	37	13	95364236	95364236	+	Missense_Mutation	SNP	C	C	A			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr13:95364236C>A	ENST00000376945.2	-	1	153	c.68G>T	c.(67-69)cGg>cTg	p.R23L	SOX21-AS1_ENST00000438290.2_lincRNA	NM_007084.2	NP_009015.1	Q9Y651	SOX21_HUMAN	SRY (sex determining region Y)-box 21	23					hair follicle development (GO:0001942)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|stem cell differentiation (GO:0048863)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)			large_intestine(3)|lung(1)|prostate(1)|skin(1)	6	all_neural(89;0.0646)|Medulloblastoma(90;0.163)					CATCTTGCGCCGCTGAGCCCG	0.667																																						ENST00000376945.2																			0				large_intestine(3)|lung(1)|prostate(1)|skin(1)	6						c.(67-69)cGg>cTg		SRY (sex determining region Y)-box 21							63.0	62.0	63.0					13																	95364236		2203	4300	6503	SO:0001583	missense	11166				regulation of transcription from RNA polymerase II promoter|stem cell differentiation	nucleus	DNA binding|sequence-specific DNA binding RNA polymerase II transcription factor activity	g.chr13:95364236C>A	AF107044	CCDS9473.1	13q31-q32	2008-07-18			ENSG00000125285	ENSG00000125285		"""SRY (sex determining region Y)-boxes"""	11197	protein-coding gene	gene with protein product	"""SRY-box 21"""	604974				10441749	Standard	NM_007084		Approved	SOX25	uc001vma.3	Q9Y651	OTTHUMG00000017209	ENST00000376945.2:c.68G>T	13.37:g.95364236C>A	ENSP00000366144:p.Arg23Leu						p.R23L	NM_007084.2	NP_009015.1	Q9Y651	SOX21_HUMAN			1	153	-	all_neural(89;0.0646)|Medulloblastoma(90;0.163)		23					P35715|Q15504|Q5TBS1	Missense_Mutation	SNP	ENST00000376945.2	37	c.68G>T	CCDS9473.1	.	.	.	.	.	.	.	.	.	.	C	19.29	3.800035	0.70567	.	.	ENSG00000125285	ENST00000376945	D	0.98567	-5.0	3.42	1.64	0.23874	High mobility group, superfamily (1);High mobility group, HMG1/HMG2 (4);	0.000000	0.64402	U	0.000003	D	0.99211	0.9726	H	0.98446	4.235	0.58432	D	0.999999	D	0.89917	1.0	D	0.85130	0.997	D	0.98175	1.0454	10	0.87932	D	0	.	8.2077	0.31465	0.0:0.7898:0.0:0.2102	.	23	Q9Y651	SOX21_HUMAN	L	23	ENSP00000366144:R23L	ENSP00000366144:R23L	R	-	2	0	SOX21	94162237	1.000000	0.71417	0.996000	0.52242	0.974000	0.67602	7.397000	0.79903	0.103000	0.17682	-0.339000	0.08088	CGG		0.667	SOX21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045467.4	NM_007084		37	106	1	0	1.56738e-10	1	1.70696e-10	37	106				
OR51V1	283111	broad.mit.edu	37	11	5221368	5221368	+	Missense_Mutation	SNP	C	C	G			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr11:5221368C>G	ENST00000321255.1	-	1	562	c.563G>C	c.(562-564)tGc>tCc	p.C188S		NM_001004760.2	NP_001004760.2	Q9H2C8	O51V1_HUMAN	olfactory receptor, family 51, subfamily V, member 1	188					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|kidney(2)|large_intestine(13)|lung(19)|skin(2)|upper_aerodigestive_tract(2)	39		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.83e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		CTGGTGCAGGCAGAAAGAGTG	0.398																																						ENST00000321255.1																			0				endometrium(1)|kidney(2)|large_intestine(13)|lung(19)|skin(2)|upper_aerodigestive_tract(2)	39						c.(562-564)tGc>tCc		olfactory receptor, family 51, subfamily V, member 1							50.0	50.0	50.0					11																	5221368		2201	4297	6498	SO:0001583	missense	283111				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5221368C>G	BK004432	CCDS31375.1	11p15.4	2012-08-09			ENSG00000176742	ENSG00000176742		"""GPCR / Class A : Olfactory receptors"""	19597	protein-coding gene	gene with protein product				OR51A12			Standard	NM_001004760		Approved		uc010qyz.2	Q9H2C8	OTTHUMG00000066671	ENST00000321255.1:c.563G>C	11.37:g.5221368C>G	ENSP00000321729:p.Cys188Ser						p.C188S	NM_001004760.2	NP_001004760.2	Q9H2C8	O51V1_HUMAN		Epithelial(150;2.83e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	562	-		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)	188						Missense_Mutation	SNP	ENST00000321255.1	37	c.563G>C	CCDS31375.1	.	.	.	.	.	.	.	.	.	.	C	18.90	3.721101	0.68959	.	.	ENSG00000176742	ENST00000321255	T	0.62364	0.03	5.27	4.36	0.52297	GPCR, rhodopsin-like superfamily (1);	0.000000	0.56097	D	0.000025	D	0.87160	0.6108	H	0.99249	4.485	0.46901	D	0.999246	D	0.89917	1.0	D	0.91635	0.999	D	0.91496	0.5215	10	0.87932	D	0	.	12.7234	0.57154	0.0:0.9203:0.0:0.0797	.	188	Q9H2C8	O51V1_HUMAN	S	188	ENSP00000321729:C188S	ENSP00000321729:C188S	C	-	2	0	OR51V1	5177944	0.990000	0.36364	1.000000	0.80357	0.810000	0.45777	2.881000	0.48538	1.462000	0.47948	0.655000	0.94253	TGC		0.398	OR51V1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142965.1	NM_001004760		30	84	0	0	0	1	0	30	84				
ANKRD30B	374860	broad.mit.edu	37	18	14752569	14752569	+	Missense_Mutation	SNP	G	G	C			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr18:14752569G>C	ENST00000358984.4	+	2	406	c.226G>C	c.(226-228)Gct>Cct	p.A76P	ANKRD30B_ENST00000447268.2_Missense_Mutation_p.A76P|ANKRD30B_ENST00000579292.1_Intron	NM_001145029.1	NP_001138501.1	Q9BXX2	AN30B_HUMAN	ankyrin repeat domain 30B	76										breast(3)|endometrium(4)|kidney(3)|lung(8)|ovary(1)|prostate(2)|skin(1)	22						TCGTAGGACTGCTCTACACTG	0.438																																						ENST00000358984.4																			0				breast(3)|endometrium(4)|kidney(3)|lung(8)|ovary(1)|prostate(2)|skin(1)	22						c.(226-228)Gct>Cct		ankyrin repeat domain 30B							60.0	52.0	55.0					18																	14752569		692	1591	2283	SO:0001583	missense	374860							g.chr18:14752569G>C	BC028407	CCDS54182.1	18p11.21	2013-01-10			ENSG00000180777	ENSG00000180777		"""Ankyrin repeat domain containing"""	24165	protein-coding gene	gene with protein product						11280766	Standard	NM_001145029		Approved	NY-BR-1.1	uc010dlo.2	Q9BXX2		ENST00000358984.4:c.226G>C	18.37:g.14752569G>C	ENSP00000351875:p.Ala76Pro					ANKRD30B_ENST00000579292.1_Intron|ANKRD30B_ENST00000447268.2_Missense_Mutation_p.A76P	p.A76P	NM_001145029.1	NP_001138501.1	Q9BXX2	AN30B_HUMAN			2	406	+			76					B4DGP1|F8WAG3|Q4G175	Missense_Mutation	SNP	ENST00000358984.4	37	c.226G>C	CCDS54182.1	.	.	.	.	.	.	.	.	.	.	N	7.021	0.558758	0.13436	.	.	ENSG00000180777	ENST00000358984;ENST00000447268	T;T	0.61392	0.11;0.11	1.63	1.63	0.23807	.	.	.	.	.	T	0.53642	0.1809	N	0.13198	0.31	0.34651	D	0.72169	D	0.76494	0.999	D	0.76575	0.988	T	0.60078	-0.7333	9	0.40728	T	0.16	.	6.6992	0.23215	0.0:0.0:1.0:0.0	.	76	F8WAG3	.	P	76	ENSP00000351875:A76P;ENSP00000399031:A76P	ENSP00000351875:A76P	A	+	1	0	ANKRD30B	14742569	0.647000	0.27304	0.899000	0.35326	0.085000	0.17905	0.681000	0.25320	1.218000	0.43458	0.290000	0.19541	GCT		0.438	ANKRD30B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000443557.1	NM_001145029		12	85	0	0	0	1	0	12	85				
KIAA0907	22889	broad.mit.edu	37	1	155899517	155899517	+	Missense_Mutation	SNP	G	G	T			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr1:155899517G>T	ENST00000368321.3	-	3	393	c.370C>A	c.(370-372)Cag>Aag	p.Q124K	KIAA0907_ENST00000368319.3_Missense_Mutation_p.Q124K|KIAA0907_ENST00000368320.3_Missense_Mutation_p.Q124K|KIAA0907_ENST00000482337.1_5'UTR	NM_014949.2	NP_055764.2	Q7Z7F0	K0907_HUMAN	KIAA0907	124							RNA binding (GO:0003723)			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|urinary_tract(1)	21	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		OV - Ovarian serous cystadenocarcinoma(3;8.82e-06)			TCTTGAGTCTGTCCTCGAGTC	0.458																																						ENST00000368320.3																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|urinary_tract(1)	21						c.(370-372)Cag>Aag		KIAA0907							148.0	131.0	137.0					1																	155899517		2203	4300	6503	SO:0001583	missense	22889							g.chr1:155899517G>T	BC062637	CCDS30885.1	1q22	2012-11-30			ENSG00000132680	ENSG00000132680			29145	protein-coding gene	gene with protein product						10048485	Standard	NM_014949		Approved	BLOM7	uc001fmi.1	Q7Z7F0	OTTHUMG00000014103	ENST00000368321.3:c.370C>A	1.37:g.155899517G>T	ENSP00000357304:p.Gln124Lys					KIAA0907_ENST00000368319.3_Missense_Mutation_p.Q124K|KIAA0907_ENST00000368321.3_Missense_Mutation_p.Q124K|KIAA0907_ENST00000482337.1_5'UTR	p.Q124K			Q7Z7F0	K0907_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;8.82e-06)		3	395	-	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		124					O94981|Q7L7Q2|Q7Z7E9|Q8TBQ0	Missense_Mutation	SNP	ENST00000368321.3	37	c.370C>A	CCDS30885.1	.	.	.	.	.	.	.	.	.	.	G	19.10	3.762854	0.69763	.	.	ENSG00000132680	ENST00000368321;ENST00000368320;ENST00000368319	T;T;T	0.39592	1.07;1.07;1.07	5.02	5.02	0.67125	.	0.000000	0.85682	D	0.000000	T	0.28499	0.0705	L	0.56769	1.78	0.80722	D	1	B;B;B;B;P;B	0.39535	0.03;0.181;0.408;0.074;0.677;0.03	B;B;B;B;B;B	0.39771	0.008;0.125;0.119;0.043;0.309;0.02	T	0.08764	-1.0706	10	0.11794	T	0.64	-6.6226	18.4812	0.90812	0.0:0.0:1.0:0.0	.	124;124;124;124;124;124	D3DVA4;Q7Z7F0-4;A8K1I7;Q7Z7F0-3;Q7Z7F0-2;Q7Z7F0	.;.;.;.;.;K0907_HUMAN	K	124	ENSP00000357304:Q124K;ENSP00000357303:Q124K;ENSP00000357302:Q124K	ENSP00000357302:Q124K	Q	-	1	0	KIAA0907	154166141	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	9.235000	0.95353	2.767000	0.95098	0.563000	0.77884	CAG		0.458	KIAA0907-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039583.1	NM_014949		39	83	1	0	8.69298e-16	1	1.03064e-15	39	83				
KIAA1715	80856	broad.mit.edu	37	2	176812271	176812271	+	Missense_Mutation	SNP	C	C	A			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr2:176812271C>A	ENST00000272748.4	-	9	890	c.643G>T	c.(643-645)Gcc>Tcc	p.A215S	KIAA1715_ENST00000535310.1_Missense_Mutation_p.A140S|KIAA1715_ENST00000544803.1_Missense_Mutation_p.A215S	NM_030650.1	NP_085153.1	Q9C0E8	LNP_HUMAN	KIAA1715	215	Pro-rich.				blood coagulation (GO:0007596)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|limb development (GO:0060173)|regulation of chondrocyte differentiation (GO:0032330)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	metal ion binding (GO:0046872)			endometrium(1)|large_intestine(4)|lung(12)|ovary(2)|skin(1)	20			OV - Ovarian serous cystadenocarcinoma(117;0.0793)			GATGATAGGGCTGGAGTAACA	0.483																																						ENST00000272748.4																			0				endometrium(1)|large_intestine(4)|lung(12)|ovary(2)|skin(1)	20						c.(643-645)Gcc>Tcc		KIAA1715							119.0	119.0	119.0					2																	176812271		2203	4300	6503	SO:0001583	missense	80856					integral to membrane	protein binding	g.chr2:176812271C>A	AB051502	CCDS33332.1	2q31	2014-06-27			ENSG00000144320	ENSG00000144320			21610	protein-coding gene	gene with protein product	"""lunapark"", ""limb and neural patterns"""	610236				11214970, 22729086	Standard	NM_030650		Approved	ulnaless, Ul, LNP1, LNP	uc002ukc.1	Q9C0E8	OTTHUMG00000154112	ENST00000272748.4:c.643G>T	2.37:g.176812271C>A	ENSP00000272748:p.Ala215Ser					KIAA1715_ENST00000535310.1_Missense_Mutation_p.A140S|KIAA1715_ENST00000544803.1_Missense_Mutation_p.A215S	p.A215S	NM_030650.1	NP_085153.1	Q9C0E8	LNP_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.0793)		9	890	-			215			Pro-rich.		B7ZLA8|Q2M2V8|Q2YD99|Q658W8|Q8N5V9|Q96MS5	Missense_Mutation	SNP	ENST00000272748.4	37	c.643G>T	CCDS33332.1	.	.	.	.	.	.	.	.	.	.	C	9.988	1.229935	0.22542	.	.	ENSG00000144320	ENST00000272748;ENST00000536291;ENST00000409660;ENST00000544803;ENST00000535310	.	.	.	5.66	3.82	0.43975	.	0.311898	0.38897	N	0.001532	T	0.32376	0.0827	N	0.16130	0.375	0.43982	D	0.996675	B;B;B;B	0.26318	0.146;0.126;0.037;0.017	B;B;B;B	0.26969	0.075;0.032;0.025;0.012	T	0.14227	-1.0480	9	0.87932	D	0	-0.0077	5.7868	0.18338	0.2936:0.5604:0.0:0.146	.	217;215;212;215	F5H2Y7;B7ZLA8;B7ZLA9;Q9C0E8	.;.;.;LNP_HUMAN	S	215;217;92;215;140	.	ENSP00000272748:A215S	A	-	1	0	KIAA1715	176520517	1.000000	0.71417	0.930000	0.37139	0.676000	0.39594	1.509000	0.35780	0.711000	0.32018	0.655000	0.94253	GCC		0.483	KIAA1715-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333949.3	XM_042834		69	106	1	0	2.54232e-27	1	3.30733e-27	69	106				
SCFD2	152579	broad.mit.edu	37	4	54231626	54231626	+	Silent	SNP	G	G	T			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr4:54231626G>T	ENST00000401642.3	-	1	616	c.483C>A	c.(481-483)gcC>gcA	p.A161A	SCFD2_ENST00000388940.4_Silent_p.A161A	NM_152540.3	NP_689753.2	Q8WU76	SCFD2_HUMAN	sec1 family domain containing 2	161					protein transport (GO:0015031)|vesicle docking involved in exocytosis (GO:0006904)					breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	30			GBM - Glioblastoma multiforme(3;1.07e-26)|LUSC - Lung squamous cell carcinoma(32;0.0134)			GAGCAACAGGGGCAAGCAATA	0.567																																						ENST00000401642.3																			0				breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	30						c.(481-483)gcC>gcA		sec1 family domain containing 2							86.0	73.0	77.0					4																	54231626		2203	4300	6503	SO:0001819	synonymous_variant	152579				protein transport|vesicle docking involved in exocytosis			g.chr4:54231626G>T	AY299407	CCDS33984.1	4q12	2004-01-15			ENSG00000184178	ENSG00000184178			30676	protein-coding gene	gene with protein product						12477932	Standard	NM_152540		Approved	STXBP1L1, FLJ39514	uc003gzu.3	Q8WU76	OTTHUMG00000160588	ENST00000401642.3:c.483C>A	4.37:g.54231626G>T						SCFD2_ENST00000388940.4_Silent_p.A161A	p.A161A	NM_152540.3	NP_689753.2	Q8WU76	SCFD2_HUMAN	GBM - Glioblastoma multiforme(3;1.07e-26)|LUSC - Lung squamous cell carcinoma(32;0.0134)		1	616	-			161					Q8N5F3|Q8N8H0|Q96ED3	Silent	SNP	ENST00000401642.3	37	c.483C>A	CCDS33984.1																																																																																				0.567	SCFD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361311.3	NM_152540		17	111	1	0	5.3912e-06	1	5.60057e-06	17	111				
METTL20	254013	broad.mit.edu	37	12	31815160	31815160	+	Silent	SNP	T	T	C			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr12:31815160T>C	ENST00000357721.3	+	2	488	c.273T>C	c.(271-273)ccT>ccC	p.P91P	METTL20_ENST00000412352.2_Silent_p.P91P|METTL20_ENST00000395763.3_Silent_p.P91P|METTL20_ENST00000538391.1_Silent_p.P91P|METTL20_ENST00000538463.1_Silent_p.P91P	NM_001135863.1	NP_001129335.1	Q8IXQ9	MET20_HUMAN	methyltransferase like 20	91						cytoplasm (GO:0005737)	protein methyltransferase activity (GO:0008276)			lung(2)|stomach(1)	3						ACAGTGATCCTTACTGGGCAA	0.537																																						ENST00000357721.3																			0				lung(2)|stomach(1)	3						c.(271-273)ccT>ccC		methyltransferase like 20							66.0	70.0	69.0					12																	31815160		2203	4300	6503	SO:0001819	synonymous_variant	254013					cytoplasm	protein methyltransferase activity	g.chr12:31815160T>C	BC039535	CCDS8724.1	12p11.21	2011-03-03	2011-03-03	2011-03-03	ENSG00000139160	ENSG00000139160			28739	protein-coding gene	gene with protein product		615256	"""chromosome 12 open reading frame 72"""	C12orf72			Standard	NM_173802		Approved	DKFZp451L235, MGC50559	uc001rkm.3	Q8IXQ9		ENST00000357721.3:c.273T>C	12.37:g.31815160T>C						METTL20_ENST00000538463.1_Silent_p.P91P|METTL20_ENST00000538391.1_Silent_p.P91P|METTL20_ENST00000412352.2_Silent_p.P91P|METTL20_ENST00000395763.3_Silent_p.P91P	p.P91P	NM_001135863.1	NP_001129335.1	Q8IXQ9	MET20_HUMAN			2	488	+			91					D3DUW3	Silent	SNP	ENST00000357721.3	37	c.273T>C	CCDS8724.1																																																																																				0.537	METTL20-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402196.1	NM_173802		33	169	0	0	0	1	0	33	169				
KIAA2022	340533	broad.mit.edu	37	X	73962996	73962996	+	Missense_Mutation	SNP	C	C	A			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chrX:73962996C>A	ENST00000055682.6	-	3	2007	c.1396G>T	c.(1396-1398)Gac>Tac	p.D466Y		NM_001008537.2	NP_001008537.1	Q5QGS0	K2022_HUMAN	KIAA2022	466					base-excision repair, gap-filling (GO:0006287)|DNA replication proofreading (GO:0045004)|DNA replication, removal of RNA primer (GO:0043137)|nervous system development (GO:0007399)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleotide-excision repair, DNA gap filling (GO:0006297)|regulation of mitotic cell cycle (GO:0007346)	delta DNA polymerase complex (GO:0043625)|nucleus (GO:0005634)	3'-5' exonuclease activity (GO:0008408)|DNA-directed DNA polymerase activity (GO:0003887)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						GAATTAGTGTCCCGAGCCATA	0.453																																						ENST00000373468.1																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(23)|liver(1)|lung(41)|ovary(7)|pancreas(2)|prostate(4)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	109						c.(1396-1398)Gac>Tac		KIAA2022							69.0	52.0	58.0					X																	73962996		2203	4300	6503	SO:0001583	missense	340533				base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|S phase of mitotic cell cycle	delta DNA polymerase complex	3'-5'-exodeoxyribonuclease activity|DNA-directed DNA polymerase activity	g.chrX:73962996C>A		CCDS35337.1	Xq13.3	2014-02-19			ENSG00000050030	ENSG00000050030			29433	protein-coding gene	gene with protein product	"""XLMR-related protein, neurite extension"""	300524				15466006, 23615299	Standard	NM_001008537		Approved	XPN, MRX98	uc004eby.3	Q5QGS0	OTTHUMG00000021860	ENST00000055682.6:c.1396G>T	X.37:g.73962996C>A	ENSP00000055682:p.Asp466Tyr					KIAA2022_ENST00000055682.5_Missense_Mutation_p.D466Y	p.D466Y			Q5QGS0	K2022_HUMAN			3	2047	-			466					A7YY87|Q5JUX9|Q8IVE9	Missense_Mutation	SNP	ENST00000055682.6	37	c.1396G>T	CCDS35337.1	.	.	.	.	.	.	.	.	.	.	C	14.67	2.605711	0.46527	.	.	ENSG00000050030	ENST00000373468;ENST00000055682	T;T	0.34275	1.37;1.37	6.03	5.17	0.71159	.	0.555807	0.20474	N	0.091630	T	0.44623	0.1302	L	0.36672	1.1	0.40148	D	0.976919	P	0.51537	0.946	P	0.55161	0.77	T	0.43798	-0.9369	10	0.72032	D	0.01	-2.6555	14.2623	0.66092	0.0:0.9273:0.0:0.0727	.	466	Q5QGS0	K2022_HUMAN	Y	466	ENSP00000362567:D466Y;ENSP00000055682:D466Y	ENSP00000055682:D466Y	D	-	1	0	KIAA2022	73879721	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	3.798000	0.55522	1.293000	0.44690	0.600000	0.82982	GAC		0.453	KIAA2022-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057270.2	NM_001008537		58	14	1	0	9.72345e-25	1	1.24228e-24	58	14				
KRTAP4-9	100132386	broad.mit.edu	37	17	39262015	39262015	+	Silent	SNP	T	T	C	rs376253266		TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr17:39262015T>C	ENST00000391415.1	+	1	432	c.375T>C	c.(373-375)tgT>tgC	p.C125C		NM_001146041.1	NP_001139513.1	Q9BYQ8	KRA49_HUMAN	keratin associated protein 4-9	125	29 X 5 AA repeats of C-C-[RQVHIEK]- [SPTR]-[VSTQCRNP].				aging (GO:0007568)|hair cycle (GO:0042633)	keratin filament (GO:0045095)				central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|urinary_tract(3)	14						ccagctgctgtcgccccagct	0.662																																						ENST00000391415.1																			0				central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|urinary_tract(3)	14						c.(373-375)tgT>tgC		keratin associated protein 4-9							16.0	22.0	20.0					17																	39262015		691	1590	2281	SO:0001819	synonymous_variant	100132386					keratin filament		g.chr17:39262015T>C	AJ406941	CCDS54124.1	17q21.2	2013-06-25			ENSG00000212722	ENSG00000212722		"""Keratin associated proteins"""	18910	protein-coding gene	gene with protein product							Standard	NM_001146041		Approved	KAP4.9	uc010wfp.2	Q9BYQ8	OTTHUMG00000133584	ENST00000391415.1:c.375T>C	17.37:g.39262015T>C							p.C125C	NM_001146041.1	NP_001139513.1	Q9BYQ8	KRA49_HUMAN			1	432	+			125			29 X 5 AA repeats of C-C-[RQVHIEK]- [SPTR]-[VSTQCRNP].			Silent	SNP	ENST00000391415.1	37	c.375T>C	CCDS54124.1																																																																																				0.662	KRTAP4-9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257688.1	NM_001146041		5	129	0	0	0	1	0	5	129				
MAGEC3	139081	broad.mit.edu	37	X	140985531	140985531	+	Silent	SNP	C	C	A			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chrX:140985531C>A	ENST00000298296.1	+	8	1845	c.1845C>A	c.(1843-1845)gcC>gcA	p.A615A	MAGEC3_ENST00000544766.1_3'UTR|MAGEC3_ENST00000409007.1_3'UTR|MAGEC3_ENST00000443323.2_3'UTR|MAGEC3_ENST00000536088.1_3'UTR	NM_138702.1	NP_619647.1	Q8TD91	MAGC3_HUMAN	melanoma antigen family C, 3	615	MAGE 2. {ECO:0000255|PROSITE- ProRule:PRU00127}.									NS(2)|breast(3)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|liver(1)|lung(32)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(2)	69	Acute lymphoblastic leukemia(192;6.56e-05)					AAGACAGAGCCCAGGCCATAA	0.473																																						ENST00000298296.1																			0				NS(2)|breast(3)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|liver(1)|lung(32)|ovary(1)|prostate(1)|skin(5)|stomach(1)|urinary_tract(2)	69						c.(1843-1845)gcC>gcA		melanoma antigen family C, 3							90.0	78.0	82.0					X																	140985531		2203	4300	6503	SO:0001819	synonymous_variant	139081							g.chrX:140985531C>A	AF490508	CCDS14676.1, CCDS14677.1	Xq27.2	2009-03-25			ENSG00000165509	ENSG00000165509			23798	protein-coding gene	gene with protein product	"""cancer/testis antigen family 7, member 2"""	300469				10861452	Standard	NM_138702		Approved	HCA2, MAGE-C3, CT7.2	uc011mwp.2	Q8TD91	OTTHUMG00000022570	ENST00000298296.1:c.1845C>A	X.37:g.140985531C>A						MAGEC3_ENST00000409007.1_3'UTR|MAGEC3_ENST00000536088.1_3'UTR|MAGEC3_ENST00000443323.2_3'UTR|MAGEC3_ENST00000544766.1_3'UTR	p.A615A	NM_138702.1	NP_619647.1	Q8TD91	MAGC3_HUMAN			8	1845	+	Acute lymphoblastic leukemia(192;6.56e-05)		615			MAGE 2.		Q3SYA7|Q5JZ43|Q9BZ80	Silent	SNP	ENST00000298296.1	37	c.1845C>A	CCDS14676.1																																																																																				0.473	MAGEC3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058606.1	NM_138702		93	24	1	0	7.69131e-47	1	1.08286e-46	93	24				
LARP1	23367	broad.mit.edu	37	5	154179188	154179188	+	Missense_Mutation	SNP	A	A	G			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr5:154179188A>G	ENST00000336314.4	+	9	1208	c.1184A>G	c.(1183-1185)gAg>gGg	p.E395G		NM_015315.3	NP_056130.2	Q6PKG0	LARP1_HUMAN	La ribonucleoprotein domain family, member 1	472					cell proliferation (GO:0008283)|positive regulation of macroautophagy (GO:0016239)|positive regulation of translation (GO:0045727)|TOR signaling (GO:0031929)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	eukaryotic initiation factor 4E binding (GO:0008190)|mRNA 3'-UTR binding (GO:0003730)|mRNA 5'-UTR binding (GO:0048027)|poly(A) RNA binding (GO:0044822)|RNA cap binding (GO:0000339)|translation activator activity (GO:0008494)|translation initiation factor binding (GO:0031369)			breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	33	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)			ATCGTTGATGAGAAAGTTCGT	0.468																																						ENST00000336314.4																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|lung(9)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	33						c.(1183-1185)gAg>gGg		La ribonucleoprotein domain family, member 1							107.0	108.0	108.0					5																	154179188		2203	4300	6503	SO:0001583	missense	23367						protein binding|RNA binding	g.chr5:154179188A>G	AB018274	CCDS4328.1	5q33.2	2014-02-12			ENSG00000155506	ENSG00000155506		"""La ribonucleoprotein domain containing"""	29531	protein-coding gene	gene with protein product		612059				9872452, 10878606	Standard	NM_015315		Approved	LARP, KIAA0731, MGC19556	uc003lvo.4	Q6PKG0	OTTHUMG00000130191	ENST00000336314.4:c.1184A>G	5.37:g.154179188A>G	ENSP00000336721:p.Glu395Gly						p.E395G	NM_015315.3	NP_056130.2	Q6PKG0	LARP1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)		9	1208	+	Renal(175;0.00488)	Medulloblastoma(196;0.0354)|all_neural(177;0.147)	472					O94836|Q8N4M2|Q8NB73|Q9UFD7	Missense_Mutation	SNP	ENST00000336314.4	37	c.1184A>G	CCDS4328.1	.	.	.	.	.	.	.	.	.	.	A	14.20	2.464345	0.43736	.	.	ENSG00000155506	ENST00000336314;ENST00000518297;ENST00000524248;ENST00000523163;ENST00000518742	T;T;T;T;T	0.42513	0.97;0.97;0.97;0.97;0.97	5.77	5.77	0.91146	Winged helix-turn-helix transcription repressor DNA-binding (1);RNA-binding protein Lupus La (2);	0.241878	0.43260	D	0.000600	T	0.29190	0.0726	N	0.16037	0.36	0.38166	D	0.939199	B;B	0.13145	0.007;0.004	B;B	0.12837	0.004;0.008	T	0.11131	-1.0600	10	0.31617	T	0.26	-25.8912	16.0957	0.81123	1.0:0.0:0.0:0.0	.	472;395	Q6PKG0;Q6PKG0-3	LARP1_HUMAN;.	G	395;472;267;180;79	ENSP00000336721:E395G;ENSP00000428589:E472G;ENSP00000429904:E267G;ENSP00000430438:E180G;ENSP00000431072:E79G	ENSP00000336721:E395G	E	+	2	0	LARP1	154159381	1.000000	0.71417	1.000000	0.80357	0.930000	0.56654	5.694000	0.68272	2.199000	0.70637	0.533000	0.62120	GAG		0.468	LARP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252509.1	NM_033551		51	135	0	0	0	1	0	51	135				
ORAOV1	220064	broad.mit.edu	37	11	69488085	69488085	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr11:69488085G>A	ENST00000535657.1	-	2	136	c.55C>T	c.(55-57)Cat>Tat	p.H19Y	ORAOV1_ENST00000279147.4_Missense_Mutation_p.H19Y|ORAOV1_ENST00000539414.1_Missense_Mutation_p.H19Y|ORAOV1_ENST00000542341.1_Missense_Mutation_p.H19Y|ORAOV1_ENST00000536870.1_Intron			Q8WV07	ORAV1_HUMAN	oral cancer overexpressed 1	19										NS(1)|endometrium(1)|large_intestine(2)|lung(1)	5	all_cancers(3;5.53e-114)|all_epithelial(3;1.34e-121)|Breast(3;9.28e-34)|all_lung(4;1.99e-21)|Lung NSC(4;4.65e-21)|Hepatocellular(3;6.15e-15)|Melanoma(5;1.89e-05)|Ovarian(3;0.0348)		Epithelial(3;5.64e-57)|all cancers(3;5.98e-51)|BRCA - Breast invasive adenocarcinoma(2;5.49e-48)|Lung(3;1.13e-16)|LUSC - Lung squamous cell carcinoma(11;3.74e-15)|STAD - Stomach adenocarcinoma(18;0.0278)|LUAD - Lung adenocarcinoma(13;0.0537)			CCTTCCCCATGAAACCTGTGA	0.478																																						ENST00000279147.4																			0				NS(1)|endometrium(1)|large_intestine(2)|lung(1)	5						c.(55-57)Cat>Tat		oral cancer overexpressed 1							134.0	111.0	119.0					11																	69488085		2200	4294	6494	SO:0001583	missense	220064							g.chr11:69488085G>A		CCDS8192.1	11q13.2	2010-11-23			ENSG00000149716	ENSG00000149716			17589	protein-coding gene	gene with protein product	"""oral cancer overexpressed protein 1-A"""	607224				12172009	Standard	NM_153451		Approved	TAOS1	uc001opc.3	Q8WV07		ENST00000535657.1:c.55C>T	11.37:g.69488085G>A	ENSP00000446129:p.His19Tyr					ORAOV1_ENST00000535657.1_Missense_Mutation_p.H19Y|ORAOV1_ENST00000539414.1_Missense_Mutation_p.H19Y|ORAOV1_ENST00000542341.1_Missense_Mutation_p.H19Y|ORAOV1_ENST00000536870.1_Intron	p.H19Y	NM_153451.2	NP_703152.1	Q8WV07	ORAV1_HUMAN	Epithelial(3;5.64e-57)|all cancers(3;5.98e-51)|BRCA - Breast invasive adenocarcinoma(2;5.49e-48)|Lung(3;1.13e-16)|LUSC - Lung squamous cell carcinoma(11;3.74e-15)|STAD - Stomach adenocarcinoma(18;0.0278)|LUAD - Lung adenocarcinoma(13;0.0537)		2	162	-	all_cancers(3;5.53e-114)|all_epithelial(3;1.34e-121)|Breast(3;9.28e-34)|all_lung(4;1.99e-21)|Lung NSC(4;4.65e-21)|Hepatocellular(3;6.15e-15)|Melanoma(5;1.89e-05)|Ovarian(3;0.0348)		19					B2R4R2|Q8NFK0	Missense_Mutation	SNP	ENST00000535657.1	37	c.55C>T	CCDS8192.1	.	.	.	.	.	.	.	.	.	.	G	14.03	2.413974	0.42817	.	.	ENSG00000149716	ENST00000538554;ENST00000376587;ENST00000279147;ENST00000535657;ENST00000539414;ENST00000441922;ENST00000542341;ENST00000355486	T;T;T;T;T;T	0.45668	1.1;1.18;1.18;1.19;0.89;1.06	4.55	4.55	0.56014	.	0.211412	0.32134	N	0.006524	T	0.43831	0.1265	N	0.20530	0.585	0.48341	D	0.999639	D;D;P	0.67145	0.985;0.996;0.828	P;D;B	0.78314	0.71;0.991;0.348	T	0.22208	-1.0223	10	0.02654	T	1	5.5686	15.5062	0.75743	0.0:0.0:1.0:0.0	.	19;19;19	B4DFA5;F5H6T8;Q8WV07	.;.;ORAV1_HUMAN	Y	19	ENSP00000446428:H19Y;ENSP00000279147:H19Y;ENSP00000446129:H19Y;ENSP00000444112:H19Y;ENSP00000409643:H19Y;ENSP00000437367:H19Y	ENSP00000279147:H19Y	H	-	1	0	ORAOV1	69197266	1.000000	0.71417	0.953000	0.39169	0.854000	0.48673	7.022000	0.76431	2.051000	0.60960	0.563000	0.77884	CAT		0.478	ORAOV1-009	PUTATIVE	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000396821.1	NM_153451		65	1790	0	0	0	1	0	65	1790				
NAALADL2	254827	broad.mit.edu	37	3	175293828	175293828	+	Splice_Site	SNP	G	G	C			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr3:175293828G>C	ENST00000454872.1	+	10	1781		c.e10-1		NAALADL2_ENST00000473253.1_Splice_Site	NM_207015.2	NP_996898.2	Q58DX5	NADL2_HUMAN	N-acetylated alpha-linked acidic dipeptidase-like 2							integral component of membrane (GO:0016021)				central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(20)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	49	Ovarian(172;0.0102)	all_cancers(1;0.0272)|all_epithelial(1;0.0553)	OV - Ovarian serous cystadenocarcinoma(80;9.26e-28)	Colorectal(1;1.66e-10)|COAD - Colon adenocarcinoma(1;2.1e-07)|STAD - Stomach adenocarcinoma(1;0.00261)|READ - Rectum adenocarcinoma(3;0.0284)		ATGTTTTTCAGAAAAATAATT	0.378																																						ENST00000454872.1																			0				central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(5)|lung(20)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)	49						c.e10-1		N-acetylated alpha-linked acidic dipeptidase-like 2							57.0	56.0	57.0					3																	175293828		1846	4090	5936	SO:0001630	splice_region_variant	254827				proteolysis	integral to membrane	peptidase activity	g.chr3:175293828G>C		CCDS46960.1	3q26.3	2011-08-16			ENSG00000177694	ENSG00000177694			23219	protein-coding gene	gene with protein product	"""glutamate carboxypeptidase II-type non-peptidase homologue"""	608806				15168106	Standard	NM_207015		Approved		uc003fir.3	Q58DX5	OTTHUMG00000157120	ENST00000454872.1:c.1654-1G>C	3.37:g.175293828G>C						NAALADL2_ENST00000473253.1_Splice_Site		NM_207015.2	NP_996898.2	Q58DX5	NADL2_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;9.26e-28)	Colorectal(1;1.66e-10)|COAD - Colon adenocarcinoma(1;2.1e-07)|STAD - Stomach adenocarcinoma(1;0.00261)|READ - Rectum adenocarcinoma(3;0.0284)	10	1781	+	Ovarian(172;0.0102)	all_cancers(1;0.0272)|all_epithelial(1;0.0553)						Q658X9|Q6H9J8|Q6H9J9|Q6PG38	Splice_Site	SNP	ENST00000454872.1	37		CCDS46960.1	.	.	.	.	.	.	.	.	.	.	G	19.24	3.789674	0.70337	.	.	ENSG00000177694	ENST00000454872	.	.	.	5.84	5.84	0.93424	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.3185	0.90229	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	NAALADL2	176776522	1.000000	0.71417	1.000000	0.80357	0.923000	0.55619	6.275000	0.72594	2.779000	0.95612	0.655000	0.94253	.		0.378	NAALADL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347390.2	NM_207015	Intron	14	37	0	0	0	1	0	14	37				
COL15A1	1306	broad.mit.edu	37	9	101777723	101777723	+	Missense_Mutation	SNP	A	A	G			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr9:101777723A>G	ENST00000375001.3	+	10	1801	c.1378A>G	c.(1378-1380)Aca>Gca	p.T460A		NM_001855.3	NP_001846.3	P39059	COFA1_HUMAN	collagen, type XV, alpha 1	460	4 X tandem repeats.|Nonhelical region 1 (NC1).				angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell differentiation (GO:0030154)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|signal transduction (GO:0007165)	collagen type XV trimer (GO:0005582)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	107		Acute lymphoblastic leukemia(62;0.0562)				AGACAGTTTAACAACAGCTGC	0.577																																						ENST00000375001.3																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(20)|liver(1)|lung(42)|ovary(6)|prostate(5)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	107						c.(1378-1380)Aca>Gca		collagen, type XV, alpha 1							88.0	80.0	83.0					9																	101777723		2203	4300	6503	SO:0001583	missense	1306				angiogenesis|cell differentiation|signal transduction	collagen type XV|extracellular space|integral to membrane	binding	g.chr9:101777723A>G	L25286	CCDS35081.1	9q21-q22	2013-01-16			ENSG00000204291	ENSG00000204291		"""Proteoglycans / Extracellular Matrix : Collagen proteoglycans"", ""Collagens"""	2192	protein-coding gene	gene with protein product	"""collagen type XV proteoglycan"""	120325				1427836	Standard	NM_001855		Approved		uc004azb.2	P39059	OTTHUMG00000020351	ENST00000375001.3:c.1378A>G	9.37:g.101777723A>G	ENSP00000364140:p.Thr460Ala						p.T460A	NM_001855.3	NP_001846.3	P39059	COFA1_HUMAN			10	1801	+		Acute lymphoblastic leukemia(62;0.0562)	460			4 X tandem repeats.|Nonhelical region 1 (NC1).		Q5T6J4|Q9UDC5|Q9Y4W4	Missense_Mutation	SNP	ENST00000375001.3	37	c.1378A>G	CCDS35081.1	.	.	.	.	.	.	.	.	.	.	A	6.660	0.490258	0.12702	.	.	ENSG00000204291	ENST00000375001;ENST00000536083	D	0.89746	-2.56	3.65	1.33	0.21861	.	17.439400	0.00357	N	0.000031	D	0.83963	0.5368	L	0.52573	1.65	0.09310	N	1	B	0.14012	0.009	B	0.12156	0.007	T	0.63028	-0.6728	10	0.07990	T	0.79	-3.1803	5.0827	0.14664	0.7523:0.0:0.2477:0.0	.	460	P39059	COFA1_HUMAN	A	460;430	ENSP00000364140:T460A	ENSP00000364140:T460A	T	+	1	0	COL15A1	100817544	0.000000	0.05858	0.005000	0.12908	0.208000	0.24298	0.325000	0.19628	0.292000	0.22492	0.454000	0.30748	ACA		0.577	COL15A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053386.3	NM_001855		35	90	0	0	0	1	0	35	90				
KEAP1	9817	broad.mit.edu	37	19	10610642	10610642	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr19:10610642C>T	ENST00000171111.5	-	2	615	c.68G>A	c.(67-69)tGc>tAc	p.C23Y	KEAP1_ENST00000393623.2_Missense_Mutation_p.C23Y|KEAP1_ENST00000588024.1_5'Flank	NM_203500.1	NP_987096.1	Q14145	KEAP1_HUMAN	kelch-like ECH-associated protein 1	23			C -> Y (in a breast cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.		cellular response to interleukin-4 (GO:0071353)|in utero embryonic development (GO:0001701)|proteasomal ubiquitin-independent protein catabolic process (GO:0010499)|protein ubiquitination (GO:0016567)|regulation of epidermal cell differentiation (GO:0045604)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	Cul3-RING ubiquitin ligase complex (GO:0031463)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|microtubule organizing center (GO:0005815)|midbody (GO:0030496)|nucleus (GO:0005634)		p.C23Y(1)		breast(3)|endometrium(2)|kidney(4)|large_intestine(4)|liver(2)|lung(69)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	92			OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05)		Dimethyl fumarate(DB08908)	CCCCTCAGGGCACTGTGACTG	0.652																																						ENST00000171111.5																			1	Substitution - Missense(1)	p.C23Y(1)	breast(1)	breast(3)|endometrium(2)|kidney(4)|large_intestine(4)|liver(2)|lung(69)|ovary(2)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	92						c.(67-69)tGc>tAc		kelch-like ECH-associated protein 1							51.0	45.0	47.0					19																	10610642		2202	4299	6501	SO:0001583	missense	9817				regulation of transcription, DNA-dependent|transcription, DNA-dependent	centrosome|midbody|nucleus	protein binding	g.chr19:10610642C>T	AF361886	CCDS12239.1	19p13.2	2013-01-30				ENSG00000079999		"""Kelch-like"", ""BTB/POZ domain containing"""	23177	protein-coding gene	gene with protein product	"""kelch-like family member 19"""	606016					Standard	NM_012289		Approved	KIAA0132, MGC10630, MGC1114, MGC20887, MGC4407, MGC9454, INrf2, KLHL19	uc002mor.1	Q14145		ENST00000171111.5:c.68G>A	19.37:g.10610642C>T	ENSP00000171111:p.Cys23Tyr					KEAP1_ENST00000393623.2_Missense_Mutation_p.C23Y	p.C23Y	NM_203500.1	NP_987096.1	Q14145	KEAP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;2.71e-09)|Epithelial(33;2.32e-06)|all cancers(31;1.42e-05)		2	615	-			23		C -> Y (in a breast cancer sample; somatic mutation).			B3KPD5|Q6LEP0|Q8WTX1|Q9BPY9	Missense_Mutation	SNP	ENST00000171111.5	37	c.68G>A	CCDS12239.1	.	.	.	.	.	.	.	.	.	.	C	9.095	1.002693	0.19121	.	.	ENSG00000079999	ENST00000171111;ENST00000393623	T;T	0.70749	-0.51;-0.51	4.9	2.61	0.31194	.	0.331770	0.26140	N	0.026104	T	0.43678	0.1258	N	0.14661	0.345	0.32666	N	0.517458	B	0.12013	0.005	B	0.09377	0.004	T	0.43750	-0.9372	10	0.02654	T	1	.	7.0808	0.25229	0.1709:0.735:0.0:0.0941	.	23	Q14145	KEAP1_HUMAN	Y	23	ENSP00000171111:C23Y;ENSP00000377245:C23Y	ENSP00000171111:C23Y	C	-	2	0	KEAP1	10471642	0.682000	0.27624	0.851000	0.33527	0.107000	0.19398	0.743000	0.26231	1.062000	0.40625	0.462000	0.41574	TGC		0.652	KEAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452000.1	NM_012289		81	112	0	0	0	1	0	81	112				
SLMO1	10650	broad.mit.edu	37	18	12421573	12421573	+	Missense_Mutation	SNP	G	G	A	rs8090913		TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr18:12421573G>A	ENST00000440960.1	+	3	316	c.236G>A	c.(235-237)cGa>cAa	p.R79Q	SLMO1_ENST00000590956.1_5'UTR|SLMO1_ENST00000587735.1_5'UTR|SLMO1_ENST00000336990.4_Missense_Mutation_p.R79Q|SLMO1_ENST00000592149.1_Missense_Mutation_p.R58Q	NM_001142405.1	NP_001135877.1	Q96N28	SLMO1_HUMAN	slowmo homolog 1 (Drosophila)	79	PRELI/MSF1. {ECO:0000255|PROSITE- ProRule:PRU00158}.				phospholipid transport (GO:0015914)	mitochondrial intermembrane space (GO:0005758)	phosphatidic acid transporter activity (GO:1990050)			endometrium(1)	1						ACATACATCCGAGAACATTCT	0.408																																						ENST00000592149.1																			0				endometrium(1)	1						c.(172-174)cGa>cAa		slowmo homolog 1 (Drosophila)							163.0	156.0	158.0					18																	12421573		2203	4300	6503	SO:0001583	missense	10650							g.chr18:12421573G>A	AK056046	CCDS11860.1	18p11.21	2007-02-20	2007-02-06	2007-02-06	ENSG00000141391	ENSG00000141391			24639	protein-coding gene	gene with protein product	"""erythroid differentiation and denucleation factor 1"""		"""chromosome 18 open reading frame 43"""	C18orf43			Standard	NM_006553		Approved	HFL-EDDG1, FLJ31484, PRELID3A	uc010wzu.2	Q96N28	OTTHUMG00000131694	ENST00000440960.1:c.236G>A	18.37:g.12421573G>A	ENSP00000404700:p.Arg79Gln					SLMO1_ENST00000590956.1_5'UTR|SLMO1_ENST00000587735.1_5'UTR|SLMO1_ENST00000336990.4_Missense_Mutation_p.R79Q|SLMO1_ENST00000440960.1_Missense_Mutation_p.R79Q	p.R58Q			Q96N28	SLMO1_HUMAN			2	596	+			79			PRELI/MSF1.		B0YJ10|B4E0C9|D3DUJ1|Q6AHX2	Missense_Mutation	SNP	ENST00000440960.1	37	c.173G>A	CCDS11860.1	.	.	.	.	.	.	.	.	.	.	G	3.693	-0.063120	0.07273	.	.	ENSG00000141391	ENST00000440960;ENST00000336990	T;T	0.17370	2.28;2.28	5.66	-4.07	0.03975	PRELI/MSF1 (2);	0.309214	0.37669	N	0.001984	T	0.04724	0.0128	N	0.02842	-0.48	0.19775	N	0.999951	B	0.02656	0.0	B	0.01281	0.0	T	0.36792	-0.9733	10	0.17369	T	0.5	-14.0762	7.8846	0.29642	0.4836:0.1159:0.4005:0.0	rs8090913;rs52789959;rs8090913	79	Q96N28	SLMO1_HUMAN	Q	79	ENSP00000404700:R79Q;ENSP00000338988:R79Q	ENSP00000338988:R79Q	R	+	2	0	SLMO1	12411573	0.971000	0.33674	0.930000	0.37139	0.394000	0.30568	1.156000	0.31712	-0.727000	0.04888	-0.937000	0.02696	CGA		0.408	SLMO1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254602.2	NM_006553		48	212	0	0	0	1	0	48	212				
ARHGAP9	64333	broad.mit.edu	37	12	57866398	57866398	+	Silent	SNP	G	G	T			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr12:57866398G>T	ENST00000356411.2	-	18	2293	c.2155C>A	c.(2155-2157)Cgg>Agg	p.R719R	ARHGAP9_ENST00000393791.3_Silent_p.R700R|ARHGAP9_ENST00000393797.2_Silent_p.R790R|ARHGAP9_ENST00000424809.2_3'UTR|ARHGAP9_ENST00000550288.1_3'UTR|ARHGAP9_ENST00000430041.2_Silent_p.R516R			Q9BRR9	RHG09_HUMAN	Rho GTPase activating protein 9	719	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				positive regulation of GTPase activity (GO:0043547)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)			endometrium(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(1)	30			GBM - Glioblastoma multiforme(3;3.37e-34)			TGCTCTGGCCGAAACAGGGTT	0.552																																						ENST00000393797.2																			0				endometrium(1)|kidney(1)|large_intestine(10)|lung(16)|ovary(1)|prostate(1)	30						c.(2368-2370)Cgg>Agg		Rho GTPase activating protein 9							94.0	76.0	82.0					12																	57866398		2203	4300	6503	SO:0001819	synonymous_variant	64333				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding	g.chr12:57866398G>T	AB051853	CCDS8941.2, CCDS44928.1, CCDS44929.1	12q13.3	2013-01-10			ENSG00000123329	ENSG00000123329		"""Rho GTPase activating proteins"", ""Pleckstrin homology (PH) domain containing"""	14130	protein-coding gene	gene with protein product		610576				11396949	Standard	NM_032496		Approved	MGC1295, 10C	uc001soc.3	Q9BRR9	OTTHUMG00000150147	ENST00000356411.2:c.2155C>A	12.37:g.57866398G>T						ARHGAP9_ENST00000356411.2_Silent_p.R719R|ARHGAP9_ENST00000424809.2_3'UTR|ARHGAP9_ENST00000393791.3_Silent_p.R700R|ARHGAP9_ENST00000430041.2_Silent_p.R516R|ARHGAP9_ENST00000550288.1_3'UTR	p.R790R			Q9BRR9	RHG09_HUMAN	GBM - Glioblastoma multiforme(3;3.37e-34)		21	2560	-			719					B4DVI3|E9PDX9|Q8NAF3|Q8TCJ3|Q8WYR0|Q96EZ2|Q96S74	Silent	SNP	ENST00000356411.2	37	c.2368C>A		.	.	.	.	.	.	.	.	.	.	G	9.531	1.110843	0.20714	.	.	ENSG00000123329	ENST00000550399	T	0.14144	2.53	4.74	2.77	0.32553	.	.	.	.	.	T	0.07638	0.0192	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.10405	-1.0631	6	0.02654	T	1	.	11.6847	0.51479	0.0:0.0:0.6866:0.3134	.	.	.	.	L	124	ENSP00000448404:F124L	ENSP00000448404:F124L	F	-	3	2	ARHGAP9	56152665	1.000000	0.71417	0.960000	0.40013	0.982000	0.71751	2.806000	0.47947	1.127000	0.42034	0.650000	0.86243	TTC		0.552	ARHGAP9-201	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_032496		43	58	1	0	2.59497e-14	1	3.01806e-14	43	58				
PHLDA1	22822	broad.mit.edu	37	12	76424417	76424417	+	Missense_Mutation	SNP	G	G	T			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr12:76424417G>T	ENST00000266671.5	-	1	3295	c.1105C>A	c.(1105-1107)Cac>Aac	p.H369N	RP11-290L1.3_ENST00000552367.1_RNA|PHLDA1_ENST00000602540.1_Missense_Mutation_p.H228N|RP11-290L1.2_ENST00000547721.1_RNA			Q8WV24	PHLA1_HUMAN	pleckstrin homology-like domain, family A, member 1	369	14 X 2 AA repeats of P-H.				apoptotic process (GO:0006915)|FasL biosynthetic process (GO:0045210)|forebrain neuron differentiation (GO:0021879)|positive regulation of apoptotic process (GO:0043065)	cytoplasmic vesicle (GO:0031410)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	14		Colorectal(145;0.09)				gggtgcgggtgagggtgtggg	0.662																																						ENST00000266671.5																			0				breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(4)|skin(1)	14						c.(1105-1107)Cac>Aac		pleckstrin homology-like domain, family A, member 1							130.0	98.0	109.0					12																	76424417		2201	4299	6500	SO:0001583	missense	22822				apoptosis	cytoplasmic vesicle membrane|nucleolus|plasma membrane	protein binding	g.chr12:76424417G>T	Z50194	CCDS31861.1	12q15	2008-08-05				ENSG00000139289			8933	protein-coding gene	gene with protein product	"""proline-histidine rich protein"""	605335				12384558, 15037619	Standard	NM_007350		Approved	TDAG51, DT1P1B11, PHRIP	uc001sxu.3	Q8WV24		ENST00000266671.5:c.1105C>A	12.37:g.76424417G>T	ENSP00000266671:p.His369Asn					PHLDA1_ENST00000602540.1_Missense_Mutation_p.H228N|RP11-290L1.3_ENST00000552367.1_RNA	p.H369N			Q8WV24	PHLA1_HUMAN			1	3295	-		Colorectal(145;0.09)	369			14 X 2 AA repeats of P-H.		A1A4G9|Q15184|Q2TAN2|Q9NZ17	Missense_Mutation	SNP	ENST00000266671.5	37	c.1105C>A	CCDS31861.1	.	.	.	.	.	.	.	.	.	.	G	10.59	1.391660	0.25118	.	.	ENSG00000139289	ENST00000266671;ENST00000421361	T	0.40476	1.03	4.96	4.96	0.65561	.	0.000000	0.49916	D	0.000140	T	0.35008	0.0917	L	0.39898	1.24	0.09310	N	1	B	0.34015	0.435	B	0.29353	0.101	T	0.42749	-0.9433	10	0.87932	D	0	-8.3092	15.2361	0.73432	0.0:0.0:1.0:0.0	.	369	Q8WV24	PHLA1_HUMAN	N	369;187	ENSP00000266671:H369N	ENSP00000266671:H369N	H	-	1	0	PHLDA1	74710684	0.023000	0.18921	0.064000	0.19789	0.019000	0.09904	1.583000	0.36579	2.582000	0.87167	0.561000	0.74099	CAC		0.662	PHLDA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000405846.2	NM_007350		14	22	1	0	1.5842e-08	1	1.68666e-08	14	22				
GABRB3	2562	broad.mit.edu	37	15	26792997	26792997	+	Silent	SNP	C	C	A			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr15:26792997C>A	ENST00000311550.5	-	9	1476	c.1365G>T	c.(1363-1365)gtG>gtT	p.V455V	GABRB3_ENST00000545868.1_Silent_p.V370V|GABRB3_ENST00000299267.4_Silent_p.V455V|GABRB3_ENST00000400188.3_Silent_p.V384V|GABRB3_ENST00000541819.2_Silent_p.V511V	NM_000814.5|NM_001278631.1	NP_000805.1|NP_001265560.1	P28472	GBRB3_HUMAN	gamma-aminobutyric acid (GABA) A receptor, beta 3	455					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)	TGAATGGAAACACGATCCTGG	0.393																																						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.(1531-1533)gtG>gtT		gamma-aminobutyric acid (GABA) A receptor, beta 3	Ethchlorvynol(DB00189)|Flurazepam(DB00690)|Lorazepam(DB00186)|Midazolam(DB00683)						124.0	103.0	110.0					15																	26792997		2203	4300	6503	SO:0001819	synonymous_variant	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.chr15:26792997C>A		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.1365G>T	15.37:g.26792997C>A						GABRB3_ENST00000299267.4_Silent_p.V455V|GABRB3_ENST00000311550.5_Silent_p.V455V|GABRB3_ENST00000400188.3_Silent_p.V384V|GABRB3_ENST00000545868.1_Silent_p.V370V	p.V511V			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)	10	1635	-		all_cancers(20;1.89e-22)|all_lung(180;6.35e-15)|Breast(32;0.000279)|Colorectal(260;0.232)	455					B7Z2W1|B7Z825|F5H3D2|H7BYV8|Q14352|Q96FM5	Silent	SNP	ENST00000311550.5	37	c.1533G>T	CCDS10019.1																																																																																				0.393	GABRB3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251352.2			62	88	1	0	7.41606e-26	1	9.53175e-26	62	88				
AGTR1	185	broad.mit.edu	37	3	148459143	148459143	+	Missense_Mutation	SNP	C	C	A			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr3:148459143C>A	ENST00000497524.1	+	2	712	c.321C>A	c.(319-321)agC>agA	p.S107R	AGTR1_ENST00000461609.1_Missense_Mutation_p.S107R|AGTR1_ENST00000475347.1_Missense_Mutation_p.S107R|AGTR1_ENST00000418473.2_Missense_Mutation_p.S107R|AGTR1_ENST00000404754.2_Missense_Mutation_p.S107R|AGTR1_ENST00000542281.1_Missense_Mutation_p.S107R|AGTR1_ENST00000349243.3_Missense_Mutation_p.S107R|AGTR1_ENST00000402260.1_Missense_Mutation_p.S107R|AGTR1_ENST00000474935.1_Missense_Mutation_p.S107R	NM_009585.3	NP_033611.1	P30556	AGTR1_HUMAN	angiotensin II receptor, type 1	107					angiotensin-activated signaling pathway (GO:0038166)|calcium-mediated signaling (GO:0019722)|cell chemotaxis (GO:0060326)|G-protein coupled receptor signaling pathway (GO:0007186)|kidney development (GO:0001822)|low-density lipoprotein particle remodeling (GO:0034374)|phospholipase C-activating angiotensin-activated signaling pathway (GO:0086097)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of cholesterol esterification (GO:0010873)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|positive regulation of inflammatory response (GO:0050729)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|positive regulation of NAD(P)H oxidase activity (GO:0033864)|positive regulation of phospholipase A2 activity (GO:0032430)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|regulation of blood vessel size by renin-angiotensin (GO:0002034)|regulation of cell growth (GO:0001558)|regulation of cell proliferation (GO:0042127)|regulation of inflammatory response (GO:0050727)|regulation of renal sodium excretion (GO:0035813)|regulation of systemic arterial blood pressure by renin-angiotensin (GO:0003081)|regulation of vasoconstriction (GO:0019229)|regulation of vasodilation (GO:0042312)|renin-angiotensin regulation of aldosterone production (GO:0002018)|Rho protein signal transduction (GO:0007266)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	angiotensin type I receptor activity (GO:0001596)|angiotensin type II receptor activity (GO:0004945)|bradykinin receptor binding (GO:0031711)|protein heterodimerization activity (GO:0046982)			breast(4)|endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30			LUSC - Lung squamous cell carcinoma(72;0.127)|Lung(72;0.152)		Azilsartan medoxomil(DB08822)|Candesartan(DB00796)|Eprosartan(DB00876)|Forasartan(DB01342)|Irbesartan(DB01029)|Losartan(DB00678)|Olmesartan(DB00275)|Saprisartan(DB01347)|Tasosartan(DB01349)|Telmisartan(DB00966)|Valsartan(DB00177)	CTTCAGCCAGCGTCAGTTTCA	0.473																																						ENST00000542281.1																			0				breast(4)|endometrium(3)|kidney(1)|large_intestine(5)|lung(13)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						c.(319-321)agC>agA		angiotensin II receptor, type 1	Candesartan(DB00796)|Eprosartan(DB00876)|Forasartan(DB01342)|Irbesartan(DB01029)|Losartan(DB00678)|Olmesartan(DB00275)|Saprisartan(DB01347)|Spironolactone(DB00421)|Tasosartan(DB01349)|Telmisartan(DB00966)|Valsartan(DB00177)						93.0	90.0	91.0					3																	148459143		2203	4300	6503	SO:0001583	missense	185				calcium-mediated signaling|cell chemotaxis|elevation of cytosolic calcium ion concentration involved in G-protein signaling coupled to IP3 second messenger|kidney development|low-density lipoprotein particle remodeling|positive regulation of cellular protein metabolic process|positive regulation of cholesterol esterification|positive regulation of inflammatory response|positive regulation of NAD(P)H oxidase activity|positive regulation of phospholipase A2 activity|positive regulation of reactive oxygen species metabolic process|regulation of cell growth|regulation of cell proliferation|regulation of renal sodium excretion|regulation of vasoconstriction|renin-angiotensin regulation of aldosterone production|Rho protein signal transduction		acetyltransferase activator activity|angiotensin type I receptor activity|angiotensin type II receptor activity|bradykinin receptor binding|protein heterodimerization activity	g.chr3:148459143C>A	M87290	CCDS3137.1	3q24	2012-08-08	2002-02-20		ENSG00000144891	ENSG00000144891		"""GPCR / Class A : Angiotensin receptors"""	336	protein-coding gene	gene with protein product		106165	"""angiotensin receptor 1B"""	AGTR1B		1550596	Standard	NM_009585		Approved	AT1, AT2R1, AGTR1A, AT2R1A, HAT1R, AG2S, AT2R1B, AT1B	uc003ewh.4	P30556	OTTHUMG00000159503	ENST00000497524.1:c.321C>A	3.37:g.148459143C>A	ENSP00000419422:p.Ser107Arg					AGTR1_ENST00000349243.3_Missense_Mutation_p.S107R|AGTR1_ENST00000404754.2_Missense_Mutation_p.S107R|AGTR1_ENST00000402260.1_Missense_Mutation_p.S107R|AGTR1_ENST00000418473.2_Missense_Mutation_p.S107R|AGTR1_ENST00000474935.1_Missense_Mutation_p.S107R|AGTR1_ENST00000475347.1_Missense_Mutation_p.S107R|AGTR1_ENST00000461609.1_Missense_Mutation_p.S107R|AGTR1_ENST00000497524.1_Missense_Mutation_p.S107R	p.S107R	NM_031850.3	NP_114038.4	P30556	AGTR1_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.127)|Lung(72;0.152)		4	767	+			107					Q13725|Q8TBK4	Missense_Mutation	SNP	ENST00000497524.1	37	c.321C>A	CCDS3137.1	.	.	.	.	.	.	.	.	.	.	C	12.24	1.879294	0.33162	.	.	ENSG00000144891	ENST00000497524;ENST00000349243;ENST00000542281;ENST00000418473;ENST00000404754;ENST00000475347;ENST00000474935;ENST00000461609;ENST00000402260	T;T;T;T;T;T;T;T;T	0.37752	1.18;1.18;1.18;1.18;1.18;1.18;1.18;1.18;1.18	5.48	-8.14	0.01069	GPCR, rhodopsin-like superfamily (1);	0.359195	0.28718	N	0.014374	T	0.29458	0.0734	L	0.51422	1.61	0.21967	N	0.999447	B	0.25719	0.132	B	0.40782	0.34	T	0.41342	-0.9514	10	0.48119	T	0.1	-16.4629	6.001	0.19521	0.1257:0.6742:0.1099:0.0902	.	107	P30556	AGTR1_HUMAN	R	107	ENSP00000419422:S107R;ENSP00000273430:S107R;ENSP00000443186:S107R;ENSP00000398832:S107R;ENSP00000385612:S107R;ENSP00000419783:S107R;ENSP00000418084:S107R;ENSP00000418851:S107R;ENSP00000385641:S107R	ENSP00000273430:S107R	S	+	3	2	AGTR1	149941833	0.002000	0.14202	0.933000	0.37362	0.994000	0.84299	-1.537000	0.02206	-1.013000	0.03383	-0.345000	0.07892	AGC		0.473	AGTR1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355807.1			99	100	1	0	8.68486e-57	1	1.26433e-56	99	100				
CD93	22918	broad.mit.edu	37	20	23065301	23065301	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr20:23065301G>A	ENST00000246006.4	-	1	1676	c.1529C>T	c.(1528-1530)cCc>cTc	p.P510L		NM_012072.3	NP_036204.2	Q9NPY3	C1QR1_HUMAN	CD93 molecule	510					macrophage activation (GO:0042116)|phagocytosis (GO:0006909)|single organismal cell-cell adhesion (GO:0016337)|viral process (GO:0016032)	cell surface (GO:0009986)|cytoplasmic membrane-bounded vesicle (GO:0016023)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)|complement component C1q binding (GO:0001849)|receptor activity (GO:0004872)	p.P510H(1)		NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39	Colorectal(13;0.0352)|Lung NSC(19;0.0542)|all_lung(19;0.118)					TGTAGCCTTGGGGGTGCCCTC	0.647																																						ENST00000246006.4																			1	Substitution - Missense(1)	p.P510H(1)	lung(1)	NS(2)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(14)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	39						c.(1528-1530)cCc>cTc		CD93 molecule							47.0	55.0	52.0					20																	23065301		2201	4300	6501	SO:0001583	missense	22918				cell-cell adhesion|interspecies interaction between organisms|macrophage activation|phagocytosis	plasma membrane	calcium ion binding|complement component C1q binding|receptor activity|sugar binding	g.chr20:23065301G>A	U94333	CCDS13149.1	20p11.21	2009-01-29	2006-03-28	2006-02-22	ENSG00000125810	ENSG00000125810		"""CD molecules"""	15855	protein-coding gene	gene with protein product		120577	"""matrix-remodelling associated 4"", ""complement component 1, q subcomponent, receptor 1"", ""CD93 antigen"""	MXRA4, C1QR1		9047234, 10648005	Standard	NM_012072		Approved	C1qRP, C1qR(P), dJ737E23.1, CDw93, ECSM3	uc002wsv.3	Q9NPY3	OTTHUMG00000032058	ENST00000246006.4:c.1529C>T	20.37:g.23065301G>A	ENSP00000246006:p.Pro510Leu						p.P510L	NM_012072.3	NP_036204.2	Q9NPY3	C1QR1_HUMAN			1	1676	-	Colorectal(13;0.0352)|Lung NSC(19;0.0542)|all_lung(19;0.118)		510					O00274	Missense_Mutation	SNP	ENST00000246006.4	37	c.1529C>T	CCDS13149.1	.	.	.	.	.	.	.	.	.	.	G	12.32	1.901616	0.33535	.	.	ENSG00000125810	ENST00000246006	T	0.81247	-1.47	5.79	2.5	0.30297	.	0.567496	0.14867	N	0.293780	T	0.67496	0.2899	N	0.22421	0.69	0.09310	N	1	B	0.17667	0.023	B	0.14023	0.01	T	0.57843	-0.7741	10	0.45353	T	0.12	-20.2177	9.9658	0.41723	0.0734:0.0:0.6435:0.283	.	510	Q9NPY3	C1QR1_HUMAN	L	510	ENSP00000246006:P510L	ENSP00000246006:P510L	P	-	2	0	CD93	23013301	0.024000	0.19004	0.005000	0.12908	0.000000	0.00434	1.017000	0.29989	0.766000	0.33244	-0.140000	0.14226	CCC		0.647	CD93-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078312.2	NM_012072		57	184	0	0	0	1	0	57	184				
UGT2B15	7366	broad.mit.edu	37	4	69535643	69535643	+	Nonsense_Mutation	SNP	T	T	A			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr4:69535643T>A	ENST00000338206.5	-	1	703	c.694A>T	c.(694-696)Aag>Tag	p.K232*		NM_001076.3	NP_001067.2	P54855	UDB15_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B15	232					cellular glucuronidation (GO:0052695)|steroid metabolic process (GO:0008202)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)									Acetaminophen(DB00316)|Dabigatran etexilate(DB06695)|Ezetimibe(DB00973)|Lorazepam(DB00186)|Morphine(DB00295)|Oxazepam(DB00842)|Valproic Acid(DB00313)	TGGTCCCACTTCTTCAGATCA	0.313																																						ENST00000338206.5																			0											c.(694-696)Aag>Tag		UDP glucuronosyltransferase 2 family, polypeptide B15							105.0	118.0	113.0					4																	69535643		2203	4295	6498	SO:0001587	stop_gained	7366				steroid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	g.chr4:69535643T>A	AF180322	CCDS3524.1	4q13	2008-02-05	2005-07-20		ENSG00000196620	ENSG00000196620		"""UDP glucuronosyltransferases"""	12546	protein-coding gene	gene with protein product		600069	"""UDP glycosyltransferase 2 family, polypeptide B15"""			7835904	Standard	NM_001076		Approved	UGT2B8	uc021xow.1	P54855	OTTHUMG00000161507	ENST00000338206.5:c.694A>T	4.37:g.69535643T>A	ENSP00000341045:p.Lys232*						p.K232*	NM_001076.3	NP_001067.2	P54855	UDB15_HUMAN			1	703	-			232					A6NDX0|A6NNJ4|A8K054|P23765|Q9UK63	Nonsense_Mutation	SNP	ENST00000338206.5	37	c.694A>T	CCDS3524.1	.	.	.	.	.	.	.	.	.	.	t	12.06	1.824164	0.32237	.	.	ENSG00000196620	ENST00000338206	.	.	.	2.79	0.351	0.16042	.	1.408510	0.05267	U	0.516765	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	5.6952	0.17851	0.0:0.2793:0.0:0.7207	.	.	.	.	X	232	.	ENSP00000341045:K232X	K	-	1	0	UGT2B15	69218238	0.002000	0.14202	0.007000	0.13788	0.003000	0.03518	0.722000	0.25925	0.289000	0.22422	-0.499000	0.04595	AAG		0.313	UGT2B15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365172.1	NM_001076		54	290	0	0	0	1	0	54	290				
SLCO1A2	6579	broad.mit.edu	37	12	21446919	21446919	+	Missense_Mutation	SNP	A	A	G			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr12:21446919A>G	ENST00000307378.6	-	12	2117	c.1397T>C	c.(1396-1398)cTt>cCt	p.L466P	SLCO1A2_ENST00000537524.1_Missense_Mutation_p.L334P|SLCO1A2_ENST00000452078.1_Missense_Mutation_p.L466P|SLCO1A2_ENST00000390670.3_Missense_Mutation_p.L464P|SLCO1A2_ENST00000458504.1_Missense_Mutation_p.L334P	NM_134431.3	NP_602307.1	P46721	SO1A2_HUMAN	solute carrier organic anion transporter family, member 1A2	466	Kazal-like. {ECO:0000255|PROSITE- ProRule:PRU00798}.				bile acid and bile salt transport (GO:0015721)|bile acid metabolic process (GO:0008206)|organic anion transport (GO:0015711)|small molecule metabolic process (GO:0044281)|sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	organic anion transmembrane transporter activity (GO:0008514)			breast(2)|endometrium(2)|kidney(4)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(6)|upper_aerodigestive_tract(1)	48					Aminohippurate(DB00345)|Atorvastatin(DB01076)|Bumetanide(DB00887)|Chlorambucil(DB00291)|Conjugated Estrogens(DB00286)|Cyclosporine(DB00091)|Dexamethasone(DB01234)|Digitoxin(DB01396)|Digoxin(DB00390)|Dinoprostone(DB00917)|Enalapril(DB00584)|Erythromycin(DB00199)|Estradiol(DB00783)|Estriol(DB04573)|Estrone(DB00655)|Fexofenadine(DB00950)|Glyburide(DB01016)|Hydrocortisone(DB00741)|Ibuprofen(DB01050)|Indinavir(DB00224)|Indomethacin(DB00328)|Ketoconazole(DB01026)|Ketoprofen(DB01009)|Levothyroxine(DB00451)|Liothyronine(DB00279)|Liotrix(DB01583)|Lovastatin(DB00227)|Methotrexate(DB00563)|Methyltestosterone(DB06710)|Mirabegron(DB08893)|Naloxone(DB01183)|Naproxen(DB00788)|Nelfinavir(DB00220)|Ouabain(DB01092)|Pravastatin(DB00175)|Prednisolone(DB00860)|Prednisone(DB00635)|Probenecid(DB01032)|Quinidine(DB00908)|Quinine(DB00468)|Rifampicin(DB01045)|Ritonavir(DB00503)|Rocuronium(DB00728)|Rosuvastatin(DB01098)|Saquinavir(DB01232)|Simvastatin(DB00641)|Spironolactone(DB00421)|Sumatriptan(DB00669)|Tauroursodeoxycholic acid(DB08834)|Testosterone(DB00624)|Tolbutamide(DB01124)|Ursodeoxycholic acid(DB01586)|Verapamil(DB00661)	ACAACCAGCAAGACAAGCTGA	0.403																																						ENST00000307378.6																			0				breast(2)|endometrium(2)|kidney(4)|large_intestine(8)|lung(23)|ovary(1)|pancreas(1)|skin(6)|upper_aerodigestive_tract(1)	48						c.(1396-1398)cTt>cCt		solute carrier organic anion transporter family, member 1A2							119.0	101.0	107.0					12																	21446919		2203	4300	6503	SO:0001583	missense	6579				bile acid metabolic process|sodium-independent organic anion transport	integral to membrane|plasma membrane	bile acid transmembrane transporter activity|organic anion transmembrane transporter activity	g.chr12:21446919A>G		CCDS8686.1	12p12	2013-05-22	2003-11-25	2003-11-26	ENSG00000084453	ENSG00000084453		"""Solute carriers"""	10956	protein-coding gene	gene with protein product		602883	"""solute carrier family 21 (organic anion transporter), member 3"""	SLC21A3		9007731	Standard	NM_134431		Approved	OATP, OATP1A2, OATP-A	uc001rer.3	P46721	OTTHUMG00000156259	ENST00000307378.6:c.1397T>C	12.37:g.21446919A>G	ENSP00000305974:p.Leu466Pro					SLCO1A2_ENST00000458504.1_Missense_Mutation_p.L334P|SLCO1A2_ENST00000452078.1_Missense_Mutation_p.L466P|SLCO1A2_ENST00000537524.1_Missense_Mutation_p.L334P|SLCO1A2_ENST00000390670.3_Missense_Mutation_p.L464P	p.L466P	NM_134431.3	NP_602307.1	P46721	SO1A2_HUMAN			12	2117	-			466			Kazal-like.		Q9UGP7|Q9UL38	Missense_Mutation	SNP	ENST00000307378.6	37	c.1397T>C	CCDS8686.1	.	.	.	.	.	.	.	.	.	.	A	19.58	3.854305	0.71719	.	.	ENSG00000084453	ENST00000307378;ENST00000452078;ENST00000458504;ENST00000537524;ENST00000390670	T;T;T;T;T	0.04603	3.59;3.59;3.59;3.59;3.59	4.93	4.93	0.64822	Proteinase inhibitor I1, Kazal (1);Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);Protease inhibitor, Kazal-type (1);	0.064048	0.64402	D	0.000005	T	0.28995	0.0720	M	0.93197	3.39	0.80722	D	1	D;D	0.89917	1.0;0.994	D;D	0.79108	0.992;0.94	T	0.30387	-0.9980	10	0.38643	T	0.18	.	14.8577	0.70351	1.0:0.0:0.0:0.0	.	464;466	P46721-2;P46721	.;SO1A2_HUMAN	P	466;466;334;334;464	ENSP00000305974:L466P;ENSP00000393973:L466P;ENSP00000394854:L334P;ENSP00000439401:L334P;ENSP00000375088:L464P	ENSP00000305974:L466P	L	-	2	0	SLCO1A2	21338186	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	6.270000	0.72563	1.979000	0.57680	0.477000	0.44152	CTT		0.403	SLCO1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343648.3	NM_021094		47	68	0	0	0	1	0	47	68				
SPATA18	132671	broad.mit.edu	37	4	52943090	52943090	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr4:52943090C>T	ENST00000295213.4	+	7	1278	c.904C>T	c.(904-906)Ctc>Ttc	p.L302F	SPATA18_ENST00000419395.2_Missense_Mutation_p.L270F	NM_145263.2	NP_660306.1	Q8TC71	MIEAP_HUMAN	spermatogenesis associated 18	302	Ser-rich.				cellular response to DNA damage stimulus (GO:0006974)|mitochondrial protein catabolic process (GO:0035694)|mitochondrion degradation by induced vacuole formation (GO:0035695)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrial outer membrane (GO:0005741)				breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41			GBM - Glioblastoma multiforme(4;1.77e-13)|LUSC - Lung squamous cell carcinoma(32;0.00204)			CAAGGCTGCCCTCTTGTCCCG	0.647																																						ENST00000295213.4																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						c.(904-906)Ctc>Ttc		spermatogenesis associated 18							63.0	49.0	54.0					4																	52943090		2203	4300	6503	SO:0001583	missense	132671				mitochondrial protein catabolic process|mitochondrion degradation by induced vacuole formation|response to DNA damage stimulus	mitochondrial outer membrane	protein binding	g.chr4:52943090C>T	BC025396	CCDS3489.1, CCDS75124.1	4q11	2012-01-23	2012-01-23		ENSG00000163071	ENSG00000163071			29579	protein-coding gene	gene with protein product		612814	"""spermatogenesis associated 18 homolog (rat)"""			21300779	Standard	XR_245253		Approved	FLJ32906	uc003gzl.3	Q8TC71	OTTHUMG00000128698	ENST00000295213.4:c.904C>T	4.37:g.52943090C>T	ENSP00000295213:p.Leu302Phe					SPATA18_ENST00000419395.2_Missense_Mutation_p.L270F	p.L302F	NM_145263.2	NP_660306.1	Q8TC71	MIEAP_HUMAN	GBM - Glioblastoma multiforme(4;1.77e-13)|LUSC - Lung squamous cell carcinoma(32;0.00204)		7	1278	+			302			Ser-rich.		B4E2R0|E5RLK1|Q8IY48|Q8N7D7	Missense_Mutation	SNP	ENST00000295213.4	37	c.904C>T	CCDS3489.1	.	.	.	.	.	.	.	.	.	.	C	14.84	2.655392	0.47467	.	.	ENSG00000163071	ENST00000295213;ENST00000419395	T;T	0.57107	0.42;4.21	4.09	3.23	0.37069	.	0.068378	0.64402	D	0.000017	T	0.66346	0.2780	M	0.65975	2.015	0.48571	D	0.99967	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.91635	0.998;0.998;0.999	T	0.68743	-0.5328	10	0.87932	D	0	-15.6488	9.1292	0.36835	0.0:0.8899:0.0:0.1101	.	270;302;302	Q8TC71-2;Q8TC71;Q96M13	.;MIEAP_HUMAN;.	F	302;270	ENSP00000295213:L302F;ENSP00000415309:L270F	ENSP00000295213:L302F	L	+	1	0	SPATA18	52637847	0.997000	0.39634	0.994000	0.49952	0.021000	0.10359	3.667000	0.54547	2.196000	0.70406	0.462000	0.41574	CTC		0.647	SPATA18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250597.2	NM_145263		14	106	0	0	0	1	0	14	106				
ZNF479	90827	broad.mit.edu	37	7	57188501	57188501	+	Silent	SNP	A	A	G			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr7:57188501A>G	ENST00000331162.4	-	5	891	c.621T>C	c.(619-621)caT>caC	p.H207H		NM_033273.1	NP_150376.1	Q96JC4	ZN479_HUMAN	zinc finger protein 479	207					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)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(53)|ovary(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	84			GBM - Glioblastoma multiforme(1;9.18e-12)			TCTCCCTAGTATGAATTACCT	0.328																																						ENST00000331162.4																			0				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(53)|ovary(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	84						c.(619-621)caT>caC		zinc finger protein 479							12.0	11.0	11.0					7																	57188501		1790	4032	5822	SO:0001819	synonymous_variant	90827				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:57188501A>G	AF277624	CCDS43590.1	7p11.2	2013-01-08			ENSG00000185177	ENSG00000185177		"""Zinc fingers, C2H2-type"", ""-"""	23258	protein-coding gene	gene with protein product						11410164	Standard	NM_033273		Approved	KR19	uc010kzo.3	Q96JC4	OTTHUMG00000156682	ENST00000331162.4:c.621T>C	7.37:g.57188501A>G							p.H207H	NM_033273.1	NP_150376.1	Q96JC4	ZN479_HUMAN	GBM - Glioblastoma multiforme(1;9.18e-12)		5	891	-			207						Silent	SNP	ENST00000331162.4	37	c.621T>C	CCDS43590.1																																																																																				0.328	ZNF479-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345302.1	XM_291202		15	43	0	0	0	1	0	15	43				
PDCD11	22984	broad.mit.edu	37	10	105172881	105172881	+	Silent	SNP	C	C	T			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr10:105172881C>T	ENST00000369797.3	+	9	1081	c.987C>T	c.(985-987)gcC>gcT	p.A329A		NM_014976.1	NP_055791.1	Q14690	RRP5_HUMAN	programmed cell death 11	329	S1 motif 3. {ECO:0000255|PROSITE- ProRule:PRU00180}.				mRNA processing (GO:0006397)|rRNA processing (GO:0006364)	cytosol (GO:0005829)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|transcription factor binding (GO:0008134)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	64		Colorectal(252;0.0747)|Breast(234;0.128)		Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208)		AGGTGAGGGCCTGCATCCTTT	0.587																																						ENST00000369797.3																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						c.(985-987)gcC>gcT		programmed cell death 11							98.0	79.0	85.0					10																	105172881		2203	4300	6503	SO:0001819	synonymous_variant	22984				mRNA processing|rRNA processing	nucleolus	RNA binding|transcription factor binding	g.chr10:105172881C>T	D80007	CCDS31276.1	10q24.32	2010-07-06			ENSG00000148843	ENSG00000148843			13408	protein-coding gene	gene with protein product		612333				10229231	Standard	XM_005269647		Approved	KIAA0185, ALG-4, RRP5	uc001kwy.1	Q14690	OTTHUMG00000018988	ENST00000369797.3:c.987C>T	10.37:g.105172881C>T							p.A329A	NM_014976.1	NP_055791.1	Q14690	RRP5_HUMAN		Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208)	9	1081	+		Colorectal(252;0.0747)|Breast(234;0.128)	329			S1 motif 3.		Q2TA92|Q5W093|Q6P2J3|Q86VQ8|Q9H4P1	Silent	SNP	ENST00000369797.3	37	c.987C>T	CCDS31276.1																																																																																				0.587	PDCD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050151.1			66	92	0	0	0	1	0	66	92				
GOLGA6L7P	728310	broad.mit.edu	37	15	29092288	29092288	+	RNA	SNP	G	G	C			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr15:29092288G>C	ENST00000569815.1	-	0	227					NR_047567.1				golgin A6 family-like 7, pseudogene																		TTTTGGTGTCGGTTGCTCCGG	0.507																																						ENST00000569815.1																			0																																																			728310							g.chr15:29092288G>C	AK302238		15q13.1	2012-10-05	2011-04-15	2010-04-20	ENSG00000261649	ENSG00000261649			37442	pseudogene	pseudogene			"""golgi autoantigen, golgin subfamily a, 6-like 7 (pseudogene)"""	GOLGA6L7			Standard	NR_047567		Approved		uc010uar.2		OTTHUMG00000176345		15.37:g.29092288G>C								NR_047567.1						0	227	-									RNA	SNP	ENST00000569815.1	37																																																																																						0.507	GOLGA6L7P-002	PUTATIVE	basic	processed_transcript	pseudogene	OTTHUMT00000431796.1	XR_078490		22	14	0	0	0	1	0	22	14				
SLC19A2	10560	broad.mit.edu	37	1	169446778	169446778	+	Missense_Mutation	SNP	T	T	C			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr1:169446778T>C	ENST00000236137.5	-	2	658	c.422A>G	c.(421-423)tAt>tGt	p.Y141C	SLC19A2_ENST00000367804.4_Intron	NM_006996.2	NP_008927.1	O60779	S19A2_HUMAN	solute carrier family 19 (thiamine transporter), member 2	141					folic acid transport (GO:0015884)|small molecule metabolic process (GO:0044281)|thiamine transport (GO:0015888)|thiamine-containing compound metabolic process (GO:0042723)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	folic acid transporter activity (GO:0008517)|thiamine transmembrane transporter activity (GO:0015234)|thiamine uptake transmembrane transporter activity (GO:0015403)			breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|upper_aerodigestive_tract(1)	11	all_hematologic(923;0.208)				Thiamine(DB00152)	ATAAGAGTAATAGGCAATTTC	0.453																																						ENST00000236137.5																			0				breast(2)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|upper_aerodigestive_tract(1)	11						c.(421-423)tAt>tGt		solute carrier family 19 (thiamine transporter), member 2							88.0	92.0	91.0					1																	169446778		2203	4300	6503	SO:0001583	missense	10560				thiamine-containing compound metabolic process	integral to membrane|plasma membrane	folic acid binding|folic acid transporter activity|reduced folate carrier activity|thiamine uptake transmembrane transporter activity	g.chr1:169446778T>C	AF135488	CCDS1280.1	1q23.3	2013-05-22			ENSG00000117479	ENSG00000117479		"""Solute carriers"""	10938	protein-coding gene	gene with protein product		603941		TRMA		9399900, 10391221	Standard	NM_006996		Approved	THTR1	uc001gge.4	O60779	OTTHUMG00000035452	ENST00000236137.5:c.422A>G	1.37:g.169446778T>C	ENSP00000236137:p.Tyr141Cys					SLC19A2_ENST00000367804.3_Intron|SLC19A2_ENST00000367802.3_Missense_Mutation_p.Y141C	p.Y141C	NM_006996.2	NP_008927.1	O60779	S19A2_HUMAN			2	658	-	all_hematologic(923;0.208)		141					B2R9H0|B4E1X4|Q8WV87|Q9UBL7|Q9UKJ2|Q9UN31|Q9UN43	Missense_Mutation	SNP	ENST00000236137.5	37	c.422A>G	CCDS1280.1	.	.	.	.	.	.	.	.	.	.	T	21.4	4.145027	0.77888	.	.	ENSG00000117479	ENST00000236137;ENST00000367802	D;D	0.93811	-3.29;-3.29	4.87	4.87	0.63330	Major facilitator superfamily domain, general substrate transporter (1);	0.000000	0.85682	D	0.000000	D	0.97077	0.9045	M	0.92604	3.325	0.54753	D	0.999980	D	0.89917	1.0	D	0.97110	1.0	D	0.98107	1.0418	9	0.87932	D	0	-10.5818	14.6458	0.68759	0.0:0.0:0.0:1.0	.	141	O60779	S19A2_HUMAN	C	141	ENSP00000236137:Y141C;ENSP00000356776:Y141C	ENSP00000236137:Y141C	Y	-	2	0	SLC19A2	167713402	1.000000	0.71417	0.997000	0.53966	0.984000	0.73092	7.868000	0.87116	2.048000	0.60808	0.528000	0.53228	TAT		0.453	SLC19A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086106.1	NM_006996		72	121	0	0	0	1	0	72	121				
HECTD2	143279	broad.mit.edu	37	10	93245017	93245017	+	Missense_Mutation	SNP	A	A	G			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr10:93245017A>G	ENST00000298068.5	+	10	1145	c.1051A>G	c.(1051-1053)Atg>Gtg	p.M351V	HECTD2_ENST00000446394.1_Missense_Mutation_p.M355V|HECTD2_ENST00000498446.1_3'UTR|HECTD2_ENST00000536715.1_5'UTR|HECTD2_ENST00000371667.1_Start_Codon_SNP_p.M1V	NM_182765.3	NP_877497	Q5U5R9	HECD2_HUMAN	HECT domain containing E3 ubiquitin protein ligase 2	351					protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			breast(2)|endometrium(2)|kidney(4)|large_intestine(10)|lung(7)|skin(1)|urinary_tract(1)	27						CATTGATCTCATGGAAGAATA	0.318																																					NSCLC(12;376 469 1699 39910 41417)	ENST00000446394.1																			0				breast(2)|endometrium(2)|kidney(4)|large_intestine(10)|lung(7)|skin(1)|urinary_tract(1)	27						c.(1063-1065)Atg>Gtg		HECT domain containing E3 ubiquitin protein ligase 2							95.0	96.0	96.0					10																	93245017		2203	4291	6494	SO:0001583	missense	143279				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	ubiquitin-protein ligase activity	g.chr10:93245017A>G	AK094625	CCDS7414.1, CCDS7415.1, CCDS60591.1	10q23.32	2013-09-20	2012-02-23		ENSG00000165338	ENSG00000165338			26736	protein-coding gene	gene with protein product			"""HECT domain containing 2"""			8619474, 9110174	Standard	NM_001284274		Approved	FLJ37306	uc001khl.2	Q5U5R9	OTTHUMG00000018742	ENST00000298068.5:c.1051A>G	10.37:g.93245017A>G	ENSP00000298068:p.Met351Val					HECTD2_ENST00000298068.5_Missense_Mutation_p.M351V|HECTD2_ENST00000498446.1_3'UTR|HECTD2_ENST00000536715.1_5'UTR|HECTD2_ENST00000371667.1_Start_Codon_SNP_p.M1V	p.M355V			Q5U5R9	HECD2_HUMAN			11	1163	+			351					Q5VZ97|Q5VZ98|Q5VZ99|Q8N1X7|Q8TCP5	Missense_Mutation	SNP	ENST00000298068.5	37	c.1063A>G	CCDS7414.1	.	.	.	.	.	.	.	.	.	.	A	13.23	2.176169	0.38413	.	.	ENSG00000165338	ENST00000446394;ENST00000371668;ENST00000298068;ENST00000371667	T;T;T	0.71579	-0.58;-0.58;1.08	5.6	4.4	0.53042	.	0.040780	0.85682	D	0.000000	T	0.55689	0.1936	N	0.25890	0.77	0.80722	D	1	B;B	0.34372	0.001;0.451	B;B	0.30179	0.008;0.112	T	0.61267	-0.7097	10	0.54805	T	0.06	.	12.3582	0.55188	0.8593:0.1407:0.0:0.0	.	355;351	E7ERR3;Q5U5R9	.;HECD2_HUMAN	V	355;77;351;1	ENSP00000401023:M355V;ENSP00000298068:M351V;ENSP00000360731:M1V	ENSP00000298068:M351V	M	+	1	0	HECTD2	93234997	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	6.659000	0.74412	2.130000	0.65690	0.528000	0.53228	ATG		0.318	HECTD2-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098620.1			36	105	0	0	0	1	0	36	105				
OR5B2	390190	broad.mit.edu	37	11	58190401	58190401	+	Missense_Mutation	SNP	A	A	C			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr11:58190401A>C	ENST00000302581.2	-	1	385	c.334T>G	c.(334-336)Ttg>Gtg	p.L112V		NM_001005566.2	NP_001005566.1	Q96R09	OR5B2_HUMAN	olfactory receptor, family 5, subfamily B, member 2	112						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(2)|large_intestine(2)|lung(19)|ovary(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Esophageal squamous(5;0.0027)	Breast(21;0.0778)				GAGGCCAACAAGTAATTTTCC	0.527																																						ENST00000302581.2																			0				NS(2)|large_intestine(2)|lung(19)|ovary(3)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						c.(334-336)Ttg>Gtg		olfactory receptor, family 5, subfamily B, member 2							127.0	106.0	113.0					11																	58190401		2201	4295	6496	SO:0001583	missense	390190				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:58190401A>C	AB065852	CCDS31550.1	11q12.1	2012-08-09			ENSG00000172365	ENSG00000172365		"""GPCR / Class A : Olfactory receptors"""	8323	protein-coding gene	gene with protein product							Standard	NM_001005566		Approved	OST073	uc010rkg.2	Q96R09	OTTHUMG00000167517	ENST00000302581.2:c.334T>G	11.37:g.58190401A>C	ENSP00000303076:p.Leu112Val						p.L112V	NM_001005566.2	NP_001005566.1	Q96R09	OR5B2_HUMAN			1	385	-	Esophageal squamous(5;0.0027)	Breast(21;0.0778)	112					B2RNJ6|B9EGY7|Q6IEV7|Q8NGF5	Missense_Mutation	SNP	ENST00000302581.2	37	c.334T>G	CCDS31550.1	.	.	.	.	.	.	.	.	.	.	a	7.643	0.681249	0.14907	.	.	ENSG00000172365	ENST00000302581	T	0.00587	6.38	3.82	1.84	0.25277	GPCR, rhodopsin-like superfamily (1);	0.000000	0.28360	U	0.015627	T	0.01092	0.0036	L	0.46567	1.45	0.09310	N	1	D	0.61080	0.989	P	0.58577	0.841	T	0.51474	-0.8701	10	0.56958	D	0.05	-15.5703	5.6448	0.17584	0.1027:0.0:0.5595:0.3378	.	112	Q96R09	OR5B2_HUMAN	V	112	ENSP00000303076:L112V	ENSP00000303076:L112V	L	-	1	2	OR5B2	57946977	0.009000	0.17119	0.005000	0.12908	0.001000	0.01503	0.084000	0.14891	0.368000	0.24481	-0.481000	0.04817	TTG		0.527	OR5B2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394887.2	NM_001005566		48	141	0	0	0	1	0	48	141				
DSP	1832	broad.mit.edu	37	6	7584607	7584607	+	Missense_Mutation	SNP	A	A	G			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr6:7584607A>G	ENST00000379802.3	+	24	7453	c.7112A>G	c.(7111-7113)cAg>cGg	p.Q2371R	DSP_ENST00000418664.2_Missense_Mutation_p.Q1772R	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN	desmoplakin	2371	4.5 X 38 AA tandem repeats (Domain B).|Globular 2.				adherens junction organization (GO:0034332)|apoptotic process (GO:0006915)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|desmosome organization (GO:0002934)|epidermis development (GO:0008544)|intermediate filament organization (GO:0045109)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)|protein localization to adherens junction (GO:0071896)|regulation of heart rate by cardiac conduction (GO:0086091)|single organismal cell-cell adhesion (GO:0016337)|ventricular cardiac muscle cell action potential (GO:0086005)|ventricular compact myocardium morphogenesis (GO:0003223)|wound healing (GO:0042060)	basolateral plasma membrane (GO:0016323)|cornified envelope (GO:0001533)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|intercalated disc (GO:0014704)|intermediate filament (GO:0005882)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)|protein binding, bridging (GO:0030674)|protein kinase C binding (GO:0005080)|scaffold protein binding (GO:0097110)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101	Ovarian(93;0.0584)	all_hematologic(90;0.236)		OV - Ovarian serous cystadenocarcinoma(45;0.000508)		TTAGAAGCACAGATCGCAACC	0.443																																						ENST00000379802.3																			0				biliary_tract(1)|breast(6)|central_nervous_system(7)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|liver(2)|lung(27)|ovary(4)|prostate(1)|skin(8)|stomach(3)|upper_aerodigestive_tract(7)|urinary_tract(5)	101						c.(7111-7113)cAg>cGg		desmoplakin							72.0	73.0	73.0					6																	7584607		2203	4300	6503	SO:0001583	missense	1832				cellular component disassembly involved in apoptosis|keratinocyte differentiation|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural constituent of cytoskeleton	g.chr6:7584607A>G	J05211	CCDS4501.1, CCDS47368.1	6p24.3	2014-09-17	2003-05-20		ENSG00000096696	ENSG00000096696			3052	protein-coding gene	gene with protein product		125647	"""desmoplakin (DPI, DPII)"""			1889810	Standard	NM_004415		Approved	KPPS2, PPKS2, DPI, DPII	uc003mxp.1	P15924	OTTHUMG00000014212	ENST00000379802.3:c.7112A>G	6.37:g.7584607A>G	ENSP00000369129:p.Gln2371Arg					DSP_ENST00000418664.2_Missense_Mutation_p.Q1772R	p.Q2371R	NM_004415.2	NP_004406.2	P15924	DESP_HUMAN		OV - Ovarian serous cystadenocarcinoma(45;0.000508)	24	7453	+	Ovarian(93;0.0584)	all_hematologic(90;0.236)	2371			Globular 2.		B2RTT2|D7RX09|O75993|Q14189|Q9UHN4	Missense_Mutation	SNP	ENST00000379802.3	37	c.7112A>G	CCDS4501.1	.	.	.	.	.	.	.	.	.	.	A	19.08	3.758242	0.69763	.	.	ENSG00000096696	ENST00000379802;ENST00000418664	D;D	0.84873	-1.91;-1.91	5.6	5.6	0.85130	.	0.000000	0.64402	D	0.000013	D	0.93455	0.7912	H	0.95224	3.64	0.34378	D	0.692828	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.94540	0.7744	10	0.38643	T	0.18	.	15.7802	0.78255	1.0:0.0:0.0:0.0	.	1819;2371	Q4LE79;P15924	.;DESP_HUMAN	R	2371;1772	ENSP00000369129:Q2371R;ENSP00000396591:Q1772R	ENSP00000369129:Q2371R	Q	+	2	0	DSP	7529606	1.000000	0.71417	0.994000	0.49952	0.928000	0.56348	9.301000	0.96167	2.127000	0.65507	0.533000	0.62120	CAG		0.443	DSP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039786.2	NM_004415		74	99	0	0	0	1	0	74	99				
PDE10A	10846	broad.mit.edu	37	6	165827151	165827151	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr6:165827151G>T	ENST00000366882.1	-	14	1240	c.1086C>A	c.(1084-1086)taC>taA	p.Y362*	PDE10A_ENST00000539869.2_Nonsense_Mutation_p.Y372*|PDE10A_ENST00000354448.4_Nonsense_Mutation_p.Y362*			Q9Y233	PDE10_HUMAN	phosphodiesterase 10A	362	GAF 2.				blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cGMP catabolic process (GO:0046069)|regulation of cAMP-mediated signaling (GO:0043949)|regulation of protein kinase A signaling (GO:0010738)|signal transduction (GO:0007165)	cytosol (GO:0005829)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity (GO:0004118)|metal ion binding (GO:0046872)			breast(4)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(39)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	71		Breast(66;0.000425)|Prostate(117;0.104)|Ovarian(120;0.221)		OV - Ovarian serous cystadenocarcinoma(33;1.5e-17)|BRCA - Breast invasive adenocarcinoma(81;1.8e-06)|GBM - Glioblastoma multiforme(31;1.92e-05)	Caffeine(DB00201)|Dipyridamole(DB00975)|Papaverine(DB01113)|Tofisopam(DB08811)|Triflusal(DB08814)	TCCGCGTGGTGTAGCCTGTGT	0.468																																					Esophageal Squamous(22;308 615 5753 12038 40624)	ENST00000366882.1																			0				breast(4)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(39)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	71						c.(1084-1086)taC>taA		phosphodiesterase 10A	Dipyridamole(DB00975)						85.0	69.0	74.0					6																	165827151		2203	4300	6503	SO:0001587	stop_gained	10846				platelet activation|signal transduction	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|3',5'-cyclic-GMP phosphodiesterase activity|cAMP binding|cGMP binding|metal ion binding	g.chr6:165827151G>T	AB020593	CCDS47513.1	6q26	2008-03-18			ENSG00000112541	ENSG00000112541	3.1.4.17	"""Phosphodiesterases"""	8772	protein-coding gene	gene with protein product		610652				10373451	Standard	NM_001130690		Approved		uc003quo.3	Q9Y233	OTTHUMG00000015986	ENST00000366882.1:c.1086C>A	6.37:g.165827151G>T	ENSP00000355847:p.Tyr362*					PDE10A_ENST00000539869.2_Nonsense_Mutation_p.Y372*|PDE10A_ENST00000354448.4_Nonsense_Mutation_p.Y362*	p.Y362*			Q9Y233	PDE10_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;1.5e-17)|BRCA - Breast invasive adenocarcinoma(81;1.8e-06)|GBM - Glioblastoma multiforme(31;1.92e-05)	14	1240	-		Breast(66;0.000425)|Prostate(117;0.104)|Ovarian(120;0.221)	362			GAF 2.		Q6FHX1|Q9HCP9|Q9NTV4|Q9ULW9|Q9Y5T1	Nonsense_Mutation	SNP	ENST00000366882.1	37	c.1086C>A		.	.	.	.	.	.	.	.	.	.	G	36	5.942248	0.97128	.	.	ENSG00000112541	ENST00000366882;ENST00000539869;ENST00000343842;ENST00000354448;ENST00000392126	.	.	.	5.63	-0.135	0.13477	.	2.695020	0.00983	N	0.003404	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	11.1699	0.48565	0.4101:0.0:0.5899:0.0	.	.	.	.	X	362;390;372;362;361	.	ENSP00000341187:Y372X	Y	-	3	2	PDE10A	165747141	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.080000	0.41586	0.028000	0.15324	-0.150000	0.13652	TAC		0.468	PDE10A-001	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000043031.1			42	74	1	0	9.62906e-15	1	1.12295e-14	42	74				
IRX1	79192	broad.mit.edu	37	5	3599660	3599660	+	Missense_Mutation	SNP	C	C	A	rs143830823		TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr5:3599660C>A	ENST00000302006.3	+	2	650	c.598C>A	c.(598-600)Cag>Aag	p.Q200K	CTD-2012M11.3_ENST00000559410.1_RNA	NM_024337.3	NP_077313.3	P78414	IRX1_HUMAN	iroquois homeobox 1	200					proximal/distal pattern formation involved in metanephric nephron development (GO:0072272)|regulation of transcription, DNA-templated (GO:0006355)|specification of loop of Henle identity (GO:0072086)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			biliary_tract(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|pancreas(1)|prostate(5)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						CAGCAAGGACCAGGAAGATGG	0.622																																						ENST00000302006.3																			0				biliary_tract(1)|endometrium(5)|kidney(2)|large_intestine(5)|lung(18)|ovary(2)|pancreas(1)|prostate(5)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	43						c.(598-600)Cag>Aag		iroquois homeobox 1							81.0	70.0	74.0					5																	3599660		2203	4300	6503	SO:0001583	missense	79192					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr5:3599660C>A	U90307	CCDS34132.1	5p15.33	2011-12-16	2007-07-13		ENSG00000170549	ENSG00000170549		"""Homeoboxes / TALE class"""	14358	protein-coding gene	gene with protein product		606197					Standard	NM_024337		Approved	IRX-5	uc003jde.3	P78414	OTTHUMG00000161632	ENST00000302006.3:c.598C>A	5.37:g.3599660C>A	ENSP00000305244:p.Gln200Lys					CTD-2012M11.3_ENST00000559410.1_RNA	p.Q200K	NM_024337.3	NP_077313.3	P78414	IRX1_HUMAN			2	650	+			200					Q7Z2F8|Q8N312	Missense_Mutation	SNP	ENST00000302006.3	37	c.598C>A	CCDS34132.1	.	.	.	.	.	.	.	.	.	.	C	9.687	1.150878	0.21371	.	.	ENSG00000170549	ENST00000302006	T	0.57273	0.41	4.65	4.65	0.58169	.	0.165419	0.49916	D	0.000130	T	0.35189	0.0923	N	0.12182	0.205	0.28798	N	0.898953	P	0.41748	0.761	B	0.38616	0.277	T	0.32903	-0.9889	10	0.44086	T	0.13	.	14.2663	0.66121	0.0:1.0:0.0:0.0	.	200	P78414	IRX1_HUMAN	K	200	ENSP00000305244:Q200K	ENSP00000305244:Q200K	Q	+	1	0	IRX1	3652660	1.000000	0.71417	1.000000	0.80357	0.715000	0.41141	2.958000	0.49145	2.089000	0.63090	0.609000	0.83330	CAG		0.622	IRX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365546.1	NM_024337		77	120	1	0	6.06247e-24	1	7.65409e-24	77	120				
ZNF366	167465	broad.mit.edu	37	5	71756185	71756185	+	Missense_Mutation	SNP	A	A	T			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr5:71756185A>T	ENST00000318442.5	-	2	1629	c.1139T>A	c.(1138-1140)cTg>cAg	p.L380Q		NM_152625.1	NP_689838.1	Q8N895	ZN366_HUMAN	zinc finger protein 366	380					negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|estrogen receptor binding (GO:0030331)|metal ion binding (GO:0046872)|transcription corepressor activity (GO:0003714)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	35		Lung NSC(167;0.0247)|Ovarian(174;0.0908)|Prostate(461;0.155)		OV - Ovarian serous cystadenocarcinoma(47;2.51e-53)		GTGTCTCTTCAGCTGGGCCAA	0.632																																						ENST00000318442.5																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	35						c.(1138-1140)cTg>cAg		zinc finger protein 366							107.0	92.0	97.0					5																	71756185		2203	4300	6503	SO:0001583	missense	167465				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr5:71756185A>T	AK097115	CCDS4015.1	5q13.1	2013-01-08			ENSG00000178175	ENSG00000178175		"""Zinc fingers, C2H2-type"""	18316	protein-coding gene	gene with protein product		610159					Standard	NM_152625		Approved	FLJ39796	uc003kce.1	Q8N895	OTTHUMG00000100965	ENST00000318442.5:c.1139T>A	5.37:g.71756185A>T	ENSP00000313158:p.Leu380Gln						p.L380Q	NM_152625.1	NP_689838.1	Q8N895	ZN366_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;2.51e-53)	2	1629	-		Lung NSC(167;0.0247)|Ovarian(174;0.0908)|Prostate(461;0.155)	380					Q5HYI9|Q7RTV4	Missense_Mutation	SNP	ENST00000318442.5	37	c.1139T>A	CCDS4015.1	.	.	.	.	.	.	.	.	.	.	A	23.2	4.382169	0.82792	.	.	ENSG00000178175	ENST00000318442	T	0.42513	0.97	5.8	5.8	0.92144	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.52532	D	0.000067	T	0.71567	0.3355	M	0.90082	3.085	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.78409	-0.2215	10	0.87932	D	0	-36.7879	16.1412	0.81522	1.0:0.0:0.0:0.0	.	380	Q8N895	ZN366_HUMAN	Q	380	ENSP00000313158:L380Q	ENSP00000313158:L380Q	L	-	2	0	ZNF366	71791941	1.000000	0.71417	0.995000	0.50966	0.964000	0.63967	9.339000	0.96797	2.211000	0.71520	0.459000	0.35465	CTG		0.632	ZNF366-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218574.3			37	91	0	0	0	1	0	37	91				
CNTD2	79935	broad.mit.edu	37	19	40730639	40730639	+	Missense_Mutation	SNP	A	A	C	rs199816045		TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr19:40730639A>C	ENST00000430325.2	-	2	395	c.347T>G	c.(346-348)gTc>gGc	p.V116G	CNTD2_ENST00000433940.1_Intron|CNTD2_ENST00000513948.1_Missense_Mutation_p.V10G	NM_024877.3	NP_079153.2	Q9H8S5	CNTD2_HUMAN	cyclin N-terminal domain containing 2	116	Cyclin N-terminal.				regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)					lung(1)|prostate(1)	2						GTGCACCTGGACCAGCCAGTC	0.697																																						ENST00000430325.2																			0				lung(1)|prostate(1)	2						c.(346-348)gTc>gGc		cyclin N-terminal domain containing 2							22.0	37.0	32.0					19																	40730639		692	1591	2283	SO:0001583	missense	79935				regulation of cyclin-dependent protein kinase activity		protein kinase binding	g.chr19:40730639A>C	AK023327	CCDS12551.1, CCDS12551.2	19q13.2	2014-07-03				ENSG00000105219			25805	protein-coding gene	gene with protein product	"""cyclin P"""					11237006	Standard	NM_024877		Approved	FLJ13265, CCNP	uc010xvi.2	Q9H8S5		ENST00000430325.2:c.347T>G	19.37:g.40730639A>C	ENSP00000396755:p.Val116Gly					CNTD2_ENST00000513948.1_Missense_Mutation_p.V10G|CNTD2_ENST00000433940.1_Intron	p.V116G	NM_024877.3	NP_079153.2	B4DX65	B4DX65_HUMAN			2	395	-			116					B4DX65	Missense_Mutation	SNP	ENST00000430325.2	37	c.347T>G	CCDS12551.2	.	.	.	.	.	.	.	.	.	.	A	15.10	2.732544	0.48939	.	.	ENSG00000105219	ENST00000430325;ENST00000513948	T;T	0.13538	2.58;2.58	5.57	5.57	0.84162	.	.	.	.	.	T	0.22551	0.0544	M	0.70787	2.145	0.80722	D	1	B	0.32128	0.357	B	0.38225	0.268	T	0.01940	-1.1243	9	0.87932	D	0	.	13.2323	0.59951	1.0:0.0:0.0:0.0	.	116	B4DX65	.	G	116;10	ENSP00000396755:V116G;ENSP00000425529:V10G	ENSP00000396755:V116G	V	-	2	0	CNTD2	45422479	0.993000	0.37304	0.973000	0.42090	0.579000	0.36224	5.473000	0.66774	2.107000	0.64212	0.459000	0.35465	GTC		0.697	CNTD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360785.1	NM_024877		7	28	0	0	0	1	0	7	28				
DYSF	8291	broad.mit.edu	37	2	71886125	71886125	+	Nonsense_Mutation	SNP	C	C	T	rs398123789		TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr2:71886125C>T	ENST00000258104.3	+	43	5033	c.4756C>T	c.(4756-4758)Cga>Tga	p.R1586*	DYSF_ENST00000409744.1_Nonsense_Mutation_p.R1594*|DYSF_ENST00000413539.2_Nonsense_Mutation_p.R1617*|DYSF_ENST00000479049.2_3'UTR|DYSF_ENST00000410020.3_Nonsense_Mutation_p.R1625*|DYSF_ENST00000429174.2_Nonsense_Mutation_p.R1607*|DYSF_ENST00000409582.3_Nonsense_Mutation_p.R1624*|DYSF_ENST00000410041.1_Nonsense_Mutation_p.R1604*|DYSF_ENST00000409651.1_Nonsense_Mutation_p.R1618*|DYSF_ENST00000394120.2_Nonsense_Mutation_p.R1587*|DYSF_ENST00000409366.1_Nonsense_Mutation_p.R1608*|DYSF_ENST00000409762.1_Nonsense_Mutation_p.R1603*	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN	dysferlin	1586	C2 6. {ECO:0000255|PROSITE- ProRule:PRU00041}.				plasma membrane repair (GO:0001778)|vesicle fusion (GO:0006906)	cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|phospholipid binding (GO:0005543)			autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111						CTACATTGTCCGAGCATTTGG	0.597																																						ENST00000258104.3																			0				autonomic_ganglia(2)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(22)|lung(57)|ovary(3)|pancreas(1)|prostate(2)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(2)	111	GRCh37	CM013384	DYSF	M		c.(4756-4758)Cga>Tga		dysferlin							84.0	86.0	85.0					2																	71886125		2203	4300	6503	SO:0001587	stop_gained	8291					cytoplasmic vesicle membrane|integral to membrane|sarcolemma	calcium-dependent phospholipid binding	g.chr2:71886125C>T	AF075575	CCDS1918.1, CCDS46323.1, CCDS46324.1, CCDS46325.1, CCDS46326.1, CCDS46327.1, CCDS46328.1, CCDS46329.1, CCDS46330.1, CCDS46331.1, CCDS46332.1	2p13.3	2014-09-17	2013-09-12		ENSG00000135636	ENSG00000135636			3097	protein-coding gene	gene with protein product	"""fer-1-like family member 1"""	603009	"""limb girdle muscular dystrophy 2B (autosomal recessive)"""	LGMD2B		8320700	Standard	NM_003494		Approved	FER1L1	uc010fen.3	O75923	OTTHUMG00000129757	ENST00000258104.3:c.4756C>T	2.37:g.71886125C>T	ENSP00000258104:p.Arg1586*					DYSF_ENST00000413539.2_Nonsense_Mutation_p.R1617*|DYSF_ENST00000409651.1_Nonsense_Mutation_p.R1618*|DYSF_ENST00000410020.3_Nonsense_Mutation_p.R1625*|DYSF_ENST00000479049.2_3'UTR|DYSF_ENST00000409582.3_Nonsense_Mutation_p.R1624*|DYSF_ENST00000409744.1_Nonsense_Mutation_p.R1594*|DYSF_ENST00000394120.2_Nonsense_Mutation_p.R1587*|DYSF_ENST00000429174.2_Nonsense_Mutation_p.R1607*|DYSF_ENST00000410041.1_Nonsense_Mutation_p.R1604*|DYSF_ENST00000409762.1_Nonsense_Mutation_p.R1603*|DYSF_ENST00000409366.1_Nonsense_Mutation_p.R1608*	p.R1586*	NM_001130976.1|NM_003494.3	NP_001124448.1|NP_003485.1	O75923	DYSF_HUMAN			43	5033	+			1586			C2 5.		A0FK00|B1PZ70|B1PZ71|B1PZ72|B1PZ73|B1PZ74|B1PZ75|B1PZ76|B1PZ77|B1PZ78|B1PZ79|B1PZ80|B1PZ81|B3KQB9|O75696|Q09EX5|Q0H395|Q53QY3|Q53TD2|Q8TEL8|Q9UEN7	Nonsense_Mutation	SNP	ENST00000258104.3	37	c.4756C>T	CCDS1918.1	.	.	.	.	.	.	.	.	.	.	C	47	13.484476	0.99745	.	.	ENSG00000135636	ENST00000413539;ENST00000409762;ENST00000409582;ENST00000429174;ENST00000258104;ENST00000409651;ENST00000394120;ENST00000409744;ENST00000409366;ENST00000410020;ENST00000410041	.	.	.	5.63	3.84	0.44239	.	0.601331	0.18219	N	0.147929	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-3.6752	6.8748	0.24141	0.3106:0.6088:0.0:0.0806	.	.	.	.	X	1617;1603;1624;1607;1586;1618;1587;1594;1608;1625;1604	.	ENSP00000258104:R1586X	R	+	1	2	DYSF	71739633	1.000000	0.71417	0.923000	0.36655	0.994000	0.84299	3.113000	0.50376	0.731000	0.32448	-0.145000	0.13849	CGA		0.597	DYSF-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000251970.3	NM_003494		111	194	0	0	0	1	0	111	194				
FAM86DP	692099	broad.mit.edu	37	3	75475709	75475709	+	RNA	SNP	T	T	C			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr3:75475709T>C	ENST00000459803.1	-	0	820					NR_024241.1				family with sequence similarity 86, member D, pseudogene									p.I261V(1)									CTCCGCAGGATCCCGACCAGC	0.562																																						ENST00000459803.1																			1	Substitution - Missense(1)	p.I261V(1)	kidney(1)																																																692099							g.chr3:75475709T>C	BC016686		3p12.3	2010-06-04	2010-06-04	2010-06-04	ENSG00000244026	ENSG00000244026			32659	pseudogene	pseudogene			"""family with sequence similarity 86, member D"""	FAM86D			Standard	NR_024241		Approved		uc003dpp.4		OTTHUMG00000158855		3.37:g.75475709T>C								NR_024241.1						0	820	-									RNA	SNP	ENST00000459803.1	37																																																																																						0.562	FAM86DP-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000352425.1	NR_024241		5	115	0	0	0	1	0	5	115				
ZNF569	148266	broad.mit.edu	37	19	37904957	37904957	+	Silent	SNP	G	G	A			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr19:37904957G>A	ENST00000316950.6	-	6	1160	c.603C>T	c.(601-603)ctC>ctT	p.L201L	ZNF569_ENST00000392150.2_Silent_p.L42L|ZNF569_ENST00000392149.2_Silent_p.L201L	NM_152484.2	NP_689697.2	Q5MCW4	ZN569_HUMAN	zinc finger protein 569	201					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(5)|endometrium(4)|large_intestine(16)|lung(11)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	40			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			GATGTCTGATGAGGTCCAAAG	0.358																																						ENST00000316950.6																			0				breast(5)|endometrium(4)|large_intestine(16)|lung(11)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						c.(601-603)ctC>ctT		zinc finger protein 569							67.0	68.0	68.0					19																	37904957		2203	4300	6503	SO:0001819	synonymous_variant	148266				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:37904957G>A	AL833408	CCDS12503.1	19q13.12	2013-09-20			ENSG00000196437	ENSG00000196437		"""Zinc fingers, C2H2-type"", ""-"""	24737	protein-coding gene	gene with protein product		613904				12477932	Standard	NM_152484		Approved	FLJ32053, ZAP1	uc002ogi.3	Q5MCW4	OTTHUMG00000048172	ENST00000316950.6:c.603C>T	19.37:g.37904957G>A						ZNF569_ENST00000392150.2_Silent_p.L42L|ZNF569_ENST00000392149.2_Silent_p.L201L	p.L201L	NM_152484.2	NP_689697.2	Q5MCW4	ZN569_HUMAN	COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)		6	1160	-			201					A8K1S2|Q15925|Q17RR6|Q96MQ2	Silent	SNP	ENST00000316950.6	37	c.603C>T	CCDS12503.1																																																																																				0.358	ZNF569-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109594.2	NM_152484		58	64	0	0	0	1	0	58	64				
PPP2R5D	5528	broad.mit.edu	37	6	42978983	42978983	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr6:42978983C>T	ENST00000485511.1	+	16	1947	c.1768C>T	c.(1768-1770)Cgg>Tgg	p.R590W	PPP2R5D_ENST00000472118.1_Missense_Mutation_p.R582W|KLHDC3_ENST00000326974.4_5'Flank|PPP2R5D_ENST00000461010.1_Missense_Mutation_p.R484W|PPP2R5D_ENST00000394110.3_Missense_Mutation_p.R558W	NM_001270476.1|NM_006245.3	NP_001257405.1|NP_006236.1	Q14738	2A5D_HUMAN	protein phosphatase 2, regulatory subunit B', delta	590					carbohydrate metabolic process (GO:0005975)|dephosphorylation (GO:0016311)|energy reserve metabolic process (GO:0006112)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|innate immune response (GO:0045087)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|nervous system development (GO:0007399)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of catalytic activity (GO:0050790)|small molecule metabolic process (GO:0044281)|stress-activated MAPK cascade (GO:0051403)|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)|nucleus (GO:0005634)|protein phosphatase type 2A complex (GO:0000159)	protein phosphatase type 2A regulator activity (GO:0008601)|protein serine/threonine phosphatase activity (GO:0004722)			NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	25			Colorectal(64;0.00237)|all cancers(41;0.00411)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0664)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)			GGCGCACAAGCGGGCGGAAGA	0.607																																					Melanoma(63;587 1613 29742 31770)	ENST00000485511.1																			0				NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(4)|urinary_tract(1)	25						c.(1768-1770)Cgg>Tgg		protein phosphatase 2, regulatory subunit B', delta							89.0	86.0	87.0					6																	42978983		2203	4300	6503	SO:0001583	missense	5528				nervous system development|signal transduction	cytoplasm|nucleus|protein phosphatase type 2A complex	protein binding|protein phosphatase type 2A regulator activity	g.chr6:42978983C>T	L76702	CCDS4878.1, CCDS43464.1, CCDS55002.1	6p21.1	2010-06-18	2010-04-14		ENSG00000112640	ENSG00000112640		"""Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"""	9312	protein-coding gene	gene with protein product		601646	"""protein phosphatase 2, regulatory subunit B (B56), delta isoform"", ""protein phosphatase 2, regulatory subunit B', delta isoform"""			7592815	Standard	NM_006245		Approved	B56D	uc003oth.4	Q14738	OTTHUMG00000014716	ENST00000485511.1:c.1768C>T	6.37:g.42978983C>T	ENSP00000417963:p.Arg590Trp					PPP2R5D_ENST00000461010.1_Missense_Mutation_p.R484W|PPP2R5D_ENST00000472118.1_Missense_Mutation_p.R582W|PPP2R5D_ENST00000394110.3_Missense_Mutation_p.R558W	p.R590W	NM_001270476.1|NM_006245.3	NP_001257405.1|NP_006236.1	Q14738	2A5D_HUMAN	Colorectal(64;0.00237)|all cancers(41;0.00411)|COAD - Colon adenocarcinoma(64;0.00473)|OV - Ovarian serous cystadenocarcinoma(102;0.0664)|KIRC - Kidney renal clear cell carcinoma(15;0.133)|Kidney(15;0.188)		16	1947	+			590					A8K3I9|B5BUA6|O00494|O00696|Q15171|Q5TC39	Missense_Mutation	SNP	ENST00000485511.1	37	c.1768C>T	CCDS4878.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	11.98|11.98	1.799461|1.799461	0.31869|0.31869	.|.	.|.	ENSG00000112640|ENSG00000112640	ENST00000470467|ENST00000485511;ENST00000394110;ENST00000472118;ENST00000541610;ENST00000461010	.|T;T;T;T	.|0.58506	.|0.35;0.33;0.34;0.37	5.49|5.49	3.52|3.52	0.40303|0.40303	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.66416|0.66416	0.2787|0.2787	M|M	0.81497|0.81497	2.545|2.545	0.58432|0.58432	D|D	0.999991|0.999991	.|D;D;D;D	.|0.89917	.|1.0;1.0;1.0;1.0	.|D;D;D;D	.|0.91635	.|0.996;0.999;0.995;0.998	T|T	0.71045|0.71045	-0.4706|-0.4706	5|10	.|0.87932	.|D	.|0	-7.7766|-7.7766	8.2947|8.2947	0.31978|0.31978	0.2562:0.656:0.0:0.0877|0.2562:0.656:0.0:0.0877	.|.	.|484;572;590;558	.|Q14738-3;F5GYS1;Q14738;Q14738-2	.|.;.;2A5D_HUMAN;.	V|W	491|590;558;582;572;484	.|ENSP00000417963:R590W;ENSP00000377669:R558W;ENSP00000420550:R582W;ENSP00000420674:R484W	.|ENSP00000377669:R558W	A|R	+|+	2|1	0|2	PPP2R5D|PPP2R5D	43086961|43086961	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.102000|0.102000	0.19082|0.19082	0.819000|0.819000	0.27308|0.27308	1.331000|1.331000	0.45412|0.45412	-0.136000|-0.136000	0.14681|0.14681	GCG|CGG		0.607	PPP2R5D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040573.3	NM_006245		55	208	0	0	0	1	0	55	208				
LAMA1	284217	broad.mit.edu	37	18	7016508	7016508	+	Missense_Mutation	SNP	G	G	C			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr18:7016508G>C	ENST00000389658.3	-	21	3064	c.2971C>G	c.(2971-2973)Cag>Gag	p.Q991E		NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN	laminin, alpha 1	991	Laminin EGF-like 10. {ECO:0000255|PROSITE-ProRule:PRU00460}.				axon guidance (GO:0007411)|branching involved in salivary gland morphogenesis (GO:0060445)|cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment of epithelial cell apical/basal polarity (GO:0045198)|extracellular matrix organization (GO:0030198)|morphogenesis of an epithelial sheet (GO:0002011)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of embryonic development (GO:0045995)|retinal blood vessel morphogenesis (GO:0061304)	basement membrane (GO:0005604)|cell-cell junction (GO:0005911)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|laminin-1 complex (GO:0005606)|laminin-3 complex (GO:0005608)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|glycosphingolipid binding (GO:0043208)			NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205		Colorectal(10;0.172)				CTACCATCCTGGTAGGCGTAG	0.522																																						ENST00000389658.3																			0				NS(4)|breast(7)|central_nervous_system(3)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(49)|liver(1)|lung(71)|ovary(9)|pancreas(3)|prostate(5)|skin(11)|stomach(7)|upper_aerodigestive_tract(8)|urinary_tract(3)	205						c.(2971-2973)Cag>Gag		laminin, alpha 1	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						139.0	98.0	112.0					18																	7016508		2203	4300	6503	SO:0001583	missense	284217				axon guidance|cell adhesion|cell surface receptor linked signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development	extracellular space|laminin-1 complex|laminin-3 complex	extracellular matrix structural constituent|receptor binding	g.chr18:7016508G>C	X58531	CCDS32787.1	18p11.3	2013-03-01			ENSG00000101680	ENSG00000101680		"""Laminins"""	6481	protein-coding gene	gene with protein product		150320		LAMA		2591971	Standard	NM_005559		Approved		uc002knm.3	P25391	OTTHUMG00000133478	ENST00000389658.3:c.2971C>G	18.37:g.7016508G>C	ENSP00000374309:p.Gln991Glu						p.Q991E	NM_005559.3	NP_005550.2	P25391	LAMA1_HUMAN			21	3064	-		Colorectal(10;0.172)	991			Laminin EGF-like 10.			Missense_Mutation	SNP	ENST00000389658.3	37	c.2971C>G	CCDS32787.1	.	.	.	.	.	.	.	.	.	.	G	10.93	1.491266	0.26774	.	.	ENSG00000101680	ENST00000389658	T	0.60797	0.16	5.8	4.91	0.64330	EGF-like, laminin (4);	0.369375	0.28257	N	0.016009	T	0.47911	0.1471	L	0.45470	1.425	0.33058	D	0.533715	B	0.14012	0.009	B	0.14578	0.011	T	0.52094	-0.8621	10	0.05436	T	0.98	.	16.1264	0.81397	0.0:0.0:0.8652:0.1348	.	991	P25391	LAMA1_HUMAN	E	991	ENSP00000374309:Q991E	ENSP00000374309:Q991E	Q	-	1	0	LAMA1	7006508	1.000000	0.71417	0.953000	0.39169	0.547000	0.35210	3.840000	0.55843	1.433000	0.47394	0.643000	0.83706	CAG		0.522	LAMA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257369.1	NM_005559		68	230	0	0	0	1	0	68	230				
TRBV25-1	28562	broad.mit.edu	37	7	142378982	142378982	+	RNA	SNP	A	A	T			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr7:142378982A>T	ENST00000390398.3	+	0	287									T cell receptor beta variable 25-1																		CTCTGAGTCAACAGTCTCCAG	0.478																																						ENST00000390398.3																			0																				105.0	102.0	103.0					7																	142378982		1909	4128	6037			28562							g.chr7:142378982A>T	L27610		7q34	2012-02-07			ENSG00000211751	ENSG00000211751		"""T cell receptors / TRB locus"""	12205	other	T cell receptor gene						8650574	Standard	NG_001333		Approved	TRBV251, TCRBV11S1A1T, TCRBV25S1			OTTHUMG00000158868		7.37:g.142378982A>T														0	287	+									RNA	SNP	ENST00000390398.3	37																																																																																						0.478	TRBV25-1-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	TR_V_gene	TR_V_gene	OTTHUMT00000352476.2	NG_001333		90	140	0	0	0	1	0	90	140				
MDN1	23195	broad.mit.edu	37	6	90448144	90448144	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr6:90448144C>T	ENST00000369393.3	-	33	4739	c.4624G>A	c.(4624-4626)Gaa>Aaa	p.E1542K	MDN1_ENST00000428876.1_Missense_Mutation_p.E1542K			Q9NU22	MDN1_HUMAN	MDN1, midasin homolog (yeast)	1542					ATP catabolic process (GO:0006200)|protein complex assembly (GO:0006461)	cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|unfolded protein binding (GO:0051082)			NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)		BRCA - Breast invasive adenocarcinoma(108;0.0193)		CACCATATTTCTGTAAACCGG	0.383																																						ENST00000369393.3																			0				NS(1)|breast(13)|central_nervous_system(2)|cervix(3)|endometrium(22)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(52)|liver(1)|lung(83)|ovary(10)|pancreas(1)|prostate(10)|skin(6)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	218						c.(4624-4626)Gaa>Aaa		MDN1, midasin homolog (yeast)							90.0	88.0	89.0					6																	90448144		2203	4300	6503	SO:0001583	missense	23195				protein complex assembly|regulation of protein complex assembly	nucleus	ATP binding|ATPase activity|unfolded protein binding	g.chr6:90448144C>T	AF503925	CCDS5024.1	6q15	2014-01-28			ENSG00000112159	ENSG00000112159			18302	protein-coding gene	gene with protein product						9205841, 12102729	Standard	XM_005248699		Approved	KIAA0301	uc003pnn.1	Q9NU22	OTTHUMG00000015213	ENST00000369393.3:c.4624G>A	6.37:g.90448144C>T	ENSP00000358400:p.Glu1542Lys					MDN1_ENST00000428876.1_Missense_Mutation_p.E1542K	p.E1542K			Q9NU22	MDN1_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0193)	33	4739	-		all_cancers(76;1.47e-06)|Acute lymphoblastic leukemia(125;2.23e-10)|Prostate(29;5.55e-10)|all_hematologic(105;2.42e-06)|all_epithelial(107;0.00246)	1542					O15019|Q5T794	Missense_Mutation	SNP	ENST00000369393.3	37	c.4624G>A	CCDS5024.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.135351	0.77662	.	.	ENSG00000112159	ENST00000369393;ENST00000428876	T;T	0.39056	1.1;1.1	5.62	4.74	0.60224	ATPase, AAA+ type, core (1);	0.000000	0.85682	D	0.000000	T	0.63426	0.2510	M	0.88241	2.94	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.73385	-0.3999	10	0.66056	D	0.02	.	15.7875	0.78319	0.1373:0.8627:0.0:0.0	.	1542	Q9NU22	MDN1_HUMAN	K	1542	ENSP00000358400:E1542K;ENSP00000413970:E1542K	ENSP00000358400:E1542K	E	-	1	0	MDN1	90504865	1.000000	0.71417	0.984000	0.44739	0.983000	0.72400	7.534000	0.82004	1.337000	0.45525	0.557000	0.71058	GAA		0.383	MDN1-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041514.2			7	170	0	0	0	1	0	7	170				
ZNF750	79755	broad.mit.edu	37	17	80790186	80790186	+	Missense_Mutation	SNP	A	A	G			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr17:80790186A>G	ENST00000269394.3	-	2	978	c.145T>C	c.(145-147)Tgt>Cgt	p.C49R	TBCD_ENST00000355528.4_Intron|ZNF750_ENST00000572562.1_Intron|TBCD_ENST00000539345.2_Intron|TBCD_ENST00000397466.2_Intron	NM_024702.2	NP_078978.2	Q32MQ0	ZN750_HUMAN	zinc finger protein 750	49					cell differentiation (GO:0030154)|epidermis development (GO:0008544)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(3)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	31	Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0514)|all_epithelial(8;0.0748)	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.149)			GAGTTTTTACAAAGACCATAC	0.438																																						ENST00000269394.3																			0				NS(3)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(4)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	31						c.(145-147)Tgt>Cgt		zinc finger protein 750							114.0	107.0	109.0					17																	80790186		2203	4300	6503	SO:0001583	missense	79755					intracellular	zinc ion binding	g.chr17:80790186A>G	AK023903	CCDS11819.1	17q25.3	2008-05-02				ENSG00000141579			25843	protein-coding gene	gene with protein product		610226				16751772	Standard	NM_024702		Approved	FLJ13841, Zfp750	uc002kga.3	Q32MQ0		ENST00000269394.3:c.145T>C	17.37:g.80790186A>G	ENSP00000269394:p.Cys49Arg					ZNF750_ENST00000572562.1_Intron|TBCD_ENST00000397466.2_Intron|TBCD_ENST00000355528.4_Intron|TBCD_ENST00000539345.2_Intron	p.C49R	NM_024702.2	NP_078978.2	Q32MQ0	ZN750_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0868)|BRCA - Breast invasive adenocarcinoma(99;0.149)		2	978	-	Breast(20;0.000523)|all_neural(118;0.0779)	all_cancers(8;0.0514)|all_epithelial(8;0.0748)	49					Q9H899	Missense_Mutation	SNP	ENST00000269394.3	37	c.145T>C	CCDS11819.1	.	.	.	.	.	.	.	.	.	.	A	18.97	3.736049	0.69189	.	.	ENSG00000141579	ENST00000269394	T	0.63417	-0.04	5.7	5.7	0.88788	.	0.000000	0.85682	D	0.000000	T	0.78578	0.4305	M	0.75264	2.295	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.79492	-0.1781	9	.	.	.	-17.2223	15.1373	0.72579	1.0:0.0:0.0:0.0	.	49	Q32MQ0	ZN750_HUMAN	R	49	ENSP00000269394:C49R	.	C	-	1	0	ZNF750	78383475	1.000000	0.71417	0.958000	0.39756	0.525000	0.34531	9.160000	0.94734	2.166000	0.68216	0.533000	0.62120	TGT		0.438	ZNF750-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439074.2	NM_024702		104	159	0	0	0	1	0	104	159				
SPAG17	200162	broad.mit.edu	37	1	118583438	118583438	+	Silent	SNP	T	T	A			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr1:118583438T>A	ENST00000336338.5	-	22	3146	c.3081A>T	c.(3079-3081)atA>atT	p.I1027I		NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN	sperm associated antigen 17	1027						cytoplasm (GO:0005737)|microtubule (GO:0005874)|nucleus (GO:0005634)|sperm flagellum (GO:0036126)				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)		Lung(183;0.0858)		TTTGAGTGGGTATATTTCCCA	0.368																																						ENST00000336338.5																			0				NS(1)|biliary_tract(1)|breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(30)|liver(2)|lung(56)|ovary(3)|prostate(5)|skin(5)|upper_aerodigestive_tract(6)|urinary_tract(1)	123						c.(3079-3081)atA>atT		sperm associated antigen 17							124.0	109.0	114.0					1																	118583438		2203	4299	6502	SO:0001819	synonymous_variant	200162					cilium|flagellar axoneme|microtubule		g.chr1:118583438T>A		CCDS899.1	1p12	2014-01-21			ENSG00000155761	ENSG00000155761			26620	protein-coding gene	gene with protein product							Standard	NM_206996		Approved	FLJ34497, PF6, RP4-776P7.2, CT143	uc001ehk.2	Q6Q759	OTTHUMG00000012198	ENST00000336338.5:c.3081A>T	1.37:g.118583438T>A							p.I1027I	NM_206996.2	NP_996879.1	Q6Q759	SPG17_HUMAN		Lung(183;0.0858)	22	3146	-	Esophageal squamous(2;0.0106)	all_cancers(81;0.0204)|all_lung(203;9.46e-05)|Lung NSC(69;0.000675)|all_epithelial(167;0.01)	1027					Q8NAZ1|Q9NT21	Silent	SNP	ENST00000336338.5	37	c.3081A>T	CCDS899.1																																																																																				0.368	SPAG17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033723.1	NM_206996		31	57	0	0	0	1	0	31	57				
HHAT	55733	broad.mit.edu	37	1	210761381	210761381	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr1:210761381G>A	ENST00000367010.1	+	10	1410	c.1183G>A	c.(1183-1185)Gga>Aga	p.G395R	HHAT_ENST00000413764.2_Missense_Mutation_p.G395R|HHAT_ENST00000537898.1_Missense_Mutation_p.G330R|HHAT_ENST00000545781.1_Missense_Mutation_p.G332R|HHAT_ENST00000391905.3_Missense_Mutation_p.G395R|HHAT_ENST00000261458.3_Missense_Mutation_p.G395R|HHAT_ENST00000308852.6_Missense_Mutation_p.G350R|HHAT_ENST00000541565.1_Missense_Mutation_p.G258R|HHAT_ENST00000367009.1_Missense_Mutation_p.G85R|HHAT_ENST00000545154.1_Missense_Mutation_p.G396R	NM_001170580.1	NP_001164051.1	Q5VTY9	HHAT_HUMAN	hedgehog acyltransferase	395					multicellular organismal development (GO:0007275)|protein palmitoylation (GO:0018345)|smoothened signaling pathway (GO:0007224)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	GTP binding (GO:0005525)|palmitoyltransferase activity (GO:0016409)			breast(3)|central_nervous_system(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	27				OV - Ovarian serous cystadenocarcinoma(81;0.0136)|all cancers(67;0.161)|KIRC - Kidney renal clear cell carcinoma(1967;0.215)		CAACTGGCTGGGAGTCACTGT	0.587																																						ENST00000367010.1																			0				breast(3)|central_nervous_system(1)|kidney(1)|large_intestine(6)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	27						c.(1183-1185)Gga>Aga		hedgehog acyltransferase							61.0	53.0	56.0					1																	210761381		2203	4300	6503	SO:0001583	missense	55733				multicellular organismal development	endoplasmic reticulum membrane|integral to membrane	GTP binding	g.chr1:210761381G>A	AK001586	CCDS1495.1, CCDS53471.1, CCDS53472.1, CCDS53473.1	1q32	2008-02-05			ENSG00000054392	ENSG00000054392			18270	protein-coding gene	gene with protein product		605743				11160356	Standard	NM_001170587		Approved	FLJ10724, MART-2, MART2, Skn, ski, rasp, sit, GUP2	uc009xcx.3	Q5VTY9	OTTHUMG00000036447	ENST00000367010.1:c.1183G>A	1.37:g.210761381G>A	ENSP00000355977:p.Gly395Arg					HHAT_ENST00000413764.2_Missense_Mutation_p.G395R|HHAT_ENST00000545154.1_Missense_Mutation_p.G396R|HHAT_ENST00000537898.1_Missense_Mutation_p.G330R|HHAT_ENST00000541565.1_Missense_Mutation_p.G258R|HHAT_ENST00000261458.3_Missense_Mutation_p.G395R|HHAT_ENST00000367009.1_Missense_Mutation_p.G85R|HHAT_ENST00000391905.3_Missense_Mutation_p.G395R|HHAT_ENST00000308852.6_Missense_Mutation_p.G350R|HHAT_ENST00000545781.1_Missense_Mutation_p.G332R	p.G395R	NM_001170580.1	NP_001164051.1	Q5VTY9	HHAT_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0136)|all cancers(67;0.161)|KIRC - Kidney renal clear cell carcinoma(1967;0.215)	10	1410	+			395					B7Z4D5|B7Z5I1|B7Z868|B7ZA75|D3DT91|F5H444|Q17RZ7|Q4G0K3|Q5CZ95|Q5TGI2|Q9NVH9|Q9Y3N8	Missense_Mutation	SNP	ENST00000367010.1	37	c.1183G>A	CCDS1495.1	.	.	.	.	.	.	.	.	.	.	G	29.5	5.014418	0.93404	.	.	ENSG00000054392	ENST00000413764;ENST00000541565;ENST00000545154;ENST00000537898;ENST00000391905;ENST00000545781;ENST00000261458;ENST00000308852;ENST00000367010;ENST00000367009	T;T;T;T;T;T;T;T;T;T	0.73258	-0.73;-0.73;-0.73;-0.73;-0.73;-0.73;-0.73;-0.73;-0.73;-0.73	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	D	0.84032	0.5383	M	0.82056	2.57	0.58432	D	0.999999	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	1.0;1.0;1.0;1.0;1.0	T	0.81479	-0.0914	10	0.25751	T	0.34	-12.3185	16.7378	0.85452	0.0:0.0:1.0:0.0	.	350;396;258;330;395	B7Z2U8;F5H444;B7Z4D5;B7Z5I1;Q5VTY9	.;.;.;.;HHAT_HUMAN	R	395;258;396;330;395;332;395;350;395;85	ENSP00000416845:G395R;ENSP00000444995:G258R;ENSP00000438468:G396R;ENSP00000442625:G330R;ENSP00000375773:G395R;ENSP00000439229:G332R;ENSP00000261458:G395R;ENSP00000308628:G350R;ENSP00000355977:G395R;ENSP00000355976:G85R	ENSP00000261458:G395R	G	+	1	0	HHAT	208828004	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	8.742000	0.91588	2.683000	0.91414	0.655000	0.94253	GGA		0.587	HHAT-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088662.1	NM_018194		10	73	0	0	0	1	0	10	73				
KCNC1	3746	broad.mit.edu	37	11	17793670	17793670	+	Silent	SNP	C	C	T			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr11:17793670C>T	ENST00000379472.3	+	2	1059	c.1029C>T	c.(1027-1029)aaC>aaT	p.N343N	KCNC1_ENST00000265969.6_Silent_p.N343N	NM_004976.4	NP_004967.1	P48547	KCNC1_HUMAN	potassium voltage-gated channel, Shaw-related subfamily, member 1	343					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|voltage-gated potassium channel activity (GO:0005249)			breast(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(7)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	33					Dalfampridine(DB06637)	CCAGCACCAACGAGTTCCTGC	0.617																																						ENST00000379472.3																			0				breast(1)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(9)|lung(7)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	33						c.(1027-1029)aaC>aaT		potassium voltage-gated channel, Shaw-related subfamily, member 1							37.0	35.0	36.0					11																	17793670		2200	4293	6493	SO:0001819	synonymous_variant	3746					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr11:17793670C>T	M96747	CCDS7827.1, CCDS44547.1	11p15	2012-07-05			ENSG00000129159	ENSG00000129159		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6233	protein-coding gene	gene with protein product		176258				8449507, 16382104	Standard	NM_004976		Approved	Kv3.1	uc009yhc.1	P48547	OTTHUMG00000166359	ENST00000379472.3:c.1029C>T	11.37:g.17793670C>T						KCNC1_ENST00000265969.6_Silent_p.N343N	p.N343N	NM_004976.4	NP_004967.1	P48547	KCNC1_HUMAN			2	1059	+			343					K4DI87	Silent	SNP	ENST00000379472.3	37	c.1029C>T	CCDS7827.1																																																																																				0.617	KCNC1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389389.1	NM_004976		22	71	0	0	0	1	0	22	71				
RIMS4	140730	broad.mit.edu	37	20	43379255	43379255	+	IGR	SNP	G	G	T			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr20:43379255G>T	ENST00000372851.3	-	0	5203				KCNK15_ENST00000372861.3_Missense_Mutation_p.A257S	NM_001205317.1|NM_182970.3	NP_001192246.1|NP_892015.1	Q9H426	RIMS4_HUMAN	regulating synaptic membrane exocytosis 4						exocytosis (GO:0006887)|neurotransmitter transport (GO:0006836)|regulation of membrane potential (GO:0042391)	cell junction (GO:0030054)|presynaptic active zone (GO:0048786)|synaptic membrane (GO:0097060)		p.A257S(1)		central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(11)|ovary(5)|urinary_tract(1)	29		Myeloproliferative disorder(115;0.0122)				GCCCGAGCGCGCTGCCCGCAC	0.746																																						ENST00000372861.3																			1	Substitution - Missense(1)	p.A257S(1)	upper_aerodigestive_tract(1)	NS(1)|endometrium(1)|large_intestine(2)|lung(4)|upper_aerodigestive_tract(2)	10						c.(769-771)Gct>Tct		potassium channel, subfamily K, member 15							29.0	28.0	28.0					20																	43379255		2203	4297	6500	SO:0001628	intergenic_variant	60598					integral to membrane	potassium channel activity|voltage-gated ion channel activity	g.chr20:43379255G>T		CCDS13338.1, CCDS56191.1	20q13.12	2005-02-03	2003-06-18	2003-06-20	ENSG00000101098	ENSG00000101098			16183	protein-coding gene	gene with protein product		611601	"""chromosome 20 open reading frame 190"""	C20orf190		12620390	Standard	NM_182970		Approved	dJ781B1.3	uc010ggu.3	Q9H426	OTTHUMG00000032546		20.37:g.43379255G>T							p.A257S	NM_022358.3	NP_071753.2	Q9H427	KCNKF_HUMAN			2	900	+		Myeloproliferative disorder(115;0.0122)	257					A4FU94|E1P613|Q3MI44|Q5JWT7	Missense_Mutation	SNP	ENST00000372851.3	37	c.769G>T	CCDS13338.1	.	.	.	.	.	.	.	.	.	.	G	7.384	0.629419	0.14257	.	.	ENSG00000124249	ENST00000372861	T	0.12879	2.64	4.41	1.32	0.21799	.	3.299780	0.01354	U	0.012015	T	0.08447	0.0210	N	0.14661	0.345	0.27486	N	0.952431	B	0.32188	0.359	B	0.24701	0.055	T	0.22034	-1.0228	10	0.41790	T	0.15	.	4.8141	0.13358	0.1816:0.0:0.6487:0.1697	.	257	Q9H427	KCNKF_HUMAN	S	257	ENSP00000361952:A257S	ENSP00000361952:A257S	A	+	1	0	KCNK15	42812669	0.086000	0.21541	0.037000	0.18230	0.044000	0.14063	0.456000	0.21859	0.130000	0.18549	0.655000	0.94253	GCT		0.746	RIMS4-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000101027.2	NM_182970		23	45	1	0	7.41877e-09	1	7.91829e-09	23	45				
ANKRD7	56311	broad.mit.edu	37	7	117876980	117876980	+	Splice_Site	SNP	C	C	A			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr7:117876980C>A	ENST00000265224.4	+	5	867	c.712C>A	c.(712-714)Cat>Aat	p.H238N	ANKRD7_ENST00000433239.1_Splice_Site_p.H185N|ANKRD7_ENST00000477532.1_3'UTR|ANKRD7_ENST00000417525.1_Splice_Site_p.H185N|ANKRD7_ENST00000357099.4_Splice_Site_p.H258N	NM_019644.3	NP_062618.2	Q92527	ANKR7_HUMAN	ankyrin repeat domain 7	238					male gonad development (GO:0008584)	nucleus (GO:0005634)				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)	29						GGTTTTACTGCGTAAGTGATA	0.388																																						ENST00000357099.4																			0				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(12)|ovary(2)|upper_aerodigestive_tract(1)	29						c.e6+1		ankyrin repeat domain 7							273.0	251.0	258.0					7																	117876980		1891	4113	6004	SO:0001630	splice_region_variant	56311				male gonad development			g.chr7:117876980C>A	D78334	CCDS43638.1	7q31	2013-01-10			ENSG00000106013	ENSG00000106013		"""Ankyrin repeat domain containing"""	18588	protein-coding gene	gene with protein product	"""testis-specific ankyrin motif containing protein"""	610731				8812458	Standard	NM_019644		Approved	TSA806	uc003vji.3	Q92527	OTTHUMG00000156960	ENST00000265224.4:c.712+1C>A	7.37:g.117876980C>A						ANKRD7_ENST00000477532.1_3'UTR|ANKRD7_ENST00000433239.1_Splice_Site_p.H185_splice|ANKRD7_ENST00000265224.4_Splice_Site_p.H238_splice|ANKRD7_ENST00000417525.1_Splice_Site_p.H185_splice	p.H258_splice			Q92527	ANKR7_HUMAN			6	945	+			238					B4DYF5|Q96QN1|Q9UDM3	Splice_Site	SNP	ENST00000265224.4	37	c.772_splice	CCDS43638.1	.	.	.	.	.	.	.	.	.	.	C	0.022	-1.413719	0.01145	.	.	ENSG00000106013	ENST00000357099;ENST00000265224;ENST00000417525;ENST00000433239	T;T;T;T	0.38722	1.15;1.22;1.19;1.12	4.7	0.915	0.19366	.	1.710450	0.04779	N	0.429557	T	0.24624	0.0597	N	0.14661	0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.16928	-1.0386	10	0.25751	T	0.34	11.022	4.3246	0.11034	0.0:0.1857:0.3368:0.4775	.	238	Q92527	ANKR7_HUMAN	N	258;238;185;185	ENSP00000349612:H258N;ENSP00000265224:H238N;ENSP00000395595:H185N;ENSP00000388473:H185N	ENSP00000265224:H238N	H	+	1	0	ANKRD7	117664216	0.269000	0.24143	0.342000	0.25602	0.012000	0.07955	0.267000	0.18552	0.238000	0.21222	-0.611000	0.04053	CAT		0.388	ANKRD7-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000346826.1	NM_001077708	Missense_Mutation	104	211	1	0	1.32035e-51	1	1.89e-51	104	211				
CP	1356	broad.mit.edu	37	3	148925398	148925398	+	Missense_Mutation	SNP	T	T	C	rs150303869	byFrequency	TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr3:148925398T>C	ENST00000264613.6	-	5	1050	c.788A>G	c.(787-789)aAt>aGt	p.N263S		NM_000096.3	NP_000087	P00450	CERU_HUMAN	ceruloplasmin (ferroxidase)	263	F5/8 type A 1.|Plastocyanin-like 2.				cellular iron ion homeostasis (GO:0006879)|copper ion transport (GO:0006825)|transmembrane transport (GO:0055085)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)	chaperone binding (GO:0051087)|copper ion binding (GO:0005507)|ferroxidase activity (GO:0004322)			breast(6)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		Prostate(884;0.00217)|Hepatocellular(537;0.00826)|Myeloproliferative disorder(1037;0.0122)|all_neural(597;0.0189)|Melanoma(1037;0.152)	LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)		Drotrecogin alfa(DB00055)	AGTGTATCCATTCACAGCTGT	0.398													T|||	2	0.000399361	0.0	0.0	5008	,	,		21108	0.0		0.002	False		,,,				2504	0.0					ENST00000264613.6																			0				breast(6)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44						c.(787-789)aAt>aGt		ceruloplasmin (ferroxidase)	Drotrecogin alfa(DB00055)	T	SER/ASN	1,4405	2.1+/-5.4	0,1,2202	64.0	63.0	63.0		788	6.1	1.0	3	dbSNP_134	63	3,8597	3.0+/-9.4	0,3,4297	yes	missense	CP	NM_000096.3	46	0,4,6499	CC,CT,TT		0.0349,0.0227,0.0308	probably-damaging	263/1066	148925398	4,13002	2203	4300	6503	SO:0001583	missense	1356				cellular iron ion homeostasis|copper ion transport|transmembrane transport	extracellular space	chaperone binding|ferroxidase activity	g.chr3:148925398T>C	M13536	CCDS3141.1	3q23-q25	2010-07-01			ENSG00000047457	ENSG00000047457	1.16.3.1		2295	protein-coding gene	gene with protein product		117700					Standard	NM_000096		Approved		uc003ewy.4	P00450	OTTHUMG00000159563	ENST00000264613.6:c.788A>G	3.37:g.148925398T>C	ENSP00000264613:p.Asn263Ser						p.N263S	NM_000096.3	NP_000087.1	P00450	CERU_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)		5	1050	-		Prostate(884;0.00217)|Hepatocellular(537;0.00826)|Myeloproliferative disorder(1037;0.0122)|all_neural(597;0.0189)|Melanoma(1037;0.152)	263			F5/8 type A 1.|Plastocyanin-like 2.		Q14063|Q2PP18|Q9UKS4	Missense_Mutation	SNP	ENST00000264613.6	37	c.788A>G	CCDS3141.1	2	9.157509157509158E-4	0	0.0	0	0.0	0	0.0	2	0.002638522427440633	T	25.7	4.666164	0.88251	2.27E-4	3.49E-4	ENSG00000047457	ENST00000264613;ENST00000494544	D;D	0.88509	-2.39;-2.39	6.05	6.05	0.98169	Cupredoxin (2);Multicopper oxidase, type 1 (1);	0.000000	0.85682	D	0.000000	D	0.96321	0.8800	H	0.95114	3.625	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;0.999	D	0.97404	0.9998	10	0.87932	D	0	-45.2388	16.5993	0.84807	0.0:0.0:0.0:1.0	.	263;263;263	A8K5A4;P00450;Q1L857	.;CERU_HUMAN;.	S	263;46	ENSP00000264613:N263S;ENSP00000420545:N46S	ENSP00000264613:N263S	N	-	2	0	CP	150408088	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.574000	0.82434	2.311000	0.77944	0.528000	0.53228	AAT		0.398	CP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317498.1	NM_000096		31	99	0	0	0	1	0	31	99				
FLNC	2318	broad.mit.edu	37	7	128490528	128490528	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr7:128490528G>T	ENST00000325888.8	+	32	5650	c.5389G>T	c.(5389-5391)Gag>Tag	p.E1797*	RP11-309L24.2_ENST00000469965.1_RNA|FLNC_ENST00000346177.6_Nonsense_Mutation_p.E1764*	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	1797					cell junction assembly (GO:0034329)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|cytoskeletal protein binding (GO:0008092)			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						GCAGAAAGGGGAGCTCACAGG	0.602																																						ENST00000325888.8																			0				biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						c.(5389-5391)Gag>Tag		filamin C, gamma							78.0	85.0	83.0					7																	128490528		1959	4155	6114	SO:0001587	stop_gained	2318				cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding	g.chr7:128490528G>T	AB208865	CCDS43644.1, CCDS47705.1	7q32-q35	2014-09-17	2009-07-23		ENSG00000128591	ENSG00000128591			3756	protein-coding gene	gene with protein product	"""actin binding protein 280"""	102565	"""filamin C, gamma (actin binding protein 280)"""	FLN2		7689010, 8088838	Standard	NM_001458		Approved	ABP-280, ABPL	uc003vnz.4	Q14315	OTTHUMG00000023627	ENST00000325888.8:c.5389G>T	7.37:g.128490528G>T	ENSP00000327145:p.Glu1797*					FLNC_ENST00000346177.6_Nonsense_Mutation_p.E1764*|RP11-309L24.2_ENST00000469965.1_RNA	p.E1797*	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN			32	5650	+			1797					B2ZZ88|O95303|Q07985|Q9NS12|Q9NYE5|Q9UMR8|Q9Y503	Nonsense_Mutation	SNP	ENST00000325888.8	37	c.5389G>T	CCDS43644.1	.	.	.	.	.	.	.	.	.	.	G	47	13.431380	0.99741	.	.	ENSG00000128591	ENST00000325888;ENST00000346177	.	.	.	5.53	5.53	0.82687	.	0.055208	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	19.0476	0.93028	0.0:0.0:1.0:0.0	.	.	.	.	X	1797;1764	.	ENSP00000327145:E1797X	E	+	1	0	FLNC	128277764	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	7.221000	0.78016	2.584000	0.87258	0.655000	0.94253	GAG		0.602	FLNC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059948.3			112	173	1	0	7.80449e-65	1	1.15183e-64	112	173				
ANKRD17	26057	broad.mit.edu	37	4	73957509	73957509	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr4:73957509C>T	ENST00000358602.4	-	29	5952	c.5836G>A	c.(5836-5838)Gtg>Atg	p.V1946M	ANKRD17_ENST00000330838.6_Missense_Mutation_p.V1695M|ANKRD17_ENST00000509867.2_Missense_Mutation_p.V1833M	NM_032217.3	NP_115593.3	O75179	ANR17_HUMAN	ankyrin repeat domain 17	1946					blood vessel maturation (GO:0001955)|negative regulation of smooth muscle cell differentiation (GO:0051151)|viral process (GO:0016032)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)	96	Breast(15;0.000295)		Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)			TGGCGAGGCACCATGTGAGGC	0.498																																						ENST00000358602.4																			0				NS(3)|breast(2)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(39)|ovary(6)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)	96						c.(5836-5838)Gtg>Atg		ankyrin repeat domain 17							117.0	111.0	113.0					4																	73957509		2203	4300	6503	SO:0001583	missense	26057				interspecies interaction between organisms	cytoplasm|nucleus	RNA binding	g.chr4:73957509C>T	AB014597	CCDS34003.1, CCDS34004.1, CCDS68721.1	4q21.1-q21.21	2013-01-10			ENSG00000132466	ENSG00000132466		"""Ankyrin repeat domain containing"""	23575	protein-coding gene	gene with protein product		615929				11165478	Standard	NM_032217		Approved	GTAR, KIAA0697, FLJ22206, NY-BR-16	uc003hgp.3	O75179	OTTHUMG00000160826	ENST00000358602.4:c.5836G>A	4.37:g.73957509C>T	ENSP00000351416:p.Val1946Met					ANKRD17_ENST00000509867.2_Missense_Mutation_p.V1833M|ANKRD17_ENST00000330838.6_Missense_Mutation_p.V1695M	p.V1946M	NM_032217.3	NP_115593.3	O75179	ANR17_HUMAN	Epithelial(6;8.86e-07)|OV - Ovarian serous cystadenocarcinoma(6;6.22e-06)|all cancers(17;1.51e-05)|Lung(101;0.103)|LUSC - Lung squamous cell carcinoma(112;0.154)		29	5952	-	Breast(15;0.000295)		1946					E7EUV3|G5E964|Q6PJ85|Q6PK85|Q6PKA2|Q86XI3|Q8NDR5|Q96I86|Q9H288|Q9H6J9	Missense_Mutation	SNP	ENST00000358602.4	37	c.5836G>A	CCDS34004.1	.	.	.	.	.	.	.	.	.	.	C	9.379	1.072631	0.20147	.	.	ENSG00000132466	ENST00000358602;ENST00000426990;ENST00000330838;ENST00000509867;ENST00000426917	T;T;T	0.67345	-0.26;-0.22;-0.2	5.66	5.66	0.87406	.	0.094927	0.45126	D	0.000393	T	0.47192	0.1432	N	0.08118	0	0.27993	N	0.935573	B;B;B;B	0.15141	0.012;0.012;0.007;0.001	B;B;B;B	0.14023	0.01;0.01;0.004;0.004	T	0.44267	-0.9339	10	0.48119	T	0.1	.	13.0051	0.58699	0.0:0.9262:0.0:0.0738	.	1945;1695;1946;1833	O75179-2;G5E964;O75179;E7EUV3	.;.;ANR17_HUMAN;.	M	1946;1353;1695;1833;330	ENSP00000351416:V1946M;ENSP00000332265:V1695M;ENSP00000427151:V1833M	ENSP00000332265:V1695M	V	-	1	0	ANKRD17	74176373	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	2.147000	0.42226	2.672000	0.90937	0.460000	0.39030	GTG		0.498	ANKRD17-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000362475.1	NM_032217		45	330	0	0	0	1	0	45	330				
PHLPP1	23239	broad.mit.edu	37	18	60563123	60563123	+	Missense_Mutation	SNP	A	A	T			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr18:60563123A>T	ENST00000262719.5	+	6	2557	c.2323A>T	c.(2323-2325)Att>Ttt	p.I775F	PHLPP1_ENST00000400316.4_Missense_Mutation_p.I263F			O60346	PHLP1_HUMAN	PH domain and leucine rich repeat protein phosphatase 1	775					apoptotic process (GO:0006915)|entrainment of circadian clock (GO:0009649)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|phosphoprotein phosphatase activity (GO:0004721)			endometrium(2)|kidney(2)|lung(13)	17						ATTTACTGACATTCCCGAAGT	0.403																																						ENST00000400316.4																			0				endometrium(2)|kidney(2)|lung(13)	17						c.(787-789)Att>Ttt		PH domain and leucine rich repeat protein phosphatase 1							151.0	144.0	146.0					18																	60563123		1845	4097	5942	SO:0001583	missense	23239				apoptosis|nerve growth factor receptor signaling pathway|phosphatidylinositol-mediated signaling	cytosol|membrane|nucleus	metal ion binding|protein serine/threonine phosphatase activity	g.chr18:60563123A>T	AB011178	CCDS45881.1, CCDS45881.2	18q21.32	2013-01-11	2009-05-26	2009-05-26	ENSG00000081913	ENSG00000081913		"""Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"", ""Pleckstrin homology (PH) domain containing"""	20610	protein-coding gene	gene with protein product		609396	"""pleckstrin homology domain containing, family E (with leucine rich repeats) member 1"", ""PH domain and leucine rich repeat protein phosphatase"""	PLEKHE1, PHLPP		10570941, 15808505	Standard	NM_194449		Approved	KIAA0606, SCOP	uc021ule.1	O60346	OTTHUMG00000150629	ENST00000262719.5:c.2323A>T	18.37:g.60563123A>T	ENSP00000262719:p.Ile775Phe					PHLPP1_ENST00000262719.5_Missense_Mutation_p.I775F	p.I263F	NM_194449.3	NP_919431.2	O60346	PHLP1_HUMAN			6	2568	+			775					A1A4F5|Q641Q7|Q6P4C4|Q6PJI6|Q86TN6|Q96FK2|Q9NUY1	Missense_Mutation	SNP	ENST00000262719.5	37	c.787A>T	CCDS45881.2	.	.	.	.	.	.	.	.	.	.	A	19.89	3.910910	0.72983	.	.	ENSG00000081913	ENST00000400316;ENST00000262719	T;T	0.29655	1.56;1.56	5.07	5.07	0.68467	.	.	.	.	.	T	0.35335	0.0928	M	0.75884	2.315	0.58432	D	0.999997	P	0.46064	0.872	B	0.39660	0.306	T	0.29579	-1.0007	9	0.35671	T	0.21	-14.0374	15.016	0.71584	1.0:0.0:0.0:0.0	.	775	O60346	PHLP1_HUMAN	F	263;775	ENSP00000383170:I263F;ENSP00000262719:I775F	ENSP00000262719:I775F	I	+	1	0	PHLPP1	58714103	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	3.318000	0.51975	2.146000	0.66826	0.533000	0.62120	ATT		0.403	PHLPP1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319249.2	NM_194449		42	81	0	0	0	1	0	42	81				
ATP10A	57194	broad.mit.edu	37	15	25953178	25953178	+	Silent	SNP	G	G	A			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr15:25953178G>A	ENST00000356865.6	-	12	2631	c.2520C>T	c.(2518-2520)agC>agT	p.S840S		NM_024490.3	NP_077816.1	O60312	AT10A_HUMAN	ATPase, class V, type 10A	840					ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|regulation of cell shape (GO:0008360)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)		GGAGCTCCTCGCTGTTTTCCA	0.502																																						ENST00000356865.6																			0				NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103						c.(2518-2520)agC>agT		ATPase, class V, type 10A							79.0	71.0	74.0					15																	25953178		2203	4300	6503	SO:0001819	synonymous_variant	57194				ATP biosynthetic process|regulation of cell shape	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr15:25953178G>A	AB011138	CCDS32178.1	15q12	2010-04-20	2007-09-19		ENSG00000206190	ENSG00000206190		"""ATPases / P-type"""	13542	protein-coding gene	gene with protein product		605855	"""ATPase, Class V, type 10C"", ""ATPase, Class V, type 10A"""	ATP10C		11015572, 9628581	Standard	NM_024490		Approved	ATPVA, ATPVC, KIAA0566	uc010ayu.3	O60312		ENST00000356865.6:c.2520C>T	15.37:g.25953178G>A							p.S840S	NM_024490.3	NP_077816.1	O60312	AT10A_HUMAN		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)	12	2631	-		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)	840					Q4G0S9|Q969I4	Silent	SNP	ENST00000356865.6	37	c.2520C>T	CCDS32178.1																																																																																				0.502	ATP10A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414830.1	NM_024490		24	94	0	0	0	1	0	24	94				
ARIH2	10425	broad.mit.edu	37	3	49011181	49011181	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr3:49011181C>T	ENST00000356401.4	+	9	1159	c.820C>T	c.(820-822)Cgg>Tgg	p.R274W	ARIH2_ENST00000490095.1_3'UTR|ARIH2_ENST00000449376.1_Missense_Mutation_p.R274W	NM_006321.2	NP_006312.1	O95376	ARI2_HUMAN	ariadne RBR E3 ubiquitin protein ligase 2	274					developmental cell growth (GO:0048588)|hematopoietic stem cell proliferation (GO:0071425)|multicellular organismal development (GO:0007275)|protein K48-linked ubiquitination (GO:0070936)|protein K63-linked ubiquitination (GO:0070534)|protein polyubiquitination (GO:0000209)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|nucleic acid binding (GO:0003676)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1)	13				BRCA - Breast invasive adenocarcinoma(193;9.42e-05)|Kidney(197;0.00258)|KIRC - Kidney renal clear cell carcinoma(197;0.00269)		TGCCACAATCCGGAAATGGCT	0.423																																						ENST00000356401.4																			0				cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|ovary(1)|skin(1)	13						c.(820-822)Cgg>Tgg		ariadne RBR E3 ubiquitin protein ligase 2							118.0	99.0	106.0					3																	49011181		2203	4300	6503	SO:0001583	missense	10425				developmental cell growth|hemopoietic stem cell proliferation|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	nucleic acid binding|protein binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr3:49011181C>T	AF099149	CCDS2780.1	3p21	2013-10-03	2013-10-03		ENSG00000177479	ENSG00000177479			690	protein-coding gene	gene with protein product	"""all-trans retinoic acid inducible RING finger"""	605615	"""ariadne (Drosophila) homolog 2"", ""ariadne homolog 2 (Drosophila)"""			10422847, 24058416	Standard	XM_005264798		Approved	TRIAD1	uc003cvb.3	O95376	OTTHUMG00000133547	ENST00000356401.4:c.820C>T	3.37:g.49011181C>T	ENSP00000348769:p.Arg274Trp					ARIH2_ENST00000449376.1_Missense_Mutation_p.R274W|ARIH2_ENST00000490095.1_3'UTR	p.R274W	NM_006321.2	NP_006312.1	O95376	ARI2_HUMAN		BRCA - Breast invasive adenocarcinoma(193;9.42e-05)|Kidney(197;0.00258)|KIRC - Kidney renal clear cell carcinoma(197;0.00269)	9	1159	+			274					Q9HBZ6|Q9UEM9	Missense_Mutation	SNP	ENST00000356401.4	37	c.820C>T	CCDS2780.1	.	.	.	.	.	.	.	.	.	.	C	31	5.076935	0.94000	.	.	ENSG00000177479	ENST00000356401;ENST00000449376;ENST00000444790;ENST00000395481	T;T	0.63913	-0.07;-0.07	5.7	5.7	0.88788	.	0.000000	0.85682	D	0.000000	D	0.82939	0.5146	M	0.87180	2.865	0.80722	D	1	D;D;D	0.89917	0.999;1.0;0.999	P;D;D	0.81914	0.877;0.995;0.956	D	0.85239	0.1037	10	0.87932	D	0	.	19.8372	0.96661	0.0:1.0:0.0:0.0	.	281;274;274	B3KMG5;Q53ET9;O95376	.;.;ARI2_HUMAN	W	274;274;273;98	ENSP00000348769:R274W;ENSP00000403222:R274W	ENSP00000348769:R274W	R	+	1	2	ARIH2	48986185	1.000000	0.71417	1.000000	0.80357	0.873000	0.50193	4.508000	0.60441	2.695000	0.91970	0.462000	0.41574	CGG		0.423	ARIH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257525.1	NM_006321		32	84	0	0	0	1	0	32	84				
FAT3	120114	broad.mit.edu	37	11	92531954	92531954	+	Silent	SNP	C	C	A			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr11:92531954C>A	ENST00000298047.6	+	9	5792	c.5775C>A	c.(5773-5775)ggC>ggA	p.G1925G	FAT3_ENST00000409404.2_Silent_p.G1925G|FAT3_ENST00000525166.1_Silent_p.G1775G			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	1925	Cadherin 17. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)				TAATGGAAGGCAGTTTGGATC	0.423										TCGA Ovarian(4;0.039)																												ENST00000298047.6																			0				NS(1)|breast(2)|endometrium(10)|kidney(4)|large_intestine(11)|liver(2)|lung(37)|ovary(5)|pancreas(1)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	85						c.(5773-5775)ggC>ggA		FAT atypical cadherin 3							75.0	68.0	70.0					11																	92531954		1920	4134	6054	SO:0001819	synonymous_variant	120114				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr11:92531954C>A	AB076400		11q14.3	2013-05-31	2013-05-31		ENSG00000165323	ENSG00000165323		"""Cadherins / Cadherin-related"""	23112	protein-coding gene	gene with protein product	"""cadherin-related family member 10"""	612483	"""FAT tumor suppressor homolog 3 (Drosophila)"""			11811999	Standard	NM_001008781		Approved	KIAA1989, CDHF15, CDHR10	uc001pdj.4	Q8TDW7	OTTHUMG00000154468	ENST00000298047.6:c.5775C>A	11.37:g.92531954C>A		TCGA Ovarian(4;0.039)				FAT3_ENST00000525166.1_Silent_p.G1775G|FAT3_ENST00000409404.2_Silent_p.G1925G	p.G1925G			Q8TDW7	FAT3_HUMAN			9	5792	+		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)	1925			Cadherin 17.		B5MDB0|Q96AU6	Silent	SNP	ENST00000298047.6	37	c.5775C>A																																																																																					0.423	FAT3-201	KNOWN	basic	protein_coding	protein_coding		NM_001008781		5	57	1	0	0.014758	1	0.0147926	5	57				
FASTKD2	22868	broad.mit.edu	37	2	207631494	207631494	+	Missense_Mutation	SNP	G	G	T			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr2:207631494G>T	ENST00000236980.6	+	2	425	c.77G>T	c.(76-78)tGg>tTg	p.W26L	FASTKD2_ENST00000403094.3_Missense_Mutation_p.W26L|MDH1B_ENST00000374412.3_5'Flank|FASTKD2_ENST00000402774.3_Missense_Mutation_p.W26L|MDH1B_ENST00000454776.2_5'Flank|MDH1B_ENST00000449792.1_5'Flank|MDH1B_ENST00000392214.2_5'Flank	NM_014929.3	NP_055744.2	Q9NYY8	FAKD2_HUMAN	FAST kinase domains 2	26					cellular respiration (GO:0045333)	mitochondrion (GO:0005739)	poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)			breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(2)	21				LUSC - Lung squamous cell carcinoma(261;0.0718)|Epithelial(149;0.119)|Lung(261;0.138)		TCCTTTTTCTGGAACCTTAGA	0.383																																						ENST00000236980.6																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(2)	21						c.(76-78)tGg>tTg		FAST kinase domains 2							65.0	69.0	67.0					2																	207631494		2203	4300	6503	SO:0001583	missense	22868				apoptosis|cellular respiration	mitochondrion	ATP binding|protein kinase activity	g.chr2:207631494G>T	BC001544	CCDS2371.1	2q33.3	2008-02-05	2006-07-07	2006-07-07	ENSG00000118246	ENSG00000118246			29160	protein-coding gene	gene with protein product		612322	"""KIAA0971"""	KIAA0971			Standard	NM_014929		Approved		uc002vbx.3	Q9NYY8	OTTHUMG00000132917	ENST00000236980.6:c.77G>T	2.37:g.207631494G>T	ENSP00000236980:p.Trp26Leu					FASTKD2_ENST00000402774.3_Missense_Mutation_p.W26L|FASTKD2_ENST00000403094.3_Missense_Mutation_p.W26L	p.W26L	NM_014929.3	NP_055744.2	Q9NYY8	FAKD2_HUMAN		LUSC - Lung squamous cell carcinoma(261;0.0718)|Epithelial(149;0.119)|Lung(261;0.138)	2	425	+			26					Q9NVX6|Q9Y2H7	Missense_Mutation	SNP	ENST00000236980.6	37	c.77G>T	CCDS2371.1	.	.	.	.	.	.	.	.	.	.	G	9.632	1.136717	0.21123	.	.	ENSG00000118246	ENST00000236980;ENST00000418289;ENST00000402774;ENST00000403094	T;T;T;T	0.55760	2.25;0.5;2.25;2.25	4.98	3.15	0.36227	.	0.294242	0.25004	N	0.033897	T	0.52256	0.1723	L	0.48642	1.525	0.22479	N	0.999063	P;P	0.42518	0.782;0.675	P;B	0.48677	0.586;0.261	T	0.46414	-0.9193	10	0.72032	D	0.01	-0.0048	9.1888	0.37187	0.1767:0.0:0.8233:0.0	.	26;26	Q9NYY8-2;Q9NYY8	.;FAKD2_HUMAN	L	26	ENSP00000236980:W26L;ENSP00000409927:W26L;ENSP00000385990:W26L;ENSP00000384929:W26L	ENSP00000236980:W26L	W	+	2	0	FASTKD2	207339739	0.982000	0.34865	0.100000	0.21137	0.142000	0.21351	1.921000	0.40035	1.338000	0.45544	0.491000	0.48974	TGG		0.383	FASTKD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256428.2	NM_014929		46	79	1	0	6.21074e-16	1	7.38388e-16	46	79				
ATP10A	57194	broad.mit.edu	37	15	25924782	25924782	+	Silent	SNP	G	G	T			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr15:25924782G>T	ENST00000356865.6	-	21	4317	c.4206C>A	c.(4204-4206)gtC>gtA	p.V1402V		NM_024490.3	NP_077816.1	O60312	AT10A_HUMAN	ATPase, class V, type 10A	1402					ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|regulation of cell shape (GO:0008360)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)		GACTCCTCAGGACAGCCTCCC	0.657																																						ENST00000356865.6																			0				NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103						c.(4204-4206)gtC>gtA		ATPase, class V, type 10A							38.0	37.0	37.0					15																	25924782		2203	4300	6503	SO:0001819	synonymous_variant	57194				ATP biosynthetic process|regulation of cell shape	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr15:25924782G>T	AB011138	CCDS32178.1	15q12	2010-04-20	2007-09-19		ENSG00000206190	ENSG00000206190		"""ATPases / P-type"""	13542	protein-coding gene	gene with protein product		605855	"""ATPase, Class V, type 10C"", ""ATPase, Class V, type 10A"""	ATP10C		11015572, 9628581	Standard	NM_024490		Approved	ATPVA, ATPVC, KIAA0566	uc010ayu.3	O60312		ENST00000356865.6:c.4206C>A	15.37:g.25924782G>T							p.V1402V	NM_024490.3	NP_077816.1	O60312	AT10A_HUMAN		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)	21	4317	-		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)	1402					Q4G0S9|Q969I4	Silent	SNP	ENST00000356865.6	37	c.4206C>A	CCDS32178.1																																																																																				0.657	ATP10A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414830.1	NM_024490		32	101	1	0	4.4194e-11	1	4.83761e-11	32	101				
CDH24	64403	broad.mit.edu	37	14	23518342	23518342	+	Silent	SNP	C	C	T			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr14:23518342C>T	ENST00000267383.5	-	11	1946	c.1854G>A	c.(1852-1854)caG>caA	p.Q618Q	CDH24_ENST00000485922.1_5'UTR|CDH24_ENST00000554034.1_Silent_p.Q580Q|CDH24_ENST00000487137.2_Silent_p.Q580Q|CDH24_ENST00000397359.3_Silent_p.Q618Q			Q86UP0	CAD24_HUMAN	cadherin 24, type 2	618	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alpha-catenin binding (GO:0045294)|beta-catenin binding (GO:0008013)|calcium ion binding (GO:0005509)|delta-catenin binding (GO:0070097)			breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	26	all_cancers(95;3.3e-05)			GBM - Glioblastoma multiforme(265;0.00654)		AGCCGTCAGGCTGGCAGCGGC	0.657																																						ENST00000397359.3																			0				breast(1)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(6)|lung(5)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	26						c.(1852-1854)caG>caA		cadherin 24, type 2							21.0	19.0	20.0					14																	23518342		2203	4298	6501	SO:0001819	synonymous_variant	64403				adherens junction organization|cell junction assembly|cell-cell adhesion|homophilic cell adhesion	cell-cell junction|integral to membrane	alpha-catenin binding|beta-catenin binding|calcium ion binding|delta-catenin binding	g.chr14:23518342C>T	AL137477	CCDS9585.1, CCDS9586.1	14q11.2	2010-08-20	2009-11-20		ENSG00000139880	ENSG00000139880		"""Cadherins / Major cadherins"""	14265	protein-coding gene	gene with protein product			"""cadherin-like 24"""			12734196	Standard	NM_022478		Approved	CDH11L	uc001wil.3	Q86UP0	OTTHUMG00000028715	ENST00000267383.5:c.1854G>A	14.37:g.23518342C>T						CDH24_ENST00000485922.1_5'UTR|CDH24_ENST00000554034.1_Silent_p.Q580Q|CDH24_ENST00000487137.2_Silent_p.Q580Q|CDH24_ENST00000267383.5_Silent_p.Q618Q	p.Q618Q	NM_022478.3	NP_071923.2	Q86UP0	CAD24_HUMAN		GBM - Glioblastoma multiforme(265;0.00654)	12	2113	-	all_cancers(95;3.3e-05)		618			Cadherin 5.		D3DS44|Q86UP1|Q9NT84	Silent	SNP	ENST00000267383.5	37	c.1854G>A	CCDS9585.1																																																																																				0.657	CDH24-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000257241.2	NM_022478		17	23	0	0	0	1	0	17	23				
MYOCD	93649	broad.mit.edu	37	17	12656076	12656076	+	Missense_Mutation	SNP	G	G	T	rs149104165	byFrequency	TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr17:12656076G>T	ENST00000343344.4	+	10	1471	c.1471G>T	c.(1471-1473)Gtg>Ttg	p.V491L	AC005358.1_ENST00000609971.1_Missense_Mutation_p.V395L|MYOCD_ENST00000425538.1_Missense_Mutation_p.V491L|MYOCD_ENST00000395988.1_3'UTR			Q8IZQ8	MYCD_HUMAN	myocardin	491	Ser-rich.				cardiac muscle cell differentiation (GO:0055007)|cardiac ventricle development (GO:0003231)|cardiocyte differentiation (GO:0035051)|cell growth involved in cardiac muscle cell development (GO:0061049)|cellular component maintenance (GO:0043954)|cellular response to growth factor stimulus (GO:0071363)|cellular response to hypoxia (GO:0071456)|digestive tract development (GO:0048565)|ductus arteriosus closure (GO:0097070)|hepatic stellate cell activation (GO:0035733)|lung alveolus development (GO:0048286)|negative regulation of beta-amyloid clearance (GO:1900222)|negative regulation of cardiac muscle cell apoptotic process (GO:0010667)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of skeletal muscle cell differentiation (GO:2001015)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cardiac muscle cell differentiation (GO:2000727)|positive regulation of cardiac vascular smooth muscle cell differentiation (GO:2000724)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA binding (GO:0043388)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of smooth muscle cell differentiation (GO:0051152)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003257)|positive regulation of transcription from RNA polymerase II promoter involved in smooth muscle cell differentiation (GO:2000721)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of cell growth by extracellular stimulus (GO:0001560)|regulation of histone acetylation (GO:0035065)|regulation of myoblast differentiation (GO:0045661)|regulation of smooth muscle cell differentiation (GO:0051150)|response to hypoxia (GO:0001666)|smooth muscle cell differentiation (GO:0051145)|urinary bladder development (GO:0060157)|uterus development (GO:0060065)|vasculogenesis (GO:0001570)|ventricular cardiac muscle cell differentiation (GO:0055012)	nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|protein domain specific binding (GO:0019904)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II transcription factor binding transcription factor activity (GO:0001076)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)			breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	70				UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)		CCCAGTCCACGTGTGCACGGA	0.612																																						ENST00000425538.1																			0				breast(2)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(11)|liver(2)|lung(33)|ovary(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	70						c.(1471-1473)Gtg>Ttg		myocardin							52.0	51.0	51.0					17																	12656076		2203	4300	6503	SO:0001583	missense	93649				cardiac muscle cell differentiation|negative regulation of cell proliferation|negative regulation of cyclin-dependent protein kinase activity|positive regulation of smooth muscle cell differentiation|positive regulation of smooth muscle contraction|positive regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation|regulation of histone acetylation|smooth muscle cell differentiation	nucleus	nucleic acid binding|RNA polymerase II transcription factor binding transcription factor activity|transcription factor binding	g.chr17:12656076G>T	AF532596	CCDS11163.1, CCDS54091.1	17p11.2	2004-03-01			ENSG00000141052	ENSG00000141052			16067	protein-coding gene	gene with protein product		606127				11439182, 12397177	Standard	XM_005256863		Approved	MYCD	uc002gno.2	Q8IZQ8	OTTHUMG00000058767	ENST00000343344.4:c.1471G>T	17.37:g.12656076G>T	ENSP00000341835:p.Val491Leu					MYOCD_ENST00000395988.1_Missense_Mutation_p.V395L|MYOCD_ENST00000343344.4_Missense_Mutation_p.V491L	p.V491L	NM_001146312.1|NM_153604.2	NP_001139784.1|NP_705832.1	Q8IZQ8	MYCD_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (92;0.0969)	10	1671	+			491			Ser-rich.		Q5UBU5|Q8N7Q1	Missense_Mutation	SNP	ENST00000343344.4	37	c.1471G>T	CCDS11163.1	.	.	.	.	.	.	.	.	.	.	G	3.176	-0.168907	0.06461	.	.	ENSG00000141052	ENST00000395982;ENST00000425538;ENST00000343344;ENST00000395988;ENST00000443061	T;T	0.45276	0.92;0.9	5.66	1.24	0.21308	.	0.743998	0.13264	N	0.401085	T	0.24547	0.0595	L	0.28192	0.835	0.09310	N	1	B;B;B;B	0.06786	0.0;0.001;0.001;0.001	B;B;B;B	0.06405	0.0;0.002;0.002;0.001	T	0.19679	-1.0298	10	0.17369	T	0.5	-3.1689	6.5698	0.22533	0.2209:0.2328:0.5464:0.0	.	210;395;491;491	E9PEP9;Q8IZQ8-2;Q8IZQ8-3;Q8IZQ8	.;.;.;MYCD_HUMAN	L	210;491;491;395;196	ENSP00000341835:V491L;ENSP00000400148:V196L	ENSP00000341835:V491L	V	+	1	0	MYOCD	12596801	0.000000	0.05858	0.008000	0.14137	0.037000	0.13140	0.417000	0.21214	0.748000	0.32831	0.591000	0.81541	GTG		0.612	MYOCD-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000129950.1	NM_153604		103	35	1	0	1.50986e-39	1	2.07788e-39	103	35				
RGS17	26575	broad.mit.edu	37	6	153347667	153347667	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr6:153347667C>T	ENST00000367225.2	-	2	155	c.131G>A	c.(130-132)aGg>aAg	p.R44K	RGS17_ENST00000206262.1_Missense_Mutation_p.R44K			Q9UGC6	RGS17_HUMAN	regulator of G-protein signaling 17	44					positive regulation of GTPase activity (GO:0043547)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)			cervix(2)|endometrium(2)|large_intestine(4)|lung(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	14		Ovarian(120;0.126)		OV - Ovarian serous cystadenocarcinoma(155;1.09e-09)|BRCA - Breast invasive adenocarcinoma(81;0.0429)		TTCTTCATTCCTCACAGTGAG	0.403																																					Esophageal Squamous(78;500 1236 6775 24364 49058)	ENST00000367225.2																			0				cervix(2)|endometrium(2)|large_intestine(4)|lung(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	14						c.(130-132)aGg>aAg		regulator of G-protein signaling 17							243.0	189.0	207.0					6																	153347667		2203	4300	6503	SO:0001583	missense	26575				negative regulation of signal transduction	cytoplasm|nucleus|plasma membrane	GTPase activator activity|signal transducer activity	g.chr6:153347667C>T	AF202257	CCDS5244.1	6q25-q26	2009-05-29	2007-08-14		ENSG00000091844	ENSG00000091844		"""Regulators of G-protein signaling"""	14088	protein-coding gene	gene with protein product		607191	"""regulator of G-protein signalling 17"""			10419452	Standard	NM_012419		Approved	RGSZ2, RGS-17	uc003qpm.3	Q9UGC6	OTTHUMG00000015858	ENST00000367225.2:c.131G>A	6.37:g.153347667C>T	ENSP00000356194:p.Arg44Lys					RGS17_ENST00000206262.1_Missense_Mutation_p.R44K	p.R44K			Q9UGC6	RGS17_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;1.09e-09)|BRCA - Breast invasive adenocarcinoma(81;0.0429)	2	155	-		Ovarian(120;0.126)	44					Q5TF49|Q8TD61|Q9UJS8	Missense_Mutation	SNP	ENST00000367225.2	37	c.131G>A	CCDS5244.1	.	.	.	.	.	.	.	.	.	.	C	24.1	4.489867	0.84962	.	.	ENSG00000091844	ENST00000367225;ENST00000206262	T;T	0.47869	0.83;0.83	5.16	4.28	0.50868	.	9.949670	0.00166	N	0.000000	T	0.53270	0.1786	M	0.67953	2.075	0.43292	D	0.995271	P	0.51537	0.946	P	0.55161	0.77	T	0.46707	-0.9172	10	0.29301	T	0.29	-13.3324	15.2907	0.73865	0.1412:0.8588:0.0:0.0	.	44	Q9UGC6	RGS17_HUMAN	K	44	ENSP00000356194:R44K;ENSP00000206262:R44K	ENSP00000206262:R44K	R	-	2	0	RGS17	153389360	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	6.684000	0.74538	1.290000	0.44636	0.650000	0.86243	AGG		0.403	RGS17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042773.2			62	117	0	0	0	1	0	62	117				
TPTE	7179	broad.mit.edu	37	21	10933853	10933853	+	Splice_Site	SNP	T	T	A			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr21:10933853T>A	ENST00000361285.4	-	17	1355	c.1026A>T	c.(1024-1026)acA>acT	p.T342T	TPTE_ENST00000342420.5_Splice_Site_p.T304T|TPTE_ENST00000298232.7_Splice_Site_p.T324T|TPTE_ENST00000415664.2_5'UTR	NM_199261.2	NP_954870	P56180	TPTE_HUMAN	transmembrane phosphatase with tensin homology	342	Phosphatase tensin-type. {ECO:0000255|PROSITE-ProRule:PRU00590}.				peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	ion channel activity (GO:0005216)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130			Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		TGTTATTACCTGTGCCTCCTT	0.323																																						ENST00000298232.7																			0				NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(19)|lung(76)|ovary(2)|prostate(2)|skin(8)|urinary_tract(1)	130						c.e16+1		transmembrane phosphatase with tensin homology							234.0	228.0	230.0					21																	10933853		2203	4300	6503	SO:0001630	splice_region_variant	7179				signal transduction	integral to membrane	ion channel activity|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr21:10933853T>A	AF007118	CCDS74771.1, CCDS74772.1, CCDS74773.1	21p11	2011-06-09			ENSG00000166157	ENSG00000274391		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	12023	protein-coding gene	gene with protein product	"""PTEN-related tyrosine phosphatase"", ""cancer/testis antigen 44"""	604336				10830953, 14659893	Standard	NM_001290224		Approved	PTEN2, CT44	uc002yip.1	P56180	OTTHUMG00000074127	ENST00000361285.4:c.1027+1A>T	21.37:g.10933853T>A						TPTE_ENST00000342420.5_Splice_Site_p.T304_splice|TPTE_ENST00000361285.4_Splice_Site_p.T342_splice|TPTE_ENST00000415664.2_5'UTR	p.T324_splice	NM_199259.2	NP_954868.1	P56180	TPTE_HUMAN	Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)	16	1339	-			342			Phosphatase tensin-type.		B2RAP7|C9J6D6|C9JKK8|Q6XPS4|Q6XPS5|Q71JA8|Q8NCS8	Splice_Site	SNP	ENST00000361285.4	37	c.973_splice	CCDS13560.2																																																																																				0.323	TPTE-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000157413.1		Silent	64	292	0	0	0	1	0	64	292				
EXOSC2	23404	broad.mit.edu	37	9	133573566	133573566	+	Nonsense_Mutation	SNP	G	G	A			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr9:133573566G>A	ENST00000372358.5	+	4	359	c.288G>A	c.(286-288)tgG>tgA	p.W96*	EXOSC2_ENST00000372352.3_Nonsense_Mutation_p.W96*|EXOSC2_ENST00000546165.1_Nonsense_Mutation_p.W96*|EXOSC2_ENST00000372351.3_Intron			Q13868	EXOS2_HUMAN	exosome component 2	96	S1 motif.				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|positive regulation of cell growth (GO:0030307)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|exosome (RNase complex) (GO:0000178)|nucleus (GO:0005634)	3'-5'-exoribonuclease activity (GO:0000175)|7S RNA binding (GO:0008312)			breast(1)|endometrium(1)|large_intestine(3)|ovary(1)	6		Acute lymphoblastic leukemia(5;0.0508)|all_hematologic(13;0.0588)		OV - Ovarian serous cystadenocarcinoma(145;0.000324)		AGAAGAGGTGGAAGGTGGAGA	0.517																																					Pancreas(134;1683 1824 10118 27928 31640)	ENST00000372358.5																			0				breast(1)|endometrium(1)|large_intestine(3)|ovary(1)	6						c.(286-288)tgG>tgA		exosome component 2							134.0	113.0	120.0					9																	133573566		2203	4300	6503	SO:0001587	stop_gained	23404				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|positive regulation of cell growth|rRNA processing	cytosol|exosome (RNase complex)|nucleolus	3'-5'-exoribonuclease activity|7S RNA binding|protein binding	g.chr9:133573566G>A	AK001916	CCDS6935.1, CCDS65160.1, CCDS65161.1	9q34	2008-02-05			ENSG00000130713	ENSG00000130713			17097	protein-coding gene	gene with protein product	"""homolog of yeast RRP4 (ribosomal RNA processing 4), 3' 5' exoribonuclease (RRP4)"""	602238				8600032, 1538749	Standard	XM_005272176		Approved	hRrp4p, Rrp4p, RRP4, p7	uc004bzu.2	Q13868	OTTHUMG00000020811	ENST00000372358.5:c.288G>A	9.37:g.133573566G>A	ENSP00000361433:p.Trp96*					EXOSC2_ENST00000372352.3_Nonsense_Mutation_p.W96*|EXOSC2_ENST00000372351.3_Intron|EXOSC2_ENST00000546165.1_Nonsense_Mutation_p.W96*	p.W96*			Q13868	EXOS2_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;0.000324)	4	359	+		Acute lymphoblastic leukemia(5;0.0508)|all_hematologic(13;0.0588)	96			S1 motif.		A3KFL3|B4DKK6|Q9NUY4	Nonsense_Mutation	SNP	ENST00000372358.5	37	c.288G>A	CCDS6935.1	.	.	.	.	.	.	.	.	.	.	G	36	5.740030	0.96873	.	.	ENSG00000130713	ENST00000372358;ENST00000546165;ENST00000372352;ENST00000372350;ENST00000495699	.	.	.	5.56	5.56	0.83823	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-35.7708	18.5028	0.90888	0.0:0.0:1.0:0.0	.	.	.	.	X	96	.	ENSP00000361425:W96X	W	+	3	0	EXOSC2	132563387	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.772000	0.98984	2.610000	0.88304	0.491000	0.48974	TGG		0.517	EXOSC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054673.1	NM_014285		43	109	0	0	0	1	0	43	109				
TNFSF13B	10673	broad.mit.edu	37	13	108955624	108955624	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr13:108955624C>T	ENST00000375887.4	+	4	683	c.505C>T	c.(505-507)Ctt>Ttt	p.L169F	RNA5SP39_ENST00000411245.1_RNA|TNFSF13B_ENST00000542136.1_Intron|TNFSF13B_ENST00000430559.1_Missense_Mutation_p.L150F|TNFSF13B_ENST00000479435.1_3'UTR	NM_006573.4	NP_006564.1	Q9Y275	TN13B_HUMAN	tumor necrosis factor (ligand) superfamily, member 13b	169					B cell costimulation (GO:0031296)|B cell homeostasis (GO:0001782)|cell proliferation (GO:0008283)|immune response (GO:0006955)|immunoglobulin secretion (GO:0048305)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cell proliferation (GO:0008284)|positive regulation of germinal center formation (GO:0002636)|positive regulation of T cell proliferation (GO:0042102)|signal transduction (GO:0007165)|T cell costimulation (GO:0031295)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)			large_intestine(1)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	10	all_lung(23;0.000396)|all_neural(89;0.00256)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00902)|Lung SC(71;0.104)		all cancers(43;0.184)|BRCA - Breast invasive adenocarcinoma(86;0.19)		Belimumab(DB08879)	TGTTCCATGGCTTCTCAGCTT	0.348																																						ENST00000375887.4																			0				large_intestine(1)|lung(5)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	10						c.(505-507)Ctt>Ttt		tumor necrosis factor (ligand) superfamily, member 13b							55.0	58.0	57.0					13																	108955624		2200	4299	6499	SO:0001583	missense	10673				cell proliferation|immune response|signal transduction	extracellular space|integral to membrane|plasma membrane|soluble fraction	cytokine activity|tumor necrosis factor receptor binding	g.chr13:108955624C>T	AF136293	CCDS9509.1, CCDS45067.1	13q32-q34	2008-05-14			ENSG00000102524	ENSG00000102524		"""Tumor necrosis factor (ligand) superfamily"", ""CD molecules"""	11929	protein-coding gene	gene with protein product		603969		TNFSF20		10331498, 10359578	Standard	NM_006573		Approved	BAFF, THANK, BLYS, TALL-1, TALL1, CD257	uc001vqr.3	Q9Y275	OTTHUMG00000017329	ENST00000375887.4:c.505C>T	13.37:g.108955624C>T	ENSP00000365048:p.Leu169Phe					TNFSF13B_ENST00000430559.1_Missense_Mutation_p.L150F|TNFSF13B_ENST00000542136.1_Intron|TNFSF13B_ENST00000479435.1_3'UTR	p.L169F	NM_006573.4	NP_006564.1	Q9Y275	TN13B_HUMAN	all cancers(43;0.184)|BRCA - Breast invasive adenocarcinoma(86;0.19)		4	683	+	all_lung(23;0.000396)|all_neural(89;0.00256)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00902)|Lung SC(71;0.104)		169					E0ADT7|Q6FHD6|Q7Z5J2	Missense_Mutation	SNP	ENST00000375887.4	37	c.505C>T	CCDS9509.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.953798	0.73902	.	.	ENSG00000102524	ENST00000430559;ENST00000375887	T;T	0.31769	1.48;1.48	5.95	5.95	0.96441	Tumour necrosis factor (2);Tumour necrosis factor-like (2);	0.067518	0.64402	D	0.000005	T	0.40595	0.1123	L	0.36672	1.1	0.80722	D	1	P;D	0.62365	0.949;0.991	P;P	0.59487	0.541;0.858	T	0.08086	-1.0739	10	0.51188	T	0.08	-15.0438	12.6642	0.56833	0.0:0.9255:0.0:0.0745	.	150;169	Q9Y275-2;Q9Y275	.;TN13B_HUMAN	F	150;169	ENSP00000389540:L150F;ENSP00000365048:L169F	ENSP00000365048:L169F	L	+	1	0	TNFSF13B	107753625	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	4.435000	0.59941	2.827000	0.97445	0.650000	0.86243	CTT		0.348	TNFSF13B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000045739.3			21	54	0	0	0	1	0	21	54				
IVL	3713	broad.mit.edu	37	1	152883950	152883950	+	Silent	SNP	G	G	T	rs372109143		TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr1:152883950G>T	ENST00000368764.3	+	2	1741	c.1677G>T	c.(1675-1677)ctG>ctT	p.L559L	IVL_ENST00000392667.2_Silent_p.L413L			P07476	INVO_HUMAN	involucrin	559					isopeptide cross-linking via N6-(L-isoglutamyl)-L-lysine (GO:0018153)|keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)|response to UV-B (GO:0010224)	cornified envelope (GO:0001533)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	protein binding, bridging (GO:0030674)|structural molecule activity (GO:0005198)			breast(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	29	Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			AACCAGCCCTGCCCACAAAGG	0.587																																						ENST00000368764.3																			0				breast(1)|endometrium(6)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	29						c.(1675-1677)ctG>ctT		involucrin							66.0	67.0	66.0					1																	152883950		2203	4300	6503	SO:0001819	synonymous_variant	3713				isopeptide cross-linking via N6-(L-isoglutamyl)-L-lysine|keratinization|response to UV-B	cornified envelope|cytoplasm	protein binding, bridging|structural molecule activity	g.chr1:152883950G>T	BC046391	CCDS1030.1	1q21	2008-02-05			ENSG00000163207	ENSG00000163207			6187	protein-coding gene	gene with protein product		147360				2873896	Standard	NM_005547		Approved		uc001fau.3	P07476	OTTHUMG00000012451	ENST00000368764.3:c.1677G>T	1.37:g.152883950G>T						IVL_ENST00000392667.2_Silent_p.L413L	p.L559L			P07476	INVO_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)		2	1741	+	Lung NSC(65;3.97e-29)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		559					Q5T7P4	Silent	SNP	ENST00000368764.3	37	c.1677G>T	CCDS1030.1																																																																																				0.587	IVL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034664.1	NM_005547		65	109	1	0	2.02627e-32	1	2.71014e-32	65	109				
ITM2A	9452	broad.mit.edu	37	X	78616959	78616959	+	Silent	SNP	A	A	C			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chrX:78616959A>C	ENST00000373298.2	-	5	713	c.570T>G	c.(568-570)ccT>ccG	p.P190P	ITM2A_ENST00000469541.1_5'UTR|ITM2A_ENST00000434584.2_Silent_p.P146P	NM_004867.4	NP_004858.1	O43736	ITM2A_HUMAN	integral membrane protein 2A	190	BRICHOS. {ECO:0000255|PROSITE- ProRule:PRU00255}.					integral component of membrane (GO:0016021)				breast(1)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	18						CATAAGTTTGAGGCAGATATC	0.348																																						ENST00000434584.2																			0				breast(1)|kidney(1)|large_intestine(1)|lung(10)|ovary(1)|skin(3)|upper_aerodigestive_tract(1)	18						c.(436-438)ccT>ccG		integral membrane protein 2A							58.0	52.0	54.0					X																	78616959		2202	4297	6499	SO:0001819	synonymous_variant	9452					integral to membrane	protein binding	g.chrX:78616959A>C	BC034485	CCDS14444.1, CCDS55455.1	Xq13.3-q21.2	2012-10-10			ENSG00000078596	ENSG00000078596		"""BRICHOS domain containing"""	6173	protein-coding gene	gene with protein product	"""BRICHOS domain containing 2A"""	300222				9892734, 8702637	Standard	NM_004867		Approved	BRICD2A, E25A	uc004edh.3	O43736	OTTHUMG00000021900	ENST00000373298.2:c.570T>G	X.37:g.78616959A>C						ITM2A_ENST00000469541.1_5'UTR|ITM2A_ENST00000373298.2_Silent_p.P190P	p.P146P	NM_001171581.1	NP_001165052.1	O43736	ITM2A_HUMAN			4	774	-			190			BRICHOS.		B2R7X5|B4E062|Q6IBC9	Silent	SNP	ENST00000373298.2	37	c.438T>G	CCDS14444.1																																																																																				0.348	ITM2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057329.1	NM_004867		24	40	0	0	0	1	0	24	40				
DAW1	164781	broad.mit.edu	37	2	228786234	228786234	+	Silent	SNP	C	C	A			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr2:228786234C>A	ENST00000309931.2	+	12	1253	c.1170C>A	c.(1168-1170)atC>atA	p.I390I	DAW1_ENST00000545118.1_Silent_p.I375I|DAW1_ENST00000373666.2_3'UTR	NM_178821.1	NP_849143.1	Q8N136	DAW1_HUMAN	dynein assembly factor with WDR repeat domains 1	390						cilium (GO:0005929)											CTGATGAAATCTTTTCATGTG	0.443																																						ENST00000309931.2																			0											c.(1168-1170)atC>atA		dynein assembly factor with WDR repeat domains 1							98.0	93.0	95.0					2																	228786234		2203	4300	6503	SO:0001819	synonymous_variant	164781							g.chr2:228786234C>A		CCDS2470.1	2q36.3	2013-09-03	2013-02-19	2013-02-19	ENSG00000123977	ENSG00000123977		"""WD repeat domain containing"""	26383	protein-coding gene	gene with protein product	"""outer row dynein assembly 16 homolog (Chlamydomonas)"""		"""WD repeat domain 69"""	WDR69		20568242, 21953912	Standard	NM_178821		Approved	FLJ25955, ODA16	uc002vpn.1	Q8N136	OTTHUMG00000133190	ENST00000309931.2:c.1170C>A	2.37:g.228786234C>A						DAW1_ENST00000545118.1_Silent_p.I375I|DAW1_ENST00000373666.2_3'UTR	p.I390I	NM_178821.1	NP_849143.1					12	1253	+								Q6ZRY1|Q8N776	Silent	SNP	ENST00000309931.2	37	c.1170C>A	CCDS2470.1																																																																																				0.443	DAW1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331745.1	NM_178821		63	124	1	0	1.73933e-33	1	2.34098e-33	63	124				
ANKRD30BP2	149992	broad.mit.edu	37	21	14414855	14414855	+	RNA	SNP	A	A	G	rs201948955		TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr21:14414855A>G	ENST00000507941.1	+	0	95									ankyrin repeat domain 30B pseudogene 2																		GCCAATGGCCATGCAGAAGTA	0.448																																						ENST00000507941.1																			0																																																			149992							g.chr21:14414855A>G	AF427490		21q11.2	2010-06-14	2010-06-14	2010-06-14	ENSG00000224309	ENSG00000224309			16620	pseudogene	pseudogene	"""cancer/testis antigen 85"""		"""chromosome 21 open reading frame 99"""	C21orf99		12036297, 17114284	Standard	NR_026916		Approved	CT85, CTSP-1	uc002yja.4		OTTHUMG00000074164		21.37:g.14414855A>G														0	95	+									RNA	SNP	ENST00000507941.1	37																																																																																						0.448	ANKRD30BP2-004	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000372094.1	NR_026916		8	108	0	0	0	1	0	8	108				
C6orf118	168090	broad.mit.edu	37	6	165715262	165715262	+	Missense_Mutation	SNP	C	C	A			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr6:165715262C>A	ENST00000230301.8	-	2	569	c.549G>T	c.(547-549)aaG>aaT	p.K183N	C6orf118_ENST00000543069.1_Missense_Mutation_p.K79N	NM_144980.3	NP_659417.2	Q5T5N4	CF118_HUMAN	chromosome 6 open reading frame 118	183										breast(1)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	40		Breast(66;6.27e-05)|Ovarian(120;0.0228)|Prostate(117;0.0906)|all_neural(5;0.157)		OV - Ovarian serous cystadenocarcinoma(33;3.23e-18)|BRCA - Breast invasive adenocarcinoma(81;3.11e-06)|GBM - Glioblastoma multiforme(31;0.000313)		AGCACAGCACCTTCAAGTCGG	0.642																																						ENST00000543069.1																			0				breast(1)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	40						c.(235-237)aaG>aaT		chromosome 6 open reading frame 118							39.0	43.0	42.0					6																	165715262		2203	4300	6503	SO:0001583	missense	168090							g.chr6:165715262C>A		CCDS5288.1	6q27	2012-02-06			ENSG00000112539	ENSG00000112539			21233	protein-coding gene	gene with protein product							Standard	NM_144980		Approved	MGC23884, bA85G2.1	uc003qum.4	Q5T5N4	OTTHUMG00000015984	ENST00000230301.8:c.549G>T	6.37:g.165715262C>A	ENSP00000230301:p.Lys183Asn					C6orf118_ENST00000230301.8_Missense_Mutation_p.K183N	p.K79N			Q5T5N4	CF118_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;3.23e-18)|BRCA - Breast invasive adenocarcinoma(81;3.11e-06)|GBM - Glioblastoma multiforme(31;0.000313)	2	818	-		Breast(66;6.27e-05)|Ovarian(120;0.0228)|Prostate(117;0.0906)|all_neural(5;0.157)	183					Q8TC11	Missense_Mutation	SNP	ENST00000230301.8	37	c.237G>T	CCDS5288.1	.	.	.	.	.	.	.	.	.	.	C	15.27	2.784485	0.49997	.	.	ENSG00000112539	ENST00000230301;ENST00000543069	T;T	0.14766	2.48;2.48	4.9	0.592	0.17471	.	0.352897	0.25732	N	0.028662	T	0.12902	0.0313	M	0.64404	1.975	0.09310	N	1	D	0.76494	0.999	D	0.63283	0.913	T	0.05370	-1.0889	10	0.51188	T	0.08	-14.4665	7.0943	0.25301	0.0:0.4313:0.0:0.5687	.	183	Q5T5N4	CF118_HUMAN	N	183;79	ENSP00000230301:K183N;ENSP00000439288:K79N	ENSP00000230301:K183N	K	-	3	2	C6orf118	165635252	0.009000	0.17119	0.003000	0.11579	0.018000	0.09664	-0.273000	0.08548	0.135000	0.18707	0.655000	0.94253	AAG		0.642	C6orf118-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043026.1	NM_144980		75	125	1	0	2.37984e-18	1	2.87732e-18	75	125				
PPP4C	5531	broad.mit.edu	37	16	30093844	30093844	+	Missense_Mutation	SNP	G	G	C			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr16:30093844G>C	ENST00000279387.7	+	4	358	c.190G>C	c.(190-192)Gag>Cag	p.E64Q	PPP4C_ENST00000561610.1_Missense_Mutation_p.E64Q	NM_002720.1	NP_002711.1	P60510	PP4C_HUMAN	protein phosphatase 4, catalytic subunit	64					dephosphorylation (GO:0016311)|NIK/NF-kappaB signaling (GO:0038061)|regulation of double-strand break repair via homologous recombination (GO:0010569)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein phosphatase 4 complex (GO:0030289)	metal ion binding (GO:0046872)|NF-kappaB-inducing kinase activity (GO:0004704)|protein serine/threonine phosphatase activity (GO:0004722)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|liver(2)|lung(2)|pancreas(1)|skin(1)|urinary_tract(1)	9						TGACCTCAAAGAGCTGTTCAG	0.537																																						ENST00000279387.7																			0				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|liver(2)|lung(2)|pancreas(1)|skin(1)|urinary_tract(1)	9						c.(190-192)Gag>Cag		protein phosphatase 4, catalytic subunit							101.0	88.0	92.0					16																	30093844		2197	4300	6497	SO:0001583	missense	5531				microtubule cytoskeleton organization|regulation of double-strand break repair via homologous recombination	centrosome|nucleus	metal ion binding|NF-kappaB-inducing kinase activity|protein binding|protein serine/threonine phosphatase activity	g.chr16:30093844G>C		CCDS10669.1	16p11.2	2010-03-17	2010-03-05		ENSG00000149923	ENSG00000149923	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase, catalytic subunits"""	9319	protein-coding gene	gene with protein product	"""protein phosphatase X, catalytic subunit"""	602035	"""protein phosphatase 4 (formerly X), catalytic subunit"""			9177794	Standard	NM_002720		Approved	PP4, PPX	uc002dwf.3	P60510	OTTHUMG00000132113	ENST00000279387.7:c.190G>C	16.37:g.30093844G>C	ENSP00000279387:p.Glu64Gln					PPP4C_ENST00000561610.1_Missense_Mutation_p.E64Q	p.E64Q	NM_002720.1	NP_002711.1	P60510	PP4C_HUMAN			4	358	+			64					P33172	Missense_Mutation	SNP	ENST00000279387.7	37	c.190G>C	CCDS10669.1	.	.	.	.	.	.	.	.	.	.	G	16.87	3.240863	0.58995	.	.	ENSG00000149923	ENST00000279387	T	0.63913	-0.07	5.88	5.88	0.94601	Serine/threonine-specific protein phosphatase/bis(5-nucleosyl)-tetraphosphatase (2);Metallophosphoesterase domain (1);	0.000000	0.85682	D	0.000000	D	0.83599	0.5289	M	0.94063	3.49	0.80722	D	1	D	0.65815	0.995	P	0.60682	0.878	D	0.87268	0.2284	10	0.87932	D	0	-0.0661	19.012	0.92877	0.0:0.0:1.0:0.0	.	64	P60510	PP4C_HUMAN	Q	64	ENSP00000279387:E64Q	ENSP00000279387:E64Q	E	+	1	0	PPP4C	30001345	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	9.363000	0.97131	2.797000	0.96272	0.561000	0.74099	GAG		0.537	PPP4C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255155.2	NM_002720		51	59	0	0	0	1	0	51	59				
NOX5	79400	broad.mit.edu	37	15	69347743	69347743	+	Missense_Mutation	SNP	T	T	A			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr15:69347743T>A	ENST00000388866.3	+	15	2110	c.2069T>A	c.(2068-2070)cTg>cAg	p.L690Q	NOX5_ENST00000448182.3_Missense_Mutation_p.L644Q|NOX5_ENST00000530406.2_Missense_Mutation_p.L662Q|NOX5_ENST00000260364.5_Missense_Mutation_p.L672Q|NOX5_ENST00000455873.3_Missense_Mutation_p.L655Q	NM_001184779.1|NM_024505.3	NP_001171708.1|NP_078781.3	Q96PH1	NOX5_HUMAN	NADPH oxidase, EF-hand calcium binding domain 5	690					angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|cytokine secretion (GO:0050663)|cytokinesis (GO:0000910)|endothelial cell proliferation (GO:0001935)|oxidation-reduction process (GO:0055114)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|proton transport (GO:0015992)|regulation of fusion of sperm to egg plasma membrane (GO:0043012)|regulation of proton transport (GO:0010155)|superoxide anion generation (GO:0042554)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|flavin adenine dinucleotide binding (GO:0050660)|heme binding (GO:0020037)|hydrogen ion channel activity (GO:0015252)|NADP binding (GO:0050661)|superoxide-generating NADPH oxidase activity (GO:0016175)			breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(18)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35						GCCATTGGCCTGCAGATGGCC	0.597																																						ENST00000260364.5																			0				breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|liver(2)|lung(18)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	35						c.(2014-2016)cTg>cAg		NADPH oxidase, EF-hand calcium binding domain 5							57.0	51.0	53.0					15																	69347743		2200	4298	6498	SO:0001583	missense	79400				angiogenesis|cytokine secretion|cytokinesis|electron transport chain|endothelial cell proliferation|induction of apoptosis|positive regulation of reactive oxygen species metabolic process|regulation of fusion of sperm to egg plasma membrane|regulation of proton transport|superoxide anion generation	endoplasmic reticulum|integral to membrane	calcium ion binding|electron carrier activity|flavin adenine dinucleotide binding|heme binding|hydrogen ion channel activity|NADP binding|superoxide-generating NADPH oxidase activity	g.chr15:69347743T>A	AF317889	CCDS32276.1, CCDS32276.2, CCDS53953.1, CCDS53954.1	15q22.31	2013-01-10			ENSG00000255346	ENSG00000255346		"""EF-hand domain containing"""	14874	protein-coding gene	gene with protein product		606572				11483596	Standard	NM_001184779		Approved	NOX5A, NOX5B	uc002ars.2	Q96PH1	OTTHUMG00000133320	ENST00000388866.3:c.2069T>A	15.37:g.69347743T>A	ENSP00000373518:p.Leu690Gln					NOX5_ENST00000448182.3_Missense_Mutation_p.L644Q|NOX5_ENST00000388866.3_Missense_Mutation_p.L690Q|NOX5_ENST00000530406.2_Missense_Mutation_p.L662Q|NOX5_ENST00000455873.3_Missense_Mutation_p.L655Q	p.L672Q			Q96PH1	NOX5_HUMAN			16	2316	+			690					B2RBJ4|Q08AN2|Q08AN3|Q8TEQ1|Q8TER4|Q96PH2|Q96PJ8|Q96PJ9|Q9H6E0|Q9HAM8	Missense_Mutation	SNP	ENST00000388866.3	37	c.2015T>A	CCDS32276.2	.	.	.	.	.	.	.	.	.	.	T	16.95	3.262095	0.59431	.	.	ENSG00000255346	ENST00000455873;ENST00000448182;ENST00000388866;ENST00000530406	D;D;D	0.94931	-3.56;-3.56;-3.56	3.54	3.54	0.40534	Ferric reductase, NAD binding (1);	0.000000	0.56097	D	0.000023	D	0.96824	0.8963	M	0.86028	2.79	0.58432	D	0.999998	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.70016	0.958;0.967;0.944	D	0.96942	0.9688	10	0.87932	D	0	-8.8791	11.0823	0.48068	0.0:0.0:0.0:1.0	.	655;690;662	Q96PH1-6;Q96PH1;Q96PH1-3	.;NOX5_HUMAN;.	Q	655;672;690;662	ENSP00000416828:L655Q;ENSP00000373518:L690Q;ENSP00000432440:L662Q	ENSP00000373518:L690Q	L	+	2	0	NOX5	67134797	1.000000	0.71417	1.000000	0.80357	0.525000	0.34531	6.707000	0.74654	1.488000	0.48433	0.418000	0.28097	CTG		0.597	NOX5-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000257124.2	NM_024505		65	55	0	0	0	1	0	65	55				
KIT	3815	broad.mit.edu	37	4	55599309	55599309	+	Missense_Mutation	SNP	G	G	T			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr4:55599309G>T	ENST00000288135.5	+	17	2532	c.2435G>T	c.(2434-2436)gGt>gTt	p.G812V		NM_000222.2|NM_001093772.1	NP_000213.1|NP_001087241.1	P10721	KIT_HUMAN	v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	812	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		G -> V (in PBT). {ECO:0000269|PubMed:7687267}.		actin cytoskeleton reorganization (GO:0031532)|activation of MAPK activity (GO:0000187)|cell chemotaxis (GO:0060326)|cellular response to thyroid hormone stimulus (GO:0097067)|cytokine-mediated signaling pathway (GO:0019221)|dendritic cell cytokine production (GO:0002371)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|digestive tract development (GO:0048565)|ectopic germ cell programmed cell death (GO:0035234)|embryonic hemopoiesis (GO:0035162)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial cell proliferation (GO:0050673)|erythrocyte differentiation (GO:0030218)|erythropoietin-mediated signaling pathway (GO:0038162)|Fc receptor signaling pathway (GO:0038093)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|germ cell migration (GO:0008354)|glycosphingolipid metabolic process (GO:0006687)|hemopoiesis (GO:0030097)|immature B cell differentiation (GO:0002327)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|Kit signaling pathway (GO:0038109)|lamellipodium assembly (GO:0030032)|lymphoid progenitor cell differentiation (GO:0002320)|male gonad development (GO:0008584)|mast cell chemotaxis (GO:0002551)|mast cell cytokine production (GO:0032762)|mast cell degranulation (GO:0043303)|mast cell differentiation (GO:0060374)|mast cell proliferation (GO:0070662)|megakaryocyte development (GO:0035855)|melanocyte adhesion (GO:0097326)|melanocyte differentiation (GO:0030318)|melanocyte migration (GO:0097324)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of programmed cell death (GO:0043069)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ovarian follicle development (GO:0001541)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|pigmentation (GO:0043473)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of Notch signaling pathway (GO:0045747)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|positive regulation of pseudopodium assembly (GO:0031274)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|protein autophosphorylation (GO:0046777)|regulation of cell proliferation (GO:0042127)|regulation of cell shape (GO:0008360)|regulation of developmental pigmentation (GO:0048070)|signal transduction (GO:0007165)|signal transduction by phosphorylation (GO:0023014)|somatic stem cell division (GO:0048103)|somatic stem cell maintenance (GO:0035019)|spermatid development (GO:0007286)|spermatogenesis (GO:0007283)|stem cell differentiation (GO:0048863)|stem cell maintenance (GO:0019827)|T cell differentiation (GO:0030217)|visual learning (GO:0008542)	acrosomal vesicle (GO:0001669)|cell-cell junction (GO:0005911)|cytoplasmic side of plasma membrane (GO:0009898)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|mast cell granule (GO:0042629)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cytokine binding (GO:0019955)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|stem cell factor receptor activity (GO:0005020)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			NS(8)|autonomic_ganglia(1)|bone(21)|breast(2)|central_nervous_system(4)|endometrium(10)|eye(12)|genital_tract(18)|haematopoietic_and_lymphoid_tissue(1820)|kidney(17)|large_intestine(17)|lung(27)|ovary(23)|pancreas(4)|prostate(1)|salivary_gland(15)|skin(228)|soft_tissue(4117)|stomach(3)|testis(55)|thymus(7)|upper_aerodigestive_tract(1)	6411	all_cancers(7;0.00453)|all_lung(4;0.000565)|Lung NSC(11;0.00129)|all_epithelial(27;0.0104)|Glioma(25;0.08)|all_neural(26;0.101)		LUSC - Lung squamous cell carcinoma(32;0.000276)|Epithelial(7;0.209)	Colorectal(1;0.0276)|COAD - Colon adenocarcinoma(1;0.171)	Dasatinib(DB01254)|Imatinib(DB00619)|Nilotinib(DB04868)|Pazopanib(DB06589)|Ponatinib(DB08901)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	TGTGATTTTGGTCTAGCCAGA	0.393		1	"""Mis, O"""		"""GIST, AML, TGCT, mastocytosis, mucosal melanoma"""	"""GIST, epithelioma"""	Piebald trait		Piebaldism;Mast Cell disease, Familial Clustering of;Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Gastrointestinal Stromal Tumors																													ENST00000288135.5		1	yes	Dom	yes	Familial gastrointestinal stromal tumour	4	4q12	3815	"""Mis, O"""	v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	yes	Piebald trait	"""L, M, O, E"""		"""GIST, epithelioma"""	"""GIST, AML, TGCT, mastocytosis, mucosal melanoma"""		0				NS(8)|autonomic_ganglia(1)|bone(21)|breast(2)|central_nervous_system(4)|endometrium(10)|eye(12)|genital_tract(18)|haematopoietic_and_lymphoid_tissue(1820)|kidney(17)|large_intestine(17)|lung(27)|ovary(23)|pancreas(4)|prostate(1)|salivary_gland(15)|skin(228)|soft_tissue(4117)|stomach(3)|testis(55)|thymus(7)|upper_aerodigestive_tract(1)	6411	GRCh37	CM931255	KIT	M		c.(2434-2436)gGt>gTt		v-kit Hardy-Zuckerman 4 feline sarcoma viral oncogene homolog	Dasatinib(DB01254)|Imatinib(DB00619)|Sorafenib(DB00398)|Sunitinib(DB01268)						136.0	137.0	137.0					4																	55599309		2203	4300	6503	SO:0001583	missense	3815	Piebaldism;Mast Cell disease, Familial Clustering of;Gastrointestinal Stromal Tumors, Sporadic Multiple Primary;Familial Gastrointestinal Stromal Tumors	Familial Cancer Database	Piebald trait;incl.: Familial Cutaneous Mastocytosis (Urticaria Pigmentosum);Sporadic Multiple GIST;Familial GIST, incl. Multiple Familial Gastrointestinal Autonomic Nerve Tumors (GANT)	male gonad development|transmembrane receptor protein tyrosine kinase signaling pathway	extracellular space|integral to membrane	ATP binding|protein binding|receptor signaling protein tyrosine kinase activity	g.chr4:55599309G>T	S67773	CCDS3496.1, CCDS47058.1	4q12	2014-09-17			ENSG00000157404	ENSG00000157404		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6342	protein-coding gene	gene with protein product		164920	"""piebald trait"""	PBT		9027509	Standard	NM_001093772		Approved	CD117, SCFR, C-Kit	uc010igr.3	P10721	OTTHUMG00000128713	ENST00000288135.5:c.2435G>T	4.37:g.55599309G>T	ENSP00000288135:p.Gly812Val						p.G812V	NM_000222.2|NM_001093772.1	NP_000213.1|NP_001087241.1	P10721	KIT_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.000276)|Epithelial(7;0.209)	Colorectal(1;0.0276)|COAD - Colon adenocarcinoma(1;0.171)	17	2532	+	all_cancers(7;0.00453)|all_lung(4;0.000565)|Lung NSC(11;0.00129)|all_epithelial(27;0.0104)|Glioma(25;0.08)|all_neural(26;0.101)		812		G -> V (in PBT).	Protein kinase.		B5A956|D5LXN2|D5M931|F5H8F8|Q6IQ28|Q99662|Q9UM99	Missense_Mutation	SNP	ENST00000288135.5	37	c.2435G>T	CCDS3496.1	.	.	.	.	.	.	.	.	.	.	G	26.9	4.783218	0.90282	.	.	ENSG00000157404	ENST00000288135;ENST00000412167	D;D	0.99270	-5.66;-5.66	5.62	5.62	0.85841	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.64402	D	0.000017	D	0.99674	0.9878	H	0.97103	3.94	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.97598	1.0121	10	0.87932	D	0	.	19.6484	0.95791	0.0:0.0:1.0:0.0	.	808;812	P10721-2;P10721	.;KIT_HUMAN	V	812;808	ENSP00000288135:G812V;ENSP00000390987:G808V	ENSP00000288135:G812V	G	+	2	0	KIT	55294066	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	9.700000	0.98707	2.659000	0.90383	0.585000	0.79938	GGT		0.393	KIT-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000250618.1			81	121	1	0	1.4051e-37	1	1.91524e-37	81	121				
PCDH15	65217	broad.mit.edu	37	10	55591201	55591201	+	Missense_Mutation	SNP	G	G	T			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr10:55591201G>T	ENST00000320301.6	-	30	4470	c.4076C>A	c.(4075-4077)gCa>gAa	p.A1359E	PCDH15_ENST00000395430.1_Missense_Mutation_p.A1359E|PCDH15_ENST00000395438.1_Missense_Mutation_p.A1359E|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000437009.1_Missense_Mutation_p.A1288E|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000409834.1_Missense_Mutation_p.A970E|PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000373965.2_Missense_Mutation_p.A1366E|PCDH15_ENST00000395432.2_Missense_Mutation_p.A1322E|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000395433.1_Missense_Mutation_p.A1337E|PCDH15_ENST00000361849.3_Missense_Mutation_p.A1359E|PCDH15_ENST00000395445.1_Missense_Mutation_p.A1366E|PCDH15_ENST00000414778.1_Missense_Mutation_p.A1364E	NM_033056.3	NP_149045.3	Q96QU1	PCD15_HUMAN	protocadherin-related 15	1359					equilibrioception (GO:0050957)|homophilic cell adhesion (GO:0007156)|photoreceptor cell maintenance (GO:0045494)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|stereocilium (GO:0032420)|synapse (GO:0045202)	calcium ion binding (GO:0005509)			NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237		Melanoma(3;0.117)|Lung SC(717;0.238)				GCTGGTCACTGCCTCTGGAGT	0.463										HNSCC(58;0.16)																												ENST00000373965.2																			0				NS(3)|breast(6)|central_nervous_system(1)|cervix(3)|endometrium(18)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(39)|lung(108)|ovary(5)|pancreas(6)|prostate(6)|skin(12)|upper_aerodigestive_tract(12)|urinary_tract(1)	237						c.(4096-4098)gCa>gAa		protocadherin-related 15							229.0	196.0	208.0					10																	55591201		2203	4300	6503	SO:0001583	missense	65217				equilibrioception|homophilic cell adhesion|photoreceptor cell maintenance|sensory perception of sound	extracellular region|extracellular space|integral to membrane|photoreceptor outer segment|plasma membrane|stereocilium|synapse	calcium ion binding	g.chr10:55591201G>T	AY029205	CCDS7248.1, CCDS44400.1, CCDS44401.1, CCDS44403.1, CCDS44404.1, CCDS73134.1, CCDS73135.1, CCDS73136.1, CCDS73137.1, CCDS73138.1	10q21.1	2013-01-08	2010-01-25		ENSG00000150275	ENSG00000150275		"""Cadherins / Cadherin-related"""	14674	protein-coding gene	gene with protein product	"""cadherin-related family member 15"""	605514	"""deafness, autosomal recessive 23"", ""protocadherin 15"""	USH1F, DFNB23		11398101, 14570705	Standard	NM_033056		Approved	CDHR15	uc010qhy.1	Q96QU1	OTTHUMG00000018259	ENST00000320301.6:c.4076C>A	10.37:g.55591201G>T	ENSP00000322604:p.Ala1359Glu	HNSCC(58;0.16)				PCDH15_ENST00000395432.2_Missense_Mutation_p.A1322E|PCDH15_ENST00000395433.1_Missense_Mutation_p.A1337E|PCDH15_ENST00000409834.1_Missense_Mutation_p.A970E|PCDH15_ENST00000361849.3_Missense_Mutation_p.A1359E|PCDH15_ENST00000414778.1_Missense_Mutation_p.A1364E|PCDH15_ENST00000395438.1_Missense_Mutation_p.A1359E|PCDH15_ENST00000395446.1_Intron|PCDH15_ENST00000395442.1_Intron|PCDH15_ENST00000320301.6_Missense_Mutation_p.A1359E|PCDH15_ENST00000437009.1_Missense_Mutation_p.A1288E|PCDH15_ENST00000395440.1_Intron|PCDH15_ENST00000395445.1_Missense_Mutation_p.A1366E|PCDH15_ENST00000373957.3_Intron|PCDH15_ENST00000463095.1_5'UTR|PCDH15_ENST00000395430.1_Missense_Mutation_p.A1359E	p.A1366E	NM_001142771.1|NM_001142772.1	NP_001136243.1|NP_001136244.1	Q96QU1	PCD15_HUMAN			31	4491	-		Melanoma(3;0.117)|Lung SC(717;0.238)	1359					A6NL19|C6ZEF5|C6ZEF6|C6ZEF7|Q5VY38|Q5VY39|Q6TRH8|Q8NDB9|Q96QT8	Missense_Mutation	SNP	ENST00000320301.6	37	c.4097C>A	CCDS7248.1	.	.	.	.	.	.	.	.	.	.	G	23.2	4.382589	0.82792	.	.	ENSG00000150275	ENST00000373965;ENST00000414778;ENST00000455746;ENST00000395438;ENST00000409834;ENST00000395445;ENST00000395432;ENST00000361849;ENST00000395433;ENST00000320301;ENST00000395430;ENST00000417177;ENST00000437009	T;T;T;T;T;T;T;T;T;T;T	0.61158	0.3;0.32;0.23;0.25;0.24;0.17;0.15;0.19;0.15;0.13;0.14	5.75	5.75	0.90469	.	.	.	.	.	T	0.57344	0.2047	N	0.19112	0.55	0.36959	D	0.89322	D;D;D;B;D;D;D;P;D;D;P;P;D	0.69078	0.997;0.995;0.995;0.228;0.994;0.995;0.984;0.764;0.966;0.966;0.764;0.858;0.981	D;P;P;B;D;P;P;P;P;P;P;P;P	0.66351	0.943;0.863;0.863;0.148;0.922;0.863;0.842;0.493;0.716;0.716;0.493;0.493;0.716	T	0.64127	-0.6480	9	0.54805	T	0.06	.	7.9257	0.29872	0.1934:0.0:0.8066:0.0	.	1337;1359;1359;1364;1288;1322;1359;1359;1366;1366;1359;1364;1359	A2A3E8;E7EMG4;A2A3E7;C9JIG1;E7EM53;E7EMG0;A2A3E6;A2A3E3;C6ZEF5;A2A3E2;C6ZEF7;C9J4F3;Q96QU1	.;.;.;.;.;.;.;.;.;.;.;.;PCD15_HUMAN	E	1366;1364;1359;1359;970;1366;1322;1359;1337;1359;1359;1364;1288	ENSP00000363076:A1366E;ENSP00000410304:A1364E;ENSP00000378826:A1359E;ENSP00000386693:A970E;ENSP00000378832:A1366E;ENSP00000378820:A1322E;ENSP00000354950:A1359E;ENSP00000378821:A1337E;ENSP00000322604:A1359E;ENSP00000378818:A1359E;ENSP00000412628:A1288E	ENSP00000322604:A1359E	A	-	2	0	PCDH15	55261207	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.590000	0.82653	2.709000	0.92574	0.585000	0.79938	GCA		0.463	PCDH15-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000048121.2	NM_033056		41	88	1	0	3.38236e-24	1	4.28298e-24	41	88				
PLEKHA7	144100	broad.mit.edu	37	11	16838753	16838753	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr11:16838753G>A	ENST00000355661.3	-	11	1470	c.1460C>T	c.(1459-1461)cCt>cTt	p.P487L	PLEKHA7_ENST00000531066.1_Missense_Mutation_p.P487L|PLEKHA7_ENST00000448080.2_Missense_Mutation_p.P487L|PLEKHA7_ENST00000532079.1_Intron			Q6IQ23	PKHA7_HUMAN	pleckstrin homology domain containing, family A member 7	487					epithelial cell-cell adhesion (GO:0090136)|zonula adherens maintenance (GO:0045218)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|zonula adherens (GO:0005915)	delta-catenin binding (GO:0070097)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	37						GTTTCGGGGAGGTGGCGAGGA	0.637																																						ENST00000355661.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	37						c.(1459-1461)cCt>cTt		pleckstrin homology domain containing, family A member 7							61.0	69.0	66.0					11																	16838753		2200	4294	6494	SO:0001583	missense	144100				epithelial cell-cell adhesion|zonula adherens maintenance	centrosome|zonula adherens	delta-catenin binding	g.chr11:16838753G>A	BC033239	CCDS31434.1	11p15	2013-01-10			ENSG00000166689	ENSG00000166689		"""Pleckstrin homology (PH) domain containing"""	27049	protein-coding gene	gene with protein product		612686				12477932	Standard	NM_175058		Approved	DKFZp686M22243	uc001mmo.3	Q6IQ23	OTTHUMG00000165954	ENST00000355661.3:c.1460C>T	11.37:g.16838753G>A	ENSP00000347883:p.Pro487Leu					PLEKHA7_ENST00000531066.1_Missense_Mutation_p.P487L|PLEKHA7_ENST00000532079.1_Intron|PLEKHA7_ENST00000448080.2_Missense_Mutation_p.P487L	p.P487L			Q6IQ23	PKHA7_HUMAN			11	1470	-			487					B4DK33|B4DWC3|Q86VZ7	Missense_Mutation	SNP	ENST00000355661.3	37	c.1460C>T	CCDS31434.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	17.02|17.02	3.282635|3.282635	0.59867|0.59867	.|.	.|.	ENSG00000166689|ENSG00000166689	ENST00000530489|ENST00000531066;ENST00000355661;ENST00000448080	.|T;T;T	.|0.08102	.|3.13;3.13;3.13	4.97|4.97	4.97|4.97	0.65823|0.65823	.|.	.|0.104470	.|0.64402	.|D	.|0.000002	T|T	0.24044|0.24044	0.0582|0.0582	M|M	0.64404|0.64404	1.975|1.975	0.42463|0.42463	D|D	0.992797|0.992797	.|D;D;D;D	.|0.64830	.|0.983;0.982;0.972;0.994	.|P;P;P;P	.|0.60117	.|0.755;0.743;0.573;0.869	T|T	0.00719|0.00719	-1.1595|-1.1595	5|10	.|0.41790	.|T	.|0.15	-10.7452|-10.7452	18.229|18.229	0.89928|0.89928	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|61;487;487;487	.|Q6IQ23-3;E9PKC0;Q6IQ23;Q6IQ23-2	.|.;.;PKHA7_HUMAN;.	F|L	118|487	.|ENSP00000435389:P487L;ENSP00000347883:P487L;ENSP00000416895:P487L	.|ENSP00000347883:P487L	L|P	-|-	1|2	0|0	PLEKHA7|PLEKHA7	16795329|16795329	1.000000|1.000000	0.71417|0.71417	0.995000|0.995000	0.50966|0.50966	0.876000|0.876000	0.50452|0.50452	6.099000|6.099000	0.71466|0.71466	2.311000|2.311000	0.77944|0.77944	0.462000|0.462000	0.41574|0.41574	CTC|CCT		0.637	PLEKHA7-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000387242.2	NM_175058		140	152	0	0	0	1	0	140	152				
UNC45B	146862	broad.mit.edu	37	17	33510534	33510534	+	Missense_Mutation	SNP	C	C	T	rs144530439		TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr17:33510534C>T	ENST00000268876.5	+	19	2565	c.2468C>T	c.(2467-2469)gCg>gTg	p.A823V	UNC45B_ENST00000394570.2_Missense_Mutation_p.A821V|UNC45B_ENST00000591048.1_Missense_Mutation_p.A742V|UNC45B_ENST00000433649.1_Missense_Mutation_p.A821V|UNC45B_ENST00000378449.1_Missense_Mutation_p.A742V	NM_173167.2	NP_775259.1	Q8IWX7	UN45B_HUMAN	unc-45 homolog B (C. elegans)	823					cell differentiation (GO:0030154)|chaperone-mediated protein folding (GO:0061077)|muscle organ development (GO:0007517)	cytoplasm (GO:0005737)|cytosol (GO:0005829)				breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(10)|lung(24)|ovary(3)|prostate(2)|skin(1)|stomach(1)|urinary_tract(3)	59		Ovarian(249;0.17)				GTGCAGAATGCGGCTGCAGGG	0.587																																						ENST00000268876.5																			0				breast(1)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(10)|lung(24)|ovary(3)|prostate(2)|skin(1)|stomach(1)|urinary_tract(3)	59						c.(2467-2469)gCg>gTg		unc-45 homolog B (C. elegans)		C	VAL/ALA,VAL/ALA	1,4405	2.1+/-5.4	0,1,2202	104.0	85.0	91.0		2462,2468	5.2	0.7	17	dbSNP_134	91	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	UNC45B	NM_001033576.1,NM_173167.2	64,64	0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154	probably-damaging,probably-damaging	821/930,823/932	33510534	2,13004	2203	4300	6503	SO:0001583	missense	146862				cell differentiation|muscle organ development	cytosol	binding	g.chr17:33510534C>T	AW755253	CCDS11292.1, CCDS45648.1	17q12	2008-02-05	2005-11-17	2005-11-17	ENSG00000141161	ENSG00000141161			14304	protein-coding gene	gene with protein product		611220	"""cardiomyopathy associated 4"""	CMYA4		12356907	Standard	NM_001267052		Approved	UNC45	uc002hja.3	Q8IWX7	OTTHUMG00000132931	ENST00000268876.5:c.2468C>T	17.37:g.33510534C>T	ENSP00000268876:p.Ala823Val					UNC45B_ENST00000591048.1_Missense_Mutation_p.A742V|UNC45B_ENST00000378449.1_Missense_Mutation_p.A742V|UNC45B_ENST00000433649.1_Missense_Mutation_p.A821V|UNC45B_ENST00000394570.2_Missense_Mutation_p.A821V	p.A823V	NM_173167.2	NP_775259.1	Q8IWX7	UN45B_HUMAN			19	2565	+		Ovarian(249;0.17)	823					Q495Q8|Q495Q9	Missense_Mutation	SNP	ENST00000268876.5	37	c.2468C>T	CCDS11292.1	.	.	.	.	.	.	.	.	.	.	C	32	5.138703	0.94560	2.27E-4	1.16E-4	ENSG00000141161	ENST00000394570;ENST00000268876;ENST00000433649;ENST00000378449	T;T;T;T	0.50548	1.53;0.74;1.4;0.74	5.16	5.16	0.70880	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.77412	0.4126	M	0.93808	3.46	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.996;0.999;0.999	D	0.83549	0.0100	10	0.87932	D	0	-13.3793	17.8237	0.88657	0.0:1.0:0.0:0.0	.	742;821;823	Q8IWX7-2;Q8IWX7-3;Q8IWX7	.;.;UN45B_HUMAN	V	823;823;821;742	ENSP00000378071:A823V;ENSP00000268876:A823V;ENSP00000412840:A821V;ENSP00000367710:A742V	ENSP00000268876:A823V	A	+	2	0	UNC45B	30534647	1.000000	0.71417	0.729000	0.30791	0.865000	0.49528	5.860000	0.69546	2.685000	0.91497	0.655000	0.94253	GCG		0.587	UNC45B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256458.2	NM_173167		4	128	0	0	0	1	0	4	128				
NBPF1	55672	broad.mit.edu	37	1	16892175	16892175	+	Missense_Mutation	SNP	A	A	T			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr1:16892175A>T	ENST00000430580.2	-	27	3904	c.3017T>A	c.(3016-3018)tTt>tAt	p.F1006Y		NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1	1006	NBPF 6. {ECO:0000255|PROSITE- ProRule:PRU00647}.					cytoplasm (GO:0005737)									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		CAATGCATAAAAGGAACTTCC	0.448																																						ENST00000430580.2																			0											c.(3016-3018)tTt>tAt		neuroblastoma breakpoint family, member 1							126.0	121.0	123.0					1																	16892175		1487	2640	4127	SO:0001583	missense	55672					cytoplasm		g.chr1:16892175A>T	AB051480		1p36.13	2013-01-30			ENSG00000219481	ENSG00000219481		"""neuroblastoma breakpoint family"""	26088	protein-coding gene	gene with protein product		610501				11214970, 16079250	Standard	NM_017940		Approved	FLJ20719, KIAA1693	uc001ayw.4	Q3BBV0	OTTHUMG00000002487	ENST00000430580.2:c.3017T>A	1.37:g.16892175A>T	ENSP00000474456:p.Phe1006Tyr						p.F1006Y	NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)	27	3904	-			1006			NBPF 6.		Q8N4E8|Q9C0H0	Missense_Mutation	SNP	ENST00000430580.2	37	c.3017T>A																																																																																					0.448	NBPF1-005	NOVEL	upstream_uORF|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000106436.3	NM_017940		109	4441	0	0	0	1	0	109	4441				
DUSP22	56940	broad.mit.edu	37	6	348835	348835	+	Missense_Mutation	SNP	A	A	G			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr6:348835A>G	ENST00000344450.5	+	7	945	c.502A>G	c.(502-504)Att>Gtt	p.I168V	DUSP22_ENST00000604971.1_Missense_Mutation_p.I65V|DUSP22_ENST00000603453.1_Missense_Mutation_p.I65V|DUSP22_ENST00000605315.1_Missense_Mutation_p.I65V|DUSP22_ENST00000605035.1_3'UTR|DUSP22_ENST00000419235.2_Missense_Mutation_p.I168V	NM_020185.3	NP_064570.1	Q9NRW4	DUS22_HUMAN	dual specificity phosphatase 22	168					apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|inactivation of MAPK activity (GO:0000188)|multicellular organismal development (GO:0007275)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of JNK cascade (GO:0046330)|protein dephosphorylation (GO:0006470)|regulation of cell proliferation (GO:0042127)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(2)	26	all_hematologic(77;0.228)	Breast(5;0.0249)|all_hematologic(90;0.0489)		OV - Ovarian serous cystadenocarcinoma(45;0.0277)|BRCA - Breast invasive adenocarcinoma(62;0.0669)		AGCCAAAAACATTCTGGGTAA	0.537																																						ENST00000604971.1																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(2)	26						c.(193-195)Att>Gtt		dual specificity phosphatase 22							108.0	100.0	103.0					6																	348835		2203	4300	6503	SO:0001583	missense	56940				apoptosis|cell proliferation|inactivation of MAPK activity|multicellular organismal development|positive regulation of JNK cascade|regulation of cell proliferation|transforming growth factor beta receptor signaling pathway	cytoplasm|nucleus	protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr6:348835A>G	AF165519	CCDS4468.1, CCDS69035.1	6p25.3	2013-09-19			ENSG00000112679	ENSG00000112679		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Atypical dual specificity phosphatases"""	16077	protein-coding gene	gene with protein product						9205128, 11717427	Standard	NM_001286555		Approved	MKPX, JSP1, JKAP, VHX	uc003msx.3	Q9NRW4	OTTHUMG00000014113	ENST00000344450.5:c.502A>G	6.37:g.348835A>G	ENSP00000345281:p.Ile168Val					DUSP22_ENST00000603453.1_Missense_Mutation_p.I65V|DUSP22_ENST00000605035.1_3'UTR|DUSP22_ENST00000605315.1_Missense_Mutation_p.I65V|DUSP22_ENST00000344450.5_Missense_Mutation_p.I168V|DUSP22_ENST00000419235.2_Missense_Mutation_p.I168V	p.I65V			Q9NRW4	DUS22_HUMAN		OV - Ovarian serous cystadenocarcinoma(45;0.0277)|BRCA - Breast invasive adenocarcinoma(62;0.0669)	4	1306	+	all_hematologic(77;0.228)	Breast(5;0.0249)|all_hematologic(90;0.0489)	168			Tyrosine-protein phosphatase.		B4DK56|Q59GW2|Q5VWR2|Q96AR1	Missense_Mutation	SNP	ENST00000344450.5	37	c.193A>G	CCDS4468.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	14.22|14.22	2.469773|2.469773	0.43839|0.43839	.|.	.|.	ENSG00000112679|ENSG00000112679	ENST00000419235|ENST00000344450	.|T	.|0.04194	.|3.68	4.8|4.8	4.8|4.8	0.61643|0.61643	.|.	.|0.088991	.|0.47852	.|D	.|0.000203	T|T	0.02083|0.02083	0.0065|0.0065	L|L	0.48642|0.48642	1.525|1.525	0.30952|0.30952	N|N	0.724658|0.724658	.|B;B;B	.|0.28378	.|0.082;0.105;0.209	.|B;B;B	.|0.26770	.|0.041;0.073;0.073	T|T	0.35798|0.35798	-0.9774|-0.9774	5|10	.|0.40728	.|T	.|0.16	.|.	10.5336|10.5336	0.44992|0.44992	0.696:0.304:0.0:0.0|0.696:0.304:0.0:0.0	.|.	.|168;125;168	.|Q9NRW4-2;B3KSA8;Q9NRW4	.|.;.;DUS22_HUMAN	R|V	105|168	.|ENSP00000345281:I168V	.|ENSP00000345281:I168V	H|I	+|+	2|1	0|0	DUSP22|DUSP22	293835|293835	1.000000|1.000000	0.71417|0.71417	0.886000|0.886000	0.34754|0.34754	0.892000|0.892000	0.51952|0.51952	4.465000|4.465000	0.60141|0.60141	1.911000|1.911000	0.55334|0.55334	0.533000|0.533000	0.62120|0.62120	CAT|ATT		0.537	DUSP22-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000039621.1	NM_020185		30	167	0	0	0	1	0	30	167				
PAPSS2	9060	broad.mit.edu	37	10	89503171	89503171	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr10:89503171G>A	ENST00000361175.4	+	10	1618	c.1249G>A	c.(1249-1251)Ggc>Agc	p.G417S	PAPSS2_ENST00000456849.1_Missense_Mutation_p.G422S|PAPSS2_ENST00000427144.2_Missense_Mutation_p.G421S	NM_004670.3	NP_004661.2	O95340	PAPS2_HUMAN	3'-phosphoadenosine 5'-phosphosulfate synthase 2	417					3'-phosphoadenosine 5'-phosphosulfate biosynthetic process (GO:0050428)|3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|blood coagulation (GO:0007596)|bone development (GO:0060348)|carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|skeletal system development (GO:0001501)|small molecule metabolic process (GO:0044281)|sulfate assimilation (GO:0000103)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	adenylylsulfate kinase activity (GO:0004020)|ATP binding (GO:0005524)|nucleotidyltransferase activity (GO:0016779)|sulfate adenylyltransferase (ATP) activity (GO:0004781)			central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|stomach(1)	20		Melanoma(5;0.019)|Colorectal(252;0.123)		UCEC - Uterine corpus endometrioid carcinoma (6;0.00164)|Colorectal(12;0.000323)|COAD - Colon adenocarcinoma(12;0.00124)		TGTCCACAATGGCCATGCCCT	0.562																																						ENST00000361175.4																			0				central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(8)|ovary(1)|skin(1)|stomach(1)	20						c.(1249-1251)Ggc>Agc		3'-phosphoadenosine 5'-phosphosulfate synthase 2							157.0	144.0	148.0					10																	89503171		2203	4300	6503	SO:0001583	missense	9060				3'-phosphoadenosine 5'-phosphosulfate biosynthetic process|skeletal system development|sulfate assimilation|xenobiotic metabolic process	cytosol	adenylylsulfate kinase activity|ATP binding|protein binding|sulfate adenylyltransferase (ATP) activity	g.chr10:89503171G>A	AF091242	CCDS7385.1, CCDS44453.1	10q24	2008-02-07			ENSG00000198682	ENSG00000198682	2.7.7.4, 2.7.1.25		8604	protein-coding gene	gene with protein product		603005				9771708	Standard	NM_004670		Approved	ATPSK2	uc001kex.3	O95340	OTTHUMG00000018683	ENST00000361175.4:c.1249G>A	10.37:g.89503171G>A	ENSP00000354436:p.Gly417Ser					PAPSS2_ENST00000427144.2_Missense_Mutation_p.G421S|PAPSS2_ENST00000456849.1_Missense_Mutation_p.G422S	p.G417S	NM_004670.3	NP_004661.2	O95340	PAPS2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (6;0.00164)|Colorectal(12;0.000323)|COAD - Colon adenocarcinoma(12;0.00124)	10	1618	+		Melanoma(5;0.019)|Colorectal(252;0.123)	417					Q9BZL2|Q9P0G6|Q9UHM1|Q9UKD3|Q9UP30	Missense_Mutation	SNP	ENST00000361175.4	37	c.1249G>A	CCDS7385.1	.	.	.	.	.	.	.	.	.	.	G	35	5.522866	0.96431	.	.	ENSG00000198682	ENST00000361175;ENST00000456849;ENST00000427144;ENST00000371981	T;T;T	0.39056	1.1;1.1;1.1	5.33	5.33	0.75918	Sulphate adenylyltransferase (2);Rossmann-like alpha/beta/alpha sandwich fold (1);	0.094628	0.64402	D	0.000001	T	0.70988	0.3287	M	0.86740	2.835	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.75569	-0.3272	10	0.72032	D	0.01	-20.5817	19.2123	0.93760	0.0:0.0:1.0:0.0	.	417;422	O95340;O95340-2	PAPS2_HUMAN;.	S	417;422;421;421	ENSP00000354436:G417S;ENSP00000406157:G422S;ENSP00000397123:G421S	ENSP00000354436:G417S	G	+	1	0	PAPSS2	89493151	1.000000	0.71417	0.989000	0.46669	0.952000	0.60782	9.257000	0.95545	2.771000	0.95319	0.561000	0.74099	GGC		0.562	PAPSS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049229.1			30	256	0	0	0	1	0	30	256				
SAMHD1	25939	broad.mit.edu	37	20	35526865	35526865	+	Missense_Mutation	SNP	G	G	T			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr20:35526865G>T	ENST00000262878.4	-	14	1785	c.1586C>A	c.(1585-1587)gCa>gAa	p.A529E		NM_015474.3	NP_056289.2	Q9Y3Z3	SAMH1_HUMAN	SAM domain and HD domain 1	529					dATP catabolic process (GO:0046061)|defense response to virus (GO:0051607)|dGTP catabolic process (GO:0006203)|immune response (GO:0006955)|innate immune response (GO:0045087)|protein homotetramerization (GO:0051289)|regulation of innate immune response (GO:0045088)	intracellular (GO:0005622)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	dGTP binding (GO:0032567)|dGTPase activity (GO:0008832)|nucleic acid binding (GO:0003676)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|urinary_tract(1)	20		Myeloproliferative disorder(115;0.00878)				AATCCTGATTGCTCTGTTGGG	0.318																																						ENST00000262878.4																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(8)|urinary_tract(1)	20						c.(1585-1587)gCa>gAa		SAM domain and HD domain 1							204.0	188.0	194.0					20																	35526865		2203	4300	6503	SO:0001583	missense	25939				defense response to virus|innate immune response|regulation of innate immune response	nucleus	metal ion binding|phosphoric diester hydrolase activity	g.chr20:35526865G>T	AF228421	CCDS13288.1	20q11.23	2014-09-17			ENSG00000101347	ENSG00000101347		"""Sterile alpha motif (SAM) domain containing"""	15925	protein-coding gene	gene with protein product	"""HD domain containing 1"", ""monocyte protein 5"", ""Aicardi-Goutieres syndrome 5"""	606754				11064105, 11230166	Standard	NM_015474		Approved	SBBI88, Mg11, HDDC1, MOP-5, AGS5	uc002xgh.2	Q9Y3Z3	OTTHUMG00000032402	ENST00000262878.4:c.1586C>A	20.37:g.35526865G>T	ENSP00000262878:p.Ala529Glu						p.A529E	NM_015474.3	NP_056289.2	Q9Y3Z3	SAMH1_HUMAN			14	1785	-		Myeloproliferative disorder(115;0.00878)	529					B4E2A5|E1P5V2|Q5JXG8|Q8N491|Q9H004|Q9H005|Q9H3U9	Missense_Mutation	SNP	ENST00000262878.4	37	c.1586C>A	CCDS13288.1	.	.	.	.	.	.	.	.	.	.	G	19.13	3.768654	0.69878	.	.	ENSG00000101347	ENST00000262878	D	0.95035	-3.59	5.62	5.62	0.85841	.	0.170041	0.51477	D	0.000094	D	0.95519	0.8544	M	0.76574	2.34	0.80722	D	1	B	0.33748	0.423	B	0.42798	0.398	D	0.94429	0.7648	10	0.42905	T	0.14	-7.3973	19.265	0.93982	0.0:0.0:1.0:0.0	.	529	Q9Y3Z3	SAMH1_HUMAN	E	529	ENSP00000262878:A529E	ENSP00000262878:A529E	A	-	2	0	SAMHD1	34960279	0.992000	0.36948	0.011000	0.14972	0.019000	0.09904	5.550000	0.67268	2.639000	0.89480	0.585000	0.79938	GCA		0.318	SAMHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079062.2	NM_015474		47	75	1	0	2.74695e-27	1	3.56271e-27	47	75				
OR5V1	81696	broad.mit.edu	37	6	29323420	29323420	+	Silent	SNP	G	G	A			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr6:29323420G>A	ENST00000377154.1	-	4	852	c.553C>T	c.(553-555)Ctg>Ttg	p.L185L	OR5V1_ENST00000543825.1_Silent_p.L185L			Q9UGF6	OR5V1_HUMAN	olfactory receptor, family 5, subfamily V, member 1	185						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|kidney(3)|large_intestine(3)|liver(1)|lung(8)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						GACAAGATCAGCAAAGGGGGG	0.448																																					Ovarian(32;43 883 21137 32120 42650)	ENST00000377154.1																			0				breast(1)|kidney(3)|large_intestine(3)|liver(1)|lung(8)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						c.(553-555)Ctg>Ttg		olfactory receptor, family 5, subfamily V, member 1							91.0	85.0	87.0					6																	29323420		2203	4299	6502	SO:0001819	synonymous_variant	81696				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr6:29323420G>A		CCDS4657.1	6p22.1	2013-09-23				ENSG00000243729		"""GPCR / Class A : Olfactory receptors"""	13972	protein-coding gene	gene with protein product							Standard	NM_030876		Approved	hs6M1-21	uc011dlo.2	Q9UGF6		ENST00000377154.1:c.553C>T	6.37:g.29323420G>A						OR5V1_ENST00000543825.1_Silent_p.L185L	p.L185L			Q9UGF6	OR5V1_HUMAN			4	852	-			185					A2BDZ0|B0S860|Q5SQI9|Q6NTB5|Q8IVL3	Silent	SNP	ENST00000377154.1	37	c.553C>T	CCDS4657.1																																																																																				0.448	OR5V1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076398.3			69	110	0	0	0	1	0	69	110				
RGS1	5996	broad.mit.edu	37	1	192544928	192544928	+	Silent	SNP	C	C	A			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr1:192544928C>A	ENST00000367459.3	+	1	72	c.6C>A	c.(4-6)cgC>cgA	p.R2R	RGS1_ENST00000469578.2_Silent_p.R2R	NM_002922.3	NP_002913.3	Q08116	RGS1_HUMAN	regulator of G-protein signaling 1	2					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|immune response (GO:0006955)|positive regulation of GTPase activity (GO:0043547)|signal transduction (GO:0007165)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	calmodulin binding (GO:0005516)|GTPase activator activity (GO:0005096)			kidney(8)|large_intestine(1)|lung(13)	22		Breast(1374;0.188)				GCACCATGCGCGCAGCAGCCA	0.443																																						ENST00000367459.3																			0				kidney(8)|large_intestine(1)|lung(13)	22						c.(4-6)cgC>cgA		regulator of G-protein signaling 1							80.0	80.0	80.0					1																	192544928		2203	4300	6503	SO:0001819	synonymous_variant	5996				immune response|inhibition of adenylate cyclase activity by G-protein signaling pathway|negative regulation of signal transduction	cytoplasm|plasma membrane	calmodulin binding|GTPase activator activity|signal transducer activity	g.chr1:192544928C>A	AF493925	CCDS1375.2	1q31	2008-02-05	2007-08-14		ENSG00000090104	ENSG00000090104		"""Regulators of G-protein signaling"""	9991	protein-coding gene	gene with protein product		600323	"""regulator of G-protein signalling 1"""	IER1		8241276, 8602223	Standard	NM_002922		Approved	1R20, IR20, BL34	uc001gsi.1	Q08116	OTTHUMG00000035598	ENST00000367459.3:c.6C>A	1.37:g.192544928C>A						RGS1_ENST00000469578.2_Silent_p.R2R	p.R2R	NM_002922.3	NP_002913.3	Q08116	RGS1_HUMAN			1	72	+		Breast(1374;0.188)	2					B2RDM9|B4DZY0|Q07918|Q9H1W2	Silent	SNP	ENST00000367459.3	37	c.6C>A	CCDS1375.2																																																																																				0.443	RGS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086391.1	NM_002922		62	73	1	0	9.61844e-40	1	1.32797e-39	62	73				
PPARGC1A	10891	broad.mit.edu	37	4	23816147	23816147	+	Missense_Mutation	SNP	C	C	A			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr4:23816147C>A	ENST00000264867.2	-	8	1078	c.959G>T	c.(958-960)tGc>tTc	p.C320F	PPARGC1A_ENST00000509702.1_5'UTR	NM_013261.3	NP_037393.1	Q9UBK2	PRGC1_HUMAN	peroxisome proliferator-activated receptor gamma, coactivator 1 alpha	320	Interaction with PPARG.				androgen metabolic process (GO:0008209)|androgen receptor signaling pathway (GO:0030521)|brown fat cell differentiation (GO:0050873)|cellular glucose homeostasis (GO:0001678)|cellular respiration (GO:0045333)|cellular response to fatty acid (GO:0071398)|cellular response to hypoxia (GO:0071456)|cellular response to nitrite (GO:0071250)|cellular response to oxidative stress (GO:0034599)|cellular response to thyroid hormone stimulus (GO:0097067)|cellular response to tumor necrosis factor (GO:0071356)|circadian regulation of gene expression (GO:0032922)|digestion (GO:0007586)|fatty acid oxidation (GO:0019395)|flavone metabolic process (GO:0051552)|galactose metabolic process (GO:0006012)|gluconeogenesis (GO:0006094)|mitochondrion organization (GO:0007005)|mRNA processing (GO:0006397)|negative regulation of glycolytic process (GO:0045820)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of neuron death (GO:1901215)|negative regulation of receptor activity (GO:2000272)|positive regulation of ATP biosynthetic process (GO:2001171)|positive regulation of cellular respiration (GO:1901857)|positive regulation of energy homeostasis (GO:2000507)|positive regulation of fatty acid oxidation (GO:0046321)|positive regulation of gluconeogenesis (GO:0045722)|positive regulation of histone acetylation (GO:0035066)|positive regulation of mitochondrial DNA metabolic process (GO:1901860)|positive regulation of mitochondrion organization (GO:0010822)|positive regulation of muscle tissue development (GO:1901863)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein stabilization (GO:0050821)|regulation of circadian rhythm (GO:0042752)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of transcription, DNA-templated (GO:0006355)|respiratory electron transport chain (GO:0022904)|response to cold (GO:0009409)|response to epinephrine (GO:0071871)|response to leucine (GO:0043201)|response to muscle activity (GO:0014850)|response to norepinephrine (GO:0071873)|response to starvation (GO:0042594)|response to statin (GO:0036273)|RNA splicing (GO:0008380)|temperature homeostasis (GO:0001659)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytosol (GO:0005829)|DNA-directed RNA polymerase II, core complex (GO:0005665)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin DNA binding (GO:0031490)|DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nucleotide binding (GO:0000166)|RNA binding (GO:0003723)|RNA polymerase II transcription cofactor activity (GO:0001104)|sequence-specific DNA binding (GO:0043565)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|liver(1)|lung(24)|ovary(3)|skin(5)	51		Breast(46;0.0503)				CACAGTCTTGCAAGAGGACTT	0.488																																					Esophageal Squamous(29;694 744 13796 34866 44181)	ENST00000264867.2																			0				central_nervous_system(1)|endometrium(7)|kidney(3)|large_intestine(7)|liver(1)|lung(24)|ovary(3)|skin(5)	51						c.(958-960)tGc>tTc		peroxisome proliferator-activated receptor gamma, coactivator 1 alpha							108.0	112.0	110.0					4																	23816147		2203	4300	6503	SO:0001583	missense	10891				androgen receptor signaling pathway|brown fat cell differentiation|cellular glucose homeostasis|digestion|fatty acid oxidation|gluconeogenesis|mitochondrion organization|mRNA processing|neuron death|positive regulation of fatty acid oxidation|positive regulation of gluconeogenesis|positive regulation of histone acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|protein complex assembly|protein stabilization|response to muscle activity|response to starvation|RNA splicing|temperature homeostasis|transcription initiation from RNA polymerase II promoter	DNA-directed RNA polymerase II, core complex	androgen receptor binding|DNA binding|ligand-dependent nuclear receptor binding|ligand-dependent nuclear receptor transcription coactivator activity|nucleotide binding|RNA binding|RNA polymerase II transcription cofactor activity|transcription factor binding	g.chr4:23816147C>A	AF106698	CCDS3429.1	4p15.1	2013-02-12	2006-10-17	2004-02-04	ENSG00000109819	ENSG00000109819		"""RNA binding motif (RRM) containing"""	9237	protein-coding gene	gene with protein product		604517	"""peroxisome proliferative activated receptor, gamma, coactivator 1"", ""peroxisome proliferative activated receptor, gamma, coactivator 1, alpha"""	PPARGC1		10585775	Standard	NM_013261		Approved	PGC1, PGC1A	uc003gqs.3	Q9UBK2	OTTHUMG00000097747	ENST00000264867.2:c.959G>T	4.37:g.23816147C>A	ENSP00000264867:p.Cys320Phe					PPARGC1A_ENST00000509702.1_5'UTR	p.C320F	NM_013261.3	NP_037393.1	Q9UBK2	PRGC1_HUMAN			8	1078	-		Breast(46;0.0503)	320			Interaction with PPARG.		B7Z406|G8DM16|I3RTT5|I3RTT6|I3RTT7|I3RTT8|I3RTT9|Q3LIG1|Q4W5M7|Q9UN32	Missense_Mutation	SNP	ENST00000264867.2	37	c.959G>T	CCDS3429.1	.	.	.	.	.	.	.	.	.	.	C	12.26	1.885151	0.33255	.	.	ENSG00000109819	ENST00000264867	T	0.24151	1.87	6.02	6.02	0.97574	.	0.242897	0.49916	D	0.000124	T	0.49609	0.1567	L	0.55103	1.725	0.80722	D	1	D	0.71674	0.998	D	0.78314	0.991	T	0.19353	-1.0308	10	0.45353	T	0.12	-7.3586	20.6202	0.99473	0.0:1.0:0.0:0.0	.	320	Q9UBK2	PRGC1_HUMAN	F	320	ENSP00000264867:C320F	ENSP00000264867:C320F	C	-	2	0	PPARGC1A	23425245	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.260000	0.78391	2.876000	0.98609	0.644000	0.83932	TGC		0.488	PPARGC1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214976.1	NM_013261		84	136	1	0	6.71967e-41	1	9.3075e-41	84	136				
ZFHX3	463	broad.mit.edu	37	16	72992274	72992274	+	Missense_Mutation	SNP	C	C	A			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr16:72992274C>A	ENST00000268489.5	-	2	2443	c.1771G>T	c.(1771-1773)Gct>Tct	p.A591S	ZFHX3_ENST00000397992.5_Intron	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	591					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|muscle organ development (GO:0007517)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of myoblast differentiation (GO:0045663)|regulation of neuron differentiation (GO:0045664)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	enzyme binding (GO:0019899)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.A591S(1)		NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				CTTTCGTCAGCGAAGTCCAGC	0.542																																						ENST00000268489.5																			1	Substitution - Missense(1)	p.A591S(1)	prostate(1)	NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153						c.(1771-1773)Gct>Tct		zinc finger homeobox 3							106.0	101.0	103.0					16																	72992274		2198	4300	6498	SO:0001583	missense	463				muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr16:72992274C>A	D10250	CCDS10908.1, CCDS54035.1	16q22.3	2012-03-09	2007-08-09	2007-08-09	ENSG00000140836	ENSG00000140836		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	777	protein-coding gene	gene with protein product		104155	"""AT-binding transcription factor 1"""	ATBF1		1719379, 7592926	Standard	NM_006885		Approved	ZNF927	uc002fck.3	Q15911	OTTHUMG00000137599	ENST00000268489.5:c.1771G>T	16.37:g.72992274C>A	ENSP00000268489:p.Ala591Ser					ZFHX3_ENST00000397992.5_Intron	p.A591S	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN			2	2443	-		Ovarian(137;0.13)	591					D3DWS8|O15101|Q13719	Missense_Mutation	SNP	ENST00000268489.5	37	c.1771G>T	CCDS10908.1	.	.	.	.	.	.	.	.	.	.	C	6.139	0.393871	0.11638	.	.	ENSG00000140836	ENST00000268489	T	0.73897	-0.79	5.04	3.05	0.35203	.	0.522123	0.16411	N	0.215598	T	0.59998	0.2235	L	0.40543	1.245	0.80722	D	1	B	0.30114	0.269	B	0.22386	0.039	T	0.58211	-0.7676	10	0.42905	T	0.14	.	6.2956	0.21085	0.0:0.6155:0.0:0.3845	.	591	Q15911	ZFHX3_HUMAN	S	591	ENSP00000268489:A591S	ENSP00000268489:A591S	A	-	1	0	ZFHX3	71549775	0.718000	0.27976	0.996000	0.52242	0.919000	0.55068	0.167000	0.16602	1.259000	0.44117	0.650000	0.86243	GCT		0.542	ZFHX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269008.1	NM_006885		55	77	1	0	1.11015e-26	1	1.43116e-26	55	77				
SLC4A4	8671	broad.mit.edu	37	4	72363397	72363397	+	Silent	SNP	T	T	C			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr4:72363397T>C	ENST00000264485.5	+	16	2271	c.2154T>C	c.(2152-2154)taT>taC	p.Y718Y	SLC4A4_ENST00000425175.1_Silent_p.Y718Y|SLC4A4_ENST00000340595.3_Silent_p.Y674Y|SLC4A4_ENST00000351898.6_Silent_p.Y718Y	NM_001098484.2	NP_001091954.1	Q9Y6R1	S4A4_HUMAN	solute carrier family 4 (sodium bicarbonate cotransporter), member 4	718					bicarbonate transport (GO:0015701)|ion transport (GO:0006811)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)|transport (GO:0006810)	basolateral plasma membrane (GO:0016323)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	inorganic anion exchanger activity (GO:0005452)|sodium:bicarbonate symporter activity (GO:0008510)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	58			Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225)		Sodium bicarbonate(DB01390)	CTAGTCCTTATTTTCCAACCA	0.343																																						ENST00000340595.3																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(9)|liver(1)|lung(21)|ovary(3)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	58						c.(2020-2022)taT>taC		solute carrier family 4 (sodium bicarbonate cotransporter), member 4							99.0	102.0	101.0					4																	72363397		2203	4300	6503	SO:0001819	synonymous_variant	8671					basolateral plasma membrane|integral to plasma membrane	inorganic anion exchanger activity|protein binding|sodium:bicarbonate symporter activity	g.chr4:72363397T>C	AF007216	CCDS3549.1, CCDS43236.1, CCDS47071.1	4q13.3	2013-07-19	2013-07-19		ENSG00000080493	ENSG00000080493		"""Solute carriers"""	11030	protein-coding gene	gene with protein product		603345	"""solute carrier family 4, sodium bicarbonate cotransporter, member 4"""	SLC4A5		9235899, 9651366	Standard	NM_001098484		Approved	NBC1, HNBC1, NBC2, pNBC, hhNMC	uc010iic.3	Q9Y6R1	OTTHUMG00000129907	ENST00000264485.5:c.2154T>C	4.37:g.72363397T>C						SLC4A4_ENST00000425175.1_Silent_p.Y718Y|SLC4A4_ENST00000264485.5_Silent_p.Y718Y|SLC4A4_ENST00000351898.6_Silent_p.Y718Y	p.Y674Y	NM_003759.3	NP_003750.1	Q9Y6R1	S4A4_HUMAN	Lung(101;0.0739)|LUSC - Lung squamous cell carcinoma(112;0.225)		13	2218	+			718					C4B714|O15153|Q8NEJ2|Q9H262|Q9NRZ1|Q9UIC0|Q9UIC1|Q9UP50	Silent	SNP	ENST00000264485.5	37	c.2022T>C	CCDS43236.1																																																																																				0.343	SLC4A4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362090.1	NM_003759		83	77	0	0	0	1	0	83	77				
EGFLAM	133584	broad.mit.edu	37	5	38451493	38451493	+	Missense_Mutation	SNP	G	G	C			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr5:38451493G>C	ENST00000354891.3	+	20	2990	c.2644G>C	c.(2644-2646)Gac>Cac	p.D882H	EGFLAM_ENST00000506135.1_Missense_Mutation_p.D17H|EGFLAM_ENST00000397210.3_Missense_Mutation_p.D17H|EGFLAM_ENST00000397202.2_Missense_Mutation_p.D240H|EGFLAM_ENST00000514476.1_Missense_Mutation_p.D17H|EGFLAM_ENST00000336740.6_Missense_Mutation_p.D640H|EGFLAM_ENST00000322350.5_Missense_Mutation_p.D874H	NM_001205301.1	NP_001192230.1	Q63HQ2	EGFLA_HUMAN	EGF-like, fibronectin type III and laminin G domains	882	Laminin G-like 3. {ECO:0000255|PROSITE- ProRule:PRU00122}.				extracellular matrix organization (GO:0030198)|peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)|positive regulation of cell-substrate adhesion (GO:0010811)	basement membrane (GO:0005604)|cell junction (GO:0030054)|interstitial matrix (GO:0005614)|synapse (GO:0045202)	glycosaminoglycan binding (GO:0005539)			NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	85	all_lung(31;0.000385)					GTGGAGGGGAGACAGCCCCAT	0.517																																					Colon(62;485 1295 3347 17454)	ENST00000322350.5																			0				NS(1)|breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(10)|lung(43)|ovary(1)|pancreas(3)|prostate(1)|skin(8)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	85						c.(2620-2622)Gac>Cac		EGF-like, fibronectin type III and laminin G domains							202.0	176.0	185.0					5																	38451493		2203	4300	6503	SO:0001583	missense	133584					cell junction|proteinaceous extracellular matrix|synapse		g.chr5:38451493G>C	AK097549	CCDS3924.1, CCDS3925.1, CCDS47199.1, CCDS56363.1	5p13.2-p13.1	2014-04-03			ENSG00000164318	ENSG00000164318		"""Fibronectin type III domain containing"""	26810	protein-coding gene	gene with protein product	"""pikachurin"", ""agrin-like"""					18641643, 20078962, 22760553	Standard	NM_182801		Approved	FLJ39155, AGRINL, AGRNL, PIKA	uc003jlc.2	Q63HQ2	OTTHUMG00000131139	ENST00000354891.3:c.2644G>C	5.37:g.38451493G>C	ENSP00000346964:p.Asp882His					EGFLAM_ENST00000506135.1_Missense_Mutation_p.D17H|EGFLAM_ENST00000354891.3_Missense_Mutation_p.D882H|EGFLAM_ENST00000397202.2_Missense_Mutation_p.D240H|EGFLAM_ENST00000514476.1_Missense_Mutation_p.D17H|EGFLAM_ENST00000397210.3_Missense_Mutation_p.D17H|EGFLAM_ENST00000336740.6_Missense_Mutation_p.D640H	p.D874H	NM_152403.3	NP_689616.2	Q63HQ2	EGFLA_HUMAN			19	2966	+	all_lung(31;0.000385)		882			Laminin G-like 3.		A8K6D7|Q5U643|Q6P3V1|Q8N124|Q8N197|Q8N7Y0|Q8N8N5|Q8NAL2	Missense_Mutation	SNP	ENST00000354891.3	37	c.2620G>C	CCDS56363.1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.222337	0.79464	.	.	ENSG00000164318	ENST00000354891;ENST00000322350;ENST00000336740;ENST00000397202;ENST00000339580;ENST00000397210;ENST00000506135;ENST00000508131;ENST00000514476	T;T;T;T;T;T;T;T	0.79554	-1.28;-1.28;-1.28;-1.28;-0.18;-0.18;-1.28;-0.18	5.63	4.58	0.56647	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.099482	0.64402	D	0.000002	T	0.80460	0.4627	L	0.56280	1.765	0.52099	D	0.999943	B;P;B	0.36712	0.402;0.566;0.202	B;B;B	0.43990	0.2;0.438;0.205	T	0.80400	-0.1398	10	0.46703	T	0.11	-3.9392	13.3859	0.60795	0.1228:0.0:0.8772:0.0	.	640;882;874	Q63HQ2-4;Q63HQ2;Q63HQ2-2	.;EGFLA_HUMAN;.	H	882;874;640;240;640;17;17;17;17	ENSP00000346964:D882H;ENSP00000313084:D874H;ENSP00000337607:D640H;ENSP00000380385:D240H;ENSP00000380393:D17H;ENSP00000425579:D17H;ENSP00000427228:D17H;ENSP00000423228:D17H	ENSP00000313084:D874H	D	+	1	0	EGFLAM	38487250	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.345000	0.72995	2.649000	0.89929	0.650000	0.86243	GAC		0.517	EGFLAM-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000367323.1	NM_152403		71	283	0	0	0	1	0	71	283				
ARID1A	8289	broad.mit.edu	37	1	27106583	27106583	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr1:27106583C>T	ENST00000324856.7	+	20	6565	c.6194C>T	c.(6193-6195)gCc>gTc	p.A2065V	ARID1A_ENST00000374152.2_Missense_Mutation_p.A1682V|ARID1A_ENST00000540690.1_Missense_Mutation_p.A393V|ARID1A_ENST00000457599.2_Missense_Mutation_p.A1848V	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN	AT rich interactive domain 1A (SWI-like)	2065					androgen receptor signaling pathway (GO:0030521)|ATP-dependent chromatin remodeling (GO:0043044)|cardiac chamber development (GO:0003205)|chromatin remodeling (GO:0006338)|chromatin-mediated maintenance of transcription (GO:0048096)|forebrain development (GO:0030900)|glucocorticoid receptor signaling pathway (GO:0042921)|intracellular estrogen receptor signaling pathway (GO:0030520)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural tube closure (GO:0001843)|nucleosome disassembly (GO:0006337)|nucleosome mobilization (GO:0042766)|optic cup formation involved in camera-type eye development (GO:0003408)|placenta blood vessel development (GO:0060674)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nBAF complex (GO:0071565)|npBAF complex (GO:0071564)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|ligand-dependent nuclear receptor binding (GO:0016922)|transcription coactivator activity (GO:0003713)		ARID1A/MAST2_ENST00000361297(2)	NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)		GTTACACTCGCCAACATCTCG	0.562			"""Mis, N, F, S, D"""		"""clear cell ovarian carcinoma, RCC"""																																	ENST00000324856.7				Rec	yes		1	1p35.3	8289	"""Mis, N, F, S, D"""	AT rich interactive domain 1A (SWI-like)			E			"""clear cell ovarian carcinoma, RCC"""	ARID1A/MAST2_ENST00000361297(2)	0				NS(1)|autonomic_ganglia(1)|biliary_tract(1)|breast(13)|central_nervous_system(6)|cervix(2)|endometrium(56)|haematopoietic_and_lymphoid_tissue(8)|kidney(10)|large_intestine(41)|liver(31)|lung(34)|ovary(130)|pancreas(18)|prostate(8)|skin(9)|stomach(14)|upper_aerodigestive_tract(4)|urinary_tract(24)	411						c.(6193-6195)gCc>gTc		AT rich interactive domain 1A (SWI-like)							131.0	132.0	131.0					1																	27106583		2203	4300	6503	SO:0001583	missense	8289				androgen receptor signaling pathway|chromatin-mediated maintenance of transcription|estrogen receptor signaling pathway|glucocorticoid receptor signaling pathway|nervous system development|nucleosome mobilization|transcription, DNA-dependent	nBAF complex|npBAF complex|SWI/SNF complex	DNA binding|protein binding	g.chr1:27106583C>T	AB001895	CCDS285.1, CCDS44091.1	1p36.1-p35	2014-09-17	2006-11-08	2004-01-30	ENSG00000117713	ENSG00000117713		"""-"""	11110	protein-coding gene	gene with protein product		603024	"""SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily f, member 1"", ""AT rich interactive domain 1A (SWI- like)"""	C1orf4, SMARCF1		9630625, 9434167	Standard	NM_139135		Approved	B120, P270, C10rf4, BAF250, BAF250a	uc001bmv.1	O14497	OTTHUMG00000004004	ENST00000324856.7:c.6194C>T	1.37:g.27106583C>T	ENSP00000320485:p.Ala2065Val					ARID1A_ENST00000457599.2_Missense_Mutation_p.A1848V|ARID1A_ENST00000374152.2_Missense_Mutation_p.A1682V|ARID1A_ENST00000540690.1_Missense_Mutation_p.A393V	p.A2065V	NM_006015.4	NP_006006.3	O14497	ARI1A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|all cancers(4;2.61e-56)|Epithelial(14;7.53e-55)|OV - Ovarian serous cystadenocarcinoma(117;4.5e-30)|Colorectal(126;2.07e-09)|COAD - Colon adenocarcinoma(152;4.29e-07)|BRCA - Breast invasive adenocarcinoma(304;4.13e-05)|STAD - Stomach adenocarcinoma(196;0.000279)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|GBM - Glioblastoma multiforme(114;0.0132)|READ - Rectum adenocarcinoma(331;0.0469)|Lung(427;0.167)|LUSC - Lung squamous cell carcinoma(448;0.242)	20	6565	+		all_cancers(24;6.36e-27)|all_epithelial(13;5.93e-24)|Colorectal(325;3.46e-05)|all_lung(284;4.76e-05)|Lung NSC(340;5.83e-05)|Breast(348;9.7e-05)|Renal(390;0.0007)|Ovarian(437;0.00473)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)	2065					D3DPL1|Q53FK9|Q5T0W1|Q5T0W2|Q5T0W3|Q8NFD6|Q96T89|Q9BY33|Q9HBJ5|Q9UPZ1	Missense_Mutation	SNP	ENST00000324856.7	37	c.6194C>T	CCDS285.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.951183	0.73787	.	.	ENSG00000117713	ENST00000324856;ENST00000457599;ENST00000374152;ENST00000540690	T;T;T;T	0.38887	1.11;1.11;1.11;1.11	5.1	4.18	0.49190	.	0.104198	0.64402	D	0.000004	T	0.60599	0.2281	L	0.58428	1.81	0.51482	D	0.99992	D;D;P	0.71674	0.998;0.998;0.775	D;D;B	0.76071	0.957;0.987;0.306	T	0.65776	-0.6086	10	0.87932	D	0	-8.882	15.4604	0.75353	0.1397:0.8603:0.0:0.0	.	1682;2065;1848	O14497-3;O14497;O14497-2	.;ARI1A_HUMAN;.	V	2065;1848;1682;393	ENSP00000320485:A2065V;ENSP00000387636:A1848V;ENSP00000363267:A1682V;ENSP00000442437:A393V	ENSP00000320485:A2065V	A	+	2	0	ARID1A	26979170	1.000000	0.71417	0.995000	0.50966	0.983000	0.72400	7.464000	0.80887	1.504000	0.48704	0.591000	0.81541	GCC		0.562	ARID1A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000011437.2	NM_139135		98	170	0	0	0	1	0	98	170				
ACIN1	22985	broad.mit.edu	37	14	23530761	23530761	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr14:23530761C>T	ENST00000262710.1	-	17	3671	c.3344G>A	c.(3343-3345)cGg>cAg	p.R1115Q	ACIN1_ENST00000557515.1_Missense_Mutation_p.R356Q|ACIN1_ENST00000397341.3_Missense_Mutation_p.R357Q|ACIN1_ENST00000605057.1_Missense_Mutation_p.R1057Q|ACIN1_ENST00000357481.2_Missense_Mutation_p.R357Q|ACIN1_ENST00000457657.1_Missense_Mutation_p.R1075Q|ACIN1_ENST00000555053.1_Missense_Mutation_p.R1102Q|ACIN1_ENST00000338631.6_Missense_Mutation_p.R388Q	NM_001164814.1|NM_014977.3	NP_001158286.1|NP_055792	Q9UKV3	ACINU_HUMAN	apoptotic chromatin condensation inducer 1	1115	Pro-rich.				apoptotic chromosome condensation (GO:0030263)|apoptotic process (GO:0006915)|ATP catabolic process (GO:0006200)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|erythrocyte differentiation (GO:0030218)|mRNA processing (GO:0006397)|negative regulation of mRNA splicing, via spliceosome (GO:0048025)|positive regulation of apoptotic process (GO:0043065)|positive regulation of monocyte differentiation (GO:0045657)|RNA splicing (GO:0008380)	ASAP complex (GO:0061574)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATPase activity (GO:0016887)|enzyme binding (GO:0019899)|nucleic acid binding (GO:0003676)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(6)|kidney(4)|large_intestine(9)|lung(10)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	37	all_cancers(95;1.36e-05)			GBM - Glioblastoma multiforme(265;0.00816)		GTGCAGGGGCCGTGGTATTCC	0.647																																						ENST00000262710.1																			0				breast(1)|endometrium(6)|kidney(4)|large_intestine(9)|lung(10)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	37						c.(3343-3345)cGg>cAg		apoptotic chromatin condensation inducer 1							6.0	6.0	6.0					14																	23530761		2076	4053	6129	SO:0001583	missense	22985				apoptotic chromosome condensation|erythrocyte differentiation|positive regulation of monocyte differentiation	cytosol	ATPase activity|enzyme binding|nucleic acid binding|nucleotide binding	g.chr14:23530761C>T	AB014570	CCDS9587.1, CCDS53887.1, CCDS53888.1, CCDS53889.1, CCDS55905.1	14q11.2	2008-11-25	2004-03-31	2004-04-01	ENSG00000100813	ENSG00000100813			17066	protein-coding gene	gene with protein product	"""functional spliceosome-associated protein 152"""	604562	"""apoptotic chromatin condensation inducer in the nucleus"""	ACINUS		9734811, 10490026	Standard	NM_014977		Approved	KIAA0670, fSAP152	uc001wit.4	Q9UKV3	OTTHUMG00000028716	ENST00000262710.1:c.3344G>A	14.37:g.23530761C>T	ENSP00000262710:p.Arg1115Gln					ACIN1_ENST00000557515.1_Missense_Mutation_p.R356Q|ACIN1_ENST00000457657.1_Missense_Mutation_p.R1075Q|ACIN1_ENST00000357481.2_Missense_Mutation_p.R357Q|ACIN1_ENST00000338631.6_Missense_Mutation_p.R388Q|ACIN1_ENST00000397341.3_Missense_Mutation_p.R357Q|ACIN1_ENST00000555053.1_Missense_Mutation_p.R1102Q|ACIN1_ENST00000605057.1_Missense_Mutation_p.R1057Q	p.R1115Q	NM_001164814.1|NM_014977.3	NP_001158286.1|NP_055792.1	Q9UKV3	ACINU_HUMAN		GBM - Glioblastoma multiforme(265;0.00816)	17	3671	-	all_cancers(95;1.36e-05)		1115			Pro-rich.		B2RTT4|D3DS45|O75158|Q9UG91|Q9UKV1|Q9UKV2	Missense_Mutation	SNP	ENST00000262710.1	37	c.3344G>A	CCDS9587.1	.	.	.	.	.	.	.	.	.	.	C	23.6	4.437578	0.83885	.	.	ENSG00000100813	ENST00000557515;ENST00000338631;ENST00000357481;ENST00000262710;ENST00000457657;ENST00000397341;ENST00000555053	T;T;T	0.15139	2.45;2.46;2.45	4.93	4.93	0.64822	.	0.000000	0.36066	N	0.002820	T	0.19765	0.0475	N	0.08118	0	0.34993	D	0.755213	D;D;D;P;P	0.69078	0.997;0.994;0.994;0.94;0.868	D;D;D;B;B	0.69479	0.964;0.921;0.921;0.246;0.049	T	0.28713	-1.0035	10	0.27082	T	0.32	-9.97	13.5278	0.61605	0.0:1.0:0.0:0.0	.	1102;1115;1075;388;357	G3V3M7;Q9UKV3;E7EQT4;Q9UKV3-2;Q9UKV3-3	.;ACINU_HUMAN;.;.;.	Q	356;388;357;1115;1075;357;1102	ENSP00000262710:R1115Q;ENSP00000405677:R1075Q;ENSP00000451328:R1102Q	ENSP00000262710:R1115Q	R	-	2	0	ACIN1	22600601	0.870000	0.30015	0.998000	0.56505	0.992000	0.81027	1.449000	0.35123	2.559000	0.86315	0.551000	0.68910	CGG		0.647	ACIN1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000071707.3	NM_014977		8	23	0	0	0	1	0	8	23				
TMEM132E	124842	broad.mit.edu	37	17	32965040	32965040	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr17:32965040C>T	ENST00000321639.5	+	10	3072	c.2744C>T	c.(2743-2745)tCg>tTg	p.S915L		NM_207313.1	NP_997196.1	Q6IEE7	T132E_HUMAN	transmembrane protein 132E	915						integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(28)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	57				BRCA - Breast invasive adenocarcinoma(366;0.231)		CCCGCCAGCTCGCCCACCTCC	0.701																																						ENST00000321639.5																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(28)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	57						c.(2743-2745)tCg>tTg		transmembrane protein 132E							10.0	14.0	13.0					17																	32965040		2154	4207	6361	SO:0001583	missense	124842					integral to membrane		g.chr17:32965040C>T	BN000149	CCDS11283.1	17q12	2012-11-01			ENSG00000181291	ENSG00000181291			26991	protein-coding gene	gene with protein product							Standard	NM_207313		Approved		uc002hif.3	Q6IEE7	OTTHUMG00000132927	ENST00000321639.5:c.2744C>T	17.37:g.32965040C>T	ENSP00000316532:p.Ser915Leu						p.S915L	NM_207313.1	NP_997196.1	Q6IEE7	T132E_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.231)	10	3072	+			915					Q8WUF4|Q8WVA5	Missense_Mutation	SNP	ENST00000321639.5	37	c.2744C>T	CCDS11283.1	.	.	.	.	.	.	.	.	.	.	C	32	5.179985	0.94846	.	.	ENSG00000181291	ENST00000321639	T	0.10005	2.92	4.89	4.89	0.63831	.	0.000000	0.85682	D	0.000000	T	0.36496	0.0969	M	0.80982	2.52	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	T	0.21759	-1.0236	10	0.87932	D	0	-13.1852	17.2068	0.86920	0.0:1.0:0.0:0.0	.	915	Q6IEE7	T132E_HUMAN	L	915	ENSP00000316532:S915L	ENSP00000316532:S915L	S	+	2	0	TMEM132E	29989153	1.000000	0.71417	0.951000	0.38953	0.984000	0.73092	7.651000	0.83577	2.552000	0.86080	0.643000	0.83706	TCG		0.701	TMEM132E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256440.2	NM_207313		19	13	0	0	0	1	0	19	13				
SDCCAG8	10806	broad.mit.edu	37	1	243456392	243456392	+	Splice_Site	SNP	G	G	A			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr1:243456392G>A	ENST00000366541.3	+	6	664		c.e6-1		SDCCAG8_ENST00000343783.6_Splice_Site|SDCCAG8_ENST00000391846.1_Splice_Site|SDCCAG8_ENST00000355875.4_Intron	NM_006642.3	NP_006633.1	Q86SQ7	SDCG8_HUMAN	serologically defined colon cancer antigen 8						establishment of cell polarity (GO:0030010)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|tube formation (GO:0035148)	cell-cell junction (GO:0005911)|centriole (GO:0005814)|centrosome (GO:0005813)|cytosol (GO:0005829)		p.?(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_cancers(71;0.000545)|all_epithelial(71;0.000509)|all_lung(81;0.0821)|Ovarian(71;0.0919)|all_neural(11;0.101)|Breast(184;0.218)	all_cancers(173;0.00395)	all cancers(7;1.58e-07)|GBM - Glioblastoma multiforme(7;5.12e-06)|OV - Ovarian serous cystadenocarcinoma(106;0.00392)	COAD - Colon adenocarcinoma(196;0.145)		TTTTATTTTAGGGAAACATGC	0.343																																						ENST00000366541.3																			1	Unknown(1)	p.?(1)	lung(1)	breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(17)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						c.e6-1		serologically defined colon cancer antigen 8							86.0	89.0	88.0					1																	243456392		2203	4300	6503	SO:0001630	splice_region_variant	10806				establishment of cell polarity|G2/M transition of mitotic cell cycle|tube formation	cell-cell junction|centriole|cytosol	protein binding	g.chr1:243456392G>A	AF039690	CCDS31075.1	1q43	2011-08-02			ENSG00000054282	ENSG00000054282			10671	protein-coding gene	gene with protein product		613524				9610721, 20835237	Standard	NM_006642		Approved	NY-CO-8, CCCAP, SLSN7, NPHP10, BBS16	uc001hzw.3	Q86SQ7	OTTHUMG00000039996	ENST00000366541.3:c.547-1G>A	1.37:g.243456392G>A						SDCCAG8_ENST00000355875.4_Intron|SDCCAG8_ENST00000343783.6_Splice_Site|SDCCAG8_ENST00000391846.1_Splice_Site		NM_006642.3	NP_006633.1	Q86SQ7	SDCG8_HUMAN	all cancers(7;1.58e-07)|GBM - Glioblastoma multiforme(7;5.12e-06)|OV - Ovarian serous cystadenocarcinoma(106;0.00392)	COAD - Colon adenocarcinoma(196;0.145)	6	664	+	all_cancers(71;0.000545)|all_epithelial(71;0.000509)|all_lung(81;0.0821)|Ovarian(71;0.0919)|all_neural(11;0.101)|Breast(184;0.218)	all_cancers(173;0.00395)						O60527|Q3ZCR6|Q8N5F2|Q9P0F1	Splice_Site	SNP	ENST00000366541.3	37		CCDS31075.1	.	.	.	.	.	.	.	.	.	.	g	9.860	1.195948	0.22037	.	.	ENSG00000054282	ENST00000391846;ENST00000366541;ENST00000343783	.	.	.	5.1	5.1	0.69264	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.3671	0.66812	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SDCCAG8	241523015	1.000000	0.71417	1.000000	0.80357	0.216000	0.24613	4.758000	0.62220	2.525000	0.85131	0.563000	0.77884	.		0.343	SDCCAG8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096485.1	NM_006642	Intron	78	131	0	0	0	1	0	78	131				
TACR2	6865	broad.mit.edu	37	10	71174866	71174866	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr10:71174866G>A	ENST00000373306.4	-	2	965	c.422C>T	c.(421-423)cCt>cTt	p.P141L		NM_001057.2	NP_001048.2	P21452	NK2R_HUMAN	tachykinin receptor 2	141					excretion (GO:0007588)|intestine smooth muscle contraction (GO:0014827)|muscle contraction (GO:0006936)|negative regulation of luteinizing hormone secretion (GO:0033685)|operant conditioning (GO:0035106)|positive regulation of acetylcholine secretion, neurotransmission (GO:0014057)|positive regulation of uterine smooth muscle contraction (GO:0070474)|positive regulation of vascular permeability (GO:0043117)|prolactin secretion (GO:0070459)|tachykinin receptor signaling pathway (GO:0007217)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	substance K receptor activity (GO:0016497)|tachykinin receptor activity (GO:0004995)			endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	11						TGAAAGCCGAGGCTGGAAGGG	0.637																																						ENST00000373306.4																			0				endometrium(2)|kidney(1)|large_intestine(1)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	11						c.(421-423)cCt>cTt		tachykinin receptor 2	Clonidine(DB00575)|Octreotide(DB00104)						94.0	72.0	79.0					10																	71174866		2203	4300	6503	SO:0001583	missense	6865				excretion|muscle contraction	integral to plasma membrane	tachykinin receptor activity	g.chr10:71174866G>A		CCDS7293.1	10q22.1	2012-09-20			ENSG00000075073	ENSG00000075073		"""GPCR / Class A : Tachykinin receptors"""	11527	protein-coding gene	gene with protein product		162321		TAC2R, NKNAR			Standard	NM_001057		Approved	SKR, NK2R	uc001jpn.2	P21452	OTTHUMG00000018377	ENST00000373306.4:c.422C>T	10.37:g.71174866G>A	ENSP00000362403:p.Pro141Leu						p.P141L	NM_001057.2	NP_001048.2	P21452	NK2R_HUMAN			2	965	-			141					A8K7I1|Q4QRI5|Q8NGQ8|Q9UDE6|Q9UDE7	Missense_Mutation	SNP	ENST00000373306.4	37	c.422C>T	CCDS7293.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.081798	0.76528	.	.	ENSG00000075073	ENST00000373306	T	0.71222	-0.55	5.21	5.21	0.72293	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	D	0.84325	0.5447	M	0.80847	2.515	0.80722	D	1	D	0.76494	0.999	D	0.81914	0.995	D	0.86324	0.1694	10	0.87932	D	0	.	15.4941	0.75634	0.0:0.1387:0.8612:0.0	.	141	P21452	NK2R_HUMAN	L	141	ENSP00000362403:P141L	ENSP00000362403:P141L	P	-	2	0	TACR2	70844872	1.000000	0.71417	0.995000	0.50966	0.548000	0.35241	5.334000	0.65923	2.612000	0.88384	0.561000	0.74099	CCT		0.637	TACR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048411.1			59	78	0	0	0	1	0	59	78				
DLK1	8788	broad.mit.edu	37	14	101200827	101200827	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr14:101200827C>T	ENST00000341267.4	+	5	988	c.746C>T	c.(745-747)gCg>gTg	p.A249V	DLK1_ENST00000331224.6_Intron	NM_003836.5	NP_003827	P80370	DLK1_HUMAN	delta-like 1 homolog (Drosophila)	249					cell differentiation (GO:0030154)|embryonic skeletal system development (GO:0048706)|multicellular organismal development (GO:0007275)|negative regulation of Notch signaling pathway (GO:0045746)|Notch signaling pathway (GO:0007219)|post-embryonic development (GO:0009791)|regulation of gene expression (GO:0010468)	external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)		p.A249V(1)		breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(16)|ovary(2)|prostate(1)|skin(1)	29		Melanoma(154;0.155)				AAGAAGCGCGCGCTGAGCCCC	0.682																																						ENST00000341267.4																			1	Substitution - Missense(1)	p.A249V(1)	haematopoietic_and_lymphoid_tissue(1)	breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(16)|ovary(2)|prostate(1)|skin(1)	29						c.(745-747)gCg>gTg		delta-like 1 homolog (Drosophila)																																				SO:0001583	missense	8788				multicellular organismal development	extracellular space|integral to membrane|soluble fraction		g.chr14:101200827C>T	U15979	CCDS9963.1	14q32	2011-12-05	2001-12-03			ENSG00000185559			2907	protein-coding gene	gene with protein product		176290	"""delta-like homolog (Drosophila)"""			8095043, 7925474	Standard	NM_003836		Approved	FA1, pG2, Pref-1, ZOG, Delta1	uc001yhs.4	P80370		ENST00000341267.4:c.746C>T	14.37:g.101200827C>T	ENSP00000340292:p.Ala249Val					DLK1_ENST00000331224.6_Intron	p.A249V	NM_003836.5	NP_003827.3	P80370	DLK1_HUMAN			5	988	+		Melanoma(154;0.155)	249					P15803|Q96DW5	Missense_Mutation	SNP	ENST00000341267.4	37	c.746C>T	CCDS9963.1	.	.	.	.	.	.	.	.	.	.	C	6.133	0.392819	0.11638	.	.	ENSG00000185559	ENST00000341267	T	0.66460	-0.21	4.16	-1.84	0.07809	.	0.891322	0.09748	N	0.761040	T	0.39784	0.1091	N	0.12182	0.205	0.09310	N	1	B	0.11235	0.004	B	0.04013	0.001	T	0.17107	-1.0380	9	.	.	.	.	4.3444	0.11126	0.0:0.3449:0.3385:0.3166	.	249	P80370	DLK1_HUMAN	V	249	ENSP00000340292:A249V	.	A	+	2	0	DLK1	100270580	0.000000	0.05858	0.004000	0.12327	0.437000	0.31866	-1.865000	0.01649	-0.248000	0.09583	0.491000	0.48974	GCG		0.682	DLK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414389.1			51	128	0	0	0	1	0	51	128				
LILRP2	79166	broad.mit.edu	37	19	55221850	55221850	+	RNA	SNP	G	G	A			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr19:55221850G>A	ENST00000413439.1	+	0	1415									leukocyte immunoglobulin-like receptor pseudogene 2																		AGCTCAGAACGAGGTGGGGCA	0.637																																					Ovarian(107;788 1543 20399 31552 46707)	ENST00000413439.1																			0																																																			79166							g.chr19:55221850G>A	AF072100		19q13.4	2010-02-17			ENSG00000240258	ENSG00000170858		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"""	15497	pseudogene	pseudogene						10941842	Standard	NR_003061		Approved	ILT10, CD85m	uc002qgs.1		OTTHUMG00000065886		19.37:g.55221850G>A														0	1415	+									RNA	SNP	ENST00000413439.1	37																																																																																						0.637	LILRP2-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000141240.2	NM_024317		8	144	0	0	0	1	0	8	144				
TRUB2	26995	broad.mit.edu	37	9	131073208	131073208	+	Missense_Mutation	SNP	C	C	A			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr9:131073208C>A	ENST00000372890.4	-	7	961	c.628G>T	c.(628-630)Ggc>Tgc	p.G210C	TRUB2_ENST00000460320.1_5'UTR|TRUB2_ENST00000546104.1_Missense_Mutation_p.G154C	NM_015679.1	NP_056494.1	O95900	TRUB2_HUMAN	TruB pseudouridine (psi) synthase family member 2	210					pseudouridine synthesis (GO:0001522)|tRNA processing (GO:0008033)		poly(A) RNA binding (GO:0044822)|pseudouridine synthase activity (GO:0009982)			kidney(2)|large_intestine(2)|lung(3)|ovary(1)	8						CATCGGATGCCAGTTATCAGC	0.562																																						ENST00000372890.4																			0				kidney(2)|large_intestine(2)|lung(3)|ovary(1)	8						c.(628-630)Ggc>Tgc		TruB pseudouridine (psi) synthase family member 2							151.0	142.0	145.0					9																	131073208		2203	4300	6503	SO:0001583	missense	26995				pseudouridine synthesis|tRNA processing		pseudouridine synthase activity|RNA binding	g.chr9:131073208C>A	AK001956	CCDS6897.1	9q34.11	2014-01-28	2013-09-02		ENSG00000167112	ENSG00000167112			17170	protein-coding gene	gene with protein product		610727	"""TruB pseudouridine (psi) synthase homolog 2 (E. coli)"""			12736709	Standard	NM_015679		Approved	CLONE24922	uc004buq.1	O95900	OTTHUMG00000020741	ENST00000372890.4:c.628G>T	9.37:g.131073208C>A	ENSP00000361982:p.Gly210Cys					TRUB2_ENST00000546104.1_Missense_Mutation_p.G154C|TRUB2_ENST00000460320.1_5'UTR	p.G210C	NM_015679.1	NP_056494.1	O95900	TRUB2_HUMAN			7	961	-			210					B7Z7G5	Missense_Mutation	SNP	ENST00000372890.4	37	c.628G>T	CCDS6897.1	.	.	.	.	.	.	.	.	.	.	C	22.1	4.244136	0.79912	.	.	ENSG00000167112	ENST00000372890;ENST00000546104	T;T	0.14893	2.47;2.47	5.48	4.55	0.56014	Pseudouridine synthase, catalytic domain (1);	0.100213	0.64402	D	0.000002	T	0.43366	0.1244	M	0.83603	2.65	0.58432	D	0.999997	D	0.89917	1.0	D	0.72625	0.978	T	0.45454	-0.9260	10	0.66056	D	0.02	-16.7204	12.2085	0.54365	0.0:0.9127:0.0:0.0873	.	210	O95900	TRUB2_HUMAN	C	210;154	ENSP00000361982:G210C;ENSP00000438084:G154C	ENSP00000361982:G210C	G	-	1	0	TRUB2	130113029	0.972000	0.33761	0.833000	0.33012	0.943000	0.58893	3.115000	0.50391	1.211000	0.43351	0.561000	0.74099	GGC		0.562	TRUB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054419.1	NM_015679		25	290	1	0	3.6726e-16	1	4.37848e-16	25	290				
CRB1	23418	broad.mit.edu	37	1	197297664	197297664	+	Silent	SNP	T	T	C			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr1:197297664T>C	ENST00000367400.3	+	2	318	c.183T>C	c.(181-183)aaT>aaC	p.N61N	CRB1_ENST00000535699.1_5'UTR|CRB1_ENST00000367399.2_Silent_p.N61N|CRB1_ENST00000538660.1_Silent_p.N61N	NM_201253.2	NP_957705.1	P82279	CRUM1_HUMAN	crumbs family member 1, photoreceptor morphogenesis associated	61	EGF-like 1. {ECO:0000255|PROSITE- ProRule:PRU00076}.				cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|eye photoreceptor cell development (GO:0042462)|plasma membrane organization (GO:0007009)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						ACACAGCCAATAATTTGGACA	0.408																																						ENST00000367400.3																			0				NS(1)|breast(4)|central_nervous_system(2)|cervix(3)|endometrium(13)|kidney(4)|large_intestine(21)|lung(58)|ovary(7)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(2)	132						c.(181-183)aaT>aaC		crumbs homolog 1 (Drosophila)							71.0	72.0	72.0					1																	197297664		2203	4300	6503	SO:0001819	synonymous_variant	23418				cell-cell signaling|establishment or maintenance of cell polarity	apical plasma membrane|extracellular region|integral to membrane	calcium ion binding|protein binding	g.chr1:197297664T>C		CCDS1390.1, CCDS53454.1, CCDS58052.1, CCDS58053.1	1q31-q32.1	2014-02-06	2014-02-06		ENSG00000134376	ENSG00000134376			2343	protein-coding gene	gene with protein product		604210	"""crumbs (Drosophila) homolog 1"", ""crumbs homolog 1 (Drosophila)"""	RP12		10373321, 10508521	Standard	NM_201253		Approved	LCA8	uc001gtz.3	P82279	OTTHUMG00000035663	ENST00000367400.3:c.183T>C	1.37:g.197297664T>C						CRB1_ENST00000538660.1_Silent_p.N61N|CRB1_ENST00000535699.1_5'UTR|CRB1_ENST00000367399.2_Silent_p.N61N	p.N61N	NM_201253.2	NP_957705.1	P82279	CRUM1_HUMAN			2	318	+			61			EGF-like 1.		A2A308|B7Z5T2|B9EG71|Q5K3A6|Q5TC28|Q5VUT1|Q6N027|Q8WWY0|Q8WWY1	Silent	SNP	ENST00000367400.3	37	c.183T>C	CCDS1390.1																																																																																				0.408	CRB1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086565.2	NM_201253		51	77	0	0	0	1	0	51	77				
EP400	57634	broad.mit.edu	37	12	132529259	132529259	+	Splice_Site	SNP	C	C	T			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr12:132529259C>T	ENST00000333577.4	+	37	6846	c.6737C>T	c.(6736-6738)cCg>cTg	p.P2246L	EP400_ENST00000389562.2_Splice_Site_p.P2209L|EP400_ENST00000332482.4_Splice_Site_p.P2173L|EP400_ENST00000389561.2_Splice_Site_p.P2210L|EP400_ENST00000330386.6_Splice_Site_p.P2129L			Q96L91	EP400_HUMAN	E1A binding protein p400	2246					chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)	NuA4 histone acetyltransferase complex (GO:0035267)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|Swr1 complex (GO:0000812)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)			NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		GAAGTCATGCCGGTGAGTGCT	0.547																																						ENST00000333577.4																			0				NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161						c.e37+1		E1A binding protein p400							151.0	129.0	137.0					12																	132529259		2203	4300	6503	SO:0001630	splice_region_variant	57634				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity	g.chr12:132529259C>T	U80743	CCDS31929.1, CCDS31929.2	12q24.33	2008-02-01	2002-02-05	2002-02-08		ENSG00000183495			11958	protein-coding gene	gene with protein product		606265	"""trinucleotide repeat containing 12"""	TNRC12		9225980, 11509179	Standard	NM_015409		Approved	CAGH32, KIAA1498, P400, KIAA1818, DKFZP434I225	uc001ujn.3	Q96L91		ENST00000333577.4:c.6738+1C>T	12.37:g.132529259C>T						EP400_ENST00000389561.2_Splice_Site_p.P2210_splice|EP400_ENST00000389562.2_Splice_Site_p.P2209_splice|EP400_ENST00000330386.6_Splice_Site_p.P2129_splice|EP400_ENST00000332482.4_Splice_Site_p.P2173_splice	p.P2246_splice			Q96L91	EP400_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)	37	6846	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)	2246					O15411|Q6P2F5|Q8N8Q7|Q8NE05|Q96JK7|Q9P230	Splice_Site	SNP	ENST00000333577.4	37	c.6738_splice		.	.	.	.	.	.	.	.	.	.	C	12.53	1.967030	0.34754	.	.	ENSG00000183495	ENST00000333577;ENST00000389561;ENST00000389562;ENST00000332482;ENST00000330386;ENST00000541296	D;D;D;D;D	0.92752	-3.08;-3.07;-3.1;-3.09;-3.06	5.68	5.68	0.88126	.	0.000000	0.85682	D	0.000000	D	0.96390	0.8822	M	0.79805	2.47	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	D	0.96459	0.9340	10	0.87932	D	0	.	19.8043	0.96521	0.0:1.0:0.0:0.0	.	2210;2129;2209	Q96L91-2;Q96L91-4;Q96L91-5	.;.;.	L	2246;2210;2209;2173;2129;2210	ENSP00000333602:P2246L;ENSP00000374212:P2210L;ENSP00000374213:P2209L;ENSP00000331737:P2173L;ENSP00000330620:P2129L	ENSP00000330620:P2129L	P	+	2	0	EP400	131095212	1.000000	0.71417	0.998000	0.56505	0.053000	0.15095	7.129000	0.77225	2.683000	0.91414	0.655000	0.94253	CCG		0.547	EP400-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015409	Missense_Mutation	73	121	0	0	0	1	0	73	121				
RNASE7	84659	broad.mit.edu	37	14	21511429	21511429	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr14:21511429G>A	ENST00000298690.4	+	2	535	c.278G>A	c.(277-279)gGc>gAc	p.G93D	NDRG2_ENST00000403829.3_Intron	NM_032572.3	NP_115961	Q9H1E1	RNAS7_HUMAN	ribonuclease, RNase A family, 7	93					antibacterial humoral response (GO:0019731)|defense response to Gram-negative bacterium (GO:0050829)|defense response to Gram-positive bacterium (GO:0050830)|innate immune response (GO:0045087)|membrane disruption in other organism (GO:0051673)|response to bacterium (GO:0009617)|RNA phosphodiester bond hydrolysis (GO:0090501)	extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	endonuclease activity (GO:0004519)|lipopolysaccharide binding (GO:0001530)|nucleic acid binding (GO:0003676)|peptidoglycan binding (GO:0042834)|ribonuclease activity (GO:0004540)			endometrium(2)|large_intestine(2)|lung(1)|ovary(1)	6	all_cancers(95;0.000759)		OV - Ovarian serous cystadenocarcinoma(11;3.42e-11)|Epithelial(56;5.57e-09)|all cancers(55;2.36e-08)	GBM - Glioblastoma multiforme(265;0.0191)		TGCAAGAATGGCGATAAAAAC	0.557																																						ENST00000298690.4																			0				endometrium(2)|large_intestine(2)|lung(1)|ovary(1)	6						c.(277-279)gGc>gAc		ribonuclease, RNase A family, 7							98.0	97.0	97.0					14																	21511429		2203	4300	6503	SO:0001583	missense	84659				defense response to bacterium|innate immune response	extracellular region	nucleic acid binding|pancreatic ribonuclease activity	g.chr14:21511429G>A	AJ131212	CCDS41914.1	14q11.1	2013-02-15			ENSG00000165799	ENSG00000165799		"""Ribonucleases, RNase A"""	19278	protein-coding gene	gene with protein product		612484				12244054, 12527768	Standard	NM_032572		Approved		uc001vzk.4	Q9H1E1	OTTHUMG00000171358	ENST00000298690.4:c.278G>A	14.37:g.21511429G>A	ENSP00000298690:p.Gly93Asp					NDRG2_ENST00000403829.3_Intron	p.G93D	NM_032572.3	NP_115961.2	Q9H1E1	RNAS7_HUMAN	OV - Ovarian serous cystadenocarcinoma(11;3.42e-11)|Epithelial(56;5.57e-09)|all cancers(55;2.36e-08)	GBM - Glioblastoma multiforme(265;0.0191)	2	535	+	all_cancers(95;0.000759)		93					P80927|P83685|Q546N3	Missense_Mutation	SNP	ENST00000298690.4	37	c.278G>A	CCDS41914.1	.	.	.	.	.	.	.	.	.	.	G	15.23	2.772200	0.49680	.	.	ENSG00000165799	ENST00000298690	T	0.16196	2.36	5.09	-0.162	0.13367	Ribonuclease A, domain (4);	1.715750	0.03553	U	0.225734	T	0.46405	0.1391	M	0.93898	3.47	0.09310	N	1	D	0.58268	0.982	P	0.57057	0.812	T	0.31420	-0.9944	10	0.72032	D	0.01	-2.2107	7.7531	0.28909	0.5021:0.0:0.4979:0.0	.	93	Q9H1E1	RNAS7_HUMAN	D	93	ENSP00000298690:G93D	ENSP00000298690:G93D	G	+	2	0	RNASE7	20581269	0.000000	0.05858	0.000000	0.03702	0.055000	0.15305	-0.072000	0.11486	-0.202000	0.10268	-0.150000	0.13652	GGC		0.557	RNASE7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313936.1	NM_032572		81	150	0	0	0	1	0	81	150				
C1QA	712	broad.mit.edu	37	1	22965856	22965856	+	Missense_Mutation	SNP	G	G	T			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr1:22965856G>T	ENST00000374642.3	+	3	898	c.694G>T	c.(694-696)Gcc>Tcc	p.A232S	C1QA_ENST00000402322.1_Missense_Mutation_p.A232S	NM_015991.2	NP_057075.1	P02745	C1QA_HUMAN	complement component 1, q subcomponent, A chain	232	C1q. {ECO:0000255|PROSITE- ProRule:PRU00368}.				cell-cell signaling (GO:0007267)|complement activation (GO:0006956)|complement activation, classical pathway (GO:0006958)|innate immune response (GO:0045087)	collagen trimer (GO:0005581)|complement component C1 complex (GO:0005602)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)				autonomic_ganglia(1)|liver(1)|lung(3)|skin(1)	6		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;6.41e-27)|Colorectal(126;1.52e-07)|COAD - Colon adenocarcinoma(152;1.12e-05)|GBM - Glioblastoma multiforme(114;1.63e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000541)|KIRC - Kidney renal clear cell carcinoma(1967;0.00269)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.197)	Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	GGGCTCTGAGGCCGACAGCGT	0.607																																						ENST00000374642.3																			0				autonomic_ganglia(1)|liver(1)|lung(3)|skin(1)	6						c.(694-696)Gcc>Tcc		complement component 1, q subcomponent, A chain	Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)						41.0	45.0	44.0					1																	22965856		2203	4300	6503	SO:0001583	missense	712				cell-cell signaling|complement activation, classical pathway|innate immune response	collagen|complement component C1 complex		g.chr1:22965856G>T	AF135157	CCDS226.1	1p36.3-p34.1	2014-09-17	2006-02-09		ENSG00000173372	ENSG00000173372		"""Complement system"""	1241	protein-coding gene	gene with protein product		120550	"""complement component 1, q subcomponent, alpha polypeptide"""			1537612	Standard	NM_015991		Approved		uc001bfy.3	P02745	OTTHUMG00000002893	ENST00000374642.3:c.694G>T	1.37:g.22965856G>T	ENSP00000363773:p.Ala232Ser					C1QA_ENST00000402322.1_Missense_Mutation_p.A232S	p.A232S	NM_015991.2	NP_057075.1	P02745	C1QA_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;6.41e-27)|Colorectal(126;1.52e-07)|COAD - Colon adenocarcinoma(152;1.12e-05)|GBM - Glioblastoma multiforme(114;1.63e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000541)|KIRC - Kidney renal clear cell carcinoma(1967;0.00269)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.197)	3	898	+		Colorectal(325;3.46e-05)|Lung NSC(340;6.55e-05)|all_lung(284;9.87e-05)|Renal(390;0.000219)|Breast(348;0.00262)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)	232			C1q.		B2R4X2|Q5T963	Missense_Mutation	SNP	ENST00000374642.3	37	c.694G>T	CCDS226.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.57|16.57	3.161351|3.161351	0.57368|0.57368	.|.	.|.	ENSG00000173372|ENSG00000173372	ENST00000374642;ENST00000402322|ENST00000339353	T;T|.	0.74737|.	-0.87;-0.87|.	5.55|5.55	5.55|5.55	0.83447|0.83447	Tumour necrosis factor-like (2);Complement C1q protein (4);|.	.|0.361933	.|0.20350	.|N	.|0.094065	T|T	0.57888|0.57888	0.2084|0.2084	L|L	0.49126|0.49126	1.545|1.545	0.29495|0.29495	N|N	0.855317|0.855317	B|.	0.22683|.	0.073|.	B|.	0.37091|.	0.241|.	T|T	0.59010|0.59010	-0.7534|-0.7534	8|7	.|0.87932	.|D	.|0	-4.3863|-4.3863	18.0681|18.0681	0.89397|0.89397	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	232|.	P02745|.	C1QA_HUMAN|.	S|S	232|226	ENSP00000363773:A232S;ENSP00000385564:A232S|.	.|ENSP00000341271:R226S	A|R	+|+	1|3	0|2	C1QA|C1QA	22838443|22838443	0.996000|0.996000	0.38824|0.38824	0.822000|0.822000	0.32727|0.32727	0.216000|0.216000	0.24613|0.24613	3.937000|3.937000	0.56575|0.56575	2.607000|2.607000	0.88179|0.88179	0.561000|0.561000	0.74099|0.74099	GCC|AGG		0.607	C1QA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008087.2	NM_015991		46	90	1	0	1.41504e-22	1	1.77606e-22	46	90				
CAMSAP3	57662	broad.mit.edu	37	19	7671400	7671400	+	Silent	SNP	G	G	C			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr19:7671400G>C	ENST00000160298.4	+	4	665	c.564G>C	c.(562-564)gcG>gcC	p.A188A	CAMSAP3_ENST00000446248.2_Silent_p.A188A	NM_020902.1	NP_065953.1	Q9P1Y5	CAMP3_HUMAN	calmodulin regulated spectrin-associated protein family, member 3	188	CH.				epithelial cell-cell adhesion (GO:0090136)|microtubule anchoring (GO:0034453)|microtubule cytoskeleton organization (GO:0000226)|negative regulation of phosphatase activity (GO:0010923)|regulation of microtubule cytoskeleton organization (GO:0070507)|regulation of organelle organization (GO:0033043)|zonula adherens maintenance (GO:0045218)	cytoplasm (GO:0005737)|microtubule minus-end (GO:0036449)|zonula adherens (GO:0005915)	microtubule minus-end binding (GO:0051011)			cervix(1)|endometrium(7)|kidney(3)|lung(6)|urinary_tract(2)	19						AGCAGGAAGCGGCCCAGCGAG	0.711																																						ENST00000446248.2																			0				cervix(1)|endometrium(7)|kidney(3)|lung(6)|urinary_tract(2)	19						c.(562-564)gcG>gcC		calmodulin regulated spectrin-associated protein family, member 3							6.0	10.0	9.0					19																	7671400		1857	4015	5872	SO:0001819	synonymous_variant	57662				epithelial cell-cell adhesion|microtubule anchoring|regulation of microtubule cytoskeleton organization|zonula adherens maintenance	cytoplasm|microtubule|zonula adherens	microtubule minus-end binding	g.chr19:7671400G>C	AB040976	CCDS42489.1, CCDS45947.1	19p13.3-p13.2	2014-06-12	2011-08-18	2011-08-18		ENSG00000076826			29307	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 80"""	612685	"""KIAA1543"""	KIAA1543		11318610, 10819331, 19041755, 19508979	Standard	NM_001080429		Approved	Nezha, PPP1R80	uc002mgu.4	Q9P1Y5		ENST00000160298.4:c.564G>C	19.37:g.7671400G>C						CAMSAP3_ENST00000160298.4_Silent_p.A188A	p.A188A	NM_001080429.2	NP_001073898.1	Q9P1Y5	CAMP3_HUMAN			4	665	+			188			CH.		Q8NDF1	Silent	SNP	ENST00000160298.4	37	c.564G>C	CCDS42489.1																																																																																				0.711	CAMSAP3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000459300.1	XM_048362		8	11	0	0	0	1	0	8	11				
PPP1R9A	55607	broad.mit.edu	37	7	94897989	94897989	+	Silent	SNP	C	C	A			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr7:94897989C>A	ENST00000433881.1	+	12	3259	c.2727C>A	c.(2725-2727)tcC>tcA	p.S909S	PPP1R9A_ENST00000289495.5_Silent_p.S909S|PPP1R9A_ENST00000340694.4_Silent_p.S909S|PPP1R9A_ENST00000433360.1_Silent_p.S931S|PPP1R9A_ENST00000456331.2_Silent_p.S909S|PPP1R9A_ENST00000424654.1_Silent_p.S909S			Q9ULJ8	NEB1_HUMAN	protein phosphatase 1, regulatory subunit 9A	909	Interacts with TGN38. {ECO:0000250}.				actin filament organization (GO:0007015)|calcium-mediated signaling (GO:0019722)|neuron projection development (GO:0031175)	cell junction (GO:0030054)|cortical actin cytoskeleton (GO:0030864)|dendritic spine (GO:0043197)|filopodium (GO:0030175)|growth cone (GO:0030426)|synapse (GO:0045202)				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(11)|liver(2)|lung(22)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(8)|urinary_tract(5)	71	all_cancers(62;9.12e-11)|all_epithelial(64;4.34e-09)		STAD - Stomach adenocarcinoma(171;0.0031)			GTGTTAGTTCCACAGATGGGG	0.468										HNSCC(28;0.073)																												ENST00000289495.5																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(11)|liver(2)|lung(22)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(8)|urinary_tract(5)	71						c.(2725-2727)tcC>tcA		protein phosphatase 1, regulatory subunit 9A							116.0	96.0	103.0					7																	94897989		2203	4300	6503	SO:0001819	synonymous_variant	55607					cell junction|synapse|synaptosome	actin binding	g.chr7:94897989C>A	AB033048	CCDS34683.1, CCDS55127.1, CCDS55128.1	7q21.3	2013-01-10	2011-10-04		ENSG00000158528	ENSG00000158528		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Sterile alpha motif (SAM) domain containing"""	14946	protein-coding gene	gene with protein product		602468	"""protein phosphatase 1, regulatory (inhibitor) subunit 9A"""			10574462	Standard	NM_001166160		Approved	Neurabin-I, KIAA1222, FLJ20068	uc010lfj.3	Q9ULJ8	OTTHUMG00000155566	ENST00000433881.1:c.2727C>A	7.37:g.94897989C>A		HNSCC(28;0.073)				PPP1R9A_ENST00000424654.1_Silent_p.S909S|PPP1R9A_ENST00000340694.4_Silent_p.S909S|PPP1R9A_ENST00000433360.1_Silent_p.S931S|PPP1R9A_ENST00000456331.2_Silent_p.S909S|PPP1R9A_ENST00000433881.1_Silent_p.S909S	p.S909S	NM_001166161.1	NP_001159633.1	Q9ULJ8	NEB1_HUMAN	STAD - Stomach adenocarcinoma(171;0.0031)		11	2943	+	all_cancers(62;9.12e-11)|all_epithelial(64;4.34e-09)		909			Interacts with TGN38 (By similarity).		A1L494|B2RWQ1|E9PCA0|E9PCK6|E9PDX1|F8W7J9|O76059|Q9NXT2	Silent	SNP	ENST00000433881.1	37	c.2727C>A	CCDS34683.1																																																																																				0.468	PPP1R9A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340662.1	NM_001166160		19	98	1	0	7.45023e-12	1	8.3039e-12	19	98				
MUC16	94025	broad.mit.edu	37	19	9068558	9068558	+	Missense_Mutation	SNP	A	A	T	rs528420907		TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr19:9068558A>T	ENST00000397910.4	-	3	19091	c.18888T>A	c.(18886-18888)caT>caA	p.H6296Q		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	6298	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TTATAGAAGGATGCATTGTGT	0.443																																						ENST00000397910.4																			0				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(18886-18888)caT>caA		mucin 16, cell surface associated							227.0	213.0	217.0					19																	9068558		2020	4192	6212	SO:0001583	missense	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9068558A>T	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.18888T>A	19.37:g.9068558A>T	ENSP00000381008:p.His6296Gln						p.H6296Q	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			3	19091	-			6298			Thr-rich.		Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	c.18888T>A	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	a	2.524	-0.310141	0.05458	.	.	ENSG00000181143	ENST00000397910	T	0.25912	1.77	2.14	-4.28	0.03732	.	.	.	.	.	T	0.07683	0.0193	N	0.01576	-0.805	.	.	.	B	0.16603	0.018	B	0.09377	0.004	T	0.28618	-1.0038	8	0.87932	D	0	.	4.4821	0.11773	0.2336:0.3731:0.3933:0.0	.	6296	B5ME49	.	Q	6296	ENSP00000381008:H6296Q	ENSP00000381008:H6296Q	H	-	3	2	MUC16	8929558	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.492000	0.00973	-1.636000	0.01533	-1.381000	0.01174	CAT		0.443	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		81	161	0	0	0	1	0	81	161				
TMEM132D	121256	broad.mit.edu	37	12	130184675	130184675	+	Silent	SNP	C	C	T			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr12:130184675C>T	ENST00000422113.2	-	2	974	c.648G>A	c.(646-648)gtG>gtA	p.V216V	RP11-174M13.2_ENST00000544036.1_lincRNA	NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	216					negative regulation of phosphatase activity (GO:0010923)	integral component of membrane (GO:0016021)				NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)		CCGGCTGGTCCACGGACTTCC	0.692																																						ENST00000422113.2																			0				NS(1)|breast(6)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(33)|liver(1)|lung(69)|ovary(10)|pancreas(2)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(2)	152						c.(646-648)gtG>gtA		transmembrane protein 132D							34.0	37.0	36.0					12																	130184675		2203	4300	6503	SO:0001819	synonymous_variant	121256					integral to membrane		g.chr12:130184675C>T	AB061814	CCDS9266.1	12q24.32-q24.33	2014-06-13			ENSG00000151952	ENSG00000151952			29411	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 153"""	611257				11853319, 12966072	Standard	NM_133448		Approved	KIAA1944, MOLT, PPP1R153	uc009zyl.1	Q14C87	OTTHUMG00000168400	ENST00000422113.2:c.648G>A	12.37:g.130184675C>T							p.V216V	NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)	2	974	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)	216					Q14C96|Q76M59|Q8N1W9|Q8N3Q5|Q8TF57	Silent	SNP	ENST00000422113.2	37	c.648G>A	CCDS9266.1																																																																																				0.692	TMEM132D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399592.1	NM_133448		28	91	0	0	0	1	0	28	91				
ACKR3	57007	broad.mit.edu	37	2	237489140	237489140	+	Missense_Mutation	SNP	C	C	A			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr2:237489140C>A	ENST00000272928.3	+	2	342	c.32C>A	c.(31-33)cCa>cAa	p.P11Q		NM_020311.2	NP_064707.1	P25106	ACKR3_HUMAN	atypical chemokine receptor 3	11					angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902230)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|receptor internalization (GO:0031623)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cell surface (GO:0009986)|coated pit (GO:0005905)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	C-X-C chemokine binding (GO:0019958)|C-X-C chemokine receptor activity (GO:0016494)|coreceptor activity (GO:0015026)|scavenger receptor activity (GO:0005044)										TACTCAGAGCCAGGGAACTTC	0.507																																						ENST00000272928.3																			0											c.(31-33)cCa>cAa		atypical chemokine receptor 3							135.0	100.0	112.0					2																	237489140		2203	4300	6503	SO:0001583	missense	57007							g.chr2:237489140C>A	BC008459	CCDS2516.1	2q37.3	2013-07-17	2013-07-16	2013-07-16	ENSG00000144476	ENSG00000144476		"""CD molecules"", ""GPCR / Class A : Chemokine receptors : Atypical"""	23692	protein-coding gene	gene with protein product		610376	"""chemokine orphan receptor 1"", ""chemokine (C-X-C motif) receptor 7"""	CMKOR1, CXCR7		16107333, 16148	Standard	NM_020311		Approved	RDC1, GPR159	uc002vwd.3	P25106	OTTHUMG00000133295	ENST00000272928.3:c.32C>A	2.37:g.237489140C>A	ENSP00000272928:p.Pro11Gln						p.P11Q	NM_020311.2	NP_064707.1					2	342	+								A8K6J4|Q53RV4|Q8NE10|Q92938|Q92986	Missense_Mutation	SNP	ENST00000272928.3	37	c.32C>A	CCDS2516.1	.	.	.	.	.	.	.	.	.	.	C	4.162	0.028483	0.08054	.	.	ENSG00000144476	ENST00000447924;ENST00000272928	T;T	0.70164	0.97;-0.46	5.7	4.81	0.61882	.	0.199608	0.34676	N	0.003774	T	0.49389	0.1554	N	0.24115	0.695	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.31696	-0.9934	10	0.24483	T	0.36	.	10.0977	0.42486	0.2701:0.5991:0.1309:0.0	.	11	P25106	CXCR7_HUMAN	Q	11	ENSP00000405945:P11Q;ENSP00000272928:P11Q	ENSP00000272928:P11Q	P	+	2	0	CXCR7	237153879	0.000000	0.05858	0.017000	0.16124	0.222000	0.24845	0.386000	0.20702	1.366000	0.46076	0.655000	0.94253	CCA		0.507	ACKR3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257079.2	NM_020311		35	82	1	0	1.90571e-15	1	2.24695e-15	35	82				
NUP210L	91181	broad.mit.edu	37	1	153973462	153973462	+	Silent	SNP	G	G	A			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr1:153973462G>A	ENST00000368559.3	-	37	5327	c.5256C>T	c.(5254-5256)taC>taT	p.Y1752Y	U3_ENST00000516860.1_RNA|NUP210L_ENST00000368553.1_Intron|NUP210L_ENST00000271854.3_Intron	NM_207308.2	NP_997191.2	Q5VU65	P210L_HUMAN	nucleoporin 210kDa-like	1752					Sertoli cell development (GO:0060009)|spermatid development (GO:0007286)	integral component of membrane (GO:0016021)				NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2)	80	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)			CTCTTACAGAGTAAATGGCCA	0.478																																						ENST00000368559.3																			0				NS(1)|breast(6)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(12)|lung(34)|ovary(4)|pancreas(1)|prostate(2)|skin(6)|urinary_tract(2)	80						c.(5254-5256)taC>taT		nucleoporin 210kDa-like							128.0	125.0	126.0					1																	153973462		1904	4138	6042	SO:0001819	synonymous_variant	91181					integral to membrane		g.chr1:153973462G>A	AK125924	CCDS41399.1, CCDS53370.1	1q21.3	2008-02-05			ENSG00000143552	ENSG00000143552			29915	protein-coding gene	gene with protein product							Standard	NM_207308		Approved		uc001fdw.3	Q5VU65	OTTHUMG00000035852	ENST00000368559.3:c.5256C>T	1.37:g.153973462G>A						NUP210L_ENST00000368553.1_Intron|NUP210L_ENST00000271854.3_Intron	p.Y1752Y	NM_207308.2	NP_997191.2	Q5VU65	P210L_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.151)|Colorectal(543;0.198)		37	5327	-	all_lung(78;9.35e-31)|Lung NSC(65;1.33e-28)|Hepatocellular(266;0.0877)|Melanoma(130;0.128)		1752					E7EP56|Q5T4L7|Q6ZRN1|Q6ZRT4|Q6ZU81|Q8NDI6|Q9UF31	Silent	SNP	ENST00000368559.3	37	c.5256C>T	CCDS41399.1																																																																																				0.478	NUP210L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087270.3	NM_207308		123	216	0	0	0	1	0	123	216				
PCDH17	27253	broad.mit.edu	37	13	58208456	58208456	+	Silent	SNP	C	C	G			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr13:58208456C>G	ENST00000377918.3	+	1	1802	c.1776C>G	c.(1774-1776)acC>acG	p.T592T		NM_001040429.2	NP_001035519.1	O14917	PCD17_HUMAN	protocadherin 17	592	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		AGAACGACACCGCGGAGCTGC	0.662																																					Melanoma(72;952 1291 1619 12849 33676)	ENST00000377918.3																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120						c.(1774-1776)acC>acG		protocadherin 17							32.0	31.0	31.0					13																	58208456		2202	4299	6501	SO:0001819	synonymous_variant	27253				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding	g.chr13:58208456C>G	AF029343	CCDS31986.1	13q21.1	2010-01-26			ENSG00000118946	ENSG00000118946		"""Cadherins / Protocadherins : Non-clustered"""	14267	protein-coding gene	gene with protein product		611760				10835267	Standard	NM_001040429		Approved	PCDH68, PCH68	uc001vhq.1	O14917	OTTHUMG00000016992	ENST00000377918.3:c.1776C>G	13.37:g.58208456C>G							p.T592T	NM_001040429.2	NP_001035519.1	O14917	PCD17_HUMAN		GBM - Glioblastoma multiforme(99;1.06e-05)	1	1802	+		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)	592			Cadherin 6.		A8K1R5|Q5VVW9|Q5VVX0	Silent	SNP	ENST00000377918.3	37	c.1776C>G	CCDS31986.1																																																																																				0.662	PCDH17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045139.1	NM_001040429		60	65	0	0	0	1	0	60	65				
ZNF518B	85460	broad.mit.edu	37	4	10447135	10447135	+	Missense_Mutation	SNP	T	T	C			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr4:10447135T>C	ENST00000326756.3	-	3	1256	c.818A>G	c.(817-819)cAc>cGc	p.H273R		NM_053042.2	NP_444270.2	Q9C0D4	Z518B_HUMAN	zinc finger protein 518B	273					regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	42						CATGATATTGTGCATTTTGTC	0.373																																						ENST00000326756.3																			0				breast(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(7)|lung(16)|ovary(3)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)	42						c.(817-819)cAc>cGc		zinc finger protein 518B							217.0	210.0	213.0					4																	10447135		2203	4300	6503	SO:0001583	missense	85460				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr4:10447135T>C	AB051516	CCDS33960.1	4p16.1	2007-12-07				ENSG00000178163		"""Zinc fingers, C2H2-type"""	29365	protein-coding gene	gene with protein product						11214970	Standard	XM_005248193		Approved	KIAA1729	uc003gmn.3	Q9C0D4		ENST00000326756.3:c.818A>G	4.37:g.10447135T>C	ENSP00000317614:p.His273Arg						p.H273R	NM_053042.2	NP_444270.2	Q9C0D4	Z518B_HUMAN			3	1256	-			273					Q96LN8	Missense_Mutation	SNP	ENST00000326756.3	37	c.818A>G	CCDS33960.1	.	.	.	.	.	.	.	.	.	.	T	14.54	2.566234	0.45694	.	.	ENSG00000178163	ENST00000326756	T	0.01474	4.85	6.17	-2.91	0.05631	.	1.203270	0.05903	N	0.630342	T	0.01558	0.0050	L	0.36672	1.1	0.09310	N	1	B	0.10296	0.003	B	0.06405	0.002	T	0.49031	-0.8981	10	0.32370	T	0.25	-5.4095	1.6842	0.02838	0.215:0.2632:0.3593:0.1625	.	273	Q9C0D4	Z518B_HUMAN	R	273	ENSP00000317614:H273R	ENSP00000317614:H273R	H	-	2	0	ZNF518B	10056233	0.000000	0.05858	0.001000	0.08648	0.995000	0.86356	0.070000	0.14573	-0.361000	0.08125	0.533000	0.62120	CAC		0.373	ZNF518B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359040.1	NM_053042		193	297	0	0	0	1	0	193	297				
ZFP90	146198	broad.mit.edu	37	16	68597604	68597604	+	Missense_Mutation	SNP	C	C	A			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr16:68597604C>A	ENST00000570495.1	+	5	1206	c.914C>A	c.(913-915)aCc>aAc	p.T305N	ZFP90_ENST00000398253.2_Missense_Mutation_p.T305N|ZFP90_ENST00000563169.2_Missense_Mutation_p.T305N			Q8TF47	ZFP90_HUMAN	ZFP90 zinc finger protein	305					negative regulation of DNA binding (GO:0043392)|positive regulation of transcription, DNA-templated (GO:0045893)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)			breast(2)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	27		Ovarian(137;0.192)		OV - Ovarian serous cystadenocarcinoma(108;0.00233)|Epithelial(162;0.0184)|all cancers(182;0.0946)		AATGCTCATACCGGAGAGAAA	0.488																																						ENST00000570495.1																			0				breast(2)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	27						c.(913-915)aCc>aAc		ZFP90 zinc finger protein							76.0	85.0	82.0					16																	68597604		2167	4294	6461	SO:0001583	missense	146198				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr16:68597604C>A	AK074332	CCDS42183.1	16q22.1	2013-01-08	2012-11-27			ENSG00000184939		"""Zinc fingers, C2H2-type"", ""-"""	23329	protein-coding gene	gene with protein product		609451	"""zinc finger protein 90 homolog (mouse)"""			7576184	Standard	NM_133458		Approved	KIAA1954, NK10, ZNF756	uc002ewc.3	Q8TF47		ENST00000570495.1:c.914C>A	16.37:g.68597604C>A	ENSP00000460547:p.Thr305Asn					RP11-615I2.7_ENST00000571720.1_RNA|ZFP90_ENST00000398253.2_Missense_Mutation_p.T305N|ZFP90_ENST00000563169.2_Missense_Mutation_p.T305N	p.T305N			Q8TF47	ZFP90_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.00233)|Epithelial(162;0.0184)|all cancers(182;0.0946)	5	1206	+		Ovarian(137;0.192)	305					B2RU00|B3KVE7|Q49AD1|Q96MQ6	Missense_Mutation	SNP	ENST00000570495.1	37	c.914C>A	CCDS42183.1	.	.	.	.	.	.	.	.	.	.	C	17.94	3.512271	0.64522	.	.	ENSG00000184939	ENST00000398253	T	0.26067	1.76	6.17	5.22	0.72569	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.45418	0.1341	L	0.60012	1.86	0.39286	D	0.964648	D	0.62365	0.991	D	0.68943	0.961	T	0.33979	-0.9847	9	0.56958	D	0.05	-10.0477	13.7202	0.62723	0.0:0.9247:0.0:0.0753	.	305	Q8TF47	ZFP90_HUMAN	N	305	ENSP00000381304:T305N	ENSP00000381304:T305N	T	+	2	0	ZFP90	67155105	0.982000	0.34865	0.969000	0.41365	0.837000	0.47467	2.656000	0.46716	2.941000	0.99782	0.655000	0.94253	ACC		0.488	ZFP90-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436217.3	XM_085375		33	105	1	0	1.74807e-11	1	1.92333e-11	33	105				
COL11A1	1301	broad.mit.edu	37	1	103444452	103444452	+	Missense_Mutation	SNP	T	T	A			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr1:103444452T>A	ENST00000370096.3	-	34	2985	c.2673A>T	c.(2671-2673)agA>agT	p.R891S	COL11A1_ENST00000358392.2_Missense_Mutation_p.R903S|COL11A1_ENST00000512756.1_Missense_Mutation_p.R775S|COL11A1_ENST00000353414.4_Missense_Mutation_p.R852S	NM_001854.3	NP_001845.3	P12107	COBA1_HUMAN	collagen, type XI, alpha 1	891	Triple-helical region.				cartilage condensation (GO:0001502)|chondrocyte development (GO:0002063)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|embryonic skeletal system morphogenesis (GO:0048704)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|inner ear morphogenesis (GO:0042472)|proteoglycan metabolic process (GO:0006029)|sensory perception of sound (GO:0007605)|tendon development (GO:0035989)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visual perception (GO:0007601)	collagen type XI trimer (GO:0005592)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)	extracellular matrix binding (GO:0050840)|extracellular matrix structural constituent (GO:0005201)|metal ion binding (GO:0046872)|protein binding, bridging (GO:0030674)			NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)		CTCTTGCACCTCTTGAACCTC	0.398																																						ENST00000358392.2																			0				NS(3)|biliary_tract(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(17)|kidney(8)|large_intestine(28)|lung(157)|ovary(6)|pancreas(2)|prostate(6)|skin(9)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(1)	258						c.(2707-2709)agA>agT		collagen, type XI, alpha 1							75.0	80.0	79.0					1																	103444452		2203	4300	6503	SO:0001583	missense	1301				collagen fibril organization|detection of mechanical stimulus involved in sensory perception of sound|visual perception	collagen type XI	extracellular matrix binding|extracellular matrix structural constituent|protein binding, bridging	g.chr1:103444452T>A	J04177	CCDS778.1, CCDS780.1, CCDS780.2, CCDS53348.1	1p21	2013-01-16			ENSG00000060718	ENSG00000060718		"""Collagens"""	2186	protein-coding gene	gene with protein product	"""collagen XI, alpha-1 polypeptide"""	120280		COLL6		3182841	Standard	NM_080630		Approved	STL2, CO11A1	uc001dul.3	P12107	OTTHUMG00000010872	ENST00000370096.3:c.2673A>T	1.37:g.103444452T>A	ENSP00000359114:p.Arg891Ser					COL11A1_ENST00000512756.1_Missense_Mutation_p.R775S|COL11A1_ENST00000370096.3_Missense_Mutation_p.R891S|COL11A1_ENST00000353414.4_Missense_Mutation_p.R852S	p.R903S	NM_080629.2	NP_542196.2	P12107	COBA1_HUMAN		Lung(183;0.186)|all cancers(265;0.242)|Epithelial(280;0.248)	34	3026	-		all_epithelial(167;2.52e-07)|all_lung(203;3.11e-05)|Lung NSC(277;6.61e-05)|Breast(1374;0.181)	891			Triple-helical region.		B1ASK7|D3DT73|E9PCU0|Q14034|Q149N0|Q9UIT4|Q9UIT5|Q9UIT6	Missense_Mutation	SNP	ENST00000370096.3	37	c.2709A>T	CCDS778.1	.	.	.	.	.	.	.	.	.	.	T	15.25	2.778069	0.49786	.	.	ENSG00000060718	ENST00000370096;ENST00000358392;ENST00000353414;ENST00000370090;ENST00000512756	T;T;T;D	0.93076	1.72;1.72;1.72;-3.16	5.35	3.04	0.35103	.	0.000000	0.85682	D	0.000000	D	0.91978	0.7459	L	0.41415	1.275	0.58432	D	0.999999	D;D;D;D;D	0.67145	0.967;0.989;0.996;0.981;0.981	D;D;D;D;D	0.77557	0.916;0.985;0.99;0.966;0.962	D	0.91615	0.5306	10	0.87932	D	0	.	9.4028	0.38442	0.0:0.1448:0.0:0.8552	.	775;852;903;891;111	E9PCU0;P12107-3;P12107-2;P12107;F5H5Z5	.;.;.;COBA1_HUMAN;.	S	891;903;852;111;775	ENSP00000359114:R891S;ENSP00000351163:R903S;ENSP00000302551:R852S;ENSP00000426533:R775S	ENSP00000302551:R852S	R	-	3	2	COL11A1	103217040	1.000000	0.71417	0.977000	0.42913	0.858000	0.48976	1.130000	0.31393	0.360000	0.24265	0.533000	0.62120	AGA		0.398	COL11A1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000029997.1	NM_080630		61	104	0	0	0	1	0	61	104				
NAV1	89796	broad.mit.edu	37	1	201687752	201687752	+	Silent	SNP	G	G	A			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr1:201687752G>A	ENST00000367296.4	+	3	1515	c.1095G>A	c.(1093-1095)aaG>aaA	p.K365K	MIR5191_ENST00000577455.1_RNA|NAV1_ENST00000367300.3_Silent_p.K365K|NAV1_ENST00000367297.4_Silent_p.K365K|NAV1_ENST00000367302.1_Silent_p.K378K|NAV1_ENST00000295624.6_Silent_p.K365K|IPO9-AS1_ENST00000413035.1_RNA	NM_020443.4	NP_065176.3	Q8NEY1	NAV1_HUMAN	neuron navigator 1	365					microtubule bundle formation (GO:0001578)|neuron migration (GO:0001764)	cytoplasm (GO:0005737)|microtubule (GO:0005874)				breast(5)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(29)|ovary(4)|prostate(3)|skin(1)|stomach(2)	70						GCCCCAGCAAGCTCAGCCATA	0.647																																						ENST00000367296.4																			0				breast(5)|central_nervous_system(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(29)|ovary(4)|prostate(3)|skin(1)|stomach(2)	70						c.(1093-1095)aaG>aaA		neuron navigator 1							101.0	94.0	96.0					1																	201687752		2203	4300	6503	SO:0001819	synonymous_variant	89796				cell differentiation|nervous system development	cytoplasm|microtubule	nucleoside-triphosphatase activity|nucleotide binding	g.chr1:201687752G>A	AF086348	CCDS1414.1, CCDS1414.2, CCDS53456.1	1q32.3	2008-07-18			ENSG00000134369	ENSG00000134369			15989	protein-coding gene	gene with protein product	"""neuron navigator-1"", ""pore membrane and/or filament interacting like protein 3"""	611628				12079279, 12062803	Standard	NM_020443		Approved	FLJ12560, FLJ14203, KIAA1151, MGC14961, POMFIL3, steerin-1, DKFZp781D0314	uc001gwu.3	Q8NEY1	OTTHUMG00000035766	ENST00000367296.4:c.1095G>A	1.37:g.201687752G>A						IPO9-AS1_ENST00000413035.1_RNA|NAV1_ENST00000295624.6_Silent_p.K365K|NAV1_ENST00000367300.3_Silent_p.K365K|NAV1_ENST00000367302.1_Silent_p.K378K|NAV1_ENST00000367297.4_Silent_p.K365K	p.K365K	NM_020443.4	NP_065176.3	Q8NEY1	NAV1_HUMAN			3	1515	+			365					A8MS88|Q5SVH1|Q5SVH2|Q5SVH3|Q5SVH7|Q5VUY9|Q8IVL2|Q96II1|Q9H7V9|Q9H9S9|Q9H9T5|Q9UGI1|Q9ULK7|Q9ULR9	Silent	SNP	ENST00000367296.4	37	c.1095G>A	CCDS1414.2																																																																																				0.647	NAV1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000087013.1	NM_020443		140	217	0	0	0	1	0	140	217				
ZNF804B	219578	broad.mit.edu	37	7	88964895	88964895	+	Missense_Mutation	SNP	A	A	G			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr7:88964895A>G	ENST00000333190.4	+	4	3208	c.2599A>G	c.(2599-2601)Aaa>Gaa	p.K867E		NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	867							metal ion binding (GO:0046872)			NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			TTACTTGAATAAAAGCAAGAG	0.428										HNSCC(36;0.09)																												ENST00000333190.4																			0				NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144						c.(2599-2601)Aaa>Gaa		zinc finger protein 804B							58.0	60.0	59.0					7																	88964895		2203	4299	6502	SO:0001583	missense	219578					intracellular	zinc ion binding	g.chr7:88964895A>G	AK056672	CCDS5613.1	7q21.13	2012-10-05	2006-12-18		ENSG00000182348	ENSG00000182348			21958	protein-coding gene	gene with protein product			"""zinc finger 804B"""				Standard	NM_181646		Approved	FLJ32110	uc011khi.2	A4D1E1	OTTHUMG00000131037	ENST00000333190.4:c.2599A>G	7.37:g.88964895A>G	ENSP00000329638:p.Lys867Glu	HNSCC(36;0.09)					p.K867E	NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	STAD - Stomach adenocarcinoma(171;0.0513)		4	3208	+	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		867					B2RTV2|Q7Z714|Q96MN7	Missense_Mutation	SNP	ENST00000333190.4	37	c.2599A>G	CCDS5613.1	.	.	.	.	.	.	.	.	.	.	A	10.28	1.305358	0.23736	.	.	ENSG00000182348	ENST00000333190	T	0.06933	3.24	5.19	2.76	0.32466	.	0.339515	0.29205	N	0.012829	T	0.05868	0.0153	L	0.34521	1.04	0.09310	N	1	B	0.23540	0.087	B	0.17433	0.018	T	0.33803	-0.9854	10	0.42905	T	0.14	-10.7553	4.6609	0.12641	0.6164:0.1552:0.2284:0.0	.	867	A4D1E1	Z804B_HUMAN	E	867	ENSP00000329638:K867E	ENSP00000329638:K867E	K	+	1	0	ZNF804B	88802831	0.872000	0.30054	0.188000	0.23233	0.031000	0.12232	1.701000	0.37825	0.425000	0.26087	0.533000	0.62120	AAA		0.428	ZNF804B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253683.2	NM_181646		19	130	0	0	0	1	0	19	130				
NCOA4	8031	broad.mit.edu	37	10	51582808	51582808	+	Missense_Mutation	SNP	G	G	T			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr10:51582808G>T	ENST00000443446.1	+	7	812	c.583G>T	c.(583-585)Ggt>Tgt	p.G195C	NCOA4_ENST00000374087.4_Missense_Mutation_p.G195C|NCOA4_ENST00000452682.1_Missense_Mutation_p.G211C|NCOA4_ENST00000498586.1_3'UTR|NCOA4_ENST00000430396.2_Missense_Mutation_p.G95C|NCOA4_ENST00000344348.6_Missense_Mutation_p.G195C|NCOA4_ENST00000438493.1_Missense_Mutation_p.G211C|NCOA4_ENST00000414907.2_Missense_Mutation_p.G29C|NCOA4_ENST00000374082.1_Missense_Mutation_p.G195C	NM_001145262.1	NP_001138734.1	Q13772	NCOA4_HUMAN	nuclear receptor coactivator 4	195					androgen receptor signaling pathway (GO:0030521)|male gonad development (GO:0008584)|positive regulation of transcription, DNA-templated (GO:0045893)|response to hormone (GO:0009725)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|transcription coactivator activity (GO:0003713)			NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|skin(1)	5						GTCAGCATCCGGTATTGTAGC	0.478			T	RET	papillary thyroid																																	ENST00000452682.1				Dom	yes		10	10q11.2	8031	T	nuclear receptor coactivator 4 - PTC3 (ELE1)			E	RET		papillary thyroid		0				NS(1)|central_nervous_system(1)|kidney(1)|large_intestine(1)|skin(1)	5						c.(631-633)Ggt>Tgt		nuclear receptor coactivator 4							86.0	75.0	79.0					10																	51582808		2203	4300	6503	SO:0001583	missense	8031				androgen receptor signaling pathway|male gonad development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	androgen receptor binding|transcription coactivator activity	g.chr10:51582808G>T	L49399	CCDS73092.1, CCDS73093.1, CCDS73094.1	10q11.2	2014-04-10			ENSG00000138293	ENSG00000266412			7671	protein-coding gene	gene with protein product	"""RET-activating gene ELE1"""	601984				8290261, 8643607, 24695223	Standard	NM_001145260		Approved	ARA70, RFG, ELE1, PTC3, DKFZp762E1112	uc009xon.3	Q13772	OTTHUMG00000188314	ENST00000443446.1:c.583G>T	10.37:g.51582808G>T	ENSP00000390713:p.Gly195Cys					NCOA4_ENST00000438493.1_Missense_Mutation_p.G211C|NCOA4_ENST00000443446.1_Missense_Mutation_p.G195C|NCOA4_ENST00000414907.2_Missense_Mutation_p.G29C|NCOA4_ENST00000344348.6_Missense_Mutation_p.G195C|NCOA4_ENST00000374082.1_Missense_Mutation_p.G195C|NCOA4_ENST00000430396.2_Missense_Mutation_p.G95C|NCOA4_ENST00000498586.1_3'UTR|NCOA4_ENST00000374087.4_Missense_Mutation_p.G195C	p.G211C	NM_001145260.1	NP_001138732.1	Q13772	NCOA4_HUMAN			8	883	+			195					A8K8W5|B4E260|E9PAV7|J3KQN8|Q14239	Missense_Mutation	SNP	ENST00000443446.1	37	c.631G>T	CCDS7237.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	11.52|11.52	1.663501|1.663501	0.29515|0.29515	.|.	.|.	ENSG00000138293|ENSG00000138293	ENST00000438493;ENST00000452682;ENST00000430396;ENST00000374087;ENST00000330923;ENST00000414907;ENST00000344348;ENST00000374082;ENST00000443446|ENST00000431200	T;T;T;T;T;T;T;T|.	0.23950|.	2.45;2.41;2.17;2.45;1.88;2.45;2.14;2.45|.	5.93|5.93	-6.53|-6.53	0.01866|0.01866	.|.	0.875812|.	0.10626|.	N|.	0.652750|.	T|T	0.17746|0.17746	0.0426|0.0426	N|N	0.24115|0.24115	0.695|0.695	0.09310|0.09310	N|N	0.999993|0.999993	P;P;P;B|.	0.50156|.	0.932;0.64;0.64;0.001|.	B;B;B;B|.	0.41764|.	0.366;0.366;0.366;0.005|.	T|T	0.29792|0.29792	-1.0000|-1.0000	10|5	0.59425|.	D|.	0.04|.	-12.9919|-12.9919	2.9996|2.9996	0.06009|0.06009	0.297:0.2239:0.3781:0.101|0.297:0.2239:0.3781:0.101	.|.	95;211;211;195|.	B4DF87;B4E260;E9PAV7;Q13772|.	.;.;.;NCOA4_HUMAN|.	C|L	211;211;95;195;195;29;195;195;195|110	ENSP00000405146:G211C;ENSP00000395465:G211C;ENSP00000393053:G95C;ENSP00000363200:G195C;ENSP00000411018:G29C;ENSP00000344552:G195C;ENSP00000363195:G195C;ENSP00000390713:G195C|.	ENSP00000332421:G195C|.	G|R	+|+	1|2	0|0	NCOA4|NCOA4	51252814|51252814	0.952000|0.952000	0.32445|0.32445	0.030000|0.030000	0.17652|0.17652	0.023000|0.023000	0.10783|0.10783	0.391000|0.391000	0.20784|0.20784	-0.668000|-0.668000	0.05296|0.05296	-1.910000|-1.910000	0.00522|0.00522	GGT|CGG		0.478	NCOA4-204	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048052.1	NM_005437		41	49	1	0	4.01765e-15	1	4.69824e-15	41	49				
GPR128	84873	broad.mit.edu	37	3	100352189	100352189	+	Missense_Mutation	SNP	T	T	C			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr3:100352189T>C	ENST00000273352.3	+	4	683	c.415T>C	c.(415-417)Tgc>Cgc	p.C139R	GPR128_ENST00000475887.1_5'Flank	NM_032787.2	NP_116176.2	Q96K78	GP128_HUMAN	G protein-coupled receptor 128	139					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	56						AATAGGAAATTGCAATGAAAA	0.408																																					Pancreas(87;185 1975 7223 18722)	ENST00000273352.3																			0				NS(1)|autonomic_ganglia(1)|breast(2)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|liver(2)|lung(20)|ovary(3)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	56						c.(415-417)Tgc>Cgc		G protein-coupled receptor 128							43.0	43.0	43.0					3																	100352189		2203	4300	6503	SO:0001583	missense	84873				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr3:100352189T>C	AK027360	CCDS2938.1	3q12.3	2014-08-08			ENSG00000144820	ENSG00000144820		"""-"", ""GPCR / Class B : Orphans"""	19241	protein-coding gene	gene with protein product		612307					Standard	NM_032787		Approved	FLJ14454	uc003duc.3	Q96K78	OTTHUMG00000159083	ENST00000273352.3:c.415T>C	3.37:g.100352189T>C	ENSP00000273352:p.Cys139Arg						p.C139R	NM_032787.2	NP_116176.2	Q96K78	GP128_HUMAN			4	683	+			139					Q14D94|Q86SQ2	Missense_Mutation	SNP	ENST00000273352.3	37	c.415T>C	CCDS2938.1	.	.	.	.	.	.	.	.	.	.	T	16.26	3.072157	0.55646	.	.	ENSG00000144820	ENST00000273352	T	0.56776	0.44	5.67	5.67	0.87782	.	0.000000	0.64402	D	0.000005	T	0.70894	0.3276	M	0.73598	2.24	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.73553	-0.3946	10	0.56958	D	0.05	.	12.2909	0.54817	0.0:0.0:0.0:1.0	.	139	Q96K78	GP128_HUMAN	R	139	ENSP00000273352:C139R	ENSP00000273352:C139R	C	+	1	0	GPR128	101834879	0.979000	0.34478	0.088000	0.20740	0.007000	0.05969	3.444000	0.52914	2.146000	0.66826	0.528000	0.53228	TGC		0.408	GPR128-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353236.1			5	70	0	0	0	1	0	5	70				
LOC100128164	100128164	broad.mit.edu	37	3	169664252	169664252	+	RNA	SNP	C	C	A			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr3:169664252C>A	ENST00000487580.1	-	0	263				RP11-379K17.4_ENST00000483289.2_RNA|RP11-379K17.4_ENST00000600502.1_RNA																							GGAGAGTCCTCCTGAGTGGCA	0.527																																						ENST00000483289.2																			0																																																			100128164							g.chr3:169664252C>A																													3.37:g.169664252C>A						RP11-379K17.4_ENST00000487580.1_RNA		NR_027622.1						0	3042	-									RNA	SNP	ENST00000487580.1	37																																																																																						0.527	RP11-379K17.4-003	KNOWN	basic|exp_conf	antisense	antisense	OTTHUMT00000351957.1			68	73	1	0	5.26073e-25	1	6.74129e-25	68	73				
ATP10A	57194	broad.mit.edu	37	15	25961899	25961899	+	Missense_Mutation	SNP	G	G	T			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr15:25961899G>T	ENST00000356865.6	-	9	1865	c.1754C>A	c.(1753-1755)tCc>tAc	p.S585Y		NM_024490.3	NP_077816.1	O60312	AT10A_HUMAN	ATPase, class V, type 10A	585					ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|regulation of cell shape (GO:0008360)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)		CTGATCCGGGGACGTGACGAC	0.587																																						ENST00000356865.6																			0				NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103						c.(1753-1755)tCc>tAc		ATPase, class V, type 10A							144.0	130.0	135.0					15																	25961899		2203	4300	6503	SO:0001583	missense	57194				ATP biosynthetic process|regulation of cell shape	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr15:25961899G>T	AB011138	CCDS32178.1	15q12	2010-04-20	2007-09-19		ENSG00000206190	ENSG00000206190		"""ATPases / P-type"""	13542	protein-coding gene	gene with protein product		605855	"""ATPase, Class V, type 10C"", ""ATPase, Class V, type 10A"""	ATP10C		11015572, 9628581	Standard	NM_024490		Approved	ATPVA, ATPVC, KIAA0566	uc010ayu.3	O60312		ENST00000356865.6:c.1754C>A	15.37:g.25961899G>T	ENSP00000349325:p.Ser585Tyr						p.S585Y	NM_024490.3	NP_077816.1	O60312	AT10A_HUMAN		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)	9	1865	-		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)	585					Q4G0S9|Q969I4	Missense_Mutation	SNP	ENST00000356865.6	37	c.1754C>A	CCDS32178.1	.	.	.	.	.	.	.	.	.	.	G	18.78	3.696702	0.68386	.	.	ENSG00000206190	ENST00000356865	T	0.11169	2.8	5.38	4.47	0.54385	HAD-like domain (1);ATPase, P-type, cytoplasmic domain N (1);	0.381500	0.30036	N	0.010571	T	0.29588	0.0738	M	0.64997	1.995	0.36533	D	0.870855	D	0.55385	0.971	P	0.59761	0.863	T	0.28996	-1.0026	10	0.66056	D	0.02	-20.1907	19.057	0.93069	0.0:0.1172:0.8828:0.0	.	585	O60312	AT10A_HUMAN	Y	585	ENSP00000349325:S585Y	ENSP00000349325:S585Y	S	-	2	0	ATP10A	23512992	1.000000	0.71417	0.856000	0.33681	0.668000	0.39293	6.488000	0.73637	0.653000	0.30826	-0.810000	0.03169	TCC		0.587	ATP10A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414830.1	NM_024490		43	204	1	0	4.00472e-15	1	4.69594e-15	43	204				
FCGR2A	2212	broad.mit.edu	37	1	161480736	161480736	+	Silent	SNP	G	G	A	rs534740747	byFrequency	TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr1:161480736G>A	ENST00000271450.6	+	5	770	c.732G>A	c.(730-732)aaG>aaA	p.K244K	RP11-25K21.6_ENST00000537821.2_RNA|FCGR2A_ENST00000367972.4_Silent_p.K243K	NM_001136219.1|NM_021642.3	NP_001129691.1|NP_067674.2	P12318	FCG2A_HUMAN	Fc fragment of IgG, low affinity IIa, receptor (CD32)	244					Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				autonomic_ganglia(1)|breast(2)|endometrium(2)|large_intestine(2)|lung(11)|ovary(1)	19	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Intravenous Immunoglobulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)	GCAGGAAAAAGCGGATTTCAG	0.522													G|||	2	0.000399361	0.0	0.0	5008	,	,		7358	0.0		0.0	False		,,,				2504	0.002					ENST00000271450.6																			0				autonomic_ganglia(1)|breast(2)|endometrium(2)|large_intestine(2)|lung(11)|ovary(1)	19						c.(730-732)aaG>aaA		Fc fragment of IgG, low affinity IIa, receptor (CD32)	Abciximab(DB00054)|Adalimumab(DB00051)|Alefacept(DB00092)|Alemtuzumab(DB00087)|Basiliximab(DB00074)|Bevacizumab(DB00112)|Cetuximab(DB00002)|Daclizumab(DB00111)|Efalizumab(DB00095)|Etanercept(DB00005)|Gemtuzumab ozogamicin(DB00056)|Ibritumomab(DB00078)|Immune globulin(DB00028)|Muromonab(DB00075)|Natalizumab(DB00108)|Palivizumab(DB00110)|Rituximab(DB00073)|Tositumomab(DB00081)|Trastuzumab(DB00072)						336.0	326.0	329.0					1																	161480736		2203	4300	6503	SO:0001819	synonymous_variant	2212					integral to membrane|plasma membrane	IgG binding|receptor activity	g.chr1:161480736G>A	J03619	CCDS30922.1, CCDS44264.1	1q23	2013-01-11	2005-02-02		ENSG00000143226	ENSG00000143226		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3616	protein-coding gene	gene with protein product	"""Immunoglobulin G Fc receptor II"""	146790	"""Fc fragment of IgG, low affinity IIa, receptor for (CD32)"""	FCG2, FCGR2A1, FCGR2		2139735	Standard	NM_021642		Approved	CD32, CD32A, IGFR2, CDw32	uc001gan.3	P12318	OTTHUMG00000034469	ENST00000271450.6:c.732G>A	1.37:g.161480736G>A						FCGR2A_ENST00000467525.1_3'UTR|FCGR2A_ENST00000367972.4_Silent_p.K243K	p.K244K	NM_001136219.1|NM_021642.3	NP_001129691.1|NP_067674.2	P12318	FCG2A_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00376)		5	770	+	all_cancers(52;4.89e-16)|all_hematologic(112;0.0207)		244					Q8WUN1|Q8WW64	Silent	SNP	ENST00000271450.6	37	c.732G>A	CCDS44264.1																																																																																				0.522	FCGR2A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000083318.3	NM_021642		72	539	0	0	0	1	0	72	539				
ATP10D	57205	broad.mit.edu	37	4	47538808	47538808	+	Missense_Mutation	SNP	A	A	G			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr4:47538808A>G	ENST00000273859.3	+	9	1518	c.1249A>G	c.(1249-1251)Att>Gtt	p.I417V	ATP10D_ENST00000504445.1_Missense_Mutation_p.I402V	NM_020453.3	NP_065186.3	Q9P241	AT10D_HUMAN	ATPase, class V, type 10D	417					cation transport (GO:0006812)|ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(2)|endometrium(5)|kidney(5)|large_intestine(14)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	66						AATGGATTCTATTGTTCAGTG	0.393																																						ENST00000273859.3																			0				NS(2)|endometrium(5)|kidney(5)|large_intestine(14)|liver(2)|lung(26)|ovary(2)|pancreas(1)|prostate(5)|skin(2)|stomach(1)|urinary_tract(1)	66						c.(1249-1251)Att>Gtt		ATPase, class V, type 10D							56.0	56.0	56.0					4																	47538808		2203	4298	6501	SO:0001583	missense	57205				ATP biosynthetic process|cation transport	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr4:47538808A>G	AB040920	CCDS3476.1	4p12	2010-04-20	2007-09-19		ENSG00000145246	ENSG00000145246		"""ATPases / P-type"""	13549	protein-coding gene	gene with protein product			"""ATPase, Class V, type 10D"""			12532265	Standard	NM_020453		Approved	ATPVD, KIAA1487	uc003gxk.1	Q9P241	OTTHUMG00000160784	ENST00000273859.3:c.1249A>G	4.37:g.47538808A>G	ENSP00000273859:p.Ile417Val					ATP10D_ENST00000504445.1_Missense_Mutation_p.I402V	p.I417V	NM_020453.3	NP_065186.3	Q9P241	AT10D_HUMAN			9	1518	+			417					A2RRC8|D6REN2|Q8NC70|Q96SR3	Missense_Mutation	SNP	ENST00000273859.3	37	c.1249A>G	CCDS3476.1	.	.	.	.	.	.	.	.	.	.	A	1.227	-0.625112	0.03610	.	.	ENSG00000145246	ENST00000273859;ENST00000504445	D;T	0.88354	-2.37;1.03	5.38	2.86	0.33363	.	0.332477	0.32548	N	0.005955	T	0.71426	0.3338	N	0.03608	-0.345	0.09310	N	1	B;B	0.09022	0.002;0.001	B;B	0.04013	0.001;0.001	T	0.58752	-0.7581	10	0.29301	T	0.29	-8.3549	6.4547	0.21924	0.7851:0.0:0.0758:0.1391	.	417;402	Q9P241;Q6PEW3	AT10D_HUMAN;.	V	417;402	ENSP00000273859:I417V;ENSP00000420909:I402V	ENSP00000273859:I417V	I	+	1	0	ATP10D	47233565	0.000000	0.05858	0.036000	0.18154	0.011000	0.07611	1.323000	0.33701	0.324000	0.23333	0.528000	0.53228	ATT		0.393	ATP10D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216900.1	NM_020453		24	44	0	0	0	1	0	24	44				
MIR450A1	554214	broad.mit.edu	37	X	133674401	133674401	+	RNA	SNP	G	G	T			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chrX:133674401G>T	ENST00000362262.1	-	0	60				MIR450B_ENST00000401182.1_RNA|MIR450A2_ENST00000385022.1_RNA|MIR542_ENST00000385050.1_RNA	NR_029962.1				microRNA 450a-1																		CATGCAAAATGTTCCCAATAT	0.343																																						ENST00000362262.1																			0																				135.0	104.0	113.0					X																	133674401		1567	3581	5148			554214							g.chrX:133674401G>T			Xq26.3	2011-09-12	2007-10-23	2008-12-18	ENSG00000199132	ENSG00000199132		"""ncRNAs / Micro RNAs"""	28008	non-coding RNA	RNA, micro			"""microRNA 450"", ""microRNA 450-1"""	MIRN450, MIRN450-1, MIRN450A1			Standard	NR_029962		Approved	hsa-mir-450, hsa-mir-450-1, hsa-mir-450a-1	uc011mvl.2				X.37:g.133674401G>T								NR_029962.1						0	60	-									RNA	SNP	ENST00000362262.1	37																																																																																						0.343	MIR450A1-201	KNOWN	basic	miRNA	miRNA		NR_029962		17	36	1	0	4.14922e-12	1	4.63672e-12	17	36				
SPATA18	132671	broad.mit.edu	37	4	52943089	52943089	+	Silent	SNP	C	C	A			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr4:52943089C>A	ENST00000295213.4	+	7	1277	c.903C>A	c.(901-903)gcC>gcA	p.A301A	SPATA18_ENST00000419395.2_Silent_p.A269A	NM_145263.2	NP_660306.1	Q8TC71	MIEAP_HUMAN	spermatogenesis associated 18	301	Ser-rich.				cellular response to DNA damage stimulus (GO:0006974)|mitochondrial protein catabolic process (GO:0035694)|mitochondrion degradation by induced vacuole formation (GO:0035695)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrial outer membrane (GO:0005741)				breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41			GBM - Glioblastoma multiforme(4;1.77e-13)|LUSC - Lung squamous cell carcinoma(32;0.00204)			GCAAGGCTGCCCTCTTGTCCC	0.652																																						ENST00000295213.4																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(20)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	41						c.(901-903)gcC>gcA		spermatogenesis associated 18							64.0	49.0	54.0					4																	52943089		2203	4300	6503	SO:0001819	synonymous_variant	132671				mitochondrial protein catabolic process|mitochondrion degradation by induced vacuole formation|response to DNA damage stimulus	mitochondrial outer membrane	protein binding	g.chr4:52943089C>A	BC025396	CCDS3489.1, CCDS75124.1	4q11	2012-01-23	2012-01-23		ENSG00000163071	ENSG00000163071			29579	protein-coding gene	gene with protein product		612814	"""spermatogenesis associated 18 homolog (rat)"""			21300779	Standard	XR_245253		Approved	FLJ32906	uc003gzl.3	Q8TC71	OTTHUMG00000128698	ENST00000295213.4:c.903C>A	4.37:g.52943089C>A						SPATA18_ENST00000419395.2_Silent_p.A269A	p.A301A	NM_145263.2	NP_660306.1	Q8TC71	MIEAP_HUMAN	GBM - Glioblastoma multiforme(4;1.77e-13)|LUSC - Lung squamous cell carcinoma(32;0.00204)		7	1277	+			301			Ser-rich.		B4E2R0|E5RLK1|Q8IY48|Q8N7D7	Silent	SNP	ENST00000295213.4	37	c.903C>A	CCDS3489.1																																																																																				0.652	SPATA18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250597.2	NM_145263		15	104	1	0	6.72482e-11	1	7.34241e-11	15	104				
GPR158	57512	broad.mit.edu	37	10	25464376	25464376	+	Silent	SNP	C	C	T			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr10:25464376C>T	ENST00000376351.3	+	1	386	c.27C>T	c.(25-27)ctC>ctT	p.L9L	GPR158-AS1_ENST00000449643.1_RNA	NM_020752.2	NP_065803.2	Q5T848	GP158_HUMAN	G protein-coupled receptor 158	9					protein localization to plasma membrane (GO:0072659)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						ACCCCTTACTCCTCTGCCTCC	0.602																																						ENST00000376351.3																			0				breast(5)|cervix(1)|endometrium(9)|kidney(10)|large_intestine(20)|lung(56)|ovary(4)|pancreas(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	119						c.(25-27)ctC>ctT		G protein-coupled receptor 158							34.0	39.0	38.0					10																	25464376		2202	4294	6496	SO:0001819	synonymous_variant	57512					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr10:25464376C>T	AB032962	CCDS31166.1	10p12.31	2012-08-21			ENSG00000151025	ENSG00000151025		"""GPCR / Class C : Orphans"""	23689	protein-coding gene	gene with protein product		614573					Standard	NM_020752		Approved	KIAA1136	uc001isj.3	Q5T848	OTTHUMG00000017832	ENST00000376351.3:c.27C>T	10.37:g.25464376C>T						GPR158-AS1_ENST00000449643.1_RNA	p.L9L	NM_020752.2	NP_065803.2	Q5T848	GP158_HUMAN			1	386	+			9					Q6QR81|Q9ULT3	Silent	SNP	ENST00000376351.3	37	c.27C>T	CCDS31166.1																																																																																				0.602	GPR158-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047248.2	XM_166110		44	118	0	0	0	1	0	44	118				
HS6ST3	266722	broad.mit.edu	37	13	97485339	97485339	+	Silent	SNP	C	C	A			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr13:97485339C>A	ENST00000376705.2	+	2	1327	c.1303C>A	c.(1303-1305)Cgg>Agg	p.R435R		NM_153456.3	NP_703157.2	Q8IZP7	H6ST3_HUMAN	heparan sulfate 6-O-sulfotransferase 3	435					heparan sulfate proteoglycan biosynthetic process, enzymatic modification (GO:0015015)	integral component of membrane (GO:0016021)	heparan sulfate 6-O-sulfotransferase activity (GO:0017095)			NS(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|skin(1)	20	all_neural(89;0.0878)|Medulloblastoma(90;0.163)					CCAGAAGCGGCGGGAGGAGCG	0.597																																						ENST00000376705.2																			0				NS(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|skin(1)	20						c.(1303-1305)Cgg>Agg		heparan sulfate 6-O-sulfotransferase 3							57.0	63.0	61.0					13																	97485339		2203	4300	6503	SO:0001819	synonymous_variant	266722					integral to membrane	sulfotransferase activity	g.chr13:97485339C>A	AF539426	CCDS9481.1	13q32.2	2007-12-04			ENSG00000185352	ENSG00000185352		"""Sulfotransferases, membrane-bound"""	19134	protein-coding gene	gene with protein product		609401					Standard	NM_153456		Approved		uc001vmw.4	Q8IZP7	OTTHUMG00000017232	ENST00000376705.2:c.1303C>A	13.37:g.97485339C>A							p.R435R	NM_153456.3	NP_703157.2	Q8IZP7	H6ST3_HUMAN			2	1327	+	all_neural(89;0.0878)|Medulloblastoma(90;0.163)		435					Q5W0L0|Q68CW6	Silent	SNP	ENST00000376705.2	37	c.1303C>A	CCDS9481.1																																																																																				0.597	HS6ST3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045517.2	NM_153456		96	121	1	0	1.16068e-44	1	1.62343e-44	96	121				
CTNNA1	1495	broad.mit.edu	37	5	138160345	138160345	+	Missense_Mutation	SNP	G	G	T			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr5:138160345G>T	ENST00000302763.7	+	6	805	c.715G>T	c.(715-717)Gcc>Tcc	p.A239S	CTNNA1_ENST00000355078.5_Missense_Mutation_p.A136S|CTNNA1_ENST00000518825.1_Missense_Mutation_p.A239S	NM_001903.2	NP_001894.2	P35221	CTNA1_HUMAN	catenin (cadherin-associated protein), alpha 1, 102kDa	239					adherens junction organization (GO:0034332)|aging (GO:0007568)|apical junction assembly (GO:0043297)|axon regeneration (GO:0031103)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cellular protein localization (GO:0034613)|cellular response to indole-3-methanol (GO:0071681)|epithelial cell-cell adhesion (GO:0090136)|establishment or maintenance of cell polarity (GO:0007163)|gap junction assembly (GO:0016264)|male gonad development (GO:0008584)|muscle cell differentiation (GO:0042692)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell motility (GO:2000146)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of integrin-mediated signaling pathway (GO:2001045)|negative regulation of neuroblast proliferation (GO:0007406)|odontogenesis of dentin-containing tooth (GO:0042475)|ovarian follicle development (GO:0001541)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of smoothened signaling pathway (GO:0045880)|protein heterooligomerization (GO:0051291)|response to estrogen (GO:0043627)	acrosomal vesicle (GO:0001669)|actin cytoskeleton (GO:0015629)|catenin complex (GO:0016342)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|intercalated disc (GO:0014704)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|zonula adherens (GO:0005915)	beta-catenin binding (GO:0008013)|cadherin binding (GO:0045296)|gamma-catenin binding (GO:0045295)|poly(A) RNA binding (GO:0044822)|structural molecule activity (GO:0005198)|vinculin binding (GO:0017166)			NS(1)|breast(7)|cervix(2)|endometrium(4)|kidney(6)|large_intestine(16)|lung(9)|oesophagus(2)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	52			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			AGCCTATAAGGCCAACAGGGA	0.567																																						ENST00000302763.7																			0				NS(1)|breast(7)|cervix(2)|endometrium(4)|kidney(6)|large_intestine(16)|lung(9)|oesophagus(2)|ovary(3)|prostate(1)|upper_aerodigestive_tract(1)	52						c.(715-717)Gcc>Tcc		catenin (cadherin-associated protein), alpha 1, 102kDa							78.0	75.0	76.0					5																	138160345		2203	4300	6503	SO:0001583	missense	1495				adherens junction organization|apical junction assembly|cell adhesion|cellular response to indole-3-methanol|muscle cell differentiation|positive regulation of muscle cell differentiation	actin cytoskeleton|catenin complex|cytosol	beta-catenin binding|cadherin binding|gamma-catenin binding|structural molecule activity|vinculin binding	g.chr5:138160345G>T	D13866	CCDS34243.1, CCDS75315.1	5q31.2	2008-02-05	2002-08-29			ENSG00000044115			2509	protein-coding gene	gene with protein product		116805	"""catenin (cadherin-associated protein), alpha 1 (102kD)"""			1924379	Standard	XM_005271898		Approved	CAP102	uc003ldh.3	P35221		ENST00000302763.7:c.715G>T	5.37:g.138160345G>T	ENSP00000304669:p.Ala239Ser					CTNNA1_ENST00000518825.1_Missense_Mutation_p.A239S|CTNNA1_ENST00000355078.5_Missense_Mutation_p.A136S	p.A239S	NM_001903.2	NP_001894.2	P35221	CTNA1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)		6	805	+			239					Q12795|Q8N1C0	Missense_Mutation	SNP	ENST00000302763.7	37	c.715G>T	CCDS34243.1	.	.	.	.	.	.	.	.	.	.	G	22.2	4.261377	0.80246	.	.	ENSG00000044115	ENST00000355078;ENST00000302763;ENST00000518910;ENST00000537034;ENST00000541863;ENST00000518825	T;T;T;T	0.44482	0.92;0.92;0.92;0.92	5.59	5.59	0.84812	.	0.000000	0.85682	D	0.000000	T	0.53610	0.1807	M	0.75264	2.295	0.80722	D	1	P;B	0.35745	0.518;0.048	B;B	0.43950	0.437;0.308	T	0.46898	-0.9158	10	0.19147	T	0.46	-11.0629	19.1866	0.93647	0.0:0.0:1.0:0.0	.	239;239	G3XAM7;P35221	.;CTNA1_HUMAN	S	136;239;136;239;224;239	ENSP00000347190:A136S;ENSP00000304669:A239S;ENSP00000430626:A136S;ENSP00000427821:A239S	ENSP00000304669:A239S	A	+	1	0	CTNNA1	138188244	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.813000	0.99286	2.636000	0.89361	0.491000	0.48974	GCC		0.567	CTNNA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373868.1	NM_001903		60	91	1	0	1.93748e-29	1	2.53591e-29	60	91				
KRTAP5-1	387264	broad.mit.edu	37	11	1606258	1606258	+	Silent	SNP	G	G	T			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr11:1606258G>T	ENST00000382171.2	-	1	255	c.222C>A	c.(220-222)ggC>ggA	p.G74G	KRTAP5-AS1_ENST00000534077.1_RNA|KRTAP5-AS1_ENST00000424148.1_RNA|KRTAP5-AS1_ENST00000524947.1_RNA|KRTAP5-AS1_ENST00000532922.1_RNA	NM_001005922.1	NP_001005922.1	Q6L8H4	KRA51_HUMAN	keratin associated protein 5-1	74	8 X 4 AA repeats of C-C-X-P.					keratin filament (GO:0045095)				endometrium(3)|kidney(1)|lung(9)|skin(2)|upper_aerodigestive_tract(1)	16		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		CCCCCTTGGAGCCCCCAGAAG	0.677																																						ENST00000382171.2																			0				endometrium(3)|kidney(1)|lung(9)|skin(2)|upper_aerodigestive_tract(1)	16						c.(220-222)ggC>ggA		keratin associated protein 5-1							63.0	81.0	75.0					11																	1606258		2202	4298	6500	SO:0001819	synonymous_variant	387264					keratin filament		g.chr11:1606258G>T	AB126070	CCDS31330.1	11p15.5	2008-02-05			ENSG00000205869	ENSG00000205869		"""Keratin associated proteins"""	23596	protein-coding gene	gene with protein product		148022	"""keratin, cuticle, ultrahigh sulphur 1-like"""	KRN1L		15144888	Standard	NM_001005922		Approved	KRTAP5.1	uc001ltu.1	Q6L8H4	OTTHUMG00000057557	ENST00000382171.2:c.222C>A	11.37:g.1606258G>T						KRTAP5-AS1_ENST00000424148.1_RNA|KRTAP5-AS1_ENST00000532922.1_RNA|KRTAP5-AS1_ENST00000524947.1_RNA|KRTAP5-AS1_ENST00000534077.1_RNA	p.G74G	NM_001005922.1	NP_001005922.1	Q6L8H4	KRA51_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)	1	255	-		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	74			8 X 4 AA repeats of C-C-X-P.			Silent	SNP	ENST00000382171.2	37	c.222C>A	CCDS31330.1																																																																																				0.677	KRTAP5-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127922.1	NM_001005922		94	325	1	0	9.17388e-59	1	1.34466e-58	94	325				
KRT6C	286887	broad.mit.edu	37	12	52864970	52864970	+	Nonsense_Mutation	SNP	G	G	C	rs11540289	byFrequency	TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr12:52864970G>C	ENST00000252250.6	-	5	1070	c.1023C>G	c.(1021-1023)taC>taG	p.Y341*		NM_173086.4	NP_775109.2	P48668	K2C6C_HUMAN	keratin 6C	341	Coil 2.|Rod.				intermediate filament cytoskeleton organization (GO:0045104)	extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|prostate(2)|skin(2)	23				BRCA - Breast invasive adenocarcinoma(357;0.0828)		CAATCTCCTCGTATTGGGCCT	0.572																																						ENST00000252250.6																			0				cervix(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|prostate(2)|skin(2)	23						c.(1021-1023)taC>taG		keratin 6C							217.0	204.0	208.0					12																	52864970		2203	4300	6503	SO:0001587	stop_gained	286887				cytoskeleton organization	keratin filament	structural molecule activity	g.chr12:52864970G>C	L42611	CCDS8829.1	12q13.13	2013-01-16	2006-07-17	2006-07-17	ENSG00000170465	ENSG00000170465		"""-"", ""Intermediate filaments type II, keratins (basic)"""	20406	protein-coding gene	gene with protein product		612315	"""keratin 6E"""	KRT6E		7543104, 16831889	Standard	NM_173086		Approved		uc001sal.4	P48668	OTTHUMG00000169596	ENST00000252250.6:c.1023C>G	12.37:g.52864970G>C	ENSP00000252250:p.Tyr341*						p.Y341*	NM_173086.4	NP_775109.2	P48668	K2C6C_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.0828)	5	1070	-			341			Coil 2.|Rod.		A1L4L5|P48666|Q2TAZ9|Q7RTN9	Nonsense_Mutation	SNP	ENST00000252250.6	37	c.1023C>G	CCDS8829.1	.	.	.	.	.	.	.	.	.	.	A	16.71	3.197843	0.58126	.	.	ENSG00000170465	ENST00000252250;ENST00000411979	.	.	.	3.46	-1.87	0.07737	.	0.000000	0.53938	D	0.000048	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	11.2508	0.49024	0.6264:0.0:0.3736:0.0	.	.	.	.	X	341;326	.	ENSP00000252250:Y341X	Y	-	3	2	KRT6C	51151237	0.002000	0.14202	0.930000	0.37139	0.409000	0.31022	-1.026000	0.03596	-0.929000	0.03757	-2.656000	0.00147	TAC		0.572	KRT6C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404976.1	NM_173086		282	414	0	0	0	1	0	282	414				
OLFM4	10562	broad.mit.edu	37	13	53603068	53603068	+	Missense_Mutation	SNP	G	G	T			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr13:53603068G>T	ENST00000219022.2	+	1	175	c.97G>T	c.(97-99)Ggc>Tgc	p.G33C		NM_006418.4	NP_006409.3	Q6UX06	OLFM4_HUMAN	olfactomedin 4	33	Ser-rich.				cell adhesion (GO:0007155)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of immune response (GO:0050777)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|protein homooligomerization (GO:0051260)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|specific granule (GO:0042581)	cadherin binding (GO:0045296)|catalytic activity (GO:0003824)|protein homodimerization activity (GO:0042803)			breast(2)|endometrium(4)|kidney(4)|large_intestine(5)|lung(20)|skin(3)|urinary_tract(1)	39		Breast(56;0.000776)|Lung NSC(96;0.000814)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;3.13e-08)		TCCCAGCCCCGGCTTCAGCTC	0.607																																						ENST00000219022.2																			0				breast(2)|endometrium(4)|kidney(4)|large_intestine(5)|lung(20)|skin(3)|urinary_tract(1)	39						c.(97-99)Ggc>Tgc		olfactomedin 4							97.0	103.0	101.0					13																	53603068		2203	4300	6503	SO:0001583	missense	10562				cell adhesion	extracellular space		g.chr13:53603068G>T	AY358567	CCDS9440.1	13q14	2004-06-25			ENSG00000102837	ENSG00000102837			17190	protein-coding gene	gene with protein product		614061					Standard	NM_006418		Approved	OlfD, GW112, GC1	uc001vhl.3	Q6UX06	OTTHUMG00000016981	ENST00000219022.2:c.97G>T	13.37:g.53603068G>T	ENSP00000219022:p.Gly33Cys						p.G33C	NM_006418.4	NP_006409.3	Q6UX06	OLFM4_HUMAN		GBM - Glioblastoma multiforme(99;3.13e-08)	1	175	+		Breast(56;0.000776)|Lung NSC(96;0.000814)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)	33			Ser-rich.		O95362|Q5VWG0|Q86T22	Missense_Mutation	SNP	ENST00000219022.2	37	c.97G>T	CCDS9440.1	.	.	.	.	.	.	.	.	.	.	G	7.311	0.615052	0.14129	.	.	ENSG00000102837	ENST00000219022	D	0.90504	-2.68	2.95	-3.34	0.04943	.	8.335120	0.00166	N	0.000003	T	0.81293	0.4792	N	0.08118	0	0.09310	N	1	B	0.26845	0.161	B	0.28232	0.087	T	0.71859	-0.4465	10	0.54805	T	0.06	.	8.5344	0.33355	0.4721:0.0:0.5279:0.0	.	33	Q6UX06	OLFM4_HUMAN	C	33	ENSP00000219022:G33C	ENSP00000219022:G33C	G	+	1	0	OLFM4	52501069	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.114000	0.01329	-0.861000	0.04094	-1.728000	0.00702	GGC		0.607	OLFM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045112.2	NM_006418		150	193	1	0	8.57268e-76	1	1.28741e-75	150	193				
SRGAP2	23380	broad.mit.edu	37	1	206610339	206610339	+	Missense_Mutation	SNP	G	G	T			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr1:206610339G>T	ENST00000414007.1	+	11	1160	c.1160G>T	c.(1159-1161)cGg>cTg	p.R387L	SRGAP2_ENST00000419187.2_5'UTR			O75044	SRGP2_HUMAN	SLIT-ROBO Rho GTPase activating protein 2	527	F-BAR domain.				actin filament severing (GO:0051014)|axon guidance (GO:0007411)|dendritic spine development (GO:0060996)|extension of a leading process involved in cell motility in cerebral cortex radial glia guided migration (GO:0021816)|filopodium assembly (GO:0046847)|lamellipodium assembly involved in ameboidal cell migration (GO:0003363)|negative regulation of neuron migration (GO:2001223)|neuron projection morphogenesis (GO:0048812)|positive regulation of Rac GTPase activity (GO:0032855)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|substrate adhesion-dependent cell spreading (GO:0034446)	cell junction (GO:0030054)|cytosol (GO:0005829)|dendritic spine head (GO:0044327)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)	protein homodimerization activity (GO:0042803)|Rac GTPase activator activity (GO:0030675)|Rac GTPase binding (GO:0048365)	p.R387L(1)		NS(1)|breast(1)|kidney(1)|lung(1)	4	Breast(84;0.137)					GGAATTTTCCGGGTGTCAGGA	0.403																																						ENST00000414007.1																			1	Substitution - Missense(1)	p.R387L(1)	lung(1)	NS(1)|breast(1)|kidney(1)|lung(1)	4						c.(1159-1161)cGg>cTg		SLIT-ROBO Rho GTPase activating protein 2							156.0	155.0	156.0					1																	206610339		2040	4233	6273	SO:0001583	missense	23380				axon guidance|regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity|protein binding	g.chr1:206610339G>T	AB007925	CCDS73017.1	1q32.1	2014-08-13	2004-11-12	2004-11-12	ENSG00000163486	ENSG00000266028		"""Rho GTPase activating proteins"""	19751	protein-coding gene	gene with protein product		606524	"""formin binding protein 2"""	FNBP2		15046868, 11672528	Standard	XM_005277510		Approved	KIAA0456, ARHGAP34, SRGAP2A	uc001hdy.3	O75044	OTTHUMG00000184381	ENST00000414007.1:c.1160G>T	1.37:g.206610339G>T	ENSP00000390898:p.Arg387Leu					SRGAP2_ENST00000419187.2_5'UTR	p.R387L			O75044	FNBP2_HUMAN			11	1160	+	Breast(84;0.137)		527						Missense_Mutation	SNP	ENST00000414007.1	37	c.1160G>T		.	.	.	.	.	.	.	.	.	.	G	35	5.420850	0.96111	.	.	ENSG00000163486	ENST00000414359;ENST00000414007;ENST00000439126	T;T	0.52526	0.66;0.66	5.66	5.66	0.87406	Rho GTPase-activating protein domain (4);Rho GTPase activation protein (1);	0.000000	0.85682	D	0.000000	T	0.72669	0.3489	.	.	.	0.80722	D	1.000000	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.75502	-0.3295	8	0.87932	D	0	.	19.7538	0.96281	0.0:0.0:1.0:0.0	.	374;527	B4DDU0;O75044	.;FNBP2_HUMAN	L	440;387;141	ENSP00000390898:R387L;ENSP00000403036:R141L	ENSP00000390898:R387L	R	+	2	0	SRGAP2	204676962	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	9.869000	0.99810	2.690000	0.91761	0.655000	0.94253	CGG		0.403	SRGAP2-201	KNOWN	basic	protein_coding	protein_coding		NM_015326		96	167	1	0	1.39607e-43	1	1.93999e-43	96	167				
SYNE1	23345	broad.mit.edu	37	6	152655151	152655151	+	Missense_Mutation	SNP	G	G	T			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr6:152655151G>T	ENST00000367255.5	-	77	13387	c.12786C>A	c.(12784-12786)aaC>aaA	p.N4262K	SYNE1_ENST00000265368.4_Missense_Mutation_p.N4262K|SYNE1_ENST00000448038.1_Missense_Mutation_p.N4191K|SYNE1_ENST00000341594.5_Missense_Mutation_p.N4127K|SYNE1_ENST00000423061.1_Missense_Mutation_p.N4191K	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	spectrin repeat containing, nuclear envelope 1	4262					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)		ACCTGGCCAAGTTATCCCATT	0.388										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.(12784-12786)aaC>aaA		spectrin repeat containing, nuclear envelope 1							120.0	126.0	124.0					6																	152655151		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.chr6:152655151G>T	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.12786C>A	6.37:g.152655151G>T	ENSP00000356224:p.Asn4262Lys	HNSCC(10;0.0054)				SYNE1_ENST00000423061.1_Missense_Mutation_p.N4191K|SYNE1_ENST00000341594.5_Missense_Mutation_p.N4127K|SYNE1_ENST00000265368.4_Missense_Mutation_p.N4262K|SYNE1_ENST00000448038.1_Missense_Mutation_p.N4191K	p.N4262K	NM_182961.3	NP_892006.3	Q8NF91	SYNE1_HUMAN	BRCA - Breast invasive adenocarcinoma(37;0.243)	OV - Ovarian serous cystadenocarcinoma(155;2.24e-10)	77	13387	-		Ovarian(120;0.0955)	4262					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.12786C>A	CCDS5236.2	.	.	.	.	.	.	.	.	.	.	G	11.70	1.715339	0.30413	.	.	ENSG00000131018	ENST00000367255;ENST00000423061;ENST00000265368;ENST00000448038;ENST00000341594	T;T;T;T;T	0.34472	1.36;1.36;1.36;1.36;1.36	5.7	3.84	0.44239	.	0.265473	0.32473	N	0.006054	T	0.12860	0.0312	L	0.33485	1.01	0.80722	D	1	B;B;B;B	0.11235	0.004;0.002;0.002;0.004	B;B;B;B	0.11329	0.004;0.003;0.003;0.006	T	0.03278	-1.1053	10	0.10902	T	0.67	.	13.7801	0.63077	0.0:0.1166:0.763:0.1204	.	4262;4262;4262;4191	Q8NF91-7;Q8NF91;E7EQI5;Q8NF91-4	.;SYNE1_HUMAN;.;.	K	4262;4191;4262;4191;4127	ENSP00000356224:N4262K;ENSP00000396024:N4191K;ENSP00000265368:N4262K;ENSP00000390975:N4191K;ENSP00000341887:N4127K	ENSP00000265368:N4262K	N	-	3	2	SYNE1	152696844	1.000000	0.71417	0.997000	0.53966	0.996000	0.88848	1.632000	0.37102	2.705000	0.92388	0.650000	0.86243	AAC		0.388	SYNE1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334755.2	NM_182961		128	231	1	0	9.27386e-72	1	1.383e-71	128	231				
USP8	9101	broad.mit.edu	37	15	50788043	50788043	+	Splice_Site	SNP	A	A	T			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr15:50788043A>T	ENST00000396444.3	+	17	2996		c.e17-1		USP8_ENST00000433963.1_Splice_Site|RP11-562A8.4_ENST00000560380.1_RNA|USP8_ENST00000307179.4_Splice_Site|RP11-562A8.5_ENST00000560159.1_lincRNA|USP8_ENST00000425032.3_Splice_Site	NM_001128610.1|NM_005154.3	NP_001122082.1|NP_005145.3	P40818	UBP8_HUMAN	ubiquitin specific peptidase 8						cell proliferation (GO:0008283)|endosome organization (GO:0007032)|mitotic cytokinesis (GO:0000281)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)|Ras protein signal transduction (GO:0007265)|ubiquitin-dependent protein catabolic process (GO:0006511)	acrosomal vesicle (GO:0001669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|extrinsic component of plasma membrane (GO:0019897)|midbody (GO:0030496)|nucleus (GO:0005634)	cysteine-type endopeptidase activity (GO:0004197)|ubiquitin-specific protease activity (GO:0004843)			central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35				all cancers(107;0.000225)|GBM - Glioblastoma multiforme(94;0.000771)		TTTTATTTCCAGGCTGATAAT	0.323																																						ENST00000433963.1																			0				central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(16)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35						c.e18-1		ubiquitin specific peptidase 8							20.0	20.0	20.0					15																	50788043		2196	4263	6459	SO:0001630	splice_region_variant	9101				cell cycle|cell proliferation|endosome organization|protein K48-linked deubiquitination|protein K63-linked deubiquitination|ubiquitin-dependent protein catabolic process	cytosol|early endosome|extrinsic to plasma membrane|nucleus	cysteine-type endopeptidase activity|SH3 domain binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr15:50788043A>T	D29956	CCDS10137.1, CCDS61632.1	15q21.1	2014-03-03	2005-08-08		ENSG00000138592	ENSG00000138592		"""Ubiquitin-specific peptidases"""	12631	protein-coding gene	gene with protein product		603158	"""ubiquitin specific protease 8"""			12838346, 9582025, 24482476	Standard	NM_005154		Approved	HumORF8, KIAA0055, UBPY, SPG59	uc001zyl.4	P40818	OTTHUMG00000131645	ENST00000396444.3:c.2659-1A>T	15.37:g.50788043A>T						USP8_ENST00000396444.3_Splice_Site|USP8_ENST00000425032.3_Splice_Site|USP8_ENST00000307179.4_Splice_Site|RP11-562A8.5_ENST00000560159.1_lincRNA		NM_001128611.1	NP_001122083.1	P40818	UBP8_HUMAN		all cancers(107;0.000225)|GBM - Glioblastoma multiforme(94;0.000771)	18	3158	+								B4DKA8|Q2TB31|Q7Z3U2|Q86VA0|Q8IWI7	Splice_Site	SNP	ENST00000396444.3	37		CCDS10137.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	18.28|18.28	3.589187|3.589187	0.66105|0.66105	.|.	.|.	ENSG00000138592|ENSG00000138592	ENST00000396444;ENST00000433963;ENST00000307179;ENST00000425032|ENST00000419830;ENST00000396440	.|.	.|.	.|.	4.7|4.7	4.7|4.7	0.59300|0.59300	.|.	.|.	.|.	.|.	.|.	.|T	.|0.69342	.|0.3100	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.68530	.|-0.5384	.|5	.|0.36615	.|T	.|0.2	.|.	14.6253|14.6253	0.68616|0.68616	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|.	.|.	.|.	.|L	-1|113;108	.|.	.|ENSP00000379717:Q108L	.|Q	+|+	.|2	.|0	USP8|USP8	48575335|48575335	1.000000|1.000000	0.71417|0.71417	0.956000|0.956000	0.39512|0.39512	0.859000|0.859000	0.49053|0.49053	8.935000|8.935000	0.92923|0.92923	2.099000|2.099000	0.63709|0.63709	0.528000|0.528000	0.53228|0.53228	.|CAG		0.323	USP8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254541.1	NM_005154	Intron	25	27	0	0	0	1	0	25	27				
RYR2	6262	broad.mit.edu	37	1	237711838	237711838	+	Missense_Mutation	SNP	A	A	T			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr1:237711838A>T	ENST00000366574.2	+	26	3331	c.3014A>T	c.(3013-3015)aAt>aTt	p.N1005I	RYR2_ENST00000542537.1_Missense_Mutation_p.N989I|RYR2_ENST00000360064.6_Missense_Mutation_p.N1003I	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	1005	4 X approximate repeats.				BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			AATGCACATAATGTGTGGGCG	0.483																																						ENST00000366574.2																			0				NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586						c.(3013-3015)aAt>aTt		ryanodine receptor 2 (cardiac)							66.0	63.0	64.0					1																	237711838		1935	4142	6077	SO:0001583	missense	6262				cardiac muscle contraction|detection of calcium ion|induction of apoptosis by ionic changes|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum|response to caffeine|response to hypoxia|response to redox state	calcium channel complex|cytosol|plasma membrane|plasma membrane enriched fraction|sarcoplasmic reticulum membrane	calcium ion binding|calmodulin binding|identical protein binding|protein kinase A catalytic subunit binding|protein kinase A regulatory subunit binding|receptor activity|ryanodine-sensitive calcium-release channel activity|suramin binding	g.chr1:237711838A>T	X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.3014A>T	1.37:g.237711838A>T	ENSP00000355533:p.Asn1005Ile					RYR2_ENST00000542537.1_Missense_Mutation_p.N989I|RYR2_ENST00000360064.6_Missense_Mutation_p.N1003I	p.N1005I	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		26	3331	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	1005			4 X approximate repeats.		Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	c.3014A>T	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	A	19.20	3.782060	0.70222	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537	D;D;D	0.92699	-3.09;-3.09;-3.09	5.73	4.6	0.57074	Ryanodine receptor Ryr (1);	0.000000	0.64402	D	0.000002	D	0.92877	0.7734	M	0.88031	2.925	0.80722	D	1	B	0.21225	0.053	B	0.23574	0.047	D	0.90710	0.4627	10	0.87932	D	0	.	12.4798	0.55836	0.8745:0.0:0.0:0.1255	.	1005	Q92736	RYR2_HUMAN	I	1005;1003;989	ENSP00000355533:N1005I;ENSP00000353174:N1003I;ENSP00000443798:N989I	ENSP00000353174:N1003I	N	+	2	0	RYR2	235778461	1.000000	0.71417	0.874000	0.34290	0.515000	0.34225	9.127000	0.94417	1.078000	0.41014	0.533000	0.62120	AAT		0.483	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		15	64	0	0	0	1	0	15	64				
SLC22A16	85413	broad.mit.edu	37	6	110778023	110778023	+	Missense_Mutation	SNP	T	T	C			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr6:110778023T>C	ENST00000368919.3	-	2	317	c.251A>G	c.(250-252)gAt>gGt	p.D84G	SLC22A16_ENST00000330550.4_Intron|SLC22A16_ENST00000461487.1_5'UTR|SLC22A16_ENST00000456137.2_Missense_Mutation_p.D84G|SLC22A16_ENST00000439654.1_Missense_Mutation_p.D84G	NM_033125.3	NP_149116.2	Q86VW1	S22AG_HUMAN	solute carrier family 22 (organic cation/carnitine transporter), member 16	84					acid secretion (GO:0046717)|amine transport (GO:0015837)|carnitine transmembrane transport (GO:1902603)|carnitine transport (GO:0015879)|cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|organic cation transport (GO:0015695)|single fertilization (GO:0007338)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	amine transmembrane transporter activity (GO:0005275)|carnitine transmembrane transporter activity (GO:0015226)|organic cation transmembrane transporter activity (GO:0015101)			breast(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	34		all_cancers(87;0.00221)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.0485)|Colorectal(196;0.101)		OV - Ovarian serous cystadenocarcinoma(136;0.0513)|Epithelial(106;0.0921)|all cancers(137;0.115)	Doxorubicin(DB00997)|L-Carnitine(DB00583)	CGTAACATAATCTTTCTGGCC	0.493																																						ENST00000368919.3																			0				breast(1)|endometrium(1)|kidney(3)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	34						c.(250-252)gAt>gGt		solute carrier family 22 (organic cation/carnitine transporter), member 16							167.0	171.0	170.0					6																	110778023		2203	4300	6503	SO:0001583	missense	85413				acid secretion|cell differentiation|multicellular organismal development|single fertilization|sperm motility|spermatogenesis	integral to membrane	carnitine transporter activity	g.chr6:110778023T>C		CCDS5084.1	6q21	2013-05-22	2008-01-11		ENSG00000004809	ENSG00000004809		"""Solute carriers"""	20302	protein-coding gene	gene with protein product		608276	"""solute carrier family 22 (organic cation transporter), member 16"""			12372408, 12089149, 17473959	Standard	NM_033125		Approved	FLIPT2, CT2, OKB1, OAT6	uc003puf.3	Q86VW1	OTTHUMG00000016171	ENST00000368919.3:c.251A>G	6.37:g.110778023T>C	ENSP00000357915:p.Asp84Gly					SLC22A16_ENST00000456137.2_Missense_Mutation_p.D84G|SLC22A16_ENST00000330550.4_Intron|SLC22A16_ENST00000461487.1_5'UTR|SLC22A16_ENST00000439654.1_Missense_Mutation_p.D84G	p.D84G	NM_033125.3	NP_149116.2	Q86VW1	S22AG_HUMAN		OV - Ovarian serous cystadenocarcinoma(136;0.0513)|Epithelial(106;0.0921)|all cancers(137;0.115)	2	317	-		all_cancers(87;0.00221)|Acute lymphoblastic leukemia(125;2.27e-07)|all_hematologic(75;1.38e-05)|all_epithelial(87;0.0485)|Colorectal(196;0.101)	84					O14567|Q5JXM1|Q8IUG8|Q8IZD5|Q96M90|Q96RU0	Missense_Mutation	SNP	ENST00000368919.3	37	c.251A>G	CCDS5084.1	.	.	.	.	.	.	.	.	.	.	T	11.16	1.558017	0.27827	.	.	ENSG00000004809	ENST00000368919;ENST00000451557;ENST00000439654;ENST00000437378;ENST00000456137;ENST00000424139	T;T;T;T;T;T	0.74526	-0.1;-0.85;-0.1;-0.1;-0.1;-0.1	4.91	2.47	0.30058	.	5.715550	0.01221	U	0.008107	T	0.47911	0.1471	L	0.48642	1.525	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.13282	-1.0515	10	0.23302	T	0.38	.	8.3534	0.32316	0.0:0.2252:0.0:0.7748	.	84	Q86VW1	S22AG_HUMAN	G	84;1;84;41;84;41	ENSP00000357915:D84G;ENSP00000395642:D1G;ENSP00000408799:D84G;ENSP00000416310:D41G;ENSP00000402111:D84G;ENSP00000401007:D41G	ENSP00000357915:D84G	D	-	2	0	SLC22A16	110884716	0.104000	0.21937	0.003000	0.11579	0.019000	0.09904	2.689000	0.46993	0.248000	0.21435	0.460000	0.39030	GAT		0.493	SLC22A16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043428.1	NM_033125		92	323	0	0	0	1	0	92	323				
LOC101927079	101927079	broad.mit.edu	37	15	22332432	22332432	+	RNA	SNP	C	C	T	rs376977769		TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr15:22332432C>T	ENST00000558896.1	+	0	239																											AAGATTCTAACGTGACAGAAC	0.343																																						ENST00000558896.1																			0																																																			101927079							g.chr15:22332432C>T																													15.37:g.22332432C>T														0	239	+									RNA	SNP	ENST00000558896.1	37																																																																																						0.343	RP11-69H14.6-001	KNOWN	basic	sense_overlapping	sense_overlapping	OTTHUMT00000417625.1			12	160	0	0	0	1	0	12	160				
DLG2	1740	broad.mit.edu	37	11	84028057	84028057	+	Silent	SNP	G	G	C			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr11:84028057G>C	ENST00000398301.2	-	1	325	c.132C>G	c.(130-132)ctC>ctG	p.L44L	DLG2_ENST00000543673.1_Intron|DLG2_ENST00000280241.8_Silent_p.L44L|DLG2_ENST00000398309.2_Intron|DLG2_ENST00000376104.2_Intron|DLG2_ENST00000524982.1_Intron|DLG2_ENST00000532653.1_Intron			Q14168	MPP2_HUMAN	discs, large homolog 2 (Drosophila)	300	L27 1. {ECO:0000255|PROSITE- ProRule:PRU00365}.				nucleotide phosphorylation (GO:0046939)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	guanylate kinase activity (GO:0004385)			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(11)|lung(35)|ovary(3)|pancreas(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	71		all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036)				AACTGTACCCGAGCCCCTGAC	0.642																																						ENST00000280241.8																			0				breast(1)|central_nervous_system(1)|endometrium(8)|kidney(3)|large_intestine(11)|lung(35)|ovary(3)|pancreas(2)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	71						c.(130-132)ctC>ctG		discs, large homolog 2 (Drosophila)							170.0	166.0	167.0					11																	84028057		876	1990	2866	SO:0001819	synonymous_variant	1740					cell junction|postsynaptic density|postsynaptic membrane	guanylate kinase activity|protein binding	g.chr11:84028057G>C	U32376	CCDS41696.1, CCDS44690.1, CCDS44691.1, CCDS44692.1, CCDS55782.1, CCDS73357.1	11q21	2012-04-17	2008-12-15		ENSG00000150672	ENSG00000150672		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	2901	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 58"""	603583	"""discs, large homolog 2, chapsyn-110 (Drosophila)"""			8755482, 9806853	Standard	NM_001142702		Approved	PSD-93, PSD93, chapsyn-110, PPP1R58	uc001pak.2	Q15700	OTTHUMG00000134309	ENST00000398301.2:c.132C>G	11.37:g.84028057G>C						DLG2_ENST00000398301.2_Silent_p.L44L|DLG2_ENST00000398309.2_Intron|DLG2_ENST00000543673.1_Intron|DLG2_ENST00000532653.1_Intron|DLG2_ENST00000524982.1_Intron|DLG2_ENST00000376104.2_Intron	p.L44L	NM_001206769.1	NP_001193698.1	Q15700	DLG2_HUMAN			1	131	-		all_cancers(6;0.00791)|Acute lymphoblastic leukemia(157;4.44e-05)|all_hematologic(158;0.0036)	0					B4DGE9|B4DRJ0|B7Z3G8|E7EV80|E7EV91|E7EX01|Q53ES9|Q5CZB9|Q9BQJ2	Silent	SNP	ENST00000398301.2	37	c.132C>G																																																																																					0.642	DLG2-002	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000259244.2	NM_001364		62	276	0	0	0	1	0	62	276				
USH2A	7399	broad.mit.edu	37	1	216371758	216371758	+	Missense_Mutation	SNP	G	G	T			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr1:216371758G>T	ENST00000307340.3	-	18	4366	c.3980C>A	c.(3979-3981)aCt>aAt	p.T1327N	RP5-1099E6.3_ENST00000420867.1_RNA|USH2A_ENST00000366943.2_Missense_Mutation_p.T1327N|USH2A_ENST00000366942.3_Missense_Mutation_p.T1327N	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	1327	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		CTCCAAGCCAGTGATGGTTGT	0.448										HNSCC(13;0.011)																												ENST00000366943.2																			0				NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527						c.(3979-3981)aCt>aAt		Usher syndrome 2A (autosomal recessive, mild)							139.0	129.0	132.0					1																	216371758		2203	4300	6503	SO:0001583	missense	7399				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	g.chr1:216371758G>T	AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"""Fibronectin type III domain containing"""	12601	protein-coding gene	gene with protein product	"""usherin"""	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.3980C>A	1.37:g.216371758G>T	ENSP00000305941:p.Thr1327Asn	HNSCC(13;0.011)				USH2A_ENST00000366942.3_Missense_Mutation_p.T1327N|USH2A_ENST00000307340.3_Missense_Mutation_p.T1327N|RP5-1099E6.3_ENST00000420867.1_RNA	p.T1327N			O75445	USH2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	18	4366	-			1327			Fibronectin type-III 3.		Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	ENST00000307340.3	37	c.3980C>A	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	G	7.842	0.722131	0.15372	.	.	ENSG00000042781	ENST00000307340;ENST00000366943;ENST00000366942	T;T;T	0.58797	0.31;0.31;0.31	5.15	4.21	0.49690	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.336489	0.21385	N	0.075404	T	0.51805	0.1696	L	0.59912	1.85	0.22457	N	0.999089	B;B	0.25772	0.134;0.065	B;B	0.23275	0.045;0.033	T	0.47071	-0.9145	10	0.44086	T	0.13	.	10.6828	0.45823	0.0733:0.1327:0.794:0.0	.	1327;1327	O75445-2;O75445	.;USH2A_HUMAN	N	1327	ENSP00000305941:T1327N;ENSP00000355910:T1327N;ENSP00000355909:T1327N	ENSP00000305941:T1327N	T	-	2	0	USH2A	214438381	0.040000	0.19996	0.918000	0.36340	0.437000	0.31866	0.531000	0.23052	1.126000	0.42016	0.650000	0.86243	ACT		0.448	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		84	149	1	0	3.23364e-46	1	4.53769e-46	84	149				
FNTB	2342	broad.mit.edu	37	14	65511078	65511078	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr14:65511078G>A	ENST00000246166.2	+	9	1106	c.872G>A	c.(871-873)cGc>cAc	p.R291H	FNTB_ENST00000447296.2_Missense_Mutation_p.R325H|MIR4706_ENST00000582134.1_RNA|FNTB_ENST00000542227.1_Missense_Mutation_p.R245H|MAX_ENST00000341653.2_Intron|CHURC1-FNTB_ENST00000549987.1_Missense_Mutation_p.R326H	NM_002028.3	NP_002019.1	P49356	FNTB_HUMAN	farnesyltransferase, CAAX box, beta	291	Farnesyl diphosphate binding.				negative regulation of cell proliferation (GO:0008285)|phototransduction, visible light (GO:0007603)|positive regulation of cell cycle (GO:0045787)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|protein farnesylation (GO:0018343)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|response to cytokine (GO:0034097)|response to inorganic substance (GO:0010035)|response to organic cyclic compound (GO:0014070)|rhodopsin mediated signaling pathway (GO:0016056)|wound healing (GO:0042060)	cytosol (GO:0005829)|microtubule associated complex (GO:0005875)|protein farnesyltransferase complex (GO:0005965)	farnesyltranstransferase activity (GO:0004311)|protein farnesyltransferase activity (GO:0004660)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(2)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	14				all cancers(60;0.00115)|OV - Ovarian serous cystadenocarcinoma(108;0.00412)|BRCA - Breast invasive adenocarcinoma(234;0.011)		TTTCAGGGCCGCTGCAACAAG	0.592																																						ENST00000246166.2																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(2)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	14						c.(871-873)cGc>cAc		farnesyltransferase, CAAX box, beta							127.0	125.0	125.0					14																	65511078		2203	4300	6503	SO:0001583	missense	2342							g.chr14:65511078G>A		CCDS9769.1	14q23.3	2011-09-28			ENSG00000257365	ENSG00000257365			3785	protein-coding gene	gene with protein product		134636				8276393	Standard	NM_002028		Approved	FPTB		P49356	OTTHUMG00000142811	ENST00000246166.2:c.872G>A	14.37:g.65511078G>A	ENSP00000246166:p.Arg291His					CHURC1-FNTB_ENST00000448390.2_Missense_Mutation_p.R47H|CHURC1-FNTB_ENST00000447296.2_Missense_Mutation_p.R325H|CHURC1-FNTB_ENST00000542227.1_Missense_Mutation_p.R245H|MAX_ENST00000341653.2_Intron	p.R291H	NM_002028.3	NP_002019.1				all cancers(60;0.00115)|OV - Ovarian serous cystadenocarcinoma(108;0.00412)|BRCA - Breast invasive adenocarcinoma(234;0.011)	9	1106	+								B2RDX6|B4E1A0	Missense_Mutation	SNP	ENST00000246166.2	37	c.872G>A	CCDS9769.1	.	.	.	.	.	.	.	.	.	.	G	36	5.687693	0.96784	.	.	ENSG00000125954;ENSG00000125954;ENSG00000125954;ENSG00000125954;ENSG00000257365	ENST00000542227;ENST00000549987;ENST00000447296;ENST00000448390;ENST00000246166	D;D;D;D;D	0.95447	-3.71;-3.71;-3.71;-3.71;-3.71	5.28	5.28	0.74379	Terpenoid cylases/protein prenyltransferase alpha-alpha toroid (1);	0.000000	0.85682	D	0.000000	D	0.99013	0.9663	H	0.99855	4.85	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	D	0.98832	1.0751	10	0.87932	D	0	-32.489	17.83	0.88679	0.0:0.0:1.0:0.0	.	294;245;325;291	Q86TX8;B4E1A0;B4DL54;P49356	.;.;.;FNTB_HUMAN	H	245;326;325;47;291	ENSP00000443140:R245H;ENSP00000447121:R326H;ENSP00000406393:R325H;ENSP00000399362:R47H;ENSP00000246166:R291H	ENSP00000246166:R291H	R	+	2	0	FNTB;AL139022.1	64580831	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.594000	0.98254	2.744000	0.94065	0.609000	0.83330	CGC		0.592	FNTB-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000286392.1	NM_002028		31	373	0	0	0	1	0	31	373				
RAB3GAP1	22930	broad.mit.edu	37	2	135893466	135893466	+	Silent	SNP	G	G	A			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr2:135893466G>A	ENST00000264158.8	+	17	1930	c.1887G>A	c.(1885-1887)ctG>ctA	p.L629L	ZRANB3_ENST00000412849.1_5'Flank|RAB3GAP1_ENST00000539493.1_Silent_p.L585L|SNORA40_ENST00000385573.1_RNA|RAB3GAP1_ENST00000442034.1_Silent_p.L629L|RAB3GAP1_ENST00000487003.1_3'UTR	NM_012233.2	NP_036365.1	Q15042	RB3GP_HUMAN	RAB3 GTPase activating protein subunit 1 (catalytic)	629					brain development (GO:0007420)|camera-type eye development (GO:0043010)|establishment of protein localization to endoplasmic reticulum membrane (GO:0097051)|face morphogenesis (GO:0060325)|hypothalamus development (GO:0021854)|lipid particle organization (GO:0034389)|positive regulation of endoplasmic reticulum tubular network organization (GO:1903373)|positive regulation of GTP catabolic process (GO:0033126)|positive regulation of Rab GTPase activity (GO:0032851)|regulation of calcium ion-dependent exocytosis of neurotransmitter (GO:1903233)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of GTPase activity (GO:0043087)|regulation of short-term neuronal synaptic plasticity (GO:0048172)	cytoplasm (GO:0005737)|endoplasmic reticulum tubular network (GO:0071782)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)	Rab GTPase activator activity (GO:0005097)|Rab GTPase binding (GO:0017137)			breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(10)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	32				BRCA - Breast invasive adenocarcinoma(221;0.117)		TTACACTGCTGCATAATGGAG	0.418																																						ENST00000264158.8																			0				breast(1)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(5)|liver(1)|lung(10)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	32						c.(1885-1887)ctG>ctA		RAB3 GTPase activating protein subunit 1 (catalytic)							108.0	109.0	109.0					2																	135893466		2203	4300	6503	SO:0001819	synonymous_variant	22930					centrosome|nucleus|soluble fraction	Rab GTPase activator activity|Rab GTPase binding	g.chr2:135893466G>A	D31886	CCDS33294.1, CCDS54402.1	2q21.3	2013-07-09			ENSG00000115839	ENSG00000115839			17063	protein-coding gene	gene with protein product		602536				9030515, 15696165	Standard	NM_012233		Approved	RAB3GAP, KIAA0066, RAB3GAP130, WARBM1	uc010fnf.3	Q15042	OTTHUMG00000154889	ENST00000264158.8:c.1887G>A	2.37:g.135893466G>A						RAB3GAP1_ENST00000539493.1_Silent_p.L585L|RAB3GAP1_ENST00000487003.1_3'UTR|RAB3GAP1_ENST00000442034.1_Silent_p.L629L	p.L629L	NM_012233.2	NP_036365.1	Q15042	RB3GP_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.117)	17	1930	+			629					A6H8Z3|C9J837|Q659F5|Q8TBB4	Silent	SNP	ENST00000264158.8	37	c.1887G>A	CCDS33294.1																																																																																				0.418	RAB3GAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337514.2	NM_012233		83	139	0	0	0	1	0	83	139				
HSD17B6	8630	broad.mit.edu	37	12	57175987	57175987	+	Silent	SNP	T	T	C			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr12:57175987T>C	ENST00000554643.1	+	4	892	c.543T>C	c.(541-543)taT>taC	p.Y181Y	HSD17B6_ENST00000555805.1_Silent_p.Y181Y|HSD17B6_ENST00000554150.1_Silent_p.Y181Y|HSD17B6_ENST00000555159.1_Silent_p.Y181Y|HSD17B6_ENST00000322165.1_Silent_p.Y181Y			O14756	H17B6_HUMAN	hydroxysteroid (17-beta) dehydrogenase 6	181					androgen biosynthetic process (GO:0006702)|androgen catabolic process (GO:0006710)	endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|intracellular (GO:0005622)|membrane (GO:0016020)	catalytic activity (GO:0003824)|electron carrier activity (GO:0009055)|estradiol 17-beta-dehydrogenase activity (GO:0004303)|oxidoreductase activity (GO:0016491)|retinol dehydrogenase activity (GO:0004745)|testosterone dehydrogenase (NAD+) activity (GO:0047035)			endometrium(1)|large_intestine(2)|lung(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10					Succinic acid(DB00139)	TCTCCAAGTATGGAGTGGAAG	0.423																																						ENST00000554643.1																			0				endometrium(1)|large_intestine(2)|lung(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10						c.(541-543)taT>taC		hydroxysteroid (17-beta) dehydrogenase 6	Succinic acid(DB00139)						86.0	83.0	84.0					12																	57175987		2203	4300	6503	SO:0001819	synonymous_variant	8630				androgen biosynthetic process|androgen catabolic process	early endosome membrane|endoplasmic reticulum|microsome	binding|electron carrier activity|estradiol 17-beta-dehydrogenase activity|retinol dehydrogenase activity|testosterone 17-beta-dehydrogenase (NAD+) activity	g.chr12:57175987T>C	AF016509	CCDS8925.1	12q13.3	2012-12-07	2012-12-07		ENSG00000025423	ENSG00000025423	1.1.1.62, 1.1.1.63, 1.1.1.105	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 2"""	23316	protein-coding gene	gene with protein product	"""oxidative 3-alpha-hydroxysteroid-dehydrogenase"", ""3(alpha->beta)-hydroxysteroid epimerasel"", ""retinol dehydrogenase"", ""oxidoreductase"", ""NAD+ -dependent 3 alpha-hydroxysteroid dehydrogenase"", ""3-hydroxysteroid epimerase"", ""short chain dehydrogenase/reductase family 9C, member 6"""	606623	"""hydroxysteroid (17-beta) dehydrogenase 6"", ""hydroxysteroid (17-beta) dehydrogenase 6 homolog (mouse)"""			11165032, 19027726	Standard	XM_005269207		Approved	HSE, RODH, SDR9C6	uc001smg.1	O14756	OTTHUMG00000170854	ENST00000554643.1:c.543T>C	12.37:g.57175987T>C						HSD17B6_ENST00000555805.1_Silent_p.Y181Y|HSD17B6_ENST00000555159.1_Silent_p.Y181Y|HSD17B6_ENST00000322165.1_Silent_p.Y181Y|HSD17B6_ENST00000554150.1_Silent_p.Y181Y	p.Y181Y			O14756	H17B6_HUMAN			4	892	+			181					O43275	Silent	SNP	ENST00000554643.1	37	c.543T>C	CCDS8925.1																																																																																				0.423	HSD17B6-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410714.1	NM_003725		57	89	0	0	0	1	0	57	89				
MAP3K13	9175	broad.mit.edu	37	3	185167779	185167779	+	Missense_Mutation	SNP	A	A	T			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr3:185167779A>T	ENST00000265026.3	+	6	1436	c.1102A>T	c.(1102-1104)Aac>Tac	p.N368Y	MAP3K13_ENST00000424227.1_Missense_Mutation_p.N368Y|MAP3K13_ENST00000446828.1_Missense_Mutation_p.N161Y|MAP3K13_ENST00000443863.1_Missense_Mutation_p.N224Y|MAP3K13_ENST00000535426.1_Missense_Mutation_p.N224Y	NM_004721.4	NP_004712.1			mitogen-activated protein kinase kinase kinase 13											NS(1)|biliary_tract(1)|breast(3)|endometrium(3)|kidney(1)|large_intestine(13)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54	all_cancers(143;7.21e-11)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)			TGTTGGAAGCAACAGCCTCCA	0.453																																						ENST00000265026.3																			0				NS(1)|biliary_tract(1)|breast(3)|endometrium(3)|kidney(1)|large_intestine(13)|lung(22)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	54						c.(1102-1104)Aac>Tac		mitogen-activated protein kinase kinase kinase 13							98.0	92.0	94.0					3																	185167779		2203	4300	6503	SO:0001583	missense	9175				activation of MAPKK activity|JNK cascade|positive regulation of NF-kappaB transcription factor activity|protein autophosphorylation	cytoplasm|membrane|membrane fraction	ATP binding|magnesium ion binding|MAP kinase kinase kinase activity|protein homodimerization activity|protein kinase binding	g.chr3:185167779A>T	BC031677	CCDS3270.1, CCDS56298.1	3q27	2011-06-09			ENSG00000073803	ENSG00000073803		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6852	protein-coding gene	gene with protein product	"""leucine zipper-bearing kinase"""	604915				9353328	Standard	NM_004721		Approved	LZK, MEKK13	uc003fpi.3	O43283	OTTHUMG00000156673	ENST00000265026.3:c.1102A>T	3.37:g.185167779A>T	ENSP00000265026:p.Asn368Tyr					MAP3K13_ENST00000535426.1_Missense_Mutation_p.N224Y|MAP3K13_ENST00000424227.1_Missense_Mutation_p.N368Y|MAP3K13_ENST00000446828.1_Missense_Mutation_p.N161Y|MAP3K13_ENST00000443863.1_Missense_Mutation_p.N224Y	p.N368Y	NM_004721.4	NP_004712.1	O43283	M3K13_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;1.93e-20)		6	1436	+	all_cancers(143;7.21e-11)|Ovarian(172;0.0339)		368			Protein kinase.			Missense_Mutation	SNP	ENST00000265026.3	37	c.1102A>T	CCDS3270.1	.	.	.	.	.	.	.	.	.	.	A	26.7	4.764560	0.89932	.	.	ENSG00000073803	ENST00000446828;ENST00000424227;ENST00000443863;ENST00000535426;ENST00000265026;ENST00000420577	D;D;D;D;D;D	0.83075	-1.68;-1.68;-1.68;-1.68;-1.68;-1.68	5.68	5.68	0.88126	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.89139	0.6630	L	0.52823	1.66	0.80722	D	1	D;D;D	0.76494	0.998;0.998;0.999	D;D;D	0.78314	0.984;0.984;0.991	D	0.90111	0.4192	10	0.87932	D	0	.	16.2164	0.82224	1.0:0.0:0.0:0.0	.	224;161;368	O43283-4;O43283-5;O43283	.;.;M3K13_HUMAN	Y	161;368;224;224;368;113	ENSP00000411483:N161Y;ENSP00000399910:N368Y;ENSP00000409325:N224Y;ENSP00000439257:N224Y;ENSP00000265026:N368Y;ENSP00000415712:N113Y	ENSP00000265026:N368Y	N	+	1	0	MAP3K13	186650473	1.000000	0.71417	0.999000	0.59377	0.990000	0.78478	9.339000	0.96797	2.289000	0.77006	0.533000	0.62120	AAC		0.453	MAP3K13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345268.1	NM_004721		110	96	0	0	0	1	0	110	96				
S100P	6286	broad.mit.edu	37	4	6698621	6698621	+	Splice_Site	SNP	G	G	A			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr4:6698621G>A	ENST00000296370.3	+	2	1004	c.140G>A	c.(139-141)aGt>aAt	p.S47N	S100P_ENST00000513778.1_3'UTR	NM_005980.2	NP_005971.1	P25815	S100P_HUMAN	S100 calcium binding protein P	47	EF-hand 1. {ECO:0000255|PROSITE- ProRule:PRU00448}.				endothelial cell migration (GO:0043542)|response to organic substance (GO:0010033)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calcium-dependent protein binding (GO:0048306)|magnesium ion binding (GO:0000287)			prostate(1)	1		Myeloproliferative disorder(84;0.0255)		Colorectal(103;0.011)	Cromoglicic acid(DB01003)	CTCCTCTAGAGTGGAAAAGAC	0.567																																						ENST00000296370.3																			0				prostate(1)	1						c.e2-1		S100 calcium binding protein P	Cromoglicate(DB01003)						180.0	177.0	178.0					4																	6698621		2203	4300	6503	SO:0001630	splice_region_variant	6286				endothelial cell migration	cytoplasm|nucleus	calcium ion binding|calcium-dependent protein binding|magnesium ion binding	g.chr4:6698621G>A	X65614	CCDS3391.1	4p16	2013-01-10	2001-11-28		ENSG00000163993	ENSG00000163993		"""S100 calcium binding proteins"", ""EF-hand domain containing"""	10504	protein-coding gene	gene with protein product		600614	"""S100 calcium-binding protein P"""			8341667, 7759097	Standard	NM_005980		Approved		uc003gjl.3	P25815	OTTHUMG00000090491	ENST00000296370.3:c.139-1G>A	4.37:g.6698621G>A						S100P_ENST00000513778.1_3'UTR	p.S47_splice	NM_005980.2	NP_005971.1	P25815	S100P_HUMAN		Colorectal(103;0.011)	2	1004	+		Myeloproliferative disorder(84;0.0255)	47			EF-hand 1.		Q5J7W2	Splice_Site	SNP	ENST00000296370.3	37	c.138_splice	CCDS3391.1	.	.	.	.	.	.	.	.	.	.	G	0.732	-0.779674	0.02929	.	.	ENSG00000163993	ENST00000296370	T	0.06218	3.33	3.78	-4.87	0.03123	EF-hand-like domain (1);	1.347540	0.05088	N	0.484796	T	0.02156	0.0067	.	.	.	0.09310	N	1	B	0.06786	0.001	B	0.08055	0.003	T	0.43426	-0.9392	9	0.02654	T	1	.	6.4363	0.21825	0.3308:0.3579:0.3113:0.0	.	47	P25815	S100P_HUMAN	N	47	ENSP00000296370:S47N	ENSP00000296370:S47N	S	+	2	0	S100P	6749522	0.000000	0.05858	0.000000	0.03702	0.072000	0.16883	-1.120000	0.03273	-1.114000	0.02977	-0.886000	0.02939	AGT		0.567	S100P-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206979.1	NM_005980	Missense_Mutation	25	570	0	0	0	1	0	25	570				
SYT1	6857	broad.mit.edu	37	12	79611319	79611319	+	Missense_Mutation	SNP	A	A	G			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr12:79611319A>G	ENST00000261205.4	+	4	677	c.20A>G	c.(19-21)cAt>cGt	p.H7R	SYT1_ENST00000552744.1_Missense_Mutation_p.H7R|SYT1_ENST00000457153.2_Missense_Mutation_p.H7R|SYT1_ENST00000393240.3_Missense_Mutation_p.H7R	NM_005639.2	NP_005630.1	P21579	SYT1_HUMAN	synaptotagmin I	7					calcium ion-dependent exocytosis of neurotransmitter (GO:0048791)|detection of calcium ion (GO:0005513)|glutamate secretion (GO:0014047)|neurotransmitter secretion (GO:0007269)|positive regulation of calcium ion-dependent exocytosis (GO:0045956)|positive regulation of synaptic transmission (GO:0050806)|positive regulation of vesicle fusion (GO:0031340)|protein homooligomerization (GO:0051260)|regulation of exocytosis (GO:0017157)|regulation of regulated secretory pathway (GO:1903305)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission (GO:0007268)|synaptic vesicle exocytosis (GO:0016079)|vesicle docking (GO:0048278)	cell junction (GO:0030054)|clathrin-sculpted acetylcholine transport vesicle membrane (GO:0060201)|clathrin-sculpted gamma-aminobutyric acid transport vesicle membrane (GO:0061202)|clathrin-sculpted glutamate transport vesicle membrane (GO:0060203)|clathrin-sculpted monoamine transport vesicle membrane (GO:0070083)|dense core granule (GO:0031045)|endocytic vesicle membrane (GO:0030666)|excitatory synapse (GO:0060076)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)|synaptic vesicle (GO:0008021)|synaptic vesicle membrane (GO:0030672)	1-phosphatidylinositol binding (GO:0005545)|calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|low-density lipoprotein particle receptor binding (GO:0050750)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|phosphatidylserine binding (GO:0001786)|SNARE binding (GO:0000149)|syntaxin-1 binding (GO:0017075)|transporter activity (GO:0005215)			NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|pancreas(2)|skin(6)	25						GAGAGTCACCATGAGGCCCTG	0.537																																						ENST00000261205.4																			0				NS(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|ovary(1)|pancreas(2)|skin(6)	25						c.(19-21)cAt>cGt		synaptotagmin I							42.0	43.0	42.0					12																	79611319		2203	4300	6503	SO:0001583	missense	6857				detection of calcium ion|glutamate secretion|neurotransmitter secretion|protein homooligomerization	cell junction|chromaffin granule membrane|clathrin sculpted acetylcholine transport vesicle membrane|clathrin sculpted gamma-aminobutyric acid transport vesicle membrane|clathrin sculpted glutamate transport vesicle membrane|clathrin sculpted monoamine transport vesicle membrane|endocytic vesicle membrane|integral to membrane|synaptic vesicle membrane	1-phosphatidylinositol binding|low-density lipoprotein particle receptor binding|metal ion binding|syntaxin-1 binding|transporter activity	g.chr12:79611319A>G		CCDS9017.1	12q21.2	2013-09-20			ENSG00000067715	ENSG00000067715		"""Synaptotagmins"""	11509	protein-coding gene	gene with protein product		185605		SYT, SVP65		1840599	Standard	NM_001135805		Approved	P65	uc001syv.3	P21579	OTTHUMG00000134326	ENST00000261205.4:c.20A>G	12.37:g.79611319A>G	ENSP00000261205:p.His7Arg					SYT1_ENST00000552744.1_Missense_Mutation_p.H7R|SYT1_ENST00000457153.2_Missense_Mutation_p.H7R|SYT1_ENST00000393240.3_Missense_Mutation_p.H7R	p.H7R	NM_005639.2	NP_005630.1	P21579	SYT1_HUMAN			4	677	+			7					Q6AI31	Missense_Mutation	SNP	ENST00000261205.4	37	c.20A>G	CCDS9017.1	.	.	.	.	.	.	.	.	.	.	A	7.326	0.617889	0.14129	.	.	ENSG00000067715	ENST00000393240;ENST00000261205;ENST00000457153;ENST00000552074;ENST00000547046;ENST00000549671;ENST00000551304;ENST00000552744;ENST00000552624;ENST00000446242	T;T;T;T;T;T	0.56103	0.48;0.48;0.48;0.48;2.17;2.74	5.51	1.61	0.23674	.	0.374784	0.30320	N	0.009889	T	0.24661	0.0598	N	0.08118	0	0.25837	N	0.984109	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.18493	-1.0335	10	0.12430	T	0.62	.	6.4517	0.21908	0.4442:0.418:0.1377:0.0	.	7;7	Q6AI31;P21579	.;SYT1_HUMAN	R	7	ENSP00000376932:H7R;ENSP00000261205:H7R;ENSP00000391056:H7R;ENSP00000447575:H7R;ENSP00000448861:H7R;ENSP00000401559:H7R	ENSP00000261205:H7R	H	+	2	0	SYT1	78135450	0.990000	0.36364	0.955000	0.39395	0.980000	0.70556	1.723000	0.38053	0.019000	0.15079	0.523000	0.50628	CAT		0.537	SYT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000259415.1	NM_005639		56	85	0	0	0	1	0	56	85				
MN1	4330	broad.mit.edu	37	22	28196205	28196205	+	Missense_Mutation	SNP	C	C	A	rs199652488		TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr22:28196205C>A	ENST00000302326.4	-	1	1281	c.327G>T	c.(325-327)caG>caT	p.Q109H		NM_002430.2	NP_002421.3	Q10571	MN1_HUMAN	meningioma (disrupted in balanced translocation) 1	109					intramembranous ossification (GO:0001957)					NS(1)|breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	45						GGGGGTGATGCTGGTGGGGAT	0.721			T	ETV6	"""AML, meningioma"""																																	ENST00000302326.4				Dom	yes		22	22q13	4330	T	meningioma (disrupted in balanced translocation) 1			"""L, O"""	ETV6		"""AML, meningioma"""		0				NS(1)|breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	45						c.(325-327)caG>caT		meningioma (disrupted in balanced translocation) 1							9.0	12.0	11.0					22																	28196205		1962	4070	6032	SO:0001583	missense	4330						binding	g.chr22:28196205C>A	X82209	CCDS42998.1	22q12.1	2010-09-29			ENSG00000169184	ENSG00000169184			7180	protein-coding gene	gene with protein product	"""probable tumor suppressor protein MN1"""	156100	"""meningioma chromosome region"""	MGCR		7731706, 12569362	Standard	NM_002430		Approved	MGCR1-PEN, MGCR1	uc003adj.3	Q10571	OTTHUMG00000150975	ENST00000302326.4:c.327G>T	22.37:g.28196205C>A	ENSP00000304956:p.Gln109His						p.Q109H	NM_002430.2	NP_002421.3	Q10571	MN1_HUMAN			1	1281	-			109					A9Z1V9	Missense_Mutation	SNP	ENST00000302326.4	37	c.327G>T	CCDS42998.1	.	.	.	.	.	.	.	.	.	.	C	15.16	2.749950	0.49257	.	.	ENSG00000169184	ENST00000302326	T	0.68903	-0.36	4.62	2.47	0.30058	.	0.068878	0.64402	D	0.000019	T	0.63931	0.2553	N	0.14661	0.345	0.38677	D	0.952458	D	0.76494	0.999	D	0.69479	0.964	T	0.66292	-0.5960	10	0.52906	T	0.07	-13.2659	9.8603	0.41109	0.0:0.8413:0.0:0.1587	.	109	Q10571	MN1_HUMAN	H	109	ENSP00000304956:Q109H	ENSP00000304956:Q109H	Q	-	3	2	MN1	26526205	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	2.279000	0.43435	0.615000	0.30124	0.561000	0.74099	CAG		0.721	MN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320737.1	NM_002430		7	66	1	0	5.18039e-06	1	5.39467e-06	7	66				
SIDT1	54847	broad.mit.edu	37	3	113320475	113320475	+	Missense_Mutation	SNP	C	C	A			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr3:113320475C>A	ENST00000264852.4	+	11	1812	c.1086C>A	c.(1084-1086)agC>agA	p.S362R	SIDT1_ENST00000393830.3_Missense_Mutation_p.S362R	NM_017699.2	NP_060169.2	Q9NXL6	SIDT1_HUMAN	SID1 transmembrane family, member 1	362					dsRNA transport (GO:0033227)	integral component of membrane (GO:0016021)	RNA transmembrane transporter activity (GO:0051033)			breast(1)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|liver(2)|lung(15)|ovary(3)|pancreas(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50						TTGCTGCCAGCACACCCGAAG	0.418																																						ENST00000264852.4																			0				breast(1)|central_nervous_system(1)|endometrium(9)|kidney(1)|large_intestine(11)|liver(2)|lung(15)|ovary(3)|pancreas(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50						c.(1084-1086)agC>agA		SID1 transmembrane family, member 1							119.0	105.0	110.0					3																	113320475		2203	4300	6503	SO:0001583	missense	54847					integral to membrane		g.chr3:113320475C>A	AK000181	CCDS2974.1	3q13.31	2009-11-26			ENSG00000072858	ENSG00000072858			25967	protein-coding gene	gene with protein product		606816					Standard	NM_017699		Approved	FLJ20174, SID-1	uc003eak.3	Q9NXL6	OTTHUMG00000159299	ENST00000264852.4:c.1086C>A	3.37:g.113320475C>A	ENSP00000264852:p.Ser362Arg					SIDT1_ENST00000393830.3_Missense_Mutation_p.S362R	p.S362R	NM_017699.2	NP_060169.2	Q9NXL6	SIDT1_HUMAN			11	1812	+			362					Q17RR4	Missense_Mutation	SNP	ENST00000264852.4	37	c.1086C>A	CCDS2974.1	.	.	.	.	.	.	.	.	.	.	C	17.29	3.352390	0.61293	.	.	ENSG00000072858	ENST00000264852;ENST00000393830	T;T	0.23552	1.9;1.9	6.07	2.22	0.28083	.	0.391898	0.27266	N	0.020153	T	0.32164	0.0820	L	0.47716	1.5	0.43283	D	0.995256	P;P	0.38129	0.565;0.619	P;P	0.52554	0.642;0.702	T	0.04537	-1.0944	10	0.44086	T	0.13	-9.0207	6.227	0.20714	0.118:0.6306:0.0:0.2514	.	362;362	Q9NXL6-2;Q9NXL6	.;SIDT1_HUMAN	R	362	ENSP00000264852:S362R;ENSP00000377416:S362R	ENSP00000264852:S362R	S	+	3	2	SIDT1	114803165	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	0.557000	0.23454	0.429000	0.26202	0.655000	0.94253	AGC		0.418	SIDT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317564.1	NM_017699		29	29	1	0	2.65835e-16	1	3.17813e-16	29	29				
USP25	29761	broad.mit.edu	37	21	17197371	17197371	+	Missense_Mutation	SNP	G	G	T			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr21:17197371G>T	ENST00000285679.6	+	12	1664	c.1295G>T	c.(1294-1296)aGg>aTg	p.R432M	USP25_ENST00000400183.2_Missense_Mutation_p.R432M|USP25_ENST00000351097.5_Intron|USP25_ENST00000285681.2_Missense_Mutation_p.R432M	NM_013396.3	NP_037528.3	Q9UHP3	UBP25_HUMAN	ubiquitin specific peptidase 25	432	USP.				cellular protein modification process (GO:0006464)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)|proteolysis (GO:0006508)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	peptidase activity (GO:0008233)|SUMO binding (GO:0032183)|ubiquitin-specific protease activity (GO:0004843)			breast(4)|endometrium(6)|kidney(2)|large_intestine(13)|liver(5)|lung(14)|ovary(4)|prostate(1)|skin(1)|urinary_tract(2)	52				Epithelial(23;7.55e-05)|all cancers(11;0.000429)|COAD - Colon adenocarcinoma(22;0.00543)|OV - Ovarian serous cystadenocarcinoma(11;0.00743)|Colorectal(24;0.0116)|Lung(58;0.0853)|LUSC - Lung squamous cell carcinoma(23;0.0889)		TTACAACAAAGGCTAGAAAGG	0.308																																						ENST00000285681.2																			0				breast(4)|endometrium(6)|kidney(2)|large_intestine(13)|liver(5)|lung(14)|ovary(4)|prostate(1)|skin(1)|urinary_tract(2)	52						c.(1294-1296)aGg>aTg		ubiquitin specific peptidase 25							91.0	92.0	91.0					21																	17197371		2203	4300	6503	SO:0001583	missense	29761				protein modification process|ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr21:17197371G>T	AF170562	CCDS33515.1, CCDS63336.1, CCDS63337.1	21q11.2	2011-02-24	2005-08-08		ENSG00000155313	ENSG00000155313		"""Ubiquitin-specific peptidases"""	12624	protein-coding gene	gene with protein product		604736	"""ubiquitin specific protease 25"""			12838346, 10612803	Standard	NM_013396		Approved	USP21	uc002yjy.1	Q9UHP3	OTTHUMG00000074343	ENST00000285679.6:c.1295G>T	21.37:g.17197371G>T	ENSP00000285679:p.Arg432Met					USP25_ENST00000351097.5_Intron|USP25_ENST00000285679.6_Missense_Mutation_p.R432M|USP25_ENST00000400183.2_Missense_Mutation_p.R432M	p.R432M			Q9UHP3	UBP25_HUMAN		Epithelial(23;7.55e-05)|all cancers(11;0.000429)|COAD - Colon adenocarcinoma(22;0.00543)|OV - Ovarian serous cystadenocarcinoma(11;0.00743)|Colorectal(24;0.0116)|Lung(58;0.0853)|LUSC - Lung squamous cell carcinoma(23;0.0889)	12	1664	+			432					C0LSZ0|Q6DHZ9|Q9H9W1	Missense_Mutation	SNP	ENST00000285679.6	37	c.1295G>T	CCDS33515.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	20.5|20.5	3.998408|3.998408	0.74818|0.74818	.|.	.|.	ENSG00000155313|ENSG00000155313	ENST00000453553|ENST00000285681;ENST00000285679;ENST00000400183	.|T;T;T	.|0.74421	.|-0.84;-0.84;-0.84	5.74|5.74	4.86|4.86	0.63082|0.63082	.|Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	.|0.091028	.|0.85682	.|D	.|0.000000	T|T	0.82102|0.82102	0.4964|0.4964	L|L	0.53249|0.53249	1.67|1.67	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.69078	.|0.997;0.997;0.971	.|D;D;P	.|0.66716	.|0.946;0.946;0.823	D|D	0.83972|0.83972	0.0327|0.0327	5|10	.|0.72032	.|D	.|0.01	.|.	14.024|14.024	0.64575|0.64575	0.0739:0.0:0.9261:0.0|0.0739:0.0:0.9261:0.0	.|.	.|432;432;432	.|Q9UHP3-3;Q9UHP3-1;Q9UHP3	.|.;.;UBP25_HUMAN	C|M	15|432	.|ENSP00000285681:R432M;ENSP00000285679:R432M;ENSP00000383044:R432M	.|ENSP00000285679:R432M	G|R	+|+	1|2	0|0	USP25|USP25	16119242|16119242	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.874000|0.874000	0.50279|0.50279	6.110000|6.110000	0.71535|0.71535	1.588000|1.588000	0.49971|0.49971	0.650000|0.650000	0.86243|0.86243	GGC|AGG		0.308	USP25-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157964.1			10	81	1	0	0.000673444	1	0.000684641	10	81				
CNTNAP5	129684	broad.mit.edu	37	2	125555770	125555770	+	Silent	SNP	T	T	A			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr2:125555770T>A	ENST00000431078.1	+	19	3451	c.3087T>A	c.(3085-3087)atT>atA	p.I1029I		NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN	contactin associated protein-like 5	1029	Laminin G-like 4. {ECO:0000255|PROSITE- ProRule:PRU00122}.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)				NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176				BRCA - Breast invasive adenocarcinoma(221;0.248)		CCTCAGCTATTTACACAGATT	0.438																																						ENST00000431078.1																			0				NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(24)|lung(100)|ovary(10)|prostate(12)|skin(4)|upper_aerodigestive_tract(3)	176						c.(3085-3087)atT>atA		contactin associated protein-like 5							144.0	138.0	140.0					2																	125555770		1939	4141	6080	SO:0001819	synonymous_variant	129684				cell adhesion|signal transduction	integral to membrane	receptor binding	g.chr2:125555770T>A	AB077881	CCDS46401.1	2q14.1	2008-02-05			ENSG00000155052	ENSG00000155052			18748	protein-coding gene	gene with protein product		610519					Standard	NM_130773		Approved	caspr5, FLJ31966	uc002tno.3	Q8WYK1	OTTHUMG00000153356	ENST00000431078.1:c.3087T>A	2.37:g.125555770T>A							p.I1029I	NM_130773.2	NP_570129.1	Q8WYK1	CNTP5_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.248)	19	3451	+			1029			Laminin G-like 4.		Q4ZFW2|Q4ZG21|Q53R09|Q53RX1|Q53SG3|Q584P3|Q96MS7	Silent	SNP	ENST00000431078.1	37	c.3087T>A	CCDS46401.1																																																																																				0.438	CNTNAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330864.3			28	43	0	0	0	1	0	28	43				
TTN	7273	broad.mit.edu	37	2	179566302	179566302	+	Missense_Mutation	SNP	G	G	T			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr2:179566302G>T	ENST00000591111.1	-	108	29824	c.29600C>A	c.(29599-29601)tCc>tAc	p.S9867Y	TTN_ENST00000359218.5_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.S8940Y|TTN-AS1_ENST00000431752.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000589042.1_Missense_Mutation_p.S10184Y			Q8WZ42	TITIN_HUMAN	titin	33598	Pro-rich.				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)			TGGAACTCTGGAGTCAGGAAT	0.418																																						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.(30550-30552)tCc>tAc		titin							138.0	134.0	135.0					2																	179566302		1958	4165	6123	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179566302G>T	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.29600C>A	2.37:g.179566302G>T	ENSP00000465570:p.Ser9867Tyr					TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000591111.1_Missense_Mutation_p.S9867Y|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.S8940Y	p.S10184Y	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)		110	30775	-			9867			Glu-rich.		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.30551C>A		.	.	.	.	.	.	.	.	.	.	G	17.73	3.461152	0.63513	.	.	ENSG00000155657	ENST00000342992;ENST00000414766	T	0.64803	-0.12	5.84	5.84	0.93424	Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);	.	.	.	.	T	0.77089	0.4079	M	0.62723	1.935	0.80722	D	1	D;D	0.76494	0.995;0.999	D;D	0.83275	0.986;0.996	T	0.78275	-0.2267	9	0.87932	D	0	.	15.6534	0.77115	0.0:0.0:1.0:0.0	.	9867;9867	Q8WZ42;Q8WZ42-5	TITIN_HUMAN;.	Y	8940;62	ENSP00000343764:S8940Y	ENSP00000343764:S8940Y	S	-	2	0	TTN	179274547	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.946000	0.70234	2.758000	0.94735	0.655000	0.94253	TCC		0.418	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		35	79	1	0	3.76114e-14	1	4.36251e-14	35	79				
IGHV3-73	28409	broad.mit.edu	37	14	107211183	107211183	+	RNA	SNP	A	A	G			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr14:107211183A>G	ENST00000390636.2	-	0	185									immunoglobulin heavy variable 3-73																		AGTTTCAGGGACCCCCCAGGC	0.627																																						ENST00000390636.2																			0																				80.0	82.0	82.0					14																	107211183		1882	4104	5986			28409							g.chr14:107211183A>G	Z27508		14q32.33	2012-02-08			ENSG00000211976	ENSG00000211976		"""Immunoglobulins / IGH locus"""	5623	other	immunoglobulin gene							Standard	NG_001019		Approved				OTTHUMG00000151867		14.37:g.107211183A>G														0	185	-									RNA	SNP	ENST00000390636.2	37																																																																																						0.627	IGHV3-73-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000324212.1	NG_001019		104	228	0	0	0	1	0	104	228				
RHOU	58480	broad.mit.edu	37	1	228871725	228871725	+	Missense_Mutation	SNP	T	T	A			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr1:228871725T>A	ENST00000366691.3	+	1	902	c.236T>A	c.(235-237)aTc>aAc	p.I79N		NM_021205.5	NP_067028.1			ras homolog family member U											breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)|stomach(1)	13	Breast(184;0.162)	Prostate(94;0.183)				ACCGAGTACATCCCTACTGCC	0.721																																						ENST00000366691.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)|stomach(1)	13						c.(235-237)aTc>aAc		ras homolog family member U							21.0	25.0	23.0					1																	228871725		2202	4297	6499	SO:0001583	missense	58480				regulation of small GTPase mediated signal transduction	cell projection|cytosol|focal adhesion|Golgi membrane|podosome	GTP binding|metal ion binding|protein binding	g.chr1:228871725T>A		CCDS1575.1	1q42.11-q42.3	2012-02-27	2012-02-27	2004-03-24	ENSG00000116574	ENSG00000116574			17794	protein-coding gene	gene with protein product	"""Ryu GTPase"", ""Wnt-1 responsive Cdc42 homolog"", ""2310026M05Rik"", ""GTP-binding protein like 1"", ""CDC42-like GTPase"", ""GTP-binding protein SB128"", ""ras-like gene family member U"""	606366	"""ras homolog gene family, member U"""	ARHU		11459829	Standard	NM_021205		Approved	WRCH-1, DJ646B12.2, FLJ10616, WRCH1, CDC42L1, hG28K, fJ646B12.2	uc001htf.3	Q7L0Q8	OTTHUMG00000037919	ENST00000366691.3:c.236T>A	1.37:g.228871725T>A	ENSP00000355652:p.Ile79Asn						p.I79N	NM_021205.5	NP_067028.1	Q7L0Q8	RHOU_HUMAN			1	902	+	Breast(184;0.162)	Prostate(94;0.183)	79						Missense_Mutation	SNP	ENST00000366691.3	37	c.236T>A	CCDS1575.1	.	.	.	.	.	.	.	.	.	.	.	13.85	2.360423	0.41801	.	.	ENSG00000116574	ENST00000366691	T	0.77098	-1.07	3.68	3.68	0.42216	Small GTP-binding protein domain (1);	0.560399	0.18610	N	0.136200	T	0.71316	0.3325	L	0.46567	1.45	0.45056	D	0.998074	P	0.38335	0.627	B	0.38755	0.281	T	0.74080	-0.3780	10	0.87932	D	0	.	10.309	0.43697	0.0:0.0:0.0:1.0	.	79	Q7L0Q8	RHOU_HUMAN	N	79	ENSP00000355652:I79N	ENSP00000355652:I79N	I	+	2	0	RHOU	226938348	1.000000	0.71417	1.000000	0.80357	0.010000	0.07245	2.138000	0.42140	1.513000	0.48852	0.370000	0.22315	ATC		0.721	RHOU-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092555.1	NM_021205		35	72	0	0	0	1	0	35	72				
KMT2C	58508	broad.mit.edu	37	7	151945266	151945266	+	Silent	SNP	A	A	G			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr7:151945266A>G	ENST00000262189.6	-	14	2471	c.2253T>C	c.(2251-2253)gaT>gaC	p.D751D	KMT2C_ENST00000355193.2_Silent_p.D751D	NM_170606.2	NP_733751.2	Q8NEZ4	KMT2C_HUMAN	lysine (K)-specific methyltransferase 2C	751					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)										GGTATGAAACATCTTTCACAC	0.393																																						ENST00000355193.2																			0											c.(2251-2253)gaT>gaC		lysine (K)-specific methyltransferase 2C							94.0	89.0	90.0					7																	151945266		2203	4296	6499	SO:0001819	synonymous_variant	58508							g.chr7:151945266A>G	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.2253T>C	7.37:g.151945266A>G						KMT2C_ENST00000262189.6_Silent_p.D751D	p.D751D							14	2471	-								Q8NC02|Q8NDF6|Q9H9P4|Q9NR13|Q9P222|Q9UDR7	Silent	SNP	ENST00000262189.6	37	c.2253T>C	CCDS5931.1																																																																																				0.393	KMT2C-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318887.3			15	378	0	0	0	1	0	15	378				
LILRB2	10288	broad.mit.edu	37	19	54778552	54778552	+	Silent	SNP	G	G	A	rs144888744	byFrequency	TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr19:54778552G>A	ENST00000391749.4	-	14	2053	c.1782C>T	c.(1780-1782)acC>acT	p.T594T	LILRB2_ENST00000314446.5_Silent_p.T593T|LILRB2_ENST00000391748.1_Silent_p.T593T|LILRB2_ENST00000391746.1_3'UTR|LILRB2_ENST00000434421.1_Silent_p.T478T	NM_001278406.1	NP_001265335.1	Q8N423	LIRB2_HUMAN	leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 2	594					cell surface receptor signaling pathway (GO:0007166)|cell-cell signaling (GO:0007267)|cellular defense response (GO:0006968)|cellular response to lipopolysaccharide (GO:0071222)|Fc receptor mediated inhibitory signaling pathway (GO:0002774)|heterotypic cell-cell adhesion (GO:0034113)|immune response (GO:0006955)|immune response-inhibiting cell surface receptor signaling pathway (GO:0002767)|negative regulation of antigen processing and presentation (GO:0002578)|negative regulation of calcium ion transport (GO:0051926)|negative regulation of T cell proliferation (GO:0042130)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of regulatory T cell differentiation (GO:0045591)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of T cell tolerance induction (GO:0002666)|regulation of dendritic cell differentiation (GO:2001198)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|inhibitory MHC class I receptor activity (GO:0032396)|MHC class I protein binding (GO:0042288)|MHC class Ib protein binding (GO:0023029)|protein phosphatase 1 binding (GO:0008157)|receptor activity (GO:0004872)			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(30)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	44	Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		GGATGGCCAGGGTGGCGTAGA	0.617													.|||	80	0.0159744	0.0023	0.0	5008	,	,		15649	0.005		0.004	False		,,,				2504	0.0695					ENST00000391748.1																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(30)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	44						c.(1777-1779)acC>acT		leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 2		G	,	8,4398	14.3+/-33.2	0,8,2195	111.0	96.0	101.0		1779,1782	-2.6	0.0	19	dbSNP_134	101	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	LILRB2	NM_001080978.2,NM_005874.3	,	0,8,6495	AA,AG,GG		0.0,0.1816,0.0615	,	593/598,594/599	54778552	8,12998	2203	4300	6503	SO:0001819	synonymous_variant	10288				cell surface receptor linked signaling pathway|cell-cell signaling|cellular defense response|immune response|regulation of immune response	integral to plasma membrane|membrane fraction	receptor activity	g.chr19:54778552G>A	AF000574	CCDS12886.1, CCDS42612.1, CCDS62791.1, CCDS62792.1	19q13.4	2013-01-11			ENSG00000131042	ENSG00000131042		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6606	protein-coding gene	gene with protein product		604815				9151699, 9079806	Standard	XM_006722966		Approved	LIR-2, ILT4, MIR-10, LIR2, CD85d, MIR10	uc002qfb.3	Q8N423	OTTHUMG00000064896	ENST00000391749.4:c.1782C>T	19.37:g.54778552G>A						LILRB2_ENST00000391749.4_Silent_p.T594T|LILRB2_ENST00000434421.1_Silent_p.T478T|LILRB2_ENST00000314446.5_Silent_p.T593T|LILRB2_ENST00000391746.1_3'UTR	p.T593T	NM_001278403.1	NP_001265332.1	Q8N423	LIRB2_HUMAN		GBM - Glioblastoma multiforme(193;0.105)	14	1906	-	Ovarian(34;0.19)		594					A8MU67|C9JF29|O75017|Q8NHJ7|Q8NHJ8	Silent	SNP	ENST00000391749.4	37	c.1779C>T	CCDS12886.1																																																																																				0.617	LILRB2-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000139510.1			8	110	0	0	0	1	0	8	110				
POLR1A	25885	broad.mit.edu	37	2	86258532	86258532	+	Missense_Mutation	SNP	C	C	G			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr2:86258532C>G	ENST00000263857.6	-	30	4877	c.4499G>C	c.(4498-4500)cGc>cCc	p.R1500P	POLR1A_ENST00000409681.1_Intron			O95602	RPA1_HUMAN	polymerase (RNA) I polypeptide A, 194kDa	1500					gene expression (GO:0010467)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)	cytoplasm (GO:0005737)|DNA-directed RNA polymerase I complex (GO:0005736)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	63						CTGGACCCGGCGCTCCATGGC	0.677																																						ENST00000263857.6																			0				NS(1)|breast(4)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(12)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(5)	63						c.(4498-4500)cGc>cCc		polymerase (RNA) I polypeptide A, 194kDa							106.0	115.0	112.0					2																	86258532		2010	4164	6174	SO:0001583	missense	25885				termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	DNA-directed RNA polymerase I complex|nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|protein binding|zinc ion binding	g.chr2:86258532C>G	AK025568	CCDS42706.1	2p11.2	2013-01-21			ENSG00000068654	ENSG00000068654		"""RNA polymerase subunits"""	17264	protein-coding gene	gene with protein product						9236775	Standard	NM_015425		Approved	DKFZP586M0122, FLJ21915, RPO1-4, RPA1	uc002sqs.3	O95602	OTTHUMG00000153165	ENST00000263857.6:c.4499G>C	2.37:g.86258532C>G	ENSP00000263857:p.Arg1500Pro					POLR1A_ENST00000409681.1_Intron	p.R1500P			O95602	RPA1_HUMAN			30	4877	-			1500					B7Z7T0|D6W5M0|Q0VG05|Q9UEH0|Q9UFT9	Missense_Mutation	SNP	ENST00000263857.6	37	c.4499G>C	CCDS42706.1	.	.	.	.	.	.	.	.	.	.	C	9.707	1.156128	0.21454	.	.	ENSG00000068654	ENST00000263857	T	0.67345	-0.26	4.94	0.338	0.15974	RNA polymerase Rpb1, domain 5 (1);	0.350303	0.31381	N	0.007743	T	0.53802	0.1819	L	0.46947	1.48	0.34617	D	0.718238	B	0.32939	0.391	B	0.36808	0.233	T	0.53308	-0.8457	10	0.32370	T	0.25	-13.3603	5.7503	0.18142	0.1596:0.5339:0.0:0.3064	.	1500	O95602	RPA1_HUMAN	P	1500	ENSP00000263857:R1500P	ENSP00000263857:R1500P	R	-	2	0	POLR1A	86112043	0.929000	0.31497	0.976000	0.42696	0.370000	0.29829	-0.094000	0.11094	0.231000	0.21079	-0.263000	0.10527	CGC		0.677	POLR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329830.2	NM_015425		60	387	0	0	0	1	0	60	387				
NCOR1P1	149934	broad.mit.edu	37	20	26084296	26084296	+	RNA	SNP	A	A	G	rs61752037	byFrequency	TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr20:26084296A>G	ENST00000478176.1	-	0	161					NR_003678.1		Q9H4R4	CT191_HUMAN	nuclear receptor corepressor 1 pseudogene 1									p.F40F(1)									GTTTGCCTCCAAATGCTGGAT	0.378																																						ENST00000478176.1																			1	Substitution - coding silent(1)	p.F40F(1)	kidney(1)																	41.0	30.0	33.0					20																	26084296		692	1590	2282			149934							g.chr20:26084296A>G	AL391119		20p11.1	2011-09-16	2011-09-16	2011-09-16	ENSG00000240108	ENSG00000240108			16724	pseudogene	pseudogene			"""chromosome 20 open reading frame 191"""	C20orf191			Standard	NR_003678		Approved	bB329D4.2	uc002wvj.5	Q9H4R4	OTTHUMG00000032145		20.37:g.26084296A>G								NR_003678.1						0	161	-								A2RUA0	RNA	SNP	ENST00000478176.1	37																																																																																						0.378	NCOR1P1-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000078478.2			4	96	0	0	0	1	0	4	96				
ANKRD30B	374860	broad.mit.edu	37	18	14763758	14763758	+	Missense_Mutation	SNP	G	G	T			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr18:14763758G>T	ENST00000358984.4	+	7	1074	c.894G>T	c.(892-894)ttG>ttT	p.L298F	ANKRD30B_ENST00000447268.2_Missense_Mutation_p.L298F|ANKRD30B_ENST00000579292.1_Intron	NM_001145029.1	NP_001138501.1	Q9BXX2	AN30B_HUMAN	ankyrin repeat domain 30B	298										breast(3)|endometrium(4)|kidney(3)|lung(8)|ovary(1)|prostate(2)|skin(1)	22						CTGAAAGCTTGCTGGAAAAAA	0.483																																						ENST00000358984.4																			0				breast(3)|endometrium(4)|kidney(3)|lung(8)|ovary(1)|prostate(2)|skin(1)	22						c.(892-894)ttG>ttT		ankyrin repeat domain 30B							49.0	48.0	48.0					18																	14763758		692	1591	2283	SO:0001583	missense	374860							g.chr18:14763758G>T	BC028407	CCDS54182.1	18p11.21	2013-01-10			ENSG00000180777	ENSG00000180777		"""Ankyrin repeat domain containing"""	24165	protein-coding gene	gene with protein product						11280766	Standard	NM_001145029		Approved	NY-BR-1.1	uc010dlo.2	Q9BXX2		ENST00000358984.4:c.894G>T	18.37:g.14763758G>T	ENSP00000351875:p.Leu298Phe					ANKRD30B_ENST00000579292.1_Intron|ANKRD30B_ENST00000447268.2_Missense_Mutation_p.L298F	p.L298F	NM_001145029.1	NP_001138501.1	Q9BXX2	AN30B_HUMAN			7	1074	+			298					B4DGP1|F8WAG3|Q4G175	Missense_Mutation	SNP	ENST00000358984.4	37	c.894G>T	CCDS54182.1	.	.	.	.	.	.	.	.	.	.	N	10.53	1.376103	0.24857	.	.	ENSG00000180777	ENST00000358984;ENST00000447268	T;T	0.35421	1.37;1.31	0.235	0.235	0.15431	.	.	.	.	.	T	0.38453	0.1041	N	0.24115	0.695	0.09310	N	1	D	0.62365	0.991	D	0.65323	0.934	T	0.21552	-1.0242	8	0.62326	D	0.03	.	.	.	.	.	298	F8WAG3	.	F	298	ENSP00000351875:L298F;ENSP00000399031:L298F	ENSP00000351875:L298F	L	+	3	2	ANKRD30B	14753758	0.014000	0.17966	0.007000	0.13788	0.007000	0.05969	0.308000	0.19314	0.308000	0.22923	0.313000	0.20887	TTG		0.483	ANKRD30B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000443557.1	NM_001145029		119	46	1	0	5.97981e-71	1	8.88666e-71	119	46				
PCDHA10	56139	broad.mit.edu	37	5	140237249	140237249	+	Missense_Mutation	SNP	G	G	C	rs201104305		TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr5:140237249G>C	ENST00000307360.5	+	1	1616	c.1616G>C	c.(1615-1617)gGg>gCg	p.G539A	PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron	NM_018901.2	NP_061724.1	Q9Y5I2	PCDAA_HUMAN	protocadherin alpha 10	539	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.G539A(2)		NS(1)|breast(11)|cervix(1)|endometrium(11)|kidney(5)|large_intestine(13)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	79			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCGCGCGATGGGGGCGTGCCG	0.687																																						ENST00000307360.5																			2	Substitution - Missense(2)	p.G539A(2)	urinary_tract(1)|kidney(1)	NS(1)|breast(11)|cervix(1)|endometrium(11)|kidney(5)|large_intestine(13)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	79						c.(1615-1617)gGg>gCg									53.0	57.0	56.0					5																	140237249		2196	4266	6462	SO:0001583	missense	56139							g.chr5:140237249G>C	AF152475	CCDS34255.1, CCDS54921.1, CCDS75325.1	5q31	2010-11-26			ENSG00000250120	ENSG00000250120		"""Cadherins / Protocadherins : Clustered"""	8664	other	complex locus constituent	"""KIAA0345-like 4"", ""ortholog to mouse CNR8"""	606316		CNRS8		10380929	Standard	NM_018901		Approved	CNR8, CRNR8, CNRN8, PCDH-ALPHA10		Q9Y5I2	OTTHUMG00000163372	ENST00000307360.5:c.1616G>C	5.37:g.140237249G>C	ENSP00000304234:p.Gly539Ala					PCDHA6_ENST00000529310.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron	p.G539A	NM_018901.2|NM_031859.1	NP_061724.1|NP_114065.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1616	+								A1L493|O75280|Q9NRU2	Missense_Mutation	SNP	ENST00000307360.5	37	c.1616G>C	CCDS54921.1	.	.	.	.	.	.	.	.	.	.	C	0	-2.655795	0.00108	.	.	ENSG00000250120	ENST00000307360	T	0.50277	0.75	3.63	2.76	0.32466	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.32102	0.0818	L	0.31752	0.955	0.21841	N	0.999515	B;B	0.06786	0.001;0.001	B;B	0.14578	0.011;0.009	T	0.17653	-1.0362	9	0.02654	T	1	.	13.5065	0.61486	0.0:0.7018:0.2982:0.0	.	539;539	Q9Y5I2-3;Q9Y5I2	.;PCDAA_HUMAN	A	539	ENSP00000304234:G539A	ENSP00000304234:G539A	G	+	2	0	PCDHA10	140217433	0.000000	0.05858	0.992000	0.48379	0.064000	0.16182	0.168000	0.16622	0.861000	0.35504	-0.220000	0.12472	GGG		0.687	PCDHA10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372895.2	NM_018901		11	321	0	0	0	1	0	11	321				
OR8D2	283160	broad.mit.edu	37	11	124189760	124189760	+	Missense_Mutation	SNP	C	C	A			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr11:124189760C>A	ENST00000357438.2	-	1	424	c.334G>T	c.(334-336)Ggc>Tgc	p.G112C		NM_001002918.1	NP_001002918.1	Q9GZM6	OR8D2_HUMAN	olfactory receptor, family 8, subfamily D, member 2	112						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	25		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0525)		AGAAGGTAGCCTTCTGCAATT	0.408																																						ENST00000357438.2																			0				breast(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	25						c.(334-336)Ggc>Tgc		olfactory receptor, family 8, subfamily D, member 2							76.0	73.0	74.0					11																	124189760		2201	4299	6500	SO:0001583	missense	283160				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:124189760C>A	AF162668	CCDS31707.1	11q24.1	2012-08-09			ENSG00000197263	ENSG00000197263		"""GPCR / Class A : Olfactory receptors"""	8482	protein-coding gene	gene with protein product							Standard	NM_001002918		Approved		uc010sah.2	Q9GZM6	OTTHUMG00000165978	ENST00000357438.2:c.334G>T	11.37:g.124189760C>A	ENSP00000350022:p.Gly112Cys						p.G112C	NM_001002918.1	NP_001002918.1	Q9GZM6	OR8D2_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0525)	1	424	-		Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)	112					B9EH49|Q6IFR0	Missense_Mutation	SNP	ENST00000357438.2	37	c.334G>T	CCDS31707.1	.	.	.	.	.	.	.	.	.	.	c	0.382	-0.928299	0.02359	.	.	ENSG00000197263	ENST00000357438	T	0.00359	7.87	3.64	0.489	0.16854	GPCR, rhodopsin-like superfamily (1);	0.000000	0.48767	D	0.000162	T	0.00109	0.0003	N	0.00067	-2.295	0.09310	N	1	D	0.89917	1.0	D	0.97110	1.0	T	0.59139	-0.7510	10	0.02654	T	1	.	7.238	0.26079	0.5211:0.3921:0.0:0.0868	.	112	Q9GZM6	OR8D2_HUMAN	C	112	ENSP00000350022:G112C	ENSP00000350022:G112C	G	-	1	0	OR8D2	123694970	0.000000	0.05858	0.172000	0.22920	0.773000	0.43773	-1.079000	0.03410	0.129000	0.18514	-0.386000	0.06593	GGC		0.408	OR8D2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387286.1	NM_001002918		30	71	1	0	2.12542e-12	1	2.38136e-12	30	71				
IRAK3	11213	broad.mit.edu	37	12	66638788	66638788	+	Missense_Mutation	SNP	C	C	A			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr12:66638788C>A	ENST00000261233.4	+	10	1568	c.1147C>A	c.(1147-1149)Ctg>Atg	p.L383M	IRAK3_ENST00000457197.2_Missense_Mutation_p.L322M	NM_007199.2	NP_009130.2			interleukin-1 receptor-associated kinase 3											breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	36				GBM - Glioblastoma multiforme(28;0.0203)		ACATATCCAGCTGGTAAGAAT	0.363																																						ENST00000261233.4																			0				breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(17)|ovary(2)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	36						c.(1147-1149)Ctg>Atg		interleukin-1 receptor-associated kinase 3							101.0	98.0	99.0					12																	66638788		2203	4300	6503	SO:0001583	missense	11213				interleukin-1-mediated signaling pathway|MyD88-dependent toll-like receptor signaling pathway|negative regulation of innate immune response|negative regulation of interleukin-12 production|negative regulation of interleukin-6 production|negative regulation of macrophage cytokine production|negative regulation of MAP kinase activity|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein catabolic process|negative regulation of protein complex disassembly|negative regulation of toll-like receptor signaling pathway|negative regulation of tumor necrosis factor production|positive regulation of macrophage tolerance induction|positive regulation of NF-kappaB transcription factor activity|response to exogenous dsRNA|response to lipopolysaccharide|response to peptidoglycan	cytoplasm|nucleus	ATP binding|magnesium ion binding|protein heterodimerization activity|protein homodimerization activity|protein serine/threonine kinase activity	g.chr12:66638788C>A	AF113136	CCDS8975.1, CCDS44937.1	12q13.13	2008-05-02			ENSG00000090376	ENSG00000090376			17020	protein-coding gene	gene with protein product		604459				10383454	Standard	NM_001142523		Approved	IRAK-M	uc001sth.3	Q9Y616	OTTHUMG00000169002	ENST00000261233.4:c.1147C>A	12.37:g.66638788C>A	ENSP00000261233:p.Leu383Met					IRAK3_ENST00000457197.2_Missense_Mutation_p.L322M	p.L383M	NM_007199.2	NP_009130.2	Q9Y616	IRAK3_HUMAN		GBM - Glioblastoma multiforme(28;0.0203)	10	1568	+			383			Protein kinase.			Missense_Mutation	SNP	ENST00000261233.4	37	c.1147C>A	CCDS8975.1	.	.	.	.	.	.	.	.	.	.	C	16.20	3.056236	0.55325	.	.	ENSG00000090376	ENST00000261233;ENST00000457197	T;T	0.67345	-0.26;-0.26	6.03	5.14	0.70334	Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.64402	D	0.000007	D	0.83142	0.5190	M	0.88181	2.935	0.40703	D	0.982504	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.86088	0.1548	9	.	.	.	-10.4066	11.5429	0.50677	0.0:0.9179:0.0:0.0821	.	322;383	Q9Y616-2;Q9Y616	.;IRAK3_HUMAN	M	383;322	ENSP00000261233:L383M;ENSP00000409852:L322M	.	L	+	1	2	IRAK3	64925055	0.976000	0.34144	1.000000	0.80357	0.360000	0.29518	2.024000	0.41049	1.558000	0.49541	0.655000	0.94253	CTG		0.363	IRAK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401908.1			60	109	1	0	2.44813e-32	1	3.26418e-32	60	109				
CXCL12	6387	broad.mit.edu	37	10	44880407	44880407	+	Missense_Mutation	SNP	A	A	G			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr10:44880407A>G	ENST00000374429.2	-	1	133	c.47T>C	c.(46-48)cTc>cCc	p.L16P	CXCL12_ENST00000395793.3_Missense_Mutation_p.L16P|CXCL12_ENST00000395795.4_Missense_Mutation_p.L16P|CXCL12_ENST00000343575.6_Missense_Mutation_p.L16P|CXCL12_ENST00000374426.2_Missense_Mutation_p.L16P|CXCL12_ENST00000496375.1_Intron|CXCL12_ENST00000395794.2_Missense_Mutation_p.L16P	NM_000609.5|NM_001277990.1	NP_000600.1|NP_001264919.1	P48061	SDF1_HUMAN	chemokine (C-X-C motif) ligand 12	16					adult locomotory behavior (GO:0008344)|ameboidal cell migration (GO:0001667)|blood circulation (GO:0008015)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cellular calcium ion homeostasis (GO:0006874)|chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|germ cell development (GO:0007281)|germ cell migration (GO:0008354)|immune response (GO:0006955)|induction of positive chemotaxis (GO:0050930)|motor neuron axon guidance (GO:0008045)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902230)|negative regulation of leukocyte apoptotic process (GO:2000107)|negative regulation of leukocyte tethering or rolling (GO:1903237)|neuron migration (GO:0001764)|organ regeneration (GO:0031100)|patterning of blood vessels (GO:0001569)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of calcium ion import (GO:0090280)|positive regulation of cell adhesion (GO:0045785)|positive regulation of dopamine secretion (GO:0033603)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of monocyte chemotaxis (GO:0090026)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of T cell migration (GO:2000406)|regulation of actin polymerization or depolymerization (GO:0008064)|response to heat (GO:0009408)|response to hypoxia (GO:0001666)|response to mechanical stimulus (GO:0009612)|response to peptide hormone (GO:0043434)|response to radiation (GO:0009314)|response to virus (GO:0009615)|signal transduction (GO:0007165)|T cell proliferation (GO:0042098)|telencephalon cell migration (GO:0022029)	external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	chemokine activity (GO:0008009)|chemokine receptor binding (GO:0042379)|CXCR chemokine receptor binding (GO:0045236)|receptor binding (GO:0005102)			endometrium(1)|large_intestine(1)|lung(3)|skin(1)	6					Tinzaparin(DB06822)	GCTGAGGCAGAGCGCGGTCAG	0.781																																						ENST00000374429.2																			0				endometrium(1)|large_intestine(1)|lung(3)|skin(1)	6						c.(46-48)cTc>cCc		chemokine (C-X-C motif) ligand 12	Dexamethasone(DB01234)						6.0	7.0	7.0					10																	44880407		2055	4085	6140	SO:0001583	missense	6387				blood circulation|cell adhesion|cellular calcium ion homeostasis|chemotaxis|G-protein coupled receptor protein signaling pathway|immune response|negative regulation of leukocyte apoptosis|positive regulation of monocyte chemotaxis|regulation of actin polymerization or depolymerization|response to virus	extracellular space	chemokine activity|growth factor activity|signal transducer activity	g.chr10:44880407A>G	L36033	CCDS7207.1, CCDS31186.1, CCDS44373.1, CCDS53527.1, CCDS60518.1	10q11.1	2013-02-28	2010-05-11	2002-08-23	ENSG00000107562	ENSG00000107562		"""Endogenous ligands"""	10672	protein-coding gene	gene with protein product		600835	"""stromal cell-derived factor 1"""	SDF1A, SDF1B, SDF1		7490086	Standard	NM_001033886		Approved	SCYB12, SDF-1a, SDF-1b, PBSF, TLSF-a, TLSF-b, TPAR1	uc021ppm.1	P48061	OTTHUMG00000018054	ENST00000374429.2:c.47T>C	10.37:g.44880407A>G	ENSP00000363551:p.Leu16Pro					CXCL12_ENST00000395793.3_Missense_Mutation_p.L16P|CXCL12_ENST00000496375.1_Intron|CXCL12_ENST00000395794.2_Missense_Mutation_p.L16P|CXCL12_ENST00000343575.6_Missense_Mutation_p.L16P|CXCL12_ENST00000395795.4_Missense_Mutation_p.L16P|CXCL12_ENST00000374426.2_Missense_Mutation_p.L16P	p.L16P	NM_000609.5|NM_001277990.1	NP_000600.1|NP_001264919.1	P48061	SDF1_HUMAN			1	133	-			16					B2R4G0|E7EVL0|H7BYN8|Q2L985|Q2L986|Q2L988|Q5IT36|Q6ICW0|Q9H554	Missense_Mutation	SNP	ENST00000374429.2	37	c.47T>C	CCDS44373.1	.	.	.	.	.	.	.	.	.	.	A	17.50	3.405713	0.62288	.	.	ENSG00000107562	ENST00000395795;ENST00000374429;ENST00000395793;ENST00000374426;ENST00000343575;ENST00000395794	T;T;T;T;T	0.28069	1.67;1.68;1.64;1.66;1.63	5.37	5.37	0.77165	.	0.421653	0.25813	N	0.028121	T	0.37812	0.1017	.	.	.	0.58432	D	0.999993	P;P	0.46142	0.873;0.799	P;B	0.46825	0.528;0.38	T	0.27971	-1.0058	9	0.87932	D	0	.	12.0477	0.53489	1.0:0.0:0.0:0.0	.	16;16	P48061-3;P48061	.;SDF1_HUMAN	P	16	ENSP00000379141:L16P;ENSP00000363551:L16P;ENSP00000363548:L16P;ENSP00000339913:L16P;ENSP00000379140:L16P	ENSP00000339913:L16P	L	-	2	0	CXCL12	44200413	1.000000	0.71417	1.000000	0.80357	0.109000	0.19521	4.578000	0.60929	2.151000	0.67156	0.533000	0.62120	CTC		0.781	CXCL12-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047738.2	NM_000609		6	9	0	0	0	1	0	6	9				
EXOC6	54536	broad.mit.edu	37	10	94700544	94700544	+	Missense_Mutation	SNP	A	A	G			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr10:94700544A>G	ENST00000260762.6	+	13	1287	c.1273A>G	c.(1273-1275)Aat>Gat	p.N425D	EXOC6_ENST00000371552.4_Missense_Mutation_p.N420D|EXOC6_ENST00000371547.4_Missense_Mutation_p.N441D|EXOC6_ENST00000443748.2_Missense_Mutation_p.N322D	NM_019053.4	NP_061926.3	Q8TAG9	EXOC6_HUMAN	exocyst complex component 6	425					cellular protein metabolic process (GO:0044267)|erythrocyte differentiation (GO:0030218)|membrane organization (GO:0061024)|protein transport (GO:0015031)|vesicle docking involved in exocytosis (GO:0006904)	exocyst (GO:0000145)|plasma membrane (GO:0005886)				cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	26		Colorectal(252;0.123)				AGACCAATACAATGAAACACT	0.323																																						ENST00000371552.4																			0				cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	26						c.(1258-1260)Aat>Gat		exocyst complex component 6							76.0	81.0	79.0					10																	94700544		2203	4298	6501	SO:0001583	missense	54536				protein transport|vesicle docking involved in exocytosis	exocyst		g.chr10:94700544A>G	BC028395	CCDS7424.2, CCDS31247.1	10q23.33	2013-01-22	2006-11-07	2006-11-07	ENSG00000138190	ENSG00000138190			23196	protein-coding gene	gene with protein product		609672	"""SEC15-like 1 (S. cerevisiae)"""	SEC15L1		8889548	Standard	NM_001013848		Approved	SEC15L, FLJ1125, DKFZp761I2124, MGC33397, Sec15p, EXOC6A	uc001kig.3	Q8TAG9	OTTHUMG00000018767	ENST00000260762.6:c.1273A>G	10.37:g.94700544A>G	ENSP00000260762:p.Asn425Asp					EXOC6_ENST00000260762.6_Missense_Mutation_p.N425D|EXOC6_ENST00000443748.2_Missense_Mutation_p.N322D|EXOC6_ENST00000371547.4_Missense_Mutation_p.N441D	p.N420D	NM_001013848.2	NP_001013870.1	Q8TAG9	EXOC6_HUMAN			13	1287	+		Colorectal(252;0.123)	425					E9PHI3|Q5VXH8|Q9NZ24	Missense_Mutation	SNP	ENST00000260762.6	37	c.1258A>G	CCDS7424.2	.	.	.	.	.	.	.	.	.	.	A	15.28	2.787047	0.49997	.	.	ENSG00000138190	ENST00000371547;ENST00000371552;ENST00000443748;ENST00000260762	T;T;T;T	0.33654	1.4;1.4;1.4;1.4	5.98	4.86	0.63082	.	0.218211	0.53938	D	0.000044	T	0.38931	0.1059	M	0.65975	2.015	0.53688	D	0.999971	B;P;B;B;B	0.45715	0.286;0.865;0.286;0.286;0.286	B;B;B;B;B	0.42188	0.142;0.379;0.199;0.142;0.142	T	0.41052	-0.9530	10	0.66056	D	0.02	-18.6605	11.542	0.50672	0.9307:0.0:0.0692:0.0	.	441;322;417;425;420	F2Z2Q3;E7EW84;B4DEZ1;Q8TAG9;E9PHI3	.;.;.;EXOC6_HUMAN;.	D	441;420;322;425	ENSP00000360602:N441D;ENSP00000360607:N420D;ENSP00000396206:N322D;ENSP00000260762:N425D	ENSP00000260762:N425D	N	+	1	0	EXOC6	94690524	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.319000	0.59197	2.289000	0.77006	0.482000	0.46254	AAT		0.323	EXOC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049410.2	NM_019053		7	44	0	0	0	1	0	7	44				
DCC	1630	broad.mit.edu	37	18	50451655	50451655	+	Silent	SNP	G	G	C			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr18:50451655G>C	ENST00000442544.2	+	5	1516	c.900G>C	c.(898-900)gtG>gtC	p.V300V	DCC_ENST00000412726.1_Silent_p.V148V	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	DCC netrin 1 receptor	300	Ig-like C2-type 3.				anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|axonogenesis (GO:0007409)|dorsal/ventral axon guidance (GO:0033563)|negative regulation of collateral sprouting (GO:0048671)|negative regulation of dendrite development (GO:2000171)|negative regulation of neuron projection development (GO:0010977)|neuron migration (GO:0001764)|positive regulation of apoptotic process (GO:0043065)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neuron projection development (GO:0010976)|regulation of apoptotic process (GO:0042981)|response to amphetamine (GO:0001975)|spinal cord ventral commissure morphogenesis (GO:0021965)	axon (GO:0030424)|cytosol (GO:0005829)|growth cone membrane (GO:0032584)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	netrin receptor activity (GO:0005042)|transcription coactivator activity (GO:0003713)|transmembrane signaling receptor activity (GO:0004888)			NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		TCTCCAATGTGACAGATGATG	0.378																																						ENST00000442544.2																			0				NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148						c.(898-900)gtG>gtC		deleted in colorectal carcinoma							134.0	132.0	133.0					18																	50451655		2203	4300	6503	SO:0001819	synonymous_variant	1630				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane		g.chr18:50451655G>C	X76132	CCDS11952.1	18q21.1	2014-06-20	2014-06-20		ENSG00000187323	ENSG00000187323		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2701	protein-coding gene	gene with protein product	"""immunoglobulin superfamily, DCC subclass, member 1"""	120470	"""deleted in colorectal carcinoma"""			2294591, 24400119	Standard	NM_005215		Approved	IGDCC1, NTN1R1	uc002lfe.2	P43146	OTTHUMG00000132698	ENST00000442544.2:c.900G>C	18.37:g.50451655G>C						DCC_ENST00000412726.1_Silent_p.V148V	p.V300V	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)	5	1516	+		all_cancers(7;0.11)|all_epithelial(6;0.00126)	300			Ig-like C2-type 3.			Silent	SNP	ENST00000442544.2	37	c.900G>C	CCDS11952.1																																																																																				0.378	DCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255996.3	NM_005215		93	105	0	0	0	1	0	93	105				
FAT4	79633	broad.mit.edu	37	4	126337709	126337709	+	Missense_Mutation	SNP	G	G	T			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr4:126337709G>T	ENST00000394329.3	+	6	6963	c.6950G>T	c.(6949-6951)gGa>gTa	p.G2317V	FAT4_ENST00000335110.5_Missense_Mutation_p.G615V	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN	FAT atypical cadherin 4	2317	Cadherin 22. {ECO:0000255|PROSITE- ProRule:PRU00043}.				branching involved in ureteric bud morphogenesis (GO:0001658)|cerebral cortex development (GO:0021987)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|inner ear receptor stereocilium organization (GO:0060122)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|plasma membrane organization (GO:0007009)|regulation of metanephric nephron tubule epithelial cell differentiation (GO:0072307)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						GGAGAACTTGGAGTAACACAG	0.413																																						ENST00000394329.3																			0				NS(6)|autonomic_ganglia(1)|breast(4)|central_nervous_system(3)|cervix(3)|endometrium(27)|haematopoietic_and_lymphoid_tissue(3)|kidney(10)|large_intestine(93)|liver(3)|lung(120)|ovary(9)|pancreas(2)|prostate(21)|skin(31)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(6)	355						c.(6949-6951)gGa>gTa		FAT atypical cadherin 4							261.0	250.0	254.0					4																	126337709		2203	4300	6503	SO:0001583	missense	79633				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:126337709G>T	AY356402	CCDS3732.3	4q28.1	2013-05-31	2013-05-31		ENSG00000196159	ENSG00000196159		"""Cadherins / Cadherin-related"""	23109	protein-coding gene	gene with protein product	"""cadherin-related family member 11"""	612411	"""FAT tumor suppressor homolog 4 (Drosophila)"""			15003449	Standard	NM_024582		Approved	CDHF14, FAT-J, CDHR11	uc003ifj.4	Q6V0I7	OTTHUMG00000133100	ENST00000394329.3:c.6950G>T	4.37:g.126337709G>T	ENSP00000377862:p.Gly2317Val					FAT4_ENST00000335110.5_Missense_Mutation_p.G615V	p.G2317V	NM_024582.4	NP_078858.4	Q6V0I7	FAT4_HUMAN			6	6963	+			2317			Cadherin 22.		A8K5Z6|B5MDG4|Q3LIA6|Q8TCK7|Q9H5T6	Missense_Mutation	SNP	ENST00000394329.3	37	c.6950G>T	CCDS3732.3	.	.	.	.	.	.	.	.	.	.	G	2.579	-0.297893	0.05532	.	.	ENSG00000196159	ENST00000394329;ENST00000335110	T;T	0.01745	4.66;4.66	5.22	-1.67	0.08238	Cadherin (4);Cadherin-like (1);	0.275203	0.18618	U	0.135948	T	0.00580	0.0019	N	0.00263	-1.745	0.21740	N	0.999565	B;B	0.25390	0.017;0.125	B;B	0.26310	0.054;0.068	T	0.48885	-0.8995	10	0.17369	T	0.5	.	12.4622	0.55738	0.5034:0.0:0.4966:0.0	.	615;2317	Q6V0I7-2;Q6V0I7	.;FAT4_HUMAN	V	2317;615	ENSP00000377862:G2317V;ENSP00000335169:G615V	ENSP00000335169:G615V	G	+	2	0	FAT4	126557159	0.004000	0.15560	0.192000	0.23308	0.555000	0.35460	0.209000	0.17435	-0.291000	0.09012	-0.262000	0.10625	GGA		0.413	FAT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256765.2	NM_024582		172	83	1	0	4.39862e-68	1	6.51421e-68	172	83				
CNOT4	4850	broad.mit.edu	37	7	135106967	135106967	+	Missense_Mutation	SNP	G	G	T			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr7:135106967G>T	ENST00000315544.5	-	3	589	c.310C>A	c.(310-312)Cgt>Agt	p.R104S	CNOT4_ENST00000423368.2_Missense_Mutation_p.R104S|CNOT4_ENST00000361528.4_Missense_Mutation_p.R104S|CNOT4_ENST00000356162.4_Missense_Mutation_p.R104S|CNOT4_ENST00000414802.1_Missense_Mutation_p.R104S|CNOT4_ENST00000428680.2_Missense_Mutation_p.R104S|CNOT4_ENST00000541284.1_Missense_Mutation_p.R104S|CNOT4_ENST00000451834.1_Missense_Mutation_p.R104S	NM_001190848.1	NP_001177777.1	O95628	CNOT4_HUMAN	CCR4-NOT transcription complex, subunit 4	104					gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|protein autoubiquitination (GO:0051865)|RNA metabolic process (GO:0016070)	cytosol (GO:0005829)|nucleus (GO:0005634)	ligase activity (GO:0016874)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1)	22						TGTACGACACGTACACTAGCC	0.378																																					Ovarian(51;766 1130 5502 35047 50875)	ENST00000428680.2																			0				autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1)	22						c.(310-312)Cgt>Agt		CCR4-NOT transcription complex, subunit 4							178.0	165.0	169.0					7																	135106967		1852	4091	5943	SO:0001583	missense	4850				nuclear-transcribed mRNA poly(A) tail shortening|protein autoubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	nucleotide binding|protein binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr7:135106967G>T	AF180475	CCDS43650.1, CCDS47719.1, CCDS55164.1, CCDS55165.1, CCDS55166.1, CCDS55167.1	7q33	2013-09-19			ENSG00000080802	ENSG00000080802		"""RNA binding motif (RRM) containing"""	7880	protein-coding gene	gene with protein product		604911		NOT4		10637334	Standard	NM_013316		Approved	CLONE243, NOT4H	uc011kpy.2	O95628	OTTHUMG00000155568	ENST00000315544.5:c.310C>A	7.37:g.135106967G>T	ENSP00000326731:p.Arg104Ser					CNOT4_ENST00000361528.4_Missense_Mutation_p.R104S|CNOT4_ENST00000356162.4_Missense_Mutation_p.R104S|CNOT4_ENST00000451834.1_Missense_Mutation_p.R104S|CNOT4_ENST00000414802.1_Missense_Mutation_p.R104S|CNOT4_ENST00000541284.1_Missense_Mutation_p.R104S|CNOT4_ENST00000423368.2_Missense_Mutation_p.R104S|CNOT4_ENST00000315544.5_Missense_Mutation_p.R104S	p.R104S	NM_001008225.2	NP_001008226.1	O95628	CNOT4_HUMAN			3	589	-			104					B7Z6I4|E7ET38|F8VQP3|O95339|O95627|Q8IYM7|Q8NCL0|Q9NPQ1|Q9NZN6	Missense_Mutation	SNP	ENST00000315544.5	37	c.310C>A	CCDS55166.1	.	.	.	.	.	.	.	.	.	.	G	25.0	4.590663	0.86851	.	.	ENSG00000080802	ENST00000541284;ENST00000451834;ENST00000423368;ENST00000262563;ENST00000361528;ENST00000414802;ENST00000356162;ENST00000428680;ENST00000315544	T;T;T;T;T;T;T;T	0.40756	1.02;1.02;1.02;1.02;1.02;1.02;1.02;1.02	5.97	5.04	0.67666	.	0.000000	0.85682	D	0.000000	T	0.72431	0.3459	M	0.92604	3.325	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;0.992;0.992	D;D;D;D;D;D	0.87578	0.988;0.998;0.993;0.998;0.969;0.969	T	0.79092	-0.1945	10	0.87932	D	0	-7.4116	16.0252	0.80538	0.0:0.0:0.8651:0.1349	.	104;104;104;104;104;104	E7ET38;F8VQP3;O95628;O95628-2;O95628-4;O95628-8	.;.;CNOT4_HUMAN;.;.;.	S	104	ENSP00000445508:R104S;ENSP00000388491:R104S;ENSP00000406777:R104S;ENSP00000354673:R104S;ENSP00000416532:R104S;ENSP00000348485:R104S;ENSP00000399108:R104S;ENSP00000326731:R104S	ENSP00000262563:R104S	R	-	1	0	CNOT4	134757507	1.000000	0.71417	0.999000	0.59377	0.995000	0.86356	6.331000	0.72929	2.836000	0.97738	0.655000	0.94253	CGT		0.378	CNOT4-201	KNOWN	basic|CCDS	protein_coding	protein_coding		NM_013316		67	135	1	0	2.26907e-38	1	3.1127e-38	67	135				
SCRIB	23513	broad.mit.edu	37	8	144892747	144892747	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr8:144892747G>A	ENST00000320476.3	-	13	1438	c.1432C>T	c.(1432-1434)Ccc>Tcc	p.P478S	MIR937_ENST00000401271.1_RNA|SCRIB_ENST00000356994.2_Missense_Mutation_p.P478S|SCRIB_ENST00000377533.3_Missense_Mutation_p.P397S	NM_015356.4	NP_056171	Q14160	SCRIB_HUMAN	scribbled planar cell polarity protein	478	Sufficient for targeting to adherens junction and to inhibit cell proliferation.				activation of Rac GTPase activity (GO:0032863)|apoptotic process involved in morphogenesis (GO:0060561)|astrocyte cell migration (GO:0043615)|asymmetric protein localization (GO:0008105)|auditory receptor cell stereocilium organization (GO:0060088)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cochlear nucleus development (GO:0021747)|establishment of apical/basal cell polarity (GO:0035089)|mammary gland duct morphogenesis (GO:0060603)|negative regulation of mitotic cell cycle (GO:0045930)|neural tube closure (GO:0001843)|positive chemotaxis (GO:0050918)|positive regulation of apoptotic process (GO:0043065)|positive regulation of receptor recycling (GO:0001921)|protein localization to adherens junction (GO:0071896)|single organismal cell-cell adhesion (GO:0016337)|synaptic vesicle endocytosis (GO:0048488)|synaptic vesicle targeting (GO:0016080)|viral process (GO:0016032)|wound healing (GO:0042060)	basolateral plasma membrane (GO:0016323)|cell projection (GO:0042995)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|myelin sheath abaxonal region (GO:0035748)|plasma membrane (GO:0005886)|Scrib-APC-beta-catenin complex (GO:0034750)				NS(1)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	42	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)			AGCTCGCTGGGGTGAGGTGTG	0.667																																					Pancreas(51;966 1133 10533 14576 29674)	ENST00000356994.2																			0				NS(1)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(20)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	42						c.(1432-1434)Ccc>Tcc		scribbled planar cell polarity protein							107.0	111.0	110.0					8																	144892747		2203	4300	6503	SO:0001583	missense	23513				activation of Rac GTPase activity|apoptosis involved in morphogenesis|cell migration|cell proliferation|cell-cell adhesion|establishment of apical/basal cell polarity|interspecies interaction between organisms|mammary gland duct morphogenesis|negative regulation of mitotic cell cycle|positive chemotaxis|positive regulation of apoptosis|positive regulation of receptor recycling|protein localization to adherens junction	cell-cell adherens junction|Scrib-APC-beta-catenin complex	protein binding	g.chr8:144892747G>A	AY062238	CCDS6411.1, CCDS6412.1	8q24.3	2013-03-05	2013-03-05		ENSG00000180900	ENSG00000180900			30377	protein-coding gene	gene with protein product		607733	"""scribbled homolog (Drosophila)"""			11027293, 14681682	Standard	NM_182706		Approved	KIAA0147, SCRB1, Vartul	uc003yzo.1	Q14160	OTTHUMG00000165154	ENST00000320476.3:c.1432C>T	8.37:g.144892747G>A	ENSP00000322938:p.Pro478Ser					SCRIB_ENST00000377533.3_Missense_Mutation_p.P397S|SCRIB_ENST00000320476.3_Missense_Mutation_p.P478S	p.P478S	NM_182706.4	NP_874365.3	Q14160	SCRIB_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;2.46e-41)|Epithelial(56;1.23e-39)|all cancers(56;1.12e-34)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.18)		13	1438	-	all_cancers(97;2.31e-11)|all_epithelial(106;1.58e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		478			Sufficient for targeting to adherens junction and to inhibit cell proliferation.		Q6P496|Q7Z5D1|Q8WWV8|Q96C69|Q96GG1	Missense_Mutation	SNP	ENST00000320476.3	37	c.1432C>T	CCDS6411.1	.	.	.	.	.	.	.	.	.	.	G	26.3	4.722786	0.89298	.	.	ENSG00000180900	ENST00000356994;ENST00000320476;ENST00000377533	T;T;T	0.75938	-0.98;-0.98;-0.98	4.09	4.09	0.47781	.	.	.	.	.	D	0.85336	0.5673	M	0.76170	2.325	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	D	0.87679	0.2546	9	0.72032	D	0.01	.	15.6438	0.77033	0.0:0.0:1.0:0.0	.	478;478	Q14160;Q14160-3	SCRIB_HUMAN;.	S	478;478;397	ENSP00000349486:P478S;ENSP00000322938:P478S;ENSP00000366756:P397S	ENSP00000322938:P478S	P	-	1	0	SCRIB	144964735	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.164000	0.94755	1.995000	0.58328	0.563000	0.77884	CCC		0.667	SCRIB-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000382215.1	NM_015356		245	465	0	0	0	1	0	245	465				
BSPRY	54836	broad.mit.edu	37	9	116122898	116122898	+	Silent	SNP	C	C	A			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr9:116122898C>A	ENST00000374183.4	+	3	451	c.412C>A	c.(412-414)Cgg>Agg	p.R138R	BSPRY_ENST00000462085.1_3'UTR	NM_017688.2	NP_060158.2	Q5W0U4	BSPRY_HUMAN	B-box and SPRY domain containing	138					calcium ion transport (GO:0006816)	cell leading edge (GO:0031252)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)	zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|kidney(1)|lung(4)|urinary_tract(1)	8						CGAAGAGGAGCGGGCCCACCA	0.612																																						ENST00000374183.4																			0				breast(1)|endometrium(1)|kidney(1)|lung(4)|urinary_tract(1)	8						c.(412-414)Cgg>Agg		B-box and SPRY domain containing							50.0	58.0	55.0					9																	116122898		2181	4275	6456	SO:0001819	synonymous_variant	54836				calcium ion transport	cytoplasm|membrane	zinc ion binding	g.chr9:116122898C>A	AJ276691	CCDS43868.1	9q33.1	2008-02-05			ENSG00000119411	ENSG00000119411			18232	protein-coding gene	gene with protein product						10978534, 11099500	Standard	NM_017688		Approved	FLJ20150	uc004bhg.4	Q5W0U4	OTTHUMG00000021006	ENST00000374183.4:c.412C>A	9.37:g.116122898C>A						BSPRY_ENST00000462085.1_3'UTR	p.R138R	NM_017688.2	NP_060158.2	Q5W0U4	BSPRY_HUMAN			3	451	+			138					B3KS19|Q96DJ2|Q9H4E4|Q9NXN0	Silent	SNP	ENST00000374183.4	37	c.412C>A	CCDS43868.1																																																																																				0.612	BSPRY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055399.1	NM_017688		3	33	1	0	0.00024832	1	0.000254261	3	33				
NRG1	3084	broad.mit.edu	37	8	32621347	32621347	+	Silent	SNP	G	G	A			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr8:32621347G>A	ENST00000405005.3	+	12	1350	c.1350G>A	c.(1348-1350)tcG>tcA	p.S450S	NRG1_ENST00000287845.5_Silent_p.S421S|NRG1_ENST00000338921.4_Silent_p.S458S|NRG1_ENST00000539990.1_Silent_p.S293S|NRG1_ENST00000287842.3_Silent_p.S447S|NRG1_ENST00000519301.1_Silent_p.S400S|NRG1_ENST00000341377.5_3'UTR|NRG1_ENST00000356819.4_Silent_p.S455S|NRG1_ENST00000521670.1_3'UTR|RP11-1002K11.1_ENST00000607314.1_lincRNA			Q02297	NRG1_HUMAN	neuregulin 1	450					activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|cardiac conduction system development (GO:0003161)|cardiac muscle cell differentiation (GO:0055007)|cardiac muscle cell myoblast differentiation (GO:0060379)|cell communication (GO:0007154)|cell migration (GO:0016477)|cell morphogenesis (GO:0000902)|cell proliferation (GO:0008283)|cellular protein complex disassembly (GO:0043624)|embryo development (GO:0009790)|endocardial cell differentiation (GO:0060956)|epidermal growth factor receptor signaling pathway (GO:0007173)|ERBB signaling pathway (GO:0038127)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glial cell fate commitment (GO:0021781)|innate immune response (GO:0045087)|locomotory behavior (GO:0007626)|mammary gland development (GO:0030879)|MAPK cascade (GO:0000165)|negative regulation of cardiac muscle cell apoptotic process (GO:0010667)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of protein catabolic process (GO:0042177)|negative regulation of secretion (GO:0051048)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|neural crest cell development (GO:0014032)|neuron fate commitment (GO:0048663)|neurotransmitter receptor metabolic process (GO:0045213)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peripheral nervous system development (GO:0007422)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell growth (GO:0030307)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of Ras protein signal transduction (GO:0046579)|positive regulation of striated muscle cell differentiation (GO:0051155)|regulation of protein heterodimerization activity (GO:0043497)|regulation of protein homodimerization activity (GO:0043496)|synapse assembly (GO:0007416)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|ventricular cardiac muscle cell differentiation (GO:0055012)|ventricular trabecula myocardium morphogenesis (GO:0003222)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|axon (GO:0030424)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)	cytokine activity (GO:0005125)|ErbB-3 class receptor binding (GO:0043125)|growth factor activity (GO:0008083)|protein tyrosine kinase activator activity (GO:0030296)|receptor binding (GO:0005102)|receptor tyrosine kinase binding (GO:0030971)|transcription cofactor activity (GO:0003712)|transmembrane receptor protein tyrosine kinase activator activity (GO:0030297)	p.S455S(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(1)|skin(1)	39		Breast(100;0.203)		KIRC - Kidney renal clear cell carcinoma(67;0.0768)|Kidney(114;0.0943)		CGCCCCCTTCGGAAATGTCTC	0.562																																						ENST00000338921.4																			1	Substitution - coding silent(1)	p.S455S(1)	large_intestine(1)	endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(18)|ovary(1)|prostate(1)|skin(1)	39						c.(1372-1374)tcG>tcA		neuregulin 1							107.0	104.0	105.0					8																	32621347		2203	4300	6503	SO:0001819	synonymous_variant	3084				activation of transmembrane receptor protein tyrosine kinase activity|anti-apoptosis|cardiac muscle cell differentiation|cell communication|cell proliferation|cellular protein complex disassembly|embryo development|mammary gland development|negative regulation of cardiac muscle cell apoptosis|negative regulation of secretion|negative regulation of transcription, DNA-dependent|nervous system development|neural crest cell development|Notch signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell adhesion|positive regulation of cell growth|positive regulation of striated muscle cell differentiation|regulation of protein heterodimerization activity|regulation of protein homodimerization activity|transmembrane receptor protein tyrosine kinase signaling pathway|ventricular cardiac muscle cell differentiation|wound healing	apical plasma membrane|extracellular region|extracellular space|integral to membrane|nucleus|plasma membrane	cytokine activity|ErbB-3 class receptor binding|growth factor activity|protein binding|protein tyrosine kinase activator activity|receptor tyrosine kinase binding|transcription cofactor activity|transmembrane receptor protein tyrosine kinase activator activity	g.chr8:32621347G>A	L12261	CCDS6084.1, CCDS6085.1, CCDS6086.1, CCDS6087.1, CCDS47836.1, CCDS55218.1, CCDS55219.1, CCDS75727.1	8p21-p12	2014-06-23			ENSG00000157168	ENSG00000157168		"""Immunoglobulin superfamily / I-set domain containing"""	7997	protein-coding gene	gene with protein product		142445	"""NRG1 intronic transcript 2 (non-protein coding)"""	HGL, NRG1-IT2		1350381, 8095334	Standard	NM_013962		Approved	HRG, NDF, GGF	uc003xiu.2	Q02297	OTTHUMG00000163918	ENST00000405005.3:c.1350G>A	8.37:g.32621347G>A						NRG1_ENST00000287842.3_Silent_p.S447S|NRG1_ENST00000519301.1_Silent_p.S400S|NRG1_ENST00000341377.5_3'UTR|NRG1_ENST00000287840.5_Silent_p.S450S|NRG1_ENST00000539990.1_Silent_p.S293S|NRG1_ENST00000521670.1_3'UTR|NRG1_ENST00000356819.4_Silent_p.S455S|NRG1_ENST00000405005.2_Silent_p.S450S|NRG1_ENST00000287845.5_Silent_p.S421S	p.S458S			Q02297	NRG1_HUMAN		KIRC - Kidney renal clear cell carcinoma(67;0.0768)|Kidney(114;0.0943)	13	1891	+		Breast(100;0.203)	450					A5YAK4|A5YAK5|A8K1L2|B7Z4Z3|E9PHH4|O14667|P98202|Q02298|Q02299|Q07110|Q07111|Q12779|Q12780|Q12781|Q12782|Q12783|Q12784|Q15491|Q7RTV9|Q7RTW0|Q7RTW1|Q7RTW2|Q8NFN1|Q8NFN2|Q8NFN3|Q9UPE3	Silent	SNP	ENST00000405005.3	37	c.1374G>A	CCDS6085.1																																																																																				0.562	NRG1-017	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000472504.1			49	363	0	0	0	1	0	49	363				
ZNF572	137209	broad.mit.edu	37	8	125989245	125989245	+	Silent	SNP	A	A	G			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr8:125989245A>G	ENST00000319286.5	+	3	889	c.735A>G	c.(733-735)gaA>gaG	p.E245E		NM_152412.2	NP_689625.2	Q7Z3I7	ZN572_HUMAN	zinc finger protein 572	245					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(3)	31	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)			AACCATATGAATGTTCTGTCT	0.448										HNSCC(60;0.17)																												ENST00000319286.5																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(3)|skin(2)|upper_aerodigestive_tract(3)	31						c.(733-735)gaA>gaG		zinc finger protein 572							67.0	66.0	66.0					8																	125989245		2203	4299	6502	SO:0001819	synonymous_variant	137209				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr8:125989245A>G	BX537876	CCDS6354.1	8q24.13	2013-09-20			ENSG00000180938	ENSG00000180938		"""Zinc fingers, C2H2-type"""	26758	protein-coding gene	gene with protein product							Standard	NM_152412		Approved	FLJ38002	uc003yrr.3	Q7Z3I7	OTTHUMG00000164988	ENST00000319286.5:c.735A>G	8.37:g.125989245A>G		HNSCC(60;0.17)					p.E245E	NM_152412.2	NP_689625.2	Q7Z3I7	ZN572_HUMAN	STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)		3	889	+	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		245					A1L4F1|Q8N1Q0	Silent	SNP	ENST00000319286.5	37	c.735A>G	CCDS6354.1																																																																																				0.448	ZNF572-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381359.1	NM_152412		103	120	0	0	0	1	0	103	120				
PPP1R9A	55607	broad.mit.edu	37	7	94897988	94897988	+	Missense_Mutation	SNP	C	C	G			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr7:94897988C>G	ENST00000433881.1	+	12	3258	c.2726C>G	c.(2725-2727)tCc>tGc	p.S909C	PPP1R9A_ENST00000289495.5_Missense_Mutation_p.S909C|PPP1R9A_ENST00000340694.4_Missense_Mutation_p.S909C|PPP1R9A_ENST00000433360.1_Missense_Mutation_p.S931C|PPP1R9A_ENST00000456331.2_Missense_Mutation_p.S909C|PPP1R9A_ENST00000424654.1_Missense_Mutation_p.S909C			Q9ULJ8	NEB1_HUMAN	protein phosphatase 1, regulatory subunit 9A	909	Interacts with TGN38. {ECO:0000250}.				actin filament organization (GO:0007015)|calcium-mediated signaling (GO:0019722)|neuron projection development (GO:0031175)	cell junction (GO:0030054)|cortical actin cytoskeleton (GO:0030864)|dendritic spine (GO:0043197)|filopodium (GO:0030175)|growth cone (GO:0030426)|synapse (GO:0045202)				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(11)|liver(2)|lung(22)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(8)|urinary_tract(5)	71	all_cancers(62;9.12e-11)|all_epithelial(64;4.34e-09)		STAD - Stomach adenocarcinoma(171;0.0031)			AGTGTTAGTTCCACAGATGGG	0.473										HNSCC(28;0.073)																												ENST00000289495.5																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(11)|liver(2)|lung(22)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(8)|urinary_tract(5)	71						c.(2725-2727)tCc>tGc		protein phosphatase 1, regulatory subunit 9A							116.0	97.0	103.0					7																	94897988		2203	4300	6503	SO:0001583	missense	55607					cell junction|synapse|synaptosome	actin binding	g.chr7:94897988C>G	AB033048	CCDS34683.1, CCDS55127.1, CCDS55128.1	7q21.3	2013-01-10	2011-10-04		ENSG00000158528	ENSG00000158528		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Sterile alpha motif (SAM) domain containing"""	14946	protein-coding gene	gene with protein product		602468	"""protein phosphatase 1, regulatory (inhibitor) subunit 9A"""			10574462	Standard	NM_001166160		Approved	Neurabin-I, KIAA1222, FLJ20068	uc010lfj.3	Q9ULJ8	OTTHUMG00000155566	ENST00000433881.1:c.2726C>G	7.37:g.94897988C>G	ENSP00000398870:p.Ser909Cys	HNSCC(28;0.073)				PPP1R9A_ENST00000424654.1_Missense_Mutation_p.S909C|PPP1R9A_ENST00000340694.4_Missense_Mutation_p.S909C|PPP1R9A_ENST00000433360.1_Missense_Mutation_p.S931C|PPP1R9A_ENST00000456331.2_Missense_Mutation_p.S909C|PPP1R9A_ENST00000433881.1_Missense_Mutation_p.S909C	p.S909C	NM_001166161.1	NP_001159633.1	Q9ULJ8	NEB1_HUMAN	STAD - Stomach adenocarcinoma(171;0.0031)		11	2942	+	all_cancers(62;9.12e-11)|all_epithelial(64;4.34e-09)		909			Interacts with TGN38 (By similarity).		A1L494|B2RWQ1|E9PCA0|E9PCK6|E9PDX1|F8W7J9|O76059|Q9NXT2	Missense_Mutation	SNP	ENST00000433881.1	37	c.2726C>G	CCDS34683.1	.	.	.	.	.	.	.	.	.	.	C	15.27	2.784460	0.49997	.	.	ENSG00000158528	ENST00000433360;ENST00000340694;ENST00000424654;ENST00000433881;ENST00000289495;ENST00000456331	T;T;T;T;T;T	0.20332	2.12;2.24;2.08;2.24;2.14;2.08	5.58	5.58	0.84498	.	0.196874	0.34531	N	0.003881	T	0.39911	0.1096	L	0.38175	1.15	0.46749	D	0.999186	D;D;P;D;D	0.89917	0.999;1.0;0.858;1.0;0.999	P;D;P;D;D	0.85130	0.894;0.976;0.459;0.997;0.921	T	0.04281	-1.0963	10	0.48119	T	0.1	.	19.9662	0.97271	0.0:1.0:0.0:0.0	.	909;909;931;909;909	B7ZLX4;F8W7J9;E9PDX1;E9PCK6;Q9ULJ8	.;.;.;.;NEB1_HUMAN	C	931;909;909;909;909;909	ENSP00000405514:S931C;ENSP00000344524:S909C;ENSP00000411342:S909C;ENSP00000398870:S909C;ENSP00000289495:S909C;ENSP00000402893:S909C	ENSP00000289495:S909C	S	+	2	0	PPP1R9A	94735924	1.000000	0.71417	0.900000	0.35374	0.058000	0.15608	7.042000	0.76565	2.793000	0.96121	0.655000	0.94253	TCC		0.473	PPP1R9A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340662.1	NM_001166160		21	98	0	0	0	1	0	21	98				
SSH3	54961	broad.mit.edu	37	11	67075021	67075021	+	Splice_Site	SNP	G	G	T			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr11:67075021G>T	ENST00000308127.4	+	7	782	c.604G>T	c.(604-606)Gcc>Tcc	p.A202S	SSH3_ENST00000532181.1_Intron|SSH3_ENST00000308298.7_Splice_Site_p.A202S|SSH3_ENST00000376757.5_Splice_Site_p.A202S	NM_017857.3	NP_060327.3	Q8TE77	SSH3_HUMAN	slingshot protein phosphatase 3	202					protein dephosphorylation (GO:0006470)|regulation of actin polymerization or depolymerization (GO:0008064)|regulation of axonogenesis (GO:0050770)|regulation of lamellipodium assembly (GO:0010591)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	actin binding (GO:0003779)|DNA binding (GO:0003677)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			NS(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)			CTGTCTCAGGGCCACACTCCA	0.642																																						ENST00000308127.4																			0				NS(1)|breast(2)|cervix(1)|kidney(1)|large_intestine(3)|lung(6)|ovary(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.e7-1		slingshot protein phosphatase 3							59.0	59.0	59.0					11																	67075021		2200	4295	6495	SO:0001630	splice_region_variant	54961				regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly	cytoplasm|cytoskeleton|nucleus	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr11:67075021G>T	AF085851	CCDS8157.1	11q13	2013-03-05	2013-03-05		ENSG00000172830	ENSG00000172830		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Slingshots"""	30581	protein-coding gene	gene with protein product		606780	"""slingshot homolog 3 (Drosophila)"""			11832213	Standard	NM_017857		Approved	FLJ20515, FLJ10928	uc001okj.3	Q8TE77	OTTHUMG00000167105	ENST00000308127.4:c.603-1G>T	11.37:g.67075021G>T						SSH3_ENST00000308298.7_Splice_Site_p.A202_splice|SSH3_ENST00000376757.5_Splice_Site_p.A202_splice|SSH3_ENST00000532181.1_Intron	p.A202_splice	NM_017857.3	NP_060327.3	Q8TE77	SSH3_HUMAN	BRCA - Breast invasive adenocarcinoma(15;2.26e-06)		7	782	+			202					Q6PK42|Q76I75|Q8N9L8|Q8WYL0|Q9NV45|Q9NWZ7	Splice_Site	SNP	ENST00000308127.4	37	c.602_splice	CCDS8157.1	.	.	.	.	.	.	.	.	.	.	G	2.341	-0.351076	0.05173	.	.	ENSG00000172830	ENST00000308127;ENST00000308298;ENST00000376757	T;T;T	0.39592	1.07;1.07;1.07	4.5	4.5	0.54988	.	0.105332	0.39544	N	0.001330	T	0.18759	0.0450	N	0.05467	-0.045	0.40299	D	0.978581	B;B	0.23854	0.092;0.02	B;B	0.22880	0.042;0.014	T	0.11966	-1.0566	10	0.02654	T	1	-18.8432	10.407	0.44266	0.0:0.0:0.8049:0.1951	.	56;202	Q8TE77-3;Q8TE77	.;SSH3_HUMAN	S	202	ENSP00000312081:A202S;ENSP00000310055:A202S;ENSP00000365948:A202S	ENSP00000312081:A202S	A	+	1	0	SSH3	66831597	1.000000	0.71417	1.000000	0.80357	0.649000	0.38597	1.958000	0.40402	2.241000	0.73720	0.462000	0.41574	GCC		0.642	SSH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393167.1	NM_018276	Missense_Mutation	31	80	1	0	1.99505e-19	1	2.46076e-19	31	80				
MACF1	23499	broad.mit.edu	37	1	39889837	39889837	+	Missense_Mutation	SNP	G	G	T			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr1:39889837G>T	ENST00000372915.3	+	60	16389	c.16302G>T	c.(16300-16302)tgG>tgT	p.W5434C	MACF1_ENST00000289893.4_Missense_Mutation_p.W3869C|MACF1_ENST00000567887.1_Missense_Mutation_p.W5466C|MACF1_ENST00000317713.7_Missense_Mutation_p.W3367C|MACF1_ENST00000564288.1_Missense_Mutation_p.W5429C|MACF1_ENST00000539005.1_Missense_Mutation_p.W3346C|MACF1_ENST00000361689.2_Missense_Mutation_p.W3367C|MACF1_ENST00000545844.1_Missense_Mutation_p.W3367C			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	5434					ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|Golgi to plasma membrane protein transport (GO:0043001)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of epithelial cell migration (GO:0010632)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule-based process (GO:0032886)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			AAAGTAGATGGACTGAACTAC	0.443																																						ENST00000564288.1																			0				breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203						c.(16285-16287)tgG>tgT		microtubule-actin crosslinking factor 1							90.0	90.0	90.0					1																	39889837		2203	4300	6503	SO:0001583	missense	23499				cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding	g.chr1:39889837G>T	AB007934	CCDS435.1	1p32-p31	2013-01-10			ENSG00000127603	ENSG00000127603		"""EF-hand domain containing"""	13664	protein-coding gene	gene with protein product	"""actin cross-linking factor"", ""620 kDa actin binding protein"", ""macrophin 1"", ""trabeculin-alpha"", ""actin cross-linking family protein 7"""	608271				7635207, 10529403	Standard	NM_012090		Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	Q9UPN3	OTTHUMG00000007754	ENST00000372915.3:c.16302G>T	1.37:g.39889837G>T	ENSP00000362006:p.Trp5434Cys					MACF1_ENST00000545844.1_Missense_Mutation_p.W3367C|MACF1_ENST00000289893.4_Missense_Mutation_p.W3869C|MACF1_ENST00000567887.1_Missense_Mutation_p.W5466C|MACF1_ENST00000317713.7_Missense_Mutation_p.W3367C|MACF1_ENST00000361689.2_Missense_Mutation_p.W3367C|MACF1_ENST00000539005.1_Missense_Mutation_p.W3346C|MACF1_ENST00000372915.3_Missense_Mutation_p.W5434C	p.W5429C			Q9UPN3	MACF1_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)		61	17064	+	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	5434					B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Missense_Mutation	SNP	ENST00000372915.3	37	c.16287G>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	25.7|25.7	4.664788|4.664788	0.88251|0.88251	.|.	.|.	ENSG00000127603|ENSG00000127603	ENST00000372925|ENST00000545844;ENST00000372915;ENST00000361689;ENST00000317713;ENST00000539005;ENST00000289893;ENST00000482035	.|T;T;T;T;T;T;T	.|0.68903	.|-0.36;-0.36;-0.36;-0.36;-0.36;-0.36;-0.36	5.48|5.48	5.48|5.48	0.80851|0.80851	.|.	.|0.000000	.|0.56097	.|D	.|0.000023	D|D	0.85470|0.85470	0.5704|0.5704	M|M	0.88979|0.88979	2.995|2.995	0.80722|0.80722	D|D	1|1	.|D;D;D	.|0.89917	.|1.0;1.0;1.0	.|D;D;D	.|0.97110	.|0.999;1.0;0.999	D|D	0.87902|0.87902	0.2691|0.2691	5|10	.|0.87932	.|D	.|0	.|.	19.3488|19.3488	0.94376|0.94376	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|5434;3367;3311	.|Q9UPN3;F8W8Q1;Q9UPN3-3	.|MACF1_HUMAN;.;.	Y|C	2480|3367;5434;3367;3367;3346;3869;183	.|ENSP00000439537:W3367C;ENSP00000362006:W5434C;ENSP00000354573:W3367C;ENSP00000313438:W3367C;ENSP00000444364:W3346C;ENSP00000289893:W3869C;ENSP00000433104:W183C	.|ENSP00000289893:W3869C	D|W	+|+	1|3	0|0	MACF1|MACF1	39662424|39662424	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.990000|0.990000	0.78478|0.78478	9.624000|9.624000	0.98398|0.98398	2.569000|2.569000	0.86673|0.86673	0.655000|0.655000	0.94253|0.94253	GAC|TGG		0.443	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000392096.1	NM_033044		44	75	1	0	2.47872e-24	1	3.14805e-24	44	75				
PNKP	11284	broad.mit.edu	37	19	50370414	50370414	+	Silent	SNP	A	A	G			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr19:50370414A>G	ENST00000322344.3	-	2	157	c.48T>C	c.(46-48)ccT>ccC	p.P16P	PNKP_ENST00000600910.1_Silent_p.P16P|PNKP_ENST00000596014.1_Silent_p.P16P|PNKP_ENST00000595792.1_5'UTR|PNKP_ENST00000600573.1_Silent_p.P16P	NM_007254.3	NP_009185.2	Q96T60	PNKP_HUMAN	polynucleotide kinase 3'-phosphatase	16	FHA.				dephosphorylation (GO:0016311)|DNA damage response, detection of DNA damage (GO:0042769)|DNA repair (GO:0006281)|DNA-dependent DNA replication (GO:0006261)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleotide phosphorylation (GO:0046939)|nucleotide-excision repair, DNA damage removal (GO:0000718)|polynucleotide 3' dephosphorylation (GO:0098506)|response to oxidative stress (GO:0006979)|response to radiation (GO:0009314)	membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity (GO:0046404)|damaged DNA binding (GO:0003684)|double-stranded DNA binding (GO:0003690)|endonuclease activity (GO:0004519)|nucleotide kinase activity (GO:0019201)|polynucleotide 3'-phosphatase activity (GO:0046403)|purine nucleotide binding (GO:0017076)	p.P16P(8)		breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|urinary_tract(1)	19		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		GBM - Glioblastoma multiforme(134;0.0118)|OV - Ovarian serous cystadenocarcinoma(262;0.0134)		GCGCTCCCCCAGGGGGGCTCT	0.721								Other BER factors																														ENST00000322344.3																			8	Substitution - coding silent(8)	p.P16P(8)	lung(6)|urinary_tract(2)	breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|urinary_tract(1)	19						c.(46-48)ccT>ccC	Other BER factors	polynucleotide kinase 3'-phosphatase							10.0	13.0	12.0					19																	50370414		2073	4105	6178	SO:0001819	synonymous_variant	11284				DNA damage response, detection of DNA damage|DNA-dependent DNA replication|nucleotide-excision repair, DNA damage removal|response to oxidative stress|response to radiation	nucleolus	ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|damaged DNA binding|double-stranded DNA binding|endonuclease activity|nucleotide kinase activity|polynucleotide 3'-phosphatase activity|protein binding	g.chr19:50370414A>G	AF126486	CCDS12783.1	19q13.3-q13.4	2008-02-05				ENSG00000039650			9154	protein-coding gene	gene with protein product		605610				10446192, 10446193	Standard	NM_007254		Approved	PNK	uc002pqj.3	Q96T60		ENST00000322344.3:c.48T>C	19.37:g.50370414A>G						PNKP_ENST00000600910.1_Silent_p.P16P|PNKP_ENST00000600573.1_Silent_p.P16P|PNKP_ENST00000595792.1_5'UTR|PNKP_ENST00000596014.1_Silent_p.P16P	p.P16P	NM_007254.3	NP_009185.2	Q96T60	PNKP_HUMAN		GBM - Glioblastoma multiforme(134;0.0118)|OV - Ovarian serous cystadenocarcinoma(262;0.0134)	2	157	-		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)	16					Q9BUL2|Q9P1V2|Q9UKU8|Q9UNF8|Q9UNI0	Silent	SNP	ENST00000322344.3	37	c.48T>C	CCDS12783.1																																																																																				0.721	PNKP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465830.1	NM_007254		12	123	0	0	0	1	0	12	123				
SLC9C2	284525	broad.mit.edu	37	1	173478767	173478767	+	Missense_Mutation	SNP	T	T	C			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr1:173478767T>C	ENST00000367714.3	-	24	3401	c.2979A>G	c.(2977-2979)atA>atG	p.I993M	SLC9C2_ENST00000466087.1_5'UTR	NM_178527.3	NP_848622.2	Q5TAH2	SL9C2_HUMAN	solute carrier family 9, member C2 (putative)	993					sodium ion transport (GO:0006814)	integral component of membrane (GO:0016021)	solute:proton antiporter activity (GO:0015299)										GCTTTAGCCATATTTTATATT	0.353																																						ENST00000367714.3																			0											c.(2977-2979)atA>atG		solute carrier family 9, member C2 (putative)							35.0	36.0	35.0					1																	173478767		2203	4300	6503	SO:0001583	missense	284525				sodium ion transport	integral to membrane	ion channel activity|solute:hydrogen antiporter activity	g.chr1:173478767T>C	AK128104	CCDS1308.1	1q25.1	2013-07-18	2013-07-18	2012-03-22	ENSG00000162753	ENSG00000162753		"""Solute carriers"""	28664	protein-coding gene	gene with protein product			"""solute carrier family 9, isoform 11"", ""solute carrier family 9, member 11"", ""solute carrier family 9, member C2"""	SLC9A11			Standard	NM_178527		Approved	MGC43026	uc001giz.2	Q5TAH2	OTTHUMG00000034800	ENST00000367714.3:c.2979A>G	1.37:g.173478767T>C	ENSP00000356687:p.Ile993Met					SLC9C2_ENST00000466087.1_5'UTR	p.I993M	NM_178527.3	NP_848622.2	Q5TAH2	S9A11_HUMAN			24	3401	-			993					Q86UF3	Missense_Mutation	SNP	ENST00000367714.3	37	c.2979A>G	CCDS1308.1	.	.	.	.	.	.	.	.	.	.	T	2.938	-0.219641	0.06061	.	.	ENSG00000162753	ENST00000367714	T	0.04654	3.58	5.64	-0.715	0.11215	Cyclic nucleotide-binding domain (1);	0.188700	0.37577	N	0.002032	T	0.00608	0.0020	N	0.13235	0.315	0.80722	D	1	B	0.32918	0.39	B	0.24541	0.054	T	0.45833	-0.9234	10	0.09843	T	0.71	-32.1022	4.4365	0.11552	0.0:0.2418:0.3168:0.4415	.	993	Q5TAH2	S9A11_HUMAN	M	993	ENSP00000356687:I993M	ENSP00000356687:I993M	I	-	3	3	SLC9A11	171745390	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	0.321000	0.19558	0.071000	0.16664	0.533000	0.62120	ATA		0.353	SLC9C2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084205.1	NM_178527		14	32	0	0	0	1	0	14	32				
PON1	5444	broad.mit.edu	37	7	94953716	94953716	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr7:94953716G>T	ENST00000222381.3	-	1	303	c.72C>A	c.(70-72)taC>taA	p.Y24*	PON1_ENST00000542556.1_Intron	NM_000446.5	NP_000437.3	P27169	PON1_HUMAN	paraoxonase 1	24					aromatic compound catabolic process (GO:0019439)|carboxylic acid catabolic process (GO:0046395)|dephosphorylation (GO:0016311)|organophosphate catabolic process (GO:0046434)|phosphatidylcholine metabolic process (GO:0046470)|positive regulation of binding (GO:0051099)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of transporter activity (GO:0032411)|response to external stimulus (GO:0009605)|response to toxic substance (GO:0009636)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|high-density lipoprotein particle (GO:0034364)|intracellular membrane-bounded organelle (GO:0043231)|spherical high-density lipoprotein particle (GO:0034366)	aryldialkylphosphatase activity (GO:0004063)|arylesterase activity (GO:0004064)|calcium ion binding (GO:0005509)|phospholipid binding (GO:0005543)|protein homodimerization activity (GO:0042803)			autonomic_ganglia(1)|endometrium(2)|large_intestine(6)|lung(11)|pancreas(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	27	all_cancers(62;1.04e-10)|all_epithelial(64;3.67e-09)|Lung NSC(181;0.239)		STAD - Stomach adenocarcinoma(171;0.0031)		Cefazolin(DB01327)	CAACTTACTGGTAAGAAGACT	0.577																																					GBM(119;715 1622 17358 22490 33240)	ENST00000222381.3																			0				autonomic_ganglia(1)|endometrium(2)|large_intestine(6)|lung(11)|pancreas(3)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	27						c.(70-72)taC>taA		paraoxonase 1	Atorvastatin(DB01076)|Cefazolin(DB01327)						146.0	107.0	120.0					7																	94953716		2203	4300	6503	SO:0001587	stop_gained	5444				aromatic compound catabolic process|carboxylic acid catabolic process|organophosphate catabolic process|phosphatidylcholine metabolic process|positive regulation of binding|positive regulation of cholesterol efflux|positive regulation of transporter activity|response to external stimulus	spherical high-density lipoprotein particle	aryldialkylphosphatase activity|arylesterase activity|calcium ion binding|phospholipid binding|protein homodimerization activity	g.chr7:94953716G>T	AF539592	CCDS5638.1	7q21.3	2014-03-14			ENSG00000005421	ENSG00000005421	3.1.1.2	"""Paraoxonases"""	9204	protein-coding gene	gene with protein product	"""esterase A"", ""arylesterase 1"""	168820		PON		8661009, 15450851	Standard	NM_000446		Approved	ESA	uc003uns.3	P27169	OTTHUMG00000153894	ENST00000222381.3:c.72C>A	7.37:g.94953716G>T	ENSP00000222381:p.Tyr24*					PON1_ENST00000542556.1_Intron	p.Y24*	NM_000446.5	NP_000437.3	P27169	PON1_HUMAN	STAD - Stomach adenocarcinoma(171;0.0031)		1	303	-	all_cancers(62;1.04e-10)|all_epithelial(64;3.67e-09)|Lung NSC(181;0.239)		24					B2RA40|Q16052|Q6B0J6|Q9UCB1	Nonsense_Mutation	SNP	ENST00000222381.3	37	c.72C>A	CCDS5638.1	.	.	.	.	.	.	.	.	.	.	G	29.4	5.005232	0.93287	.	.	ENSG00000005421	ENST00000222381	.	.	.	4.34	-1.38	0.09027	.	0.611110	0.16972	N	0.192052	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.25751	T	0.34	-0.0447	3.7958	0.08738	0.464:0.0:0.3662:0.1698	.	.	.	.	X	24	.	ENSP00000222381:Y24X	Y	-	3	2	PON1	94791652	0.999000	0.42202	0.962000	0.40283	0.308000	0.27856	0.203000	0.17315	-0.265000	0.09352	0.650000	0.86243	TAC		0.577	PON1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000332865.2	NM_000446		26	51	1	0	2.12542e-12	1	2.38136e-12	26	51				
DPP4	1803	broad.mit.edu	37	2	162894822	162894822	+	Missense_Mutation	SNP	C	C	A			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr2:162894822C>A	ENST00000360534.3	-	8	1163	c.603G>T	c.(601-603)tgG>tgT	p.W201C		NM_001935.3	NP_001926.2	P27487	DPP4_HUMAN	dipeptidyl-peptidase 4	201					cell adhesion (GO:0007155)|endothelial cell migration (GO:0043542)|negative regulation of extracellular matrix disassembly (GO:0010716)|positive regulation of cell proliferation (GO:0008284)|regulation of cell-cell adhesion mediated by integrin (GO:0033632)|response to hypoxia (GO:0001666)|T cell activation (GO:0042110)|T cell costimulation (GO:0031295)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|endocytic vesicle (GO:0030139)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intercellular canaliculus (GO:0046581)|invadopodium membrane (GO:0071438)|lamellipodium (GO:0030027)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|plasma membrane (GO:0005886)	dipeptidyl-peptidase activity (GO:0008239)|identical protein binding (GO:0042802)|protease binding (GO:0002020)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	48					Alogliptin(DB06203)|Atorvastatin(DB01076)|Linagliptin(DB08882)|Liraglutide(DB06655)|Saxagliptin(DB06335)|Sitagliptin(DB01261)|Vildagliptin(DB04876)	CTTCATAAACCCAGTCAGTTA	0.279																																						ENST00000360534.3																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|liver(1)|lung(21)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	48						c.(601-603)tgG>tgT		dipeptidyl-peptidase 4	Sitagliptin(DB01261)						56.0	56.0	56.0					2																	162894822		2200	4279	6479	SO:0001583	missense	1803				cell adhesion|endothelial cell migration|negative regulation of extracellular matrix disassembly|positive regulation of cell proliferation|proteolysis|regulation of cell-cell adhesion mediated by integrin|response to hypoxia|T cell activation|T cell costimulation	apical plasma membrane|cell surface|endocytic vesicle|extracellular region|integral to membrane|invadopodium membrane|lamellipodium membrane|membrane raft	aminopeptidase activity|dipeptidyl-peptidase activity|protease binding|protein homodimerization activity|receptor activity|receptor binding|serine-type endopeptidase activity	g.chr2:162894822C>A	M74777	CCDS2216.1	2q24.2	2013-09-19	2008-08-01		ENSG00000197635	ENSG00000197635	3.4.14.5	"""CD molecules"""	3009	protein-coding gene	gene with protein product		102720	"""dipeptidylpeptidase IV (CD26, adenosine deaminase complexing protein 2)"", ""adenosine deaminase complexing protein 2"""	CD26, ADCP2		8101391	Standard	NM_001935		Approved	DPPIV	uc002ubz.3	P27487	OTTHUMG00000132056	ENST00000360534.3:c.603G>T	2.37:g.162894822C>A	ENSP00000353731:p.Trp201Cys						p.W201C	NM_001935.3	NP_001926.2	P27487	DPP4_HUMAN			8	1163	-			201					Q53TN1	Missense_Mutation	SNP	ENST00000360534.3	37	c.603G>T	CCDS2216.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.415021	0.83449	.	.	ENSG00000197635	ENST00000360534	T	0.55413	0.52	6.03	6.03	0.97812	Peptidase S9B, dipeptidylpeptidase IV N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.81978	0.4937	H	0.94964	3.605	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.85683	0.1302	10	0.87932	D	0	-19.4221	20.5753	0.99366	0.0:1.0:0.0:0.0	.	201	P27487	DPP4_HUMAN	C	201	ENSP00000353731:W201C	ENSP00000353731:W201C	W	-	3	0	DPP4	162603068	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.474000	0.73578	2.868000	0.98415	0.557000	0.71058	TGG		0.279	DPP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255079.2			9	52	1	0	1.33987e-11	1	1.478e-11	9	52				
RAD17	5884	broad.mit.edu	37	5	68692367	68692367	+	Missense_Mutation	SNP	T	T	A	rs200909538	byFrequency	TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr5:68692367T>A	ENST00000509734.1	+	15	2277	c.1599T>A	c.(1597-1599)aaT>aaA	p.N533K	RAD17_ENST00000504177.1_Intron|RAD17_ENST00000361732.2_Missense_Mutation_p.N522K|RAD17_ENST00000282891.6_Missense_Mutation_p.N436K|RAD17_ENST00000521422.1_Missense_Mutation_p.N357K|RAD17_ENST00000380774.3_Missense_Mutation_p.N533K|RAD17_ENST00000354868.5_Missense_Mutation_p.N522K|RAD17_ENST00000305138.4_Missense_Mutation_p.N522K|RAD17_ENST00000354312.3_Missense_Mutation_p.N522K|RAD17_ENST00000345306.6_Missense_Mutation_p.N522K|RAD17_ENST00000358030.2_Missense_Mutation_p.N357K			O75943	RAD17_HUMAN	RAD17 homolog (S. pombe)	533	Interaction with MCM7.				cellular response to DNA damage stimulus (GO:0006974)|DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication checkpoint (GO:0000076)|mitotic cell cycle checkpoint (GO:0007093)|negative regulation of DNA replication (GO:0008156)|regulation of phosphorylation (GO:0042325)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)						Lung NSC(167;5.19e-05)|Prostate(74;0.0143)|Ovarian(174;0.0448)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;9.36e-57)|Epithelial(20;1.21e-52)|all cancers(19;3.34e-48)|Lung(70;0.0183)		TTCTAATAAATAAAAAGGTAA	0.338								Other conserved DNA damage response genes																														ENST00000509734.1																			0											c.(1597-1599)aaT>aaA	Other conserved DNA damage response genes	RAD17 homolog (S. pombe)							19.0	19.0	19.0					5																	68692367		2203	4300	6503	SO:0001583	missense	5884				cell cycle|DNA damage checkpoint|DNA repair|DNA replication|DNA replication checkpoint|mitotic cell cycle checkpoint|negative regulation of DNA replication|regulation of phosphorylation	nucleoplasm	ATP binding|nucleoside-triphosphatase activity|protein binding	g.chr5:68692367T>A	AF085736	CCDS4003.1, CCDS4004.1, CCDS4005.1, CCDS47226.1	5q13	2010-09-24	2001-11-28		ENSG00000152942	ENSG00000152942			9807	protein-coding gene	gene with protein product		603139	"""RAD1 (S. pombe) homolog"""			9869296, 9660800	Standard	NM_133343		Approved	Rad24, RAD17Sp, CCYC	uc003jwo.3	O75943	OTTHUMG00000099357	ENST00000509734.1:c.1599T>A	5.37:g.68692367T>A	ENSP00000426191:p.Asn533Lys					RAD17_ENST00000354868.5_Missense_Mutation_p.N522K|RAD17_ENST00000380774.3_Missense_Mutation_p.N533K|RAD17_ENST00000504177.1_Intron|RAD17_ENST00000361732.2_Missense_Mutation_p.N522K|RAD17_ENST00000282891.6_Missense_Mutation_p.N436K|RAD17_ENST00000305138.4_Missense_Mutation_p.N522K|RAD17_ENST00000354312.3_Missense_Mutation_p.N522K|RAD17_ENST00000521422.1_Missense_Mutation_p.N357K|RAD17_ENST00000358030.2_Missense_Mutation_p.N357K|RAD17_ENST00000345306.6_Missense_Mutation_p.N522K	p.N533K			O75943	RAD17_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;9.36e-57)|Epithelial(20;1.21e-52)|all cancers(19;3.34e-48)|Lung(70;0.0183)	15	2277	+		Lung NSC(167;5.19e-05)|Prostate(74;0.0143)|Ovarian(174;0.0448)|Breast(144;0.198)	533			Interaction with MCM7.		A8K8X2|D3DWA5|O75714|Q7Z3S4|Q9UNK7|Q9UNR7|Q9UNR8|Q9UPF5	Missense_Mutation	SNP	ENST00000509734.1	37	c.1599T>A	CCDS4003.1	.	.	.	.	.	.	.	.	.	.	T	13.74	2.328380	0.41197	.	.	ENSG00000152942	ENST00000361732;ENST00000509734;ENST00000354868;ENST00000521422;ENST00000354312;ENST00000345306;ENST00000305138;ENST00000282891;ENST00000358030;ENST00000380774;ENST00000513214	T;T;T;T;T;T;T;T;T;T;T	0.23552	1.9;1.9;1.9;1.9;1.9;1.9;1.9;1.9;1.9;1.9;1.9	5.24	1.46	0.22682	.	0.188302	0.56097	D	0.000039	T	0.25121	0.0610	M	0.64404	1.975	0.37592	D	0.920216	P;P;B	0.43973	0.587;0.823;0.348	B;P;B	0.46320	0.287;0.512;0.191	T	0.19224	-1.0312	10	0.16420	T	0.52	0.2205	5.2212	0.15370	0.0:0.24:0.1489:0.6111	.	533;436;522	O75943;O75943-4;O75943-2	RAD17_HUMAN;.;.	K	522;533;522;357;522;522;522;436;357;533;141	ENSP00000355226:N522K;ENSP00000426191:N533K;ENSP00000346938:N522K;ENSP00000427743:N357K;ENSP00000346271:N522K;ENSP00000311227:N522K;ENSP00000303134:N522K;ENSP00000282891:N436K;ENSP00000350725:N357K;ENSP00000370151:N533K;ENSP00000425005:N141K	ENSP00000282891:N436K	N	+	3	2	RAD17	68728123	1.000000	0.71417	0.998000	0.56505	0.894000	0.52154	1.030000	0.30153	0.071000	0.16664	0.455000	0.32223	AAT		0.338	RAD17-008	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369171.1	NM_133344		8	34	0	0	0	1	0	8	34				
USH2A	7399	broad.mit.edu	37	1	216420335	216420335	+	Missense_Mutation	SNP	C	C	T			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr1:216420335C>T	ENST00000307340.3	-	13	2787	c.2401G>A	c.(2401-2403)Gga>Aga	p.G801R	USH2A_ENST00000366943.2_Missense_Mutation_p.G801R|USH2A_ENST00000366942.3_Missense_Mutation_p.G801R	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	801	Laminin EGF-like 6. {ECO:0000255|PROSITE- ProRule:PRU00460}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		GGGAGGGATCCAGCTGTGTCA	0.468										HNSCC(13;0.011)																												ENST00000366943.2																			0				NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527						c.(2401-2403)Gga>Aga		Usher syndrome 2A (autosomal recessive, mild)							124.0	117.0	119.0					1																	216420335		2203	4300	6503	SO:0001583	missense	7399				maintenance of organ identity|photoreceptor cell maintenance|response to stimulus|sensory perception of sound	basement membrane|cytoplasm|integral to membrane|stereocilium membrane	collagen binding	g.chr1:216420335C>T	AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"""Fibronectin type III domain containing"""	12601	protein-coding gene	gene with protein product	"""usherin"""	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.2401G>A	1.37:g.216420335C>T	ENSP00000305941:p.Gly801Arg	HNSCC(13;0.011)				USH2A_ENST00000366942.3_Missense_Mutation_p.G801R|USH2A_ENST00000307340.3_Missense_Mutation_p.G801R	p.G801R			O75445	USH2A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)	13	2787	-			801			Laminin EGF-like 6.		Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	ENST00000307340.3	37	c.2401G>A	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	C	15.15	2.747006	0.49257	.	.	ENSG00000042781	ENST00000307340;ENST00000366943;ENST00000366942	T;T;T	0.58940	0.3;0.3;0.3	5.91	5.91	0.95273	EGF-like, laminin (2);	0.000000	0.45126	D	0.000397	D	0.87517	0.6197	H	0.99273	4.495	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.92016	0.5622	10	0.72032	D	0.01	.	20.3057	0.98631	0.0:1.0:0.0:0.0	.	801;801	O75445-2;O75445	.;USH2A_HUMAN	R	801	ENSP00000305941:G801R;ENSP00000355910:G801R;ENSP00000355909:G801R	ENSP00000305941:G801R	G	-	1	0	USH2A	214486958	0.999000	0.42202	0.080000	0.20451	0.037000	0.13140	5.573000	0.67417	2.791000	0.96007	0.655000	0.94253	GGA		0.468	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1	NM_007123		78	144	0	0	0	1	0	78	144				
APOB	338	broad.mit.edu	37	2	21231538	21231538	+	Silent	SNP	A	A	G			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr2:21231538A>G	ENST00000233242.1	-	26	8329	c.8202T>C	c.(8200-8202)ccT>ccC	p.P2734P		NM_000384.2	NP_000375	P04114	APOB_HUMAN	apolipoprotein B	2734				Missing (in Ref. 15; AAA51758). {ECO:0000305}.	artery morphogenesis (GO:0048844)|blood coagulation (GO:0007596)|cellular response to prostaglandin stimulus (GO:0071379)|cellular response to tumor necrosis factor (GO:0071356)|cholesterol efflux (GO:0033344)|cholesterol homeostasis (GO:0042632)|cholesterol metabolic process (GO:0008203)|cholesterol transport (GO:0030301)|fertilization (GO:0009566)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|lipoprotein biosynthetic process (GO:0042158)|lipoprotein catabolic process (GO:0042159)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|low-density lipoprotein particle clearance (GO:0034383)|low-density lipoprotein particle remodeling (GO:0034374)|nervous system development (GO:0007399)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of lipid storage (GO:0010884)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|post-embryonic development (GO:0009791)|receptor-mediated endocytosis (GO:0006898)|regulation of cholesterol biosynthetic process (GO:0045540)|response to carbohydrate (GO:0009743)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to virus (GO:0009615)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|triglyceride catabolic process (GO:0019433)|triglyceride mobilization (GO:0006642)|very-low-density lipoprotein particle assembly (GO:0034379)	actin cytoskeleton (GO:0015629)|chylomicron (GO:0042627)|chylomicron remnant (GO:0034360)|clathrin-coated endocytic vesicle membrane (GO:0030669)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endocytic vesicle lumen (GO:0071682)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endosome lumen (GO:0031904)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|intermediate-density lipoprotein particle (GO:0034363)|intracellular membrane-bounded organelle (GO:0043231)|low-density lipoprotein particle (GO:0034362)|mature chylomicron (GO:0034359)|plasma membrane (GO:0005886)|very-low-density lipoprotein particle (GO:0034361)	cholesterol transporter activity (GO:0017127)|heparin binding (GO:0008201)|lipase binding (GO:0035473)|low-density lipoprotein particle receptor binding (GO:0050750)|phospholipid binding (GO:0005543)			NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGTGAAGGTCAGGAACTTGAA	0.418																																						ENST00000233242.1																			0				NS(5)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(19)|kidney(10)|large_intestine(63)|liver(5)|lung(125)|ovary(16)|pancreas(1)|prostate(5)|skin(31)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(6)	305						c.(8200-8202)ccT>ccC		apolipoprotein B	Atorvastatin(DB01076)						187.0	189.0	188.0					2																	21231538		2203	4300	6503	SO:0001819	synonymous_variant	338				cholesterol homeostasis|cholesterol metabolic process|leukocyte migration|low-density lipoprotein particle clearance|low-density lipoprotein particle remodeling|platelet activation|positive regulation of cholesterol storage|positive regulation of macrophage derived foam cell differentiation|receptor-mediated endocytosis|response to virus	chylomicron remnant|clathrin-coated endocytic vesicle membrane|endoplasmic reticulum lumen|endoplasmic reticulum membrane|endosome lumen|endosome membrane|intermediate-density lipoprotein particle|low-density lipoprotein particle|mature chylomicron|microsome|plasma membrane|very-low-density lipoprotein particle	cholesterol transporter activity|enzyme binding|heparin binding|low-density lipoprotein particle receptor binding|phospholipid binding|protein heterodimerization activity	g.chr2:21231538A>G	M14162	CCDS1703.1	2p24-p23	2013-05-29	2013-05-29		ENSG00000084674	ENSG00000084674		"""Apolipoproteins"""	603	protein-coding gene	gene with protein product		107730	"""apolipoprotein B (including Ag(x) antigen)"""				Standard	NM_000384		Approved		uc002red.3	P04114	OTTHUMG00000090785	ENST00000233242.1:c.8202T>C	2.37:g.21231538A>G							p.P2734P	NM_000384.2	NP_000375.2	P04114	APOB_HUMAN			26	8329	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		2734	Missing (in Ref. 15; AAA51758).				O00502|P78479|P78480|P78481|Q13779|Q13785|Q13786|Q13787|Q13788|Q4ZG63|Q53QC8|Q7Z600|Q9UMN0	Silent	SNP	ENST00000233242.1	37	c.8202T>C	CCDS1703.1																																																																																				0.418	APOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207571.1			15	481	0	0	0	1	0	15	481				
OR51V1	283111	broad.mit.edu	37	11	5221625	5221625	+	Missense_Mutation	SNP	G	G	C			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr11:5221625G>C	ENST00000321255.1	-	1	305	c.306C>G	c.(304-306)agC>agG	p.S102R		NM_001004760.2	NP_001004760.2	Q9H2C8	O51V1_HUMAN	olfactory receptor, family 51, subfamily V, member 1	102					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(1)|kidney(2)|large_intestine(13)|lung(19)|skin(2)|upper_aerodigestive_tract(2)	39		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.83e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		AGGAATCCAAGCTGATCTCTC	0.522																																						ENST00000321255.1																			0				endometrium(1)|kidney(2)|large_intestine(13)|lung(19)|skin(2)|upper_aerodigestive_tract(2)	39						c.(304-306)agC>agG		olfactory receptor, family 51, subfamily V, member 1							66.0	61.0	63.0					11																	5221625		2201	4298	6499	SO:0001583	missense	283111				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5221625G>C	BK004432	CCDS31375.1	11p15.4	2012-08-09			ENSG00000176742	ENSG00000176742		"""GPCR / Class A : Olfactory receptors"""	19597	protein-coding gene	gene with protein product				OR51A12			Standard	NM_001004760		Approved		uc010qyz.2	Q9H2C8	OTTHUMG00000066671	ENST00000321255.1:c.306C>G	11.37:g.5221625G>C	ENSP00000321729:p.Ser102Arg						p.S102R	NM_001004760.2	NP_001004760.2	Q9H2C8	O51V1_HUMAN		Epithelial(150;2.83e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	305	-		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)	102						Missense_Mutation	SNP	ENST00000321255.1	37	c.306C>G	CCDS31375.1	.	.	.	.	.	.	.	.	.	.	G	11.55	1.670688	0.29693	.	.	ENSG00000176742	ENST00000321255	T	0.01359	4.98	5.48	2.42	0.29668	GPCR, rhodopsin-like superfamily (1);	0.258207	0.27618	N	0.018570	T	0.08980	0.0222	H	0.94264	3.515	0.09310	N	1	D	0.53151	0.958	P	0.60473	0.875	T	0.03761	-1.1006	10	0.56958	D	0.05	.	8.1333	0.31039	0.3418:0.0:0.6582:0.0	.	102	Q9H2C8	O51V1_HUMAN	R	102	ENSP00000321729:S102R	ENSP00000321729:S102R	S	-	3	2	OR51V1	5178201	0.000000	0.05858	0.087000	0.20705	0.381000	0.30169	-0.216000	0.09266	0.869000	0.35703	0.650000	0.86243	AGC		0.522	OR51V1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142965.1	NM_001004760		42	40	0	0	0	1	0	42	40				
DES	1674	broad.mit.edu	37	2	220290457	220290457	+	Missense_Mutation	SNP	G	G	A	rs541585670		TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr2:220290457G>A	ENST00000373960.3	+	8	1447	c.1361G>A	c.(1360-1362)cGg>cAg	p.R454Q	AC053503.6_ENST00000431827.1_RNA	NM_001927.3	NP_001918.3	P17661	DESM_HUMAN	desmin	454	Tail.		R -> W (in MFM1; reveals a severe disturbance of filament-formation competence and filament-filament interactions, indicating an inherent incompaibility of mutant and wild-type protein to form mixed filaments). {ECO:0000269|PubMed:17221859, ECO:0000269|PubMed:22106715}.		cytoskeleton organization (GO:0007010)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|regulation of heart contraction (GO:0008016)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|intermediate filament (GO:0005882)|neuromuscular junction (GO:0031594)|sarcolemma (GO:0042383)|Z disc (GO:0030018)	cytoskeletal protein binding (GO:0008092)|identical protein binding (GO:0042802)|structural constituent of cytoskeleton (GO:0005200)			breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(10)|skin(1)	18		Renal(207;0.0183)		Epithelial(149;5.25e-07)|all cancers(144;0.000103)|Lung(261;0.00533)|LUSC - Lung squamous cell carcinoma(224;0.008)		ATCGAGACACGGGATGGGGAG	0.567																																						ENST00000373960.3																			0				breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(10)|skin(1)	18						c.(1360-1362)cGg>cAg		desmin							61.0	47.0	51.0					2																	220290457		2203	4300	6503	SO:0001583	missense	1674				cytoskeleton organization|muscle filament sliding|regulation of heart contraction	cytosol|Z disc	protein binding|structural constituent of cytoskeleton	g.chr2:220290457G>A	AF521879	CCDS33383.1	2q35	2014-09-17			ENSG00000175084	ENSG00000175084		"""Intermediate filaments type III"""	2770	protein-coding gene	gene with protein product	"""intermediate filament protein"""	125660				2673923, 9736733	Standard	NM_001927		Approved	CMD1I, CSM1, CSM2	uc002vll.3	P17661	OTTHUMG00000058924	ENST00000373960.3:c.1361G>A	2.37:g.220290457G>A	ENSP00000363071:p.Arg454Gln					AC053503.6_ENST00000431827.1_RNA	p.R454Q	NM_001927.3	NP_001918.3	P17661	DESM_HUMAN		Epithelial(149;5.25e-07)|all cancers(144;0.000103)|Lung(261;0.00533)|LUSC - Lung squamous cell carcinoma(224;0.008)	8	1447	+		Renal(207;0.0183)	454		R -> W (in MFM1; reveals a severe disturbance of filament-formation competence and filament-filament interactions, indicating an inherent incompaibility of mutant and wild-type protein to form mixed filaments).	Tail.		Q15787|Q549R7|Q549R8|Q549R9|Q8IZR1|Q8IZR6|Q8NES2|Q8NEU6|Q8TAC4|Q8TCX2|Q8TD99|Q9UHN5|Q9UJ80	Missense_Mutation	SNP	ENST00000373960.3	37	c.1361G>A	CCDS33383.1	.	.	.	.	.	.	.	.	.	.	G	21.4	4.145330	0.77888	.	.	ENSG00000175084	ENST00000373960	D	0.99701	-6.45	4.46	4.46	0.54185	.	0.000000	0.36482	N	0.002568	D	0.99266	0.9744	M	0.80508	2.5	0.45747	D	0.998648	P	0.52463	0.953	B	0.43658	0.426	D	0.99568	1.0970	10	0.62326	D	0.03	.	16.9347	0.86200	0.0:0.0:1.0:0.0	.	454	P17661	DESM_HUMAN	Q	454	ENSP00000363071:R454Q	ENSP00000363071:R454Q	R	+	2	0	DES	219998701	1.000000	0.71417	1.000000	0.80357	0.936000	0.57629	7.480000	0.81109	2.324000	0.78689	0.655000	0.94253	CGG		0.567	DES-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130240.1	NM_001927		12	17	0	0	0	1	0	12	17				
LRRK2	120892	broad.mit.edu	37	12	40692983	40692983	+	Silent	SNP	C	C	T			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr12:40692983C>T	ENST00000298910.7	+	25	3478	c.3420C>T	c.(3418-3420)caC>caT	p.H1140H	LRRK2_ENST00000343742.2_Silent_p.H1140H	NM_198578.3	NP_940980	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	1140					activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|autophagy (GO:0006914)|cellular protein localization (GO:0034613)|cellular response to dopamine (GO:1903351)|cellular response to manganese ion (GO:0071287)|cellular response to oxidative stress (GO:0034599)|determination of adult lifespan (GO:0008340)|endocytosis (GO:0006897)|exploration behavior (GO:0035640)|GTP catabolic process (GO:0006184)|intracellular distribution of mitochondria (GO:0048312)|intracellular signal transduction (GO:0035556)|locomotory exploration behavior (GO:0035641)|MAPK cascade (GO:0000165)|negative regulation of GTPase activity (GO:0034260)|negative regulation of hydrogen peroxide-induced cell death (GO:1903206)|negative regulation of late endosome to lysosome transport (GO:1902823)|negative regulation of peroxidase activity (GO:2000469)|negative regulation of protein binding (GO:0032091)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein processing (GO:0010955)|negative regulation of protein processing involved in protein targeting to mitochondrion (GO:1903217)|negative regulation of protein targeting to mitochondrion (GO:1903215)|negative regulation of thioredoxin peroxidase activity by peptidyl-threonine phosphorylation (GO:1903125)|neuromuscular junction development (GO:0007528)|neuron death (GO:0070997)|neuron projection morphogenesis (GO:0048812)|olfactory bulb development (GO:0021772)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of autophagy (GO:0010508)|positive regulation of dopamine receptor signaling pathway (GO:0060161)|positive regulation of GTPase activity (GO:0043547)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of programmed cell death (GO:0043068)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein autoubiquitination (GO:1902499)|positive regulation of protein binding (GO:0032092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination (GO:0031398)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reactive oxygen species metabolic process (GO:0072593)|regulation of branching morphogenesis of a nerve (GO:2000172)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of dopamine receptor signaling pathway (GO:0060159)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of kidney size (GO:0035564)|regulation of locomotion (GO:0040012)|regulation of membrane potential (GO:0042391)|regulation of mitochondrial depolarization (GO:0051900)|regulation of neuroblast proliferation (GO:1902692)|regulation of neuron death (GO:1901214)|regulation of neuron maturation (GO:0014041)|regulation of protein kinase A signaling (GO:0010738)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of synaptic vesicle exocytosis (GO:2000300)|regulation of synaptic vesicle transport (GO:1902803)|response to oxidative stress (GO:0006979)|small GTPase mediated signal transduction (GO:0007264)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytoplasmic side of mitochondrial outer membrane (GO:0032473)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendrite (GO:0030425)|dendrite cytoplasm (GO:0032839)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|inclusion body (GO:0016234)|lysosome (GO:0005764)|membrane raft (GO:0045121)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)|terminal bouton (GO:0043195)|trans-Golgi network (GO:0005802)	actin binding (GO:0003779)|ATP binding (GO:0005524)|clathrin binding (GO:0030276)|glycoprotein binding (GO:0001948)|GTP binding (GO:0005525)|GTP-dependent protein kinase activity (GO:0034211)|GTPase activator activity (GO:0005096)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)|ion channel binding (GO:0044325)|kinase activity (GO:0016301)|MAP kinase kinase activity (GO:0004708)|peroxidase inhibitor activity (GO:0036479)|protein homodimerization activity (GO:0042803)|protein kinase A binding (GO:0051018)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|Rho GTPase binding (GO:0017048)|SNARE binding (GO:0000149)|syntaxin-1 binding (GO:0017075)|tubulin binding (GO:0015631)			NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				GTAAGAACCACATTTCATCCC	0.388																																						ENST00000298910.7																			0				NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181						c.(3418-3420)caC>caT		leucine-rich repeat kinase 2							172.0	185.0	180.0					12																	40692983		2203	4300	6503	SO:0001819	synonymous_variant	120892				activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding	g.chr12:40692983C>T	AK026776	CCDS31774.1	12q12	2011-07-21			ENSG00000188906	ENSG00000188906		"""Parkinson disease"""	18618	protein-coding gene	gene with protein product		609007	"""Parkinson disease (autosomal dominant) 8"""	PARK8		15541308	Standard	NM_198578		Approved	ROCO2, DKFZp434H2111, FLJ45829, RIPK7	uc001rmg.4	Q5S007	OTTHUMG00000059742	ENST00000298910.7:c.3420C>T	12.37:g.40692983C>T						LRRK2_ENST00000343742.2_Silent_p.H1140H	p.H1140H	NM_198578.3	NP_940980.3	Q5S007	LRRK2_HUMAN			25	3478	+	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)	1140					A6NJU2|Q6ZS50|Q8NCX9	Silent	SNP	ENST00000298910.7	37	c.3420C>T	CCDS31774.1																																																																																				0.388	LRRK2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277179.1	XM_058513		52	236	0	0	0	1	0	52	236				
ATP10A	57194	broad.mit.edu	37	15	25958826	25958826	+	Missense_Mutation	SNP	G	G	A			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr15:25958826G>A	ENST00000356865.6	-	10	2450	c.2339C>T	c.(2338-2340)tCt>tTt	p.S780F		NM_024490.3	NP_077816.1	O60312	AT10A_HUMAN	ATPase, class V, type 10A	780					ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|regulation of cell shape (GO:0008360)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)		AGTACCTGAAGAGCAGGGCTG	0.567																																						ENST00000356865.6																			0				NS(1)|breast(2)|endometrium(8)|kidney(2)|large_intestine(33)|liver(1)|lung(41)|ovary(3)|pancreas(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	103						c.(2338-2340)tCt>tTt		ATPase, class V, type 10A							44.0	42.0	43.0					15																	25958826		2203	4300	6503	SO:0001583	missense	57194				ATP biosynthetic process|regulation of cell shape	integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr15:25958826G>A	AB011138	CCDS32178.1	15q12	2010-04-20	2007-09-19		ENSG00000206190	ENSG00000206190		"""ATPases / P-type"""	13542	protein-coding gene	gene with protein product		605855	"""ATPase, Class V, type 10C"", ""ATPase, Class V, type 10A"""	ATP10C		11015572, 9628581	Standard	NM_024490		Approved	ATPVA, ATPVC, KIAA0566	uc010ayu.3	O60312		ENST00000356865.6:c.2339C>T	15.37:g.25958826G>A	ENSP00000349325:p.Ser780Phe						p.S780F	NM_024490.3	NP_077816.1	O60312	AT10A_HUMAN		all cancers(64;9.48e-07)|Epithelial(43;1.69e-06)|BRCA - Breast invasive adenocarcinoma(123;0.0252)|Lung(196;0.244)	10	2450	-		all_cancers(20;5.16e-25)|all_lung(180;1.51e-14)|Acute lymphoblastic leukemia(1;2.53e-05)|all_hematologic(1;0.000267)|Breast(32;0.00125)	780					Q4G0S9|Q969I4	Missense_Mutation	SNP	ENST00000356865.6	37	c.2339C>T	CCDS32178.1	.	.	.	.	.	.	.	.	.	.	G	14.10	2.433221	0.43224	.	.	ENSG00000206190	ENST00000356865	D	0.84370	-1.84	4.5	3.57	0.40892	ATPase, cation-transporting, domain N (1);HAD-like domain (1);ATPase, P-type, cytoplasmic domain N (1);	0.500271	0.24165	N	0.040954	D	0.84133	0.5405	M	0.72118	2.19	0.40078	D	0.976102	B	0.27140	0.169	B	0.31191	0.125	T	0.81169	-0.1055	10	0.32370	T	0.25	-14.3979	14.0369	0.64651	0.0:0.0:0.8476:0.1524	.	780	O60312	AT10A_HUMAN	F	780	ENSP00000349325:S780F	ENSP00000349325:S780F	S	-	2	0	ATP10A	23509919	1.000000	0.71417	0.991000	0.47740	0.454000	0.32378	3.934000	0.56553	1.008000	0.39264	-0.314000	0.08810	TCT		0.567	ATP10A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414830.1	NM_024490		25	29	0	0	0	1	0	25	29				
LRP1B	53353	broad.mit.edu	37	2	141457818	141457818	+	Splice_Site	SNP	C	C	A			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr2:141457818C>A	ENST00000389484.3	-	41	7771		c.e41+1			NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B						protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		ACTGTACTTACTTTCAACAAT	0.313										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	ENST00000389484.3																			0				NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606						c.e41+1		low density lipoprotein receptor-related protein 1B							70.0	73.0	72.0					2																	141457818		2203	4297	6500	SO:0001630	splice_region_variant	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141457818C>A	AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.6799+1G>T	2.37:g.141457818C>A		TSP Lung(27;0.18)						NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)	41	7771	-		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)						Q8WY29|Q8WY30|Q8WY31	Splice_Site	SNP	ENST00000389484.3	37		CCDS2182.1	.	.	.	.	.	.	.	.	.	.	C	20.6	4.012237	0.75046	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	.	.	.	3.95	3.95	0.45737	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.5232	0.84322	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	LRP1B	141174288	1.000000	0.71417	1.000000	0.80357	0.920000	0.55202	7.710000	0.84655	2.176000	0.68965	0.585000	0.79938	.		0.313	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557	Intron	37	54	1	0	6.53348e-20	1	8.12886e-20	37	54				
DCST1	149095	broad.mit.edu	37	1	155023225	155023225	+	Missense_Mutation	SNP	G	G	A	rs373648945		TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr1:155023225G>A	ENST00000295542.1	+	17	2098	c.2002G>A	c.(2002-2004)Gtg>Atg	p.V668M	ADAM15_ENST00000355956.2_5'Flank|ADAM15_ENST00000271836.6_5'Flank|ADAM15_ENST00000447332.3_5'Flank|ADAM15_ENST00000368410.2_5'Flank|ADAM15_ENST00000356955.2_5'Flank|ADAM15_ENST00000368413.1_5'Flank|ADAM15_ENST00000359280.4_5'Flank|ADAM15_ENST00000368412.3_5'Flank|ADAM15_ENST00000360674.4_5'Flank|ADAM15_ENST00000531455.1_5'Flank|DCST1_ENST00000423025.2_Missense_Mutation_p.V643M|ADAM15_ENST00000449910.2_5'Flank	NM_152494.3	NP_689707.2	Q5T197	DCST1_HUMAN	DC-STAMP domain containing 1	668						integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)			breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	27	all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		BRCA - Breast invasive adenocarcinoma(34;0.000434)			CTGCGAGGCCGTGTACTGCTG	0.697											OREG0013846	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000295542.1																			0				breast(2)|endometrium(4)|kidney(2)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	27						c.(2002-2004)Gtg>Atg		DC-STAMP domain containing 1		G	MET/VAL,MET/VAL	1,4399	2.1+/-5.4	0,1,2199	26.0	27.0	27.0		1927,2002	4.3	0.9	1		27	0,8598		0,0,4299	no	missense,missense	DCST1	NM_001143687.2,NM_152494.3	21,21	0,1,6498	AA,AG,GG		0.0,0.0227,0.0077	benign,benign	643/682,668/707	155023225	1,12997	2200	4299	6499	SO:0001583	missense	149095					integral to membrane	zinc ion binding	g.chr1:155023225G>A	AK057347	CCDS1083.1, CCDS44235.1	1q22	2008-02-05			ENSG00000163357	ENSG00000163357			26539	protein-coding gene	gene with protein product							Standard	NM_152494		Approved	FLJ32785	uc001fgn.2	Q5T197	OTTHUMG00000041314	ENST00000295542.1:c.2002G>A	1.37:g.155023225G>A	ENSP00000295542:p.Val668Met		OREG0013846	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1767	DCST1_ENST00000423025.2_Missense_Mutation_p.V643M	p.V668M	NM_152494.3	NP_689707.2	Q5T197	DCST1_HUMAN	BRCA - Breast invasive adenocarcinoma(34;0.000434)		17	2098	+	all_epithelial(22;1.43e-30)|all_lung(78;6.64e-28)|all_hematologic(923;0.0359)|Hepatocellular(266;0.0877)		668					B4DXA0|E9PHV3|Q5T198|Q6P1W6|Q71S70|Q96M70	Missense_Mutation	SNP	ENST00000295542.1	37	c.2002G>A	CCDS1083.1	.	.	.	.	.	.	.	.	.	.	G	16.30	3.083080	0.55861	2.27E-4	0.0	ENSG00000163357	ENST00000295542;ENST00000423025	T;T	0.26660	1.72;1.73	5.22	4.29	0.51040	Zinc finger, RING-type (2);	0.208582	0.33419	N	0.004927	T	0.10551	0.0258	L	0.55990	1.75	0.80722	D	1	P;P	0.43633	0.813;0.813	B;B	0.27796	0.083;0.083	T	0.04752	-1.0929	10	0.59425	D	0.04	-17.9303	13.2116	0.59828	0.0:0.1678:0.8322:0.0	.	643;668	E9PHV3;Q5T197	.;DCST1_HUMAN	M	668;643	ENSP00000295542:V668M;ENSP00000387369:V643M	ENSP00000295542:V668M	V	+	1	0	DCST1	153289849	0.053000	0.20554	0.935000	0.37517	0.619000	0.37552	0.507000	0.22675	1.156000	0.42514	0.655000	0.94253	GTG		0.697	DCST1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000099006.1	NM_152494		3	47	0	0	0	1	0	3	47				
PTGIS	5740	broad.mit.edu	37	20	48127716	48127716	+	Splice_Site	SNP	C	C	T			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr20:48127716C>T	ENST00000244043.4	-	9	1236	c.1207G>A	c.(1207-1209)Gta>Ata	p.V403I	PTGIS_ENST00000478971.1_5'UTR	NM_000961.3	NP_000952.1	Q16647	PTGIS_HUMAN	prostaglandin I2 (prostacyclin) synthase	403					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)	TATTTAAATACCTGAAATAGG	0.433																																						ENST00000244043.4																			0				endometrium(1)|kidney(1)|large_intestine(7)|lung(6)|ovary(3)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	27						c.e9-1		prostaglandin I2 (prostacyclin) synthase	Phenylbutazone(DB00812)						52.0	48.0	49.0					20																	48127716		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.chr20:48127716C>T		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.1207-1G>A	20.37:g.48127716C>T						PTGIS_ENST00000478971.1_5'UTR	p.V403_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)		9	1236	-			403					Q3MII8|Q9HAX2|Q9HAX3|Q9HAX4	Splice_Site	SNP	ENST00000244043.4	37	c.1206_splice	CCDS13419.1	.	.	.	.	.	.	.	.	.	.	C	9.621	1.133747	0.21123	.	.	ENSG00000124212	ENST00000244043	T	0.01323	5.01	5.26	3.27	0.37495	.	0.699653	0.13835	N	0.359470	T	0.01695	0.0054	L	0.41573	1.285	0.42148	D	0.991546	B	0.12630	0.006	B	0.11329	0.006	T	0.52924	-0.8510	10	0.38643	T	0.18	-8.5595	7.8771	0.29599	0.0:0.7079:0.0:0.2921	.	403	Q16647	PTGIS_HUMAN	I	403	ENSP00000244043:V403I	ENSP00000244043:V403I	V	-	1	0	PTGIS	47561123	0.333000	0.24731	0.555000	0.28281	0.711000	0.40976	0.725000	0.25970	0.537000	0.28751	0.561000	0.74099	GTA		0.433	PTGIS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080496.2		Missense_Mutation	32	59	0	0	0	1	0	32	59				
DDX11L1	100287102	broad.mit.edu	37	1	13417	13418	+	RNA	INS	-	-	GAGA			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr1:13417_13418insGAGA	ENST00000456328.2	+	0	665_666					NR_046018.2|NR_051986.1				DEAD/H (Asp-Glu-Ala-Asp/His) box helicase 11 like 1																		TCCACCACCCCGAGATCACATT	0.559																																						ENST00000456328.2																			0																																																			100287102							g.chr1:13417_13418insGAGA	AM992871		1p36.33	2012-02-23	2012-02-23		ENSG00000223972	ENSG00000223972			37102	pseudogene	pseudogene			"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 11 like 1"""			19476624	Standard	NR_046018		Approved		uc010nxq.1		OTTHUMG00000000961		1.37:g.13418_13421dupGAGA								NR_046018.2|NR_051986.1						0	665_666	+									RNA	INS	ENST00000456328.2	37																																																																																						0.559	DDX11L1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000362751.1			7	72						7	72	---	---	---	---
AHDC1	27245	broad.mit.edu	37	1	27878425	27878425	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr1:27878425delC	ENST00000247087.5	-	5	798	c.202delG	c.(202-204)gacfs	p.D68fs	AHDC1_ENST00000374011.2_Frame_Shift_Del_p.D68fs			Q5TGY3	AHDC1_HUMAN	AT hook, DNA binding motif, containing 1	68	Pro-rich.						DNA binding (GO:0003677)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42		all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0434)|OV - Ovarian serous cystadenocarcinoma(117;8.48e-25)|Colorectal(126;9.17e-09)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00192)|BRCA - Breast invasive adenocarcinoma(304;0.00259)|STAD - Stomach adenocarcinoma(196;0.00311)|READ - Rectum adenocarcinoma(331;0.0291)		GTGCTGGGGTCCCGGCGTGGG	0.751																																						ENST00000374011.2																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42						c.(202-204)acfs		AT hook, DNA binding motif, containing 1							11.0	15.0	14.0					1																	27878425		2087	4098	6185	SO:0001589	frameshift_variant	27245						DNA binding	g.chr1:27878425delC	AK125431	CCDS30652.1	1p36.13	2008-02-05			ENSG00000126705	ENSG00000126705			25230	protein-coding gene	gene with protein product		615790				8619474, 9110174	Standard	XM_005245848		Approved	DJ159A19.3, RP1-159A19.1	uc009vsy.3	Q5TGY3	OTTHUMG00000003398	ENST00000247087.5:c.202delG	1.37:g.27878425delC	ENSP00000247087:p.Asp68fs					AHDC1_ENST00000482400.2_Intron|AHDC1_ENST00000247087.5_Frame_Shift_Del_p.D68fs	p.D68fs	NM_001029882.2	NP_001025053.1	Q5TGY3	AHDC1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0434)|OV - Ovarian serous cystadenocarcinoma(117;8.48e-25)|Colorectal(126;9.17e-09)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00192)|BRCA - Breast invasive adenocarcinoma(304;0.00259)|STAD - Stomach adenocarcinoma(196;0.00311)|READ - Rectum adenocarcinoma(331;0.0291)	6	1170	-		all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)	68			Pro-rich.		Q5TGY4|Q6PJK1|Q6ZUQ6|Q99769|Q9NUF5	Frame_Shift_Del	DEL	ENST00000247087.5	37	c.202delG	CCDS30652.1																																																																																				0.751	AHDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009523.3			24	111						24	111	---	---	---	---
TSPAN2	10100	broad.mit.edu	37	1	115601537	115601537	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr1:115601537delT	ENST00000369516.2	-	5	442	c.411delA	c.(409-411)aaafs	p.K137fs	TSPAN2_ENST00000369515.2_Frame_Shift_Del_p.K112fs|TSPAN2_ENST00000369514.2_Frame_Shift_Del_p.K137fs|TSPAN2_ENST00000491992.1_5'Flank	NM_005725.4	NP_005716.2	O60636	TSN2_HUMAN	tetraspanin 2	137					astrocyte development (GO:0014002)|axon development (GO:0061564)|brain development (GO:0007420)|inflammatory response (GO:0006954)|microglia development (GO:0014005)|myelination (GO:0042552)|oligodendrocyte differentiation (GO:0048709)	integral component of membrane (GO:0016021)|myelin sheath (GO:0043209)|plasma membrane (GO:0005886)				central_nervous_system(1)|large_intestine(4)|lung(3)|pancreas(1)|prostate(1)	10	Lung SC(450;0.211)	all_cancers(81;2.9e-07)|all_epithelial(167;1.42e-06)|all_lung(203;6.72e-06)|Lung NSC(69;1.13e-05)|Acute lymphoblastic leukemia(138;0.191)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|all cancers(265;0.159)|Epithelial(280;0.179)		TCCCATTGCCTTTTCCCCTGT	0.418																																						ENST00000369516.2																			0				central_nervous_system(1)|large_intestine(4)|lung(3)|pancreas(1)|prostate(1)	10						c.(409-411)aafs		tetraspanin 2							276.0	251.0	259.0					1																	115601537		2203	4300	6503	SO:0001589	frameshift_variant	10100					integral to membrane		g.chr1:115601537delT	AF054839	CCDS881.1	1p13.1	2013-02-14			ENSG00000134198	ENSG00000134198		"""Tetraspanins"""	20659	protein-coding gene	gene with protein product		613133				9714763, 11739647	Standard	NM_005725		Approved	TSPAN-2, TSN2, FLJ12082	uc001eft.3	O60636	OTTHUMG00000011878	ENST00000369516.2:c.411delA	1.37:g.115601537delT	ENSP00000358529:p.Lys137fs					TSPAN2_ENST00000369515.2_Frame_Shift_Del_p.K112fs|TSPAN2_ENST00000369514.2_Frame_Shift_Del_p.K137fs	p.K137fs	NM_005725.4	NP_005716.2	O60636	TSN2_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)|all cancers(265;0.159)|Epithelial(280;0.179)	5	442	-	Lung SC(450;0.211)	all_cancers(81;2.9e-07)|all_epithelial(167;1.42e-06)|all_lung(203;6.72e-06)|Lung NSC(69;1.13e-05)|Acute lymphoblastic leukemia(138;0.191)	137					D6PTH4|Q5TET2|Q8WU05	Frame_Shift_Del	DEL	ENST00000369516.2	37	c.411delA	CCDS881.1																																																																																				0.418	TSPAN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032828.1	NM_005725		7	293						7	293	---	---	---	---
RP11-782C8.2	0	broad.mit.edu	37	1	143213045	143213046	+	lincRNA	INS	-	-	AA			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr1:143213045_143213046insAA	ENST00000412204.2	-	0	0				RP11-782C8.1_ENST00000438000.1_lincRNA																							cagaaaaaaacaaacaaacaaa	0.406																																						ENST00000438000.1																			0																																																			0							g.chr1:143213045_143213046insAA																													1.37:g.143213046_143213047dupAA														0	59	+									RNA	INS	ENST00000412204.2	37																																																																																						0.406	RP11-782C8.2-004	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000037567.2			27	72						27	72	---	---	---	---
ZNF804A	91752	broad.mit.edu	37	2	185803442	185803462	+	In_Frame_Del	DEL	GCTGCAGCTGCTGCAGCTGCA	GCTGCAGCTGCTGCAGCTGCA	-	rs112183442|rs376180864|rs193000214|rs143955610|rs367970300	byFrequency	TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr2:185803442_185803462delGCTGCAGCTGCTGCAGCTGCA	ENST00000302277.6	+	4	3913_3933	c.3319_3339delGCTGCAGCTGCTGCAGCTGCA	c.(3319-3339)gctgcagctgctgcagctgcadel	p.AAAAAAA1107del		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	1107							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						gcagcagcacgctgcagctgctgcagctgcagctgcagccg	0.538																																						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.(3319-3339)del		zinc finger protein 804A																																				SO:0001651	inframe_deletion	91752					intracellular	zinc ion binding	g.chr2:185803442_185803462delGCTGCAGCTGCTGCAGCTGCA	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.3319_3339delGCTGCAGCTGCTGCAGCTGCA	2.37:g.185803442_185803462delGCTGCAGCTGCTGCAGCTGCA	ENSP00000303252:p.Ala1107_Ala1113del						p.AAAAAAA1107del	NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN			4	3913_3933	+			1107					A7E253|Q6ZN26	In_Frame_Del	DEL	ENST00000302277.6	37	c.3319_3339delGCTGCAGCTGCTGCAGCTGCA	CCDS2291.1																																																																																				0.538	ZNF804A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255871.1	NM_194250		23	227						23	227	---	---	---	---
RAD54L2	23132	broad.mit.edu	37	3	51669721	51669721	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr3:51669721delG	ENST00000409535.2	+	9	1380	c.1255delG	c.(1255-1257)ggtfs	p.G419fs	RAD54L2_ENST00000296477.3_Frame_Shift_Del_p.G113fs	NM_015106.2	NP_055921.2	Q9Y4B4	ARIP4_HUMAN	RAD54-like 2 (S. cerevisiae)	419	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.					nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|transcription cofactor activity (GO:0003712)			NS(2)|breast(1)|cervix(2)|endometrium(4)|large_intestine(5)|liver(2)|lung(9)|ovary(4)|skin(2)	31				BRCA - Breast invasive adenocarcinoma(193;0.000102)|Kidney(197;0.000758)|KIRC - Kidney renal clear cell carcinoma(197;0.000896)		ATTTGCCACAGGTAGACCGAA	0.517																																						ENST00000409535.1																			0				NS(2)|breast(1)|cervix(2)|endometrium(4)|large_intestine(5)|liver(2)|lung(9)|ovary(4)|skin(2)	31						c.(1255-1257)gtfs		RAD54-like 2 (S. cerevisiae)							137.0	120.0	126.0					3																	51669721		2203	4300	6503	SO:0001589	frameshift_variant	23132					nucleus	ATP binding|DNA binding|helicase activity	g.chr3:51669721delG	AB018352	CCDS33765.2	3p21.2	2006-01-17			ENSG00000164080	ENSG00000164080			29123	protein-coding gene	gene with protein product						9872452	Standard	NM_015106		Approved	KIAA0809, SRISNF2L	uc011bdt.2	Q9Y4B4	OTTHUMG00000152936	ENST00000409535.2:c.1255delG	3.37:g.51669721delG	ENSP00000386520:p.Gly419fs					RAD54L2_ENST00000296477.3_Frame_Shift_Del_p.G113fs	p.G419fs	NM_015106.2	NP_055921.2	Q9Y4B4	ARIP4_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000102)|Kidney(197;0.000758)|KIRC - Kidney renal clear cell carcinoma(197;0.000896)	9	1380	+			419			Helicase ATP-binding.		Q8TB57|Q9BV54	Frame_Shift_Del	DEL	ENST00000409535.2	37	c.1255delG	CCDS33765.2																																																																																				0.517	RAD54L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328700.2	NM_015106		26	34						26	34	---	---	---	---
DZIP3	9666	broad.mit.edu	37	3	108394684	108394685	+	Frame_Shift_Del	DEL	TG	TG	-			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr3:108394684_108394685delTG	ENST00000361582.3	+	25	2975_2976	c.2745_2746delTG	c.(2743-2748)attgtgfs	p.V916fs	DZIP3_ENST00000463306.1_Frame_Shift_Del_p.V916fs	NM_014648.3	NP_055463.1	Q86Y13	DZIP3_HUMAN	DAZ interacting zinc finger protein 3	916					protein polyubiquitination (GO:0000209)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|phosphatase binding (GO:0019902)|poly(A) RNA binding (GO:0044822)|polyubiquitin binding (GO:0031593)|RNA binding (GO:0003723)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(21)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	45						GGAATGCCATTGTGGCAGATGT	0.371																																						ENST00000361582.3																			0				breast(3)|central_nervous_system(1)|endometrium(3)|large_intestine(9)|lung(21)|ovary(1)|pancreas(1)|prostate(5)|skin(1)	45						c.(2743-2748)attgfs		DAZ interacting zinc finger protein 3																																				SO:0001589	frameshift_variant	9666				protein polyubiquitination	cytoplasm	polyubiquitin binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr3:108394684_108394685delTG	AF279370	CCDS2952.1	3q13.13	2013-05-22	2013-05-22		ENSG00000198919	ENSG00000198919		"""RING-type (C3HC4) zinc fingers"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	30938	protein-coding gene	gene with protein product	"""human RNA-binding ubiquitin ligase of 138 kDa"", ""protein phosphatase 1, regulatory subunit 66"""	608672	"""DAZ interacting protein 3, zinc finger"""			9734811, 12538761	Standard	NM_014648		Approved	hRUL138, PPP1R66	uc003dxd.3	Q86Y13	OTTHUMG00000159232	ENST00000361582.3:c.2745_2746delTG	3.37:g.108394686_108394687delTG	ENSP00000355028:p.Val916fs					DZIP3_ENST00000463306.1_Frame_Shift_Del_p.IV915fs	p.IV915fs	NM_014648.3	NP_055463.1	Q86Y13	DZIP3_HUMAN			25	2975_2976	+			915					B3KN01|O75162|Q6P3R9|Q6PH82|Q86Y14|Q86Y15|Q86Y16|Q8IWI0|Q96RS9	Frame_Shift_Del	DEL	ENST00000361582.3	37	c.2745_2746delTG	CCDS2952.1																																																																																				0.371	DZIP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353968.1	NM_014648		13	54						13	54	---	---	---	---
TMCC1	23023	broad.mit.edu	37	3	129370576	129370578	+	In_Frame_Del	DEL	CTG	CTG	-			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr3:129370576_129370578delCTG	ENST00000393238.3	-	6	2048_2050	c.1708_1710delCAG	c.(1708-1710)cagdel	p.Q570del	TMCC1_ENST00000329333.5_In_Frame_Del_p.Q391del|TMCC1_ENST00000426664.2_In_Frame_Del_p.Q456del|TMCC1_ENST00000432054.2_In_Frame_Del_p.Q246del	NM_001017395.3	NP_001017395.2	O94876	TMCC1_HUMAN	transmembrane and coiled-coil domain family 1	570						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)			PLXND1/TMCC1(4)	breast(1)|endometrium(3)|large_intestine(8)|lung(12)|skin(1)	25						GCTGCACCACCTGCTGCTGCTGC	0.581																																						ENST00000393238.3																		PLXND1/TMCC1(4)	0				breast(1)|endometrium(3)|large_intestine(8)|lung(12)|skin(1)	25						c.(1708-1710)del		transmembrane and coiled-coil domain family 1																																				SO:0001651	inframe_deletion	23023					integral to membrane		g.chr3:129370576_129370578delCTG	AB018322	CCDS33855.1	3q21.3	2010-04-19	2005-07-13		ENSG00000172765	ENSG00000172765		"""Transmembrane and coiled-coil domain containing"""	29116	protein-coding gene	gene with protein product			"""transmembrane and coiled-coil domains 1"""			9872452	Standard	NR_033361		Approved	KIAA0779	uc021xdy.1	O94876	OTTHUMG00000159579	ENST00000393238.3:c.1708_1710delCAG	3.37:g.129370585_129370587delCTG	ENSP00000376930:p.Gln570del					TMCC1_ENST00000426664.2_In_Frame_Del_p.Q456del|TMCC1_ENST00000432054.2_In_Frame_Del_p.Q246del|TMCC1_ENST00000329333.5_In_Frame_Del_p.Q391del	p.Q570del	NM_001017395.3	NP_001017395.2	O94876	TMCC1_HUMAN			6	2048_2050	-			570					A8K5Y3|B4DE04|Q68E06|Q8IXM8	In_Frame_Del	DEL	ENST00000393238.3	37	c.1708_1710delCAG	CCDS33855.1																																																																																				0.581	TMCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356418.2	NM_015008		7	250						7	250	---	---	---	---
MED12L	116931	broad.mit.edu	37	3	151148114	151148116	+	In_Frame_Del	DEL	CAG	CAG	-	rs147600909		TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr3:151148114_151148116delCAG	ENST00000474524.1	+	42	6369_6371	c.6331_6333delCAG	c.(6331-6333)cagdel	p.Q2115del	MED12L_ENST00000273432.4_In_Frame_Del_p.Q1779del	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	mediator complex subunit 12-like	2115	Gln-rich.					mediator complex (GO:0016592)	RNA polymerase II transcription cofactor activity (GO:0001104)	p.Q2111E(1)		NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128			LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)			GCAGCAGACCCAGCAGCAGCAGC	0.527																																						ENST00000474524.1																			1	Substitution - Missense(1)	p.Q2111E(1)	lung(1)	NS(1)|breast(3)|central_nervous_system(3)|cervix(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(9)|large_intestine(27)|lung(50)|ovary(6)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	128						c.(6331-6333)del		mediator complex subunit 12-like																																				SO:0001651	inframe_deletion	116931				regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	mediator complex		g.chr3:151148114_151148116delCAG	AB046855, AF388364	CCDS33876.1	3q25.1	2007-07-30	2007-07-30		ENSG00000144893	ENSG00000144893			16050	protein-coding gene	gene with protein product		611318	"""mediator of RNA polymerase II transcription, subunit 12 homolog (S. cerevisiae)-like"""			11524702	Standard	XM_006713487		Approved	KIAA1635, TNRC11L, TRALPUSH, TRALP	uc003eyp.3	Q86YW9	OTTHUMG00000159844	ENST00000474524.1:c.6331_6333delCAG	3.37:g.151148123_151148125delCAG	ENSP00000417235:p.Gln2115del					MED12L_ENST00000273432.4_In_Frame_Del_p.Q1779del	p.Q2115del	NM_053002.4	NP_443728.3	Q86YW9	MD12L_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0394)|Lung(72;0.0517)		42	6369_6371	+			2115			Gln-rich.		Q96PC7|Q96PC8|Q9H9M5|Q9HCD7|Q9UI69	In_Frame_Del	DEL	ENST00000474524.1	37	c.6331_6333delCAG	CCDS33876.1																																																																																				0.527	MED12L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357707.2	NM_053002		7	245						7	245	---	---	---	---
LINC00969	440993	broad.mit.edu	37	3	195398141	195398141	+	lincRNA	DEL	G	G	-			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr3:195398141delG	ENST00000445430.1	+	0	1058									long intergenic non-protein coding RNA 969																		GTGGTGTCTCGGTGGATGACT	0.577																																						ENST00000445430.1																			0																																																			440993							g.chr3:195398141delG	AK128346		3q29	2013-06-07			ENSG00000242086	ENSG00000242086		"""Long non-coding RNAs"""	48729	non-coding RNA	RNA, long non-coding							Standard	XR_427455		Approved				OTTHUMG00000155834		3.37:g.195398141delG														0	1058	+									RNA	DEL	ENST00000445430.1	37																																																																																						0.577	LINC00969-038	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000341951.1			41	186						41	186	---	---	---	---
ATP8A1	10396	broad.mit.edu	37	4	42448632	42448632	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr4:42448632delC	ENST00000381668.5	-	31	3157	c.2926delG	c.(2926-2928)gatfs	p.D976fs	ATP8A1_ENST00000264449.10_Frame_Shift_Del_p.D961fs|AC084010.1_ENST00000582816.1_RNA	NM_006095.2	NP_006086.1	Q9Y2Q0	AT8A1_HUMAN	ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1	976					cation transmembrane transport (GO:0098655)|ion transmembrane transport (GO:0034220)|phospholipid translocation (GO:0045332)|transmembrane transport (GO:0055085)	cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			NS(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	51					Phosphatidylserine(DB00144)	AGCAGATAATCCGAGGTTTTC	0.388																																						ENST00000381668.5																			0				NS(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(13)|lung(18)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	51						c.(2926-2928)atfs		ATPase, aminophospholipid transporter (APLT), class I, type 8A, member 1	Phosphatidylserine(DB00144)						111.0	100.0	104.0					4																	42448632		2203	4300	6503	SO:0001589	frameshift_variant	10396				ATP biosynthetic process	chromaffin granule membrane|integral to membrane|plasma membrane	aminophospholipid transporter activity|ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|cation-transporting ATPase activity|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr4:42448632delC	AF067820	CCDS3466.1, CCDS47049.1	4p13	2010-04-20	2007-09-19		ENSG00000124406	ENSG00000124406		"""ATPases / P-type"""	13531	protein-coding gene	gene with protein product		609542	"""ATPase, aminophospholipid transporter (APLT), Class I, type 8A, member 1"""			10198212, 9548971	Standard	NM_006095		Approved	ATPIA	uc003gwr.2	Q9Y2Q0	OTTHUMG00000099403	ENST00000381668.5:c.2926delG	4.37:g.42448632delC	ENSP00000371084:p.Asp976fs					ATP8A1_ENST00000264449.10_Frame_Shift_Del_p.D961fs	p.D976fs	NM_006095.2	NP_006086.1	Q9Y2Q0	AT8A1_HUMAN			31	3157	-			976					Q32M35|Q32M36|Q4W5J7|Q4W5P2	Frame_Shift_Del	DEL	ENST00000381668.5	37	c.2926delG	CCDS3466.1																																																																																				0.388	ATP8A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000216861.2	NM_006095		32	66						32	66	---	---	---	---
FAM13A	10144	broad.mit.edu	37	4	89660260	89660261	+	Frame_Shift_Ins	INS	-	-	GTTCG	rs200222917		TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr4:89660260_89660261insGTTCG	ENST00000264344.5	-	20	2689_2690	c.2482_2483insCGAAC	c.(2482-2484)cggfs	p.R828fs	FAM13A_ENST00000513837.1_Frame_Shift_Ins_p.R474fs|FAM13A_ENST00000508369.1_Frame_Shift_Ins_p.R502fs|FAM13A_ENST00000511976.1_Frame_Shift_Ins_p.R414fs|FAM13A_ENST00000395002.2_Frame_Shift_Ins_p.R502fs|FAM13A_ENST00000503556.1_Frame_Shift_Ins_p.R488fs	NM_014883.3	NP_055698.2	O94988	FA13A_HUMAN	family with sequence similarity 13, member A	828					regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	GTPase activator activity (GO:0005096)			NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	55						CATCACCTGCCGTTCGTTCTTT	0.49																																						ENST00000264344.5																			0				NS(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	55						c.(2482-2484)gcafs		family with sequence similarity 13, member A																																				SO:0001589	frameshift_variant	10144				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol	GTPase activator activity	g.chr4:89660260_89660261insGTTCG	AB020721	CCDS34029.1, CCDS43251.1, CCDS58911.1, CCDS58912.1, CCDS58913.1	4q22.1	2011-09-07	2009-01-20	2009-01-20	ENSG00000138640	ENSG00000138640		"""Rho GTPase activating proteins"""	19367	protein-coding gene	gene with protein product		613299	"""family with sequence similarity 13, member A1"""	FAM13A1			Standard	NM_014883		Approved	KIAA0914, ARHGAP48	uc003hse.2	O94988	OTTHUMG00000161006	ENST00000264344.5:c.2478_2482dupCGAAC	4.37:g.89660261_89660265dupGTTCG	ENSP00000264344:p.Arg828fs					FAM13A_ENST00000503556.1_Frame_Shift_Ins_p.A488fs|FAM13A_ENST00000395002.2_Frame_Shift_Ins_p.A502fs|FAM13A_ENST00000513837.1_Frame_Shift_Ins_p.A474fs|FAM13A_ENST00000508369.1_Frame_Shift_Ins_p.A502fs|FAM13A_ENST00000511976.1_Frame_Shift_Ins_p.A414fs	p.A828fs	NM_014883.3	NP_055698.2	O94988	FA13A_HUMAN			20	2689_2690	-			828					B4DLC1|Q24JP0|Q5PR21|Q8NBA3	Frame_Shift_Ins	INS	ENST00000264344.5	37	c.2482_2483insCGAAC	CCDS34029.1																																																																																				0.490	FAM13A-022	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363371.1			16	275						16	275	---	---	---	---
PIK3R1	5295	broad.mit.edu	37	5	67589623	67589634	+	In_Frame_Del	DEL	ATATGATAGATT	ATATGATAGATT	-			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr5:67589623_67589634delATATGATAGATT	ENST00000521381.1	+	11	2002_2013	c.1386_1397delATATGATAGATT	c.(1384-1398)gaatatgatagatta>gaa	p.YDRL463del	PIK3R1_ENST00000320694.8_In_Frame_Del_p.YDRL163del|PIK3R1_ENST00000396611.1_In_Frame_Del_p.YDRL463del|PIK3R1_ENST00000523872.1_In_Frame_Del_p.YDRL100del|PIK3R1_ENST00000336483.5_In_Frame_Del_p.YDRL193del|PIK3R1_ENST00000521657.1_In_Frame_Del_p.YDRL463del|PIK3R1_ENST00000274335.5_In_Frame_Del_p.YDRL463del	NM_181523.2	NP_852664.1	P27986	P85A_HUMAN	phosphoinositide-3-kinase, regulatory subunit 1 (alpha)	463					B cell differentiation (GO:0030183)|blood coagulation (GO:0007596)|cellular response to UV (GO:0034644)|epidermal growth factor receptor signaling pathway (GO:0007173)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|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)|growth hormone receptor signaling pathway (GO:0060396)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|leukocyte migration (GO:0050900)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of osteoclast differentiation (GO:0045671)|neurotrophin TRK receptor signaling pathway (GO:0048011)|NFAT protein import into nucleus (GO:0051531)|phosphatidylinositol 3-kinase signaling (GO:0014065)|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 cell migration (GO:0030335)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of glucose import (GO:0046326)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|protein phosphorylation (GO:0006468)|regulation of phosphatidylinositol 3-kinase activity (GO:0043551)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|viral process (GO:0016032)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cell-cell junction (GO:0005911)|cytosol (GO:0005829)|membrane (GO:0016020)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	ErbB-3 class receptor binding (GO:0043125)|insulin binding (GO:0043559)|insulin receptor binding (GO:0005158)|insulin receptor substrate binding (GO:0043560)|insulin-like growth factor receptor binding (GO:0005159)|neurotrophin TRKA receptor binding (GO:0005168)|phosphatidylinositol 3-kinase binding (GO:0043548)|phosphatidylinositol 3-kinase regulator activity (GO:0035014)|protein phosphatase binding (GO:0019903)|transmembrane receptor protein tyrosine kinase adaptor activity (GO:0005068)	p.D464fs*2(1)|p.Y193C(1)|p.0?(1)|p.?(1)|p.D464H(1)|p.Y463fs*1(1)|p.E462_R465delEYDR(1)|p.Y463C(1)|p.Y463_L466del(1)|p.T454_D464del(1)|p.Y163C(1)		breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	Isoprenaline(DB01064)	AAAGTCGAGAATATGATAGATTATATGAAGAA	0.283			"""Mis, F, O"""		"""gliobastoma, ovarian, colorectal"""					TCGA GBM(4;<1E-08)																												ENST00000521381.1				Rec	yes		5	5q13.1	5295	"""Mis, F, O"""	"""phosphoinositide-3-kinase, regulatory subunit 1 (alpha)"""			"""E, O"""			"""gliobastoma, ovarian, colorectal"""		11	Substitution - Missense(4)|Deletion - In frame(3)|Insertion - Frameshift(1)|Deletion - Frameshift(1)|Whole gene deletion(1)|Unknown(1)	p.D464fs*2(1)|p.Y193C(1)|p.0?(1)|p.?(1)|p.D464H(1)|p.Y463fs*1(1)|p.E462_R465delEYDR(1)|p.Y463C(1)|p.Y463_L466del(1)|p.T454_D464del(1)|p.Y163C(1)	endometrium(7)|lung(2)|large_intestine(1)|central_nervous_system(1)	breast(12)|central_nervous_system(31)|cervix(1)|endometrium(68)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(32)|lung(10)|ovary(9)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(2)	178						c.(1384-1398)gaa>ga		phosphoinositide-3-kinase, regulatory subunit 1 (alpha)	Isoproterenol(DB01064)																																			SO:0001651	inframe_deletion	5295				epidermal growth factor receptor signaling pathway|fibroblast growth factor receptor signaling pathway|growth hormone receptor signaling pathway|insulin receptor signaling pathway|insulin-like growth factor receptor signaling pathway|interspecies interaction between organisms|leukocyte migration|nerve growth factor receptor signaling pathway|phosphatidylinositol 3-kinase cascade|phosphatidylinositol phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose import|T cell costimulation|T cell receptor signaling pathway	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex	1-phosphatidylinositol binding|ErbB-3 class receptor binding|insulin binding|insulin receptor binding|insulin receptor substrate binding|insulin-like growth factor receptor binding|phosphatidylinositol 3-kinase regulator activity|protein phosphatase binding	g.chr5:67589623_67589634delATATGATAGATT	M61906	CCDS3993.1, CCDS3994.1, CCDS3995.1, CCDS56374.1	5q13.1	2014-09-17	2008-02-04		ENSG00000145675	ENSG00000145675		"""SH2 domain containing"""	8979	protein-coding gene	gene with protein product		171833				1314371, 18387942	Standard	NM_181524		Approved	GRB1, p85-ALPHA, p85	uc003jva.3	P27986	OTTHUMG00000131251	ENST00000521381.1:c.1386_1397delATATGATAGATT	5.37:g.67589623_67589634delATATGATAGATT	ENSP00000428056:p.Tyr463_Leu466del	TCGA GBM(4;<1E-08)				PIK3R1_ENST00000320694.8_In_Frame_Del_p.EYDRL162del|PIK3R1_ENST00000396611.1_In_Frame_Del_p.EYDRL462del|PIK3R1_ENST00000521657.1_In_Frame_Del_p.EYDRL462del|PIK3R1_ENST00000274335.5_In_Frame_Del_p.EYDRL462del|PIK3R1_ENST00000523872.1_In_Frame_Del_p.EYDRL99del|PIK3R1_ENST00000336483.5_In_Frame_Del_p.EYDRL192del	p.EYDRL462del	NM_181523.2	NP_852664.1	P27986	P85A_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;3.76e-51)|Lung(70;0.0211)	11	2002_2013	+		Lung NSC(167;1.99e-05)|Prostate(74;0.00308)|Ovarian(174;0.00473)|Colorectal(97;0.0176)	462					B3KT19|D3DWA0|E7EX19|Q15747|Q4VBZ7|Q53EM6|Q8IXA2|Q8N1C5	In_Frame_Del	DEL	ENST00000521381.1	37	c.1386_1397delATATGATAGATT	CCDS3993.1																																																																																				0.283	PIK3R1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254013.2	NM_181504		38	74						38	74	---	---	---	---
PCDHA7	56141	broad.mit.edu	37	5	140216084	140216085	+	Frame_Shift_Ins	INS	-	-	A	rs138671187|rs547705434		TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr5:140216084_140216085insA	ENST00000525929.1	+	1	2116_2117	c.2116_2117insA	c.(2116-2118)gcgfs	p.A706fs	PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA7_ENST00000378125.3_Frame_Shift_Ins_p.A706fs	NM_018910.2	NP_061733.1	Q9UN72	PCDA7_HUMAN	protocadherin alpha 7	706					cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(2)|biliary_tract(1)|breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGCCATCTGCGCGGTGTCCAGT	0.619																																					NSCLC(160;258 2013 5070 22440 28951)	ENST00000525929.1																			0				NS(2)|biliary_tract(1)|breast(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(27)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	63						c.(2116-2118)ggtfs																																						SO:0001589	frameshift_variant	56141							g.chr5:140216084_140216085insA	AF152485	CCDS54918.1	5q31	2010-11-26				ENSG00000204963		"""Cadherins / Protocadherins : Clustered"""	8673	other	complex locus constituent	"""KIAA0345-like 7"", ""ortholog to mouse CNR4"""	606313		CNRS4		10380929, 10662547	Standard	NM_018910		Approved	CNR4, CRNR4		Q9UN72		Exception_encountered	5.37:g.140216084_140216085insA	ENSP00000436426:p.Ala706fs					PCDHA5_ENST00000529859.1_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA7_ENST00000378125.3_Frame_Shift_Ins_p.G706fs|PCDHA1_ENST00000394633.3_Intron	p.G706fs	NM_018910.2	NP_061733.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2116_2117	+								O75282	Frame_Shift_Ins	INS	ENST00000525929.1	37	c.2116_2117insA	CCDS54918.1																																																																																				0.619	PCDHA7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372887.2	NM_018910		117	195						117	195	---	---	---	---
QKI	9444	broad.mit.edu	37	6	163899920	163899920	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr6:163899920delA	ENST00000361752.3	+	3	945	c.394delA	c.(394-396)aaafs	p.K134fs	QKI_ENST00000424802.3_Frame_Shift_Del_p.K134fs|QKI_ENST00000361195.2_Frame_Shift_Del_p.K134fs|QKI_ENST00000392127.2_Frame_Shift_Del_p.K134fs|QKI_ENST00000453779.2_Frame_Shift_Del_p.K134fs|QKI_ENST00000275262.7_Frame_Shift_Del_p.K134fs	NM_006775.2|NM_206853.2|NM_206854.2|NM_206855.2	NP_006766.1|NP_996735.1|NP_996736.1|NP_996737.1	Q96PU8	QKI_HUMAN	QKI, KH domain containing, RNA binding	134	KH.				long-chain fatty acid biosynthetic process (GO:0042759)|mRNA processing (GO:0006397)|mRNA transport (GO:0051028)|muscle cell differentiation (GO:0042692)|myelination (GO:0042552)|positive regulation of gene expression (GO:0010628)|regulation of translation (GO:0006417)|RNA splicing (GO:0008380)|spermatid development (GO:0007286)|vasculogenesis (GO:0001570)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.K134fs*14(1)		central_nervous_system(1)|endometrium(2)|large_intestine(13)|lung(5)|ovary(1)|prostate(3)|urinary_tract(2)	27		Breast(66;5e-05)|Prostate(117;0.0235)|all_neural(5;0.0416)|Ovarian(120;0.0448)|Glioma(2;0.203)		all cancers(1;4.4e-46)|OV - Ovarian serous cystadenocarcinoma(33;6.91e-23)|GBM - Glioblastoma multiforme(1;2.94e-19)|BRCA - Breast invasive adenocarcinoma(81;1.49e-06)|Kidney(3;0.000199)|KIRC - Kidney renal clear cell carcinoma(3;0.000234)		AATGAGGGATAAAAAAAAGGT	0.363																																						ENST00000361752.3																			1	Deletion - Frameshift(1)	p.K134fs*14(1)	large_intestine(1)	central_nervous_system(1)|endometrium(2)|large_intestine(13)|lung(5)|ovary(1)|prostate(3)|urinary_tract(2)	27						c.(394-396)aafs		QKI, KH domain containing, RNA binding							79.0	80.0	80.0					6																	163899920		2203	4300	6503	SO:0001589	frameshift_variant	9444				mRNA processing|mRNA transport|regulation of translation|RNA splicing	cytoplasm|nucleus|plasma membrane	RNA binding|SH3 domain binding	g.chr6:163899920delA	AB067798	CCDS5285.1, CCDS5286.1, CCDS5287.1, CCDS43525.1, CCDS75546.1	6q26	2011-09-12	2011-09-12		ENSG00000112531	ENSG00000112531			21100	protein-coding gene	gene with protein product		609590	"""quaking homolog, KH domain RNA binding (mouse)"""			10535969	Standard	NM_006775		Approved	QK3	uc003qui.3	Q96PU8	OTTHUMG00000015977	ENST00000361752.3:c.394delA	6.37:g.163899920delA	ENSP00000355094:p.Lys134fs					QKI_ENST00000392127.2_Frame_Shift_Del_p.K134fs|QKI_ENST00000453779.2_Frame_Shift_Del_p.K134fs|QKI_ENST00000361195.2_Frame_Shift_Del_p.K134fs|QKI_ENST00000424802.3_Frame_Shift_Del_p.K134fs|QKI_ENST00000275262.7_Frame_Shift_Del_p.K134fs	p.K134fs	NM_006775.2|NM_206853.2|NM_206854.2|NM_206855.2	NP_006766.1|NP_996735.1|NP_996736.1|NP_996737.1	Q96PU8	QKI_HUMAN		all cancers(1;4.4e-46)|OV - Ovarian serous cystadenocarcinoma(33;6.91e-23)|GBM - Glioblastoma multiforme(1;2.94e-19)|BRCA - Breast invasive adenocarcinoma(81;1.49e-06)|Kidney(3;0.000199)|KIRC - Kidney renal clear cell carcinoma(3;0.000234)	3	945	+		Breast(66;5e-05)|Prostate(117;0.0235)|all_neural(5;0.0416)|Ovarian(120;0.0448)|Glioma(2;0.203)	134			KH.		Q2I375|Q5MJQ1|Q969L9|Q96EJ3|Q96KA3|Q96PU6|Q96PU7|Q9P0X6|Q9P0X7|Q9P0X8|Q9P0X9|Q9P0Y0|Q9P0Y1	Frame_Shift_Del	DEL	ENST00000361752.3	37	c.394delA	CCDS5285.1																																																																																				0.363	QKI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043016.2	NM_006775		7	160						7	160	---	---	---	---
STAG3L2	442582	broad.mit.edu	37	7	74300557	74300564	+	RNA	DEL	AGAGCTCC	AGAGCTCC	-	rs367732188		TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr7:74300557_74300564delAGAGCTCC	ENST00000423186.1	-	0	573_580							P0CL84	ST3L2_HUMAN	stromal antigen 3-like 2 (pseudogene)							nucleus (GO:0005634)		p.E82fs*32(2)		breast(1)|central_nervous_system(1)|large_intestine(1)|lung(1)|pancreas(1)	5						CGGCCAGTGAAGAGCTCCAGGCGTGCGG	0.572																																						ENST00000423186.1																			2	Deletion - Frameshift(2)	p.E82fs*32(2)	large_intestine(1)|central_nervous_system(1)	breast(1)|central_nervous_system(1)|large_intestine(1)|lung(1)|pancreas(1)	5												96,356		38,20,168							0.0			1	208,1036		88,32,502	no	frameshift	STAG3L2	NM_001025202.2		126,52,670	A1A1,A1R,RR		16.7203,21.2389,17.9245				304,1392						442582					nucleus	binding	g.chr7:74300557_74300564delAGAGCTCC			7q11.23	2013-06-26	2013-06-26			ENSG00000277072			33886	pseudogene	pseudogene			"""stromal antigen 3-like 2"""				Standard	NR_040584		Approved	MGC131759, STAG3L2P	uc011kfj.2	P0CL84	OTTHUMG00000156216		7.37:g.74300557_74300564delAGAGCTCC										P0CL84	ST3L2_HUMAN			0	573_580	-								A6NMT8|A8K0A1|Q32NE4|Q6NXR2|Q7L5M5|Q7Z5K6	RNA	DEL	ENST00000423186.1	37																																																																																						0.572	STAG3L2-002	KNOWN	basic	retained_intron	pseudogene	OTTHUMT00000343523.2	NM_001025202		12	11						12	11	---	---	---	---
SRRT	51593	broad.mit.edu	37	7	100482040	100482042	+	In_Frame_Del	DEL	AGG	AGG	-			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr7:100482040_100482042delAGG	ENST00000347433.4	+	7	967_969	c.809_811delAGG	c.(808-813)caggag>cag	p.E275del	SRRT_ENST00000432932.1_In_Frame_Del_p.E275del|SRRT_ENST00000388793.4_In_Frame_Del_p.E275del|SRRT_ENST00000457580.2_In_Frame_Del_p.E275del			Q9BXP5	SRRT_HUMAN	serrate, RNA effector molecule	275	Glu-rich.				cell proliferation (GO:0008283)|neuronal stem cell maintenance (GO:0097150)|primary miRNA processing (GO:0031053)|regulation of transcription, DNA-templated (GO:0006355)|response to arsenic-containing substance (GO:0046685)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(5)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40						ATCCTGGAGCAGGAGGAGGAGGA	0.596																																						ENST00000388793.4																			0				breast(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(5)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	40						c.(808-813)cag>c		serrate RNA effector molecule homolog (Arabidopsis)																																				SO:0001651	inframe_deletion	51593				cell proliferation|primary miRNA processing|response to arsenic-containing substance	cytoplasm|nucleoplasm	protein binding	g.chr7:100482040_100482042delAGG		CCDS34709.1, CCDS47665.1, CCDS47666.1, CCDS47667.1	7q21	2014-04-14	2014-04-14		ENSG00000087087	ENSG00000087087			24101	protein-coding gene	gene with protein product	"""arsenite resistance protein"""	614469	"""serrate RNA effector molecule homolog (Arabidopsis)"""			11239002, 11230166	Standard	NM_015908		Approved	Asr2, serrate, ARS2	uc003uwy.2	Q9BXP5	OTTHUMG00000157031	ENST00000347433.4:c.809_811delAGG	7.37:g.100482049_100482051delAGG	ENSP00000314491:p.Glu275del					SRRT_ENST00000347433.4_In_Frame_Del_p.QE270del|SRRT_ENST00000457580.2_In_Frame_Del_p.QE270del|SRRT_ENST00000432932.1_In_Frame_Del_p.QE270del	p.QE270del	NM_001128852.1|NM_015908.5	NP_001122324.1|NP_056992.4	Q9BXP5	SRRT_HUMAN			7	1029_1031	+			270			Glu-rich.		A4D2E5|A4D2E6|A6NK22|B4DJL4|B4DZA6|O95808|Q32MI4|Q6NT74|Q8TDQ5|Q9BWP6|Q9BXP4|Q9Y4S4	In_Frame_Del	DEL	ENST00000347433.4	37	c.809_811delAGG	CCDS34709.1																																																																																				0.596	SRRT-004	NOVEL	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000347168.1	NM_015908		7	82						7	82	---	---	---	---
TRBV7-1	28597	broad.mit.edu	37	7	142032037	142032037	+	RNA	DEL	C	C	-			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr7:142032037delC	ENST00000547918.2	+	0	32									T cell receptor beta variable 7-1 (non-functional)																		CCTGACCCTGCCATGGGCACA	0.567																																						ENST00000547918.2																			0																																																			28597							g.chr7:142032037delC	X61444		7q34	2012-02-07	2008-09-12		ENSG00000211707	ENSG00000211707		"""T cell receptors / TRB locus"""	12235	other	T cell receptor gene			"""T cell receptor beta variable 7-1"""			8650574	Standard	NG_001333		Approved	TRBV71, TCRBV6S7P, TCRBV7S1			OTTHUMG00000158529		7.37:g.142032037delC														0	32	+									RNA	DEL	ENST00000547918.2	37																																																																																						0.567	TRBV7-1-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	TR_V_gene	TR_V_gene	OTTHUMT00000351235.1	NG_001333		30	59						30	59	---	---	---	---
C9orf43	257169	broad.mit.edu	37	9	116187646	116187648	+	In_Frame_Del	DEL	GCA	GCA	-	rs374165893|rs371732185		TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr9:116187646_116187648delGCA	ENST00000288462.4	+	10	1334_1336	c.888_890delGCA	c.(886-891)cggcag>cgg	p.Q304del	C9orf43_ENST00000374165.1_In_Frame_Del_p.Q304del	NM_152786.1	NP_689999.1	Q8TAL5	CI043_HUMAN	chromosome 9 open reading frame 43	304	Gln-rich.									breast(2)|large_intestine(6)|lung(2)|ovary(1)|pancreas(1)|prostate(3)	15						agcagcagcggcagcagcagcag	0.557																																						ENST00000288462.4																			0				breast(2)|large_intestine(6)|lung(2)|ovary(1)|pancreas(1)|prostate(3)	15						c.(886-891)cgg>cg		chromosome 9 open reading frame 43				2,231,68,3961		0,0,0,2,0,0,231,2,64,1832						-2.8	0.0			63	18,338,431,7463		2,0,0,14,0,0,338,9,413,3349	no	codingComplex	C9orf43	NM_152786.1		2,0,0,16,0,0,569,11,477,5181	A1A1,A1A2,A1A3,A1R,A2A2,A2A3,A2R,A3A3,A3R,RR		9.5394,7.0624,8.6957				20,569,499,11424				SO:0001651	inframe_deletion	257169							g.chr9:116187646_116187648delGCA	BC026884	CCDS6796.1	9q33.1	2012-03-15			ENSG00000157653	ENSG00000157653			23570	protein-coding gene	gene with protein product						12477932	Standard	NM_152786		Approved	MGC17358	uc004bhp.3	Q8TAL5	OTTHUMG00000020526	ENST00000288462.4:c.888_890delGCA	9.37:g.116187655_116187657delGCA	ENSP00000288462:p.Gln304del					C9orf43_ENST00000374165.1_In_Frame_Del_p.RQ296del	p.RQ296del	NM_152786.1	NP_689999.1	Q8TAL5	CI043_HUMAN			10	1334_1336	+			296			Gln-rich.			In_Frame_Del	DEL	ENST00000288462.4	37	c.888_890delGCA	CCDS6796.1																																																																																				0.557	C9orf43-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053739.1	NM_152786		7	196						7	196	---	---	---	---
CCND1	595	broad.mit.edu	37	11	69465988	69465990	+	In_Frame_Del	DEL	GAG	GAG	-			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr11:69465988_69465990delGAG	ENST00000227507.2	+	5	1053_1055	c.826_828delGAG	c.(826-828)gagdel	p.E280del	ORAOV1_ENST00000542515.1_5'Flank	NM_053056.2	NP_444284.1	P24385	CCND1_HUMAN	cyclin D1	280	Poly-Glu.				canonical Wnt signaling pathway (GO:0060070)|cell division (GO:0051301)|cellular response to DNA damage stimulus (GO:0006974)|endoplasmic reticulum unfolded protein response (GO:0030968)|fat cell differentiation (GO:0045444)|G1/S transition of mitotic cell cycle (GO:0000082)|lactation (GO:0007595)|Leydig cell differentiation (GO:0033327)|liver development (GO:0001889)|mammary gland alveolus development (GO:0060749)|mammary gland epithelial cell proliferation (GO:0033598)|mitotic cell cycle (GO:0000278)|mitotic G1 DNA damage checkpoint (GO:0031571)|negative regulation of cell cycle arrest (GO:0071157)|negative regulation of epithelial cell differentiation (GO:0030857)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of Wnt signaling pathway (GO:0030178)|Notch signaling pathway (GO:0007219)|organ regeneration (GO:0031100)|positive regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045737)|positive regulation of G2/M transition of mitotic cell cycle (GO:0010971)|positive regulation of mammary gland epithelial cell proliferation (GO:0033601)|positive regulation of protein phosphorylation (GO:0001934)|re-entry into mitotic cell cycle (GO:0000320)|response to calcium ion (GO:0051592)|response to corticosterone (GO:0051412)|response to drug (GO:0042493)|response to estrogen (GO:0043627)|response to ethanol (GO:0045471)|response to iron ion (GO:0010039)|response to magnesium ion (GO:0032026)|response to organonitrogen compound (GO:0010243)|response to UV-A (GO:0070141)|response to vitamin E (GO:0033197)|response to X-ray (GO:0010165)|transcription, DNA-templated (GO:0006351)	cyclin-dependent protein kinase holoenzyme complex (GO:0000307)|cytosol (GO:0005829)|intracellular (GO:0005622)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|tight junction (GO:0005923)|transcriptional repressor complex (GO:0017053)	cyclin-dependent protein serine/threonine kinase regulator activity (GO:0016538)|enzyme binding (GO:0019899)|histone deacetylase binding (GO:0042826)|proline-rich region binding (GO:0070064)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)			NS(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|lung(7)|ovary(1)|urinary_tract(1)	23	all_cancers(3;2.01e-114)|all_epithelial(3;3.59e-122)|Breast(3;5.4e-34)|all_lung(4;1.99e-21)|Lung NSC(4;4.65e-21)|Hepatocellular(3;8.22e-16)|Melanoma(5;1.89e-05)|Ovarian(3;0.0348)		Epithelial(3;7.2e-57)|all cancers(3;7.75e-51)|BRCA - Breast invasive adenocarcinoma(2;4.9e-48)|Lung(3;1.13e-16)|LUSC - Lung squamous cell carcinoma(11;3.74e-15)|STAD - Stomach adenocarcinoma(18;0.0278)|LUAD - Lung adenocarcinoma(13;0.0537)		Arsenic trioxide(DB01169)	ggaggaggaagaggaggaggagg	0.704			T	"""IGH@, FSTL3"""	"""CLL, B-ALL, breast"""					Multiple Myeloma(6;0.086)																											Pancreas(65;393 884 2788 21700 24360 27795 36895)	ENST00000227507.2				Dom	yes		11	11q13	595	T	cyclin D1			"""L, E"""	"""IGH@, FSTL3"""		"""CLL, B-ALL, breast"""		0				NS(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|lung(7)|ovary(1)|urinary_tract(1)	23						c.(826-828)del		cyclin D1	Arsenic trioxide(DB01169)																																			SO:0001651	inframe_deletion	595				cell division|G1 phase of mitotic cell cycle|G1/S transition of mitotic cell cycle|mitotic cell cycle G1/S transition DNA damage checkpoint|positive regulation of cyclin-dependent protein kinase activity|positive regulation of protein phosphorylation|response to drug|response to UV-A|S phase of mitotic cell cycle	cyclin-dependent protein kinase holoenzyme complex|cytosol|membrane|nucleoplasm	protein kinase binding	g.chr11:69465988_69465990delGAG	Z23022	CCDS8191.1	11q13	2008-07-18	2005-09-12		ENSG00000110092	ENSG00000110092			1582	protein-coding gene	gene with protein product	"""parathyroid adenomatosis 1"", ""B-cell CLL/lymphoma 1"", ""G1/S-specific cyclin D1"""	168461	"""cyclin D1 (PRAD1: parathyroid adenomatosis 1)"""	BCL1, D11S287E, PRAD1		1826542, 1833066	Standard	XM_006718653		Approved	U21B31	uc001opa.3	P24385	OTTHUMG00000167877	ENST00000227507.2:c.826_828delGAG	11.37:g.69465997_69465999delGAG	ENSP00000227507:p.Glu280del	Multiple Myeloma(6;0.086)					p.E280del	NM_053056.2	NP_444284.1	P24385	CCND1_HUMAN	Epithelial(3;7.2e-57)|all cancers(3;7.75e-51)|BRCA - Breast invasive adenocarcinoma(2;4.9e-48)|Lung(3;1.13e-16)|LUSC - Lung squamous cell carcinoma(11;3.74e-15)|STAD - Stomach adenocarcinoma(18;0.0278)|LUAD - Lung adenocarcinoma(13;0.0537)		5	1053_1055	+	all_cancers(3;2.01e-114)|all_epithelial(3;3.59e-122)|Breast(3;5.4e-34)|all_lung(4;1.99e-21)|Lung NSC(4;4.65e-21)|Hepatocellular(3;8.22e-16)|Melanoma(5;1.89e-05)|Ovarian(3;0.0348)		280			Poly-Glu.		Q6LEF0	In_Frame_Del	DEL	ENST00000227507.2	37	c.826_828delGAG	CCDS8191.1																																																																																				0.704	CCND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396775.2	NM_053056		8	958						8	958	---	---	---	---
GRIK4	2900	broad.mit.edu	37	11	120776131	120776131	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr11:120776131delG	ENST00000527524.2	+	13	1692	c.1405delG	c.(1405-1407)gggfs	p.G469fs	GRIK4_ENST00000438375.2_Frame_Shift_Del_p.G469fs	NM_001282470.1	NP_001269399.1	Q16099	GRIK4_HUMAN	glutamate receptor, ionotropic, kainate 4	469					glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|response to corticosteroid (GO:0031960)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|kainate selective glutamate receptor complex (GO:0032983)|nucleus (GO:0005634)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	extracellular-glutamate-gated ion channel activity (GO:0005234)|kainate selective glutamate receptor activity (GO:0015277)	p.G469W(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(20)|liver(1)|lung(29)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1)	69		Breast(109;0.000868)|Medulloblastoma(222;0.0453)|all_neural(223;0.116)|all_hematologic(192;0.21)		BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.116)		CCGCCTGGTTGGGGATGGCGT	0.597																																						ENST00000527524.2																			1	Substitution - Missense(1)	p.G469W(1)	lung(1)	NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(20)|liver(1)|lung(29)|ovary(2)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(1)	69						c.(1405-1407)ggfs		glutamate receptor, ionotropic, kainate 4	L-Glutamic Acid(DB00142)						146.0	145.0	145.0					11																	120776131		2203	4299	6502	SO:0001589	frameshift_variant	2900				glutamate signaling pathway|synaptic transmission	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity	g.chr11:120776131delG	S67803	CCDS8433.1	11q23.3	2012-08-29			ENSG00000149403	ENSG00000149403		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4582	protein-coding gene	gene with protein product		600282		GRIK			Standard	NM_001282470		Approved	GluK4, KA1	uc009zax.1	Q16099	OTTHUMG00000048255	ENST00000527524.2:c.1405delG	11.37:g.120776131delG	ENSP00000435648:p.Gly469fs					GRIK4_ENST00000438375.2_Frame_Shift_Del_p.G469fs	p.G469fs			Q16099	GRIK4_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.24e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.116)	13	1692	+		Breast(109;0.000868)|Medulloblastoma(222;0.0453)|all_neural(223;0.116)|all_hematologic(192;0.21)	469					A8K9L1	Frame_Shift_Del	DEL	ENST00000527524.2	37	c.1405delG	CCDS8433.1																																																																																				0.597	GRIK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109760.4	NM_014619		162	194						162	194	---	---	---	---
ZFC3H1	196441	broad.mit.edu	37	12	72057256	72057258	+	In_Frame_Del	DEL	GCT	GCT	-			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr12:72057256_72057258delGCT	ENST00000378743.3	-	1	491_493	c.133_135delAGC	c.(133-135)agcdel	p.S45del	THAP2_ENST00000308086.2_5'UTR|ZFC3H1_ENST00000549407.1_5'Flank|ZFC3H1_ENST00000548100.1_In_Frame_Del_p.S45del|ZFC3H1_ENST00000552037.1_In_Frame_Del_p.S45del|THAP2_ENST00000547843.1_5'Flank	NM_144982.4	NP_659419.3	O60293	ZC3H1_HUMAN	zinc finger, C3H1-type containing	45	Ser-rich.				RNA processing (GO:0006396)	extracellular space (GO:0005615)|intracellular (GO:0005622)	metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(31)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						GCCCGCCGCCGCTGCTGCTGCTG	0.631											OREG0021993	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000378743.3																			0				NS(1)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(12)|lung(31)|ovary(3)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						c.(133-135)del		zinc finger, C3H1-type containing				2,34,3866		0,0,2,4,26,1919						4.0	1.0			58	1,83,7932		0,0,1,9,65,3933	no	codingComplex	ZFC3H1	NM_144982.4		0,0,3,13,91,5852	A1A1,A1A2,A1R,A2A2,A2R,RR		1.0479,0.9226,1.0069				3,117,11798				SO:0001651	inframe_deletion	196441				RNA processing	intracellular	metal ion binding	g.chr12:72057256_72057258delGCT	AB011118	CCDS41813.1	12q21.1	2013-01-25	2008-10-01	2008-10-01		ENSG00000133858		"""Zinc finger, C3H1-type containing"""	28328	protein-coding gene	gene with protein product			"""proline/serine-rich coiled-coil 2"", ""coiled-coil domain containing 131"""	PSRC2, CCDC131		9628581	Standard	NM_144982		Approved	MGC23401, KIAA0546	uc001swo.2	O60293	OTTHUMG00000169545	ENST00000378743.3:c.133_135delAGC	12.37:g.72057265_72057267delGCT	ENSP00000368017:p.Ser45del		OREG0021993	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1134	THAP2_ENST00000308086.2_5'UTR|ZFC3H1_ENST00000552037.1_In_Frame_Del_p.S45del|ZFC3H1_ENST00000548100.1_In_Frame_Del_p.S45del	p.S45del	NM_144982.4	NP_659419.3	O60293	ZC3H1_HUMAN			1	491_493	-			45			Ser-rich.		Q6GMU1|Q6P2S9|Q6ZV36|Q96BE7	In_Frame_Del	DEL	ENST00000378743.3	37	c.133_135delAGC	CCDS41813.1																																																																																				0.631	ZFC3H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404751.1	NM_144982		15	580						15	580	---	---	---	---
CLIP1	6249	broad.mit.edu	37	12	122812690	122812691	+	Frame_Shift_Ins	INS	-	-	T			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr12:122812690_122812691insT	ENST00000540338.1	-	16	3093_3094	c.3052_3053insA	c.(3052-3054)agcfs	p.S1018fs	CLIP1_ENST00000361654.4_Frame_Shift_Ins_p.S896fs|CLIP1_ENST00000302528.7_Frame_Shift_Ins_p.S1007fs|CLIP1_ENST00000545889.1_Frame_Shift_Ins_p.S593fs|CLIP1_ENST00000537178.1_Frame_Shift_Ins_p.S972fs|CLIP1_ENST00000358808.2_Frame_Shift_Ins_p.S1007fs			P30622	CLIP1_HUMAN	CAP-GLY domain containing linker protein 1	1018					microtubule bundle formation (GO:0001578)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|positive regulation of microtubule polymerization (GO:0031116)|transport (GO:0006810)	cell projection (GO:0042995)|centrosome (GO:0005813)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endosome (GO:0005768)|intermediate filament (GO:0005882)|kinetochore (GO:0000776)|membrane (GO:0016020)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)	metal ion binding (GO:0046872)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|nucleic acid binding (GO:0003676)|protein homodimerization activity (GO:0042803)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270)			NS(1)|breast(5)|endometrium(4)|kidney(5)|large_intestine(16)|liver(1)|lung(21)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_neural(191;0.0837)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226)		CTGGTTGTGGCTTGTTTCCATT	0.505																																						ENST00000358808.2																			0				NS(1)|breast(5)|endometrium(4)|kidney(5)|large_intestine(16)|liver(1)|lung(21)|ovary(2)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						c.(3019-3021)ccafs		CAP-GLY domain containing linker protein 1																																				SO:0001589	frameshift_variant	6249				mitotic prometaphase|positive regulation of microtubule polymerization	centrosome|cytosol|endosome|intermediate filament|kinetochore	nucleic acid binding|protein homodimerization activity|zinc ion binding	g.chr12:122812690_122812691insT		CCDS9232.1, CCDS9233.1, CCDS58285.1	12q24.3	2013-01-17	2007-01-05	2007-01-05	ENSG00000130779	ENSG00000130779			10461	protein-coding gene	gene with protein product	"""restin"""	179838	"""restin (Reed-Steinberg cell-expressed intermediate filament-associated protein)"""	RSN		8222754	Standard	NM_001247997		Approved	CYLN1, CLIP170, CLIP, CLIP-170	uc001ucg.2	P30622	OTTHUMG00000168922	ENST00000540338.1:c.3053dupA	12.37:g.122812692_122812692dupT	ENSP00000439093:p.Ser1018fs					CLIP1_ENST00000540338.1_Frame_Shift_Ins_p.P1018fs|CLIP1_ENST00000545889.1_Frame_Shift_Ins_p.P593fs|CLIP1_ENST00000537178.1_Frame_Shift_Ins_p.P972fs|CLIP1_ENST00000361654.4_Frame_Shift_Ins_p.P896fs|CLIP1_ENST00000302528.7_Frame_Shift_Ins_p.P1007fs	p.P1007fs	NM_001247997.1|NM_002956.2	NP_001234926.1|NP_002947.1	P30622	CLIP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;1.81e-05)|Epithelial(86;6.85e-05)|BRCA - Breast invasive adenocarcinoma(302;0.226)	16	3173_3174	-	all_neural(191;0.0837)|Medulloblastoma(191;0.163)		1018					A0AVD3|Q17RS4|Q29RG0	Frame_Shift_Ins	INS	ENST00000540338.1	37	c.3019_3020insA	CCDS58285.1																																																																																				0.505	CLIP1-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000401625.1	NM_002956		20	509						20	509	---	---	---	---
SBNO1	55206	broad.mit.edu	37	12	123794283	123794283	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr12:123794283delT	ENST00000602398.1	-	26	3543	c.3416delA	c.(3415-3417)aatfs	p.N1139fs	SBNO1_ENST00000602750.1_Frame_Shift_Del_p.N1138fs|SBNO1_ENST00000267176.4_Frame_Shift_Del_p.N1138fs|SBNO1_ENST00000420886.2_Frame_Shift_Del_p.N1139fs			A3KN83	SBNO1_HUMAN	strawberry notch homolog 1 (Drosophila)	1139					regulation of transcription, DNA-templated (GO:0006355)			p.N1138fs*9(1)		NS(2)|breast(6)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(11)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(2)	62	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197)		ATATCTTCCATTTTTTTTGGC	0.388																																						ENST00000420886.2																			1	Deletion - Frameshift(1)	p.N1138fs*9(1)	large_intestine(1)	NS(2)|breast(6)|cervix(2)|endometrium(8)|kidney(3)|large_intestine(11)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(2)	62						c.(3415-3417)atfs		strawberry notch homolog 1 (Drosophila)							134.0	131.0	132.0					12																	123794283		2203	4300	6503	SO:0001589	frameshift_variant	55206						ATP binding|DNA binding|hydrolase activity	g.chr12:123794283delT	AK001563	CCDS9246.1, CCDS53844.1	12q24.31	2006-10-06	2006-10-06			ENSG00000139697			22973	protein-coding gene	gene with protein product		614274	"""sno, strawberry notch homolog 1 (Drosophila)"""				Standard	NM_018183		Approved	MOP3, FLJ10701, FLJ10833, Sno	uc010tap.2	A3KN83		ENST00000602398.1:c.3416delA	12.37:g.123794283delT	ENSP00000473665:p.Asn1139fs					SBNO1_ENST00000267176.4_Frame_Shift_Del_p.N1138fs|SBNO1_ENST00000602398.1_Frame_Shift_Del_p.N1139fs|SBNO1_ENST00000602750.1_Frame_Shift_Del_p.N1138fs	p.N1139fs	NM_001167856.1	NP_001161328.1	A3KN83	SBNO1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000701)|Epithelial(86;0.00197)	25	3415	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)		1139					Q05C06|Q3ZTS3|Q9H3T8|Q9NVB2	Frame_Shift_Del	DEL	ENST00000602398.1	37	c.3416delA	CCDS53844.1																																																																																				0.388	SBNO1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000467684.1	NM_018183		8	266						8	266	---	---	---	---
SCFD1	23256	broad.mit.edu	37	14	31112596	31112596	+	Frame_Shift_Del	DEL	T	T	-	rs35121540		TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr14:31112596delT	ENST00000458591.2	+	7	825	c.598delT	c.(598-600)tttfs	p.F201fs	SCFD1_ENST00000396629.2_Frame_Shift_Del_p.F109fs|SCFD1_ENST00000421551.3_Frame_Shift_Del_p.F142fs|SCFD1_ENST00000541123.1_Frame_Shift_Del_p.F16fs|SCFD1_ENST00000544052.2_Frame_Shift_Del_p.F134fs	NM_016106.3	NP_057190.2	Q8WVM8	SCFD1_HUMAN	sec1 family domain containing 1	201				FV -> YG (in Ref. 2; AAD40381 and 4; AAP97146). {ECO:0000305}.|FVTLGA -> YGTRGD (in Ref. 2; AAD48586). {ECO:0000305}.	post-Golgi vesicle-mediated transport (GO:0006892)|protein transport (GO:0015031)|regulation of ER to Golgi vesicle-mediated transport (GO:0060628)|response to hypoxia (GO:0001666)|response to toxic substance (GO:0009636)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|vesicle docking involved in exocytosis (GO:0006904)	cis-Golgi network (GO:0005801)|endoplasmic reticulum (GO:0005783)|Golgi transport complex (GO:0017119)|Golgi-associated vesicle (GO:0005798)|plasma membrane (GO:0005886)	syntaxin binding (GO:0019905)			endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)	13	Hepatocellular(127;0.0877)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)	GBM - Glioblastoma multiforme(265;0.0181)		CCTCTTCTGCTTTTTTGTTAC	0.338																																						ENST00000458591.2																			0				endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)	13						c.(598-600)ttfs		sec1 family domain containing 1							243.0	221.0	229.0					14																	31112596		2203	4300	6503	SO:0001589	frameshift_variant	23256				post-Golgi vesicle-mediated transport|protein transport|regulation of ER to Golgi vesicle-mediated transport|response to toxin|retrograde vesicle-mediated transport, Golgi to ER|vesicle docking involved in exocytosis	cis-Golgi network|endoplasmic reticulum membrane|Golgi cisterna membrane|Golgi-associated vesicle|plasma membrane	syntaxin-5 binding	g.chr14:31112596delT	AF110646	CCDS9639.1, CCDS45092.1, CCDS58308.1	14q12	2006-04-04	2004-01-15	2004-01-16	ENSG00000092108	ENSG00000092108			20726	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 163"""	C14orf163			Standard	NM_016106		Approved	RA410, KIAA0917, STXBP1L2, SLY1	uc001wqm.2	Q8WVM8	OTTHUMG00000029420	ENST00000458591.2:c.598delT	14.37:g.31112596delT	ENSP00000390783:p.Phe201fs					SCFD1_ENST00000396629.2_Frame_Shift_Del_p.F109fs|SCFD1_ENST00000421551.3_Frame_Shift_Del_p.F142fs|SCFD1_ENST00000544052.2_Frame_Shift_Del_p.F134fs|SCFD1_ENST00000541123.1_Frame_Shift_Del_p.F16fs	p.F201fs	NM_016106.3	NP_057190.2	Q8WVM8	SCFD1_HUMAN	LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)	GBM - Glioblastoma multiforme(265;0.0181)	7	825	+	Hepatocellular(127;0.0877)		201	FV -> YG (in Ref. 2; AAD40381 and 4; AAP97146).|FVTLGA -> YGTRGD (in Ref. 2; AAD48586).				A8K2Z5|B7Z4U7|B7Z594|O60754|O94990|Q7Z529|Q9BZI3|Q9UNL3|Q9Y6A8	Frame_Shift_Del	DEL	ENST00000458591.2	37	c.598delT	CCDS9639.1																																																																																				0.338	SCFD1-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276612.3	NM_182835		99	164						99	164	---	---	---	---
CSPG4P5	114817	broad.mit.edu	37	15	84957480	84957499	+	RNA	DEL	GGCCCCACATCCATTGAGAA	GGCCCCACATCCATTGAGAA	-	rs554759799|rs529134831|rs548880213	byFrequency	TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr15:84957480_84957499delGGCCCCACATCCATTGAGAA	ENST00000558801.1	-	0	7230_7249									DNM1 pseudogene 51																		TGTGTGCACTGGCCCCACATCCATTGAGAAGGCCCCACAT	0.586														762	0.152157	0.146	0.3256	5008	,	,		24353	0.1339		0.1481	False		,,,				2504	0.0603					ENST00000558801.1																			0																																																			114817							g.chr15:84957480_84957499delGGCCCCACATCCATTGAGAA			15q25.2	2013-05-16			ENSG00000259297	ENSG00000235370			48500	pseudogene	pseudogene							Standard			Approved				OTTHUMG00000172438		15.37:g.84957480_84957499delGGCCCCACATCCATTGAGAA														0	7230_7249	-									RNA	DEL	ENST00000558801.1	37																																																																																						0.586	DNM1P51-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000471721.1			8	34						8	34	---	---	---	---
MESP2	145873	broad.mit.edu	37	15	90320121	90320144	+	In_Frame_Del	DEL	AGGGGCAGGGGCAAGGGCAGGGGC	AGGGGCAGGGGCAAGGGCAGGGGC	-	rs56192595|rs200021459|rs199821487	byFrequency	TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr15:90320121_90320144delAGGGGCAGGGGCAAGGGCAGGGGC	ENST00000341735.3	+	1	533_556	c.533_556delAGGGGCAGGGGCAAGGGCAGGGGC	c.(532-558)gaggggcaggggcaagggcaggggcag>gag	p.GQGQGQGQ195del	MESP2_ENST00000560219.1_Intron|MESP2_ENST00000558723.1_Intron	NM_001039958.1	NP_001035047.1	Q0VG99	MESP2_HUMAN	mesoderm posterior basic helix-loop-helix transcription factor 2	195	13 X 2 AA tandem repeats of G-Q.				mesodermal cell migration (GO:0008078)|Notch signaling pathway (GO:0007219)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|signal transduction involved in regulation of gene expression (GO:0023019)|somite rostral/caudal axis specification (GO:0032525)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.Q198_G205delQGQGQGQG(1)		kidney(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6	Lung NSC(78;0.0221)|all_lung(78;0.0448)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)			ACGCaggcggaggggcaggggcaagggcaggggcaggggcaggg	0.777														3487	0.696286	0.4168	0.7824	5008	,	,		13432	0.8879		0.7654	False		,,,				2504	0.7444					ENST00000341735.3																			1	Deletion - In frame(1)	p.Q198_G205delQGQGQGQG(1)	upper_aerodigestive_tract(1)	kidney(1)|large_intestine(2)|lung(1)|skin(1)|upper_aerodigestive_tract(1)	6						c.(532-558)gag>g		mesoderm posterior 2 homolog (mouse)				995,777		385,225,276						0.1	0.0		dbSNP_129	3	3389,1453		1404,581,436	no	coding	MESP2	NM_001039958.1		1789,806,712	A1A1,A1R,RR		30.0083,43.8488,33.7164				4384,2230				SO:0001651	inframe_deletion	145873				Notch signaling pathway	nucleus	DNA binding	g.chr15:90320121_90320144delAGGGGCAGGGGCAAGGGCAGGGGC		CCDS42078.1	15q26.1	2014-06-30	2014-06-30			ENSG00000188095		"""Basic helix-loop-helix proteins"""	29659	protein-coding gene	gene with protein product		605195	"""mesoderm posterior 2 homolog (mouse)"""			11578861	Standard	NM_001039958		Approved	SCDO2, bHLHc6	uc002bon.3	Q0VG99		ENST00000341735.3:c.533_556delAGGGGCAGGGGCAAGGGCAGGGGC	15.37:g.90320121_90320144delAGGGGCAGGGGCAAGGGCAGGGGC	ENSP00000342392:p.Gly195_Gln202del					MESP2_ENST00000560219.1_Intron|MESP2_ENST00000558723.1_Intron	p.EGQGQGQGQ178del	NM_001039958.1	NP_001035047.1	Q0VG99	MESP2_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)		1	533_556	+	Lung NSC(78;0.0221)|all_lung(78;0.0448)		178					Q7RTU2	In_Frame_Del	DEL	ENST00000341735.3	37	c.533_556delAGGGGCAGGGGCAAGGGCAGGGGC	CCDS42078.1																																																																																				0.777	MESP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000416421.1	XM_085261		14	10						14	10	---	---	---	---
RP11-473M20.9	0	broad.mit.edu	37	16	3132095	3132095	+	lincRNA	DEL	C	C	-			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr16:3132095delC	ENST00000571404.1	-	0	210																											CACACTCAGTCCCCCTGCCTG	0.607																																						ENST00000571404.1																			0																																																			0							g.chr16:3132095delC																													16.37:g.3132095delC														0	210	-									RNA	DEL	ENST00000571404.1	37																																																																																						0.607	RP11-473M20.9-002	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000437122.1			11	17						11	17	---	---	---	---
NPIPB15	440348	broad.mit.edu	37	16	74425400	74425402	+	In_Frame_Del	DEL	CAA	CAA	-	rs370078939		TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr16:74425400_74425402delCAA	ENST00000429990.1	+	7	850_852	c.754_756delCAA	c.(754-756)caadel	p.Q253del				A6NHN6	NPB15_HUMAN	nuclear pore complex interacting protein family, member B15	253	Pro-rich.					extracellular region (GO:0005576)											TCCTCCAACTCAACAACATTCTA	0.517																																						ENST00000429990.1																			0											c.(754-756)del		nuclear pore complex interacting protein family, member B15																																				SO:0001651	inframe_deletion	440348							g.chr16:74425400_74425402delCAA	BC160029		16q22.3	2013-06-11	2013-06-11	2013-06-11	ENSG00000196436	ENSG00000196436			34409	protein-coding gene	gene with protein product			"""nuclear pore complex interacting protein-like 2"""	NPIPL2			Standard	XM_005256273		Approved	LOC440348	uc010vmt.1	A6NHN6	OTTHUMG00000156916	ENST00000429990.1:c.754_756delCAA	16.37:g.74425403_74425405delCAA	ENSP00000411140:p.Gln253del						p.Q253del							7	850_852	+								C9J9U8	In_Frame_Del	DEL	ENST00000429990.1	37	c.754_756delCAA																																																																																					0.517	NPIPB15-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000346597.2	NM_001018059		10	251						10	251	---	---	---	---
TP53	7157	broad.mit.edu	37	17	7578255	7578255	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr17:7578255delT	ENST00000269305.4	-	6	783	c.594delA	c.(592-594)gaafs	p.E198fs	TP53_ENST00000413465.2_Frame_Shift_Del_p.E198fs|TP53_ENST00000455263.2_Frame_Shift_Del_p.E198fs|TP53_ENST00000359597.4_Frame_Shift_Del_p.E198fs|TP53_ENST00000420246.2_Frame_Shift_Del_p.E198fs|TP53_ENST00000445888.2_Frame_Shift_Del_p.E198fs|TP53_ENST00000574684.1_Intron	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53	198	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		E -> D (in a sporadic cancer; somatic mutation).|E -> G (in sporadic cancers; somatic mutation).|E -> K (in sporadic cancers; somatic mutation).|E -> Q (in sporadic cancers; somatic mutation).|E -> V (in a sporadic cancer; somatic mutation).		apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|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)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.0?(8)|p.?(5)|p.G199fs*48(3)|p.E198_L201>V(1)|p.G67fs*>24(1)|p.E198_G199ins21(1)|p.E198fs*7(1)|p.G106fs*48(1)|p.P191fs*6(1)|p.I195_G199delIRVEG(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	GCAAATTTCCTTCCACTCGGA	0.542		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"""Mis, N, F"""	tumor protein p53			"""L, E, M, O"""		"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""	"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""		23	Whole gene deletion(8)|Deletion - Frameshift(6)|Unknown(6)|Deletion - In frame(1)|Insertion - In frame(1)|Complex - frameshift(1)	p.0?(8)|p.?(5)|p.G199fs*48(3)|p.E198_L201>V(1)|p.G67fs*>24(1)|p.E198_G199ins21(1)|p.E198fs*7(1)|p.G106fs*48(1)|p.P191fs*6(1)|p.I195_G199delIRVEG(1)	upper_aerodigestive_tract(6)|biliary_tract(5)|bone(4)|central_nervous_system(3)|stomach(1)|soft_tissue(1)|haematopoietic_and_lymphoid_tissue(1)|urinary_tract(1)|pancreas(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185						c.(592-594)gafs	Other conserved DNA damage response genes	tumor protein p53							116.0	104.0	108.0					17																	7578255		2203	4300	6503	SO:0001589	frameshift_variant	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578255delT	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.594delA	17.37:g.7578255delT	ENSP00000269305:p.Glu198fs	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_ENST00000455263.2_Frame_Shift_Del_p.E198fs|TP53_ENST00000445888.2_Frame_Shift_Del_p.E198fs|TP53_ENST00000359597.4_Frame_Shift_Del_p.E198fs|TP53_ENST00000574684.1_Intron|TP53_ENST00000413465.2_Frame_Shift_Del_p.E198fs|TP53_ENST00000269305.4_Frame_Shift_Del_p.E198fs	p.E198fs	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	6	726	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	198		E -> D (in a sporadic cancer; somatic mutation).|E -> G (in sporadic cancers; somatic mutation).|E -> K (in sporadic cancers; somatic mutation).|E -> Q (in sporadic cancers; somatic mutation).|E -> V (in a sporadic cancer; somatic mutation).	Interaction with AXIN1 (By similarity).|Interaction with HIPK1 (By similarity).|Required for interaction with FBXO42.		Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Frame_Shift_Del	DEL	ENST00000269305.4	37	c.594delA	CCDS11118.1																																																																																				0.542	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		115	38						115	38	---	---	---	---
LRRC37B	114659	broad.mit.edu	37	17	30376361	30376362	+	Frame_Shift_Ins	INS	-	-	T			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr17:30376361_30376362insT	ENST00000341671.7	+	10	2629_2630	c.2624_2625insT	c.(2623-2628)tatattfs	p.I876fs	LRRC37B_ENST00000327564.7_Frame_Shift_Ins_p.I903fs|LRRC37B_ENST00000584368.1_Frame_Shift_Ins_p.I837fs|LRRC37B_ENST00000394713.3_Frame_Shift_Ins_p.I825fs|LRRC37B_ENST00000543378.2_Frame_Shift_Ins_p.I794fs	NM_052888.2	NP_443120.2	Q96QE4	LR37B_HUMAN	leucine rich repeat containing 37B	876						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)				endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	29		Myeloproliferative disorder(56;0.0255)|all_hematologic(16;0.111)|Ovarian(249;0.182)|Breast(31;0.244)				AAAACAAATTATATTAATGAGA	0.436																																						ENST00000327564.7																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(3)|lung(10)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)	29						c.(2704-2706)tatfs		leucine rich repeat containing 37B																																				SO:0001589	frameshift_variant	114659					integral to membrane		g.chr17:30376361_30376362insT	AJ314647	CCDS32609.1	17q11.2	2006-11-29		2005-08-09	ENSG00000185158	ENSG00000185158			29070	protein-coding gene	gene with protein product	"""KIAA0563-related"""					11468690, 10843809	Standard	NM_052888		Approved		uc002hgu.3	Q96QE4	OTTHUMG00000132785	ENST00000341671.7:c.2625dupT	17.37:g.30376362_30376362dupT	ENSP00000340519:p.Ile876fs					LRRC37B_ENST00000394713.3_Frame_Shift_Ins_p.Y824fs|LRRC37B_ENST00000584368.1_Frame_Shift_Ins_p.Y836fs|LRRC37B_ENST00000543378.2_Frame_Shift_Ins_p.Y793fs|LRRC37B_ENST00000341671.7_Frame_Shift_Ins_p.Y875fs	p.Y902fs			Q96QE4	LR37B_HUMAN			10	2766_2767	+		Myeloproliferative disorder(56;0.0255)|all_hematologic(16;0.111)|Ovarian(249;0.182)|Breast(31;0.244)	875					Q17RC9|Q5YKG6	Frame_Shift_Ins	INS	ENST00000341671.7	37	c.2705_2706insT	CCDS32609.1																																																																																				0.436	LRRC37B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446508.1	NM_052888		27	60						27	60	---	---	---	---
KRTAP9-1	728318	broad.mit.edu	37	17	39346425	39346427	+	In_Frame_Del	DEL	GTG	GTG	-	rs376633756		TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr17:39346425_39346427delGTG	ENST00000398470.1	+	1	287_289	c.287_289delGTG	c.(286-291)tgtggc>tgc	p.G97del	KRTAP9-1_ENST00000318329.5_Splice_Site_p.46_47CG>W|KRTAP9-1_ENST00000377723.3_Intron	NM_001190460.1	NP_001177389.1	A8MXZ3	KRA91_HUMAN	keratin associated protein 9-1	97	30 X 5 AA repeats of C-C-[CGSVRQH]- [SQTNP]-[PTSI].					keratin filament (GO:0045095)				breast(1)|lung(3)	4						TCCAGCTGCTGTGGCCAAACCAG	0.606																																						ENST00000398470.1																			0				breast(1)|lung(3)	4						c.(286-291)tgc>t		keratin associated protein 9-1																																				SO:0001651	inframe_deletion	728318					keratin filament		g.chr17:39346425_39346427delGTG	AC006070	CCDS56029.1	17q21.2	2010-06-03			ENSG00000240542	ENSG00000240542		"""Keratin associated proteins"""	18912	protein-coding gene	gene with protein product			"""keratin associated protein 9-like 3"""	KRTAP9L3			Standard	NM_001190460		Approved	KAP9.1	uc021txf.1	A8MXZ3	OTTHUMG00000133636	ENST00000398470.1:c.287_289delGTG	17.37:g.39346425_39346427delGTG	ENSP00000381488:p.Gly97del					KRTAP9-1_ENST00000377723.3_Intron|KRTAP9-1_ENST00000318329.5_Splice_Site_p.CG46_splice	p.CG96del	NM_001190460.1	NP_001177389.1	A8MXZ3	KRA91_HUMAN			1	287_289	+			96			30 X 5 AA repeats of C-C-[CGSVRQH]- [SQTNP]-[PTSI].			In_Frame_Del	DEL	ENST00000398470.1	37	c.287_289delGTG	CCDS56029.1																																																																																				0.606	KRTAP9-1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257781.1			9	94						9	94	---	---	---	---
SNORA70	26778	broad.mit.edu	37	18	3025533	3025533	+	RNA	DEL	A	A	-			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr18:3025533delA	ENST00000516449.1	-	0	31									small nucleolar RNA, H/ACA box 70																		ACAACTTCTTAAAAAAAAAAt	0.473																																						ENST00000516449.1																			0																																																			26778							g.chr18:3025533delA	Y11164		Xq28	2013-09-05	2006-04-05	2006-04-05	ENSG00000207165	ENSG00000207165		"""ncRNAs / Small nucleolar RNAs : H/ACA box containing"""	10231	non-coding RNA	RNA, small nucleolar			"""RNA, U70 small nucleolar"""	RNU70		9106664, 15199136	Standard	NR_000011		Approved	U70, DXS648E	uc021raw.1				18.37:g.3025533delA														0	31	-									RNA	DEL	ENST00000516449.1	37																																																																																						0.473	SNORA70.21-201	NOVEL	basic	snoRNA	snoRNA		NR_000011		7	135						7	135	---	---	---	---
SEH1L	81929	broad.mit.edu	37	18	12986927	12986929	+	3'UTR	DEL	TCC	TCC	-			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr18:12986927_12986929delTCC	ENST00000262124.11	+	0	2886_2888				SEH1L_ENST00000399892.2_In_Frame_Del_p.P385del|RP11-773H22.4_ENST00000588211.1_RNA	NM_031216.3	NP_112493.2	Q96EE3	SEH1_HUMAN	SEH1-like (S. cerevisiae)						attachment of spindle microtubules to kinetochore involved in mitotic sister chromatid segregation (GO:0051315)|carbohydrate metabolic process (GO:0005975)|cytokine production involved in inflammatory response (GO:0002534)|cytokine-mediated signaling pathway (GO:0019221)|defense response to Gram-positive bacterium (GO:0050830)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic metaphase plate congression (GO:0007080)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|nuclear pore organization (GO:0006999)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|kinetochore (GO:0000776)|nuclear envelope (GO:0005635)|nuclear pore outer ring (GO:0031080)				central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(5)|pancreas(1)|prostate(1)	11						CCCAGCTCCTtcctcctcctcct	0.522																																						ENST00000399892.2																			0				central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(5)|pancreas(1)|prostate(1)	11						c.(1135-1140)ctt>ct		SEH1-like (S. cerevisiae)																																				SO:0001624	3_prime_UTR_variant	81929				attachment of spindle microtubules to kinetochore involved in mitotic sister chromatid segregation|carbohydrate metabolic process|cell division|glucose transport|mitotic metaphase plate congression|mitotic prometaphase|mRNA transport|nuclear pore organization|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	condensed chromosome kinetochore|cytosol|Nup107-160 complex		g.chr18:12986927_12986929delTCC	BC012430	CCDS32791.1, CCDS45832.1	18p11.21	2013-01-10				ENSG00000085415		"""WD repeat domain containing"""	30379	protein-coding gene	gene with protein product	"""sec13 like protein"", ""nucleoporin Seh1"""	609263				12196509, 14517296	Standard	XM_005258152		Approved	SEH1A, SEH1B, Seh1, SEC13L	uc002krq.3	Q96EE3		ENST00000262124.11:c.*1678TCC>-	18.37:g.12986936_12986938delTCC						RP11-773H22.4_ENST00000588211.1_RNA|SEH1L_ENST00000262124.11_3'UTR	p.LP379del	NM_001013437.1	NP_001013455.1	Q96EE3	SEH1_HUMAN			9	1238_1240	+			0					A8K5B1|Q8NFU6|Q96MH3|Q9C069	In_Frame_Del	DEL	ENST00000262124.11	37	c.1137_1139delTCC	CCDS45832.1																																																																																				0.522	SEH1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458254.1	NM_031216		7	264						7	264	---	---	---	---
R3HDM4	91300	broad.mit.edu	37	19	900092	900097	+	In_Frame_Del	DEL	CGCAGA	CGCAGA	-	rs368367301|rs11880031|rs145420343		TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr19:900092_900097delCGCAGA	ENST00000361574.5	-	5	598_603	c.525_530delTCTGCG	c.(523-531)cgtctgcga>cga	p.175_177RLR>R	R3HDM4_ENST00000587975.1_In_Frame_Del_p.154_156RLR>R	NM_138774.3	NP_620129.2	Q96D70	R3HD4_HUMAN	R3H domain containing 4	175	Arg-rich.					nucleus (GO:0005634)	nucleic acid binding (GO:0003676)										GAGGACGGCTCGCAGACGCCGGCTGA	0.65																																						ENST00000361574.5																			0											c.(523-531)cga>cg		R3H domain containing 4																																				SO:0001651	inframe_deletion	91300					nucleus	nucleic acid binding	g.chr19:900092_900097delCGCAGA	BC012775	CCDS12048.1	19p13.3	2011-11-23	2011-11-23	2011-11-23	ENSG00000198858	ENSG00000198858			28270	protein-coding gene	gene with protein product			"""chromosome 19 open reading frame 22"""	C19orf22		12477932	Standard	NM_138774		Approved	MGC16353	uc002lqg.2	Q96D70		ENST00000361574.5:c.525_530delTCTGCG	19.37:g.900092_900097delCGCAGA	ENSP00000355385:p.Arg175_Leu176del					R3HDM4_ENST00000587975.1_In_Frame_Del_p.RLR154del	p.RLR175del	NM_138774.3	NP_620129.2	Q96D70	CS022_HUMAN			5	598_603	-			175			Arg-rich.			In_Frame_Del	DEL	ENST00000361574.5	37	c.525_530delTCTGCG	CCDS12048.1																																																																																				0.650	R3HDM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458209.1	NM_138774		15	192						15	192	---	---	---	---
TNFSF9	8744	broad.mit.edu	37	19	6531149	6531151	+	In_Frame_Del	DEL	GCT	GCT	-	rs564151103	byFrequency	TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr19:6531149_6531151delGCT	ENST00000245817.3	+	1	140_142	c.102_104delGCT	c.(100-105)gggctg>ggg	p.L41del		NM_003811.3	NP_003802.1	P41273	TNFL9_HUMAN	tumor necrosis factor (ligand) superfamily, member 9	41	Poly-Leu.				apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|immune response (GO:0006955)|myeloid dendritic cell differentiation (GO:0043011)|positive regulation of activated T cell proliferation (GO:0042104)|positive regulation of cytotoxic T cell differentiation (GO:0045585)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-6 production (GO:0032755)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)			central_nervous_system(1)|lung(1)|ovary(1)|prostate(1)|skin(1)	5						TGGTCGCGGGgctgctgctgctg	0.768																																						ENST00000245817.3																			0				central_nervous_system(1)|lung(1)|ovary(1)|prostate(1)|skin(1)	5						c.(100-105)ggg>gg		tumor necrosis factor (ligand) superfamily, member 9																																				SO:0001651	inframe_deletion	8744				apoptosis|cell proliferation|cell-cell signaling|immune response|signal transduction	extracellular space|integral to membrane	cytokine activity|tumor necrosis factor receptor binding	g.chr19:6531149_6531151delGCT	U03398	CCDS12169.1	19p13.3	2008-07-22				ENSG00000125657		"""Tumor necrosis factor (ligand) superfamily"""	11939	protein-coding gene	gene with protein product	"""receptor 4-1BB ligand"", ""homolog of mouse 4-1BB-L"""	606182				8405064, 8088337	Standard	NM_003811		Approved	4-1BB-L	uc002mfh.2	P41273		ENST00000245817.3:c.102_104delGCT	19.37:g.6531158_6531160delGCT	ENSP00000245817:p.Leu41del						p.GL34del	NM_003811.3	NP_003802.1	P41273	TNFL9_HUMAN			1	140_142	+			34					Q2M3S2	In_Frame_Del	DEL	ENST00000245817.3	37	c.102_104delGCT	CCDS12169.1																																																																																				0.768	TNFSF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457856.1	NM_003811		7	152						7	152	---	---	---	---
ZNF442	79973	broad.mit.edu	37	19	12461741	12461741	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr19:12461741delA	ENST00000242804.4	-	6	1240	c.658delT	c.(658-660)tggfs	p.W220fs	ZNF442_ENST00000438182.1_Frame_Shift_Del_p.W151fs|CTD-3105H18.13_ENST00000563695.2_lincRNA	NM_030824.2	NP_110451.1	Q9H7R0	ZN442_HUMAN	zinc finger protein 442	220					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	31						AAACTAGGCCAAAAAAAGGCT	0.403																																						ENST00000242804.4																			0				breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	31						c.(658-660)ggfs		zinc finger protein 442							136.0	132.0	134.0					19																	12461741		2203	4300	6503	SO:0001589	frameshift_variant	79973				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:12461741delA	AK024418	CCDS12271.1	19p13.13	2013-01-08			ENSG00000198342	ENSG00000198342		"""Zinc fingers, C2H2-type"", ""-"""	20877	protein-coding gene	gene with protein product							Standard	NM_030824		Approved	FLJ14356	uc002mtr.1	Q9H7R0	OTTHUMG00000156411	ENST00000242804.4:c.658delT	19.37:g.12461741delA	ENSP00000242804:p.Trp220fs					ZNF442_ENST00000438182.1_Frame_Shift_Del_p.W151fs	p.W220fs	NM_030824.2	NP_110451.1	Q9H7R0	ZN442_HUMAN			6	1240	-			220					B4DJ48	Frame_Shift_Del	DEL	ENST00000242804.4	37	c.658delT	CCDS12271.1																																																																																				0.403	ZNF442-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344109.1	NM_030824		7	365						7	365	---	---	---	---
ZNF540	163255	broad.mit.edu	37	19	38102620	38102620	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr19:38102620delA	ENST00000592533.1	+	5	771	c.439delA	c.(439-441)aaafs	p.K148fs	ZNF540_ENST00000316433.4_Frame_Shift_Del_p.K148fs|ZNF540_ENST00000586792.1_3'UTR|ZNF540_ENST00000343599.5_Frame_Shift_Del_p.K148fs|ZNF540_ENST00000589117.1_Frame_Shift_Del_p.K116fs	NM_152606.4	NP_689819.1	Q8NDQ6	ZN540_HUMAN	zinc finger protein 540	148					negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of translation (GO:0017148)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|translation repressor activity, nucleic acid binding (GO:0000900)			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(13)|lung(8)|skin(1)	28			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			AATCGTCTCTAAAAAAATGTC	0.368																																						ENST00000592533.1																			0				breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(13)|lung(8)|skin(1)	28						c.(439-441)aafs		zinc finger protein 540							91.0	98.0	96.0					19																	38102620		2203	4299	6502	SO:0001589	frameshift_variant	163255							g.chr19:38102620delA	AL832315	CCDS12506.1, CCDS54258.1	19q13.13	2013-01-08				ENSG00000171817		"""Zinc fingers, C2H2-type"", ""-"""	25331	protein-coding gene	gene with protein product		613903					Standard	NM_152606		Approved	DKFZp547B0714	uc002ogq.4	Q8NDQ6		ENST00000592533.1:c.439delA	19.37:g.38102620delA	ENSP00000466274:p.Lys148fs					ZNF540_ENST00000316433.4_Frame_Shift_Del_p.K148fs|ZNF540_ENST00000343599.5_Frame_Shift_Del_p.K148fs|ZNF540_ENST00000586792.1_3'UTR|ZNF540_ENST00000589117.1_Frame_Shift_Del_p.K116fs	p.K148fs	NM_152606.4	NP_689819.1			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)		5	771	+								A0AVS5|A8K371|Q05D58|Q3LIC5|Q6ZN36|Q7Z3C8|Q86T31	Frame_Shift_Del	DEL	ENST00000592533.1	37	c.439delA	CCDS12506.1																																																																																				0.368	ZNF540-009	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000459481.1	NM_152606		37	175						37	175	---	---	---	---
LYPD3	27076	broad.mit.edu	37	19	43969653	43969655	+	In_Frame_Del	DEL	AGC	AGC	-	rs141441894	byFrequency	TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr19:43969653_43969655delAGC	ENST00000244333.3	-	1	157_159	c.69_71delGCT	c.(67-72)ctgctt>ctt	p.23_24LL>L		NM_014400.2	NP_055215.2	O95274	LYPD3_HUMAN	LY6/PLAUR domain containing 3	23					cell-matrix adhesion (GO:0007160)|cellular component movement (GO:0006928)	anchored component of plasma membrane (GO:0046658)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)				cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|pancreas(1)|upper_aerodigestive_tract(2)	11		Prostate(69;0.0153)				ACCTCCGCGAAGCAGCAGCAGCA	0.675																																						ENST00000244333.3																			0				cervix(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(1)|pancreas(1)|upper_aerodigestive_tract(2)	11						c.(67-72)ctt>ct		LY6/PLAUR domain containing 3																																				SO:0001651	inframe_deletion	27076					anchored to plasma membrane		g.chr19:43969653_43969655delAGC	AF082889	CCDS12620.1	19q13.31	2008-02-05				ENSG00000124466			24880	protein-coding gene	gene with protein product		609484				11179665, 11245483	Standard	NM_014400		Approved	C4.4A	uc002owl.1	O95274		ENST00000244333.3:c.69_71delGCT	19.37:g.43969662_43969664delAGC	ENSP00000244333:p.Leu24del						p.LL23del	NM_014400.2	NP_055215.2	O95274	LYPD3_HUMAN			1	157_159	-		Prostate(69;0.0153)	23					Q9UJ74	In_Frame_Del	DEL	ENST00000244333.3	37	c.69_71delGCT	CCDS12620.1																																																																																				0.675	LYPD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463177.1	NM_014400		9	481						9	481	---	---	---	---
POLD1	5424	broad.mit.edu	37	19	50921181	50921181	+	Frame_Shift_Del	DEL	C	C	-	rs142223599		TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr19:50921181delC	ENST00000440232.2	+	27	3354	c.3301delC	c.(3301-3303)cccfs	p.P1102fs	SPIB_ENST00000270632.7_5'Flank|SPIB_ENST00000595883.1_5'Flank|SPIB_ENST00000597855.1_5'Flank|SPIB_ENST00000596074.1_5'Flank|CTD-2545M3.6_ENST00000599632.1_Intron|POLD1_ENST00000599857.1_Frame_Shift_Del_p.P1102fs|POLD1_ENST00000595904.1_Frame_Shift_Del_p.P1128fs|SPIB_ENST00000439922.2_5'Flank	NM_001256849.1|NM_002691.3	NP_001243778.1|NP_002682.2	P28340	DPOD1_HUMAN	polymerase (DNA directed), delta 1, catalytic subunit	1102					base-excision repair (GO:0006284)|base-excision repair, gap-filling (GO:0006287)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication proofreading (GO:0045004)|DNA replication, removal of RNA primer (GO:0043137)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA synthesis involved in DNA repair (GO:0000731)|fatty acid homeostasis (GO:0055089)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|regulation of mitotic cell cycle (GO:0007346)|response to UV (GO:0009411)|small molecule metabolic process (GO:0044281)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|delta DNA polymerase complex (GO:0043625)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleotide-excision repair complex (GO:0000109)|nucleus (GO:0005634)	3'-5' exonuclease activity (GO:0008408)|4 iron, 4 sulfur cluster binding (GO:0051539)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)|nucleotide binding (GO:0000166)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(6)|lung(8)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39		all_neural(266;0.0571)		OV - Ovarian serous cystadenocarcinoma(262;0.00794)|GBM - Glioblastoma multiforme(134;0.0195)		GCGCTTCGGACCCCCTGGACC	0.617								DNA polymerases (catalytic subunits)																														ENST00000440232.2																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(8)|kidney(4)|large_intestine(6)|lung(8)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						c.(3301-3303)ccfs	DNA polymerases (catalytic subunits)	polymerase (DNA directed), delta 1, catalytic subunit							28.0	30.0	30.0					19																	50921181		2198	4300	6498	SO:0001589	frameshift_variant	5424				base-excision repair, gap-filling|DNA replication proofreading|DNA replication, removal of RNA primer|DNA synthesis involved in DNA repair|nucleotide-excision repair, DNA gap filling|regulation of mitotic cell cycle|response to UV|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	delta DNA polymerase complex|nucleoplasm|nucleotide-excision repair complex	3'-5'-exodeoxyribonuclease activity|chromatin binding|DNA binding|DNA-directed DNA polymerase activity|metal ion binding|nucleotide binding|protein binding	g.chr19:50921181delC		CCDS12795.1	19q13.3	2014-09-17	2012-05-18		ENSG00000062822	ENSG00000062822		"""DNA polymerases"""	9175	protein-coding gene	gene with protein product	"""CDC2 homolog (S. cerevisiae)"""	174761	"""polymerase (DNA directed), delta 1, catalytic subunit (125kD)"""	POLD		1722322	Standard	NM_001256849		Approved	CDC2	uc002psc.5	P28340		ENST00000440232.2:c.3301delC	19.37:g.50921181delC	ENSP00000406046:p.Pro1102fs					POLD1_ENST00000595904.1_Frame_Shift_Del_p.P1128fs|POLD1_ENST00000599857.1_Frame_Shift_Del_p.P1102fs	p.P1102fs	NM_001256849.1|NM_002691.3	NP_001243778.1|NP_002682.2	P28340	DPOD1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00794)|GBM - Glioblastoma multiforme(134;0.0195)	27	3354	+		all_neural(266;0.0571)	1102					Q8NER3|Q96H98	Frame_Shift_Del	DEL	ENST00000440232.2	37	c.3301delC	CCDS12795.1																																																																																				0.617	POLD1-002	KNOWN	alternative_5_UTR|NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464732.1			13	86						13	86	---	---	---	---
P2RX6P	440799	broad.mit.edu	37	22	21396825	21396825	+	RNA	DEL	A	A	-	rs6005351|rs78468987	byFrequency	TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr22:21396825delA	ENST00000450652.1	+	0	147				P2RX6P_ENST00000439119.1_RNA																							CCCTGTCCCCACGTAAGGCAG	0.537													?|A|-|unsure	1279	0.255391	0.2912	0.2248	5008	,	,		16588	0.3661		0.1064	False		,,,				2504	0.2679					ENST00000450652.1																			0																																																			440799							g.chr22:21396825delA																													22.37:g.21396825delA						P2RX6P_ENST00000439119.1_RNA								0	147	+									RNA	DEL	ENST00000450652.1	37																																																																																						0.537	AC002472.11-001	KNOWN	basic	antisense	antisense	OTTHUMT00000320476.1			2	4						2	4	---	---	---	---
EP300	2033	broad.mit.edu	37	22	41566476	41566478	+	In_Frame_Del	DEL	TCC	TCC	-	rs373752539		TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr22:41566476_41566478delTCC	ENST00000263253.7	+	27	5572_5574	c.4353_4355delTCC	c.(4351-4356)catcct>cat	p.P1453del	RP1-85F18.6_ENST00000415054.1_RNA|RNU6-375P_ENST00000517050.1_RNA	NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN	E1A binding protein p300	1453	CBP/p300-type HAT. {ECO:0000255|PROSITE- ProRule:PRU01065}.				apoptotic process (GO:0006915)|cellular response to hypoxia (GO:0071456)|chromatin organization (GO:0006325)|circadian rhythm (GO:0007623)|G2/M transition of mitotic cell cycle (GO:0000086)|heart development (GO:0007507)|histone H2B acetylation (GO:0043969)|histone H4 acetylation (GO:0043967)|innate immune response (GO:0045087)|internal peptidyl-lysine acetylation (GO:0018393)|internal protein amino acid acetylation (GO:0006475)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|lung development (GO:0030324)|mitotic cell cycle (GO:0000278)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of protein binding (GO:0032092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of type I interferon production (GO:0032481)|regulation of androgen receptor signaling pathway (GO:0060765)|regulation of cell cycle (GO:0051726)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)|regulation of tubulin deacetylation (GO:0090043)|response to estrogen (GO:0043627)|response to hypoxia (GO:0001666)|skeletal muscle tissue development (GO:0007519)|somitogenesis (GO:0001756)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	acetyltransferase activity (GO:0016407)|activating transcription factor binding (GO:0033613)|androgen receptor binding (GO:0050681)|beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine N-acetyltransferase activity, acting on acetyl phosphate as donor (GO:0004468)|nuclear hormone receptor binding (GO:0035257)|pre-mRNA intronic binding (GO:0097157)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transferase activity, transferring acyl groups (GO:0016746)|zinc ion binding (GO:0008270)	p.P1452H(1)|p.P1452L(1)		NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						TCCATTGCCATCCTCCTGACCAG	0.429			"""T,  N, F, Mis, O"""	"""MLL, RUNXBP2"""	"""colorectal, breast, pancreatic, AML, ALL, DLBCL"""				Rubinstein-Taybi syndrome																													ENST00000263253.7				Rec	yes		22	22q13	2033	"""T,  N, F, Mis, O"""	300 kd E1A-Binding protein gene			"""L, E"""	"""MLL, RUNXBP2"""		"""colorectal, breast, pancreatic, AML, ALL, DLBCL"""		2	Substitution - Missense(2)	p.P1452H(1)|p.P1452L(1)	upper_aerodigestive_tract(1)|skin(1)	NS(2)|breast(11)|central_nervous_system(7)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(31)|kidney(5)|large_intestine(31)|liver(2)|lung(33)|ovary(2)|pancreas(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(16)	171						c.(4351-4356)cat>ca		E1A binding protein p300																																				SO:0001651	inframe_deletion	2033	Rubinstein-Taybi syndrome	Familial Cancer Database	Broad Thumb-Hallux syndrome	apoptosis|cell cycle|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|histone H4 acetylation|interspecies interaction between organisms|N-terminal peptidyl-lysine acetylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of androgen receptor signaling pathway|response to estrogen stimulus|response to hypoxia	centrosome|histone acetyltransferase complex	androgen receptor binding|beta-catenin binding|DNA binding|histone acetyltransferase activity|RNA polymerase II activating transcription factor binding|transcription coactivator activity|zinc ion binding	g.chr22:41566476_41566478delTCC	U01877	CCDS14010.1	22q13.2	2011-07-01			ENSG00000100393	ENSG00000100393		"""Chromatin-modifying enzymes / K-acetyltransferases"""	3373	protein-coding gene	gene with protein product	"""histone acetyltransferase p300"""	602700				7523245	Standard	NM_001429		Approved	p300, KAT3B	uc003azl.4	Q09472	OTTHUMG00000150937	ENST00000263253.7:c.4353_4355delTCC	22.37:g.41566479_41566481delTCC	ENSP00000263253:p.Pro1453del					RP1-85F18.6_ENST00000415054.1_RNA	p.HP1451del	NM_001429.3	NP_001420.2	Q09472	EP300_HUMAN			27	5572_5574	+			1451					B1AKC2	In_Frame_Del	DEL	ENST00000263253.7	37	c.4353_4355delTCC	CCDS14010.1																																																																																				0.429	EP300-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320600.1	NM_001429		109	144						109	144	---	---	---	---
TCF20	6942	broad.mit.edu	37	22	42610776	42610778	+	In_Frame_Del	DEL	TGC	TGC	-			TCGA-BB-7870-01A-11D-2229-08	TCGA-BB-7870-10A-01D-2229-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	d584f4ec-09b0-40fe-bba2-256b6cf6974e	201d93ee-887a-4fed-aa95-87ce043c8988	g.chr22:42610776_42610778delTGC	ENST00000359486.3	-	1	670_672	c.534_536delGCA	c.(532-537)cagcaa>caa	p.178_179QQ>Q	TCF20_ENST00000335626.4_In_Frame_Del_p.178_179QQ>Q	NM_005650.1	NP_005641.1	Q9UGU0	TCF20_HUMAN	transcription factor 20 (AR1)	178	Poly-Gln.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5)	66						CTGCTGGACTTGCTGCTGCTGCT	0.571																																						ENST00000359486.3																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(7)|large_intestine(13)|lung(22)|ovary(5)|prostate(1)|skin(2)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(5)	66						c.(532-537)caa>ca		transcription factor 20 (AR1)																																				SO:0001651	inframe_deletion	6942				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|transcription coactivator activity|zinc ion binding	g.chr22:42610776_42610778delTGC	U19345	CCDS14032.1, CCDS14033.1	22q13.3	2011-02-08			ENSG00000100207	ENSG00000100207			11631	protein-coding gene	gene with protein product	"""stromelysin-1 platelet-derived growth factor-responsive element binding protein"""	603107				9730594, 10995766	Standard	NM_005650		Approved	AR1, SPBP	uc003bcj.1	Q9UGU0	OTTHUMG00000150920	ENST00000359486.3:c.534_536delGCA	22.37:g.42610785_42610787delTGC	ENSP00000352463:p.Gln179del					TCF20_ENST00000335626.4_In_Frame_Del_p.QQ178del	p.QQ178del	NM_005650.1	NP_005641.1	Q9UGU0	TCF20_HUMAN			1	670_672	-			178			Poly-Gln.		A9JX12|O14528|Q13078|Q4V353|Q9H4M0	In_Frame_Del	DEL	ENST00000359486.3	37	c.534_536delGCA	CCDS14033.1																																																																																				0.571	TCF20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320531.1	NM_181492		7	263						7	263	---	---	---	---
