#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_filter	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	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
MXRA8	54587	broad.mit.edu	37	1	1290419	1290419	+	Missense_Mutation	SNP	C	C	T			TCGA-34-2608-01A-02D-1522-08	TCGA-34-2608-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3c90209b-b6f6-40b2-a374-6cd37d6d3895	ca1f5f6f-bef8-49af-8bd0-c8beb0c4c53b	g.chr1:1290419C>T	ENST00000309212.6	-	5	622	c.592G>A	c.(592-594)Gtg>Atg	p.V198M	MXRA8_ENST00000445648.2_Missense_Mutation_p.V198M|MXRA8_ENST00000342753.4_Missense_Mutation_p.V97M|MXRA8_ENST00000477278.2_Missense_Mutation_p.V189M	NM_001282582.1|NM_032348.2	NP_001269511.1|NP_115724.1	Q9BRK3	MXRA8_HUMAN	matrix-remodelling associated 8	198	Ig-like V-type 2.				establishment of glial blood-brain barrier (GO:0060857)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)		p.V198M(1)		central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(3)	7	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;2.83e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.77e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)		GCCTCCTCCACGTGCCGGTCG	0.746																																						uc001aew.2																			1	Substitution - Missense(1)		lung(1)		0						c.(592-594)GTG>ATG		matrix-remodelling associated 8 precursor							8.0	9.0	9.0					1																	1290419		2005	3956	5961	SO:0001583	missense	54587					integral to membrane		g.chr1:1290419C>T	BC006213	CCDS24.1, CCDS59950.1, CCDS59951.1, CCDS59952.1	1p36.33	2013-01-11			ENSG00000162576	ENSG00000162576		"""Immunoglobulin superfamily / V-set domain containing"""	7542	protein-coding gene	gene with protein product	"""limitrin"""					14603461	Standard	XM_005244758		Approved	DKFZp586E2023	uc001aew.3	Q9BRK3	OTTHUMG00000002973	ENST00000309212.6:c.592G>A	1.37:g.1290419C>T	ENSP00000307887:p.Val198Met					MXRA8_uc001aex.3_Missense_Mutation_p.V198M|MXRA8_uc001aey.3_Missense_Mutation_p.V198M|MXRA8_uc010nyl.1_Missense_Mutation_p.V198M|MXRA8_uc001aez.2_Missense_Mutation_p.V97M|MXRA8_uc001afa.2_Missense_Mutation_p.V189M	p.V198M	NM_032348	NP_115724	Q9BRK3	MXRA8_HUMAN		Epithelial(90;2.83e-35)|OV - Ovarian serous cystadenocarcinoma(86;3.77e-21)|Colorectal(212;0.000155)|COAD - Colon adenocarcinoma(227;0.000193)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.0025)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.145)	5	623	-	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)	198			Ig-like V-type 2.|Extracellular (Potential).		B3KTR6|B4DE34|Q5TA39|Q96KC3	Missense_Mutation	SNP	ENST00000309212.6	37	c.592G>A	CCDS24.1	.	.	.	.	.	.	.	.	.	.	.	9.375	1.071548	0.20147	.	.	ENSG00000162576	ENST00000309212;ENST00000378864;ENST00000342753;ENST00000445648	T;T;T	0.14266	2.55;2.52;2.55	3.88	-7.76	0.01232	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	2.127580	0.02365	U	0.077247	T	0.04998	0.0134	N	0.14661	0.345	0.09310	N	1	P;P;P;P;P	0.50156	0.881;0.918;0.932;0.856;0.806	B;B;B;B;B	0.35859	0.212;0.197;0.13;0.135;0.212	T	0.39643	-0.9604	10	0.31617	T	0.26	-25.5636	2.433	0.04476	0.334:0.1084:0.4386:0.119	.	189;97;176;198;198	B3KTR6;B4DE34;B4E385;Q9BRK3-2;Q9BRK3	.;.;.;.;MXRA8_HUMAN	M	198;189;97;198	ENSP00000307887:V198M;ENSP00000344998:V97M;ENSP00000399229:V198M	ENSP00000307887:V198M	V	-	1	0	MXRA8	1280282	0.059000	0.20769	0.705000	0.30386	0.438000	0.31896	-0.169000	0.09911	-1.311000	0.02309	0.291000	0.19559	GTG		PASS	0.746	MXRA8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008282.2	NM_032348		3	21	3	21	---	---	---	---
C1orf174	339448	broad.mit.edu	37	1	3806599	3806599	+	Silent	SNP	G	G	A			TCGA-34-2608-01A-02D-1522-08	TCGA-34-2608-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3c90209b-b6f6-40b2-a374-6cd37d6d3895	ca1f5f6f-bef8-49af-8bd0-c8beb0c4c53b	g.chr1:3806599G>A	ENST00000361605.3	-	4	755	c.657C>T	c.(655-657)agC>agT	p.S219S	C1orf174_ENST00000486765.1_5'UTR	NM_207356.2	NP_997239.2	Q8IYL3	CA174_HUMAN	chromosome 1 open reading frame 174	219						nucleus (GO:0005634)		p.S219S(1)		endometrium(1)|large_intestine(5)|lung(4)|prostate(1)	11	all_cancers(77;0.0395)|Ovarian(185;0.0634)|all_lung(157;0.222)|Lung NSC(156;0.227)	all_cancers(23;5.09e-25)|all_epithelial(116;9.35e-17)|all_lung(118;1.09e-06)|Lung NSC(185;0.000139)|all_neural(13;0.00287)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0219)|all_hematologic(16;0.027)|Colorectal(325;0.0276)|Myeloproliferative disorder(586;0.0393)|Lung SC(97;0.0743)|Ovarian(437;0.127)		Epithelial(90;1.55e-39)|OV - Ovarian serous cystadenocarcinoma(86;5.99e-23)|GBM - Glioblastoma multiforme(42;2.22e-17)|Colorectal(212;1.08e-05)|COAD - Colon adenocarcinoma(227;5.49e-05)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(365;0.000365)|KIRC - Kidney renal clear cell carcinoma(229;0.00549)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.19)		ACTCTCGTCTGCTCATTGAAG	0.438																																						uc001alf.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(655-657)AGC>AGT		hypothetical protein LOC339448							157.0	130.0	139.0					1																	3806599		2203	4300	6503	SO:0001819	synonymous_variant	339448							g.chr1:3806599G>A	BC035643	CCDS53.1	1p36.32	2012-07-25			ENSG00000198912	ENSG00000198912			27915	protein-coding gene	gene with protein product						12477932	Standard	NM_207356		Approved	RP13-531C17.2	uc001alf.3	Q8IYL3	OTTHUMG00000003739	ENST00000361605.3:c.657C>T	1.37:g.3806599G>A						C1orf174_uc009vls.2_RNA	p.S219S	NM_207356	NP_997239	Q8IYL3	CA174_HUMAN		Epithelial(90;1.55e-39)|OV - Ovarian serous cystadenocarcinoma(86;5.99e-23)|GBM - Glioblastoma multiforme(42;2.22e-17)|Colorectal(212;1.08e-05)|COAD - Colon adenocarcinoma(227;5.49e-05)|Kidney(185;0.000342)|BRCA - Breast invasive adenocarcinoma(365;0.000365)|KIRC - Kidney renal clear cell carcinoma(229;0.00549)|STAD - Stomach adenocarcinoma(132;0.00644)|Lung(427;0.19)	4	764	-	all_cancers(77;0.0395)|Ovarian(185;0.0634)|all_lung(157;0.222)|Lung NSC(156;0.227)	all_cancers(23;5.09e-25)|all_epithelial(116;9.35e-17)|all_lung(118;1.09e-06)|Lung NSC(185;0.000139)|all_neural(13;0.00287)|Renal(390;0.00357)|Breast(487;0.00446)|Hepatocellular(190;0.0219)|all_hematologic(16;0.027)|Colorectal(325;0.0276)|Myeloproliferative disorder(586;0.0393)|Lung SC(97;0.0743)|Ovarian(437;0.127)	219					A8K0C8|A8MUG9|Q5SR20|Q6NX36	Silent	SNP	ENST00000361605.3	37	c.657C>T	CCDS53.1																																																																																				PASS	0.438	C1orf174-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010539.1	NM_207356		17	107	17	107	---	---	---	---
NPHP4	261734	broad.mit.edu	37	1	6007263	6007263	+	Missense_Mutation	SNP	T	T	A			TCGA-34-2608-01A-02D-1522-08	TCGA-34-2608-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3c90209b-b6f6-40b2-a374-6cd37d6d3895	ca1f5f6f-bef8-49af-8bd0-c8beb0c4c53b	g.chr1:6007263T>A	ENST00000378156.4	-	9	1285	c.1020A>T	c.(1018-1020)agA>agT	p.R340S	NPHP4_ENST00000478423.2_5'UTR	NM_015102.3	NP_055917.1	O75161	NPHP4_HUMAN	nephronophthisis 4	340					actin cytoskeleton organization (GO:0030036)|hippo signaling (GO:0035329)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|retina development in camera-type eye (GO:0060041)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|visual behavior (GO:0007632)	cell-cell junction (GO:0005911)|centrosome (GO:0005813)|cytosol (GO:0005829)|membrane (GO:0016020)|nonmotile primary cilium (GO:0031513)|tight junction (GO:0005923)	structural molecule activity (GO:0005198)	p.R340S(1)		NS(1)|breast(2)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(4)	47	Ovarian(185;0.0634)	all_cancers(23;7.53e-41)|all_epithelial(116;3.96e-23)|all_lung(118;5.12e-09)|all_hematologic(16;5.45e-07)|Lung NSC(185;5.49e-07)|all_neural(13;3.21e-06)|Acute lymphoblastic leukemia(12;3.44e-05)|Breast(487;0.000601)|Renal(390;0.0007)|Colorectal(325;0.00113)|Hepatocellular(190;0.00213)|Glioma(11;0.00223)|Myeloproliferative disorder(586;0.0256)|Ovarian(437;0.04)|Lung SC(97;0.128)|Medulloblastoma(700;0.213)		Epithelial(90;1.69e-36)|GBM - Glioblastoma multiforme(13;5.07e-29)|OV - Ovarian serous cystadenocarcinoma(86;1.05e-19)|Colorectal(212;4.54e-07)|COAD - Colon adenocarcinoma(227;3.14e-05)|Kidney(185;0.00012)|BRCA - Breast invasive adenocarcinoma(365;0.00102)|KIRC - Kidney renal clear cell carcinoma(229;0.00179)|STAD - Stomach adenocarcinoma(132;0.00472)|READ - Rectum adenocarcinoma(331;0.0649)		GGAGGCGGCTTCTCAAAACCA	0.597																																						uc001alq.1																			1	Substitution - Missense(1)		lung(1)	pancreas(1)	1						c.(1018-1020)AGA>AGT		nephroretinin							58.0	62.0	61.0					1																	6007263		2005	4146	6151	SO:0001583	missense	261734				actin cytoskeleton organization|cell-cell adhesion|signal transduction|visual behavior	cell-cell junction|centrosome|cilium|microtubule basal body	protein binding|structural molecule activity	g.chr1:6007263T>A	AB014573	CCDS44052.1	1p36	2010-03-26			ENSG00000131697	ENSG00000131697			19104	protein-coding gene	gene with protein product	"""nephroretinin"", ""nephrocystin-4"", ""POC10 centriolar protein homolog (Chlamydomonas)"""	607215				11920287, 12205563	Standard	XR_244787		Approved	SLSN4, KIAA0673, POC10	uc001alq.2	O75161	OTTHUMG00000000701	ENST00000378156.4:c.1020A>T	1.37:g.6007263T>A	ENSP00000367398:p.Arg340Ser					NPHP4_uc001als.1_RNA|NPHP4_uc009vlt.1_RNA|NPHP4_uc001alt.1_RNA	p.R340S	NM_015102	NP_055917	O75161	NPHP4_HUMAN		Epithelial(90;1.69e-36)|GBM - Glioblastoma multiforme(13;5.07e-29)|OV - Ovarian serous cystadenocarcinoma(86;1.05e-19)|Colorectal(212;4.54e-07)|COAD - Colon adenocarcinoma(227;3.14e-05)|Kidney(185;0.00012)|BRCA - Breast invasive adenocarcinoma(365;0.00102)|KIRC - Kidney renal clear cell carcinoma(229;0.00179)|STAD - Stomach adenocarcinoma(132;0.00472)|READ - Rectum adenocarcinoma(331;0.0649)	9	1286	-	Ovarian(185;0.0634)	all_cancers(23;7.53e-41)|all_epithelial(116;3.96e-23)|all_lung(118;5.12e-09)|all_hematologic(16;5.45e-07)|Lung NSC(185;5.49e-07)|all_neural(13;3.21e-06)|Acute lymphoblastic leukemia(12;3.44e-05)|Breast(487;0.000601)|Renal(390;0.0007)|Colorectal(325;0.00113)|Hepatocellular(190;0.00213)|Glioma(11;0.00223)|Myeloproliferative disorder(586;0.0256)|Ovarian(437;0.04)|Lung SC(97;0.128)|Medulloblastoma(700;0.213)	340					Q8IWC0	Missense_Mutation	SNP	ENST00000378156.4	37	c.1020A>T	CCDS44052.1	.	.	.	.	.	.	.	.	.	.	T	21.8	4.204194	0.79127	.	.	ENSG00000131697	ENST00000378156	D	0.89196	-2.48	5.39	3.04	0.35103	.	0.000000	0.64402	D	0.000004	D	0.91143	0.7211	M	0.71581	2.175	0.41853	D	0.990184	D	0.69078	0.997	P	0.61132	0.884	D	0.88967	0.3398	10	0.66056	D	0.02	.	6.3215	0.21221	0.0:0.214:0.0:0.786	.	340	O75161	NPHP4_HUMAN	S	340	ENSP00000367398:R340S	ENSP00000367398:R340S	R	-	3	2	NPHP4	5929850	0.998000	0.40836	1.000000	0.80357	0.912000	0.54170	0.166000	0.16583	0.347000	0.23924	0.460000	0.39030	AGA		PASS	0.597	NPHP4-001	KNOWN	non_canonical_polymorphism|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001715.2			12	93	12	93	---	---	---	---
KIF1B	23095	broad.mit.edu	37	1	10434995	10434995	+	Missense_Mutation	SNP	G	G	T			TCGA-34-2608-01A-02D-1522-08	TCGA-34-2608-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3c90209b-b6f6-40b2-a374-6cd37d6d3895	ca1f5f6f-bef8-49af-8bd0-c8beb0c4c53b	g.chr1:10434995G>T	ENST00000377086.1	+	47	5382	c.5180G>T	c.(5179-5181)cGg>cTg	p.R1727L	KIF1B_ENST00000377081.1_Missense_Mutation_p.R1727L|KIF1B_ENST00000263934.6_Missense_Mutation_p.R1681L			O60333	KIF1B_HUMAN	kinesin family member 1B	1727	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				anterograde axon cargo transport (GO:0008089)|apoptotic process (GO:0006915)|cytoskeleton-dependent intracellular transport (GO:0030705)|microtubule-based movement (GO:0007018)|mitochondrion transport along microtubule (GO:0047497)|neuromuscular synaptic transmission (GO:0007274)|neuron-neuron synaptic transmission (GO:0007270)|vesicle-mediated transport (GO:0016192)	cytoplasmic vesicle (GO:0031410)|cytoplasmic vesicle membrane (GO:0030659)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|kinesin binding (GO:0019894)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)	p.R1681L(1)		breast(2)|endometrium(7)|kidney(8)|large_intestine(9)|lung(29)|ovary(3)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(2)	71	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642)		GTCGTCCGTCGGCCTTATGTC	0.463																																						uc001aqx.3																			1	Substitution - Missense(1)		lung(1)	ovary(2)|upper_aerodigestive_tract(1)	3						c.(5179-5181)CGG>CTG		kinesin family member 1B isoform b							134.0	117.0	123.0					1																	10434995		2203	4300	6503	SO:0001583	missense	23095				anterograde axon cargo transport|apoptosis|neuromuscular synaptic transmission|neuron-neuron synaptic transmission	cytoplasmic vesicle membrane|microtubule|microtubule associated complex|mitochondrion	ATP binding|ATPase activity|kinesin binding|microtubule motor activity|protein binding	g.chr1:10434995G>T	AF257176	CCDS111.1, CCDS112.1	1p36.22	2014-09-17			ENSG00000054523	ENSG00000054523		"""Kinesins"", ""Pleckstrin homology (PH) domain containing"""	16636	protein-coding gene	gene with protein product		605995		CMT2A, CMT2		11389829, 10762626	Standard	NM_015074		Approved	KIAA0591, KLP, HMSNII	uc001aqw.4	O60333	OTTHUMG00000001817	ENST00000377086.1:c.5180G>T	1.37:g.10434995G>T	ENSP00000366290:p.Arg1727Leu					KIF1B_uc001aqw.3_Missense_Mutation_p.R1681L|KIF1B_uc001aqy.2_Missense_Mutation_p.R1701L|KIF1B_uc001aqz.2_Missense_Mutation_p.R1727L|KIF1B_uc001ara.2_Missense_Mutation_p.R1687L|KIF1B_uc001arb.2_Missense_Mutation_p.R1713L	p.R1727L	NM_015074	NP_055889	O60333	KIF1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642)	47	5382	+	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)	1727			PH.		A6NFS8|A6NKQ4|Q4VXC3|Q4VXC4|Q4VXC5|Q4VXC6|Q96Q94|Q9BV80|Q9P280	Missense_Mutation	SNP	ENST00000377086.1	37	c.5180G>T		.	.	.	.	.	.	.	.	.	.	G	34	5.369730	0.95900	.	.	ENSG00000054523	ENST00000355249;ENST00000263934;ENST00000377086;ENST00000377081	T;T;T	0.12774	2.65;2.65;2.65	5.47	5.47	0.80525	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.000000	0.85682	D	0.000000	T	0.42787	0.1218	M	0.80746	2.51	0.80722	D	1	D;D;D;D;D;D	0.89917	1.0;1.0;1.0;0.998;1.0;0.992	D;D;D;D;D;D	0.97110	1.0;0.999;0.999;0.999;0.999;0.969	T	0.29822	-0.9999	10	0.51188	T	0.08	.	19.3674	0.94469	0.0:0.0:1.0:0.0	.	1713;1687;1727;1701;1727;1681	Q4R9M9;Q4R9M7;Q4VXC4;Q4R9M8;O60333;O60333-2	.;.;.;.;KIF1B_HUMAN;.	L	1727;1681;1727;1727	ENSP00000263934:R1681L;ENSP00000366290:R1727L;ENSP00000366284:R1727L	ENSP00000263934:R1681L	R	+	2	0	KIF1B	10357582	1.000000	0.71417	1.000000	0.80357	0.901000	0.52897	9.864000	0.99589	2.567000	0.86603	0.650000	0.86243	CGG		PASS	0.463	KIF1B-001	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000005102.1			13	172	13	172	---	---	---	---
CEP85	64793	broad.mit.edu	37	1	26595018	26595018	+	Silent	SNP	C	C	T			TCGA-34-2608-01A-02D-1522-08	TCGA-34-2608-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3c90209b-b6f6-40b2-a374-6cd37d6d3895	ca1f5f6f-bef8-49af-8bd0-c8beb0c4c53b	g.chr1:26595018C>T	ENST00000252992.4	+	8	1517	c.1386C>T	c.(1384-1386)tgC>tgT	p.C462C	CEP85_ENST00000451429.2_Silent_p.C411C	NM_001281517.1|NM_022778.2	NP_001268446.1|NP_073615.2	Q6P2H3	CEP85_HUMAN	centrosomal protein 85kDa	462						centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleolus (GO:0005730)|spindle pole (GO:0000922)		p.C462C(1)		breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(11)|skin(2)	25						AAAAGAAATGCCAGAAGGAAT	0.468																																						uc001bls.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(1384-1386)TGC>TGT		coiled-coil domain containing 21							65.0	63.0	64.0					1																	26595018		2203	4300	6503	SO:0001819	synonymous_variant	64793					centrosome|nucleolus|spindle pole		g.chr1:26595018C>T	AK024038	CCDS277.1, CCDS60038.1	1p36.11	2014-02-20	2011-05-06	2011-05-06	ENSG00000130695	ENSG00000130695			25309	protein-coding gene	gene with protein product			"""coiled-coil domain containing 21"""	CCDC21		12477932	Standard	NM_022778		Approved	DKFZP434L0117	uc001bls.1	Q6P2H3	OTTHUMG00000003380	ENST00000252992.4:c.1386C>T	1.37:g.26595018C>T						CCDC21_uc001blr.2_Silent_p.C462C|CCDC21_uc010ofa.1_Silent_p.C411C|CCDC21_uc001blt.1_5'Flank	p.C462C	NM_022778	NP_073615	Q6P2H3	CEP85_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0178)|OV - Ovarian serous cystadenocarcinoma(117;2.6e-26)|Colorectal(126;1.65e-08)|COAD - Colon adenocarcinoma(152;9.48e-07)|KIRC - Kidney renal clear cell carcinoma(1967;0.000794)|BRCA - Breast invasive adenocarcinoma(304;0.00105)|STAD - Stomach adenocarcinoma(196;0.00155)|GBM - Glioblastoma multiforme(114;0.00917)|READ - Rectum adenocarcinoma(331;0.0649)	8	1517	+		all_cancers(24;7e-19)|Colorectal(325;0.000147)|all_lung(284;0.00122)|Lung NSC(340;0.00128)|Renal(390;0.00211)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0589)|all_neural(195;0.0966)	462			Potential.		B4DRL1|D3DPK4|F8W7K4|Q5VY68|Q5VY70|Q9H6Q1|Q9H828|Q9UF52	Silent	SNP	ENST00000252992.4	37	c.1386C>T	CCDS277.1	.	.	.	.	.	.	.	.	.	.	C	9.442	1.088213	0.20390	.	.	ENSG00000130695	ENST00000453146	.	.	.	4.65	-0.356	0.12583	.	.	.	.	.	T	0.57110	0.2031	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.51228	-0.8732	4	.	.	.	-0.3122	9.8907	0.41288	0.0:0.4808:0.0:0.5191	.	.	.	.	V	136	.	.	A	+	2	0	CEP85	26467605	1.000000	0.71417	0.997000	0.53966	0.996000	0.88848	1.035000	0.30216	-0.143000	0.11334	-0.238000	0.12139	GCC		PASS	0.468	CEP85-002	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009492.2	NM_022778		4	78	4	78	---	---	---	---
GRIK3	2899	broad.mit.edu	37	1	37271748	37271748	+	Silent	SNP	C	C	A			TCGA-34-2608-01A-02D-1522-08	TCGA-34-2608-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3c90209b-b6f6-40b2-a374-6cd37d6d3895	ca1f5f6f-bef8-49af-8bd0-c8beb0c4c53b	g.chr1:37271748C>A	ENST00000373091.3	-	14	2287	c.2271G>T	c.(2269-2271)ggG>ggT	p.G757G	GRIK3_ENST00000373093.4_Silent_p.G757G	NM_000831.3	NP_000822.2	Q13003	GRIK3_HUMAN	glutamate receptor, ionotropic, kainate 3	757					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	axon (GO:0030424)|cell junction (GO:0030054)|dendrite (GO:0030425)|dendrite cytoplasm (GO:0032839)|integral component of plasma membrane (GO:0005887)|kainate selective glutamate receptor complex (GO:0032983)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	adenylate cyclase inhibiting G-protein coupled glutamate receptor activity (GO:0001640)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate receptor activity (GO:0008066)|ionotropic glutamate receptor activity (GO:0004970)|kainate selective glutamate receptor activity (GO:0015277)	p.G757G(2)		breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	89		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)				CAATGAGGCCCCCGATCTGGG	0.662																																						uc001caz.2																			2	Substitution - coding silent(2)		lung(2)	ovary(3)|skin(2)|large_intestine(1)|breast(1)	7						c.(2269-2271)GGG>GGT		glutamate receptor, ionotropic, kainate 3	L-Glutamic Acid(DB00142)						179.0	124.0	143.0					1																	37271748		2203	4300	6503	SO:0001819	synonymous_variant	2899				negative regulation of synaptic transmission, glutamatergic|regulation of membrane potential|synaptic transmission	cell junction|dendrite cytoplasm|integral to plasma membrane|perikaryon|postsynaptic membrane|terminal button	adenylate cyclase inhibiting metabotropic glutamate receptor activity|extracellular-glutamate-gated ion channel activity|G-protein-coupled receptor binding|kainate selective glutamate receptor activity	g.chr1:37271748C>A	U16127	CCDS416.1	1p34.3	2012-08-29			ENSG00000163873	ENSG00000163873		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4581	protein-coding gene	gene with protein product		138243				8128318	Standard	NM_000831		Approved	GluK3, GLUR7	uc001caz.2	Q13003	OTTHUMG00000004189	ENST00000373091.3:c.2271G>T	1.37:g.37271748C>A						GRIK3_uc001cba.1_Silent_p.G757G	p.G757G	NM_000831	NP_000822	Q13003	GRIK3_HUMAN			14	2406	-		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)	757			Extracellular (Potential).		A9Z1Z8|B1AMS6|Q13004|Q16136	Silent	SNP	ENST00000373091.3	37	c.2271G>T	CCDS416.1																																																																																				PASS	0.662	GRIK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012053.1	NM_000831		8	100	8	100	---	---	---	---
SYDE2	84144	broad.mit.edu	37	1	85648044	85648044	+	Missense_Mutation	SNP	G	G	A			TCGA-34-2608-01A-02D-1522-08	TCGA-34-2608-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3c90209b-b6f6-40b2-a374-6cd37d6d3895	ca1f5f6f-bef8-49af-8bd0-c8beb0c4c53b	g.chr1:85648044G>A	ENST00000341460.5	-	3	2330	c.2281C>T	c.(2281-2283)Cat>Tat	p.H761Y		NM_032184.1	NP_115560.1	Q5VT97	SYDE2_HUMAN	synapse defective 1, Rho GTPase, homolog 2 (C. elegans)	761	C2.				activation of Rho GTPase activity (GO:0032862)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	Rho GTPase activator activity (GO:0005100)	p.H761Y(1)|p.H683Y(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)	20				all cancers(265;0.0126)|Epithelial(280;0.0336)		ACAGTTCCATGACAACAAACT	0.373																																						uc009wcm.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)|central_nervous_system(1)	2						c.(2281-2283)CAT>TAT		synapse defective 1, Rho GTPase, homolog 2							77.0	68.0	71.0					1																	85648044		1864	4101	5965	SO:0001583	missense	84144				activation of Rho GTPase activity|small GTPase mediated signal transduction	cytosol	Rho GTPase activator activity	g.chr1:85648044G>A	AL834286	CCDS44169.1	1p22.3	2008-02-05		2005-08-09	ENSG00000097096	ENSG00000097096			25841	protein-coding gene	gene with protein product							Standard	NM_032184		Approved	FLJ13815	uc009wcm.3	Q5VT97	OTTHUMG00000009956	ENST00000341460.5:c.2281C>T	1.37:g.85648044G>A	ENSP00000340594:p.His761Tyr					SYDE2_uc001dku.3_Missense_Mutation_p.H761Y	p.H761Y	NM_032184	NP_115560	Q5VT97	SYDE2_HUMAN		all cancers(265;0.0126)|Epithelial(280;0.0336)	3	2330	-			761			C2.		Q5VT96|Q8NDB8|Q9H8A6	Missense_Mutation	SNP	ENST00000341460.5	37	c.2281C>T	CCDS44169.1	.	.	.	.	.	.	.	.	.	.	G	19.37	3.815382	0.70912	.	.	ENSG00000097096	ENST00000341460	T	0.09350	2.99	5.84	5.84	0.93424	C2 calcium-dependent membrane targeting (1);C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	T	0.14787	0.0357	L	0.40543	1.245	0.80722	D	1	B;D	0.52996	0.409;0.957	B;P	0.55785	0.172;0.784	T	0.00573	-1.1664	10	0.54805	T	0.06	.	20.1457	0.98076	0.0:0.0:1.0:0.0	.	761;761	Q5VT97;Q5VT97-2	SYDE2_HUMAN;.	Y	761	ENSP00000340594:H761Y	ENSP00000340594:H761Y	H	-	1	0	SYDE2	85420632	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.292000	0.96076	2.764000	0.94973	0.650000	0.86243	CAT		PASS	0.373	SYDE2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127989.2			5	87	5	87	---	---	---	---
AMY2B	280	broad.mit.edu	37	1	104114878	104114878	+	Splice_Site	SNP	G	G	T			TCGA-34-2608-01A-02D-1522-08	TCGA-34-2608-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3c90209b-b6f6-40b2-a374-6cd37d6d3895	ca1f5f6f-bef8-49af-8bd0-c8beb0c4c53b	g.chr1:104114878G>T	ENST00000361355.4	+	4	931	c.315G>T	c.(313-315)ggG>ggT	p.G105G	AMY2B_ENST00000491397.1_3'UTR	NM_020978.3	NP_066188.1	P19961	AMY2B_HUMAN	amylase, alpha 2B (pancreatic)	105					carbohydrate metabolic process (GO:0005975)|digestion (GO:0007586)	extracellular vesicular exosome (GO:0070062)	alpha-amylase activity (GO:0004556)|metal ion binding (GO:0046872)	p.G105G(1)		breast(1)|endometrium(7)|kidney(4)|large_intestine(1)|lung(30)|prostate(1)|skin(1)|urinary_tract(1)	46		all_epithelial(167;3.05e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000451)		Colorectal(144;0.0669)|all cancers(265;0.083)|Epithelial(280;0.094)|Lung(183;0.112)		ACAATGTTGGGGTAAGTGAAT	0.333																																						uc001duq.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(313-315)GGG>GGT		amylase, pancreatic, alpha-2B precursor							128.0	131.0	130.0					1																	104114878		2203	4300	6503	SO:0001630	splice_region_variant	280				carbohydrate metabolic process|digestion	extracellular region	alpha-amylase activity|metal ion binding	g.chr1:104114878G>T	M24895	CCDS782.1	1p21	2010-08-02	2006-04-27		ENSG00000240038	ENSG00000240038	3.2.1.1		478	protein-coding gene	gene with protein product		104660	"""amylase, alpha 2B; pancreatic"""	AMY2		8268204	Standard	NM_020978		Approved		uc001duq.3	P19961	OTTHUMG00000011024	ENST00000361355.4:c.315+1G>T	1.37:g.104114878G>T						AMY2B_uc010ouo.1_RNA|LOC648740_uc001dur.2_Silent_p.G105G	p.G105G	NM_020978	NP_066188	P19961	AMY2B_HUMAN		Colorectal(144;0.0669)|all cancers(265;0.083)|Epithelial(280;0.094)|Lung(183;0.112)	4	931	+		all_epithelial(167;3.05e-05)|all_lung(203;0.000199)|Lung NSC(277;0.000451)	105					B3KTI1|B3KXB7|D3DT76|Q9UBH3	Silent	SNP	ENST00000361355.4	37	c.315G>T	CCDS782.1																																																																																				PASS	0.333	AMY2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030318.1	NM_020978	Silent	23	228	23	228	---	---	---	---
FNDC7	163479	broad.mit.edu	37	1	109265069	109265069	+	Silent	SNP	C	C	T			TCGA-34-2608-01A-02D-1522-08	TCGA-34-2608-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3c90209b-b6f6-40b2-a374-6cd37d6d3895	ca1f5f6f-bef8-49af-8bd0-c8beb0c4c53b	g.chr1:109265069C>T	ENST00000370017.3	+	5	988	c.711C>T	c.(709-711)agC>agT	p.S237S	FNDC7_ENST00000271311.2_Silent_p.S238S	NM_001144937.1	NP_001138409.1	Q5VTL7	FNDC7_HUMAN	fibronectin type III domain containing 7	237	Fibronectin type-III 3. {ECO:0000255|PROSITE-ProRule:PRU00316}.					extracellular region (GO:0005576)		p.S237S(1)|p.S4S(1)		breast(1)|endometrium(1)|kidney(3)|large_intestine(2)|lung(6)|ovary(1)|skin(4)|stomach(1)|urinary_tract(1)	20		all_lung(203;0.00439)|Lung NSC(277;0.00683)|all_epithelial(167;0.00728)		Colorectal(144;0.0314)|Lung(183;0.0924)|COAD - Colon adenocarcinoma(174;0.119)|Epithelial(280;0.173)|all cancers(265;0.244)		TGGCTTTGAGCGACTCTTCAG	0.458																																						uc001dvx.2																			2	Substitution - coding silent(2)		lung(2)	ovary(1)|skin(1)	2						c.(709-711)AGC>AGT		fibronectin type III domain containing 7							101.0	94.0	96.0					1																	109265069		2203	4300	6503	SO:0001819	synonymous_variant	163479					extracellular region		g.chr1:109265069C>T		CCDS44185.1	1p13.3	2013-02-11			ENSG00000143107	ENSG00000143107		"""Fibronectin type III domain containing"""	26668	protein-coding gene	gene with protein product						12477932	Standard	NM_001144937		Approved	FLJ35838	uc001dvx.3	Q5VTL7	OTTHUMG00000011120	ENST00000370017.3:c.711C>T	1.37:g.109265069C>T						FNDC7_uc010ova.1_Silent_p.S4S	p.S237S	NM_001144937	NP_001138409	Q5VTL7	FNDC7_HUMAN		Colorectal(144;0.0314)|Lung(183;0.0924)|COAD - Colon adenocarcinoma(174;0.119)|Epithelial(280;0.173)|all cancers(265;0.244)	5	711	+		all_lung(203;0.00439)|Lung NSC(277;0.00683)|all_epithelial(167;0.00728)	238			Fibronectin type-III 3.		A1L468|E9PAZ5|Q6PF16|Q8NA51	Silent	SNP	ENST00000370017.3	37	c.711C>T	CCDS44185.1	.	.	.	.	.	.	.	.	.	.	T	9.937	1.216557	0.22373	.	.	ENSG00000143107	ENST00000445274	.	.	.	5.78	-0.984	0.10259	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-7.4427	6.3014	0.21115	0.1075:0.3123:0.0:0.5801	.	.	.	.	X	13	.	.	R	+	1	2	FNDC7	109066592	0.303000	0.24463	0.116000	0.21606	0.940000	0.58332	-0.452000	0.06787	-0.374000	0.07967	-0.556000	0.04195	CGA		PASS	0.458	FNDC7-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030589.4	NM_173532		14	94	14	94	---	---	---	---
TCHHL1	126637	broad.mit.edu	37	1	152057765	152057765	+	Missense_Mutation	SNP	G	G	A			TCGA-34-2608-01A-02D-1522-08	TCGA-34-2608-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3c90209b-b6f6-40b2-a374-6cd37d6d3895	ca1f5f6f-bef8-49af-8bd0-c8beb0c4c53b	g.chr1:152057765G>A	ENST00000368806.1	-	3	2457	c.2393C>T	c.(2392-2394)tCc>tTc	p.S798F		NM_001008536.1	NP_001008536.1	Q5QJ38	TCHL1_HUMAN	trichohyalin-like 1	798							calcium ion binding (GO:0005509)	p.S798F(1)		breast(4)|endometrium(1)|kidney(2)|large_intestine(9)|lung(33)|ovary(2)|prostate(1)|skin(7)|stomach(1)	60	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.246)			TAGTGGACTGGAATAGACTGC	0.488																																						uc001ezo.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(2392-2394)TCC>TTC		trichohyalin-like 1							229.0	210.0	216.0					1																	152057765		2203	4300	6503	SO:0001583	missense	126637						calcium ion binding	g.chr1:152057765G>A		CCDS30857.1	1q21.3	2011-10-11	2004-10-05	2006-01-27	ENSG00000182898	ENSG00000182898		"""S100 calcium binding proteins"""	31796	protein-coding gene	gene with protein product			"""S100 calcium binding protein A17"""	S100A17, THHL1			Standard	NM_001008536		Approved		uc001ezo.1	Q5QJ38	OTTHUMG00000013058	ENST00000368806.1:c.2393C>T	1.37:g.152057765G>A	ENSP00000357796:p.Ser798Phe						p.S798F	NM_001008536	NP_001008536	Q5QJ38	TCHL1_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.246)		3	2458	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		798					B2RPK8|Q5VTJ9	Missense_Mutation	SNP	ENST00000368806.1	37	c.2393C>T	CCDS30857.1	.	.	.	.	.	.	.	.	.	.	.	14.42	2.529677	0.44969	.	.	ENSG00000182898	ENST00000368806	T	0.42513	0.97	4.89	2.99	0.34606	.	1.365110	0.05179	N	0.501054	T	0.19485	0.0468	L	0.53249	1.67	0.09310	N	1	B	0.29301	0.241	B	0.23852	0.049	T	0.35549	-0.9784	10	0.72032	D	0.01	-0.8043	6.7354	0.23407	0.0978:0.1793:0.7228:0.0	.	798	Q5QJ38	TCHL1_HUMAN	F	798	ENSP00000357796:S798F	ENSP00000357796:S798F	S	-	2	0	TCHHL1	150324389	0.080000	0.21391	0.000000	0.03702	0.001000	0.01503	3.765000	0.55272	0.473000	0.27368	-0.878000	0.02970	TCC		PASS	0.488	TCHHL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000036638.2	XM_060104		55	299	55	299	---	---	---	---
HRNR	388697	broad.mit.edu	37	1	152187673	152187673	+	Silent	SNP	A	A	G			TCGA-34-2608-01A-02D-1522-08	TCGA-34-2608-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3c90209b-b6f6-40b2-a374-6cd37d6d3895	ca1f5f6f-bef8-49af-8bd0-c8beb0c4c53b	g.chr1:152187673A>G	ENST00000368801.2	-	3	6507	c.6432T>C	c.(6430-6432)tcT>tcC	p.S2144S	FLG-AS1_ENST00000593011.1_RNA|FLG-AS1_ENST00000420707.1_RNA	NM_001009931.1	NP_001009931.1	Q86YZ3	HORN_HUMAN	hornerin	2144					establishment of skin barrier (GO:0061436)|hematopoietic progenitor cell differentiation (GO:0002244)|keratinization (GO:0031424)	cornified envelope (GO:0001533)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)	p.S2144S(1)		autonomic_ganglia(1)|breast(6)|central_nervous_system(2)|cervix(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|liver(1)|lung(84)|ovary(5)|prostate(6)|skin(12)|stomach(9)|upper_aerodigestive_tract(5)|urinary_tract(6)	192	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GTTCACCCCTAGATGACTGTC	0.582																																						uc001ezt.1																			1	Substitution - coding silent(1)		lung(1)	skin(2)|ovary(1)	3						c.(6430-6432)TCT>TCC		hornerin							204.0	234.0	224.0					1																	152187673		2197	4276	6473	SO:0001819	synonymous_variant	388697				keratinization		calcium ion binding|protein binding	g.chr1:152187673A>G	AB104446	CCDS30859.1	1q21.3	2013-01-10			ENSG00000197915	ENSG00000197915		"""EF-hand domain containing"""	20846	protein-coding gene	gene with protein product	"""filaggrin family member 3"""						Standard	NM_001009931		Approved	S100a18, S100A16, FLG3	uc001ezt.2	Q86YZ3	OTTHUMG00000012243	ENST00000368801.2:c.6432T>C	1.37:g.152187673A>G							p.S2144S	NM_001009931	NP_001009931	Q86YZ3	HORN_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	6508	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		2144					Q5DT20|Q5U1F4	Silent	SNP	ENST00000368801.2	37	c.6432T>C	CCDS30859.1																																																																																				PASS	0.582	HRNR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034016.1	XM_373868		9	747	9	747	---	---	---	---
IQGAP3	128239	broad.mit.edu	37	1	156497786	156497786	+	Missense_Mutation	SNP	C	C	A			TCGA-34-2608-01A-02D-1522-08	TCGA-34-2608-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3c90209b-b6f6-40b2-a374-6cd37d6d3895	ca1f5f6f-bef8-49af-8bd0-c8beb0c4c53b	g.chr1:156497786C>A	ENST00000361170.2	-	37	4750	c.4740G>T	c.(4738-4740)aaG>aaT	p.K1580N	snoU13_ENST00000458777.1_RNA	NM_178229.4	NP_839943.2	Q86VI3	IQGA3_HUMAN	IQ motif containing GTPase activating protein 3	1580					activation of MAPK activity (GO:0000187)|cellular response to organic substance (GO:0071310)|ERK1 and ERK2 cascade (GO:0070371)|G1/S transition of mitotic cell cycle (GO:0000082)|negative regulation of gene expression (GO:0010629)|positive regulation of gene expression (GO:0010628)|positive regulation of mammary gland epithelial cell proliferation (GO:0033601)|Ras protein signal transduction (GO:0007265)|regulation of cell size (GO:0008361)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|lateral plasma membrane (GO:0016328)	Ras GTPase activator activity (GO:0005099)	p.K1580N(1)		NS(1)|breast(2)|central_nervous_system(1)|endometrium(8)|kidney(2)|large_intestine(14)|lung(29)|ovary(5)|prostate(5)|skin(5)|urinary_tract(3)	75	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					CACCCAGGAACTTGGCATTTA	0.517																																						uc001fpf.2																			1	Substitution - Missense(1)		lung(1)	ovary(5)|skin(1)	6						c.(4738-4740)AAG>AAT		IQ motif containing GTPase activating protein 3							189.0	168.0	175.0					1																	156497786		2203	4300	6503	SO:0001583	missense	128239				small GTPase mediated signal transduction	intracellular	calmodulin binding|Ras GTPase activator activity	g.chr1:156497786C>A	AY253300	CCDS1144.1	1q21.3	2008-02-05			ENSG00000183856	ENSG00000183856			20669	protein-coding gene	gene with protein product							Standard	NM_178229		Approved		uc001fpf.3	Q86VI3	OTTHUMG00000033114	ENST00000361170.2:c.4740G>T	1.37:g.156497786C>A	ENSP00000354451:p.Lys1580Asn						p.K1580N	NM_178229	NP_839943	Q86VI3	IQGA3_HUMAN			37	4815	-	all_hematologic(923;0.088)|Hepatocellular(266;0.158)		1580					Q5T3H8	Missense_Mutation	SNP	ENST00000361170.2	37	c.4740G>T	CCDS1144.1	.	.	.	.	.	.	.	.	.	.	C	18.22	3.576355	0.65878	.	.	ENSG00000183856	ENST00000361170	T	0.03004	4.08	4.71	2.8	0.32819	.	0.131610	0.50627	D	0.000110	T	0.05731	0.0150	M	0.84948	2.725	0.41296	D	0.987012	D	0.61697	0.99	P	0.51550	0.673	T	0.04693	-1.0933	10	0.87932	D	0	-14.6058	7.8351	0.29365	0.0:0.7365:0.0:0.2635	.	1580	Q86VI3	IQGA3_HUMAN	N	1580	ENSP00000354451:K1580N	ENSP00000354451:K1580N	K	-	3	2	IQGAP3	154764410	0.556000	0.26538	1.000000	0.80357	0.997000	0.91878	0.049000	0.14099	1.112000	0.41740	0.484000	0.47621	AAG		PASS	0.517	IQGAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080657.1	NM_178229		10	102	10	102	---	---	---	---
PEAR1	375033	broad.mit.edu	37	1	156875138	156875138	+	Missense_Mutation	SNP	C	C	A			TCGA-34-2608-01A-02D-1522-08	TCGA-34-2608-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3c90209b-b6f6-40b2-a374-6cd37d6d3895	ca1f5f6f-bef8-49af-8bd0-c8beb0c4c53b	g.chr1:156875138C>A	ENST00000338302.3	+	5	454	c.229C>A	c.(229-231)Cgt>Agt	p.R77S	PEAR1_ENST00000292357.7_Missense_Mutation_p.R77S			Q5VY43	PEAR1_HUMAN	platelet endothelial aggregation receptor 1	77	EMI. {ECO:0000255|PROSITE- ProRule:PRU00384}.				recognition of apoptotic cell (GO:0043654)	integral component of membrane (GO:0016021)|phagocytic cup (GO:0001891)		p.R77S(1)		breast(1)|central_nervous_system(2)|endometrium(4)|large_intestine(6)|lung(22)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)	43	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					GACCGTGTACCGTCAGGTGGT	0.657																																						uc001fqj.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(229-231)CGT>AGT		platelet endothelial aggregation receptor 1							65.0	58.0	61.0					1																	156875138		2203	4300	6503	SO:0001583	missense	375033					integral to membrane		g.chr1:156875138C>A	AK098809	CCDS30892.1	1q23.1	2008-02-05	2007-10-25	2007-10-25	ENSG00000187800	ENSG00000187800			33631	protein-coding gene	gene with protein product		610278	"""multiple EGF-like-domains 12"""	MEGF12		15851471	Standard	NM_001080471		Approved	JEDI, FLJ00193	uc001fqj.1	Q5VY43	OTTHUMG00000041293	ENST00000338302.3:c.229C>A	1.37:g.156875138C>A	ENSP00000344465:p.Arg77Ser					PEAR1_uc009wsl.1_5'Flank|PEAR1_uc001fqk.1_5'Flank	p.R77S	NM_001080471	NP_001073940	Q5VY43	PEAR1_HUMAN			4	345	+	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)		77			EMI.		Q8TEK2	Missense_Mutation	SNP	ENST00000338302.3	37	c.229C>A	CCDS30892.1	.	.	.	.	.	.	.	.	.	.	C	15.33	2.800404	0.50315	.	.	ENSG00000187800	ENST00000338302;ENST00000455314;ENST00000292357	D;T;D	0.90385	-2.66;0.58;-2.66	3.92	3.92	0.45320	EMI domain (1);	0.180201	0.27035	N	0.021250	D	0.87724	0.6249	L	0.36672	1.1	0.46317	D	0.998981	D	0.67145	0.996	P	0.55112	0.769	D	0.88716	0.3226	10	0.54805	T	0.06	.	13.4913	0.61397	0.0:1.0:0.0:0.0	.	77	Q5VY43	PEAR1_HUMAN	S	77	ENSP00000344465:R77S;ENSP00000389742:R77S;ENSP00000292357:R77S	ENSP00000292357:R77S	R	+	1	0	PEAR1	155141762	1.000000	0.71417	0.997000	0.53966	0.904000	0.53231	1.860000	0.39428	2.015000	0.59207	0.655000	0.94253	CGT		PASS	0.657	PEAR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098937.2	NM_001080471		5	38	5	38	---	---	---	---
F5	2153	broad.mit.edu	37	1	169541473	169541473	+	Missense_Mutation	SNP	C	C	G			TCGA-34-2608-01A-02D-1522-08	TCGA-34-2608-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3c90209b-b6f6-40b2-a374-6cd37d6d3895	ca1f5f6f-bef8-49af-8bd0-c8beb0c4c53b	g.chr1:169541473C>G	ENST00000367797.3	-	3	560	c.359G>C	c.(358-360)aGt>aCt	p.S120T	F5_ENST00000546081.1_5'UTR|F5_ENST00000367796.3_Missense_Mutation_p.S120T	NM_000130.4	NP_000121	P12259	FA5_HUMAN	coagulation factor V (proaccelerin, labile factor)	120	F5/8 type A 1.|Plastocyanin-like 1.				blood circulation (GO:0008015)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)|vesicle (GO:0031982)	copper ion binding (GO:0005507)	p.S120T(1)		NS(1)|breast(4)|central_nervous_system(4)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(55)|ovary(3)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(7)|urinary_tract(1)	128	all_hematologic(923;0.208)				ART-123(DB05777)|Drotrecogin alfa(DB00055)	TGATAATTTACTGTACCTAAT	0.333																																						uc001ggg.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)|large_intestine(1)|central_nervous_system(1)|skin(1)	6						c.(358-360)AGT>ACT		coagulation factor V precursor	Drotrecogin alfa(DB00055)						55.0	57.0	57.0					1																	169541473		2202	4300	6502	SO:0001583	missense	2153				cell adhesion|platelet activation|platelet degranulation	plasma membrane|platelet alpha granule lumen	copper ion binding|oxidoreductase activity	g.chr1:169541473C>G	M14335	CCDS1281.1	1q23	2012-10-02			ENSG00000198734	ENSG00000198734			3542	protein-coding gene	gene with protein product		612309					Standard	NM_000130		Approved		uc001ggg.1	P12259	OTTHUMG00000034595	ENST00000367797.3:c.359G>C	1.37:g.169541473C>G	ENSP00000356771:p.Ser120Thr					F5_uc010plr.1_RNA	p.S120T	NM_000130	NP_000121	P12259	FA5_HUMAN			3	504	-	all_hematologic(923;0.208)		120			F5/8 type A 1.|Plastocyanin-like 1.		A8K6E8|Q14285|Q2EHR5|Q5R346|Q5R347|Q6UPU6|Q8WWQ6	Missense_Mutation	SNP	ENST00000367797.3	37	c.359G>C	CCDS1281.1	.	.	.	.	.	.	.	.	.	.	C	12.61	1.988876	0.35131	.	.	ENSG00000198734	ENST00000367797;ENST00000367796	D;D	0.99470	-5.96;-5.96	5.59	4.49	0.54785	Cupredoxin (2);Multicopper oxidase, type 3 (1);	0.273612	0.40908	D	0.000997	D	0.97993	0.9339	L	0.27975	0.815	0.80722	D	1	D	0.61080	0.989	P	0.62298	0.9	D	0.96963	0.9703	10	0.08599	T	0.76	-18.2418	12.6319	0.56663	0.0:0.9063:0.0:0.0937	.	120	P12259	FA5_HUMAN	T	120	ENSP00000356771:S120T;ENSP00000356770:S120T	ENSP00000356770:S120T	S	-	2	0	F5	167808097	0.030000	0.19436	0.998000	0.56505	0.916000	0.54674	-0.019000	0.12546	2.622000	0.88805	0.563000	0.77884	AGT		PASS	0.333	F5-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000083712.1	NM_000130		8	67	8	67	---	---	---	---
TOR1AIP1	26092	broad.mit.edu	37	1	179858470	179858470	+	Missense_Mutation	SNP	G	G	C	rs146164995	byFrequency	TCGA-34-2608-01A-02D-1522-08	TCGA-34-2608-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3c90209b-b6f6-40b2-a374-6cd37d6d3895	ca1f5f6f-bef8-49af-8bd0-c8beb0c4c53b	g.chr1:179858470G>C	ENST00000606911.2	+	3	767	c.576G>C	c.(574-576)agG>agC	p.R192S	TOR1AIP1_ENST00000435319.4_Missense_Mutation_p.R71S|TOR1AIP1_ENST00000271583.3_Missense_Mutation_p.R193S|TOR1AIP1_ENST00000474875.1_3'UTR|TOR1AIP1_ENST00000528443.2_Missense_Mutation_p.R193S			Q5JTV8	TOIP1_HUMAN	torsin A interacting protein 1	192					positive regulation of ATPase activity (GO:0032781)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)	ATPase activator activity (GO:0001671)|ATPase binding (GO:0051117)|cytoskeletal protein binding (GO:0008092)	p.R192S(1)		breast(4)|central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(4)|ovary(2)|skin(1)|urinary_tract(1)	18						TTGTAATCAGGTTACGTCGAC	0.308																																						uc001gnq.2																			1	Substitution - Missense(1)		lung(1)	breast(1)|central_nervous_system(1)	2						c.(574-576)AGG>AGC		lamina-associated polypeptide 1B							133.0	133.0	133.0					1																	179858470		2203	4299	6502	SO:0001583	missense	26092					integral to membrane|nuclear inner membrane		g.chr1:179858470G>C		CCDS1335.1, CCDS65737.1	1q24.2	2008-02-05			ENSG00000143337	ENSG00000143337			29456	protein-coding gene	gene with protein product	"""lamina associated polypeptide 1B"""	614512				12061773, 15767459	Standard	NM_015602		Approved	LAP1B, FLJ13142	uc001gnp.2	Q5JTV8	OTTHUMG00000035257	ENST00000606911.2:c.576G>C	1.37:g.179858470G>C	ENSP00000476687:p.Arg192Ser					TOR1AIP1_uc001gnp.1_Missense_Mutation_p.R193S	p.R192S	NM_015602	NP_056417	Q5JTV8	TOIP1_HUMAN			3	794	+			192			Nuclear (Potential).		A8K630|B0QZ57|Q5JTV6|Q8IZ65|Q9H8Y6|Q9HAJ1|Q9NV52|Q9Y3X5	Missense_Mutation	SNP	ENST00000606911.2	37	c.576G>C	CCDS1335.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	0.467|0.467	-0.886356|-0.886356	0.02511|0.02511	.|.	.|.	ENSG00000143337|ENSG00000143337	ENST00000528443;ENST00000325993;ENST00000271583;ENST00000435319|ENST00000527391	T;T;T|.	0.24350|.	1.86;1.86;1.86|.	5.26|5.26	3.37|3.37	0.38596|0.38596	.|.	0.799771|.	0.11534|.	N|.	0.554424|.	T|T	0.07503|0.07503	0.0189|0.0189	N|N	0.00436|0.00436	-1.5|-1.5	0.09310|0.09310	N|N	1|1	B;B|.	0.02656|.	0.0;0.0|.	B;B|.	0.04013|.	0.0;0.001|.	T|T	0.29579|0.29579	-1.0007|-1.0007	9|5	.|.	.|.	.|.	-0.1607|-0.1607	6.9484|6.9484	0.24532|0.24532	0.0:0.729:0.1783:0.0927|0.0:0.729:0.1783:0.0927	.|.	192;193|.	Q5JTV8;E9PKD1|.	TOIP1_HUMAN;.|.	S|L	193;192;193;192|69	ENSP00000435365:R193S;ENSP00000271583:R193S;ENSP00000393292:R192S|.	.|.	R|V	+|+	3|1	2|0	TOR1AIP1|TOR1AIP1	178125093|178125093	0.006000|0.006000	0.16342|0.16342	0.167000|0.167000	0.22817|0.22817	0.157000|0.157000	0.22087|0.22087	0.380000|0.380000	0.20602|0.20602	1.345000|1.345000	0.45676|0.45676	-0.234000|-0.234000	0.12200|0.12200	AGG|GTT		PASS	0.308	TOR1AIP1-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000100313.4	NM_015602		6	253	6	253	---	---	---	---
ATP2B4	493	broad.mit.edu	37	1	203691776	203691776	+	Missense_Mutation	SNP	A	A	G			TCGA-34-2608-01A-02D-1522-08	TCGA-34-2608-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3c90209b-b6f6-40b2-a374-6cd37d6d3895	ca1f5f6f-bef8-49af-8bd0-c8beb0c4c53b	g.chr1:203691776A>G	ENST00000357681.5	+	18	4106	c.2983A>G	c.(2983-2985)Att>Gtt	p.I995V	ATP2B4_ENST00000367219.3_Missense_Mutation_p.I983V|ATP2B4_ENST00000391954.2_Missense_Mutation_p.I995V|ATP2B4_ENST00000341360.2_Missense_Mutation_p.I995V|ATP2B4_ENST00000367218.3_Missense_Mutation_p.I995V	NM_001684.4	NP_001675.3	P23634	AT2B4_HUMAN	ATPase, Ca++ transporting, plasma membrane 4	995					blood coagulation (GO:0007596)|calcium ion homeostasis (GO:0055074)|calcium ion import across plasma membrane (GO:0098703)|calcium ion transmembrane transport (GO:0070588)|cellular calcium ion homeostasis (GO:0006874)|cellular response to epinephrine stimulus (GO:0071872)|ion transmembrane transport (GO:0034220)|negative regulation of adrenergic receptor signaling pathway involved in heart process (GO:1901205)|negative regulation of arginine catabolic process (GO:1900082)|negative regulation of calcineurin-NFAT signaling cascade (GO:0070885)|negative regulation of cardiac muscle hypertrophy in response to stress (GO:1903243)|negative regulation of citrulline biosynthetic process (GO:1903249)|negative regulation of nitric oxide biosynthetic process (GO:0045019)|negative regulation of nitric oxide mediated signal transduction (GO:0010751)|negative regulation of nitric-oxide synthase activity (GO:0051001)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of the force of heart contraction (GO:0098736)|positive regulation of cAMP-dependent protein kinase activity (GO:2000481)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of sodium ion transmembrane transport (GO:1902305)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to hydrostatic pressure (GO:0051599)|transmembrane transport (GO:0055085)	caveola (GO:0005901)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|calmodulin binding (GO:0005516)|metal ion binding (GO:0046872)|nitric-oxide synthase binding (GO:0050998)|protein phosphatase 2B binding (GO:0030346)|scaffold protein binding (GO:0097110)	p.I995V(2)		NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(20)|ovary(2)|prostate(6)|skin(1)|stomach(1)|urinary_tract(3)	56	all_cancers(21;0.071)|all_epithelial(62;0.228)		BRCA - Breast invasive adenocarcinoma(75;0.109)			CTACCGCAACATTATCTTCTG	0.463																																						uc001gzw.2																			2	Substitution - Missense(2)		lung(2)	ovary(2)|skin(1)	3						c.(2983-2985)ATT>GTT		plasma membrane calcium ATPase 4 isoform 4b							130.0	110.0	117.0					1																	203691776		2203	4300	6503	SO:0001583	missense	493				ATP biosynthetic process|platelet activation	integral to plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding	g.chr1:203691776A>G	M25874	CCDS1440.1, CCDS30977.1	1q32.1	2010-04-20	2005-05-26		ENSG00000058668	ENSG00000058668	3.6.3.8	"""ATPases / P-type"""	817	protein-coding gene	gene with protein product	"""plasma membrane calcium-transporting ATPase 4"""	108732	"""matrix-remodelling associated 1"""	ATP2B2, MXRA1		1674727	Standard	NM_001001396		Approved	PMCA4	uc001gzw.3	P23634	OTTHUMG00000035906	ENST00000357681.5:c.2983A>G	1.37:g.203691776A>G	ENSP00000350310:p.Ile995Val					ATP2B4_uc001gzv.2_Missense_Mutation_p.I995V|ATP2B4_uc009xaq.2_Missense_Mutation_p.I995V|ATP2B4_uc001gzx.2_Missense_Mutation_p.I26V|ATP2B4_uc009xar.2_Missense_Mutation_p.I26V	p.I995V	NM_001684	NP_001675	P23634	AT2B4_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.109)		18	3867	+	all_cancers(21;0.071)|all_epithelial(62;0.228)		995			Helical; (Potential).		B1APW5|B1APW6|Q13450|Q13452|Q13455|Q16817|Q7Z3S1	Missense_Mutation	SNP	ENST00000357681.5	37	c.2983A>G	CCDS1440.1	.	.	.	.	.	.	.	.	.	.	A	12.95	2.092752	0.36952	.	.	ENSG00000058668	ENST00000357681;ENST00000367218;ENST00000367219;ENST00000391954;ENST00000341360	D;D;D;D;D	0.95724	-3.79;-3.79;-3.79;-3.79;-3.79	5.1	-2.58	0.06228	ATPase, P-type cation-transporter, C-terminal (1);ATPase, P-type,  transmembrane domain (1);	0.978739	0.08348	N	0.959779	D	0.86381	0.5919	N	0.04260	-0.245	0.23653	N	0.997192	B;B;B	0.13594	0.004;0.001;0.008	B;B;B	0.17433	0.006;0.018;0.006	T	0.74182	-0.3748	10	0.21540	T	0.41	-5.8513	10.203	0.43097	0.4678:0.3247:0.2074:0.0	.	995;995;995	P23634;P23634-6;B1APW5	AT2B4_HUMAN;.;.	V	995;995;983;995;995	ENSP00000350310:I995V;ENSP00000356187:I995V;ENSP00000356188:I983V;ENSP00000375816:I995V;ENSP00000340930:I995V	ENSP00000340930:I995V	I	+	1	0	ATP2B4	201958399	0.062000	0.20869	0.972000	0.41901	0.906000	0.53458	0.142000	0.16096	-0.415000	0.07484	-1.236000	0.01555	ATT		PASS	0.463	ATP2B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087462.1	NM_001001396		19	123	19	123	---	---	---	---
PCNXL2	80003	broad.mit.edu	37	1	233137365	233137365	+	Missense_Mutation	SNP	C	C	A			TCGA-34-2608-01A-02D-1522-08	TCGA-34-2608-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3c90209b-b6f6-40b2-a374-6cd37d6d3895	ca1f5f6f-bef8-49af-8bd0-c8beb0c4c53b	g.chr1:233137365C>A	ENST00000258229.9	-	29	5249	c.5015G>T	c.(5014-5016)cGt>cTt	p.R1672L	PCNXL2_ENST00000344698.2_Missense_Mutation_p.R324L	NM_014801.3	NP_055616.3	A6NKB5	PCX2_HUMAN	pecanex-like 2 (Drosophila)	1672						integral component of membrane (GO:0016021)		p.R1672L(1)		NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86		all_cancers(173;0.0347)|Prostate(94;0.137)				CCACTCGTCACGTGCTGTTAT	0.418																																						uc001hvl.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)|pancreas(1)	2						c.(5014-5016)CGT>CTT		pecanex-like 2							60.0	56.0	57.0					1																	233137365		1901	4127	6028	SO:0001583	missense	80003					integral to membrane		g.chr1:233137365C>A	AK055374	CCDS44335.1	1q42.2	2008-02-05	2001-11-28		ENSG00000135749	ENSG00000135749			8736	protein-coding gene	gene with protein product			"""pecanex (Drosophila)-like 2"""			12477932	Standard	NM_014801		Approved	KIAA0435, FLJ11383	uc001hvl.2	A6NKB5	OTTHUMG00000037824	ENST00000258229.9:c.5015G>T	1.37:g.233137365C>A	ENSP00000258229:p.Arg1672Leu					PCNXL2_uc001hvk.1_Missense_Mutation_p.R324L|PCNXL2_uc001hvm.1_RNA	p.R1672L	NM_014801	NP_055616	A6NKB5	PCX2_HUMAN			29	5250	-		all_cancers(173;0.0347)|Prostate(94;0.137)	1672					O43162|Q5T9Z8|Q5TDF1|Q8TEP4|Q96HP9|Q9HAL8	Missense_Mutation	SNP	ENST00000258229.9	37	c.5015G>T	CCDS44335.1	.	.	.	.	.	.	.	.	.	.	C	18.59	3.655982	0.67586	.	.	ENSG00000135749	ENST00000344698;ENST00000258229	T;T	0.48522	0.81;0.81	5.12	0.86	0.19042	.	0.110302	0.64402	D	0.000016	T	0.64283	0.2584	M	0.85630	2.765	0.09310	N	0.999999	D;D	0.63046	0.992;0.98	D;P	0.69142	0.962;0.715	T	0.55451	-0.8139	10	0.87932	D	0	.	6.3202	0.21213	0.0:0.5285:0.2401:0.2314	.	1672;324	A6NKB5;A6NKB5-3	PCX2_HUMAN;.	L	324;1672	ENSP00000340759:R324L;ENSP00000258229:R1672L	ENSP00000258229:R1672L	R	-	2	0	PCNXL2	231203988	0.180000	0.23148	0.001000	0.08648	0.967000	0.64934	0.959000	0.29240	-0.026000	0.13895	0.655000	0.94253	CGT		PASS	0.418	PCNXL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092480.3	NM_014801		3	17	3	17	---	---	---	---
RYR2	6262	broad.mit.edu	37	1	237666632	237666632	+	Missense_Mutation	SNP	C	C	T			TCGA-34-2608-01A-02D-1522-08	TCGA-34-2608-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3c90209b-b6f6-40b2-a374-6cd37d6d3895	ca1f5f6f-bef8-49af-8bd0-c8beb0c4c53b	g.chr1:237666632C>T	ENST00000366574.2	+	22	2757	c.2440C>T	c.(2440-2442)Ctt>Ttt	p.L814F	RYR2_ENST00000542537.1_Missense_Mutation_p.L798F|RYR2_ENST00000360064.6_Missense_Mutation_p.L812F	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	814					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)	p.L812F(1)		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)			ATTCAAATTTCTTCCTCCACC	0.413																																						uc001hyl.1																			1	Substitution - Missense(1)		lung(1)	ovary(17)|large_intestine(6)|central_nervous_system(6)|pancreas(3)|breast(1)	33						c.(2440-2442)CTT>TTT		cardiac muscle ryanodine receptor							76.0	74.0	75.0					1																	237666632		1906	4121	6027	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.chr1:237666632C>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.2440C>T	1.37:g.237666632C>T	ENSP00000355533:p.Leu814Phe						p.L814F	NM_001035	NP_001026	Q92736	RYR2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00606)		22	2560	+	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	814			Cytoplasmic (By similarity).		Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	c.2440C>T	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.268976	0.80469	.	.	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537	T;T;T	0.61980	0.06;0.06;0.06	5.73	5.73	0.89815	.	0.000000	0.56097	D	0.000040	T	0.74989	0.3789	M	0.74881	2.28	0.80722	D	1	D	0.76494	0.999	D	0.66716	0.946	T	0.69870	-0.5028	10	0.18276	T	0.48	.	13.4674	0.61263	0.0:0.9285:0.0:0.0715	.	814	Q92736	RYR2_HUMAN	F	814;812;798	ENSP00000355533:L814F;ENSP00000353174:L812F;ENSP00000443798:L798F	ENSP00000353174:L812F	L	+	1	0	RYR2	235733255	1.000000	0.71417	0.994000	0.49952	0.968000	0.65278	3.199000	0.51043	2.861000	0.98227	0.655000	0.94253	CTT		PASS	0.413	RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035		5	49	5	49	---	---	---	---
OR2M4	26245	broad.mit.edu	37	1	248402321	248402321	+	Missense_Mutation	SNP	G	G	T			TCGA-34-2608-01A-02D-1522-08	TCGA-34-2608-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3c90209b-b6f6-40b2-a374-6cd37d6d3895	ca1f5f6f-bef8-49af-8bd0-c8beb0c4c53b	g.chr1:248402321G>T	ENST00000306687.1	+	1	91	c.91G>T	c.(91-93)Gtc>Ttc	p.V31F		NM_017504.1	NP_059974.1	Q96R27	OR2M4_HUMAN	olfactory receptor, family 2, subfamily M, member 4	31					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)	p.V31F(1)		NS(1)|breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(27)|skin(3)|upper_aerodigestive_tract(2)	50	all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0245)			TTTTTCTCTGGTCCTGGGCAT	0.473																																						uc010pzh.1																			1	Substitution - Missense(1)		lung(1)	breast(2)	2						c.(91-93)GTC>TTC		olfactory receptor, family 2, subfamily M,							142.0	143.0	143.0					1																	248402321		2203	4300	6503	SO:0001583	missense	26245				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:248402321G>T	X64992	CCDS31108.1	1q44	2012-08-09			ENSG00000171180	ENSG00000171180		"""GPCR / Class A : Olfactory receptors"""	8270	protein-coding gene	gene with protein product						1370859, 9119360	Standard	NM_017504		Approved	HTPCRX18, TPCR100, HSHTPCRX18, OST710	uc010pzh.2	Q96R27	OTTHUMG00000040456	ENST00000306687.1:c.91G>T	1.37:g.248402321G>T	ENSP00000306688:p.Val31Phe						p.V31F	NM_017504	NP_059974	Q96R27	OR2M4_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0245)		1	91	+	all_cancers(71;0.000124)|all_epithelial(71;1.03e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		31			Helical; Name=1; (Potential).		Q15611|Q8NG82	Missense_Mutation	SNP	ENST00000306687.1	37	c.91G>T	CCDS31108.1	.	.	.	.	.	.	.	.	.	.	g	11.97	1.796353	0.31777	.	.	ENSG00000171180	ENST00000306687	T	0.00304	8.19	3.08	2.03	0.26663	.	0.669254	0.12223	N	0.488216	T	0.00178	0.0005	N	0.02266	-0.62	0.24675	N	0.993395	D	0.62365	0.991	P	0.61592	0.891	T	0.66188	-0.5986	10	0.49607	T	0.09	.	7.7049	0.28644	0.0:0.0:0.5347:0.4653	.	31	Q96R27	OR2M4_HUMAN	F	31	ENSP00000306688:V31F	ENSP00000306688:V31F	V	+	1	0	OR2M4	246468944	0.007000	0.16637	0.999000	0.59377	0.136000	0.21042	-0.056000	0.11787	1.707000	0.51288	0.543000	0.68304	GTC		PASS	0.473	OR2M4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097352.1	NM_017504		32	240	32	240	---	---	---	---
NBAS	51594	broad.mit.edu	37	2	15470749	15470749	+	Missense_Mutation	SNP	C	C	A			TCGA-34-2608-01A-02D-1522-08	TCGA-34-2608-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3c90209b-b6f6-40b2-a374-6cd37d6d3895	ca1f5f6f-bef8-49af-8bd0-c8beb0c4c53b	g.chr2:15470749C>A	ENST00000281513.5	-	36	4345	c.4320G>T	c.(4318-4320)aaG>aaT	p.K1440N	NBAS_ENST00000441750.1_Missense_Mutation_p.K1320N	NM_015909.3	NP_056993.2	A2RRP1	NBAS_HUMAN	neuroblastoma amplified sequence	1440					negative regulation of nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:2000623)|nuclear-transcribed mRNA catabolic process (GO:0000956)	cytoplasm (GO:0005737)|membrane (GO:0016020)		p.K1440N(1)		NS(4)|breast(4)|central_nervous_system(3)|endometrium(6)|kidney(5)|large_intestine(12)|liver(1)|lung(54)|ovary(2)|pancreas(3)|prostate(9)|skin(6)|stomach(3)	112						AAGTTAAAGACTTCTTCCACC	0.453																																						uc002rcc.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|liver(1)|skin(1)	4						c.(4318-4320)AAG>AAT		neuroblastoma-amplified protein							146.0	134.0	138.0					2																	15470749		2203	4300	6503	SO:0001583	missense	51594							g.chr2:15470749C>A	BC051792	CCDS1685.1	2p24.3	2009-02-23			ENSG00000151779	ENSG00000151779			15625	protein-coding gene	gene with protein product		608025				9926938, 12706883	Standard	NM_015909		Approved	NAG	uc002rcc.2	A2RRP1	OTTHUMG00000121153	ENST00000281513.5:c.4320G>T	2.37:g.15470749C>A	ENSP00000281513:p.Lys1440Asn					NBAS_uc010exl.1_Missense_Mutation_p.K512N|NBAS_uc002rcd.1_RNA	p.K1440N	NM_015909	NP_056993	A2RRP1	NBAS_HUMAN			36	4346	-			1440					O95790|Q2VPJ7|Q53TK6|Q86V39|Q8NFY8|Q9Y3W5	Missense_Mutation	SNP	ENST00000281513.5	37	c.4320G>T	CCDS1685.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.16|18.16	3.563147|3.563147	0.65538|0.65538	.|.	.|.	ENSG00000151779|ENSG00000151779	ENST00000441750;ENST00000281513|ENST00000442506	T;T|.	0.10668|.	2.85;3.02|.	5.61|5.61	4.7|4.7	0.59300|0.59300	.|.	0.348210|.	0.36134|.	N|.	0.002780|.	T|T	0.71195|0.71195	0.3311|0.3311	M|M	0.69823|0.69823	2.125|2.125	0.43574|0.43574	D|D	0.995903|0.995903	D;P|.	0.62365|.	0.991;0.839|.	P;B|.	0.54026|.	0.74;0.164|.	T|T	0.70960|0.70960	-0.4730|-0.4730	10|5	0.87932|.	D|.	0|.	.|.	12.6224|12.6224	0.56610|0.56610	0.0:0.9155:0.0:0.0845|0.0:0.9155:0.0:0.0845	.|.	1320;1440|.	A2RRP1-2;A2RRP1|.	.;NBAS_HUMAN|.	N|I	1320;1440|488	ENSP00000413201:K1320N;ENSP00000281513:K1440N|.	ENSP00000281513:K1440N|.	K|S	-|-	3|2	2|0	NBAS|NBAS	15388200|15388200	1.000000|1.000000	0.71417|0.71417	0.994000|0.994000	0.49952|0.49952	0.976000|0.976000	0.68499|0.68499	0.984000|0.984000	0.29565|0.29565	1.288000|1.288000	0.44600|0.44600	0.650000|0.650000	0.86243|0.86243	AAG|AGT		PASS	0.453	NBAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241638.1	NM_015909		10	94	10	94	---	---	---	---
XDH	7498	broad.mit.edu	37	2	31624177	31624177	+	Missense_Mutation	SNP	G	G	T			TCGA-34-2608-01A-02D-1522-08	TCGA-34-2608-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3c90209b-b6f6-40b2-a374-6cd37d6d3895	ca1f5f6f-bef8-49af-8bd0-c8beb0c4c53b	g.chr2:31624177G>T	ENST00000379416.3	-	4	263	c.215C>A	c.(214-216)gCc>gAc	p.A72D		NM_000379.3	NP_000370.2	P47989	XDH_HUMAN	xanthine dehydrogenase	72	2Fe-2S ferredoxin-type. {ECO:0000255|PROSITE-ProRule:PRU00465}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|lactation (GO:0007595)|negative regulation of endothelial cell differentiation (GO:0045602)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of gene expression (GO:0010629)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of vascular endothelial growth factor signaling pathway (GO:1900747)|negative regulation of vasculogenesis (GO:2001213)|nucleobase-containing small molecule metabolic process (GO:0055086)|positive regulation of p38MAPK cascade (GO:1900745)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide catabolic process (GO:0006195)|small molecule metabolic process (GO:0044281)|xanthine catabolic process (GO:0009115)	cytosol (GO:0005829)|extracellular space (GO:0005615)|peroxisome (GO:0005777)	2 iron, 2 sulfur cluster binding (GO:0051537)|electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|iron ion binding (GO:0005506)|molybdopterin cofactor binding (GO:0043546)|protein homodimerization activity (GO:0042803)|UDP-N-acetylmuramate dehydrogenase activity (GO:0008762)|xanthine dehydrogenase activity (GO:0004854)|xanthine oxidase activity (GO:0004855)	p.A72D(1)		breast(3)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(31)|ovary(1)|pancreas(1)|prostate(3)|skin(9)|urinary_tract(1)	74	Acute lymphoblastic leukemia(172;0.155)				Aldesleukin(DB00041)|Allopurinol(DB00437)|Azathioprine(DB00993)|Carboplatin(DB00958)|Carvedilol(DB01136)|Chlorphenesin(DB00856)|Cisplatin(DB00515)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Doxorubicin(DB00997)|Flavin adenine dinucleotide(DB03147)|L-Carnitine(DB00583)|Menadione(DB00170)|Mercaptopurine(DB01033)|Nitrofural(DB00336)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Spermine(DB00127)|Trifluoperazine(DB00831)	GGCCAGGCAGGCATTGGCAGA	0.507																																					Colon(66;682 1445 30109 40147)	uc002rnv.1																			1	Substitution - Missense(1)		lung(1)	skin(4)|breast(2)|ovary(1)|central_nervous_system(1)	8						c.(214-216)GCC>GAC		xanthine dehydrogenase	Allopurinol(DB00437)|Carvedilol(DB01136)|Daunorubicin(DB00694)|Deferoxamine(DB00746)|Desflurane(DB01189)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|NADH(DB00157)|Nitrofurazone(DB00336)|Papaverine(DB01113)|Procarbazine(DB01168)|Pyrazinamide(DB00339)|Rasburicase(DB00049)|Spermine(DB00127)|Trifluoperazine(DB00831)|Vitamin E(DB00163)						90.0	68.0	76.0					2																	31624177		2203	4300	6503	SO:0001583	missense	7498				purine nucleotide catabolic process|xanthine catabolic process	cytosol|extracellular region|peroxisome	2 iron, 2 sulfur cluster binding|electron carrier activity|flavin adenine dinucleotide binding|iron ion binding|molybdopterin cofactor binding|protein homodimerization activity|xanthine dehydrogenase activity|xanthine oxidase activity	g.chr2:31624177G>T	D11456	CCDS1775.1	2p23.1	2009-07-10	2003-03-20		ENSG00000158125	ENSG00000158125	1.17.1.4		12805	protein-coding gene	gene with protein product		607633	"""xanthene dehydrogenase"""			8224915	Standard	NM_000379		Approved	XOR, XO	uc002rnv.1	P47989	OTTHUMG00000099385	ENST00000379416.3:c.215C>A	2.37:g.31624177G>T	ENSP00000368727:p.Ala72Asp						p.A72D	NM_000379	NP_000370	P47989	XDH_HUMAN			4	294	-	Acute lymphoblastic leukemia(172;0.155)		72			2Fe-2S ferredoxin-type.		Q16681|Q16712|Q4PJ16	Missense_Mutation	SNP	ENST00000379416.3	37	c.215C>A	CCDS1775.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.962926	0.74016	.	.	ENSG00000158125	ENST00000379416	T	0.29397	1.57	6.07	6.07	0.98685	Xanthine dehydrogenase, small subunit (1);Beta-grasp fold, ferredoxin-type (1);Ferredoxin (3);	0.000000	0.85682	D	0.000000	T	0.74673	0.3747	H	0.98883	4.36	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.84613	0.0679	10	0.87932	D	0	.	19.4154	0.94694	0.0:0.0:1.0:0.0	.	72	P47989	XDH_HUMAN	D	72	ENSP00000368727:A72D	ENSP00000368727:A72D	A	-	2	0	XDH	31477681	1.000000	0.71417	1.000000	0.80357	0.166000	0.22503	9.041000	0.93788	2.884000	0.98904	0.655000	0.94253	GCC		PASS	0.507	XDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216840.1	NM_000379		14	77	14	77	---	---	---	---
STON1	11037	broad.mit.edu	37	2	48808989	48808989	+	Missense_Mutation	SNP	C	C	A			TCGA-34-2608-01A-02D-1522-08	TCGA-34-2608-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3c90209b-b6f6-40b2-a374-6cd37d6d3895	ca1f5f6f-bef8-49af-8bd0-c8beb0c4c53b	g.chr2:48808989C>A	ENST00000406226.1	+	3	1412	c.1217C>A	c.(1216-1218)cCa>cAa	p.P406Q	STON1-GTF2A1L_ENST00000402114.2_Missense_Mutation_p.P406Q|STON1-GTF2A1L_ENST00000394751.3_Missense_Mutation_p.P406Q|STON1_ENST00000404752.1_Missense_Mutation_p.P406Q|STON1-GTF2A1L_ENST00000394754.1_Missense_Mutation_p.P406Q|STON1-GTF2A1L_ENST00000405008.1_Missense_Mutation_p.P406Q|STON1_ENST00000309835.3_Missense_Mutation_p.P406Q|STON1-GTF2A1L_ENST00000309827.2_Missense_Mutation_p.P406Q	NM_001198595.1	NP_001185524.1	Q9Y6Q2	STON1_HUMAN	stonin 1	406	SHD. {ECO:0000255|PROSITE- ProRule:PRU00403}.				endocytosis (GO:0006897)|intracellular protein transport (GO:0006886)|regulation of endocytosis (GO:0030100)	clathrin adaptor complex (GO:0030131)		p.P406Q(2)		NS(1)|endometrium(1)|kidney(2)|large_intestine(9)|lung(19)|prostate(3)|skin(2)	37		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.175)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)			GTTTCAAAACCAAAAAAGAAC	0.423																																						uc010yol.1																			2	Substitution - Missense(2)		lung(2)	ovary(3)|pancreas(1)|skin(1)	5						c.(1216-1218)CCA>CAA		stonin 1							68.0	70.0	69.0					2																	48808989		2203	4300	6503	SO:0001583	missense	286749				endocytosis|intracellular protein transport|transcription initiation from RNA polymerase II promoter	clathrin adaptor complex|transcription factor TFIIA complex		g.chr2:48808989C>A	AF026169	CCDS1841.1	2p16.3	2008-02-05			ENSG00000243244	ENSG00000243244			17003	protein-coding gene	gene with protein product	"""stoned B homolog 1 (Drosophila)"""	605357				14504226, 10364255	Standard	NM_001198595		Approved	SBLF, stoned-b1		Q9Y6Q2	OTTHUMG00000129169	ENST00000406226.1:c.1217C>A	2.37:g.48808989C>A	ENSP00000384615:p.Pro406Gln					STON1_uc002rwo.3_Missense_Mutation_p.P406Q|STON1_uc010fbm.2_Missense_Mutation_p.P406Q|STON1-GTF2A1L_uc002rwp.1_Missense_Mutation_p.P406Q|STON1_uc002rwr.2_RNA|STON1_uc002rwq.2_Missense_Mutation_p.P406Q	p.P406Q	NM_006873	NP_006864	B7ZL16	B7ZL16_HUMAN	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		1	1264	+		all_hematologic(82;0.151)|Acute lymphoblastic leukemia(82;0.176)	406					A8MXJ1|B5MCF5|B7ZL16|Q96JE3|Q9BYX3	Missense_Mutation	SNP	ENST00000406226.1	37	c.1217C>A	CCDS1841.1	.	.	.	.	.	.	.	.	.	.	C	0.017	-1.501469	0.01001	.	.	ENSG00000243244;ENSG00000243244;ENSG00000243244;ENSG00000068781;ENSG00000068781;ENSG00000068781;ENSG00000068781;ENSG00000068781	ENST00000404752;ENST00000406226;ENST00000309835;ENST00000405008;ENST00000402114;ENST00000394754;ENST00000309827;ENST00000394751	T;T;T;T;T;T;T;T	0.19806	2.12;2.12;2.12;2.12;2.12;2.12;2.12;2.12	5.27	3.3	0.37823	Stonin homology (1);Clathrin adaptor, mu subunit, C-terminal (2);	0.161766	0.56097	N	0.000030	T	0.08626	0.0214	N	0.02916	-0.46	0.25052	N	0.991124	B;B;B	0.27166	0.116;0.17;0.058	B;B;B	0.26310	0.037;0.068;0.064	T	0.29181	-1.0020	10	0.13470	T	0.59	.	13.4248	0.61020	0.4129:0.5871:0.0:0.0	.	406;406;406	A8MXJ1;Q53S48;Q9Y6Q2	.;.;STON1_HUMAN	Q	406	ENSP00000385273:P406Q;ENSP00000384615:P406Q;ENSP00000310969:P406Q;ENSP00000385499:P406Q;ENSP00000385701:P406Q;ENSP00000378236:P406Q;ENSP00000311493:P406Q;ENSP00000378234:P406Q	ENSP00000310969:P406Q	P	+	2	0	STON1-GTF2A1L;STON1	48662493	0.953000	0.32496	0.094000	0.20943	0.964000	0.63967	2.158000	0.42329	1.411000	0.46957	0.655000	0.94253	CCA		PASS	0.423	STON1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323848.2	NM_006873		25	160	25	160	---	---	---	---
FSHR	2492	broad.mit.edu	37	2	49381457	49381457	+	Missense_Mutation	SNP	C	C	T			TCGA-34-2608-01A-02D-1522-08	TCGA-34-2608-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3c90209b-b6f6-40b2-a374-6cd37d6d3895	ca1f5f6f-bef8-49af-8bd0-c8beb0c4c53b	g.chr2:49381457C>T	ENST00000406846.2	-	1	219	c.100G>A	c.(100-102)Gag>Aag	p.E34K	FSHR_ENST00000304421.4_Missense_Mutation_p.E34K|FSHR_ENST00000346173.3_Missense_Mutation_p.E34K	NM_000145.3	NP_000136.2	P23945	FSHR_HUMAN	follicle stimulating hormone receptor	34	LRRNT.				female gamete generation (GO:0007292)|female gonad development (GO:0008585)|follicle-stimulating hormone signaling pathway (GO:0042699)|G-protein coupled receptor signaling pathway (GO:0007186)|gonad development (GO:0008406)|male gonad development (GO:0008584)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	follicle-stimulating hormone receptor activity (GO:0004963)	p.E34K(1)		NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(10)|liver(1)|lung(45)|ovary(4)|pancreas(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	73		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181)	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Suramin(DB04786)|Urofollitropin(DB00094)	ACCTTGCTCTCTTGGCAGAGA	0.522									Gonadal Dysgenesis, 46 XX																													uc002rww.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|lung(2)|central_nervous_system(1)|skin(1)	8						c.(100-102)GAG>AAG		follicle stimulating hormone receptor isoform 1	Choriogonadotropin alfa(DB00097)|Follitropin beta(DB00066)|Menotropins(DB00032)|Urofollitropin(DB00094)						75.0	76.0	76.0					2																	49381457		2203	4300	6503	SO:0001583	missense	2492	Gonadal_Dysgenesis_46_XX	Familial Cancer Database		female gamete generation|male gonad development|spermatogenesis	integral to membrane|plasma membrane	follicle-stimulating hormone receptor activity|protein binding	g.chr2:49381457C>T		CCDS1843.1, CCDS1844.1, CCDS1844.2	2p21-p16	2014-09-17			ENSG00000170820	ENSG00000170820		"""GPCR / Class A : Gonadotropin and TSH receptors"""	3969	protein-coding gene	gene with protein product		136435		ODG1		8230163, 8855829	Standard	NM_000145		Approved	FSHRO, LGR1	uc002rww.3	P23945	OTTHUMG00000129259	ENST00000406846.2:c.100G>A	2.37:g.49381457C>T	ENSP00000384708:p.Glu34Lys					FSHR_uc002rwx.2_Missense_Mutation_p.E34K|FSHR_uc010fbn.2_Missense_Mutation_p.E34K|FSHR_uc010fbo.1_RNA	p.E34K	NM_000145	NP_000136	P23945	FSHR_HUMAN	Lung(47;0.101)|LUSC - Lung squamous cell carcinoma(58;0.151)		1	174	-		all_hematologic(82;0.152)|Acute lymphoblastic leukemia(82;0.181)	34			LRRNT.|Extracellular (Potential).		A8K947|G5CBS7|G5E967|J3KQ00|Q05AH0|Q16225|Q4QRJ3|Q4ZFZ2|Q53RW2	Missense_Mutation	SNP	ENST00000406846.2	37	c.100G>A	CCDS1843.1	.	.	.	.	.	.	.	.	.	.	C	16.10	3.025989	0.54683	.	.	ENSG00000170820	ENST00000406846;ENST00000346173;ENST00000304421;ENST00000454032	D;D;D;D	0.96522	-4.04;-4.04;-4.04;-4.04	5.46	5.46	0.80206	Leucine-rich repeat-containing N-terminal (2);	0.211098	0.40640	N	0.001055	D	0.95408	0.8509	L	0.57536	1.79	0.80722	D	1	P;P;P	0.41188	0.698;0.741;0.534	P;B;B	0.44447	0.45;0.054;0.262	D	0.94172	0.7424	9	.	.	.	.	14.6913	0.69087	0.0:1.0:0.0:0.0	.	34;34;34	Q05AH0;G5E967;P23945	.;.;FSHR_HUMAN	K	34	ENSP00000384708:E34K;ENSP00000333908:E34K;ENSP00000306780:E34K;ENSP00000415504:E34K	.	E	-	1	0	FSHR	49234961	0.998000	0.40836	0.999000	0.59377	0.999000	0.98932	4.110000	0.57831	2.840000	0.97914	0.655000	0.94253	GAG		PASS	0.522	FSHR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251367.2			6	90	6	90	---	---	---	---
TMEM131	23505	broad.mit.edu	37	2	98409416	98409416	+	Missense_Mutation	SNP	T	T	A			TCGA-34-2608-01A-02D-1522-08	TCGA-34-2608-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3c90209b-b6f6-40b2-a374-6cd37d6d3895	ca1f5f6f-bef8-49af-8bd0-c8beb0c4c53b	g.chr2:98409416T>A	ENST00000186436.5	-	31	3805	c.3577A>T	c.(3577-3579)Agt>Tgt	p.S1193C		NM_015348.1	NP_056163.1	Q92545	TM131_HUMAN	transmembrane protein 131	1193						integral component of membrane (GO:0016021)		p.S1080C(1)|p.S1193C(1)		NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(4)|prostate(1)|skin(1)|stomach(1)	57						AACCCCCTACTGTGACCGGGG	0.498																																						uc002syh.3																			2	Substitution - Missense(2)		lung(2)	ovary(4)|central_nervous_system(2)	6						c.(3577-3579)AGT>TGT		RW1 protein							34.0	32.0	33.0					2																	98409416		2091	4236	6327	SO:0001583	missense	23505					integral to membrane		g.chr2:98409416T>A	AK025852	CCDS46368.1	2q11.2	2006-04-12			ENSG00000075568	ENSG00000075568			30366	protein-coding gene	gene with protein product		615659				9039502, 10996388	Standard	NM_015348		Approved	CC28, YR-23, RW1, KIAA0257, PRO1048	uc002syh.4	Q92545	OTTHUMG00000153061	ENST00000186436.5:c.3577A>T	2.37:g.98409416T>A	ENSP00000186436:p.Ser1193Cys						p.S1193C	NM_015348	NP_056163	Q92545	TM131_HUMAN			31	3806	-			1193						Missense_Mutation	SNP	ENST00000186436.5	37	c.3577A>T	CCDS46368.1	.	.	.	.	.	.	.	.	.	.	T	18.67	3.673080	0.67928	.	.	ENSG00000075568	ENST00000186436;ENST00000409721	T	0.34667	1.35	6.02	-3.07	0.05363	.	0.712858	0.15327	N	0.268238	T	0.27384	0.0672	L	0.29908	0.895	0.44289	D	0.997156	P	0.47106	0.89	B	0.43155	0.41	T	0.19976	-1.0289	10	0.72032	D	0.01	-0.3294	14.1756	0.65539	0.0:0.5294:0.0:0.4706	.	1193	Q92545	TM131_HUMAN	C	1193;110	ENSP00000186436:S1193C	ENSP00000186436:S1193C	S	-	1	0	TMEM131	97775848	0.771000	0.28555	0.357000	0.25798	0.980000	0.70556	0.032000	0.13732	-0.554000	0.06150	-0.297000	0.09499	AGT		PASS	0.498	TMEM131-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329285.2	XM_371542		5	24	5	24	---	---	---	---
IL1R2	7850	broad.mit.edu	37	2	102626181	102626181	+	Silent	SNP	T	T	C			TCGA-34-2608-01A-02D-1522-08	TCGA-34-2608-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3c90209b-b6f6-40b2-a374-6cd37d6d3895	ca1f5f6f-bef8-49af-8bd0-c8beb0c4c53b	g.chr2:102626181T>C	ENST00000332549.3	+	3	454	c.225T>C	c.(223-225)gcT>gcC	p.A75A	IL1R2_ENST00000441002.1_Silent_p.A75A|IL1R2_ENST00000393414.2_Silent_p.A75A	NM_004633.3	NP_004624.1	P27930	IL1R2_HUMAN	interleukin 1 receptor, type II	75	Ig-like C2-type 1.				cytokine-mediated signaling pathway (GO:0019221)|immune response (GO:0006955)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	interleukin-1 receptor activity (GO:0004908)|interleukin-1, Type II, blocking receptor activity (GO:0004910)	p.A75A(1)		breast(3)|endometrium(1)|kidney(1)|large_intestine(8)|lung(13)|ovary(1)|skin(1)	28						ATGACTCTGCTAGGACGGTCC	0.607																																					Pancreas(106;189 1628 2302 5133 12295)	uc002tbm.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|breast(1)	2						c.(223-225)GCT>GCC		interleukin 1 receptor, type II precursor	Anakinra(DB00026)						156.0	163.0	160.0					2																	102626181		2203	4300	6503	SO:0001819	synonymous_variant	7850				immune response	integral to membrane|plasma membrane	interleukin-1, Type II, blocking receptor activity	g.chr2:102626181T>C	X59770	CCDS2054.1, CCDS58719.1	2q12	2013-01-11			ENSG00000115590	ENSG00000115590		"""Interleukins and interleukin receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5994	protein-coding gene	gene with protein product		147811		IL1RB		10191101, 1833184	Standard	NM_004633		Approved	CD121b	uc002tbm.3	P27930	OTTHUMG00000130695	ENST00000332549.3:c.225T>C	2.37:g.102626181T>C						IL1R2_uc002tbn.2_Silent_p.A75A|IL1R2_uc002tbo.1_Silent_p.A75A	p.A75A	NM_004633	NP_004624	P27930	IL1R2_HUMAN			3	454	+			75			Extracellular (Potential).|Ig-like C2-type 1.		D3DVJ5|Q6LCE6|Q9UE68	Silent	SNP	ENST00000332549.3	37	c.225T>C	CCDS2054.1																																																																																				PASS	0.607	IL1R2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253191.1	NM_004633		55	387	55	387	---	---	---	---
GPR45	11250	broad.mit.edu	37	2	105859092	105859092	+	Silent	SNP	G	G	A			TCGA-34-2608-01A-02D-1522-08	TCGA-34-2608-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3c90209b-b6f6-40b2-a374-6cd37d6d3895	ca1f5f6f-bef8-49af-8bd0-c8beb0c4c53b	g.chr2:105859092G>A	ENST00000258456.1	+	1	893	c.777G>A	c.(775-777)ttG>ttA	p.L259L		NM_007227.3	NP_009158.3	Q9Y5Y3	GPR45_HUMAN	G protein-coupled receptor 45	259						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.L259L(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(8)|lung(10)|ovary(1)|prostate(1)|stomach(1)|urinary_tract(1)	28						GCGTGGACTTGAGCTTCAAGA	0.642																																						uc002tco.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|breast(1)|central_nervous_system(1)	3						c.(775-777)TTG>TTA		G protein-coupled receptor 45							164.0	161.0	162.0					2																	105859092		2203	4300	6503	SO:0001819	synonymous_variant	11250					integral to membrane|plasma membrane	G-protein coupled receptor activity|protein binding	g.chr2:105859092G>A	AF118266	CCDS2066.1	2q11.1-q12	2012-08-21			ENSG00000135973	ENSG00000135973		"""GPCR / Class A : Orphans"""	4503	protein-coding gene	gene with protein product		604838				10036181	Standard	NM_007227		Approved	PSP24, PSP24A	uc002tco.1	Q9Y5Y3	OTTHUMG00000130805	ENST00000258456.1:c.777G>A	2.37:g.105859092G>A							p.L259L	NM_007227	NP_009158	Q9Y5Y3	GPR45_HUMAN			1	893	+			259			Cytoplasmic (Potential).		Q6NWS4|Q6NXU6	Silent	SNP	ENST00000258456.1	37	c.777G>A	CCDS2066.1																																																																																				PASS	0.642	GPR45-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253348.1	NM_007227		42	258	42	258	---	---	---	---
SCN7A	6332	broad.mit.edu	37	2	167322348	167322348	+	Nonsense_Mutation	SNP	G	G	A			TCGA-34-2608-01A-02D-1522-08	TCGA-34-2608-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3c90209b-b6f6-40b2-a374-6cd37d6d3895	ca1f5f6f-bef8-49af-8bd0-c8beb0c4c53b	g.chr2:167322348G>A	ENST00000409855.1	-	7	940	c.814C>T	c.(814-816)Caa>Taa	p.Q272*		NM_002976.3	NP_002967.2	Q01118	SCN7A_HUMAN	sodium channel, voltage-gated, type VII, alpha subunit	272					membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|neuronal action potential (GO:0019228)|sodium ion homeostasis (GO:0055078)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	glial cell projection (GO:0097386)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)	p.Q272*(2)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(30)|prostate(4)|soft_tissue(1)|urinary_tract(1)	44					Valproic Acid(DB00313)	TCATTCTCTTGGGGCCATCGA	0.378																																						uc002udu.1																			2	Substitution - Nonsense(2)		lung(2)	large_intestine(1)	1						c.(814-816)CAA>TAA		sodium channel, voltage-gated, type VII, alpha							123.0	115.0	118.0					2																	167322348		1824	4086	5910	SO:0001587	stop_gained	6332				muscle contraction	voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:167322348G>A	M91556	CCDS46442.1	2q21-q23	2012-03-05	2012-02-28	2002-06-14	ENSG00000136546	ENSG00000136546		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10594	protein-coding gene	gene with protein product		182392	"""sodium channel, voltage-gated, type VI, alpha"", ""sodium channel, voltage-gated, type VII, alpha"""	SCN6A		10198179	Standard	NM_002976		Approved	Nav2.1, Nav2.2, NaG	uc002udu.2	Q01118	OTTHUMG00000154078	ENST00000409855.1:c.814C>T	2.37:g.167322348G>A	ENSP00000386796:p.Gln272*					SCN7A_uc010fpm.1_RNA	p.Q272*	NM_002976	NP_002967	Q01118	SCN7A_HUMAN			7	941	-			272						Nonsense_Mutation	SNP	ENST00000409855.1	37	c.814C>T	CCDS46442.1	.	.	.	.	.	.	.	.	.	.	G	27.2	4.808520	0.90707	.	.	ENSG00000136546	ENST00000409855;ENST00000259060;ENST00000419992;ENST00000441411	.	.	.	5.48	2.4	0.29515	.	0.683138	0.13348	N	0.394635	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.13108	T	0.6	.	4.0667	0.09864	0.0805:0.1389:0.4953:0.2854	.	.	.	.	X	272	.	ENSP00000259060:Q272X	Q	-	1	0	SCN7A	167030594	.	.	0.954000	0.39281	0.432000	0.31715	.	.	0.716000	0.32124	0.585000	0.79938	CAA		PASS	0.378	SCN7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000333745.1			23	213	23	213	---	---	---	---
LRP2	4036	broad.mit.edu	37	2	170058365	170058365	+	Nonsense_Mutation	SNP	G	G	T			TCGA-34-2608-01A-02D-1522-08	TCGA-34-2608-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3c90209b-b6f6-40b2-a374-6cd37d6d3895	ca1f5f6f-bef8-49af-8bd0-c8beb0c4c53b	g.chr2:170058365G>T	ENST00000263816.3	-	44	8510	c.8225C>A	c.(8224-8226)tCa>tAa	p.S2742*		NM_004525.2	NP_004516.2	P98164	LRP2_HUMAN	low density lipoprotein receptor-related protein 2	2742	LDL-receptor class A 17. {ECO:0000255|PROSITE-ProRule:PRU00124}.				cell proliferation (GO:0008283)|endocytosis (GO:0006897)|forebrain development (GO:0030900)|lipid metabolic process (GO:0006629)|phototransduction, visible light (GO:0007603)|protein glycosylation (GO:0006486)|receptor-mediated endocytosis (GO:0006898)|retinoid metabolic process (GO:0001523)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|vitamin D metabolic process (GO:0042359)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)	p.S2742*(1)		biliary_tract(1)|breast(16)|central_nervous_system(6)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(2)|kidney(17)|large_intestine(70)|liver(1)|lung(117)|ovary(19)|pancreas(1)|prostate(2)|skin(17)|upper_aerodigestive_tract(7)|urinary_tract(13)	315				STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	"""""""Insulin(DB00071)|Gentamicin(DB00798)|Insulin Regular(DB00030)|Urokinase(DB00013)"""	GGCTGTCGGTGAGCAGGTGTG	0.413																																						uc002ues.2																			1	Substitution - Nonsense(1)		lung(1)	ovary(13)|skin(6)|central_nervous_system(4)|large_intestine(3)|kidney(2)|pancreas(1)	29						c.(8224-8226)TCA>TAA		low density lipoprotein-related protein 2	Gentamicin(DB00798)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)|Urokinase(DB00013)						110.0	100.0	103.0					2																	170058365		2203	4300	6503	SO:0001587	stop_gained	4036				hormone biosynthetic process|protein glycosylation|receptor-mediated endocytosis|vitamin D metabolic process	coated pit|integral to membrane|lysosome	calcium ion binding|receptor activity|SH3 domain binding	g.chr2:170058365G>T		CCDS2232.1	2q31.1	2013-05-28	2010-01-26		ENSG00000081479	ENSG00000081479		"""Low density lipoprotein receptors"""	6694	protein-coding gene	gene with protein product	"""megalin"""	600073				7959795	Standard	NM_004525		Approved	gp330, DBS	uc002ues.3	P98164	OTTHUMG00000132179	ENST00000263816.3:c.8225C>A	2.37:g.170058365G>T	ENSP00000263816:p.Ser2742*						p.S2742*	NM_004525	NP_004516	P98164	LRP2_HUMAN		STAD - Stomach adenocarcinoma(1183;0.000766)|COAD - Colon adenocarcinoma(177;0.0101)	44	8438	-			2742			Extracellular (Potential).|LDL-receptor class A 17.		O00711|Q16215	Nonsense_Mutation	SNP	ENST00000263816.3	37	c.8225C>A	CCDS2232.1	.	.	.	.	.	.	.	.	.	.	G	50	16.790958	0.99872	.	.	ENSG00000081479	ENST00000263816	.	.	.	5.7	-2.69	0.06022	.	0.784475	0.12618	N	0.453307	.	.	.	.	.	.	0.35886	D	0.829338	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	5.3541	0.16051	0.0741:0.1047:0.3035:0.5177	.	.	.	.	X	2742	.	ENSP00000263816:S2742X	S	-	2	0	LRP2	169766611	0.948000	0.32251	0.003000	0.11579	0.877000	0.50540	0.651000	0.24873	-0.320000	0.08640	0.650000	0.86243	TCA		PASS	0.413	LRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255231.2	NM_004525		13	112	13	112	---	---	---	---
NFE2L2	4780	broad.mit.edu	37	2	178098966	178098966	+	Missense_Mutation	SNP	C	C	G			TCGA-34-2608-01A-02D-1522-08	TCGA-34-2608-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3c90209b-b6f6-40b2-a374-6cd37d6d3895	ca1f5f6f-bef8-49af-8bd0-c8beb0c4c53b	g.chr2:178098966C>G	ENST00000397062.3	-	2	633	c.79G>C	c.(79-81)Gat>Cat	p.D27H	NFE2L2_ENST00000423513.1_Missense_Mutation_p.D11H|NFE2L2_ENST00000446151.2_Missense_Mutation_p.D11H|NFE2L2_ENST00000464747.1_Missense_Mutation_p.D11H|NFE2L2_ENST00000397063.4_Missense_Mutation_p.D11H	NM_006164.4	NP_006155.2	Q16236	NF2L2_HUMAN	nuclear factor, erythroid 2-like 2	27					cellular response to hydrogen peroxide (GO:0070301)|cellular response to laminar fluid shear stress (GO:0071499)|cellular response to tumor necrosis factor (GO:0071356)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|positive regulation of blood coagulation (GO:0030194)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to stress (GO:0036003)|proteasomal ubiquitin-independent protein catabolic process (GO:0010499)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination (GO:0016567)|regulation of embryonic development (GO:0045995)|regulation of removal of superoxide radicals (GO:2000121)|transcription from RNA polymerase II promoter (GO:0006366)	centrosome (GO:0005813)|chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|protein domain specific binding (GO:0019904)|RNA polymerase II activating transcription factor binding (GO:0001102)|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 positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.D27Y(1)|p.D27H(1)		central_nervous_system(1)|cervix(4)|endometrium(14)|kidney(5)|large_intestine(4)|liver(13)|lung(71)|oesophagus(29)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	158			Epithelial(96;0.00442)|OV - Ovarian serous cystadenocarcinoma(117;0.00739)|all cancers(119;0.0195)|LUSC - Lung squamous cell carcinoma(2;0.036)|Lung(16;0.0935)			AGATCTATATCTTGCCTCCAA	0.353			Mis		"""NSCLC, HNSCC"""					HNSCC(56;0.16)																												uc002ulh.3				Dom	yes		2	2q31	4780	Mis	nuclear factor (erythroid-derived 2)-like 2 (NRF2)			E			NSCLC|HNSCC		2	Substitution - Missense(2)		lung(1)|oesophagus(1)	central_nervous_system(1)	1						c.(79-81)GAT>CAT		nuclear factor erythroid 2-like 2 isoform 1							62.0	55.0	57.0					2																	178098966		1843	4100	5943	SO:0001583	missense	4780				transcription from RNA polymerase II promoter	centrosome|cytosol|nucleus|plasma membrane	protein dimerization activity|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:178098966C>G		CCDS42782.1, CCDS46457.1, CCDS46458.1	2q31	2013-08-23	2013-08-23		ENSG00000116044	ENSG00000116044		"""basic leucine zipper proteins"""	7782	protein-coding gene	gene with protein product	"""NF-E2-related factor 2"""	600492	"""nuclear factor (erythroid-derived 2)-like 2"""			7937919	Standard	NM_006164		Approved	NRF2	uc002ulh.5	Q16236	OTTHUMG00000133620	ENST00000397062.3:c.79G>C	2.37:g.178098966C>G	ENSP00000380252:p.Asp27His	HNSCC(56;0.16)				NFE2L2_uc002ulg.3_Missense_Mutation_p.D11H|NFE2L2_uc010zfa.1_Missense_Mutation_p.D11H|NFE2L2_uc002uli.3_Missense_Mutation_p.D11H|NFE2L2_uc010fra.2_Missense_Mutation_p.D11H|NFE2L2_uc010frb.2_Missense_Mutation_p.D11H	p.D27H	NM_006164	NP_006155	Q16236	NF2L2_HUMAN	Epithelial(96;0.00442)|OV - Ovarian serous cystadenocarcinoma(117;0.00739)|all cancers(119;0.0195)|LUSC - Lung squamous cell carcinoma(2;0.036)|Lung(16;0.0935)		2	634	-			27					B2RBU2|B4E338|E9PGJ7|Q53RW6|Q59HH2|Q96F71	Missense_Mutation	SNP	ENST00000397062.3	37	c.79G>C	CCDS42782.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.100373	0.76983	.	.	ENSG00000116044	ENST00000397063;ENST00000397062;ENST00000446151;ENST00000449627;ENST00000448782;ENST00000421929;ENST00000423513	T;T;T;T;T;T;T	0.32272	1.46;1.46;1.46;1.46;1.46;1.46;1.46	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	T	0.64327	0.2588	M	0.87180	2.865	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.998;0.999;0.999	T	0.69087	-0.5238	10	0.87932	D	0	.	19.9976	0.97389	0.0:1.0:0.0:0.0	.	11;11;11;27	E9PGJ7;B4DNB0;C9JFL6;Q16236	.;.;.;NF2L2_HUMAN	H	11;27;11;11;11;11;11	ENSP00000380253:D11H;ENSP00000380252:D27H;ENSP00000411575:D11H;ENSP00000391590:D11H;ENSP00000400073:D11H;ENSP00000412191:D11H;ENSP00000410015:D11H	ENSP00000380252:D27H	D	-	1	0	NFE2L2	177807212	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	7.487000	0.81328	2.737000	0.93849	0.563000	0.77884	GAT		PASS	0.353	NFE2L2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000257752.4	NM_006164		10	101	10	101	---	---	---	---
NFE2L2	4780	broad.mit.edu	37	2	178098973	178098973	+	Missense_Mutation	SNP	C	C	G			TCGA-34-2608-01A-02D-1522-08	TCGA-34-2608-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3c90209b-b6f6-40b2-a374-6cd37d6d3895	ca1f5f6f-bef8-49af-8bd0-c8beb0c4c53b	g.chr2:178098973C>G	ENST00000397062.3	-	2	626	c.72G>C	c.(70-72)tgG>tgC	p.W24C	NFE2L2_ENST00000423513.1_Missense_Mutation_p.W8C|NFE2L2_ENST00000446151.2_Missense_Mutation_p.W8C|NFE2L2_ENST00000464747.1_Missense_Mutation_p.W8C|NFE2L2_ENST00000397063.4_Missense_Mutation_p.W8C	NM_006164.4	NP_006155.2	Q16236	NF2L2_HUMAN	nuclear factor, erythroid 2-like 2	24					cellular response to hydrogen peroxide (GO:0070301)|cellular response to laminar fluid shear stress (GO:0071499)|cellular response to tumor necrosis factor (GO:0071356)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|positive regulation of blood coagulation (GO:0030194)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to stress (GO:0036003)|proteasomal ubiquitin-independent protein catabolic process (GO:0010499)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein ubiquitination (GO:0016567)|regulation of embryonic development (GO:0045995)|regulation of removal of superoxide radicals (GO:2000121)|transcription from RNA polymerase II promoter (GO:0006366)	centrosome (GO:0005813)|chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|protein domain specific binding (GO:0019904)|RNA polymerase II activating transcription factor binding (GO:0001102)|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 positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.W24C(5)		central_nervous_system(1)|cervix(4)|endometrium(14)|kidney(5)|large_intestine(4)|liver(13)|lung(71)|oesophagus(29)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	158			Epithelial(96;0.00442)|OV - Ovarian serous cystadenocarcinoma(117;0.00739)|all cancers(119;0.0195)|LUSC - Lung squamous cell carcinoma(2;0.036)|Lung(16;0.0935)			TATCTTGCCTCCAAAGTATGT	0.348			Mis		"""NSCLC, HNSCC"""					HNSCC(56;0.16)																												uc002ulh.3				Dom	yes		2	2q31	4780	Mis	nuclear factor (erythroid-derived 2)-like 2 (NRF2)			E			NSCLC|HNSCC		5	Substitution - Missense(5)		lung(3)|oesophagus(2)	central_nervous_system(1)	1						c.(70-72)TGG>TGC		nuclear factor erythroid 2-like 2 isoform 1							56.0	50.0	52.0					2																	178098973		1838	4096	5934	SO:0001583	missense	4780				transcription from RNA polymerase II promoter	centrosome|cytosol|nucleus|plasma membrane	protein dimerization activity|protein domain specific binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr2:178098973C>G		CCDS42782.1, CCDS46457.1, CCDS46458.1	2q31	2013-08-23	2013-08-23		ENSG00000116044	ENSG00000116044		"""basic leucine zipper proteins"""	7782	protein-coding gene	gene with protein product	"""NF-E2-related factor 2"""	600492	"""nuclear factor (erythroid-derived 2)-like 2"""			7937919	Standard	NM_006164		Approved	NRF2	uc002ulh.5	Q16236	OTTHUMG00000133620	ENST00000397062.3:c.72G>C	2.37:g.178098973C>G	ENSP00000380252:p.Trp24Cys	HNSCC(56;0.16)				NFE2L2_uc002ulg.3_Missense_Mutation_p.W8C|NFE2L2_uc010zfa.1_Missense_Mutation_p.W8C|NFE2L2_uc002uli.3_Missense_Mutation_p.W8C|NFE2L2_uc010fra.2_Missense_Mutation_p.W8C|NFE2L2_uc010frb.2_Missense_Mutation_p.W8C	p.W24C	NM_006164	NP_006155	Q16236	NF2L2_HUMAN	Epithelial(96;0.00442)|OV - Ovarian serous cystadenocarcinoma(117;0.00739)|all cancers(119;0.0195)|LUSC - Lung squamous cell carcinoma(2;0.036)|Lung(16;0.0935)		2	627	-			24					B2RBU2|B4E338|E9PGJ7|Q53RW6|Q59HH2|Q96F71	Missense_Mutation	SNP	ENST00000397062.3	37	c.72G>C	CCDS42782.1	.	.	.	.	.	.	.	.	.	.	C	18.62	3.663565	0.67700	.	.	ENSG00000116044	ENST00000397063;ENST00000397062;ENST00000446151;ENST00000449627;ENST00000448782;ENST00000421929;ENST00000423513	T;T;T;T;T;T;T	0.31769	1.48;1.48;1.48;1.48;1.48;1.48;1.48	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	T	0.64327	0.2588	M	0.87180	2.865	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.998;0.997;0.999;0.998	T	0.69087	-0.5238	10	0.87932	D	0	.	19.9976	0.97389	0.0:1.0:0.0:0.0	.	8;8;8;24	E9PGJ7;B4DNB0;C9JFL6;Q16236	.;.;.;NF2L2_HUMAN	C	8;24;8;8;8;8;8	ENSP00000380253:W8C;ENSP00000380252:W24C;ENSP00000411575:W8C;ENSP00000391590:W8C;ENSP00000400073:W8C;ENSP00000412191:W8C;ENSP00000410015:W8C	ENSP00000380252:W24C	W	-	3	0	NFE2L2	177807219	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.487000	0.81328	2.737000	0.93849	0.563000	0.77884	TGG		PASS	0.348	NFE2L2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000257752.4	NM_006164		10	101	10	101	---	---	---	---
TTN	7273	broad.mit.edu	37	2	179424877	179424877	+	Missense_Mutation	SNP	A	A	G			TCGA-34-2608-01A-02D-1522-08	TCGA-34-2608-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3c90209b-b6f6-40b2-a374-6cd37d6d3895	ca1f5f6f-bef8-49af-8bd0-c8beb0c4c53b	g.chr2:179424877A>G	ENST00000591111.1	-	276	81283	c.81059T>C	c.(81058-81060)gTg>gCg	p.V27020A	TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.V19721A|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.V26093A|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.V28661A|TTN_ENST00000342175.6_Missense_Mutation_p.V19788A|TTN_ENST00000460472.2_Missense_Mutation_p.V19596A|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000590932.1_RNA			Q8WZ42	TITIN_HUMAN	titin	27020	Fibronectin type-III 97. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.V26091A(1)|p.V26093A(1)|p.V19721A(1)|p.V19596A(1)|p.V19788A(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GCCTGAGTCCACAATTTTGGG	0.448																																						uc010zfg.1																			5	Substitution - Missense(5)		lung(5)	ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(78277-78279)GTG>GCG		titin isoform N2-A							106.0	103.0	104.0					2																	179424877		1897	4111	6008	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179424877A>G	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.81059T>C	2.37:g.179424877A>G	ENSP00000465570:p.Val27020Ala					uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.V19788A|TTN_uc010zfi.1_Missense_Mutation_p.V19721A|TTN_uc010zfj.1_Missense_Mutation_p.V19596A	p.V26093A	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		275	78502	-			27020					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.78278T>C		.	.	.	.	.	.	.	.	.	.	A	15.65	2.896048	0.52121	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.56941	0.43;0.43;0.43;0.43	6.17	6.17	0.99709	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.50616	0.1626	L	0.39898	1.24	0.43673	D	0.996109	B;B;B;B	0.25351	0.055;0.055;0.055;0.124	B;B;B;B	0.31614	0.109;0.109;0.109;0.133	T	0.49670	-0.8915	9	0.87932	D	0	.	16.8222	0.85835	1.0:0.0:0.0:0.0	.	19596;19721;19788;27020	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	A	26093;19596;19788;19721;19593	ENSP00000343764:V26093A;ENSP00000434586:V19596A;ENSP00000340554:V19788A;ENSP00000352154:V19721A	ENSP00000340554:V19788A	V	-	2	0	TTN	179133123	1.000000	0.71417	0.995000	0.50966	0.963000	0.63663	7.531000	0.81973	2.371000	0.80710	0.533000	0.62120	GTG		PASS	0.448	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		21	178	21	178	---	---	---	---
TTN	7273	broad.mit.edu	37	2	179606351	179606351	+	Missense_Mutation	SNP	A	A	G			TCGA-34-2608-01A-02D-1522-08	TCGA-34-2608-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3c90209b-b6f6-40b2-a374-6cd37d6d3895	ca1f5f6f-bef8-49af-8bd0-c8beb0c4c53b	g.chr2:179606351A>G	ENST00000591111.1	-	46	10882	c.10658T>C	c.(10657-10659)tTt>tCt	p.F3553S	TTN_ENST00000359218.5_Missense_Mutation_p.F3632S|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.F3870S|TTN_ENST00000342175.6_Missense_Mutation_p.F3699S|TTN_ENST00000460472.2_Missense_Mutation_p.F3507S|TTN-AS1_ENST00000582847.1_RNA|TTN-AS1_ENST00000585451.1_RNA			Q8WZ42	TITIN_HUMAN	titin	13888	Ig-like 21.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.F3632S(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ATCACCGTCAAAAACAAATTT	0.403																																						uc010zfh.1																			1	Substitution - Missense(1)		lung(1)	ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(11095-11097)TTT>TCT		titin isoform novex-2							116.0	111.0	112.0					2																	179606351		1906	4116	6022	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179606351A>G	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.10658T>C	2.37:g.179606351A>G	ENSP00000465570:p.Phe3553Ser					TTN_uc010zfg.1_Intron|TTN_uc010zfi.1_Missense_Mutation_p.F3632S|TTN_uc010zfj.1_Missense_Mutation_p.F3507S|TTN_uc002umz.1_Intron	p.F3699S	NM_133437	NP_597681	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		46	11320	-			Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					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.11096T>C		.	.	.	.	.	.	.	.	.	.	A	12.49	1.953676	0.34471	.	.	ENSG00000155657	ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T	0.66280	-0.2;-0.2;-0.2	6.08	4.9	0.64082	.	.	.	.	.	T	0.44540	0.1298	N	0.05574	-0.02	0.24593	N	0.993815	B;B;B	0.21381	0.055;0.055;0.055	B;B;B	0.27170	0.077;0.077;0.077	T	0.44065	-0.9352	9	0.87932	D	0	.	10.2288	0.43243	0.6226:0.0:0.0:0.3774	.	3507;3632;3699	D3DPF9;E7EQE6;E7ET18	.;.;.	S	3507;3699;3632;3507	ENSP00000434586:F3507S;ENSP00000340554:F3699S;ENSP00000352154:F3632S	ENSP00000340554:F3699S	F	-	2	0	TTN	179314596	1.000000	0.71417	0.948000	0.38648	0.983000	0.72400	3.793000	0.55484	1.082000	0.41137	0.482000	0.46254	TTT		PASS	0.403	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		29	178	29	178	---	---	---	---
TTN	7273	broad.mit.edu	37	2	179621470	179621470	+	Intron	SNP	G	G	A			TCGA-34-2608-01A-02D-1522-08	TCGA-34-2608-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3c90209b-b6f6-40b2-a374-6cd37d6d3895	ca1f5f6f-bef8-49af-8bd0-c8beb0c4c53b	g.chr2:179621470G>A	ENST00000591111.1	-	44	10528				TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Intron|TTN-AS1_ENST00000578746.1_RNA|TTN-AS1_ENST00000590773.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.S3578F|TTN_ENST00000342175.6_Missense_Mutation_p.S3407F|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000360870.5_Intron|TTN-AS1_ENST00000610005.1_RNA			Q8WZ42	TITIN_HUMAN	titin						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)			CACTGCCTGGGACTTGGCGGA	0.383																																						uc010zfh.1																			0				ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(10219-10221)TCC>TTC		titin isoform novex-2							67.0	64.0	65.0					2																	179621470		1895	4122	6017	SO:0001627	intron_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179621470G>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.10303+2240C>T	2.37:g.179621470G>A						TTN_uc010zfg.1_Intron|TTN_uc010zfi.1_Intron|TTN_uc010zfj.1_Intron|TTN_uc002umz.1_Intron|TTN_uc002unb.2_Intron	p.S3407F	NM_133437	NP_597681	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		44	10444	-			Error:AA_residue_mismatch_between_GAF_and_UniProt_prot_seqs_after_alignment					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.10220C>T		.	.	.	.	.	.	.	.	.	.	G	12.66	2.005035	0.35415	.	.	ENSG00000155657	ENST00000342175	T	0.61742	0.08	5.93	4.11	0.48088	.	.	.	.	.	T	0.51160	0.1658	.	.	.	0.80722	D	1	B	0.12013	0.005	B	0.12837	0.008	T	0.49437	-0.8940	8	0.87932	D	0	.	12.4936	0.55914	0.0:0.1278:0.739:0.1332	.	3407	E7ET18	.	F	3407	ENSP00000340554:S3407F	ENSP00000340554:S3407F	S	-	2	0	TTN	179329715	1.000000	0.71417	0.999000	0.59377	0.971000	0.66376	2.377000	0.44300	0.817000	0.34445	0.655000	0.94253	TCC		PASS	0.383	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		16	118	16	118	---	---	---	---
DNAH7	56171	broad.mit.edu	37	2	196688978	196688978	+	Splice_Site	SNP	C	C	T			TCGA-34-2608-01A-02D-1522-08	TCGA-34-2608-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3c90209b-b6f6-40b2-a374-6cd37d6d3895	ca1f5f6f-bef8-49af-8bd0-c8beb0c4c53b	g.chr2:196688978C>T	ENST00000312428.6	-	49	9392		c.e49+1			NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7						cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)	axonemal dynein complex (GO:0005858)|cilium (GO:0005929)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|microtubule motor activity (GO:0003777)	p.?(1)		NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						TATATACTGGCCTTTACTGAT	0.358																																						uc002utj.3																			1	Unknown(1)		lung(1)	skin(10)|ovary(2)	12						c.e49+1		dynein, axonemal, heavy chain 7							73.0	69.0	70.0					2																	196688978		1814	4088	5902	SO:0001630	splice_region_variant	56171				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr2:196688978C>T	AF327442	CCDS42794.1	2q33.1	2013-01-10	2006-09-04		ENSG00000118997	ENSG00000118997		"""Axonemal dyneins"", ""EF-hand domain containing"""	18661	protein-coding gene	gene with protein product		610061	"""dynein, axonemal, heavy polypeptide 7"""			9373155, 11877439	Standard	NM_018897		Approved	KIAA0944	uc002utj.4	Q8WXX0	OTTHUMG00000154438	ENST00000312428.6:c.9291+1G>A	2.37:g.196688978C>T							p.K3097_splice	NM_018897	NP_061720	Q8WXX0	DYH7_HUMAN			49	9392	-								B8ZZX8|O00433|O95492|Q4G152|Q53QX7|Q53S64|Q53T02|Q68CY5|Q8N1Z2|Q9UMS3|Q9Y2F3	Splice_Site	SNP	ENST00000312428.6	37	c.9291_splice	CCDS42794.1	.	.	.	.	.	.	.	.	.	.	C	13.48	2.248540	0.39797	.	.	ENSG00000118997	ENST00000312428	.	.	.	4.54	4.54	0.55810	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.4173	0.87504	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	DNAH7	196397223	1.000000	0.71417	1.000000	0.80357	0.231000	0.25187	7.077000	0.76814	2.499000	0.84300	0.585000	0.79938	.		PASS	0.358	DNAH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335202.3	NM_018897	Intron	19	145	19	145	---	---	---	---
MYL1	4632	broad.mit.edu	37	2	211163151	211163151	+	Missense_Mutation	SNP	G	G	T			TCGA-34-2608-01A-02D-1522-08	TCGA-34-2608-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3c90209b-b6f6-40b2-a374-6cd37d6d3895	ca1f5f6f-bef8-49af-8bd0-c8beb0c4c53b	g.chr2:211163151G>T	ENST00000352451.3	-	3	444	c.297C>A	c.(295-297)agC>agA	p.S99R	MYL1_ENST00000496436.1_5'UTR|MYL1_ENST00000341685.4_Missense_Mutation_p.S55R	NM_079420.2	NP_524144.1	P05976	MYL1_HUMAN	myosin, light chain 1, alkali; skeletal, fast	99					cardiac muscle contraction (GO:0060048)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)	cytosol (GO:0005829)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|sarcomere (GO:0030017)	calcium ion binding (GO:0005509)|structural constituent of muscle (GO:0008307)	p.S99R(1)		breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(5)|ovary(1)|prostate(2)|skin(1)	16				Epithelial(149;0.00573)|Lung(261;0.0422)|LUSC - Lung squamous cell carcinoma(261;0.0444)|all cancers(144;0.057)		TACCTTCATTGCTGGGGTTTC	0.478																																						uc002vec.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(295-297)AGC>AGA		fast skeletal myosin alkali light chain 1							158.0	151.0	153.0					2																	211163151		2203	4300	6503	SO:0001583	missense	4632				muscle filament sliding|muscle organ development	cytosol|muscle myosin complex|sarcomere	calcium ion binding|structural constituent of muscle	g.chr2:211163151G>T		CCDS2390.1, CCDS2391.1	2q33-q34	2013-01-10	2006-09-29		ENSG00000168530	ENSG00000168530		"""Myosins / Light chain"", ""EF-hand domain containing"""	7582	protein-coding gene	gene with protein product		160780	"""myosin, light polypeptide 1, alkali; skeletal, fast"""			2304459, 3422212	Standard	NM_079422		Approved		uc002vec.3	P05976	OTTHUMG00000132992	ENST00000352451.3:c.297C>A	2.37:g.211163151G>T	ENSP00000307280:p.Ser99Arg					MYL1_uc002veb.2_Missense_Mutation_p.S55R	p.S99R	NM_079420	NP_524144	P05976	MYL1_HUMAN		Epithelial(149;0.00573)|Lung(261;0.0422)|LUSC - Lung squamous cell carcinoma(261;0.0444)|all cancers(144;0.057)	3	426	-			99					B2R4N6|B2R4T6|P06741|Q6IBD5	Missense_Mutation	SNP	ENST00000352451.3	37	c.297C>A	CCDS2390.1	.	.	.	.	.	.	.	.	.	.	G	13.49	2.251341	0.39797	.	.	ENSG00000168530	ENST00000341685;ENST00000352451	T;T	0.79845	-1.31;-1.31	5.34	5.34	0.76211	EF-hand-like domain (1);	0.726421	0.15527	N	0.257704	T	0.72128	0.3422	L	0.33485	1.01	0.42132	D	0.99147	B;B	0.11235	0.004;0.0	B;B	0.12156	0.007;0.004	T	0.66364	-0.5942	10	0.36615	T	0.2	.	12.4525	0.55684	0.0768:0.0:0.9232:0.0	.	99;55	P05976;P05976-2	MYL1_HUMAN;.	R	55;99	ENSP00000343321:S55R;ENSP00000307280:S99R	ENSP00000343321:S55R	S	-	3	2	MYL1	210871396	0.999000	0.42202	1.000000	0.80357	0.994000	0.84299	1.374000	0.34283	2.514000	0.84764	0.585000	0.79938	AGC		PASS	0.478	MYL1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256566.2	NM_079420		21	194	21	194	---	---	---	---
TRIP12	9320	broad.mit.edu	37	2	230678590	230678590	+	Missense_Mutation	SNP	T	T	C			TCGA-34-2608-01A-02D-1522-08	TCGA-34-2608-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3c90209b-b6f6-40b2-a374-6cd37d6d3895	ca1f5f6f-bef8-49af-8bd0-c8beb0c4c53b	g.chr2:230678590T>C	ENST00000283943.5	-	12	2016	c.1838A>G	c.(1837-1839)cAt>cGt	p.H613R	TRIP12_ENST00000543084.1_Intron|TRIP12_ENST00000389044.4_Missense_Mutation_p.H661R|TRIP12_ENST00000389045.3_Missense_Mutation_p.H316R	NM_001284214.1|NM_004238.1	NP_001271143.1|NP_004229.1	Q14669	TRIPC_HUMAN	thyroid hormone receptor interactor 12	613					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|embryo development (GO:0009790)|negative regulation of double-strand break repair (GO:2000780)|negative regulation of histone H2A K63-linked ubiquitination (GO:1901315)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligase activity (GO:0016874)|thyroid hormone receptor binding (GO:0046966)|ubiquitin-protein transferase activity (GO:0004842)	p.H613R(1)		breast(2)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(19)|lung(32)|ovary(5)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116)		TTTTACCTGATGTGTTAGCCT	0.308																																						uc002vpw.1																			1	Substitution - Missense(1)		lung(1)	ovary(4)|lung(2)|breast(1)|central_nervous_system(1)|skin(1)	9						c.(1837-1839)CAT>CGT		thyroid hormone receptor interactor 12							66.0	61.0	63.0					2																	230678590		2203	4300	6503	SO:0001583	missense	9320				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	proteasome complex	thyroid hormone receptor binding|ubiquitin-protein ligase activity	g.chr2:230678590T>C	L40383	CCDS33391.1, CCDS63145.1, CCDS63146.1	2q36.3	2008-05-27			ENSG00000153827	ENSG00000153827			12306	protein-coding gene	gene with protein product		604506				7776974	Standard	XM_005246961		Approved	KIAA0045	uc002vpw.1	Q14669	OTTHUMG00000153623	ENST00000283943.5:c.1838A>G	2.37:g.230678590T>C	ENSP00000283943:p.His613Arg					TRIP12_uc002vpx.1_Missense_Mutation_p.H661R|TRIP12_uc002vpy.1_Missense_Mutation_p.H316R|TRIP12_uc010zlz.1_Intron|TRIP12_uc010fxh.1_Missense_Mutation_p.H619R	p.H613R	NM_004238	NP_004229	Q14669	TRIPC_HUMAN		Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116)	12	1947	-		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164)	613					D4HL82|Q14CA3|Q14CF1|Q15644|Q53R87|Q53TE7	Missense_Mutation	SNP	ENST00000283943.5	37	c.1838A>G	CCDS33391.1	.	.	.	.	.	.	.	.	.	.	T	12.21	1.870737	0.33069	.	.	ENSG00000153827	ENST00000283943;ENST00000389045;ENST00000389044	T;T;T	0.35048	1.33;1.33;1.33	5.75	5.75	0.90469	Armadillo-like helical (1);Armadillo-type fold (1);	0.045508	0.85682	D	0.000000	T	0.41971	0.1182	N	0.12182	0.205	0.80722	D	1	D;P;P;P	0.57899	0.981;0.932;0.932;0.932	D;P;P;P	0.69824	0.966;0.888;0.888;0.888	T	0.41752	-0.9491	10	0.35671	T	0.21	.	16.0986	0.81148	0.0:0.0:0.0:1.0	.	619;316;661;613	D4HL82;Q14CF1;Q14CA3;Q14669	.;.;.;TRIPC_HUMAN	R	613;316;661	ENSP00000283943:H613R;ENSP00000373697:H316R;ENSP00000373696:H661R	ENSP00000283943:H613R	H	-	2	0	TRIP12	230386834	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	8.008000	0.88588	2.201000	0.70794	0.451000	0.29950	CAT		PASS	0.308	TRIP12-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000331861.3	NM_004238		12	86	12	86	---	---	---	---
TTLL3	26140	broad.mit.edu	37	3	9859359	9859359	+	Missense_Mutation	SNP	C	C	T			TCGA-34-2608-01A-02D-1522-08	TCGA-34-2608-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3c90209b-b6f6-40b2-a374-6cd37d6d3895	ca1f5f6f-bef8-49af-8bd0-c8beb0c4c53b	g.chr3:9859359C>T	ENST00000547186.1	+	5	562	c.346C>T	c.(346-348)Ccg>Tcg	p.P116S	TTLL3_ENST00000427853.3_5'UTR|TTLL3_ENST00000455274.1_5'Flank|TTLL3_ENST00000397241.1_5'UTR|TTLL3_ENST00000426895.4_Missense_Mutation_p.P259S|ARPC4-TTLL3_ENST00000397256.1_Missense_Mutation_p.P210S|TTLL3_ENST00000430793.1_5'Flank|TTLL3_ENST00000383827.1_5'Flank	NM_001025930.3	NP_001021100.3	Q9Y4R7	TTLL3_HUMAN	tubulin tyrosine ligase-like family, member 3	116					axoneme assembly (GO:0035082)|cilium assembly (GO:0042384)|protein polyglycylation (GO:0018094)	axoneme (GO:0005930)|cilium (GO:0005929)|microtubule (GO:0005874)|microtubule cytoskeleton (GO:0015630)	protein-glycine ligase activity (GO:0070735)|protein-glycine ligase activity, initiating (GO:0070736)	p.P116S(1)		central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(2)|skin(1)	26	Medulloblastoma(99;0.227)					CCGGAATTTGCCGTGGTTTGA	0.547																																						uc003btg.2																			1	Substitution - Missense(1)		lung(1)	large_intestine(2)	2						c.(346-348)CCG>TCG		tubulin tyrosine ligase-like family, member 3							170.0	158.0	162.0					3																	9859359		2057	4209	6266	SO:0001583	missense	26140				axoneme assembly|cilium assembly|protein polyglycylation	cilium axoneme|cytoplasm|microtubule	protein-glycine ligase activity, initiating|tubulin-tyrosine ligase activity	g.chr3:9859359C>T		CCDS43048.1, CCDS43048.2	3p25.3	2013-02-14			ENSG00000214021	ENSG00000214021		"""Tubulin tyrosine ligase-like family"""	24483	protein-coding gene	gene with protein product						11054573	Standard	NR_037162		Approved	DKFZP434B103, HOTTL	uc003btg.4	Q9Y4R7	OTTHUMG00000128439	ENST00000547186.1:c.346C>T	3.37:g.9859359C>T	ENSP00000446659:p.Pro116Ser					ARPC4_uc003btc.1_Intron|TTLL3_uc003btd.3_Missense_Mutation_p.P116S|TTLL3_uc003btf.3_5'UTR|TTLL3_uc010hco.1_Missense_Mutation_p.P52S|TTLL3_uc003bth.3_5'UTR|TTLL3_uc011atj.1_Missense_Mutation_p.P52S|TTLL3_uc003btj.3_5'UTR|TTLL3_uc003bti.3_5'UTR	p.P116S	NM_001025930	NP_001021100	Q9Y4R7	TTLL3_HUMAN			5	562	+	Medulloblastoma(99;0.227)		116					Q4KMS8|Q6AWA3|Q6ZU95|Q8NDN8|Q96GG8|Q9H876|Q9UI99	Missense_Mutation	SNP	ENST00000547186.1	37	c.346C>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	20.5|20.5	3.999438|3.999438	0.74818|0.74818	.|.	.|.	ENSG00000214021|ENSG00000250151;ENSG00000214021;ENSG00000214021;ENSG00000214021;ENSG00000214021;ENSG00000214021	ENST00000310252;ENST00000452823|ENST00000397256;ENST00000417065;ENST00000426895;ENST00000547186;ENST00000426827;ENST00000443148	.|T;T;T;T;T;T	.|0.42131	.|3.56;0.98;3.53;3.71;3.19;3.76	5.06|5.06	5.06|5.06	0.68205|0.68205	.|.	.|1.037930	.|0.07660	.|U	.|0.933401	T|T	0.49304|0.49304	0.1549|0.1549	M|M	0.71581|0.71581	2.175|2.175	0.80722|0.80722	D|D	1|1	.|B;B	.|0.18310	.|0.017;0.027	.|B;B	.|0.20577	.|0.03;0.03	T|T	0.40421|0.40421	-0.9564|-0.9564	5|10	.|0.21540	.|T	.|0.41	.|.	18.0543|18.0543	0.89360|0.89360	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|55;116	.|B4DM47;Q9Y4R7	.|.;TTLL3_HUMAN	V|S	71;66|210;116;259;116;159;54	.|ENSP00000380427:P210S;ENSP00000408128:P116S;ENSP00000392549:P259S;ENSP00000446659:P116S;ENSP00000389904:P159S;ENSP00000398097:P54S	.|ENSP00000380427:P210S	A|P	+|+	2|1	0|0	TTLL3|ARPC4-TTLL3;TTLL3	9834359|9834359	1.000000|1.000000	0.71417|0.71417	0.986000|0.986000	0.45419|0.45419	0.986000|0.986000	0.74619|0.74619	5.259000|5.259000	0.65485|0.65485	2.344000|2.344000	0.79699|0.79699	0.591000|0.591000	0.81541|0.81541	GCC|CCG		PASS	0.547	TTLL3-203	KNOWN	basic	protein_coding	protein_coding		NM_001025930.2		5	321	5	321	---	---	---	---
KCNH8	131096	broad.mit.edu	37	3	19295336	19295336	+	Silent	SNP	G	G	A			TCGA-34-2608-01A-02D-1522-08	TCGA-34-2608-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3c90209b-b6f6-40b2-a374-6cd37d6d3895	ca1f5f6f-bef8-49af-8bd0-c8beb0c4c53b	g.chr3:19295336G>A	ENST00000328405.2	+	2	533	c.267G>A	c.(265-267)gaG>gaA	p.E89E		NM_144633.2	NP_653234.2	Q96L42	KCNH8_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 8	89	PAS.				potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	phosphorelay sensor kinase activity (GO:0000155)|voltage-gated potassium channel activity (GO:0005249)	p.E89E(1)		NS(1)|breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(3)|lung(37)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	77						CACTGGAGGAGAAAACAGAAT	0.418																																					NSCLC(124;1625 1765 8018 24930 42026)	uc003cbk.1																			1	Substitution - coding silent(1)		lung(1)	lung(4)|ovary(1)	5						c.(265-267)GAG>GAA		potassium voltage-gated channel, subfamily H,							91.0	101.0	98.0					3																	19295336		2203	4300	6503	SO:0001819	synonymous_variant	131096					integral to membrane	two-component sensor activity	g.chr3:19295336G>A	AY053503	CCDS2632.1	3p24.3	2012-07-05			ENSG00000183960	ENSG00000183960		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	18864	protein-coding gene	gene with protein product		608260				16382104	Standard	NM_144633		Approved	Kv12.1, elk3	uc003cbk.1	Q96L42	OTTHUMG00000129891	ENST00000328405.2:c.267G>A	3.37:g.19295336G>A						KCNH8_uc011awe.1_Silent_p.E89E|KCNH8_uc010hex.1_5'UTR	p.E89E	NM_144633	NP_653234	Q96L42	KCNH8_HUMAN			2	462	+			89			Cytoplasmic (Potential).|PAS.		B7Z2I7|Q59GQ6	Silent	SNP	ENST00000328405.2	37	c.267G>A	CCDS2632.1																																																																																				PASS	0.418	KCNH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252139.2	NM_144633		24	224	24	224	---	---	---	---
SACM1L	22908	broad.mit.edu	37	3	45781107	45781107	+	Missense_Mutation	SNP	C	C	T			TCGA-34-2608-01A-02D-1522-08	TCGA-34-2608-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3c90209b-b6f6-40b2-a374-6cd37d6d3895	ca1f5f6f-bef8-49af-8bd0-c8beb0c4c53b	g.chr3:45781107C>T	ENST00000389061.5	+	19	1802	c.1598C>T	c.(1597-1599)tCa>tTa	p.S533L	SACM1L_ENST00000418611.1_Missense_Mutation_p.S430L|SACM1L_ENST00000541314.1_Missense_Mutation_p.S472L	NM_014016.3	NP_054735.3	Q9NTJ5	SAC1_HUMAN	SAC1 suppressor of actin mutations 1-like (yeast)	533					phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of endoplasmic reticulum membrane (GO:0030176)	phosphatase activity (GO:0016791)|phosphatidylinositol bisphosphate phosphatase activity (GO:0034593)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphatidylinositol-4-phosphate phosphatase activity (GO:0043812)	p.S533L(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)	23				BRCA - Breast invasive adenocarcinoma(193;0.0102)|KIRC - Kidney renal clear cell carcinoma(197;0.0234)|Kidney(197;0.0277)		GTTGCCTTTTCAATGTGCATT	0.353																																						uc003cos.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1597-1599)TCA>TTA		suppressor of actin 1							422.0	359.0	380.0					3																	45781107		2203	4299	6502	SO:0001583	missense	22908					Golgi apparatus		g.chr3:45781107C>T	AB020658	CCDS33745.1	3p21.3	2010-03-11			ENSG00000211456	ENSG00000211456			17059	protein-coding gene	gene with protein product		606569				10048485, 11352561	Standard	NM_014016		Approved	SAC1, KIAA0851	uc003cos.2	Q9NTJ5	OTTHUMG00000156653	ENST00000389061.5:c.1598C>T	3.37:g.45781107C>T	ENSP00000373713:p.Ser533Leu					SACM1L_uc011bag.1_Missense_Mutation_p.S430L|SACM1L_uc011bah.1_Missense_Mutation_p.S467L|SACM1L_uc003cot.2_Missense_Mutation_p.S176L	p.S533L	NM_014016	NP_054735	Q9NTJ5	SAC1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.0102)|KIRC - Kidney renal clear cell carcinoma(197;0.0234)|Kidney(197;0.0277)	19	1802	+			533			Helical; (Potential).		A8K527|B4DK71|O94935|Q7LA14|Q7LA22|Q96AX7|Q9NQ46|Q9NQ57	Missense_Mutation	SNP	ENST00000389061.5	37	c.1598C>T	CCDS33745.1	.	.	.	.	.	.	.	.	.	.	C	34	5.309082	0.95629	.	.	ENSG00000211456	ENST00000418611;ENST00000389061;ENST00000541314	T;T;T	0.08546	3.08;3.08;3.08	6.02	6.02	0.97574	.	0.000000	0.85682	D	0.000000	T	0.18045	0.0433	L	0.43598	1.365	0.80722	D	1	P;P;P	0.51351	0.454;0.944;0.822	B;P;P	0.56700	0.235;0.804;0.714	T	0.03306	-1.1050	10	0.12103	T	0.63	-3.2206	20.547	0.99278	0.0:1.0:0.0:0.0	.	472;176;533	B4DK71;B3KX17;Q9NTJ5	.;.;SAC1_HUMAN	L	430;533;472	ENSP00000396387:S430L;ENSP00000373713:S533L;ENSP00000443373:S472L	ENSP00000373713:S533L	S	+	2	0	SACM1L	45756111	1.000000	0.71417	0.997000	0.53966	0.996000	0.88848	7.294000	0.78760	2.850000	0.98022	0.650000	0.86243	TCA		PASS	0.353	SACM1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345065.2	NM_014016		44	318	44	318	---	---	---	---
HYAL3	8372	broad.mit.edu	37	3	50332932	50332932	+	Silent	SNP	C	C	T			TCGA-34-2608-01A-02D-1522-08	TCGA-34-2608-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3c90209b-b6f6-40b2-a374-6cd37d6d3895	ca1f5f6f-bef8-49af-8bd0-c8beb0c4c53b	g.chr3:50332932C>T	ENST00000336307.1	-	2	374	c.102G>A	c.(100-102)ctG>ctA	p.L34L	IFRD2_ENST00000436390.1_5'Flank|IFRD2_ENST00000417626.2_5'Flank|IFRD2_ENST00000336089.4_5'Flank|HYAL3_ENST00000359051.3_Silent_p.L34L|HYAL3_ENST00000450982.1_Silent_p.L34L|HYAL3_ENST00000513170.1_Intron|HYAL3_ENST00000415204.1_Intron	NM_001200029.1|NM_003549.3	NP_001186958.1|NP_003540.2	O43820	HYAL3_HUMAN	hyaluronoglucosaminidase 3	34					carbohydrate metabolic process (GO:0005975)|cartilage development (GO:0051216)|cellular response to interleukin-1 (GO:0071347)|cellular response to tumor necrosis factor (GO:0071356)|cellular response to UV-B (GO:0071493)|hyaluronan catabolic process (GO:0030214)|inflammatory response (GO:0006954)|response to antibiotic (GO:0046677)|response to virus (GO:0009615)	cytoplasmic vesicle (GO:0031410)|extracellular region (GO:0005576)|lysosome (GO:0005764)	hyaluronoglucuronidase activity (GO:0033906)|hyalurononglucosaminidase activity (GO:0004415)	p.L34L(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|lung(5)|ovary(3)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	19				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		GTACATTCCACAGCACAGAGA	0.627																																						uc003czd.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(100-102)CTG>CTA		hyaluronoglucosaminidase 3 precursor							68.0	64.0	65.0					3																	50332932		2196	4278	6474	SO:0001819	synonymous_variant	8372				carbohydrate metabolic process	extracellular region|lysosome	hyalurononglucosaminidase activity	g.chr3:50332932C>T	AF040710	CCDS2815.1, CCDS56259.1, CCDS56260.1, CCDS56257.1	3p21.3	2004-03-12			ENSG00000186792	ENSG00000186792			5322	protein-coding gene	gene with protein product		604038				10493834	Standard	NM_003549		Approved	LUCA-3, LUCA14, Minna14	uc021wyn.1	O43820	OTTHUMG00000156936	ENST00000336307.1:c.102G>A	3.37:g.50332932C>T						HYAL3_uc003czc.1_Silent_p.L34L|HYAL3_uc003cze.1_Intron|HYAL3_uc003czf.1_Intron|HYAL3_uc003czg.1_Silent_p.L34L	p.L34L	NM_003549	NP_003540	O43820	HYAL3_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)	2	375	-			34					O60540|Q8NFK2|Q8NFK3|Q8NFK4|Q96E56|Q9BRW9	Silent	SNP	ENST00000336307.1	37	c.102G>A	CCDS2815.1																																																																																				PASS	0.627	HYAL3-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	protein_coding	protein_coding	OTTHUMT00000346664.1	NM_003549		20	90	20	90	---	---	---	---
MYH15	22989	broad.mit.edu	37	3	108147461	108147461	+	Missense_Mutation	SNP	C	C	G			TCGA-34-2608-01A-02D-1522-08	TCGA-34-2608-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3c90209b-b6f6-40b2-a374-6cd37d6d3895	ca1f5f6f-bef8-49af-8bd0-c8beb0c4c53b	g.chr3:108147461C>G	ENST00000273353.3	-	28	3696	c.3640G>C	c.(3640-3642)Gag>Cag	p.E1214Q		NM_014981.1	NP_055796.1	Q9Y2K3	MYH15_HUMAN	myosin, heavy chain 15	1214						cytoplasm (GO:0005737)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)	p.E1214Q(1)		NS(1)|breast(3)|central_nervous_system(2)|cervix(4)|endometrium(10)|kidney(4)|large_intestine(14)|lung(47)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	105						CCCTCGAGCTCAGCCAGGCTG	0.493																																						uc003dxa.1																			1	Substitution - Missense(1)		lung(1)	ovary(5)|central_nervous_system(2)	7						c.(3640-3642)GAG>CAG		myosin, heavy polypeptide 15							141.0	132.0	135.0					3																	108147461		1933	4148	6081	SO:0001583	missense	22989					myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity	g.chr3:108147461C>G	AB023217	CCDS43127.1	3q13	2011-09-27	2006-09-29		ENSG00000144821	ENSG00000144821		"""Myosins / Myosin superfamily : Class II"""	31073	protein-coding gene	gene with protein product		609929	"""myosin, heavy polypeptide 15"""			15014174, 15042088	Standard	NM_014981		Approved	KIAA1000	uc003dxa.1	Q9Y2K3	OTTHUMG00000159226	ENST00000273353.3:c.3640G>C	3.37:g.108147461C>G	ENSP00000273353:p.Glu1214Gln						p.E1214Q	NM_014981	NP_055796	Q9Y2K3	MYH15_HUMAN			28	3697	-			1214			Potential.			Missense_Mutation	SNP	ENST00000273353.3	37	c.3640G>C	CCDS43127.1	.	.	.	.	.	.	.	.	.	.	C	12.99	2.103060	0.37145	.	.	ENSG00000144821	ENST00000273353	D	0.83419	-1.72	5.37	2.64	0.31445	Myosin tail (1);	.	.	.	.	D	0.90442	0.7007	M	0.86343	2.81	0.42253	D	0.99198	D	0.63880	0.993	D	0.69654	0.965	D	0.89990	0.4107	9	0.87932	D	0	.	10.5166	0.44894	0.0:0.791:0.0:0.209	.	1214	Q9Y2K3	MYH15_HUMAN	Q	1214	ENSP00000273353:E1214Q	ENSP00000273353:E1214Q	E	-	1	0	MYH15	109630151	0.953000	0.32496	0.000000	0.03702	0.018000	0.09664	2.188000	0.42612	0.358000	0.24211	-0.142000	0.14014	GAG		PASS	0.493	MYH15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353935.1	XM_036988		32	226	32	226	---	---	---	---
KIAA1524	57650	broad.mit.edu	37	3	108276190	108276190	+	Silent	SNP	C	C	A	rs62638702	byFrequency	TCGA-34-2608-01A-02D-1522-08	TCGA-34-2608-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3c90209b-b6f6-40b2-a374-6cd37d6d3895	ca1f5f6f-bef8-49af-8bd0-c8beb0c4c53b	g.chr3:108276190C>A	ENST00000295746.8	-	17	2161	c.2085G>T	c.(2083-2085)gcG>gcT	p.A695A	KIAA1524_ENST00000491772.1_Silent_p.A536A	NM_020890.2	NP_065941.2	Q8TCG1	CIP2A_HUMAN	KIAA1524	695					positive regulation of neural precursor cell proliferation (GO:2000179)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.A695A(1)		NS(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(21)|ovary(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						CAACTTGCTGCGCCTTCAGCA	0.388																																						uc003dxb.3																			1	Substitution - coding silent(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(2083-2085)GCG>GCT		p90 autoantigen							142.0	129.0	133.0					3																	108276190		2201	4300	6501	SO:0001819	synonymous_variant	57650					cytoplasm|integral to membrane	protein binding	g.chr3:108276190C>A	AB040957	CCDS33812.1	3q13.13	2014-01-14			ENSG00000163507	ENSG00000163507			29302	protein-coding gene	gene with protein product	"""cancerous inhibitor of protein phosphatase 2A"""	610643				10819331, 24214971	Standard	NM_020890		Approved	CIP2A	uc003dxb.4	Q8TCG1	OTTHUMG00000159233	ENST00000295746.8:c.2085G>T	3.37:g.108276190C>A							p.A695A	NM_020890	NP_065941	Q8TCG1	CIP2A_HUMAN			17	2354	-			695			Potential.		A1L4J7|B9EGC3|Q6P4G6|Q8WVP8|Q96PI2|Q9H9C6|Q9P204	Silent	SNP	ENST00000295746.8	37	c.2085G>T	CCDS33812.1																																																																																				PASS	0.388	KIAA1524-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353975.2	NM_020890		3	162	3	162	---	---	---	---
DPPA4	55211	broad.mit.edu	37	3	109052761	109052761	+	Nonsense_Mutation	SNP	G	G	T			TCGA-34-2608-01A-02D-1522-08	TCGA-34-2608-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3c90209b-b6f6-40b2-a374-6cd37d6d3895	ca1f5f6f-bef8-49af-8bd0-c8beb0c4c53b	g.chr3:109052761G>T	ENST00000335658.6	-	2	188	c.134C>A	c.(133-135)tCa>tAa	p.S45*	DPPA4_ENST00000478791.1_5'UTR	NM_018189.3	NP_060659.3	Q7L190	DPPA4_HUMAN	developmental pluripotency associated 4	45					lung-associated mesenchyme development (GO:0060484)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)		p.S45*(1)		central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(17)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	25						TCTCTTTGCTGATGTTCCTGG	0.458																																						uc003dxq.3																			1	Substitution - Nonsense(1)		lung(1)	upper_aerodigestive_tract(1)	1						c.(133-135)TCA>TAA		developmental pluripotency associated 4							197.0	187.0	190.0					3																	109052761		2203	4300	6503	SO:0001587	stop_gained	55211					nucleus	protein binding	g.chr3:109052761G>T	AK001575	CCDS33814.1	3q13.13	2014-01-28			ENSG00000121570	ENSG00000121570			19200	protein-coding gene	gene with protein product		614125					Standard	NM_018189		Approved	FLJ10713	uc003dxq.4	Q7L190	OTTHUMG00000159222	ENST00000335658.6:c.134C>A	3.37:g.109052761G>T	ENSP00000335306:p.Ser45*					DPPA4_uc011bho.1_Nonsense_Mutation_p.S45*|DPPA4_uc011bhp.1_Nonsense_Mutation_p.S45*	p.S45*	NM_018189	NP_060659	Q7L190	DPPA4_HUMAN			2	189	-			45					A8K4M7|Q9H9N5|Q9NVI6	Nonsense_Mutation	SNP	ENST00000335658.6	37	c.134C>A	CCDS33814.1	.	.	.	.	.	.	.	.	.	.	G	13.01	2.108821	0.37242	.	.	ENSG00000121570	ENST00000335658	.	.	.	3.77	-0.609	0.11608	.	3.690600	0.01201	N	0.007574	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.2668	1.8805	0.03227	0.1112:0.156:0.3587:0.3741	.	.	.	.	X	45	.	.	S	-	2	0	DPPA4	110535451	0.001000	0.12720	0.000000	0.03702	0.019000	0.09904	0.677000	0.25262	-0.111000	0.12001	0.551000	0.68910	TCA		PASS	0.458	DPPA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353897.1	NM_018189		36	231	36	231	---	---	---	---
KLF15	28999	broad.mit.edu	37	3	126062578	126062578	+	Missense_Mutation	SNP	C	C	T			TCGA-34-2608-01A-02D-1522-08	TCGA-34-2608-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3c90209b-b6f6-40b2-a374-6cd37d6d3895	ca1f5f6f-bef8-49af-8bd0-c8beb0c4c53b	g.chr3:126062578C>T	ENST00000296233.3	-	3	1473	c.1243G>A	c.(1243-1245)Gtg>Atg	p.V415M		NM_014079.3	NP_054798.1	Q9UIH9	KLF15_HUMAN	Kruppel-like factor 15	415					cardiac muscle hypertrophy in response to stress (GO:0014898)|cellular response to peptide (GO:1901653)|glial cell differentiation (GO:0010001)|glomerular visceral epithelial cell differentiation (GO:0072112)|glucose transport (GO:0015758)|negative regulation of peptidyl-lysine acetylation (GO:2000757)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleus (GO:0005634)	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)|transcription regulatory region DNA binding (GO:0044212)	p.V415M(1)		endometrium(1)|lung(7)|ovary(2)|skin(2)	12				GBM - Glioblastoma multiforme(114;0.147)		TTTCAGTTCACGGAGCGCACG	0.597																																						uc011bkk.1																			1	Substitution - Missense(1)		lung(1)	lung(1)	1						c.(1243-1245)GTG>ATG		Kruppel-like factor 15							48.0	54.0	52.0					3																	126062578		2203	4300	6503	SO:0001583	missense	28999					nucleus	DNA binding|zinc ion binding	g.chr3:126062578C>T	AB029254	CCDS3036.1	3q21.3	2013-01-08			ENSG00000163884	ENSG00000163884		"""Kruppel-like transcription factors"", ""Zinc fingers, C2H2-type"""	14536	protein-coding gene	gene with protein product	"""kidney-enriched Kruppel-like factor"""	606465				10982849	Standard	NM_014079		Approved	KKLF	uc011bkk.1	Q9UIH9	OTTHUMG00000162689	ENST00000296233.3:c.1243G>A	3.37:g.126062578C>T	ENSP00000296233:p.Val415Met						p.V415M	NM_014079	NP_054798	Q9UIH9	KLF15_HUMAN		GBM - Glioblastoma multiforme(114;0.147)	3	1425	-			415						Missense_Mutation	SNP	ENST00000296233.3	37	c.1243G>A	CCDS3036.1	.	.	.	.	.	.	.	.	.	.	C	12.35	1.911072	0.33721	.	.	ENSG00000163884	ENST00000296233	T	0.08102	3.13	5.04	2.17	0.27698	.	0.713264	0.13176	N	0.407855	T	0.04363	0.0120	N	0.14661	0.345	0.09310	N	1	B	0.16396	0.017	B	0.09377	0.004	T	0.41197	-0.9522	10	0.66056	D	0.02	.	1.6306	0.02732	0.1692:0.4762:0.1646:0.1899	.	415	Q9UIH9	KLF15_HUMAN	M	415	ENSP00000296233:V415M	ENSP00000296233:V415M	V	-	1	0	KLF15	127545268	0.001000	0.12720	0.000000	0.03702	0.277000	0.26821	1.019000	0.30014	0.138000	0.18790	-0.339000	0.08088	GTG		PASS	0.597	KLF15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370096.1	NM_014079		9	106	9	106	---	---	---	---
RAB6B	51560	broad.mit.edu	37	3	133560150	133560150	+	Missense_Mutation	SNP	C	C	T			TCGA-34-2608-01A-02D-1522-08	TCGA-34-2608-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3c90209b-b6f6-40b2-a374-6cd37d6d3895	ca1f5f6f-bef8-49af-8bd0-c8beb0c4c53b	g.chr3:133560150C>T	ENST00000285208.4	-	4	617	c.268G>A	c.(268-270)Gtg>Atg	p.V90M	RAB6B_ENST00000543906.1_Missense_Mutation_p.V90M|RAB6B_ENST00000469959.1_Intron|RAB6B_ENST00000486858.1_Missense_Mutation_p.V77M	NM_016577.3	NP_057661.3	Q9NRW1	RAB6B_HUMAN	RAB6B, member RAS oncogene family	90					GTP catabolic process (GO:0006184)|protein transport (GO:0015031)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|small GTPase mediated signal transduction (GO:0007264)	cytoplasmic vesicle (GO:0031410)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|myosin V binding (GO:0031489)	p.V90M(1)		NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|pancreas(1)	11						TACACCACCACAGCCACCGTG	0.637																																						uc003epy.2																			1	Substitution - Missense(1)		lung(1)	pancreas(1)	1						c.(268-270)GTG>ATG		RAB6B, member RAS oncogene family							124.0	103.0	111.0					3																	133560150		2203	4300	6503	SO:0001583	missense	51560				protein transport|retrograde vesicle-mediated transport, Golgi to ER|small GTPase mediated signal transduction	cytoplasmic membrane-bounded vesicle|Golgi membrane	GTP binding|GTPase activity|protein binding	g.chr3:133560150C>T	AF166492	CCDS3082.1	3q22.1	2008-05-15			ENSG00000154917	ENSG00000154917		"""RAB, member RAS oncogene"""	14902	protein-coding gene	gene with protein product		615852					Standard	NM_016577		Approved		uc003epy.3	Q9NRW1	OTTHUMG00000159749	ENST00000285208.4:c.268G>A	3.37:g.133560150C>T	ENSP00000285208:p.Val90Met					RAB6B_uc011blu.1_Missense_Mutation_p.V77M	p.V90M	NM_016577	NP_057661	Q9NRW1	RAB6B_HUMAN			4	649	-			90					B2R5Z9|B7Z337|D3DND3|Q92929	Missense_Mutation	SNP	ENST00000285208.4	37	c.268G>A	CCDS3082.1	.	.	.	.	.	.	.	.	.	.	C	26.1	4.708101	0.89018	.	.	ENSG00000154917	ENST00000285208;ENST00000543906;ENST00000486858;ENST00000477759;ENST00000460865	D;D;D;D;T	0.82167	-1.58;-1.58;-1.58;-1.58;-1.06	4.7	4.7	0.59300	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.89431	0.6713	L	0.60845	1.875	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.996;0.999	D	0.90701	0.4620	10	0.87932	D	0	-9.8413	16.7699	0.85534	0.0:1.0:0.0:0.0	.	77;90	B7Z337;Q9NRW1	.;RAB6B_HUMAN	M	90;90;77;57;36	ENSP00000285208:V90M;ENSP00000437797:V90M;ENSP00000419381:V77M;ENSP00000419941:V57M;ENSP00000419526:V36M	ENSP00000285208:V90M	V	-	1	0	RAB6B	135042840	1.000000	0.71417	0.997000	0.53966	0.988000	0.76386	7.180000	0.77674	2.303000	0.77524	0.462000	0.41574	GTG		PASS	0.637	RAB6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357152.1			43	122	43	122	---	---	---	---
STAG1	10274	broad.mit.edu	37	3	136221539	136221539	+	Silent	SNP	G	G	A	rs113504457	byFrequency	TCGA-34-2608-01A-02D-1522-08	TCGA-34-2608-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3c90209b-b6f6-40b2-a374-6cd37d6d3895	ca1f5f6f-bef8-49af-8bd0-c8beb0c4c53b	g.chr3:136221539G>A	ENST00000383202.2	-	8	1015	c.759C>T	c.(757-759)gcC>gcT	p.A253A	STAG1_ENST00000236698.5_Silent_p.A253A|STAG1_ENST00000434713.2_Silent_p.A27A	NM_005862.2	NP_005853.2	Q8WVM7	STAG1_HUMAN	stromal antigen 1	253					chromosome segregation (GO:0007059)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	cell junction (GO:0030054)|chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)	p.A253A(1)		NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(16)|lung(16)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58						TATTTCTCTCGGCTTCATATT	0.383																																						uc003era.1																			1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(757-759)GCC>GCT		stromal antigen 1		G		1,4405	2.1+/-5.4	0,1,2202	143.0	135.0	138.0		759	-7.6	1.0	3	dbSNP_132	138	0,8600		0,0,4300	no	coding-synonymous	STAG1	NM_005862.2		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		253/1259	136221539	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	10274				cell division|chromosome segregation|mitotic metaphase/anaphase transition|mitotic prometaphase	cell junction|chromatin|chromosome, centromeric region|nucleoplasm	protein binding	g.chr3:136221539G>A	Z75330	CCDS3090.1	3q22.2-q22.3	2011-08-12			ENSG00000118007	ENSG00000118007			11354	protein-coding gene	gene with protein product		604358				9305759	Standard	XM_006713471		Approved	SA-1, SCC3A	uc003era.1	Q8WVM7	OTTHUMG00000159798	ENST00000383202.2:c.759C>T	3.37:g.136221539G>A						STAG1_uc003erb.1_Silent_p.A253A|STAG1_uc003erc.1_Silent_p.A27A|STAG1_uc010hua.1_Silent_p.A116A|STAG1_uc003erd.2_Silent_p.A156A	p.A253A	NM_005862	NP_005853	Q8WVM7	STAG1_HUMAN			8	1051	-			253					O00539|Q6P275	Silent	SNP	ENST00000383202.2	37	c.759C>T	CCDS3090.1																																																																																				PASS	0.383	STAG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357366.1	NM_005862		17	264	17	264	---	---	---	---
WDR1	9948	broad.mit.edu	37	4	10080565	10080565	+	Nonsense_Mutation	SNP	C	C	A			TCGA-34-2608-01A-02D-1522-08	TCGA-34-2608-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3c90209b-b6f6-40b2-a374-6cd37d6d3895	ca1f5f6f-bef8-49af-8bd0-c8beb0c4c53b	g.chr4:10080565C>A	ENST00000499869.2	-	12	1538	c.1345G>T	c.(1345-1347)Gaa>Taa	p.E449*	WDR1_ENST00000382451.2_Nonsense_Mutation_p.E309*|WDR1_ENST00000515743.1_5'UTR|WDR1_ENST00000502702.1_Nonsense_Mutation_p.E309*|MIR3138_ENST00000585238.1_RNA|WDR1_ENST00000382452.2_Nonsense_Mutation_p.E449*			O75083	WDR1_HUMAN	WD repeat domain 1	449					blood coagulation (GO:0007596)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|sensory perception of sound (GO:0007605)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)		p.E449*(1)|p.E450*(1)		endometrium(3)|lung(5)|ovary(2)|pancreas(1)|urinary_tract(1)	12				STAD - Stomach adenocarcinoma(129;0.000703)|Colorectal(103;0.0057)|LUSC - Lung squamous cell carcinoma(721;0.0232)		GCCACAACTTCGGGCTCGTAG	0.612																																						uc003gmf.2																			2	Substitution - Nonsense(2)		lung(2)	ovary(2)|pancreas(1)	3						c.(1345-1347)GAA>TAA		WD repeat-containing protein 1 isoform 1							73.0	89.0	84.0					4																	10080565		2012	4171	6183	SO:0001587	stop_gained	9948				platelet activation|platelet degranulation|sensory perception of sound	cytoskeleton|cytosol|extracellular region	actin binding	g.chr4:10080565C>A	AF020260	CCDS54739.1, CCDS54740.1	4p16.1	2013-01-09			ENSG00000071127	ENSG00000071127		"""WD repeat domain containing"""	12754	protein-coding gene	gene with protein product		604734				10036186	Standard	NM_017491		Approved		uc021xlv.1	O75083	OTTHUMG00000160253	ENST00000499869.2:c.1345G>T	4.37:g.10080565C>A	ENSP00000427687:p.Glu449*					WDR1_uc003gmg.2_Nonsense_Mutation_p.E309*|WDR1_uc010idm.2_RNA|hsa-mir-3138|MI0014161_5'Flank	p.E449*	NM_017491	NP_059830	O75083	WDR1_HUMAN		STAD - Stomach adenocarcinoma(129;0.000703)|Colorectal(103;0.0057)|LUSC - Lung squamous cell carcinoma(721;0.0232)	12	1628	-			449			WD 8.		A8K6E9|A8MPU4|O75313|Q8N6E5|Q9UG05|Q9UG78|Q9UQE0	Nonsense_Mutation	SNP	ENST00000499869.2	37	c.1345G>T	CCDS54740.1	.	.	.	.	.	.	.	.	.	.	C	37	6.610401	0.97705	.	.	ENSG00000071127	ENST00000499869;ENST00000382452;ENST00000382451;ENST00000502702;ENST00000439733	.	.	.	4.75	4.75	0.60458	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.24483	T	0.36	-29.4997	16.6594	0.85237	0.0:1.0:0.0:0.0	.	.	.	.	X	449;449;309;309;284	.	ENSP00000371889:E309X	E	-	1	0	WDR1	9689663	1.000000	0.71417	0.057000	0.19452	0.155000	0.21991	6.406000	0.73276	2.348000	0.79779	0.462000	0.41574	GAA		PASS	0.612	WDR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359877.1			7	79	7	79	---	---	---	---
GPR125	166647	broad.mit.edu	37	4	22414850	22414850	+	Silent	SNP	G	G	A			TCGA-34-2608-01A-02D-1522-08	TCGA-34-2608-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3c90209b-b6f6-40b2-a374-6cd37d6d3895	ca1f5f6f-bef8-49af-8bd0-c8beb0c4c53b	g.chr4:22414850G>A	ENST00000334304.5	-	14	2456	c.2187C>T	c.(2185-2187)atC>atT	p.I729I	GPR125_ENST00000282943.5_5'UTR	NM_145290.3	NP_660333.2	Q8IWK6	GP125_HUMAN	G protein-coupled receptor 125	729	GPS. {ECO:0000255|PROSITE- ProRule:PRU00098}.				G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)	G-protein coupled receptor activity (GO:0004930)	p.I729I(1)		breast(1)|endometrium(6)|kidney(2)|large_intestine(10)|lung(33)|pancreas(1)|skin(1)|stomach(1)|urinary_tract(1)	56		Breast(46;0.198)				GAATCGTAGTGATATTTTCAT	0.413																																						uc003gqm.1																			1	Substitution - coding silent(1)		lung(1)	skin(1)	1						c.(2185-2187)ATC>ATT		G protein-coupled receptor 125 precursor							213.0	211.0	212.0					4																	22414850		2203	4300	6503	SO:0001819	synonymous_variant	166647				neuropeptide signaling pathway	integral to membrane	G-protein coupled receptor activity	g.chr4:22414850G>A	AK095866	CCDS33964.1	4p15.31	2014-08-08			ENSG00000152990	ENSG00000152990		"""-"", ""GPCR / Class B : Orphans"", ""Immunoglobulin superfamily / I-set domain containing"""	13839	protein-coding gene	gene with protein product		612303				12565841	Standard	NM_145290		Approved	FLJ38547, PGR21	uc003gqm.2	Q8IWK6	OTTHUMG00000160926	ENST00000334304.5:c.2187C>T	4.37:g.22414850G>A						GPR125_uc010ieo.1_Silent_p.I585I	p.I729I	NM_145290	NP_660333	Q8IWK6	GP125_HUMAN			14	2452	-		Breast(46;0.198)	729			Extracellular (Potential).|GPS.		Q6UXK9|Q86SQ5|Q8TC55	Silent	SNP	ENST00000334304.5	37	c.2187C>T	CCDS33964.1																																																																																				PASS	0.413	GPR125-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362960.3			27	391	27	391	---	---	---	---
EPHA5	2044	broad.mit.edu	37	4	66270100	66270100	+	Silent	SNP	G	G	A			TCGA-34-2608-01A-02D-1522-08	TCGA-34-2608-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3c90209b-b6f6-40b2-a374-6cd37d6d3895	ca1f5f6f-bef8-49af-8bd0-c8beb0c4c53b	g.chr4:66270100G>A	ENST00000273854.3	-	8	2382	c.1782C>T	c.(1780-1782)ctC>ctT	p.L594L	EPHA5_ENST00000511294.1_Silent_p.L595L|EPHA5_ENST00000432638.2_Silent_p.L431L|EPHA5_ENST00000354839.4_Silent_p.L594L	NM_001281765.1|NM_004439.5	NP_001268694.1|NP_004430.4	P54756	EPHA5_HUMAN	EPH receptor A5	594					axon guidance (GO:0007411)|cAMP-mediated signaling (GO:0019933)|ephrin receptor signaling pathway (GO:0048013)|hippocampus development (GO:0021766)|negative regulation of synapse assembly (GO:0051964)|neuron development (GO:0048666)|positive regulation of CREB transcription factor activity (GO:0032793)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|regulation of Rac GTPase activity (GO:0032314)	dendrite (GO:0030425)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|GPI-linked ephrin receptor activity (GO:0005004)|transmembrane-ephrin receptor activity (GO:0005005)	p.L594L(1)		autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	142						ACCTTCCACTGAGGAGGACGC	0.488										TSP Lung(17;0.13)																												uc003hcy.2																			1	Substitution - coding silent(1)		lung(1)	lung(19)|stomach(2)|ovary(2)|central_nervous_system(1)	24						c.(1780-1782)CTC>CTT		ephrin receptor EphA5 isoform a precursor							112.0	94.0	100.0					4																	66270100		2203	4300	6503	SO:0001819	synonymous_variant	2044				cAMP-mediated signaling|neuron development	dendrite|external side of plasma membrane|integral to plasma membrane|neuronal cell body|perinuclear region of cytoplasm|rough endoplasmic reticulum	ATP binding|transmembrane-ephrin receptor activity	g.chr4:66270100G>A	L36644	CCDS3513.1, CCDS3514.1, CCDS75131.1, CCDS75132.1, CCDS75133.1	4q13.1	2013-02-11	2004-10-28		ENSG00000145242	ENSG00000145242		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3389	protein-coding gene	gene with protein product		600004	"""EphA5"""			9267020, 7528718	Standard	NM_004439		Approved	Hek7, TYRO4, CEK7, EHK1	uc003hcy.3	P54756	OTTHUMG00000129273	ENST00000273854.3:c.1782C>T	4.37:g.66270100G>A		TSP Lung(17;0.13)				EPHA5_uc003hcx.2_Silent_p.L526L|EPHA5_uc003hcz.2_Silent_p.L594L|EPHA5_uc011cah.1_Silent_p.L595L|EPHA5_uc011cai.1_Silent_p.L595L|EPHA5_uc003hda.2_Silent_p.L595L	p.L594L	NM_004439	NP_004430	P54756	EPHA5_HUMAN			8	1975	-			594			Helical; (Potential).		Q7Z3F2	Silent	SNP	ENST00000273854.3	37	c.1782C>T	CCDS3513.1																																																																																				PASS	0.488	EPHA5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251388.2	NM_004439		18	97	18	97	---	---	---	---
UGT2B7	7364	broad.mit.edu	37	4	69974002	69974002	+	Missense_Mutation	SNP	C	C	A			TCGA-34-2608-01A-02D-1522-08	TCGA-34-2608-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3c90209b-b6f6-40b2-a374-6cd37d6d3895	ca1f5f6f-bef8-49af-8bd0-c8beb0c4c53b	g.chr4:69974002C>A	ENST00000305231.7	+	5	1318	c.1272C>A	c.(1270-1272)gaC>gaA	p.D424E	UGT2B7_ENST00000509763.1_Intron|UGT2B7_ENST00000508661.1_Intron	NM_001074.2	NP_001065.2	P16662	UD2B7_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B7	424					androgen metabolic process (GO:0008209)|cellular glucuronidation (GO:0052695)|lipid metabolic process (GO:0006629)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	glucuronosyltransferase activity (GO:0015020)	p.D424E(1)		autonomic_ganglia(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(16)|ovary(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	38					Atorvastatin(DB01076)|Carbamazepine(DB00564)|Chenodeoxycholic acid(DB06777)|Codeine(DB00318)|Dabigatran etexilate(DB06695)|Dapagliflozin(DB06292)|Diclofenac(DB00586)|Epirubicin(DB00445)|Etodolac(DB00749)|Ezetimibe(DB00973)|Flunitrazepam(DB01544)|Flurbiprofen(DB00712)|Fluvastatin(DB01095)|Ibuprofen(DB01050)|Indomethacin(DB00328)|Losartan(DB00678)|Lovastatin(DB00227)|Mitiglinide(DB01252)|Morphine(DB00295)|Mycophenolate mofetil(DB00688)|Mycophenolic acid(DB01024)|Naproxen(DB00788)|Oxazepam(DB00842)|Pitavastatin(DB08860)|Silodosin(DB06207)|Simvastatin(DB00641)|Suprofen(DB00870)|Tapentadol(DB06204)|Valproic Acid(DB00313)|Zidovudine(DB00495)	CGAGTACAGACTTGCTGAATG	0.413																																						uc003heg.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(1270-1272)GAC>GAA		UDP glucuronosyltransferase 2B7 precursor							215.0	204.0	208.0					4																	69974002		2203	4300	6503	SO:0001583	missense	7364				lipid metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	g.chr4:69974002C>A	BC030974	CCDS3526.1	4q13	2008-02-05	2005-07-20		ENSG00000171234	ENSG00000171234		"""UDP glucuronosyltransferases"""	12554	protein-coding gene	gene with protein product		600068	"""UDP glycosyltransferase 2 family, polypeptide B7"""			2159463, 7835904	Standard	NM_001074		Approved	UGT2B9	uc003heg.4	P16662	OTTHUMG00000129404	ENST00000305231.7:c.1272C>A	4.37:g.69974002C>A	ENSP00000304811:p.Asp424Glu					UGT2B7_uc010ihq.2_Intron	p.D424E	NM_001074	NP_001065	P16662	UD2B7_HUMAN			5	1318	+			424					B2R810|Q6GTW0	Missense_Mutation	SNP	ENST00000305231.7	37	c.1272C>A	CCDS3526.1	.	.	.	.	.	.	.	.	.	.	C	13.07	2.128283	0.37533	.	.	ENSG00000171234	ENST00000305231	T	0.63744	-0.06	2.72	-5.43	0.02632	.	0.142472	0.43579	U	0.000555	T	0.53916	0.1826	M	0.67625	2.065	0.09310	N	0.999992	B	0.27625	0.183	B	0.37422	0.249	T	0.51260	-0.8728	9	.	.	.	.	6.7583	0.23526	0.1655:0.6101:0.0:0.2244	.	424	P16662	UD2B7_HUMAN	E	424	ENSP00000304811:D424E	.	D	+	3	2	UGT2B7	70008591	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.733000	0.04898	-1.137000	0.02888	-0.339000	0.08088	GAC		PASS	0.413	UGT2B7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251560.1	NM_001074		9	290	9	290	---	---	---	---
HERC5	51191	broad.mit.edu	37	4	89425483	89425483	+	Missense_Mutation	SNP	G	G	C			TCGA-34-2608-01A-02D-1522-08	TCGA-34-2608-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3c90209b-b6f6-40b2-a374-6cd37d6d3895	ca1f5f6f-bef8-49af-8bd0-c8beb0c4c53b	g.chr4:89425483G>C	ENST00000264350.3	+	21	2836	c.2683G>C	c.(2683-2685)Gac>Cac	p.D895H	HERC5_ENST00000508159.1_Missense_Mutation_p.D533H	NM_016323.3	NP_057407.2	Q9UII4	HERC5_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase 5	895	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|innate immune response (GO:0045087)|ISG15-protein conjugation (GO:0032020)|negative regulation of type I interferon production (GO:0032480)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of defense response to virus (GO:0050688)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ISG15 ligase activity (GO:0042296)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)	p.D895H(1)		NS(2)|breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|liver(2)|lung(17)|ovary(4)|prostate(1)|skin(4)	53		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000209)		GTGCGACGAAGACATTATCAA	0.338																																					Esophageal Squamous(39;887 1012 34045 50514)	uc003hrt.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|lung(3)|skin(2)	9						c.(2683-2685)GAC>CAC		hect domain and RLD 5							83.0	86.0	85.0					4																	89425483		2203	4299	6502	SO:0001583	missense	51191				innate immune response|ISG15-protein conjugation|negative regulation of type I interferon production|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of cyclin-dependent protein kinase activity|regulation of defense response to virus|response to virus	cytosol|perinuclear region of cytoplasm	ISG15 ligase activity|protein binding|ubiquitin-protein ligase activity	g.chr4:89425483G>C	AB027289	CCDS3630.1	4q22.1-q23	2012-02-23	2012-02-23		ENSG00000138646	ENSG00000138646			24368	protein-coding gene	gene with protein product		608242	"""hect domain and RLD 5"""			10581175	Standard	NM_016323		Approved	CEB1	uc003hrt.4	Q9UII4	OTTHUMG00000130953	ENST00000264350.3:c.2683G>C	4.37:g.89425483G>C	ENSP00000264350:p.Asp895His					HERC5_uc011cdm.1_Missense_Mutation_p.D533H	p.D895H	NM_016323	NP_057407	Q9UII4	HERC5_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000209)	21	2836	+		Hepatocellular(203;0.114)	895			HECT.		B2RTQ1|Q69G20	Missense_Mutation	SNP	ENST00000264350.3	37	c.2683G>C	CCDS3630.1	.	.	.	.	.	.	.	.	.	.	G	10.87	1.473098	0.26423	.	.	ENSG00000138646	ENST00000264350;ENST00000508159	T;T	0.57595	0.39;0.39	4.62	3.75	0.43078	HECT (4);	0.283291	0.22159	N	0.063817	T	0.50171	0.1600	L	0.55481	1.735	0.21325	N	0.999728	B	0.24721	0.11	B	0.32022	0.139	T	0.48068	-0.9067	10	0.44086	T	0.13	.	12.2721	0.54712	0.0:0.1727:0.8273:0.0	.	895	Q9UII4	HERC5_HUMAN	H	895;533	ENSP00000264350:D895H;ENSP00000424129:D533H	ENSP00000264350:D895H	D	+	1	0	HERC5	89644506	0.974000	0.33945	0.886000	0.34754	0.008000	0.06430	1.900000	0.39828	1.135000	0.42183	0.655000	0.94253	GAC		PASS	0.338	HERC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253554.2	NM_016323		11	182	11	182	---	---	---	---
ARHGEF38	54848	broad.mit.edu	37	4	106510544	106510544	+	Silent	SNP	T	T	C	rs146153509		TCGA-34-2608-01A-02D-1522-08	TCGA-34-2608-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3c90209b-b6f6-40b2-a374-6cd37d6d3895	ca1f5f6f-bef8-49af-8bd0-c8beb0c4c53b	g.chr4:106510544T>C	ENST00000420470.2	+	2	480	c.336T>C	c.(334-336)gaT>gaC	p.D112D	ARHGEF38_ENST00000265154.2_Silent_p.D112D	NM_001242729.1	NP_001229658.1	Q9NXL2	ARH38_HUMAN	Rho guanine nucleotide exchange factor (GEF) 38	112	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.					cytoplasm (GO:0005737)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.D112D(2)		breast(1)|endometrium(1)|large_intestine(2)|lung(4)|ovary(3)	11						ATCTCAATGATCTAGAGCTGT	0.378																																						uc003hxu.2																			2	Substitution - coding silent(2)		lung(2)	ovary(2)|breast(1)	3						c.(334-336)GAT>GAC		hypothetical protein LOC54848		T	,	1,4405	2.1+/-5.4	0,1,2202	122.0	127.0	125.0		336,336	-4.2	0.1	4	dbSNP_134	125	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	ARHGEF38	NM_001242729.1,NM_017700.1	,	0,1,6502	CC,CT,TT		0.0,0.0227,0.0077	,	112/778,112/220	106510544	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	54848				regulation of Rho protein signal transduction	intracellular	Rho guanyl-nucleotide exchange factor activity	g.chr4:106510544T>C	AK000191	CCDS3670.1, CCDS56338.1	4q24	2012-07-24			ENSG00000236699	ENSG00000236699		"""Rho guanine nucleotide exchange factors"""	25968	protein-coding gene	gene with protein product							Standard	NM_001242729		Approved	FLJ20184	uc003hxv.2	Q9NXL2	OTTHUMG00000154752	ENST00000420470.2:c.336T>C	4.37:g.106510544T>C							p.D112D	NM_017700	NP_060170	Q9NXL2	ARH38_HUMAN			2	482	+			112			DH.		C9JIB4	Silent	SNP	ENST00000420470.2	37	c.336T>C	CCDS56338.1																																																																																				PASS	0.378	ARHGEF38-001	PUTATIVE	basic|appris_principal|readthrough_transcript|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000336934.3	NM_017700		27	183	27	183	---	---	---	---
SLC25A31	83447	broad.mit.edu	37	4	128685437	128685437	+	Missense_Mutation	SNP	G	G	T	rs531656423		TCGA-34-2608-01A-02D-1522-08	TCGA-34-2608-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3c90209b-b6f6-40b2-a374-6cd37d6d3895	ca1f5f6f-bef8-49af-8bd0-c8beb0c4c53b	g.chr4:128685437G>T	ENST00000281154.4	+	3	568	c.400G>T	c.(400-402)Gct>Tct	p.A134S		NM_031291.2	NP_112581.1	Q9H0C2	ADT4_HUMAN	solute carrier family 25 (mitochondrial carrier; adenine nucleotide translocator), member 31	134					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|motile cilium (GO:0031514)|nucleus (GO:0005634)	transporter activity (GO:0005215)	p.A134S(1)		NS(1)|breast(1)|large_intestine(10)|lung(8)|skin(2)	22						TTCTGGTGGAGCTGCTGGGGC	0.378																																						uc003ifl.2																			1	Substitution - Missense(1)		lung(1)		0						c.(400-402)GCT>TCT		solute carrier family 25 (mitochondrial carrier;							103.0	100.0	101.0					4																	128685437		2203	4300	6503	SO:0001583	missense	83447				transmembrane transport	cilium|flagellum|integral to membrane|mitochondrial inner membrane	binding|transporter activity	g.chr4:128685437G>T	AL136857	CCDS3733.1	4q28	2013-05-22			ENSG00000151475	ENSG00000151475		"""Solute carriers"""	25319	protein-coding gene	gene with protein product		610796				15670820	Standard	NM_031291		Approved	DKFZP434N1235, ANT4	uc003ifl.3	Q9H0C2	OTTHUMG00000133300	ENST00000281154.4:c.400G>T	4.37:g.128685437G>T	ENSP00000281154:p.Ala134Ser						p.A134S	NM_031291	NP_112581	Q9H0C2	ADT4_HUMAN			3	546	+			134			Helical; Name=3; (Potential).|Solcar 2.			Missense_Mutation	SNP	ENST00000281154.4	37	c.400G>T	CCDS3733.1	.	.	.	.	.	.	.	.	.	.	G	33	5.263031	0.95399	.	.	ENSG00000151475	ENST00000281154	T	0.79845	-1.31	5.0	5.0	0.66597	Mitochondrial carrier domain (2);	0.000000	0.51477	D	0.000081	D	0.87358	0.6157	M	0.67700	2.07	0.58432	D	0.999995	P	0.43885	0.82	P	0.57152	0.814	D	0.88462	0.3056	10	0.87932	D	0	-5.5204	17.2333	0.86991	0.0:0.0:1.0:0.0	.	134	Q9H0C2	ADT4_HUMAN	S	134	ENSP00000281154:A134S	ENSP00000281154:A134S	A	+	1	0	SLC25A31	128904887	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	8.740000	0.91579	2.607000	0.88179	0.655000	0.94253	GCT		PASS	0.378	SLC25A31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257094.2	NM_031291		4	160	4	160	---	---	---	---
PCDH10	57575	broad.mit.edu	37	4	134084389	134084389	+	Missense_Mutation	SNP	G	G	A			TCGA-34-2608-01A-02D-1522-08	TCGA-34-2608-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3c90209b-b6f6-40b2-a374-6cd37d6d3895	ca1f5f6f-bef8-49af-8bd0-c8beb0c4c53b	g.chr4:134084389G>A	ENST00000264360.5	+	4	3881	c.3055G>A	c.(3055-3057)Gat>Aat	p.D1019N		NM_032961.1	NP_116586.1	Q9P2E7	PCD10_HUMAN	protocadherin 10	1019					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.D1019N(1)		NS(2)|breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(30)|liver(1)|lung(72)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(2)	136				LUSC - Lung squamous cell carcinoma(193;0.227)		GAAGGAGCTGGATGGACTGCT	0.498																																						uc003iha.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(3055-3057)GAT>AAT		protocadherin 10 isoform 1 precursor							120.0	131.0	127.0					4																	134084389		2203	4300	6503	SO:0001583	missense	57575				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr4:134084389G>A	AB037821	CCDS34063.1, CCDS75192.1	4q28.3	2010-01-26				ENSG00000138650		"""Cadherins / Protocadherins : Non-clustered"""	13404	protein-coding gene	gene with protein product		608286				10835267	Standard	NM_020815		Approved	OL-PCDH, KIAA1400	uc003iha.3	Q9P2E7		ENST00000264360.5:c.3055G>A	4.37:g.134084389G>A	ENSP00000264360:p.Asp1019Asn						p.D1019N	NM_032961	NP_116586	Q9P2E7	PCD10_HUMAN		LUSC - Lung squamous cell carcinoma(193;0.227)	4	3881	+			1019			Cytoplasmic (Potential).		Q4W5F6|Q96SF0	Missense_Mutation	SNP	ENST00000264360.5	37	c.3055G>A	CCDS34063.1	.	.	.	.	.	.	.	.	.	.	G	18.22	3.576536	0.65878	.	.	ENSG00000138650	ENST00000264360;ENST00000394248	T	0.53423	0.62	5.24	5.24	0.73138	.	0.000000	0.40728	N	0.001033	T	0.29588	0.0738	N	0.08118	0	0.50632	D	0.999888	B	0.33694	0.421	B	0.28139	0.086	T	0.12863	-1.0531	10	0.35671	T	0.21	.	18.6158	0.91302	0.0:0.0:1.0:0.0	.	1019	Q9P2E7	PCD10_HUMAN	N	1019	ENSP00000264360:D1019N	ENSP00000264360:D1019N	D	+	1	0	PCDH10	134303839	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.049000	0.76613	2.717000	0.92951	0.650000	0.86243	GAT		PASS	0.498	PCDH10-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000364457.2	NM_032961		42	331	42	331	---	---	---	---
INPP4B	8821	broad.mit.edu	37	4	143350346	143350346	+	Missense_Mutation	SNP	G	G	T			TCGA-34-2608-01A-02D-1522-08	TCGA-34-2608-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3c90209b-b6f6-40b2-a374-6cd37d6d3895	ca1f5f6f-bef8-49af-8bd0-c8beb0c4c53b	g.chr4:143350346G>T	ENST00000513000.1	-	6	549	c.116C>A	c.(115-117)cCg>cAg	p.P39Q	INPP4B_ENST00000308502.4_Missense_Mutation_p.P39Q|INPP4B_ENST00000506217.1_Missense_Mutation_p.P39Q|INPP4B_ENST00000508116.1_Missense_Mutation_p.P39Q|INPP4B_ENST00000262992.4_Missense_Mutation_p.P39Q|INPP4B_ENST00000507861.1_Missense_Mutation_p.P39Q|INPP4B_ENST00000509777.1_Missense_Mutation_p.P39Q	NM_003866.2	NP_003857.2	O15327	INP4B_HUMAN	inositol polyphosphate-4-phosphatase, type II, 105kDa	39	C2.				cellular calcium ion homeostasis (GO:0006874)|inositol phosphate metabolic process (GO:0043647)|negative regulation of osteoclast differentiation (GO:0045671)|phosphatidylinositol biosynthetic process (GO:0006661)|phospholipid metabolic process (GO:0006644)|regulation of bone remodeling (GO:0046850)|regulation of nucleocytoplasmic transport (GO:0046822)|regulation of protein kinase B signaling (GO:0051896)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|Golgi apparatus (GO:0005794)	lipid binding (GO:0008289)|phosphatidylinositol trisphosphate phosphatase activity (GO:0034594)|phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity (GO:0016316)|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity (GO:0034597)	p.P39Q(1)		breast(3)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(29)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	58	all_hematologic(180;0.158)					TTCCAACTGCGGTTCATTTGG	0.274																																						uc003iix.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)|lung(1)	2						c.(115-117)CCG>CAG		inositol polyphosphate-4-phosphatase, type II,							24.0	25.0	25.0					4																	143350346		2190	4276	6466	SO:0001583	missense	8821				signal transduction		phosphatidylinositol-3,4-bisphosphate 4-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 4-phosphatase activity	g.chr4:143350346G>T	U96922	CCDS3757.1	4q31.1	2008-02-05	2002-08-29			ENSG00000109452			6075	protein-coding gene	gene with protein product		607494	"""inositol polyphosphate-4-phosphatase, type II, 105kD"""			9295334	Standard	NM_003866		Approved		uc003iiw.4	O15327		ENST00000513000.1:c.116C>A	4.37:g.143350346G>T	ENSP00000425487:p.Pro39Gln					INPP4B_uc003iiw.3_Missense_Mutation_p.P39Q|INPP4B_uc011chm.1_RNA|INPP4B_uc011cho.1_RNA|INPP4B_uc003iiz.2_RNA	p.P39Q	NM_003866	NP_003857	O15327	INP4B_HUMAN			6	711	-	all_hematologic(180;0.158)		39			C2.		Q2TAI2|Q5XLE7|Q6IN59|Q6PJB4	Missense_Mutation	SNP	ENST00000513000.1	37	c.116C>A	CCDS3757.1	.	.	.	.	.	.	.	.	.	.	G	23.4	4.411259	0.83340	.	.	ENSG00000109452	ENST00000513000;ENST00000262992;ENST00000308502;ENST00000508116;ENST00000509777;ENST00000510812;ENST00000506217;ENST00000506788;ENST00000507861;ENST00000503927	T;T;T;T;T;T	0.59906	0.75;0.75;0.75;0.75;0.72;0.23	5.54	5.54	0.83059	C2 calcium/lipid-binding domain, CaLB (1);	0.000000	0.85682	D	0.000000	T	0.72787	0.3504	M	0.64404	1.975	0.43632	D	0.996028	D	0.57257	0.979	P	0.60068	0.868	T	0.74526	-0.3636	10	0.87932	D	0	.	19.8426	0.96695	0.0:0.0:1.0:0.0	.	39	O15327	INP4B_HUMAN	Q	39	ENSP00000425487:P39Q;ENSP00000262992:P39Q;ENSP00000308441:P39Q;ENSP00000423954:P39Q;ENSP00000422793:P39Q;ENSP00000427250:P39Q	ENSP00000262992:P39Q	P	-	2	0	INPP4B	143569796	1.000000	0.71417	1.000000	0.80357	0.954000	0.61252	6.466000	0.73543	2.751000	0.94390	0.591000	0.81541	CCG		PASS	0.274	INPP4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364587.1	NM_003866		5	35	5	35	---	---	---	---
DDX60L	91351	broad.mit.edu	37	4	169300557	169300557	+	Silent	SNP	G	G	A			TCGA-34-2608-01A-02D-1522-08	TCGA-34-2608-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3c90209b-b6f6-40b2-a374-6cd37d6d3895	ca1f5f6f-bef8-49af-8bd0-c8beb0c4c53b	g.chr4:169300557G>A	ENST00000511577.1	-	32	4567	c.4320C>T	c.(4318-4320)ctC>ctT	p.L1440L	DDX60L_ENST00000260184.7_Silent_p.L1440L			Q5H9U9	DDX6L_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like	1440							ATP binding (GO:0005524)|helicase activity (GO:0004386)|RNA binding (GO:0003723)	p.L1441L(1)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(23)|ovary(2)|prostate(1)|skin(1)|stomach(1)	43		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)		GBM - Glioblastoma multiforme(119;0.175)		GGCCTCTCTTGAGAAAATTTA	0.353																																						uc003irq.3																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(4318-4320)CTC>CTT		DEAD (Asp-Glu-Ala-Asp) box polypeptide 60-like							63.0	63.0	63.0					4																	169300557		1813	4089	5902	SO:0001819	synonymous_variant	91351						ATP binding|ATP-dependent helicase activity|RNA binding	g.chr4:169300557G>A	AK092461	CCDS47161.1	4q32.3	2008-01-08				ENSG00000181381			26429	protein-coding gene	gene with protein product							Standard	XM_005263341		Approved	FLJ31033	uc003irq.4	Q5H9U9		ENST00000511577.1:c.4320C>T	4.37:g.169300557G>A							p.L1440L	NM_001012967	NP_001012985	Q5H9U9	DDX6L_HUMAN		GBM - Glioblastoma multiforme(119;0.175)	32	4541	-		Prostate(90;0.00876)|Renal(120;0.0183)|all_neural(102;0.0837)|Melanoma(52;0.132)	1440					Q96ND6	Silent	SNP	ENST00000511577.1	37	c.4320C>T																																																																																					PASS	0.353	DDX60L-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000364839.1	NM_001012967		6	121	6	121	---	---	---	---
ZFP42	132625	broad.mit.edu	37	4	188924186	188924186	+	Nonsense_Mutation	SNP	C	C	A	rs369075421		TCGA-34-2608-01A-02D-1522-08	TCGA-34-2608-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3c90209b-b6f6-40b2-a374-6cd37d6d3895	ca1f5f6f-bef8-49af-8bd0-c8beb0c4c53b	g.chr4:188924186C>A	ENST00000326866.4	+	4	633	c.225C>A	c.(223-225)tgC>tgA	p.C75*	ZFP42_ENST00000509524.1_Nonsense_Mutation_p.C75*	NM_174900.3	NP_777560.2	Q96MM3	ZFP42_HUMAN	ZFP42 zinc finger protein	75					female gonad development (GO:0008585)|in utero embryonic development (GO:0001701)|male gonad development (GO:0008584)|meiotic nuclear division (GO:0007126)|regulation of genetic imprinting (GO:2000653)|spermatid development (GO:0007286)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|protein complex (GO:0043234)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.C75C(1)|p.C75*(1)		breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|skin(2)|stomach(1)	27		all_cancers(14;6.2e-52)|all_epithelial(14;7.36e-37)|all_lung(41;2.29e-15)|Lung NSC(41;6.7e-15)|Breast(6;1.53e-05)|Melanoma(20;3.01e-05)|Hepatocellular(41;0.00335)|all_hematologic(60;0.014)|Renal(120;0.0183)|Prostate(90;0.0421)|Colorectal(36;0.227)		OV - Ovarian serous cystadenocarcinoma(60;1.54e-11)|BRCA - Breast invasive adenocarcinoma(30;4.21e-06)|GBM - Glioblastoma multiforme(59;8.93e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.157)		ACATAGAATGCGTCATAAGGG	0.483																																						uc003izg.1																			2	Substitution - Nonsense(1)|Substitution - coding silent(1)		lung(1)|endometrium(1)	ovary(1)|skin(1)	2						c.(223-225)TGC>TGA		zinc finger protein 42							100.0	96.0	98.0					4																	188924186		2203	4300	6503	SO:0001587	stop_gained	132625				female gonad development|male gonad development|meiosis	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr4:188924186C>A	AK056719	CCDS3849.1	4q35.2	2014-09-04	2012-11-27		ENSG00000179059	ENSG00000179059		"""Zinc fingers, C2H2-type"""	30949	protein-coding gene	gene with protein product		614572	"""zinc finger protein 42 homolog (mouse)"", ""zinc finger protein 42"""			12110702	Standard	NM_174900		Approved	REX1, ZNF754	uc003izh.1	Q96MM3	OTTHUMG00000160235	ENST00000326866.4:c.225C>A	4.37:g.188924186C>A	ENSP00000317686:p.Cys75*					ZFP42_uc003izh.1_Nonsense_Mutation_p.C75*|ZFP42_uc003izi.1_Nonsense_Mutation_p.C75*	p.C75*	NM_174900	NP_777560	Q96MM3	ZFP42_HUMAN		OV - Ovarian serous cystadenocarcinoma(60;1.54e-11)|BRCA - Breast invasive adenocarcinoma(30;4.21e-06)|GBM - Glioblastoma multiforme(59;8.93e-05)|STAD - Stomach adenocarcinoma(60;0.000279)|LUSC - Lung squamous cell carcinoma(40;0.00902)|READ - Rectum adenocarcinoma(43;0.157)	3	470	+		all_cancers(14;6.2e-52)|all_epithelial(14;7.36e-37)|all_lung(41;2.29e-15)|Lung NSC(41;6.7e-15)|Breast(6;1.53e-05)|Melanoma(20;3.01e-05)|Hepatocellular(41;0.00335)|all_hematologic(60;0.014)|Renal(120;0.0183)|Prostate(90;0.0421)|Colorectal(36;0.227)	75					D3DP65|Q8WXE2	Nonsense_Mutation	SNP	ENST00000326866.4	37	c.225C>A	CCDS3849.1	.	.	.	.	.	.	.	.	.	.	C	25.2	4.616083	0.87359	.	.	ENSG00000179059	ENST00000326866;ENST00000509524	.	.	.	4.38	0.878	0.19150	.	0.216402	0.38548	N	0.001645	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.40728	T	0.16	.	7.9891	0.30229	0.0:0.6685:0.0:0.3315	.	.	.	.	X	75	.	ENSP00000317686:C75X	C	+	3	2	ZFP42	189161180	0.001000	0.12720	0.012000	0.15200	0.162000	0.22319	-0.080000	0.11339	0.119000	0.18210	0.655000	0.94253	TGC		PASS	0.483	ZFP42-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359794.1	NM_174900		10	112	10	112	---	---	---	---
ROPN1L	83853	broad.mit.edu	37	5	10465045	10465045	+	Missense_Mutation	SNP	G	G	T			TCGA-34-2608-01A-02D-1522-08	TCGA-34-2608-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3c90209b-b6f6-40b2-a374-6cd37d6d3895	ca1f5f6f-bef8-49af-8bd0-c8beb0c4c53b	g.chr5:10465045G>T	ENST00000503804.1	+	6	1200	c.679G>T	c.(679-681)Gat>Tat	p.D227Y	ROPN1L_ENST00000510520.1_Intron|ROPN1L_ENST00000274134.4_Missense_Mutation_p.D227Y			Q96C74	ROP1L_HUMAN	rhophilin associated tail protein 1-like	227					epithelial cilium movement (GO:0003351)|regulation of protein phosphorylation (GO:0001932)|sperm capacitation (GO:0048240)|sperm motility (GO:0030317)	cytoplasm (GO:0005737)|motile cilium (GO:0031514)		p.D227Y(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)	14						AAACTCTGAAGATGTAGGCCA	0.363																																						uc003jex.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(679-681)GAT>TAT		ropporin 1-like							67.0	75.0	72.0					5																	10465045		2203	4300	6503	SO:0001583	missense	83853				ciliary or flagellar motility|signal transduction	cytoplasm|motile cilium	cAMP-dependent protein kinase regulator activity|protein binding	g.chr5:10465045G>T	AF239723	CCDS3879.1	5p15	2011-01-20	2011-01-20		ENSG00000145491	ENSG00000145491			24060	protein-coding gene	gene with protein product	"""radial spoke head 11 homolog (Chlamydomonas)"""	611756	"""ropporin 1-like"""			11278869	Standard	NM_031916		Approved	ASP, FLJ25776, RSPH11	uc021xwo.1	Q96C74	OTTHUMG00000090507	ENST00000503804.1:c.679G>T	5.37:g.10465045G>T	ENSP00000421405:p.Asp227Tyr						p.D227Y	NM_031916	NP_114122	Q96C74	ROP1L_HUMAN			5	950	+			227					D3DTC9|Q9BZX0	Missense_Mutation	SNP	ENST00000503804.1	37	c.679G>T	CCDS3879.1	.	.	.	.	.	.	.	.	.	.	G	13.18	2.160373	0.38119	.	.	ENSG00000145491	ENST00000503804;ENST00000274134	T;T	0.26223	1.75;1.75	4.49	2.47	0.30058	.	1.464360	0.04965	N	0.462791	T	0.25938	0.0632	N	0.08118	0	0.09310	N	1	D	0.58620	0.983	P	0.57468	0.821	T	0.33548	-0.9864	10	0.66056	D	0.02	-12.7271	6.8801	0.24168	0.0:0.1951:0.6038:0.2011	.	227	Q96C74	ROP1L_HUMAN	Y	227	ENSP00000421405:D227Y;ENSP00000274134:D227Y	ENSP00000274134:D227Y	D	+	1	0	ROPN1L	10518045	0.007000	0.16637	0.039000	0.18376	0.662000	0.39071	0.790000	0.26900	0.976000	0.38417	0.558000	0.71614	GAT		PASS	0.363	ROPN1L-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367033.1	NM_031916		28	176	28	176	---	---	---	---
HTR1A	3350	broad.mit.edu	37	5	63257020	63257020	+	Missense_Mutation	SNP	C	C	A			TCGA-34-2608-01A-02D-1522-08	TCGA-34-2608-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3c90209b-b6f6-40b2-a374-6cd37d6d3895	ca1f5f6f-bef8-49af-8bd0-c8beb0c4c53b	g.chr5:63257020C>A	ENST00000323865.3	-	1	760	c.527G>T	c.(526-528)cGc>cTc	p.R176L	RP11-158J3.2_ENST00000502882.1_RNA	NM_000524.3	NP_000515.2	P08908	5HT1A_HUMAN	5-hydroxytryptamine (serotonin) receptor 1A, G protein-coupled	176					adenylate cyclase-inhibiting serotonin receptor signaling pathway (GO:0007198)|behavioral fear response (GO:0001662)|cell proliferation (GO:0008283)|exploration behavior (GO:0035640)|G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of cell proliferation (GO:0008284)|regulation of behavior (GO:0050795)|regulation of dopamine metabolic process (GO:0042053)|regulation of hormone secretion (GO:0046883)|regulation of serotonin secretion (GO:0014062)|serotonin metabolic process (GO:0042428)|serotonin receptor signaling pathway (GO:0007210)|vasoconstriction (GO:0042310)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	serotonin receptor activity (GO:0004993)	p.R176L(1)		cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(29)|ovary(2)|pancreas(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	56		Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0575)|Colorectal(97;0.234)		Lung(70;0.105)	Acepromazine(DB01614)|Alprenolol(DB00866)|Alverine(DB01616)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bopindolol(DB08807)|Bromocriptine(DB01200)|Buspirone(DB00490)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Cinitapride(DB08810)|Clozapine(DB00363)|Desipramine(DB01151)|Dopamine(DB00988)|Doxepin(DB01142)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Iloperidone(DB04946)|Imipramine(DB00458)|Ketamine(DB01221)|Lisuride(DB00589)|Loxapine(DB00408)|Lurasidone(DB08815)|Methysergide(DB00247)|Mianserin(DB06148)|Molindone(DB01618)|Naratriptan(DB00952)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Ondansetron(DB00904)|Paliperidone(DB01267)|Penbutolol(DB01359)|Pergolide(DB01186)|Pindolol(DB00960)|Pipotiazine(DB01621)|Pramipexole(DB00413)|Propranolol(DB00571)|Quetiapine(DB01224)|Risperidone(DB00734)|Ropinirole(DB00268)|Rotigotine(DB05271)|Sumatriptan(DB00669)|Thioproperazine(DB01622)|Trazodone(DB00656)|Trimipramine(DB00726)|Vilazodone(DB06684)|Yohimbine(DB01392)|Ziprasidone(DB00246)|Zolmitriptan(DB00315)	TTCCGGGGTGCGCCAGCCCAG	0.597																																						uc011cqt.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)|pancreas(2)	4						c.(526-528)CGC>CTC		5-hydroxytryptamine (serotonin) receptor 1A	Alprenolol(DB00866)|Aripiprazole(DB01238)|Buspirone(DB00490)|Clozapine(DB00363)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Fluvoxamine(DB00176)|Lisuride(DB00589)|Methysergide(DB00247)|Mirtazapine(DB00370)|Pindolol(DB00960)|Propranolol(DB00571)|Quetiapine(DB01224)|Sertraline(DB01104)|Tegaserod(DB01079)|Trazodone(DB00656)|Venlafaxine(DB00285)|Ziprasidone(DB00246)						104.0	121.0	115.0					5																	63257020		2203	4300	6503	SO:0001583	missense	3350				behavior|positive regulation of cell proliferation	integral to plasma membrane	serotonin receptor activity	g.chr5:63257020C>A	AF498978	CCDS34168.1	5q11.2-q13	2012-08-08	2012-02-03			ENSG00000178394		"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	5286	protein-coding gene	gene with protein product		109760	"""5-hydroxytryptamine (serotonin) receptor 1A"""	ADRB2RL1, ADRBRL1		2591972, 12969265	Standard	NM_000524		Approved	5-HT1A	uc011cqt.3	P08908		ENST00000323865.3:c.527G>T	5.37:g.63257020C>A	ENSP00000316244:p.Arg176Leu						p.R176L	NM_000524	NP_000515	P08908	5HT1A_HUMAN		Lung(70;0.105)	1	527	-		Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0575)|Colorectal(97;0.234)	176			Helical; Name=4; (By similarity).		Q6LAE7	Missense_Mutation	SNP	ENST00000323865.3	37	c.527G>T	CCDS34168.1	.	.	.	.	.	.	.	.	.	.	C	27.4	4.826363	0.90955	.	.	ENSG00000178394	ENST00000323865	T	0.36520	1.25	5.7	5.7	0.88788	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.61426	0.2346	M	0.72894	2.215	0.80722	D	1	D	0.71674	0.998	D	0.72075	0.976	T	0.62134	-0.6918	10	0.62326	D	0.03	.	18.8287	0.92128	0.0:1.0:0.0:0.0	.	176	P08908	5HT1A_HUMAN	L	176	ENSP00000316244:R176L	ENSP00000316244:R176L	R	-	2	0	HTR1A	63292776	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.818000	0.86416	2.692000	0.91855	0.655000	0.94253	CGC		PASS	0.597	HTR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368397.1	NM_000524		42	195	42	195	---	---	---	---
CAST	831	broad.mit.edu	37	5	96083050	96083050	+	Splice_Site	SNP	A	A	G			TCGA-34-2608-01A-02D-1522-08	TCGA-34-2608-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3c90209b-b6f6-40b2-a374-6cd37d6d3895	ca1f5f6f-bef8-49af-8bd0-c8beb0c4c53b	g.chr5:96083050A>G	ENST00000341926.3	+	16	1199	c.1037A>G	c.(1036-1038)gAt>gGt	p.D346G	CAST_ENST00000511049.1_Splice_Site_p.D332G|CAST_ENST00000309190.5_Splice_Site_p.D324G|CAST_ENST00000515663.1_Splice_Site_p.D69G|CAST_ENST00000511782.1_Splice_Site_p.D332G|CAST_ENST00000504465.1_Splice_Site_p.D274G|CAST_ENST00000325674.7_Splice_Site_p.D394G|CAST_ENST00000508830.1_Splice_Site_p.D429G|CAST_ENST00000359176.4_Splice_Site_p.D410G|CAST_ENST00000510756.1_Splice_Site_p.D407G|CAST_ENST00000509903.1_Splice_Site_p.D311G|CAST_ENST00000395813.1_Splice_Site_p.D429G|CAST_ENST00000508579.1_Splice_Site_p.D61G|CAST_ENST00000348386.3_3'UTR|CAST_ENST00000508608.1_Splice_Site_p.D392G|CAST_ENST00000338252.3_Splice_Site_p.D333G|CAST_ENST00000395812.2_Splice_Site_p.D388G			P20810	ICAL_HUMAN	calpastatin	346					negative regulation of endopeptidase activity (GO:0010951)|negative regulation of type B pancreatic cell apoptotic process (GO:2000675)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)	cysteine-type endopeptidase inhibitor activity (GO:0004869)|endopeptidase inhibitor activity (GO:0004866)|poly(A) RNA binding (GO:0044822)	p.D324G(1)		breast(1)|central_nervous_system(4)|endometrium(2)|kidney(4)|large_intestine(3)|lung(5)|ovary(1)|skin(2)	22		all_cancers(142;5.27e-07)|all_epithelial(76;8.21e-10)|all_lung(232;0.000396)|Lung NSC(167;0.000539)|Ovarian(225;0.024)|Colorectal(57;0.0341)|Breast(839;0.244)		all cancers(79;6.85e-15)		CATTTACAGGATAAAGATGGA	0.313																																						uc003klz.1																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(3)|ovary(1)|kidney(1)	5						c.(1036-1038)GAT>GGT		calpastatin isoform i							39.0	42.0	41.0					5																	96083050		2201	4298	6499	SO:0001630	splice_region_variant	831						calcium-dependent cysteine-type endopeptidase inhibitor activity|protein binding	g.chr5:96083050A>G	AF327443	CCDS4082.1, CCDS54882.1, CCDS54883.1, CCDS75279.1	5q15	2012-09-20			ENSG00000153113	ENSG00000153113			1515	protein-coding gene	gene with protein product		114090				8340353, 14685690, 15820218	Standard	NM_173060		Approved		uc003klx.3	P20810	OTTHUMG00000128413	ENST00000341926.3:c.1036-1A>G	5.37:g.96083050A>G						CAST_uc003klt.2_Missense_Mutation_p.D333G|CAST_uc003klu.2_Missense_Mutation_p.D429G|CAST_uc003klv.2_Missense_Mutation_p.D407G|CAST_uc003klw.2_Missense_Mutation_p.D410G|CAST_uc003klx.2_Missense_Mutation_p.D388G|CAST_uc003kly.2_Missense_Mutation_p.D394G|CAST_uc011cuo.1_Missense_Mutation_p.D392G|CAST_uc011cuq.1_Missense_Mutation_p.D194G|CAST_uc011cur.1_Missense_Mutation_p.D332G|CAST_uc011cus.1_Missense_Mutation_p.D333G|CAST_uc003kma.1_Missense_Mutation_p.D305G|CAST_uc011cut.1_Missense_Mutation_p.D274G|CAST_uc003kmb.2_Missense_Mutation_p.D292G|CAST_uc003kmc.2_Missense_Mutation_p.D346G|CAST_uc003kmd.2_Missense_Mutation_p.D324G|CAST_uc003kme.2_Missense_Mutation_p.D305G|CAST_uc003kmf.2_Missense_Mutation_p.D311G|CAST_uc003kmh.2_Missense_Mutation_p.D61G|CAST_uc010jbj.2_Missense_Mutation_p.D61G|CAST_uc010jbk.2_Missense_Mutation_p.D61G|CAST_uc010jbl.1_Missense_Mutation_p.D69G|CAST_uc003kmi.2_RNA|CAST_uc003kmj.2_Missense_Mutation_p.D69G	p.D346G	NM_001042443	NP_001035908	P20810	ICAL_HUMAN		all cancers(79;6.85e-15)	16	1199	+		all_cancers(142;5.27e-07)|all_epithelial(76;8.21e-10)|all_lung(232;0.000396)|Lung NSC(167;0.000539)|Ovarian(225;0.024)|Colorectal(57;0.0341)|Breast(839;0.244)	346			Inhibitory domain 2.		B7Z468|G5E946|G5E9D3|O95360|Q05DE8|Q7Z4K0|Q96D08|Q9H1Z5	Missense_Mutation	SNP	ENST00000341926.3	37	c.1037A>G		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	21.0|21.0	4.089555|4.089555	0.76756|0.76756	.|.	.|.	ENSG00000153113|ENSG00000153113	ENST00000338252;ENST00000508830;ENST00000395813;ENST00000359176;ENST00000325674;ENST00000395812;ENST00000510756;ENST00000508608;ENST00000341926;ENST00000511049;ENST00000309190;ENST00000510156;ENST00000504465;ENST00000509903;ENST00000511782;ENST00000508579;ENST00000509259;ENST00000503828;ENST00000515663|ENST00000437034	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T|.	0.21031|.	2.03;2.03;2.03;2.03;2.03;2.03;2.03;2.03;2.03;2.03;2.03;2.03;2.03;2.03;2.03;2.03;2.19;2.03;2.03|.	5.73|5.73	5.73|5.73	0.89815|0.89815	.|.	0.432395|.	0.26719|.	N|.	0.022852|.	T|T	0.73628|0.73628	0.3611|0.3611	M|M	0.73962|0.73962	2.25|2.25	0.38184|0.38184	D|D	0.939707|0.939707	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D|.	0.89917|.	0.999;1.0;0.999;0.999;1.0;0.999;1.0;1.0;0.998;0.999;1.0;0.999;1.0;0.997;0.999;1.0;0.998|.	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D|.	0.97110|.	0.999;1.0;0.996;0.995;1.0;0.999;1.0;1.0;0.998;0.998;1.0;0.998;0.999;0.995;0.994;0.999;0.998|.	T|T	0.77064|0.77064	-0.2726|-0.2726	10|5	0.52906|.	T|.	0.07|.	-21.6846|-21.6846	13.5561|13.5561	0.61759|0.61759	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	274;194;392;69;97;69;332;311;324;305;346;394;388;410;407;429;333|.	E9PDE4;B7Z8S8;B7Z468;E7EQA0;Q86YM9;E7EPY6;E7EVY3;E9PCH5;G5E946;P20810-4;P20810;P20810-5;G5E9D3;P20810-7;E7ESM9;P20810-6;P20810-2|.	.;.;.;.;.;.;.;.;.;.;ICAL_HUMAN;.;.;.;.;.;.|.	G|V	333;429;429;410;394;388;407;392;346;332;324;346;274;311;332;61;33;61;69|98	ENSP00000343421:D333G;ENSP00000425721:D429G;ENSP00000379158:D429G;ENSP00000352098:D410G;ENSP00000320319:D394G;ENSP00000379157:D388G;ENSP00000422176:D407G;ENSP00000422677:D392G;ENSP00000339914:D346G;ENSP00000421130:D332G;ENSP00000312523:D324G;ENSP00000422325:D346G;ENSP00000425670:D274G;ENSP00000426946:D311G;ENSP00000423638:D332G;ENSP00000425787:D61G;ENSP00000423846:D33G;ENSP00000422807:D61G;ENSP00000422929:D69G|.	ENSP00000312523:D324G|.	D|I	+|+	2|1	0|0	CAST|CAST	96108806|96108806	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.946000|0.946000	0.59487|0.59487	5.215000|5.215000	0.65241|0.65241	2.197000|2.197000	0.70478|0.70478	0.533000|0.533000	0.62120|0.62120	GAT|ATA		PASS	0.313	CAST-004	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000250199.2	NM_173062	Missense_Mutation	18	80	18	80	---	---	---	---
PCDHA1	56147	broad.mit.edu	37	5	140167125	140167125	+	Missense_Mutation	SNP	G	G	A			TCGA-34-2608-01A-02D-1522-08	TCGA-34-2608-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3c90209b-b6f6-40b2-a374-6cd37d6d3895	ca1f5f6f-bef8-49af-8bd0-c8beb0c4c53b	g.chr5:140167125G>A	ENST00000504120.2	+	1	1250	c.1250G>A	c.(1249-1251)aGc>aAc	p.S417N	PCDHA1_ENST00000394633.3_Missense_Mutation_p.S417N|PCDHA1_ENST00000378133.3_Missense_Mutation_p.S417N	NM_018900.2	NP_061723.1	Q9Y5I3	PCDA1_HUMAN	protocadherin alpha 1	417	Cadherin 4. {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)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.S417N(2)		breast(3)|endometrium(3)|kidney(2)|large_intestine(13)|lung(34)|prostate(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(3)	70			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GATCGCGAGAGCCTGTCGGTC	0.627																																						uc003lhb.2																			2	Substitution - Missense(2)		lung(2)	skin(1)	1						c.(1249-1251)AGC>AAC		protocadherin alpha 1 isoform 1 precursor							126.0	123.0	124.0					5																	140167125		2203	4300	6503	SO:0001583	missense	56147				homophilic cell adhesion|nervous system development	extracellular region|integral to plasma membrane	calcium ion binding|protein binding	g.chr5:140167125G>A	AF152479	CCDS54912.1, CCDS54913.1	5q31	2010-11-26				ENSG00000204970		"""Cadherins / Protocadherins : Clustered"""	8663	other	complex locus constituent	"""KIAA0345-like 13"""	606307				10380929	Standard	NM_018900		Approved			Q9Y5I3		ENST00000504120.2:c.1250G>A	5.37:g.140167125G>A	ENSP00000420840:p.Ser417Asn					PCDHA1_uc003lha.2_Missense_Mutation_p.S417N|PCDHA1_uc003lgz.2_Missense_Mutation_p.S417N	p.S417N	NM_018900	NP_061723	Q9Y5I3	PCDA1_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1250	+			417			Cadherin 4.|Extracellular (Potential).		O75288|Q9NRT7	Missense_Mutation	SNP	ENST00000504120.2	37	c.1250G>A	CCDS54913.1	.	.	.	.	.	.	.	.	.	.	g	1.361	-0.588778	0.03799	.	.	ENSG00000204970	ENST00000504120;ENST00000394633;ENST00000378133	T;T;T	0.01838	4.61;4.61;4.61	4.02	-2.74	0.05932	Cadherin (4);Cadherin-like (1);	0.826247	0.10292	U	0.692253	T	0.01421	0.0046	N	0.16790	0.44	0.09310	N	1	B;B;B	0.15473	0.013;0.007;0.01	B;B;B	0.26202	0.067;0.003;0.008	T	0.48139	-0.9061	10	0.39692	T	0.17	.	0.7336	0.00961	0.3703:0.2236:0.2198:0.1864	.	417;417;417	Q9Y5I3;Q9Y5I3-2;Q9Y5I3-3	PCDA1_HUMAN;.;.	N	417	ENSP00000420840:S417N;ENSP00000378129:S417N;ENSP00000367373:S417N	ENSP00000367373:S417N	S	+	2	0	PCDHA1	140147309	0.000000	0.05858	0.001000	0.08648	0.007000	0.05969	-0.777000	0.04669	-0.622000	0.05626	0.549000	0.68633	AGC		PASS	0.627	PCDHA1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000389127.1	NM_018900		11	189	11	189	---	---	---	---
DOCK2	1794	broad.mit.edu	37	5	169111316	169111316	+	Silent	SNP	C	C	T			TCGA-34-2608-01A-02D-1522-08	TCGA-34-2608-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3c90209b-b6f6-40b2-a374-6cd37d6d3895	ca1f5f6f-bef8-49af-8bd0-c8beb0c4c53b	g.chr5:169111316C>T	ENST00000256935.8	+	8	803	c.723C>T	c.(721-723)ttC>ttT	p.F241F		NM_004946.2	NP_004937.1	Q92608	DOCK2_HUMAN	dedicator of cytokinesis 2	241					actin cytoskeleton organization (GO:0030036)|alpha-beta T cell proliferation (GO:0046633)|chemotaxis (GO:0006935)|establishment of T cell polarity (GO:0001768)|immunological synapse formation (GO:0001771)|macropinocytosis (GO:0044351)|membrane raft polarization (GO:0001766)|myeloid dendritic cell activation involved in immune response (GO:0002277)|negative thymic T cell selection (GO:0045060)|positive regulation of phagocytosis (GO:0050766)|positive thymic T cell selection (GO:0045059)|regulation of defense response to virus by virus (GO:0050690)|small GTPase mediated signal transduction (GO:0007264)|viral process (GO:0016032)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	Rac GTPase activator activity (GO:0030675)|Rac guanyl-nucleotide exchange factor activity (GO:0030676)|T cell receptor binding (GO:0042608)	p.F241F(1)		NS(2)|breast(5)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(42)|liver(2)|lung(63)|ovary(5)|pancreas(3)|prostate(7)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	160	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)			CTGAGCTCTTCATGTCTCTCT	0.483																																						uc003maf.2																			1	Substitution - coding silent(1)		lung(1)	ovary(5)|pancreas(2)	7						c.(721-723)TTC>TTT		dedicator of cytokinesis 2							188.0	168.0	175.0					5																	169111316		2203	4300	6503	SO:0001819	synonymous_variant	1794				actin cytoskeleton organization|regulation of defense response to virus by virus|viral reproduction	cytoskeleton|cytosol|endomembrane system|membrane	electron carrier activity|GTP binding|GTPase binding|heme binding|Rac guanyl-nucleotide exchange factor activity|T cell receptor binding	g.chr5:169111316C>T	BC016996	CCDS4371.1	5q35.1	2008-02-05			ENSG00000134516	ENSG00000134516			2988	protein-coding gene	gene with protein product		603122	"""dedicator of cyto-kinesis 2"""				Standard	NM_004946		Approved	KIAA0209	uc003maf.3	Q92608	OTTHUMG00000130437	ENST00000256935.8:c.723C>T	5.37:g.169111316C>T						DOCK2_uc011der.1_RNA	p.F241F	NM_004946	NP_004937	Q92608	DOCK2_HUMAN	Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		8	803	+	Renal(175;0.000159)|Lung NSC(126;0.0221)|all_lung(126;0.0337)	Medulloblastoma(196;0.0399)|all_neural(177;0.0966)	241					Q2M3I0|Q96AK7	Silent	SNP	ENST00000256935.8	37	c.723C>T	CCDS4371.1																																																																																				PASS	0.483	DOCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252828.2	NM_004946		5	243	5	243	---	---	---	---
RPL26L1	51121	broad.mit.edu	37	5	172396424	172396424	+	Silent	SNP	C	C	T			TCGA-34-2608-01A-02D-1522-08	TCGA-34-2608-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3c90209b-b6f6-40b2-a374-6cd37d6d3895	ca1f5f6f-bef8-49af-8bd0-c8beb0c4c53b	g.chr5:172396424C>T	ENST00000521476.1	+	4	442	c.318C>T	c.(316-318)atC>atT	p.I106I	RPL26L1_ENST00000519239.1_Silent_p.I106I|RPL26L1_ENST00000265100.2_Silent_p.I106I|RPL26L1_ENST00000519974.1_Silent_p.I106I			Q9UNX3	RL26L_HUMAN	ribosomal protein L26-like 1	106					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|large ribosomal subunit (GO:0015934)	structural constituent of ribosome (GO:0003735)	p.I106I(1)		breast(1)|endometrium(1)|kidney(1)|lung(2)|prostate(1)|urinary_tract(1)	7	Renal(175;0.000159)|Lung NSC(126;0.00344)|all_lung(126;0.00594)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)			AGGTGGTTATCACCAGGCTAA	0.398																																						uc003mcc.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(316-318)ATC>ATT		ribosomal protein L26-like 1							88.0	92.0	91.0					5																	172396424		2203	4300	6503	SO:0001819	synonymous_variant	51121				endocrine pancreas development|translational elongation|translational termination|viral transcription	cytosol|large ribosomal subunit	structural constituent of ribosome	g.chr5:172396424C>T	AF083248	CCDS4382.1	5q35.2	2008-03-14	2001-12-07	2001-12-14	ENSG00000037241	ENSG00000037241		"""L ribosomal proteins"""	17050	protein-coding gene	gene with protein product			"""ribosomal protein L26 pseudogene 1"""	RPL26P1		11042152	Standard	NM_016093		Approved		uc003mcc.3	Q9UNX3	OTTHUMG00000130517	ENST00000521476.1:c.318C>T	5.37:g.172396424C>T							p.I106I	NM_016093	NP_057177	Q9UNX3	RL26L_HUMAN	Kidney(164;7.24e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000516)		4	360	+	Renal(175;0.000159)|Lung NSC(126;0.00344)|all_lung(126;0.00594)	Medulloblastoma(196;0.0208)|all_neural(177;0.0416)	106					B3KY82|D3DQM0	Silent	SNP	ENST00000521476.1	37	c.318C>T	CCDS4382.1																																																																																				PASS	0.398	RPL26L1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372559.1	NM_016093		25	157	25	157	---	---	---	---
F13A1	2162	broad.mit.edu	37	6	6305716	6305717	+	Missense_Mutation	DNP	CC	CC	AA			TCGA-34-2608-01A-02D-1522-08	TCGA-34-2608-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3c90209b-b6f6-40b2-a374-6cd37d6d3895	ca1f5f6f-bef8-49af-8bd0-c8beb0c4c53b	g.chr6:6305716_6305717CC>AA	ENST00000264870.3	-	3	451_452	c.186_187GG>TT	c.(184-189)aaGGtg>aaTTtg	p.62_63KV>NL		NM_000129.3	NP_000120.2	P00488	F13A_HUMAN	coagulation factor XIII, A1 polypeptide	62					blood coagulation (GO:0007596)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|platelet alpha granule lumen (GO:0031093)	metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)	p.K62N(1)|p.V63L(1)|p.K62_V63>NL(1)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	62	Ovarian(93;0.0816)	all_hematologic(90;0.152)			L-Glutamine(DB00130)	TGGTGGTCCACCTTGTTAGTGT	0.431																																						uc003mwv.2																			3	Substitution - Missense(2)|Complex - compound substitution(1)		lung(3)	ovary(2)|haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)|pancreas(1)|skin(1)	6						c.(187-189)GTG>TTG|c.(184-186)AAG>AAT		coagulation factor XIII A1 subunit precursor	L-Glutamine(DB00130)																																			SO:0001583	missense	2162				peptide cross-linking|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity	g.chr6:6305716C>A|g.chr6:6305717C>A	M14539	CCDS4496.1	6p24.2-p23	2014-01-24			ENSG00000124491	ENSG00000124491		"""Transglutaminases"""	3531	protein-coding gene	gene with protein product		134570		F13A			Standard	NM_000129		Approved		uc003mwv.3	P00488	OTTHUMG00000014186	ENST00000264870.3:c.186_187delinsAA	6.37:g.6305716_6305717delinsAA	ENSP00000264870:p.K62_V63delinsNL					F13A1_uc011dib.1_Intron	p.V63L|p.K62N	NM_000129	NP_000120	P00488	F13A_HUMAN			3	310|309	-	Ovarian(93;0.0816)	all_hematologic(90;0.152)	63|62					Q59HA7|Q8N6X2|Q96P24|Q9BX29	Missense_Mutation	SNP	ENST00000264870.3	37	c.187G>T|c.186G>T	CCDS4496.1																																																																																				PASS	0.431	F13A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039756.3	NM_000129		15|16	165	15	165	---	---	---	---
RUNX2	860	broad.mit.edu	37	6	45480107	45480107	+	Silent	SNP	G	G	A			TCGA-34-2608-01A-02D-1522-08	TCGA-34-2608-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3c90209b-b6f6-40b2-a374-6cd37d6d3895	ca1f5f6f-bef8-49af-8bd0-c8beb0c4c53b	g.chr6:45480107G>A	ENST00000371438.1	+	6	1342	c.984G>A	c.(982-984)ggG>ggA	p.G328G	RUNX2_ENST00000359524.5_Silent_p.G314G|RUNX2_ENST00000465038.2_Silent_p.G328G|RUNX2_ENST00000371432.3_Silent_p.G314G|RUNX2_ENST00000371436.6_Silent_p.G328G|RUNX2_ENST00000541979.1_Silent_p.G396G|RUNX2_ENST00000576263.1_Silent_p.G328G|RUNX2_ENST00000352853.5_Silent_p.G396G	NM_001024630.3	NP_001019801.3	Q13950	RUNX2_HUMAN	runt-related transcription factor 2	328	Pro/Ser/Thr-rich.				BMP signaling pathway (GO:0030509)|cell maturation (GO:0048469)|cellular response to BMP stimulus (GO:0071773)|chondrocyte development (GO:0002063)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic forelimb morphogenesis (GO:0035115)|endochondral ossification (GO:0001958)|gene expression (GO:0010467)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription, DNA-templated (GO:0045892)|odontogenesis of dentin-containing tooth (GO:0042475)|ossification (GO:0001503)|osteoblast development (GO:0002076)|osteoblast differentiation (GO:0001649)|osteoblast fate commitment (GO:0002051)|positive regulation of cell proliferation (GO:0008284)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter involved in cellular response to chemical stimulus (GO:1901522)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|regulation of odontogenesis of dentin-containing tooth (GO:0042487)|stem cell differentiation (GO:0048863)|T cell differentiation (GO:0030217)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)	p.G396G(1)|p.G328G(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(5)|liver(1)|lung(18)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	34						GGGGCACTGGGCTTCCTGCCA	0.597																																						uc011dvx.1																			2	Substitution - coding silent(2)		lung(2)	ovary(2)|skin(1)	3						c.(982-984)GGG>GGA		runt-related transcription factor 2 isoform a							121.0	98.0	106.0					6																	45480107		2203	4300	6503	SO:0001819	synonymous_variant	860				negative regulation of transcription, DNA-dependent|osteoblast differentiation|positive regulation of transcription, DNA-dependent	nucleus	ATP binding|DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr6:45480107G>A	AF001450	CCDS43467.1, CCDS43468.1, CCDS43467.2, CCDS43468.2	6p21	2010-08-20			ENSG00000124813	ENSG00000124813			10472	protein-coding gene	gene with protein product		600211		CCD, CBFA1, CCD1		7835892	Standard	NM_001024630		Approved	AML3, PEBP2A1, PEBP2aA1	uc011dvx.2	Q13950	OTTHUMG00000014774	ENST00000371438.1:c.984G>A	6.37:g.45480107G>A						RUNX2_uc011dvy.1_Silent_p.G328G|RUNX2_uc003oxt.2_Silent_p.G314G	p.G328G	NM_001024630	NP_001019801	Q13950	RUNX2_HUMAN			7	1194	+			328			Pro/Ser/Thr-rich.		O14614|O14615|O95181	Silent	SNP	ENST00000371438.1	37	c.984G>A	CCDS43467.2																																																																																				PASS	0.597	RUNX2-003	KNOWN	not_organism_supported|upstream_ATG|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040755.2	NM_004348		12	135	12	135	---	---	---	---
PTCHD4	442213	broad.mit.edu	37	6	47846506	47846506	+	Missense_Mutation	SNP	C	C	T	rs528776718		TCGA-34-2608-01A-02D-1522-08	TCGA-34-2608-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3c90209b-b6f6-40b2-a374-6cd37d6d3895	ca1f5f6f-bef8-49af-8bd0-c8beb0c4c53b	g.chr6:47846506C>T	ENST00000339488.4	-	3	2107	c.2074G>A	c.(2074-2076)Gtc>Atc	p.V692I		NM_001013732.3	NP_001013754.3	Q6ZW05	PTHD4_HUMAN	patched domain containing 4	692						integral component of membrane (GO:0016021)	hedgehog receptor activity (GO:0008158)	p.V692L(2)|p.V692I(1)									ATTGAGGTGACGCTAAGAATT	0.453													C|||	1	0.000199681	0.0	0.0	5008	,	,		19903	0.0		0.001	False		,,,				2504	0.0					uc011dwm.1																			3	Substitution - Missense(3)		lung(3)	central_nervous_system(1)	1						c.(2023-2025)GTC>ATC		hypothetical protein LOC442213							84.0	81.0	82.0					6																	47846506		2203	4300	6503	SO:0001583	missense	442213					integral to membrane	hedgehog receptor activity	g.chr6:47846506C>T		CCDS34473.2	6p12.3	2012-02-06	2012-02-06	2012-02-06	ENSG00000244694	ENSG00000244694			21345	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 138"""	C6orf138			Standard	NM_001013732		Approved	dJ402H5.2, FLJ41841	uc011dwm.2	Q6ZW05	OTTHUMG00000150404	ENST00000339488.4:c.2074G>A	6.37:g.47846506C>T	ENSP00000341914:p.Val692Ile					C6orf138_uc011dwn.1_Missense_Mutation_p.V439I	p.V675I	NM_001013732	NP_001013754	Q6ZW05	CF138_HUMAN			3	2108	-			692			Helical; (Potential).		B0QZ29|B4DRK3|Q5T884	Missense_Mutation	SNP	ENST00000339488.4	37	c.2023G>A	CCDS34473.2	.	.	.	.	.	.	.	.	.	.	C	14.06	2.424140	0.43020	.	.	ENSG00000244694	ENST00000339488	D	0.82711	-1.64	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	T	0.74913	0.3779	L	0.38175	1.15	0.80722	D	1	P	0.46277	0.875	P	0.50490	0.642	T	0.72855	-0.4166	10	0.06625	T	0.88	.	20.3052	0.98627	0.0:1.0:0.0:0.0	.	692	Q6ZW05	CF138_HUMAN	I	692	ENSP00000341914:V692I	ENSP00000341914:V692I	V	-	1	0	C6orf138	47954465	1.000000	0.71417	0.987000	0.45799	0.997000	0.91878	4.686000	0.61700	2.814000	0.96858	0.650000	0.86243	GTC		PASS	0.453	PTCHD4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317987.2	NM_001013732		11	63	11	63	---	---	---	---
PKHD1	5314	broad.mit.edu	37	6	51944713	51944713	+	Missense_Mutation	SNP	A	A	C			TCGA-34-2608-01A-02D-1522-08	TCGA-34-2608-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3c90209b-b6f6-40b2-a374-6cd37d6d3895	ca1f5f6f-bef8-49af-8bd0-c8beb0c4c53b	g.chr6:51944713A>C	ENST00000371117.3	-	5	650	c.375T>G	c.(373-375)gaT>gaG	p.D125E	PKHD1_ENST00000340994.4_Missense_Mutation_p.D125E	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	125					cellular calcium ion homeostasis (GO:0006874)|cilium assembly (GO:0042384)|homeostatic process (GO:0042592)|kidney development (GO:0001822)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular component movement (GO:0051271)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein kinase B signaling (GO:0051898)|positive regulation of cell proliferation (GO:0008284)|regulation of centrosome duplication (GO:0010824)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of TOR signaling (GO:0032006)|single organismal cell-cell adhesion (GO:0016337)	anchored component of external side of plasma membrane (GO:0031362)|apical plasma membrane (GO:0016324)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|primary cilium (GO:0072372)	receptor activity (GO:0004872)	p.D125E(2)		NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					AAGTACAGCTATCTCGTGGTC	0.473																																						uc003pah.1																			2	Substitution - Missense(2)		lung(2)	lung(15)|ovary(15)|large_intestine(5)|central_nervous_system(3)|skin(3)|breast(2)|upper_aerodigestive_tract(1)	44						c.(373-375)GAT>GAG		fibrocystin isoform 1							249.0	208.0	222.0					6																	51944713		2203	4300	6503	SO:0001583	missense	5314				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity	g.chr6:51944713A>C	AF480064	CCDS4935.1, CCDS4936.1	6p21.2-p12	2012-11-26	2003-04-16		ENSG00000170927	ENSG00000170927			9016	protein-coding gene	gene with protein product	"""tigmin"", ""polyductin"", ""fibrocystin"""	606702	"""TIG multiple domains 1"""	TIGM1		9503014	Standard	NM_138694		Approved	ARPKD, FCYT	uc003pah.1	P08F94	OTTHUMG00000014841	ENST00000371117.3:c.375T>G	6.37:g.51944713A>C	ENSP00000360158:p.Asp125Glu					PKHD1_uc003pai.2_Missense_Mutation_p.D125E	p.D125E	NM_138694	NP_619639	P08F94	PKHD1_HUMAN			5	651	-	Lung NSC(77;0.0605)		125			Extracellular (Potential).		Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Missense_Mutation	SNP	ENST00000371117.3	37	c.375T>G	CCDS4935.1	.	.	.	.	.	.	.	.	.	.	G	6.632	0.485064	0.12641	.	.	ENSG00000170927	ENST00000371117;ENST00000340994;ENST00000393616	D;D	0.86297	-1.9;-2.1	5.31	3.46	0.39613	.	0.279351	0.30575	N	0.009324	T	0.62085	0.2399	L	0.52011	1.625	0.09310	N	1	P;B	0.35155	0.487;0.236	B;B	0.30943	0.122;0.056	T	0.52193	-0.8608	10	0.22109	T	0.4	.	2.4807	0.04587	0.2315:0.1281:0.5087:0.1316	.	125;125	P08F94-2;P08F94	.;PKHD1_HUMAN	E	125	ENSP00000360158:D125E;ENSP00000341097:D125E	ENSP00000341097:D125E	D	-	3	2	PKHD1	52052672	0.067000	0.21026	0.084000	0.20598	0.023000	0.10783	-0.018000	0.12568	0.715000	0.32103	-0.119000	0.15052	GAT		PASS	0.473	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040893.1	NM_138694		43	397	43	397	---	---	---	---
LGSN	51557	broad.mit.edu	37	6	63995564	63995564	+	Missense_Mutation	SNP	C	C	G			TCGA-34-2608-01A-02D-1522-08	TCGA-34-2608-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3c90209b-b6f6-40b2-a374-6cd37d6d3895	ca1f5f6f-bef8-49af-8bd0-c8beb0c4c53b	g.chr6:63995564C>G	ENST00000370657.4	-	3	291	c.258G>C	c.(256-258)caG>caC	p.Q86H	LGSN_ENST00000370658.5_Missense_Mutation_p.Q86H			Q5TDP6	LGSN_HUMAN	lengsin, lens protein with glutamine synthetase domain	86					glutamine biosynthetic process (GO:0006542)	plasma membrane (GO:0005886)	glutamate-ammonia ligase activity (GO:0004356)	p.Q86H(1)		NS(1)|endometrium(2)|large_intestine(5)|lung(16)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						ATCGTACAAACTGGAGGCGAT	0.443																																						uc003peh.2																			1	Substitution - Missense(1)		lung(1)	skin(2)	2						c.(256-258)CAG>CAC		lengsin, lens protein with glutamine synthetase	L-Glutamic Acid(DB00142)						119.0	100.0	106.0					6																	63995564		2203	4300	6503	SO:0001583	missense	51557				glutamine biosynthetic process		glutamate-ammonia ligase activity	g.chr6:63995564C>G	AF242388	CCDS4964.1, CCDS55027.1	6q12	2013-09-19	2008-09-19	2008-09-19	ENSG00000146166	ENSG00000146166			21016	protein-coding gene	gene with protein product		611470	"""glutamate-ammonia ligase (glutamine synthetase) domain containing 1"""	GLULD1		12107412	Standard	NM_016571		Approved	LGS	uc003peh.3	Q5TDP6	OTTHUMG00000014946	ENST00000370657.4:c.258G>C	6.37:g.63995564C>G	ENSP00000359691:p.Gln86His					LGSN_uc003pei.2_Missense_Mutation_p.Q86H|LGSN_uc003pej.1_3'UTR	p.Q86H	NM_016571	NP_057655	Q5TDP6	LGSN_HUMAN			3	292	-			86					A1L421|Q0PVN9|Q0PVP0|Q9NYJ0	Missense_Mutation	SNP	ENST00000370657.4	37	c.258G>C	CCDS4964.1	.	.	.	.	.	.	.	.	.	.	C	7.390	0.630589	0.14322	.	.	ENSG00000146166	ENST00000370658;ENST00000370657	T;T	0.44881	0.91;0.91	5.61	2.44	0.29823	Glutamine synthetase, beta-Grasp (2);	0.269566	0.41097	D	0.000953	T	0.06781	0.0173	N	0.01576	-0.805	0.35266	D	0.780042	B;B	0.29188	0.236;0.002	B;B	0.30943	0.122;0.007	T	0.06499	-1.0823	10	0.56958	D	0.05	-19.8503	6.8362	0.23937	0.2158:0.6303:0.0:0.1539	.	86;86	Q5TDP6-2;Q5TDP6	.;LGSN_HUMAN	H	86	ENSP00000359692:Q86H;ENSP00000359691:Q86H	ENSP00000359691:Q86H	Q	-	3	2	LGSN	64053523	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	1.551000	0.36233	0.857000	0.35407	0.655000	0.94253	CAG		PASS	0.443	LGSN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041076.2	NM_016571		14	98	14	98	---	---	---	---
COL12A1	1303	broad.mit.edu	37	6	75799856	75799856	+	Missense_Mutation	SNP	G	G	C			TCGA-34-2608-01A-02D-1522-08	TCGA-34-2608-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3c90209b-b6f6-40b2-a374-6cd37d6d3895	ca1f5f6f-bef8-49af-8bd0-c8beb0c4c53b	g.chr6:75799856G>C	ENST00000322507.8	-	63	9220	c.8911C>G	c.(8911-8913)Cca>Gca	p.P2971A	COL12A1_ENST00000345356.6_Missense_Mutation_p.P1807A|COL12A1_ENST00000416123.2_Missense_Mutation_p.P2895A|COL12A1_ENST00000511023.1_5'UTR|COL12A1_ENST00000483888.2_Missense_Mutation_p.P2967A	NM_004370.5	NP_004361.3	Q99715	COCA1_HUMAN	collagen, type XII, alpha 1	2971	Collagen-like 4.|Triple-helical region (COL1) with 2 imperfections.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|skeletal system development (GO:0001501)	collagen type XII trimer (GO:0005595)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|vesicle (GO:0031982)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)	p.P2971A(1)		breast(7)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(44)|liver(1)|lung(77)|ovary(7)|prostate(3)|skin(4)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(2)	169						TGCATCCCTGGTGTGCCCGGG	0.627																																						uc003phs.2																			1	Substitution - Missense(1)		lung(1)	ovary(6)|large_intestine(1)|breast(1)|skin(1)	9						c.(8911-8913)CCA>GCA		collagen, type XII, alpha 1 long isoform							86.0	96.0	93.0					6																	75799856		1852	4090	5942	SO:0001583	missense	1303				cell adhesion|collagen fibril organization|skeletal system development	collagen type XII|extracellular space	extracellular matrix structural constituent conferring tensile strength	g.chr6:75799856G>C	U73779	CCDS43481.1, CCDS43482.1	6q12-q13	2013-02-11	2003-07-24		ENSG00000111799	ENSG00000111799		"""Proteoglycans / Extracellular Matrix : Collagen proteoglycans"", ""Collagens"", ""Fibronectin type III domain containing"""	2188	protein-coding gene	gene with protein product	"""collagen type XII proteoglycan"""	120320	"""collagen, type XII, alpha 1-like"""	COL12A1L		9143499	Standard	XM_006715334		Approved		uc003phs.3	Q99715	OTTHUMG00000015051	ENST00000322507.8:c.8911C>G	6.37:g.75799856G>C	ENSP00000325146:p.Pro2971Ala					COL12A1_uc003pht.2_Missense_Mutation_p.P1807A	p.P2971A	NM_004370	NP_004361	Q99715	COCA1_HUMAN			63	9077	-			2971			Triple-helical region (COL1) with 2 imperfections.		O43853|Q15955|Q5VYK1|Q5VYK2|Q71UR3|Q99716	Missense_Mutation	SNP	ENST00000322507.8	37	c.8911C>G	CCDS43482.1	.	.	.	.	.	.	.	.	.	.	G	18.57	3.652818	0.67472	.	.	ENSG00000111799	ENST00000322507;ENST00000425443;ENST00000432784;ENST00000345356;ENST00000416123;ENST00000483888	D;D;D;D;D	0.93712	-3.27;-3.27;-3.27;-3.27;-3.27	5.48	5.48	0.80851	.	0.000000	0.85682	D	0.000000	D	0.93390	0.7892	L	0.33093	0.98	0.58432	D	0.99999	D;D	0.64830	0.993;0.994	P;P	0.62014	0.873;0.897	D	0.93806	0.7105	10	0.56958	D	0.05	.	19.3624	0.94446	0.0:0.0:1.0:0.0	.	1807;2971	Q99715-2;Q99715	.;COCA1_HUMAN	A	2971;609;2895;1807;2895;2967	ENSP00000325146:P2971A;ENSP00000399812:P609A;ENSP00000305147:P1807A;ENSP00000412864:P2895A;ENSP00000421216:P2967A	ENSP00000325146:P2971A	P	-	1	0	COL12A1	75856576	1.000000	0.71417	0.994000	0.49952	0.813000	0.45954	7.636000	0.83301	2.567000	0.86603	0.655000	0.94253	CCA		PASS	0.627	COL12A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041249.3	NM_004370		35	312	35	312	---	---	---	---
FBXO30	84085	broad.mit.edu	37	6	146126628	146126628	+	Missense_Mutation	SNP	C	C	T			TCGA-34-2608-01A-02D-1522-08	TCGA-34-2608-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3c90209b-b6f6-40b2-a374-6cd37d6d3895	ca1f5f6f-bef8-49af-8bd0-c8beb0c4c53b	g.chr6:146126628C>T	ENST00000237281.4	-	2	1080	c.914G>A	c.(913-915)gGt>gAt	p.G305D		NM_032145.4	NP_115521.3	Q8TB52	FBX30_HUMAN	F-box protein 30	305							ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.G305D(1)		NS(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(11)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	26		Ovarian(120;0.0776)		OV - Ovarian serous cystadenocarcinoma(155;1.95e-07)|GBM - Glioblastoma multiforme(68;0.0149)		TTTTGAATCACCATGTAAATT	0.403																																						uc003qla.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|large_intestine(1)	3						c.(913-915)GGT>GAT		F-box only protein 30							125.0	119.0	121.0					6																	146126628		2203	4300	6503	SO:0001583	missense	84085						ubiquitin-protein ligase activity|zinc ion binding	g.chr6:146126628C>T	AF248640	CCDS5208.1	6q24	2008-02-05	2004-06-15		ENSG00000118496	ENSG00000118496		"""F-boxes /  ""other"""""	15600	protein-coding gene	gene with protein product		609101	"""F-box only protein, helicase, 18"""				Standard	XM_005267159		Approved	MGC21674, Fbx30	uc003qla.3	Q8TB52	OTTHUMG00000015749	ENST00000237281.4:c.914G>A	6.37:g.146126628C>T	ENSP00000237281:p.Gly305Asp					uc003qky.1_Intron	p.G305D	NM_032145	NP_115521	Q8TB52	FBX30_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;1.95e-07)|GBM - Glioblastoma multiforme(68;0.0149)	2	1113	-		Ovarian(120;0.0776)	305					Q9BXZ7	Missense_Mutation	SNP	ENST00000237281.4	37	c.914G>A	CCDS5208.1	.	.	.	.	.	.	.	.	.	.	C	0.042	-1.281092	0.01398	.	.	ENSG00000118496	ENST00000237281	T	0.17691	2.26	5.29	0.298	0.15766	.	1.121610	0.06334	N	0.706654	T	0.02767	0.0083	L	0.36672	1.1	0.22127	N	0.999344	B	0.02656	0.0	B	0.01281	0.0	T	0.40905	-0.9538	10	0.08381	T	0.77	-3.4918	2.8503	0.05555	0.1103:0.4508:0.2365:0.2024	.	305	Q8TB52	FBX30_HUMAN	D	305	ENSP00000237281:G305D	ENSP00000237281:G305D	G	-	2	0	FBXO30	146168321	0.000000	0.05858	0.946000	0.38457	0.946000	0.59487	0.028000	0.13644	0.046000	0.15833	0.655000	0.94253	GGT		PASS	0.403	FBXO30-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042570.2			13	263	13	263	---	---	---	---
NOX3	50508	broad.mit.edu	37	6	155750042	155750042	+	Missense_Mutation	SNP	G	G	T			TCGA-34-2608-01A-02D-1522-08	TCGA-34-2608-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3c90209b-b6f6-40b2-a374-6cd37d6d3895	ca1f5f6f-bef8-49af-8bd0-c8beb0c4c53b	g.chr6:155750042G>T	ENST00000159060.2	-	9	1133	c.1031C>A	c.(1030-1032)cCc>cAc	p.P344H		NM_015718.2	NP_056533.1	Q9HBY0	NOX3_HUMAN	NADPH oxidase 3	344	FAD-binding FR-type. {ECO:0000255|PROSITE-ProRule:PRU00716}.				detection of gravity (GO:0009590)|otolith development (GO:0048840)|superoxide anion generation (GO:0042554)|temperature homeostasis (GO:0001659)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|NADPH oxidase complex (GO:0043020)	superoxide-generating NADPH oxidase activity (GO:0016175)	p.P344H(1)		cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(16)|ovary(1)|pancreas(1)|prostate(4)|upper_aerodigestive_tract(1)	45		Breast(66;0.0183)		OV - Ovarian serous cystadenocarcinoma(155;2.18e-12)|BRCA - Breast invasive adenocarcinoma(81;0.00815)		GTCCTCCTGGGGGGCAGAGGT	0.607																																						uc003qqm.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1030-1032)CCC>CAC		NADPH oxidase 3							61.0	65.0	63.0					6																	155750042		2203	4300	6503	SO:0001583	missense	50508						electron carrier activity|flavin adenine dinucleotide binding|iron ion binding	g.chr6:155750042G>T	AF190122	CCDS5250.1	6q25.3	2008-05-15			ENSG00000074771	ENSG00000074771			7890	protein-coding gene	gene with protein product		607105				11376945	Standard	NM_015718		Approved	GP91-3	uc003qqm.3	Q9HBY0	OTTHUMG00000015883	ENST00000159060.2:c.1031C>A	6.37:g.155750042G>T	ENSP00000159060:p.Pro344His						p.P344H	NM_015718	NP_056533	Q9HBY0	NOX3_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;2.18e-12)|BRCA - Breast invasive adenocarcinoma(81;0.00815)	9	1134	-		Breast(66;0.0183)	344			Extracellular (Potential).|FAD-binding FR-type.		Q9HBJ9	Missense_Mutation	SNP	ENST00000159060.2	37	c.1031C>A	CCDS5250.1	.	.	.	.	.	.	.	.	.	.	G	27.8	4.865449	0.91511	.	.	ENSG00000074771	ENST00000159060	T	0.19394	2.15	5.78	5.78	0.91487	Riboflavin synthase-like beta-barrel (1);FAD-binding 8 (1);Ferredoxin reductase-type FAD-binding domain (1);	0.000000	0.64402	D	0.000008	T	0.53753	0.1816	M	0.93062	3.375	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.64807	-0.6320	10	0.87932	D	0	-19.9519	20.0172	0.97481	0.0:0.0:1.0:0.0	.	344	Q9HBY0	NOX3_HUMAN	H	344	ENSP00000159060:P344H	ENSP00000159060:P344H	P	-	2	0	NOX3	155791734	1.000000	0.71417	0.814000	0.32528	0.979000	0.70002	9.437000	0.97535	2.731000	0.93534	0.557000	0.71058	CCC		PASS	0.607	NOX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042819.1			16	160	16	160	---	---	---	---
PARK2	5071	broad.mit.edu	37	6	162475185	162475185	+	Missense_Mutation	SNP	C	C	T			TCGA-34-2608-01A-02D-1522-08	TCGA-34-2608-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3c90209b-b6f6-40b2-a374-6cd37d6d3895	ca1f5f6f-bef8-49af-8bd0-c8beb0c4c53b	g.chr6:162475185C>T	ENST00000366898.1	-	5	658	c.556G>A	c.(556-558)Gtt>Att	p.V186I	PARK2_ENST00000366896.1_Intron|PARK2_ENST00000338468.3_5'UTR|PARK2_ENST00000366892.1_Missense_Mutation_p.V186I|PARK2_ENST00000366894.1_5'UTR|PARK2_ENST00000366897.1_Intron	NM_004562.2	NP_004553.2	O60260	PRKN2_HUMAN	parkin RBR E3 ubiquitin protein ligase	186					adult locomotory behavior (GO:0008344)|aggresome assembly (GO:0070842)|cell death (GO:0008219)|cellular protein catabolic process (GO:0044257)|cellular response to dopamine (GO:1903351)|cellular response to manganese ion (GO:0071287)|cellular response to toxic substance (GO:0097237)|cellular response to unfolded protein (GO:0034620)|central nervous system development (GO:0007417)|dopamine metabolic process (GO:0042417)|dopamine uptake involved in synaptic transmission (GO:0051583)|learning (GO:0007612)|mitochondrion degradation (GO:0000422)|negative regulation of actin filament bundle assembly (GO:0032232)|negative regulation of cell death (GO:0060548)|negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902236)|negative regulation of glucokinase activity (GO:0033132)|negative regulation of insulin secretion (GO:0046676)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of neuron death (GO:1901215)|negative regulation of oxidative stress-induced cell death (GO:1903202)|negative regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway (GO:1903377)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|norepinephrine metabolic process (GO:0042415)|positive regulation of DNA binding (GO:0043388)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of mitochondrial fusion (GO:0010636)|positive regulation of proteasomal protein catabolic process (GO:1901800)|positive regulation of protein linear polyubiquitination (GO:1902530)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor-mediated signaling pathway (GO:1903265)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein autoubiquitination (GO:0051865)|protein K27-linked ubiquitination (GO:0044314)|protein K29-linked ubiquitination (GO:0035519)|protein K48-linked ubiquitination (GO:0070936)|protein K6-linked ubiquitination (GO:0085020)|protein K63-linked ubiquitination (GO:0070534)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of autophagy (GO:0010506)|regulation of dopamine secretion (GO:0014059)|regulation of glucose metabolic process (GO:0010906)|regulation of lipid transport (GO:0032368)|regulation of mitochondrion degradation (GO:1903146)|regulation of mitochondrion organization (GO:0010821)|regulation of neurotransmitter secretion (GO:0046928)|regulation of reactive oxygen species metabolic process (GO:2000377)|regulation of synaptic vesicle transport (GO:1902803)|response to endoplasmic reticulum stress (GO:0034976)|startle response (GO:0001964)|synaptic transmission, glutamatergic (GO:0035249)|transcription, DNA-templated (GO:0006351)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|Lewy body (GO:0097413)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|Parkin-FBXW7-Cul1 ubiquitin ligase complex (GO:1990452)|perinuclear region of cytoplasm (GO:0048471)|ubiquitin ligase complex (GO:0000151)	chaperone binding (GO:0051087)|cullin family protein binding (GO:0097602)|F-box domain binding (GO:1990444)|G-protein coupled receptor binding (GO:0001664)|heat shock protein binding (GO:0031072)|Hsp70 protein binding (GO:0030544)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|ligase activity (GO:0016874)|PDZ domain binding (GO:0030165)|protein kinase binding (GO:0019901)|SH3 domain binding (GO:0017124)|ubiquitin binding (GO:0043130)|ubiquitin conjugating enzyme binding (GO:0031624)|ubiquitin protein ligase activity (GO:0061630)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|ubiquitin-specific protease binding (GO:1990381)|zinc ion binding (GO:0008270)	p.V186I(1)		breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(21)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	39		all_cancers(1;8.13e-65)|all_epithelial(1;5.77e-64)|Colorectal(1;9.65e-15)|all_lung(1;1.66e-13)|Lung NSC(1;7.54e-11)|Melanoma(1;1.75e-09)|Breast(66;7.81e-05)|Ovarian(120;0.000981)|Prostate(117;0.0288)|Esophageal squamous(34;0.102)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0663)|all cancers(1;1.9e-63)|Epithelial(1;1.5e-59)|Colorectal(1;2.16e-23)|OV - Ovarian serous cystadenocarcinoma(65;3.53e-20)|COAD - Colon adenocarcinoma(1;2.11e-15)|STAD - Stomach adenocarcinoma(1;4.64e-07)|BRCA - Breast invasive adenocarcinoma(81;1.49e-06)|READ - Rectum adenocarcinoma(1;2.95e-06)|GBM - Glioblastoma multiforme(2;7.23e-06)|Lung(1;0.00163)|KIRC - Kidney renal clear cell carcinoma(4;0.00371)|LUSC - Lung squamous cell carcinoma(1;0.00442)|Kidney(4;0.0046)		GGAATTAAAACATCATCCCAG	0.398																																						uc003qtx.3																			1	Substitution - Missense(1)		lung(1)	upper_aerodigestive_tract(1)	1						c.(556-558)GTT>ATT		parkin isoform 1							126.0	109.0	115.0					6																	162475185		2203	4300	6503	SO:0001583	missense	5071				aggresome assembly|central nervous system development|mitochondrion degradation|negative regulation of actin filament bundle assembly|negative regulation of cell death|negative regulation of protein phosphorylation|negative regulation of release of cytochrome c from mitochondria|neuron death|positive regulation of I-kappaB kinase/NF-kappaB cascade|protein autoubiquitination|protein K48-linked ubiquitination|protein K63-linked ubiquitination|protein monoubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|regulation of autophagy|regulation of reactive oxygen species metabolic process	aggresome|cytosol|endoplasmic reticulum|Golgi apparatus|mitochondrion|nucleus|perinuclear region of cytoplasm	chaperone binding|PDZ domain binding|protein kinase binding|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr6:162475185C>T		CCDS5281.1, CCDS5282.1, CCDS5283.1	6q25.2-q27	2013-10-03	2013-10-03		ENSG00000185345	ENSG00000185345		"""Parkinson disease"""	8607	protein-coding gene	gene with protein product	"""E3 ubiquitin ligase"""	602544	"""Parkinson disease (autosomal recessive, juvenile) 2, parkin"", ""parkinson protein 2, E3 ubiquitin protein ligase (parkin)"""			9560156, 9570960	Standard	NM_004562		Approved	PDJ, AR-JP, parkin	uc003qtx.4	O60260	OTTHUMG00000015970	ENST00000366898.1:c.556G>A	6.37:g.162475185C>T	ENSP00000355865:p.Val186Ile					PARK2_uc003qtv.3_RNA|PARK2_uc010kkd.2_5'UTR|PARK2_uc003qtw.3_5'UTR|PARK2_uc003qty.3_Intron|PARK2_uc003qtz.3_Intron|PARK2_uc010kke.1_Missense_Mutation_p.V186I	p.V186I	NM_004562	NP_004553	O60260	PRKN2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (4;0.0663)|all cancers(1;1.9e-63)|Epithelial(1;1.5e-59)|Colorectal(1;2.16e-23)|OV - Ovarian serous cystadenocarcinoma(65;3.53e-20)|COAD - Colon adenocarcinoma(1;2.11e-15)|STAD - Stomach adenocarcinoma(1;4.64e-07)|BRCA - Breast invasive adenocarcinoma(81;1.49e-06)|READ - Rectum adenocarcinoma(1;2.95e-06)|GBM - Glioblastoma multiforme(2;7.23e-06)|Lung(1;0.00163)|KIRC - Kidney renal clear cell carcinoma(4;0.00371)|LUSC - Lung squamous cell carcinoma(1;0.00442)|Kidney(4;0.0046)	5	690	-		all_cancers(1;8.13e-65)|all_epithelial(1;5.77e-64)|Colorectal(1;9.65e-15)|all_lung(1;1.66e-13)|Lung NSC(1;7.54e-11)|Melanoma(1;1.75e-09)|Breast(66;7.81e-05)|Ovarian(120;0.000981)|Prostate(117;0.0288)|Esophageal squamous(34;0.102)	186					A3FG77|A8K975|D3JZW7|D3K2X0|Q5TFV8|Q5VVX4|Q6Q2I6|Q8NI41|Q8NI43|Q8NI44|Q8WW07	Missense_Mutation	SNP	ENST00000366898.1	37	c.556G>A	CCDS5281.1	.	.	.	.	.	.	.	.	.	.	C	20.8	4.044715	0.75732	.	.	ENSG00000185345	ENST00000366898;ENST00000366892;ENST00000366895	D;D	0.94497	-3.28;-3.44	5.39	5.39	0.77823	.	0.000000	0.64402	D	0.000001	D	0.96253	0.8778	M	0.72894	2.215	0.41392	D	0.987627	D;D	0.76494	0.999;0.988	D;P	0.81914	0.995;0.695	D	0.96385	0.9284	10	0.59425	D	0.04	.	14.6712	0.68945	0.0:1.0:0.0:0.0	.	186;186	O60260-5;O60260	.;PRKN2_HUMAN	I	186;186;107	ENSP00000355865:V186I;ENSP00000355858:V186I	ENSP00000355858:V186I	V	-	1	0	PARK2	162395175	1.000000	0.71417	0.998000	0.56505	0.972000	0.66771	3.953000	0.56699	2.525000	0.85131	0.655000	0.94253	GTT		PASS	0.398	PARK2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042995.1			10	132	10	132	---	---	---	---
MICALL2	79778	broad.mit.edu	37	7	1478561	1478561	+	Missense_Mutation	SNP	C	C	A			TCGA-34-2608-01A-02D-1522-08	TCGA-34-2608-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3c90209b-b6f6-40b2-a374-6cd37d6d3895	ca1f5f6f-bef8-49af-8bd0-c8beb0c4c53b	g.chr7:1478561C>A	ENST00000297508.7	-	10	2212	c.2037G>T	c.(2035-2037)tgG>tgT	p.W679C	MICALL2_ENST00000405088.4_Missense_Mutation_p.W467C|MICALL2_ENST00000471899.1_5'UTR	NM_182924.3	NP_891554.1	Q8IY33	MILK2_HUMAN	MICAL-like 2	679	Mediates targeting to the cell plasma membrane. {ECO:0000250}.				actin cytoskeleton reorganization (GO:0031532)|actin filament polymerization (GO:0030041)|endocytic recycling (GO:0032456)|neuron projection development (GO:0031175)|substrate adhesion-dependent cell spreading (GO:0034446)|tight junction assembly (GO:0070830)	cell-cell junction (GO:0005911)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)|stress fiber (GO:0001725)|tight junction (GO:0005923)	actin filament binding (GO:0051015)|filamin binding (GO:0031005)|zinc ion binding (GO:0008270)	p.W679C(1)		breast(3)|central_nervous_system(1)|endometrium(1)|kidney(2)|lung(8)|ovary(2)|skin(2)	19		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;6.01e-15)		CCGGCCGAAGCCAGTTGTCAC	0.677																																						uc003skj.3																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(1)	1						c.(2035-2037)TGG>TGT		MICAL-like 2 isoform 1							40.0	43.0	42.0					7																	1478561		2202	4300	6502	SO:0001583	missense	79778					cytoplasm|cytoskeleton	zinc ion binding	g.chr7:1478561C>A	BC037988	CCDS5324.1	7p22.3	2006-11-24			ENSG00000164877	ENSG00000164877			29672	protein-coding gene	gene with protein product	"""junctional Rab13-binding protein"""					12110185, 16525024	Standard	NM_182924		Approved	MGC46023, FLJ23471, MICAL-L2, JRAB	uc003skj.4	Q8IY33	OTTHUMG00000119021	ENST00000297508.7:c.2037G>T	7.37:g.1478561C>A	ENSP00000297508:p.Trp679Cys					MICALL2_uc003skh.3_5'UTR|MICALL2_uc003ski.3_Missense_Mutation_p.W166C	p.W679C	NM_182924	NP_891554	Q8IY33	MILK2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (27;0.0178)|OV - Ovarian serous cystadenocarcinoma(56;6.01e-15)	10	2184	-		Ovarian(82;0.0253)	679					D3YTD2|Q7RTP4|Q7Z655|Q8TEQ4|Q9H5F9	Missense_Mutation	SNP	ENST00000297508.7	37	c.2037G>T	CCDS5324.1	.	.	.	.	.	.	.	.	.	.	C	12.65	2.002386	0.35320	.	.	ENSG00000164877	ENST00000405088;ENST00000297508	T;T	0.70749	2.33;-0.51	3.08	3.08	0.35506	.	0.000000	0.33005	N	0.005398	T	0.74238	0.3690	L	0.36672	1.1	0.53688	D	0.999979	D;D	0.89917	1.0;1.0	D;D	0.87578	0.981;0.998	T	0.73375	-0.4002	10	0.44086	T	0.13	.	10.3249	0.43787	0.0:1.0:0.0:0.0	.	679;467	Q8IY33;D3YTD2	MILK2_HUMAN;.	C	467;679	ENSP00000385928:W467C;ENSP00000297508:W679C	ENSP00000297508:W679C	W	-	3	0	MICALL2	1445087	1.000000	0.71417	0.850000	0.33497	0.045000	0.14185	3.558000	0.53749	1.661000	0.50771	0.462000	0.41574	TGG		PASS	0.677	MICALL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239223.2	NM_182924		11	56	11	56	---	---	---	---
MMD2	221938	broad.mit.edu	37	7	4947058	4947058	+	Missense_Mutation	SNP	G	G	A			TCGA-34-2608-01A-02D-1522-08	TCGA-34-2608-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3c90209b-b6f6-40b2-a374-6cd37d6d3895	ca1f5f6f-bef8-49af-8bd0-c8beb0c4c53b	g.chr7:4947058G>A	ENST00000404774.3	-	7	976	c.782C>T	c.(781-783)cCc>cTc	p.P261L	MMD2_ENST00000406755.1_3'UTR|MMD2_ENST00000401401.3_Missense_Mutation_p.P237L	NM_001100600.1	NP_001094070.1	Q8IY49	PAQRA_HUMAN	monocyte to macrophage differentiation-associated 2	261						Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)		p.P237L(1)|p.P261L(1)		central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(11)	14		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.097)|OV - Ovarian serous cystadenocarcinoma(56;3.4e-14)		CAGGGTGCTGGGCAGATAGAG	0.537																																						uc003sno.3																			2	Substitution - Missense(2)		lung(2)	central_nervous_system(1)	1						c.(781-783)CCC>CTC		monocyte to macrophage							101.0	101.0	101.0					7																	4947058		2011	4175	6186	SO:0001583	missense	221938					integral to membrane	receptor activity	g.chr7:4947058G>A	BC037881	CCDS47529.1, CCDS47530.1, CCDS59047.1	7p22	2004-06-23			ENSG00000136297	ENSG00000136297			30133	protein-coding gene	gene with protein product		614581				12477932	Standard	NM_198403		Approved	PAQR10	uc003sno.4	Q8IY49	OTTHUMG00000151844	ENST00000404774.3:c.782C>T	7.37:g.4947058G>A	ENSP00000384690:p.Pro261Leu					MMD2_uc003snl.1_Intron|MMD2_uc003snn.3_Missense_Mutation_p.P237L|MMD2_uc010ksq.2_3'UTR	p.P261L	NM_001100600	NP_001094070	Q8IY49	PAQRA_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.097)|OV - Ovarian serous cystadenocarcinoma(56;3.4e-14)	7	978	-		Ovarian(82;0.0175)	261			Extracellular (Potential).		B5MBW4|Q6NVU5|Q6TCH0	Missense_Mutation	SNP	ENST00000404774.3	37	c.782C>T	CCDS47529.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.120662	0.77323	.	.	ENSG00000136297	ENST00000404774;ENST00000401401	.	.	.	5.43	5.43	0.79202	.	0.249150	0.34777	N	0.003691	T	0.68595	0.3018	M	0.81682	2.555	0.80722	D	1	P;B	0.38020	0.615;0.38	B;B	0.38842	0.266;0.283	T	0.74012	-0.3801	9	0.66056	D	0.02	-42.4768	18.2912	0.90131	0.0:0.0:1.0:0.0	.	261;237	Q8IY49;Q8IY49-2	PAQRA_HUMAN;.	L	261;237	.	ENSP00000384141:P237L	P	-	2	0	MMD2	4913584	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	7.145000	0.77365	2.552000	0.86080	0.650000	0.86243	CCC		PASS	0.537	MMD2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324136.1	NM_198403		26	174	26	174	---	---	---	---
GRB10	2887	broad.mit.edu	37	7	50660793	50660793	+	Silent	SNP	G	G	A	rs375434973		TCGA-34-2608-01A-02D-1522-08	TCGA-34-2608-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3c90209b-b6f6-40b2-a374-6cd37d6d3895	ca1f5f6f-bef8-49af-8bd0-c8beb0c4c53b	g.chr7:50660793G>A	ENST00000401949.1	-	19	2110	c.1641C>T	c.(1639-1641)tgC>tgT	p.C547C	GRB10_ENST00000402497.1_Silent_p.C489C|GRB10_ENST00000403097.1_Silent_p.C541C|GRB10_ENST00000439599.1_Silent_p.C541C|GRB10_ENST00000398812.2_Silent_p.C547C|GRB10_ENST00000398810.2_Silent_p.C489C|GRB10_ENST00000402578.1_Silent_p.C489C|GRB10_ENST00000407526.1_Silent_p.C489C|GRB10_ENST00000335866.3_Silent_p.C489C|GRB10_ENST00000357271.5_Silent_p.C501C|GRB10_ENST00000406641.1_Silent_p.C489C			Q13322	GRB10_HUMAN	growth factor receptor-bound protein 10	547	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				insulin receptor signaling pathway (GO:0008286)|insulin-like growth factor receptor signaling pathway (GO:0048009)|negative regulation of glucose import (GO:0046325)|negative regulation of glycogen biosynthetic process (GO:0045719)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of phosphorylation (GO:0042326)|negative regulation of Wnt signaling pathway (GO:0030178)|positive regulation of phosphorylation (GO:0042327)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|response to insulin (GO:0032868)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	insulin receptor binding (GO:0005158)|SH3/SH2 adaptor activity (GO:0005070)	p.C547C(1)|p.C541C(1)		NS(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(2)|lung(19)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	41	Glioma(55;0.08)|all_neural(89;0.245)					CGTCGTCCTCGCACTGGAGAG	0.552									Russell-Silver syndrome																													uc003tpi.2																			2	Substitution - coding silent(2)		lung(2)	lung(3)|ovary(2)|upper_aerodigestive_tract(1)	6						c.(1639-1641)TGC>TGT		growth factor receptor-bound protein 10 isoform		G	,,,	0,4152		0,0,2076	86.0	88.0	87.0		1503,1467,1467,1641	-5.4	0.5	7		87	1,8429		0,1,4214	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	GRB10	NM_001001549.2,NM_001001550.2,NM_001001555.2,NM_005311.4	,,,	0,1,6290	AA,AG,GG		0.0119,0.0,0.0079	,,,	501/549,489/537,489/537,547/595	50660793	1,12581	2076	4215	6291	SO:0001819	synonymous_variant	2887	Russell-Silver_syndrome	Familial Cancer Database	Silver-Russell Dwarfism, Silver-Russell syndrome, SRS, Russel-Silver Dwarfism	insulin receptor signaling pathway|insulin receptor signaling pathway|negative regulation of glucose import|negative regulation of glycogen biosynthetic process|negative regulation of insulin receptor signaling pathway|negative regulation of Wnt receptor signaling pathway|positive regulation of phosphorylation|positive regulation of vascular endothelial growth factor receptor signaling pathway	cytosol|plasma membrane	insulin receptor binding|insulin receptor binding|SH3/SH2 adaptor activity	g.chr7:50660793G>A		CCDS43582.1, CCDS43583.1, CCDS47586.1	7p12.2	2013-02-14			ENSG00000106070	ENSG00000106070		"""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	4564	protein-coding gene	gene with protein product		601523					Standard	NM_005311		Approved		uc003tpi.2	Q13322	OTTHUMG00000150622	ENST00000401949.1:c.1641C>T	7.37:g.50660793G>A						GRB10_uc003tph.3_Silent_p.C489C|GRB10_uc003tpj.2_Silent_p.C501C|GRB10_uc003tpk.2_Silent_p.C547C|GRB10_uc010kzb.2_Silent_p.C489C|GRB10_uc003tpl.2_Silent_p.C541C|GRB10_uc003tpm.2_Silent_p.C489C|GRB10_uc003tpn.2_Silent_p.C489C	p.C547C	NM_005311	NP_005302	Q13322	GRB10_HUMAN			16	1672	-	Glioma(55;0.08)|all_neural(89;0.245)		547			SH2.		A4D258|A7VJ95|A8K0E6|D3DVM9|O00427|O00701|O75222|Q92606|Q92907|Q92948	Silent	SNP	ENST00000401949.1	37	c.1641C>T	CCDS43582.1																																																																																				PASS	0.552	GRB10-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319157.1			13	101	13	101	---	---	---	---
C7orf62	219557	broad.mit.edu	37	7	88424009	88424009	+	Missense_Mutation	SNP	T	T	C			TCGA-34-2608-01A-02D-1522-08	TCGA-34-2608-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3c90209b-b6f6-40b2-a374-6cd37d6d3895	ca1f5f6f-bef8-49af-8bd0-c8beb0c4c53b	g.chr7:88424009T>C	ENST00000297203.2	-	2	433	c.248A>G	c.(247-249)gAa>gGa	p.E83G	ZNF804B_ENST00000333190.4_Intron	NM_152706.3	NP_689919.1	Q8TBZ9	CG062_HUMAN	chromosome 7 open reading frame 62	83								p.E83G(1)		NS(1)|breast(1)|endometrium(3)|large_intestine(8)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	30						TGTCACTGCTTCTCCTAGGTG	0.403																																						uc003ujv.2																			1	Substitution - Missense(1)		lung(1)		0						c.(247-249)GAA>GGA		hypothetical protein LOC219557							101.0	97.0	98.0					7																	88424009		2203	4300	6503	SO:0001583	missense	219557							g.chr7:88424009T>C	BC028365	CCDS34678.1	7q21.13	2013-10-11			ENSG00000164645	ENSG00000164645			22402	protein-coding gene	gene with protein product						12690205	Standard	NM_152706		Approved	MGC26647	uc003ujv.3	Q8TBZ9	OTTHUMG00000153859	ENST00000297203.2:c.248A>G	7.37:g.88424009T>C	ENSP00000297203:p.Glu83Gly					ZNF804B_uc011khi.1_Intron	p.E83G	NM_152706	NP_689919	Q8TBZ9	CG062_HUMAN	STAD - Stomach adenocarcinoma(171;0.229)		2	430	-	Esophageal squamous(14;0.00802)|all_hematologic(106;0.109)|Lung NSC(181;0.168)|all_lung(186;0.169)		83						Missense_Mutation	SNP	ENST00000297203.2	37	c.248A>G	CCDS34678.1	.	.	.	.	.	.	.	.	.	.	T	16.31	3.087337	0.55968	.	.	ENSG00000164645	ENST00000297203	T	0.21543	2.0	6.16	6.16	0.99307	.	0.054403	0.64402	D	0.000001	T	0.47911	0.1471	M	0.78049	2.395	0.46356	D	0.999002	D	0.89917	1.0	D	0.91635	0.999	T	0.50432	-0.8829	10	0.87932	D	0	-16.857	13.1979	0.59749	0.0:0.0:0.0:1.0	.	83	Q8TBZ9	CG062_HUMAN	G	83	ENSP00000297203:E83G	ENSP00000297203:E83G	E	-	2	0	C7orf62	88261945	0.996000	0.38824	0.990000	0.47175	0.191000	0.23601	4.211000	0.58507	2.367000	0.80283	0.528000	0.53228	GAA		PASS	0.403	C7orf62-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332714.1	NM_152706		3	153	3	153	---	---	---	---
ALKBH4	54784	broad.mit.edu	37	7	102098423	102098423	+	Silent	SNP	A	A	G			TCGA-34-2608-01A-02D-1522-08	TCGA-34-2608-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3c90209b-b6f6-40b2-a374-6cd37d6d3895	ca1f5f6f-bef8-49af-8bd0-c8beb0c4c53b	g.chr7:102098423A>G	ENST00000292566.3	-	3	366	c.327T>C	c.(325-327)taT>taC	p.Y109Y		NM_017621.3	NP_060091.1	Q9NXW9	ALKB4_HUMAN	alkB, alkylation repair homolog 4 (E. coli)	109					actomyosin structure organization (GO:0031032)|cleavage furrow ingression (GO:0036090)|protein demethylation (GO:0006482)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	contractile ring (GO:0070938)|cytoplasm (GO:0005737)|midbody (GO:0030496)|nucleus (GO:0005634)	actin binding (GO:0003779)|demethylase activity (GO:0032451)|metal ion binding (GO:0046872)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)	p.Y109Y(1)		kidney(1)|lung(5)|skin(2)	8						CTTTGGGGCCATAGTCCTGAA	0.537																																						uc003uzl.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(325-327)TAT>TAC		alkB, alkylation repair homolog 4							35.0	40.0	38.0					7																	102098423		2198	4298	6496	SO:0001819	synonymous_variant	54784					cytoplasm|nucleus	metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen	g.chr7:102098423A>G	BC017096	CCDS5723.1	7q22.1	2006-02-09			ENSG00000160993	ENSG00000160993		"""Alkylation repair homologs"""	21900	protein-coding gene	gene with protein product		613302					Standard	NM_017621		Approved	FLJ20013	uc003uzl.3	Q9NXW9	OTTHUMG00000157720	ENST00000292566.3:c.327T>C	7.37:g.102098423A>G						ALKBH4_uc003uzm.2_Silent_p.Y36Y	p.Y109Y	NM_017621	NP_060091	Q9NXW9	ALKB4_HUMAN			3	332	-			109					Q53H92|Q9H6A4	Silent	SNP	ENST00000292566.3	37	c.327T>C	CCDS5723.1																																																																																				PASS	0.537	ALKBH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349503.1	NM_017621		7	68	7	68	---	---	---	---
ARF5	381	broad.mit.edu	37	7	127231094	127231094	+	Silent	SNP	G	G	T			TCGA-34-2608-01A-02D-1522-08	TCGA-34-2608-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3c90209b-b6f6-40b2-a374-6cd37d6d3895	ca1f5f6f-bef8-49af-8bd0-c8beb0c4c53b	g.chr7:127231094G>T	ENST00000000233.5	+	5	562	c.408G>T	c.(406-408)gtG>gtT	p.V136V	GCC1_ENST00000497650.1_Intron|FSCN3_ENST00000265825.5_5'Flank|FSCN3_ENST00000420086.2_5'Flank	NM_001662.3	NP_001653.1	P84085	ARF5_HUMAN	ADP-ribosylation factor 5	136					GTP catabolic process (GO:0006184)|protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)|vesicle-mediated transport (GO:0016192)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)	p.V136V(1)		cervix(2)|kidney(1)|lung(10)|ovary(1)	14						CCATGCCCGTGAGCGAGCTGA	0.607																																						uc003vmb.1																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(406-408)GTG>GTT		ADP-ribosylation factor 5							114.0	108.0	110.0					7																	127231094		2203	4300	6503	SO:0001819	synonymous_variant	381				protein transport|small GTPase mediated signal transduction|vesicle-mediated transport	Golgi apparatus|perinuclear region of cytoplasm	GTP binding|GTPase activity|protein binding	g.chr7:127231094G>T		CCDS34745.1	7q31.3	2008-07-18			ENSG00000004059	ENSG00000004059		"""ADP-ribosylation factors"""	658	protein-coding gene	gene with protein product		103188				1993656	Standard	NM_001662		Approved		uc003vmb.2	P84085	OTTHUMG00000023246	ENST00000000233.5:c.408G>T	7.37:g.127231094G>T						FSCN3_uc003vmc.1_5'Flank|FSCN3_uc011kog.1_5'Flank|FSCN3_uc011koh.1_5'Flank|FSCN3_uc003vmd.1_5'Flank|FSCN3_uc010llc.1_5'Flank	p.V136V	NM_001662	NP_001653	P84085	ARF5_HUMAN			5	444	+			136					P26437	Silent	SNP	ENST00000000233.5	37	c.408G>T	CCDS34745.1																																																																																				PASS	0.607	ARF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059567.2	NM_001662		30	221	30	221	---	---	---	---
CALD1	800	broad.mit.edu	37	7	134617824	134617824	+	Silent	SNP	C	C	A	rs375816775		TCGA-34-2608-01A-02D-1522-08	TCGA-34-2608-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3c90209b-b6f6-40b2-a374-6cd37d6d3895	ca1f5f6f-bef8-49af-8bd0-c8beb0c4c53b	g.chr7:134617824C>A	ENST00000361675.2	+	5	533	c.304C>A	c.(304-306)Cgg>Agg	p.R102R	CALD1_ENST00000393118.2_Silent_p.R96R|CALD1_ENST00000424922.1_Silent_p.R96R|CALD1_ENST00000361388.2_Silent_p.R102R|CALD1_ENST00000417172.1_Silent_p.R102R|CALD1_ENST00000361901.2_Silent_p.R102R|CALD1_ENST00000543443.1_Silent_p.R107R|CALD1_ENST00000495522.1_Silent_p.R96R|CALD1_ENST00000422748.1_Silent_p.R102R			Q05682	CALD1_HUMAN	caldesmon 1	102	Myosin and calmodulin-binding. {ECO:0000250}.				cellular component movement (GO:0006928)|muscle contraction (GO:0006936)	actin cap (GO:0030478)|actin cytoskeleton (GO:0015629)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|plasma membrane (GO:0005886)	actin binding (GO:0003779)|calmodulin binding (GO:0005516)|tropomyosin binding (GO:0005523)	p.R102R(1)		NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(15)|lung(10)	43						GCGCCTGGCTCGGCGTGAGGA	0.562																																						uc003vrz.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(304-306)CGG>AGG		caldesmon 1 isoform 1							55.0	50.0	52.0					7																	134617824		2203	4300	6503	SO:0001819	synonymous_variant	800				cellular component movement|muscle contraction	cytosol|focal adhesion|myofibril	actin binding|calmodulin binding|myosin binding|tropomyosin binding	g.chr7:134617824C>A	M64110	CCDS5834.1, CCDS5835.1, CCDS5836.1, CCDS47716.1, CCDS47717.1, CCDS5836.2	7q33	2007-04-23			ENSG00000122786	ENSG00000122786			1441	protein-coding gene	gene with protein product		114213				1885618	Standard	NM_004342		Approved	CDM, H-CAD, L-CAD	uc003vrz.3	Q05682	OTTHUMG00000155407	ENST00000361675.2:c.304C>A	7.37:g.134617824C>A						CALD1_uc003vry.2_Silent_p.R102R|CALD1_uc003vsa.2_Silent_p.R102R|CALD1_uc003vsb.2_Silent_p.R102R|CALD1_uc010lmm.2_Silent_p.R102R|CALD1_uc011kpt.1_Intron|CALD1_uc003vsc.2_Silent_p.R96R|CALD1_uc003vsd.2_Silent_p.R96R|CALD1_uc011kpu.1_Silent_p.R107R|CALD1_uc011kpv.1_5'UTR|CALD1_uc003vse.2_5'UTR	p.R102R	NM_033138	NP_149129	Q05682	CALD1_HUMAN			5	763	+			102			Myosin and calmodulin-binding (By similarity).		A8K0X1|Q13978|Q13979|Q14741|Q14742|Q9UD91	Silent	SNP	ENST00000361675.2	37	c.304C>A	CCDS5835.1																																																																																				PASS	0.562	CALD1-005	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339939.1	NM_033138		9	70	9	70	---	---	---	---
MYOM2	9172	broad.mit.edu	37	8	2044123	2044123	+	Missense_Mutation	SNP	A	A	T	rs62478391		TCGA-34-2608-01A-02D-1522-08	TCGA-34-2608-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3c90209b-b6f6-40b2-a374-6cd37d6d3895	ca1f5f6f-bef8-49af-8bd0-c8beb0c4c53b	g.chr8:2044123A>T	ENST00000262113.4	+	18	2303	c.2162A>T	c.(2161-2163)aAc>aTc	p.N721I	MYOM2_ENST00000523438.1_Missense_Mutation_p.N146I	NM_003970.2	NP_003961.2	P54296	MYOM2_HUMAN	myomesin 2	721	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				muscle contraction (GO:0006936)	M band (GO:0031430)|mitochondrion (GO:0005739)|myosin filament (GO:0032982)	structural constituent of muscle (GO:0008307)	p.N721I(1)		autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)		ACGCTCCTCAACTGTGACGGC	0.602																																						uc003wpx.3																			1	Substitution - Missense(1)		lung(1)	ovary(4)|central_nervous_system(1)|skin(1)	6						c.(2161-2163)AAC>ATC		myomesin 2							140.0	125.0	130.0					8																	2044123		2203	4300	6503	SO:0001583	missense	9172				muscle contraction	myosin filament	structural constituent of muscle	g.chr8:2044123A>T		CCDS5957.1	8p23.3	2014-06-06	2012-10-17		ENSG00000036448	ENSG00000036448		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	7614	protein-coding gene	gene with protein product		603509	"""myomesin (M-protein) 2 (165kD)"", ""myomesin (M-protein) 2, 165kDa"""				Standard	XM_006716237		Approved		uc003wpx.4	P54296	OTTHUMG00000129175	ENST00000262113.4:c.2162A>T	8.37:g.2044123A>T	ENSP00000262113:p.Asn721Ile					MYOM2_uc011kwi.1_Missense_Mutation_p.N146I	p.N721I	NM_003970	NP_003961	P54296	MYOM2_HUMAN		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)	18	2300	+		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)	721			Fibronectin type-III 4.		Q7Z3Y2	Missense_Mutation	SNP	ENST00000262113.4	37	c.2162A>T	CCDS5957.1	.	.	.	.	.	.	.	.	.	.	A	14.16	2.452980	0.43531	.	.	ENSG00000036448	ENST00000262113;ENST00000523438	T;T	0.59224	0.28;0.28	5.47	4.31	0.51392	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.093959	0.64402	D	0.000001	T	0.70798	0.3265	M	0.68593	2.085	0.38913	D	0.957573	D	0.57899	0.981	D	0.65773	0.938	T	0.74272	-0.3719	10	0.72032	D	0.01	.	11.2293	0.48903	0.9282:0.0:0.0718:0.0	.	721	P54296	MYOM2_HUMAN	I	721;146	ENSP00000262113:N721I;ENSP00000428396:N146I	ENSP00000262113:N721I	N	+	2	0	MYOM2	2031530	1.000000	0.71417	0.992000	0.48379	0.262000	0.26303	2.773000	0.47686	0.909000	0.36697	0.459000	0.35465	AAC		PASS	0.602	MYOM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251249.1	NM_003970		17	146	17	146	---	---	---	---
CSMD1	64478	broad.mit.edu	37	8	2820848	2820848	+	Missense_Mutation	SNP	G	G	T			TCGA-34-2608-01A-02D-1522-08	TCGA-34-2608-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3c90209b-b6f6-40b2-a374-6cd37d6d3895	ca1f5f6f-bef8-49af-8bd0-c8beb0c4c53b	g.chr8:2820848G>T	ENST00000520002.1	-	61	9908	c.9353C>A	c.(9352-9354)tCc>tAc	p.S3118Y	CSMD1_ENST00000537824.1_Missense_Mutation_p.S3117Y|CSMD1_ENST00000542608.1_Missense_Mutation_p.S2940Y|CSMD1_ENST00000602723.1_Missense_Mutation_p.S2941Y|CSMD1_ENST00000400186.3_Missense_Mutation_p.S2941Y|CSMD1_ENST00000602557.1_Missense_Mutation_p.S3118Y			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	3118	Sushi 25. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)		p.S2846Y(1)|p.S3117Y(1)		breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		ACTTATGCTGGAGCCCCAGCG	0.552																																						uc011kwk.1																			2	Substitution - Missense(2)		lung(2)	breast(20)|large_intestine(5)	25						c.(9352-9354)TCC>TAC		CUB and Sushi multiple domains 1 precursor							126.0	134.0	131.0					8																	2820848		1964	4156	6120	SO:0001583	missense	64478					integral to membrane		g.chr8:2820848G>T			8p23.2	2012-04-17			ENSG00000183117	ENSG00000183117		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	14026	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 24"""	608397					Standard	NM_033225		Approved	KIAA1890, PPP1R24	uc022aqr.1	Q96PZ7	OTTHUMG00000163605	ENST00000520002.1:c.9353C>A	8.37:g.2820848G>T	ENSP00000430733:p.Ser3118Tyr					CSMD1_uc011kwj.1_Missense_Mutation_p.S2447Y|CSMD1_uc010lrg.2_Missense_Mutation_p.S1009Y	p.S3118Y	NM_033225	NP_150094	Q96PZ7	CSMD1_HUMAN		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)	60	9743	-		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)	3118			Sushi 25.|Extracellular (Potential).		Q0H0J5|Q96QU9|Q96RM4	Missense_Mutation	SNP	ENST00000520002.1	37	c.9353C>A		.	.	.	.	.	.	.	.	.	.	G	26.2	4.718670	0.89205	.	.	ENSG00000183117	ENST00000400186;ENST00000520002;ENST00000318252;ENST00000537824;ENST00000542608	T;T;T;T	0.68181	-0.31;-0.31;-0.31;-0.31	5.93	5.05	0.67936	Complement control module (2);Sushi/SCR/CCP (3);	0.323393	0.29015	N	0.013407	D	0.84047	0.5386	H	0.94542	3.55	0.80722	D	1	P;B;D	0.54397	0.484;0.151;0.966	B;P;P	0.57846	0.354;0.571;0.828	D	0.87545	0.2461	10	0.48119	T	0.1	.	14.8477	0.70272	0.0686:0.0:0.9314:0.0	.	3118;3118;2940	E5RIG2;Q96PZ7;F5H2I8	.;CSMD1_HUMAN;.	Y	2941;3118;2979;3117;2940	ENSP00000383047:S2941Y;ENSP00000430733:S3118Y;ENSP00000441462:S3117Y;ENSP00000446243:S2940Y	ENSP00000320445:S2979Y	S	-	2	0	CSMD1	2808255	1.000000	0.71417	0.911000	0.35937	0.975000	0.68041	9.640000	0.98453	1.496000	0.48567	0.655000	0.94253	TCC		PASS	0.552	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000374500.2	NM_033225		25	244	25	244	---	---	---	---
CSGALNACT1	55790	broad.mit.edu	37	8	19315990	19315990	+	Silent	SNP	G	G	A			TCGA-34-2608-01A-02D-1522-08	TCGA-34-2608-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3c90209b-b6f6-40b2-a374-6cd37d6d3895	ca1f5f6f-bef8-49af-8bd0-c8beb0c4c53b	g.chr8:19315990G>A	ENST00000454498.2	-	5	1811	c.798C>T	c.(796-798)atC>atT	p.I266I	CSGALNACT1_ENST00000332246.6_Silent_p.I266I|CSGALNACT1_ENST00000518542.1_5'UTR|CSGALNACT1_ENST00000544602.1_Silent_p.I266I|CSGALNACT1_ENST00000522854.1_Silent_p.I266I|CSGALNACT1_ENST00000311540.4_Silent_p.I266I	NM_001130518.1	NP_001123990.1	Q8TDX6	CGAT1_HUMAN	chondroitin sulfate N-acetylgalactosaminyltransferase 1	266					anatomical structure morphogenesis (GO:0009653)|carbohydrate metabolic process (GO:0005975)|cartilage development (GO:0051216)|cell proliferation (GO:0008283)|cell recognition (GO:0008037)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|chondroitin sulfate proteoglycan biosynthetic process (GO:0050650)|chondroitin sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process (GO:0050653)|dermatan sulfate proteoglycan biosynthetic process (GO:0050651)|endochondral ossification (GO:0001958)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process (GO:0015014)|heparin biosynthetic process (GO:0030210)|nervous system development (GO:0007399)|proteoglycan biosynthetic process (GO:0030166)|small molecule metabolic process (GO:0044281)|UDP-glucuronate metabolic process (GO:0046398)|UDP-N-acetylgalactosamine metabolic process (GO:0019276)	Golgi cisterna membrane (GO:0032580)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)|intracellular (GO:0005622)	acetylgalactosaminyltransferase activity (GO:0008376)|glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity (GO:0047238)|glucuronosyltransferase activity (GO:0015020)|glucuronylgalactosylproteoglycan 4-beta-N-acetylgalactosaminyltransferase activity (GO:0047237)|metal ion binding (GO:0046872)|peptidoglycan glycosyltransferase activity (GO:0008955)	p.I266I(1)		NS(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(15)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31				Colorectal(111;0.182)		CTAGAGGCACGATAACATTGA	0.438																																						uc011kyn.1																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(2)|ovary(1)	3						c.(796-798)ATC>ATT		chondroitin sulfate							376.0	349.0	358.0					8																	19315990		2203	4300	6503	SO:0001819	synonymous_variant	55790				anatomical structure morphogenesis|cell proliferation|cell recognition|chondroitin sulfate biosynthetic process|chondroitin sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|dermatan sulfate proteoglycan biosynthetic process|extracellular matrix organization|heparan sulfate proteoglycan biosynthetic process, polysaccharide chain biosynthetic process|heparin biosynthetic process|nervous system development|UDP-glucuronate metabolic process|UDP-N-acetylgalactosamine metabolic process	Golgi cisterna membrane|integral to Golgi membrane|soluble fraction	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|glucuronosyltransferase activity|glucuronylgalactosylproteoglycan 4-beta-N-acetylgalactosaminyltransferase activity|metal ion binding|peptidoglycan glycosyltransferase activity	g.chr8:19315990G>A	AK002126	CCDS6010.1	8p21.3	2013-02-19				ENSG00000147408		"""Beta 4-glycosyltransferases"""	24290	protein-coding gene	gene with protein product	"""chondroitin beta1,4 N-acetylgalactosaminyltransferase"""					17145758, 12446672	Standard	NM_018371		Approved	CSGalNAcT-1, FLJ11264, ChGn	uc011kyo.2	Q8TDX6		ENST00000454498.2:c.798C>T	8.37:g.19315990G>A						CSGALNACT1_uc011kyo.1_Silent_p.I266I|CSGALNACT1_uc003wzg.2_RNA|CSGALNACT1_uc011kyp.1_Silent_p.I265I|CSGALNACT1_uc003wzh.2_RNA	p.I266I	NM_001130518	NP_001123990	Q8TDX6	CGAT1_HUMAN		Colorectal(111;0.182)	5	1862	-			266			Lumenal (Potential).		B2RBE4|Q6P9G6|Q8IUF9|Q9NSQ7|Q9NUM9	Silent	SNP	ENST00000454498.2	37	c.798C>T	CCDS6010.1																																																																																				PASS	0.438	CSGALNACT1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375204.1	NM_018371		87	652	87	652	---	---	---	---
RP1	6101	broad.mit.edu	37	8	55538745	55538745	+	Missense_Mutation	SNP	C	C	G			TCGA-34-2608-01A-02D-1522-08	TCGA-34-2608-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3c90209b-b6f6-40b2-a374-6cd37d6d3895	ca1f5f6f-bef8-49af-8bd0-c8beb0c4c53b	g.chr8:55538745C>G	ENST00000220676.1	+	4	2451	c.2303C>G	c.(2302-2304)tCc>tGc	p.S768C		NM_006269.1	NP_006260.1	P56715	RP1_HUMAN	retinitis pigmentosa 1 (autosomal dominant)	768					axoneme assembly (GO:0035082)|cellular response to light stimulus (GO:0071482)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|photoreceptor cell outer segment organization (GO:0035845)|phototransduction, visible light (GO:0007603)|retinal cone cell development (GO:0046549)|retinal rod cell development (GO:0046548)|visual perception (GO:0007601)	axoneme (GO:0005930)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|photoreceptor connecting cilium (GO:0032391)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)	microtubule binding (GO:0008017)	p.S768F(1)|p.S768C(1)		NS(4)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(29)|lung(69)|ovary(6)|pancreas(1)|prostate(9)|skin(17)|upper_aerodigestive_tract(3)|urinary_tract(2)	169		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)			ACTCAAAATTCCAAGGTTCAA	0.289																																					Colon(91;1014 1389 7634 14542 40420)	uc003xsd.1																			2	Substitution - Missense(2)		lung(1)|skin(1)	skin(7)|ovary(4)|pancreas(1)	12						c.(2302-2304)TCC>TGC		retinitis pigmentosa RP1 protein							24.0	28.0	26.0					8																	55538745		2149	4272	6421	SO:0001583	missense	6101				axoneme assembly|intracellular signal transduction|photoreceptor cell maintenance|photoreceptor cell outer segment organization|phototransduction, visible light|retinal cone cell development|retinal rod cell development	cilium axoneme|cytoplasm|microtubule|microtubule associated complex|photoreceptor connecting cilium|photoreceptor inner segment|photoreceptor outer segment	microtubule binding	g.chr8:55538745C>G	AF146592	CCDS6160.1	8q12.1	2013-01-08				ENSG00000104237			10263	protein-coding gene	gene with protein product		603937				1783394	Standard	NM_006269		Approved	DCDC4A	uc003xsd.1	P56715		ENST00000220676.1:c.2303C>G	8.37:g.55538745C>G	ENSP00000220676:p.Ser768Cys					RP1_uc011ldy.1_Intron	p.S768C	NM_006269	NP_006260	P56715	RP1_HUMAN	OV - Ovarian serous cystadenocarcinoma(7;4.4e-07)|Epithelial(17;3.37e-05)|all cancers(17;0.000285)		4	2451	+		all_lung(136;0.0831)|Lung NSC(129;0.109)|all_epithelial(80;0.123)	768						Missense_Mutation	SNP	ENST00000220676.1	37	c.2303C>G	CCDS6160.1	.	.	.	.	.	.	.	.	.	.	C	9.644	1.139668	0.21205	.	.	ENSG00000104237	ENST00000220676	T	0.21734	1.99	5.93	0.401	0.16338	.	0.948204	0.08785	N	0.894158	T	0.10723	0.0262	N	0.08118	0	0.09310	N	1	P	0.48640	0.913	B	0.43103	0.408	T	0.16748	-1.0392	10	0.66056	D	0.02	.	3.9468	0.09352	0.4049:0.2787:0.0:0.3165	.	768	P56715	RP1_HUMAN	C	768	ENSP00000220676:S768C	ENSP00000220676:S768C	S	+	2	0	RP1	55701298	0.000000	0.05858	0.002000	0.10522	0.500000	0.33767	-0.212000	0.09319	0.392000	0.25172	0.591000	0.81541	TCC		PASS	0.289	RP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378532.2	NM_006269		7	87	7	87	---	---	---	---
RDH10	157506	broad.mit.edu	37	8	74209560	74209560	+	Missense_Mutation	SNP	G	G	A			TCGA-34-2608-01A-02D-1522-08	TCGA-34-2608-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3c90209b-b6f6-40b2-a374-6cd37d6d3895	ca1f5f6f-bef8-49af-8bd0-c8beb0c4c53b	g.chr8:74209560G>A	ENST00000240285.5	+	2	1099	c.421G>A	c.(421-423)Gtc>Atc	p.V141I	RPL7_ENST00000396466.1_5'Flank|RPL7_ENST00000396465.1_5'Flank|RDH10_ENST00000519380.1_5'UTR|RP11-434I12.2_ENST00000520894.1_RNA	NM_172037.4	NP_742034.1	Q8IZV5	RDH10_HUMAN	retinol dehydrogenase 10 (all-trans)	141					bud elongation involved in lung branching (GO:0060449)|ear development (GO:0043583)|embryonic camera-type eye development (GO:0031076)|embryonic forelimb morphogenesis (GO:0035115)|embryonic viscerocranium morphogenesis (GO:0048703)|gonad development (GO:0008406)|in utero embryonic development (GO:0001701)|metanephros development (GO:0001656)|neural crest cell development (GO:0014032)|nose development (GO:0043584)|phototransduction, visible light (GO:0007603)|primary lung bud formation (GO:0060431)|retinal metabolic process (GO:0042574)|retinoic acid biosynthetic process (GO:0002138)|retinoid metabolic process (GO:0001523)|retinol metabolic process (GO:0042572)|visual perception (GO:0007601)	cell body (GO:0044297)|cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	NADP-retinol dehydrogenase activity (GO:0052650)|retinol dehydrogenase activity (GO:0004745)	p.V141I(1)		breast(1)|endometrium(1)|large_intestine(3)|lung(5)|skin(1)	11	Breast(64;0.0954)		Epithelial(68;0.0105)|all cancers(69;0.0465)|BRCA - Breast invasive adenocarcinoma(89;0.0608)			CGAAGTCTCAGTCCTGGTCAA	0.507																																						uc003xzi.2																			1	Substitution - Missense(1)		lung(1)		0						c.(421-423)GTC>ATC		retinol dehydrogenase 10							241.0	193.0	209.0					8																	74209560		2203	4300	6503	SO:0001583	missense	157506				retinal metabolic process|retinol metabolic process|visual perception	endoplasmic reticulum membrane|integral to membrane|microsome	binding|NADP-retinol dehydrogenase activity|retinol dehydrogenase activity	g.chr8:74209560G>A	AF456765	CCDS6213.1	8q21.11	2011-09-20			ENSG00000121039	ENSG00000121039	1.1.1.-	"""Short chain dehydrogenase/reductase superfamily / Classical SDR fold cluster 3"""	19975	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 16C, member 4"""	607599				12407145, 19027726	Standard	NM_172037		Approved	SDR16C4	uc003xzi.3	Q8IZV5	OTTHUMG00000164492	ENST00000240285.5:c.421G>A	8.37:g.74209560G>A	ENSP00000240285:p.Val141Ile					RDH10_uc003xzj.2_5'UTR	p.V141I	NM_172037	NP_742034	Q8IZV5	RDH10_HUMAN	Epithelial(68;0.0105)|all cancers(69;0.0465)|BRCA - Breast invasive adenocarcinoma(89;0.0608)		2	681	+	Breast(64;0.0954)		141						Missense_Mutation	SNP	ENST00000240285.5	37	c.421G>A	CCDS6213.1	.	.	.	.	.	.	.	.	.	.	G	2.655	-0.280984	0.05642	.	.	ENSG00000121039	ENST00000240285	D	0.87809	-2.3	4.84	4.84	0.62591	NAD(P)-binding domain (1);	0.239024	0.39909	N	0.001230	T	0.64638	0.2616	N	0.01228	-0.945	0.80722	D	1	B	0.02656	0.0	B	0.04013	0.001	T	0.65656	-0.6115	10	0.02654	T	1	.	14.1511	0.65384	0.0:0.1499:0.8501:0.0	.	141	Q8IZV5	RDH10_HUMAN	I	141	ENSP00000240285:V141I	ENSP00000240285:V141I	V	+	1	0	RDH10	74372114	1.000000	0.71417	0.966000	0.40874	0.912000	0.54170	3.311000	0.51919	2.670000	0.90874	0.655000	0.94253	GTC		PASS	0.507	RDH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378982.1			9	211	9	211	---	---	---	---
CSMD3	114788	broad.mit.edu	37	8	113651048	113651048	+	Missense_Mutation	SNP	G	G	T	rs369628503		TCGA-34-2608-01A-02D-1522-08	TCGA-34-2608-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3c90209b-b6f6-40b2-a374-6cd37d6d3895	ca1f5f6f-bef8-49af-8bd0-c8beb0c4c53b	g.chr8:113651048G>T	ENST00000297405.5	-	21	3647	c.3403C>A	c.(3403-3405)Cgc>Agc	p.R1135S	CSMD3_ENST00000352409.3_Missense_Mutation_p.R1135S|CSMD3_ENST00000343508.3_Missense_Mutation_p.R1095S|CSMD3_ENST00000455883.2_Missense_Mutation_p.R1031S	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	1135	CUB 6. {ECO:0000255|PROSITE- ProRule:PRU00059}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)		p.R1095S(1)|p.R1135S(1)		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						CCAGTCAGGCGTGCCAGTGGT	0.408										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																												uc003ynu.2																			2	Substitution - Missense(2)		lung(2)	ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63						c.(3403-3405)CGC>AGC		CUB and Sushi multiple domains 3 isoform 1							118.0	113.0	115.0					8																	113651048		2203	4300	6503	SO:0001583	missense	114788					integral to membrane|plasma membrane		g.chr8:113651048G>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.3403C>A	8.37:g.113651048G>T	ENSP00000297405:p.Arg1135Ser	HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_uc003yns.2_Missense_Mutation_p.R407S|CSMD3_uc003ynt.2_Missense_Mutation_p.R1095S|CSMD3_uc011lhx.1_Missense_Mutation_p.R1031S	p.R1135S	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN			21	3562	-			1135			Extracellular (Potential).|CUB 6.		Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	37	c.3403C>A	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	G	13.95	2.389839	0.42410	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.18657	2.2;2.2;2.2;2.2;2.2	5.36	4.43	0.53597	CUB (5);	0.000000	0.64402	D	0.000001	T	0.40595	0.1123	M	0.63428	1.95	0.41028	D	0.985134	D;D;B	0.76494	0.999;0.999;0.351	D;D;P	0.91635	0.998;0.999;0.7	T	0.09292	-1.0681	10	0.17832	T	0.49	.	14.8112	0.69996	0.0:0.0:0.8552:0.1448	.	1031;1135;1095	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	S	1095;1135;475;1031;1135	ENSP00000345799:R1095S;ENSP00000297405:R1135S;ENSP00000341558:R475S;ENSP00000412263:R1031S;ENSP00000343124:R1135S	ENSP00000297405:R1135S	R	-	1	0	CSMD3	113720224	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	4.665000	0.61547	2.529000	0.85273	0.491000	0.48974	CGC		PASS	0.408	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		25	118	25	118	---	---	---	---
TAF1L	138474	broad.mit.edu	37	9	32635064	32635064	+	Missense_Mutation	SNP	C	C	T			TCGA-34-2608-01A-02D-1522-08	TCGA-34-2608-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3c90209b-b6f6-40b2-a374-6cd37d6d3895	ca1f5f6f-bef8-49af-8bd0-c8beb0c4c53b	g.chr9:32635064C>T	ENST00000242310.4	-	1	603	c.514G>A	c.(514-516)Gat>Aat	p.D172N	RP11-555J4.4_ENST00000430787.1_RNA	NM_153809.2	NP_722516.1	Q8IZX4	TAF1L_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa-like	172					DNA-templated transcription, initiation (GO:0006352)|histone acetylation (GO:0016573)|male meiosis (GO:0007140)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	transcription factor TFIID complex (GO:0005669)	DNA binding (GO:0003677)|histone acetyltransferase activity (GO:0004402)|lysine-acetylated histone binding (GO:0070577)|protein serine/threonine kinase activity (GO:0004674)|TBP-class protein binding (GO:0017025)	p.D172N(1)		breast(6)|central_nervous_system(4)|endometrium(14)|kidney(11)|large_intestine(32)|liver(2)|lung(68)|ovary(2)|pancreas(2)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(1)	159			LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)		GTAATAGCATCTTGGTCCTTA	0.458																																						uc003zrg.1																			1	Substitution - Missense(1)		lung(1)	lung(8)|skin(6)|central_nervous_system(4)|large_intestine(3)|ovary(2)|stomach(1)|breast(1)|pancreas(1)	26						c.(514-516)GAT>AAT		TBP-associated factor RNA polymerase 1-like							197.0	156.0	170.0					9																	32635064		2203	4300	6503	SO:0001583	missense	138474				male meiosis|positive regulation of transcription, DNA-dependent|regulation of transcription from RNA polymerase II promoter|transcription initiation, DNA-dependent	transcription factor TFIID complex	DNA binding|histone acetyltransferase activity|protein serine/threonine kinase activity|TBP-class protein binding	g.chr9:32635064C>T	AF390562	CCDS35003.1	9p12	2007-07-27	2007-07-27		ENSG00000122728	ENSG00000122728			18056	protein-coding gene	gene with protein product		607798	"""TAF1-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 210kDa"""			12217962	Standard	NM_153809		Approved		uc003zrg.1	Q8IZX4	OTTHUMG00000019747	ENST00000242310.4:c.514G>A	9.37:g.32635064C>T	ENSP00000418379:p.Asp172Asn					uc003zrh.1_Intron	p.D172N	NM_153809	NP_722516	Q8IZX4	TAF1L_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.0181)	GBM - Glioblastoma multiforme(74;0.00301)	1	604	-			172					Q0VG57	Missense_Mutation	SNP	ENST00000242310.4	37	c.514G>A	CCDS35003.1	.	.	.	.	.	.	.	.	.	.	C	13.73	2.323826	0.41096	.	.	ENSG00000122728	ENST00000242310	T	0.08984	3.03	1.04	1.04	0.20106	.	0.338842	0.31323	N	0.007860	T	0.05364	0.0142	L	0.40543	1.245	0.25045	N	0.991172	B	0.30326	0.276	B	0.26614	0.071	T	0.38112	-0.9676	10	0.18276	T	0.48	.	5.3134	0.15843	0.0:1.0:0.0:0.0	.	172	Q8IZX4	TAF1L_HUMAN	N	172	ENSP00000418379:D172N	ENSP00000418379:D172N	D	-	1	0	TAF1L	32625064	0.727000	0.28069	0.951000	0.38953	0.231000	0.25187	0.496000	0.22499	0.514000	0.28300	0.205000	0.17691	GAT		PASS	0.458	TAF1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052012.2			5	126	5	126	---	---	---	---
RPP25L	138716	broad.mit.edu	37	9	34610935	34610935	+	Missense_Mutation	SNP	A	A	T			TCGA-34-2608-01A-02D-1522-08	TCGA-34-2608-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3c90209b-b6f6-40b2-a374-6cd37d6d3895	ca1f5f6f-bef8-49af-8bd0-c8beb0c4c53b	g.chr9:34610935A>T	ENST00000297613.4	-	2	639	c.359T>A	c.(358-360)cTg>cAg	p.L120Q	DCTN3_ENST00000479399.1_5'Flank|RPP25L_ENST00000378959.4_Missense_Mutation_p.L120Q	NM_148179.2	NP_680545.1	Q8N5L8	RP25L_HUMAN	ribonuclease P/MRP 25kDa subunit-like	120						nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.L120Q(1)									CCGGCTGAGCAGCACCCACAC	0.652																																						uc003zuu.2																			1	Substitution - Missense(1)		lung(1)		0						c.(358-360)CTG>CAG		hypothetical protein LOC138716							47.0	46.0	46.0					9																	34610935		2203	4300	6503	SO:0001583	missense	138716						nucleic acid binding	g.chr9:34610935A>T	BC032136	CCDS6559.1	9p11.2	2012-03-06	2012-03-06	2012-03-06	ENSG00000164967	ENSG00000164967			19909	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 23"""	C9orf23		16998185	Standard	NM_148178		Approved	bA296L22.5, MGC29635	uc003zuv.3	Q8N5L8	OTTHUMG00000000443	ENST00000297613.4:c.359T>A	9.37:g.34610935A>T	ENSP00000297613:p.Leu120Gln					C9orf23_uc003zuv.2_Missense_Mutation_p.L120Q	p.L120Q	NM_148179	NP_680545	Q8N5L8	CI023_HUMAN	STAD - Stomach adenocarcinoma(86;0.178)	GBM - Glioblastoma multiforme(74;0.0385)	2	640	-	all_epithelial(49;0.0863)		120					D3DRM5	Missense_Mutation	SNP	ENST00000297613.4	37	c.359T>A	CCDS6559.1	.	.	.	.	.	.	.	.	.	.	A	22.7	4.321709	0.81580	.	.	ENSG00000164967	ENST00000378959;ENST00000297613	.	.	.	4.72	4.72	0.59763	.	0.000000	0.85682	D	0.000000	T	0.76271	0.3964	M	0.72894	2.215	0.53005	D	0.999965	D	0.89917	1.0	D	0.91635	0.999	T	0.75752	-0.3207	9	0.35671	T	0.21	-34.9426	13.5613	0.61790	1.0:0.0:0.0:0.0	.	120	Q8N5L8	CI023_HUMAN	Q	120	.	ENSP00000297613:L120Q	L	-	2	0	C9orf23	34600935	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	8.399000	0.90197	1.982000	0.57802	0.523000	0.50628	CTG		PASS	0.652	RPP25L-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000001130.1	NM_148179		13	67	13	67	---	---	---	---
OR1L4	254973	broad.mit.edu	37	9	125486388	125486388	+	Silent	SNP	G	G	A			TCGA-34-2608-01A-02D-1522-08	TCGA-34-2608-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3c90209b-b6f6-40b2-a374-6cd37d6d3895	ca1f5f6f-bef8-49af-8bd0-c8beb0c4c53b	g.chr9:125486388G>A	ENST00000259466.1	+	1	120	c.120G>A	c.(118-120)gcG>gcA	p.A40A		NM_001005235.1	NP_001005235.1	Q8NGR5	OR1L4_HUMAN	olfactory receptor, family 1, subfamily L, member 4	40						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.A40A(1)		breast(2)|large_intestine(3)|lung(13)|prostate(1)|skin(1)	20						TACTCACTGCGGTGGGGAATG	0.517																																						uc004bmu.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(118-120)GCG>GCA		olfactory receptor, family 1, subfamily L,							200.0	182.0	188.0					9																	125486388		2203	4300	6503	SO:0001819	synonymous_variant	254973				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:125486388G>A		CCDS35129.1	9q33.2	2013-09-20			ENSG00000136939	ENSG00000136939		"""GPCR / Class A : Olfactory receptors"""	8216	protein-coding gene	gene with protein product				OR1L5			Standard	NM_001005235		Approved	OR9-E	uc004bmu.1	Q8NGR5	OTTHUMG00000020620	ENST00000259466.1:c.120G>A	9.37:g.125486388G>A							p.A40A	NM_001005235	NP_001005235	Q8NGR5	OR1L4_HUMAN			1	120	+			40			Helical; Name=1; (Potential).		Q6IFN0|Q96R81	Silent	SNP	ENST00000259466.1	37	c.120G>A	CCDS35129.1																																																																																				PASS	0.517	OR1L4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053951.1			13	225	13	225	---	---	---	---
ZBTB43	23099	broad.mit.edu	37	9	129595397	129595397	+	Missense_Mutation	SNP	T	T	G			TCGA-34-2608-01A-02D-1522-08	TCGA-34-2608-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3c90209b-b6f6-40b2-a374-6cd37d6d3895	ca1f5f6f-bef8-49af-8bd0-c8beb0c4c53b	g.chr9:129595397T>G	ENST00000373464.4	+	3	873	c.609T>G	c.(607-609)caT>caG	p.H203Q	ZBTB43_ENST00000449886.1_Missense_Mutation_p.H203Q|ZBTB43_ENST00000373457.1_Missense_Mutation_p.H203Q	NM_014007.3	NP_054726.1	O43298	ZBT43_HUMAN	zinc finger and BTB domain containing 43	203					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.H203Q(1)		NS(3)|breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14						CCACAGAGCATGACCGCCTGA	0.592																																						uc004bql.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(607-609)CAT>CAG		zinc finger and BTB domain containing 43							40.0	41.0	41.0					9																	129595397		2203	4300	6503	SO:0001583	missense	23099				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr9:129595397T>G	AF049907	CCDS6867.1	9q33.3	2013-01-09	2006-04-12	2006-04-12	ENSG00000169155	ENSG00000169155		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	17908	protein-coding gene	gene with protein product			"""zinc finger protein 297B"""	ZNF297B			Standard	NM_014007		Approved	KIAA0414, ZNF-X, FLJ22470, ZBTB22B	uc010mxf.3	O43298	OTTHUMG00000020693	ENST00000373464.4:c.609T>G	9.37:g.129595397T>G	ENSP00000362563:p.His203Gln					ZBTB43_uc010mxf.2_Missense_Mutation_p.H203Q	p.H203Q	NM_014007	NP_054726	O43298	ZBT43_HUMAN			3	882	+			203					Q5JU96	Missense_Mutation	SNP	ENST00000373464.4	37	c.609T>G	CCDS6867.1	.	.	.	.	.	.	.	.	.	.	T	8.566	0.878816	0.17395	.	.	ENSG00000169155	ENST00000449886;ENST00000373464;ENST00000373457	T;T;T	0.09163	3.01;3.01;3.01	5.62	-1.2	0.09554	.	0.059410	0.64402	D	0.000003	T	0.06234	0.0161	L	0.27053	0.805	0.37038	D	0.897002	B	0.22080	0.064	B	0.17722	0.019	T	0.40869	-0.9540	10	0.13470	T	0.59	.	11.0744	0.48023	0.0:0.4839:0.0:0.5161	.	203	O43298	ZBT43_HUMAN	Q	203	ENSP00000390344:H203Q;ENSP00000362563:H203Q;ENSP00000362556:H203Q	ENSP00000362556:H203Q	H	+	3	2	ZBTB43	128635218	0.969000	0.33509	0.997000	0.53966	0.981000	0.71138	0.028000	0.13644	-0.122000	0.11766	0.459000	0.35465	CAT		PASS	0.592	ZBTB43-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054124.1	NM_001135776		9	43	9	43	---	---	---	---
EXD3	54932	broad.mit.edu	37	9	140243631	140243631	+	Silent	SNP	G	G	A			TCGA-34-2608-01A-02D-1522-08	TCGA-34-2608-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3c90209b-b6f6-40b2-a374-6cd37d6d3895	ca1f5f6f-bef8-49af-8bd0-c8beb0c4c53b	g.chr9:140243631G>A	ENST00000340951.4	-	16	1956	c.1761C>T	c.(1759-1761)caC>caT	p.H587H	EXD3_ENST00000342129.4_Silent_p.H267H	NM_017820.3	NP_060290.3	Q9NX53	MUT7B_HUMAN	exonuclease 3'-5' domain containing 3	0								p.H587H(2)		NS(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(5)|prostate(2)	12						GTCTCTCTCTGTGCCTGGGCC	0.697																																						uc004cmp.2																			2	Substitution - coding silent(2)		lung(2)		0						c.(1759-1761)CAC>CAT		exonuclease 3'-5' domain containing 3							14.0	20.0	18.0					9																	140243631		1983	4151	6134	SO:0001819	synonymous_variant	54932				nucleobase, nucleoside, nucleotide and nucleic acid metabolic process	intracellular	3'-5' exonuclease activity|nucleic acid binding	g.chr9:140243631G>A		CCDS48066.1, CCDS75942.1	9q34.3	2009-03-04			ENSG00000187609	ENSG00000187609			26023	protein-coding gene	gene with protein product							Standard	XM_005266093		Approved	LOC54932, FLJ20433, mut-7	uc004cmp.2	Q8N9H8	OTTHUMG00000156149	ENST00000340951.4:c.1761C>T	9.37:g.140243631G>A						C9orf167_uc011mew.1_Intron|EXD3_uc010ncf.1_Silent_p.H267H|EXD3_uc004cmq.1_RNA	p.H587H	NM_017820	NP_060290	Q8N9H8	MUT7_HUMAN			16	1957	-			587					Q6P1M1|Q8IXT8	Silent	SNP	ENST00000340951.4	37	c.1761C>T	CCDS48066.1																																																																																				PASS	0.697	EXD3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000343182.1	NM_017820		3	14	3	14	---	---	---	---
CUBN	8029	broad.mit.edu	37	10	17032472	17032472	+	Missense_Mutation	SNP	C	C	A			TCGA-34-2608-01A-02D-1522-08	TCGA-34-2608-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3c90209b-b6f6-40b2-a374-6cd37d6d3895	ca1f5f6f-bef8-49af-8bd0-c8beb0c4c53b	g.chr10:17032472C>A	ENST00000377833.4	-	29	4276	c.4211G>T	c.(4210-4212)aGc>aTc	p.S1404I		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	1404	CUB 9. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cholesterol metabolic process (GO:0008203)|cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|tissue homeostasis (GO:0001894)|vitamin D metabolic process (GO:0042359)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|cobalamin binding (GO:0031419)|protein homodimerization activity (GO:0042803)|receptor activity (GO:0004872)|transporter activity (GO:0005215)	p.S1404I(1)		breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	GAACCCGGGGCTGCTGAAGGA	0.512																																						uc001ioo.2																			1	Substitution - Missense(1)		lung(1)	ovary(9)|breast(4)|pancreas(2)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)|kidney(1)	19						c.(4210-4212)AGC>ATC		cubilin precursor	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)						77.0	79.0	78.0					10																	17032472		2203	4300	6503	SO:0001583	missense	8029				cholesterol metabolic process|cobalamin transport|hormone biosynthetic process|lipoprotein metabolic process|receptor-mediated endocytosis|tissue homeostasis|vitamin D metabolic process	brush border membrane|cytosol|endosome membrane|extrinsic to external side of plasma membrane|lysosomal lumen|lysosomal membrane	calcium ion binding|cobalamin binding|protein homodimerization activity|receptor activity|transporter activity	g.chr10:17032472C>A	AF034611	CCDS7113.1	10p12	2014-09-17			ENSG00000107611	ENSG00000107611			2548	protein-coding gene	gene with protein product		602997		MGA1		9572993, 9478979	Standard	NM_001081		Approved	IFCR, gp280	uc001ioo.3	O60494	OTTHUMG00000017741	ENST00000377833.4:c.4211G>T	10.37:g.17032472C>A	ENSP00000367064:p.Ser1404Ile						p.S1404I	NM_001081	NP_001072	O60494	CUBN_HUMAN			29	4263	-			1404			CUB 9.		B0YIZ4|Q5VTA6|Q96RU9	Missense_Mutation	SNP	ENST00000377833.4	37	c.4211G>T	CCDS7113.1	.	.	.	.	.	.	.	.	.	.	C	19.14	3.769491	0.69992	.	.	ENSG00000107611	ENST00000377833	T	0.32023	1.47	5.77	5.77	0.91146	CUB (5);	0.000000	0.52532	D	0.000074	T	0.75554	0.3865	H	0.99169	4.455	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.86106	0.1559	10	0.87932	D	0	.	19.9855	0.97347	0.0:1.0:0.0:0.0	.	1404	O60494	CUBN_HUMAN	I	1404	ENSP00000367064:S1404I	ENSP00000367064:S1404I	S	-	2	0	CUBN	17072478	1.000000	0.71417	1.000000	0.80357	0.191000	0.23601	5.692000	0.68256	2.715000	0.92844	0.655000	0.94253	AGC		PASS	0.512	CUBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047009.1	NM_001081		13	116	13	116	---	---	---	---
GPR158	57512	broad.mit.edu	37	10	25887797	25887797	+	Missense_Mutation	SNP	T	T	C			TCGA-34-2608-01A-02D-1522-08	TCGA-34-2608-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3c90209b-b6f6-40b2-a374-6cd37d6d3895	ca1f5f6f-bef8-49af-8bd0-c8beb0c4c53b	g.chr10:25887797T>C	ENST00000376351.3	+	11	3601	c.3242T>C	c.(3241-3243)aTt>aCt	p.I1081T	GPR158_ENST00000490549.1_3'UTR	NM_020752.2	NP_065803.2	Q5T848	GP158_HUMAN	G protein-coupled receptor 158	1081					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)	p.I1081T(1)		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						GGCCAGTCCATTTTGGAAGAT	0.502																																						uc001isj.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|large_intestine(2)|pancreas(1)|skin(1)	8						c.(3241-3243)ATT>ACT		G protein-coupled receptor 158 precursor							91.0	95.0	94.0					10																	25887797		2203	4300	6503	SO:0001583	missense	57512					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr10:25887797T>C	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.3242T>C	10.37:g.25887797T>C	ENSP00000365529:p.Ile1081Thr					GPR158_uc001isk.2_Missense_Mutation_p.I456T	p.I1081T	NM_020752	NP_065803	Q5T848	GP158_HUMAN			11	3302	+			1081			Cytoplasmic (Potential).		Q6QR81|Q9ULT3	Missense_Mutation	SNP	ENST00000376351.3	37	c.3242T>C	CCDS31166.1	.	.	.	.	.	.	.	.	.	.	T	0.027	-1.362955	0.01235	.	.	ENSG00000151025	ENST00000376351	T	0.29142	1.58	5.37	1.57	0.23409	.	0.956005	0.08660	N	0.912554	T	0.16685	0.0401	N	0.19112	0.55	0.09310	N	1	B	0.10296	0.003	B	0.11329	0.006	T	0.35699	-0.9778	10	0.11485	T	0.65	.	5.4082	0.16332	0.0:0.2219:0.1451:0.633	.	1081	Q5T848	GP158_HUMAN	T	1081	ENSP00000365529:I1081T	ENSP00000365529:I1081T	I	+	2	0	GPR158	25927803	0.000000	0.05858	0.000000	0.03702	0.029000	0.11900	0.675000	0.25232	0.306000	0.22856	0.533000	0.62120	ATT		PASS	0.502	GPR158-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047248.2	XM_166110		40	247	40	247	---	---	---	---
MYO3A	53904	broad.mit.edu	37	10	26310458	26310458	+	Missense_Mutation	SNP	T	T	A			TCGA-34-2608-01A-02D-1522-08	TCGA-34-2608-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3c90209b-b6f6-40b2-a374-6cd37d6d3895	ca1f5f6f-bef8-49af-8bd0-c8beb0c4c53b	g.chr10:26310458T>A	ENST00000265944.5	+	8	778	c.612T>A	c.(610-612)gaT>gaA	p.D204E	MYO3A_ENST00000376302.1_Missense_Mutation_p.D204E|MYO3A_ENST00000543632.1_Missense_Mutation_p.D204E	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN	myosin IIIA	204	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		D -> N (in dbSNP:rs3737274).		ATP catabolic process (GO:0006200)|inner ear development (GO:0048839)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of filopodium assembly (GO:0051491)|protein autophosphorylation (GO:0046777)|response to stimulus (GO:0050896)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|filamentous actin (GO:0031941)|filopodium (GO:0030175)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|photoreceptor inner segment (GO:0001917)|stereocilium bundle tip (GO:0032426)	actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|plus-end directed microfilament motor activity (GO:0060002)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.D204E(1)		NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						AGCAATTGGATACCACTTATG	0.433																																						uc001isn.2																			1	Substitution - Missense(1)		lung(1)	ovary(6)|stomach(3)|lung(3)|central_nervous_system(2)|breast(1)|skin(1)|kidney(1)|pancreas(1)	18						c.(610-612)GAT>GAA		myosin IIIA							197.0	167.0	177.0					10																	26310458		2203	4300	6503	SO:0001583	missense	53904				protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity	g.chr10:26310458T>A	AF229172	CCDS7148.1	10p11.1	2011-09-27	2004-05-19		ENSG00000095777	ENSG00000095777		"""Myosins / Myosin superfamily : Class III"""	7601	protein-coding gene	gene with protein product		606808	"""deafness, autosomal recessive 30"""	DFNB30		10936054	Standard	NM_017433		Approved		uc001isn.2	Q8NEV4	OTTHUMG00000017837	ENST00000265944.5:c.612T>A	10.37:g.26310458T>A	ENSP00000265944:p.Asp204Glu					MYO3A_uc009xko.1_Missense_Mutation_p.D204E|MYO3A_uc009xkp.1_RNA|MYO3A_uc009xkq.1_Missense_Mutation_p.D204E|MYO3A_uc001ism.2_Missense_Mutation_p.D204E	p.D204E	NM_017433	NP_059129	Q8NEV4	MYO3A_HUMAN			8	972	+			204			Protein kinase.		Q4G0X2|Q5VZ28|Q8WX17|Q9NYS8	Missense_Mutation	SNP	ENST00000265944.5	37	c.612T>A	CCDS7148.1	.	.	.	.	.	.	.	.	.	.	T	22.3	4.273976	0.80580	.	.	ENSG00000095777	ENST00000265944;ENST00000376302;ENST00000543632	T;T;T	0.13657	2.57;2.57;2.57	6.03	1.14	0.20703	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.043207	0.85682	D	0.000000	T	0.11239	0.0274	N	0.02697	-0.525	0.58432	D	0.999991	B;P;D;P	0.64830	0.428;0.484;0.994;0.636	B;B;D;B	0.64237	0.097;0.145;0.923;0.366	T	0.22312	-1.0220	10	0.36615	T	0.2	.	9.1091	0.36716	0.0:0.2903:0.0:0.7097	.	204;204;204;204	F5H0U9;Q0VD65;Q8NEV4;Q4G0X2	.;.;MYO3A_HUMAN;.	E	204	ENSP00000265944:D204E;ENSP00000365479:D204E;ENSP00000445909:D204E	ENSP00000265944:D204E	D	+	3	2	MYO3A	26350464	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.192000	0.32150	0.164000	0.19529	0.533000	0.62120	GAT		PASS	0.433	MYO3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047259.1	NM_017433		6	241	6	241	---	---	---	---
ZNF438	220929	broad.mit.edu	37	10	31138498	31138498	+	Missense_Mutation	SNP	T	T	C			TCGA-34-2608-01A-02D-1522-08	TCGA-34-2608-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3c90209b-b6f6-40b2-a374-6cd37d6d3895	ca1f5f6f-bef8-49af-8bd0-c8beb0c4c53b	g.chr10:31138498T>C	ENST00000361310.3	-	6	1165	c.836A>G	c.(835-837)aAt>aGt	p.N279S	ZNF438_ENST00000442986.1_Missense_Mutation_p.N279S|ZNF438_ENST00000444692.2_Missense_Mutation_p.N269S|ZNF438_ENST00000538351.2_Missense_Mutation_p.N230S|ZNF438_ENST00000413025.1_Missense_Mutation_p.N279S|ZNF438_ENST00000375311.1_Intron|ZNF438_ENST00000436087.2_Missense_Mutation_p.N279S|ZNF438_ENST00000452305.1_Missense_Mutation_p.N269S|ZNF438_ENST00000331737.6_Missense_Mutation_p.N269S			Q7Z4V0	ZN438_HUMAN	zinc finger protein 438	279					negative regulation of transcription, DNA-templated (GO:0045892)|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)	p.N279S(1)		breast(3)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(3)|lung(15)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	35		Prostate(175;0.0587)				CTGAACTGCATTGCCAAGAAT	0.388																																						uc010qdz.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|breast(1)	2						c.(835-837)AAT>AGT		zinc finger protein 438 isoform a							195.0	181.0	186.0					10																	31138498		2203	4300	6503	SO:0001583	missense	220929				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr10:31138498T>C	AK057323	CCDS7168.1, CCDS44369.1, CCDS53504.1	10p11.23	2006-02-15			ENSG00000183621	ENSG00000183621		"""Zinc fingers, C2H2-type"""	21029	protein-coding gene	gene with protein product							Standard	NM_182755		Approved	bA330O11.1	uc010qeb.2	Q7Z4V0	OTTHUMG00000017904	ENST00000361310.3:c.836A>G	10.37:g.31138498T>C	ENSP00000354663:p.Asn279Ser					ZNF438_uc001ivn.2_Missense_Mutation_p.N230S|ZNF438_uc010qdy.1_Missense_Mutation_p.N269S|ZNF438_uc001ivo.3_Intron|ZNF438_uc009xlg.2_Missense_Mutation_p.N279S|ZNF438_uc001ivp.3_Missense_Mutation_p.N269S|ZNF438_uc010qea.1_Missense_Mutation_p.N279S|ZNF438_uc010qeb.1_Missense_Mutation_p.N279S|ZNF438_uc010qec.1_Intron	p.N279S	NM_182755	NP_877432	Q7Z4V0	ZN438_HUMAN			7	1271	-		Prostate(175;0.0587)	279					A2A3J4|A8K9L5|Q5T426|Q658Q4|Q6ZN65	Missense_Mutation	SNP	ENST00000361310.3	37	c.836A>G	CCDS7168.1	.	.	.	.	.	.	.	.	.	.	T	6.543	0.468411	0.12461	.	.	ENSG00000183621	ENST00000331737;ENST00000361310;ENST00000436087;ENST00000442986;ENST00000413025;ENST00000452305;ENST00000444692;ENST00000538351	T;T;T;T;T;T;T;T	0.09163	3.01;3.01;3.01;3.01;3.01;3.01;3.01;3.01	5.74	-4.91	0.03085	.	0.474709	0.29362	N	0.012363	T	0.05135	0.0137	N	0.16656	0.425	0.09310	N	1	B;B	0.12630	0.003;0.006	B;B	0.10450	0.002;0.005	T	0.39482	-0.9612	10	0.10377	T	0.69	-0.8902	14.5068	0.67758	0.0:0.5747:0.0:0.4253	.	279;269	Q7Z4V0;Q7Z4V0-2	ZN438_HUMAN;.	S	269;279;279;279;279;269;269;230	ENSP00000333571:N269S;ENSP00000354663:N279S;ENSP00000406934:N279S;ENSP00000412363:N279S;ENSP00000387546:N279S;ENSP00000413060:N269S;ENSP00000410898:N269S;ENSP00000445461:N230S	ENSP00000333571:N269S	N	-	2	0	ZNF438	31178504	0.064000	0.20934	0.000000	0.03702	0.080000	0.17528	0.329000	0.19698	-0.830000	0.04262	-0.242000	0.12053	AAT		PASS	0.388	ZNF438-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000277006.1	NM_182755		17	477	17	477	---	---	---	---
NRP1	8829	broad.mit.edu	37	10	33502318	33502318	+	Missense_Mutation	SNP	G	G	A			TCGA-34-2608-01A-02D-1522-08	TCGA-34-2608-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3c90209b-b6f6-40b2-a374-6cd37d6d3895	ca1f5f6f-bef8-49af-8bd0-c8beb0c4c53b	g.chr10:33502318G>A	ENST00000265371.4	-	10	2135	c.1610C>T	c.(1609-1611)gCg>gTg	p.A537V	NRP1_ENST00000395995.1_Missense_Mutation_p.A537V|NRP1_ENST00000374823.5_Missense_Mutation_p.A537V|RP11-342D11.2_ENST00000451530.1_RNA|NRP1_ENST00000374822.4_Missense_Mutation_p.A537V|NRP1_ENST00000374867.2_Missense_Mutation_p.A537V|NRP1_ENST00000374816.3_Missense_Mutation_p.A537V|NRP1_ENST00000374821.5_Missense_Mutation_p.A537V|NRP1_ENST00000374875.1_Missense_Mutation_p.A356V|NRP1_ENST00000432372.2_Missense_Mutation_p.A537V			O14786	NRP1_HUMAN	neuropilin 1	537	F5/8 type C 2. {ECO:0000255|PROSITE- ProRule:PRU00081}.				angiogenesis (GO:0001525)|angiogenesis involved in coronary vascular morphogenesis (GO:0060978)|artery morphogenesis (GO:0048844)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|axonogenesis involved in innervation (GO:0060385)|branchiomotor neuron axon guidance (GO:0021785)|cell adhesion (GO:0007155)|cell migration involved in sprouting angiogenesis (GO:0002042)|cell-cell signaling (GO:0007267)|cellular response to hepatocyte growth factor stimulus (GO:0035729)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|commissural neuron axon guidance (GO:0071679)|coronary artery morphogenesis (GO:0060982)|dendrite development (GO:0016358)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|endothelial cell chemotaxis (GO:0035767)|endothelial tip cell fate specification (GO:0097102)|facial nerve structural organization (GO:0021612)|gonadotrophin-releasing hormone neuronal migration to the hypothalamus (GO:0021828)|hepatocyte growth factor receptor signaling pathway (GO:0048012)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|negative regulation of neuron apoptotic process (GO:0043524)|nerve development (GO:0021675)|neural crest cell migration involved in autonomic nervous system development (GO:1901166)|neuron migration (GO:0001764)|organ morphogenesis (GO:0009887)|patterning of blood vessels (GO:0001569)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive chemotaxis (GO:0050918)|positive regulation of axon extension involved in axon guidance (GO:0048842)|positive regulation of cytokine activity (GO:0060301)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of retinal ganglion cell axon guidance (GO:1902336)|positive regulation of smooth muscle cell migration (GO:0014911)|protein localization to early endosome (GO:1902946)|regulation of retinal ganglion cell axon guidance (GO:0090259)|regulation of vesicle-mediated transport (GO:0060627)|renal artery morphogenesis (GO:0061441)|response to wounding (GO:0009611)|retina vasculature morphogenesis in camera-type eye (GO:0061299)|retinal ganglion cell axon guidance (GO:0031290)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|semaphorin-plexin signaling pathway involved in neuron projection guidance (GO:1902285)|signal transduction (GO:0007165)|sprouting angiogenesis (GO:0002040)|sympathetic ganglion development (GO:0061549)|sympathetic neuron projection extension (GO:0097490)|sympathetic neuron projection guidance (GO:0097491)|trigeminal nerve structural organization (GO:0021637)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|VEGF-activated neuropilin signaling pathway (GO:0038190)|VEGF-activated neuropilin signaling pathway involved in axon guidance (GO:1902378)	axon (GO:0030424)|cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|early endosome (GO:0005769)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|neurofilament (GO:0005883)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|semaphorin receptor complex (GO:0002116)|sorting endosome (GO:0097443)	coreceptor activity (GO:0015026)|cytokine binding (GO:0019955)|growth factor binding (GO:0019838)|heparin binding (GO:0008201)|metal ion binding (GO:0046872)|semaphorin receptor activity (GO:0017154)|vascular endothelial growth factor binding (GO:0038085)|vascular endothelial growth factor-activated receptor activity (GO:0005021)	p.A537V(1)		NS(2)|breast(6)|central_nervous_system(4)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(3)|stomach(2)	48					Palifermin(DB00039)|Pegaptanib(DB04895)	CCTCACCTTCGCCTTGCGTTT	0.522																																					Melanoma(104;886 1489 44640 45944 51153)	uc001iwx.3																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(2)|ovary(1)|skin(1)	4						c.(1609-1611)GCG>GTG		neuropilin 1 isoform a	Palifermin(DB00039)|Pegaptanib(DB04895)						177.0	154.0	162.0					10																	33502318		2203	4300	6503	SO:0001583	missense	8829				axon guidance|cell adhesion|cell-cell signaling|organ morphogenesis|positive regulation of cell proliferation	extracellular region|integral to membrane|plasma membrane	growth factor binding|heparin binding|metal ion binding|vascular endothelial growth factor receptor activity	g.chr10:33502318G>A	AF016050	CCDS7177.1, CCDS31179.1, CCDS31180.1	10p12	2006-02-23			ENSG00000099250	ENSG00000099250		"""CD molecules"""	8004	protein-coding gene	gene with protein product		602069				9529250, 9331348	Standard	NM_003873		Approved	NRP, VEGF165R, CD304	uc001iwx.4	O14786	OTTHUMG00000019343	ENST00000265371.4:c.1610C>T	10.37:g.33502318G>A	ENSP00000265371:p.Ala537Val					NRP1_uc001iwv.3_Missense_Mutation_p.A537V|NRP1_uc009xlz.2_Missense_Mutation_p.A537V|NRP1_uc001iww.3_Missense_Mutation_p.A356V|NRP1_uc001iwy.3_Missense_Mutation_p.A537V|NRP1_uc001iwz.2_Missense_Mutation_p.A537V|NRP1_uc001ixa.2_Missense_Mutation_p.A537V|NRP1_uc001ixb.1_Missense_Mutation_p.A537V|NRP1_uc001ixc.1_Missense_Mutation_p.A537V	p.A537V	NM_003873	NP_003864	O14786	NRP1_HUMAN			9	2133	-			537			Extracellular (Potential).|F5/8 type C 2.		B0LPG9|O60461|Q5T7F1|Q5T7F2|Q5T7F3|Q86T59|Q96I90|Q96IH5	Missense_Mutation	SNP	ENST00000265371.4	37	c.1610C>T	CCDS7177.1	.	.	.	.	.	.	.	.	.	.	G	14.61	2.586798	0.46110	.	.	ENSG00000099250	ENST00000265371;ENST00000374875;ENST00000374867;ENST00000395995;ENST00000374814;ENST00000374822;ENST00000374821;ENST00000374823;ENST00000374816;ENST00000432372	D;D;D;D;D;D;D;D;D	0.98849	-5.18;-5.18;-5.18;-5.18;-5.18;-5.18;-5.18;-5.18;-5.18	5.95	5.95	0.96441	Coagulation factor 5/8 C-terminal type domain (3);Galactose-binding domain-like (1);	0.300335	0.41001	N	0.000964	D	0.92886	0.7737	N	0.04090	-0.28	0.36229	D	0.852512	B;B;B;B;P;P;B;B;B	0.42757	0.101;0.406;0.406;0.101;0.749;0.789;0.171;0.042;0.087	B;B;B;B;B;B;B;B;B	0.26094	0.006;0.009;0.016;0.006;0.039;0.066;0.006;0.004;0.001	D	0.94747	0.7924	10	0.33940	T	0.23	-8.3526	14.5181	0.67833	0.0716:0.0:0.9284:0.0	.	537;537;537;537;537;537;537;356;537	A8K9V7;E7EX60;Q5T7F0;Q5T7F1;O14786-2;Q68DN3;O14786;Q5JWQ6;E9PEP6	.;.;.;.;.;.;NRP1_HUMAN;.;.	V	537;356;537;537;8;537;537;537;537;210	ENSP00000265371:A537V;ENSP00000364009:A356V;ENSP00000364001:A537V;ENSP00000379317:A537V;ENSP00000363955:A537V;ENSP00000363954:A537V;ENSP00000363956:A537V;ENSP00000363949:A537V;ENSP00000408911:A210V	ENSP00000265371:A537V	A	-	2	0	NRP1	33542324	1.000000	0.71417	0.997000	0.53966	0.543000	0.35085	4.291000	0.59025	2.811000	0.96726	0.655000	0.94253	GCG		PASS	0.522	NRP1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051203.2			8	376	8	376	---	---	---	---
CTNNA3	29119	broad.mit.edu	37	10	68280441	68280441	+	Missense_Mutation	SNP	G	G	C			TCGA-34-2608-01A-02D-1522-08	TCGA-34-2608-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3c90209b-b6f6-40b2-a374-6cd37d6d3895	ca1f5f6f-bef8-49af-8bd0-c8beb0c4c53b	g.chr10:68280441G>C	ENST00000433211.2	-	11	1639	c.1465C>G	c.(1465-1467)Cat>Gat	p.H489D	CTNNA3_ENST00000373744.4_Missense_Mutation_p.H489D	NM_013266.2	NP_037398.2			catenin (cadherin-associated protein), alpha 3									p.H489D(2)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(1)|lung(50)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	95						ACATGTATATGATTCTCCCAT	0.363																																						uc009xpn.1																			2	Substitution - Missense(2)		lung(2)	skin(3)|ovary(2)|pancreas(1)|lung(1)|central_nervous_system(1)	8						c.(1465-1467)CAT>GAT		catenin, alpha 3							189.0	163.0	172.0					10																	68280441		2203	4300	6503	SO:0001583	missense	29119				cell-cell adhesion	actin cytoskeleton|cytoplasm|fascia adherens	cadherin binding|structural molecule activity	g.chr10:68280441G>C	AF091606	CCDS7269.1	10q21	2006-11-24			ENSG00000183230	ENSG00000183230			2511	protein-coding gene	gene with protein product		607667				12596047, 11590244	Standard	XM_005269717		Approved	VR22, MGC26194	uc001jmw.2	Q9UI47	OTTHUMG00000018334	ENST00000433211.2:c.1465C>G	10.37:g.68280441G>C	ENSP00000389714:p.His489Asp					CTNNA3_uc001jmw.2_Missense_Mutation_p.H489D|CTNNA3_uc001jmx.3_Missense_Mutation_p.H489D	p.H489D	NM_001127384	NP_001120856	Q9UI47	CTNA3_HUMAN			11	1588	-			489						Missense_Mutation	SNP	ENST00000433211.2	37	c.1465C>G	CCDS7269.1	.	.	.	.	.	.	.	.	.	.	G	13.46	2.243996	0.39697	.	.	ENSG00000183230	ENST00000433211;ENST00000373744	T;T	0.35605	1.3;1.3	5.43	4.48	0.54585	.	0.106388	0.40469	N	0.001084	T	0.25975	0.0633	N	0.22421	0.69	0.80722	D	1	B;B	0.16802	0.006;0.019	B;B	0.25987	0.023;0.065	T	0.08146	-1.0736	10	0.87932	D	0	-10.1895	8.663	0.34103	0.1262:0.0:0.8738:0.0	.	489;489	Q9UI47-2;Q9UI47	.;CTNA3_HUMAN	D	489	ENSP00000389714:H489D;ENSP00000362849:H489D	ENSP00000362849:H489D	H	-	1	0	CTNNA3	67950447	1.000000	0.71417	0.995000	0.50966	0.445000	0.32107	6.579000	0.74036	1.305000	0.44909	0.650000	0.86243	CAT		PASS	0.363	CTNNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048282.2	NM_013266		38	198	38	198	---	---	---	---
PPP1R3C	5507	broad.mit.edu	37	10	93390049	93390049	+	Missense_Mutation	SNP	T	T	C			TCGA-34-2608-01A-02D-1522-08	TCGA-34-2608-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3c90209b-b6f6-40b2-a374-6cd37d6d3895	ca1f5f6f-bef8-49af-8bd0-c8beb0c4c53b	g.chr10:93390049T>C	ENST00000238994.5	-	2	673	c.589A>G	c.(589-591)Act>Gct	p.T197A		NM_005398.5	NP_005389.1			protein phosphatase 1, regulatory subunit 3C									p.T197A(1)		breast(1)|endometrium(1)|large_intestine(5)|lung(4)|upper_aerodigestive_tract(1)	12		Colorectal(252;0.235)				TCTACGTCAGTGTAGTTTTTC	0.408																																						uc001kho.2																			1	Substitution - Missense(1)		lung(1)	breast(1)	1						c.(589-591)ACT>GCT		protein phosphatase 1, regulatory (inhibitor)							95.0	88.0	91.0					10																	93390049		2203	4300	6503	SO:0001583	missense	5507						protein serine/threonine phosphatase activity	g.chr10:93390049T>C	Y18207	CCDS7416.1	10q23-q24	2012-04-17	2011-10-04	2001-08-01	ENSG00000119938	ENSG00000119938		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	9293	protein-coding gene	gene with protein product	"""Phosphatase 1, regulatory inhibitor subunit 5"", ""protein targeting to glycogen"""	602999	"""protein phosphatase 1, regulatory (inhibitor) subunit 3C"""	PPP1R5		8985175	Standard	NM_005398		Approved	PTG	uc001kho.3	Q9UQK1	OTTHUMG00000018745	ENST00000238994.5:c.589A>G	10.37:g.93390049T>C	ENSP00000238994:p.Thr197Ala						p.T197A	NM_005398	NP_005389	Q9UQK1	PPR3C_HUMAN			2	721	-		Colorectal(252;0.235)	197			Interaction with EPM2A.|CBM21.			Missense_Mutation	SNP	ENST00000238994.5	37	c.589A>G	CCDS7416.1	.	.	.	.	.	.	.	.	.	.	T	8.657	0.899724	0.17686	.	.	ENSG00000119938	ENST00000238994;ENST00000438999;ENST00000500094	T	0.62941	-0.01	5.73	5.73	0.89815	Putative phosphatase regulatory subunit (2);	0.222849	0.45361	D	0.000368	T	0.49745	0.1575	L	0.46885	1.475	0.38049	D	0.935705	B	0.09022	0.002	B	0.19391	0.025	T	0.48725	-0.9010	10	0.14656	T	0.56	-9.1444	6.3139	0.21180	0.1414:0.0732:0.0:0.7853	.	197	Q9UQK1	PPR3C_HUMAN	A	197;177;79	ENSP00000238994:T197A	ENSP00000238994:T197A	T	-	1	0	PPP1R3C	93380029	1.000000	0.71417	0.845000	0.33349	0.304000	0.27724	2.720000	0.47252	2.180000	0.69256	0.533000	0.62120	ACT		PASS	0.408	PPP1R3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049372.1	NM_005398		30	172	30	172	---	---	---	---
XPNPEP1	7511	broad.mit.edu	37	10	111667494	111667494	+	Silent	SNP	G	G	A			TCGA-34-2608-01A-02D-1522-08	TCGA-34-2608-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3c90209b-b6f6-40b2-a374-6cd37d6d3895	ca1f5f6f-bef8-49af-8bd0-c8beb0c4c53b	g.chr10:111667494G>A	ENST00000502935.1	-	3	320	c.201C>T	c.(199-201)acC>acT	p.T67T	XPNPEP1_ENST00000430337.1_5'UTR|XPNPEP1_ENST00000369680.4_Silent_p.T24T|XPNPEP1_ENST00000369683.1_5'UTR|XPNPEP1_ENST00000322238.8_Silent_p.T67T					X-prolyl aminopeptidase (aminopeptidase P) 1, soluble									p.T67T(1)|p.T24T(1)		endometrium(2)|kidney(9)|large_intestine(4)|lung(9)|ovary(3)|pancreas(2)|skin(1)|urinary_tract(1)	31		Breast(234;0.174)		Epithelial(162;1.64e-05)|all cancers(201;0.000564)|BRCA - Breast invasive adenocarcinoma(275;0.0721)		GGATCGGTTCGGTCACATACT	0.522																																						uc001kyp.1																			2	Substitution - coding silent(2)		lung(2)	ovary(3)|pancreas(1)	4						c.(70-72)ACC>ACT		X-prolyl aminopeptidase (aminopeptidase P) 1,							249.0	210.0	223.0					10																	111667494		2203	4300	6503	SO:0001819	synonymous_variant	7511				bradykinin catabolic process|proteolysis		manganese ion binding|metalloaminopeptidase activity|protein homodimerization activity	g.chr10:111667494G>A		CCDS7560.1, CCDS7560.2, CCDS53576.1	10q25.3	2006-01-16	2002-07-17		ENSG00000108039	ENSG00000108039	3.4.11.9		12822	protein-coding gene	gene with protein product		602443	"""X-prolyl aminopeptidase (aminopeptidase P)-like"""	XPNPEP, XPNPEPL1, XPNPEPL			Standard	NM_020383		Approved		uc001kyp.2	Q9NQW7	OTTHUMG00000019029	ENST00000502935.1:c.201C>T	10.37:g.111667494G>A						XPNPEP1_uc009xxt.1_Silent_p.T67T|XPNPEP1_uc001kyq.1_5'UTR|XPNPEP1_uc010qrb.1_Silent_p.T67T	p.T24T	NM_020383	NP_065116	Q9NQW7	XPP1_HUMAN		Epithelial(162;1.64e-05)|all cancers(201;0.000564)|BRCA - Breast invasive adenocarcinoma(275;0.0721)	3	212	-		Breast(234;0.174)	24						Silent	SNP	ENST00000502935.1	37	c.72C>T	CCDS7560.2																																																																																				PASS	0.522	XPNPEP1-015	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000050264.2			20	211	20	211	---	---	---	---
SMPD1	6609	broad.mit.edu	37	11	6412896	6412896	+	Missense_Mutation	SNP	A	A	G			TCGA-34-2608-01A-02D-1522-08	TCGA-34-2608-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3c90209b-b6f6-40b2-a374-6cd37d6d3895	ca1f5f6f-bef8-49af-8bd0-c8beb0c4c53b	g.chr11:6412896A>G	ENST00000342245.4	+	2	769	c.601A>G	c.(601-603)Agc>Ggc	p.S201G	SMPD1_ENST00000527275.1_Missense_Mutation_p.S200G|SMPD1_ENST00000299397.3_Missense_Mutation_p.S201G|SMPD1_ENST00000356761.2_Missense_Mutation_p.S201G|SMPD1_ENST00000533196.1_Intron	NM_000543.4|NM_001007593.2	NP_000534.3|NP_001007594.2	P17405	ASM_HUMAN	sphingomyelin phosphodiesterase 1, acid lysosomal	199					cell death (GO:0008219)|ceramide biosynthetic process (GO:0046513)|glycosphingolipid metabolic process (GO:0006687)|negative regulation of MAP kinase activity (GO:0043407)|nervous system development (GO:0007399)|positive regulation of apoptotic process (GO:0043065)|positive regulation of protein dephosphorylation (GO:0035307)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)|sphingomyelin catabolic process (GO:0006685)|sphingomyelin metabolic process (GO:0006684)|termination of signal transduction (GO:0023021)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lamellar body (GO:0042599)|lysosomal lumen (GO:0043202)	hydrolase activity, acting on glycosyl bonds (GO:0016798)|sphingomyelin phosphodiesterase activity (GO:0004767)	p.S201G(2)		breast(1)|central_nervous_system(2)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|pancreas(1)|prostate(1)|urinary_tract(3)	23		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)		Epithelial(150;4.9e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)	Amlodipine(DB00381)|Chlorpromazine(DB00477)|Desipramine(DB01151)	TGCCCCTGTCAGCCGCATCCT	0.627																																						uc001mcw.2																			2	Substitution - Missense(2)		lung(2)		0						c.(601-603)AGC>GGC		sphingomyelin phosphodiesterase 1, acid	Desipramine(DB01151)						13.0	12.0	12.0					11																	6412896		2176	4240	6416	SO:0001583	missense	6609				cell death|ceramide biosynthetic process|negative regulation of MAP kinase activity|nervous system development|positive regulation of protein dephosphorylation|signal transduction|sphingomyelin catabolic process|termination of signal transduction	lysosome	hydrolase activity, acting on glycosyl bonds|sphingomyelin phosphodiesterase activity	g.chr11:6412896A>G	AB209775	CCDS31409.1, CCDS44531.1, CCDS31409.2	11p15.4-p15.1	2010-04-28	2008-02-04		ENSG00000166311	ENSG00000166311	3.1.4.12		11120	protein-coding gene	gene with protein product	"""acid sphingomyelinase"""	607608				1711683	Standard	NM_000543		Approved	ASM	uc001mcw.3	P17405	OTTHUMG00000165453	ENST00000342245.4:c.601A>G	11.37:g.6412896A>G	ENSP00000340409:p.Ser201Gly					SMPD1_uc001mcv.1_Intron|SMPD1_uc009yex.2_RNA|SMPD1_uc001mcx.2_Missense_Mutation_p.S201G|SMPD1_uc009yew.2_Missense_Mutation_p.S200G	p.S201G	NM_000543	NP_000534	P17405	ASM_HUMAN		Epithelial(150;4.9e-08)|BRCA - Breast invasive adenocarcinoma(625;0.189)	2	775	+		Medulloblastoma(188;0.00263)|all_neural(188;0.026)|Breast(177;0.029)	199					A8K8M3|E9PKS3|P17406|Q13811|Q16837|Q16841	Missense_Mutation	SNP	ENST00000342245.4	37	c.601A>G	CCDS44531.1	.	.	.	.	.	.	.	.	.	.	A	15.60	2.881930	0.51908	.	.	ENSG00000166311	ENST00000299397;ENST00000356761;ENST00000342245;ENST00000527275	T;T;T;T	0.08546	3.08;3.09;3.11;3.12	5.26	4.15	0.48705	.	0.101710	0.64402	D	0.000004	T	0.13114	0.0318	L	0.54323	1.7	0.42046	D	0.991091	D;D;D	0.58970	0.984;0.981;0.973	P;P;P	0.55455	0.776;0.578;0.625	T	0.09400	-1.0676	10	0.26408	T	0.33	-25.3731	4.1205	0.10103	0.7251:0.0:0.0943:0.1805	.	200;201;199	E9PKS3;G3XAB5;P17405	.;.;ASM_HUMAN	G	201;201;201;200	ENSP00000299397:S201G;ENSP00000349203:S201G;ENSP00000340409:S201G;ENSP00000435350:S200G	ENSP00000299397:S201G	S	+	1	0	SMPD1	6369472	1.000000	0.71417	0.998000	0.56505	0.975000	0.68041	3.683000	0.54663	1.997000	0.58415	0.533000	0.62120	AGC		PASS	0.627	SMPD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000384205.1	NM_000543		3	21	3	21	---	---	---	---
CTC-497E21.3	0	broad.mit.edu	37	11	13032263	13032263	+	lincRNA	SNP	C	C	T			TCGA-34-2608-01A-02D-1522-08	TCGA-34-2608-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3c90209b-b6f6-40b2-a374-6cd37d6d3895	ca1f5f6f-bef8-49af-8bd0-c8beb0c4c53b	g.chr11:13032263C>T	ENST00000533002.1	-	0	0																											GTGGCCCCGACGGCGAGCTGC	0.672																																						uc001mkn.1																			0					0						c.(1462-1464)GAC>GAT		Ras association (RalGDS/AF-6) domain family							11.0	15.0	13.0					11																	13032263		1916	4102	6018			644943				signal transduction			g.chr11:13032263C>T																													11.37:g.13032263C>T							p.D488D	NM_001080521	NP_001073990	A6NK89	RASFA_HUMAN		Epithelial(150;0.00399)	2	1464	+			380						Silent	SNP	ENST00000533002.1	37	c.1464C>T																																																																																					PASS	0.672	CTC-497E21.3-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000387000.1			2	1	2	1	---	---	---	---
RCN1	5954	broad.mit.edu	37	11	32118819	32118819	+	Silent	SNP	T	T	C			TCGA-34-2608-01A-02D-1522-08	TCGA-34-2608-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3c90209b-b6f6-40b2-a374-6cd37d6d3895	ca1f5f6f-bef8-49af-8bd0-c8beb0c4c53b	g.chr11:32118819T>C	ENST00000054950.3	+	2	677	c.384T>C	c.(382-384)gaT>gaC	p.D128D	RP1-65P5.3_ENST00000533009.1_RNA|RCN1_ENST00000532942.1_Silent_p.D77D	NM_002901.2	NP_002892.1	Q15293	RCN1_HUMAN	reticulocalbin 1, EF-hand calcium binding domain	128	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.				camera-type eye development (GO:0043010)|in utero embryonic development (GO:0001701)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)	calcium ion binding (GO:0005509)	p.D128D(1)		breast(2)|endometrium(2)|kidney(2)|large_intestine(5)|lung(6)	17	Lung SC(675;0.225)					AGGATTATGATAGGGACAAGG	0.458																																						uc010reb.1																			1	Substitution - coding silent(1)		lung(1)	large_intestine(1)	1						c.(382-384)GAT>GAC		reticulocalbin 1 precursor							74.0	68.0	70.0					11																	32118819		2202	4299	6501	SO:0001819	synonymous_variant	5954					endoplasmic reticulum lumen	calcium ion binding	g.chr11:32118819T>C	D42073	CCDS7876.1	11p13	2013-01-10			ENSG00000049449	ENSG00000049449		"""EF-hand domain containing"""	9934	protein-coding gene	gene with protein product	"""proliferation-inducing gene 20"""	602735		RCN		9192846, 8586628	Standard	NM_002901		Approved	Rcal, PIG20, FLJ37041	uc010reb.2	Q15293		ENST00000054950.3:c.384T>C	11.37:g.32118819T>C						RCN1_uc010rea.1_Silent_p.D77D|RCN1_uc001mtk.2_5'UTR	p.D128D	NM_002901	NP_002892	Q15293	RCN1_HUMAN			2	650	+	Lung SC(675;0.225)		128			EF-hand 2.|2; possibly ancestral (Potential).		B7Z1M1|D3DR00	Silent	SNP	ENST00000054950.3	37	c.384T>C	CCDS7876.1																																																																																				PASS	0.458	RCN1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388510.1	NM_002901		9	46	9	46	---	---	---	---
NR1H3	10062	broad.mit.edu	37	11	47290247	47290247	+	Nonstop_Mutation	SNP	A	A	T			TCGA-34-2608-01A-02D-1522-08	TCGA-34-2608-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3c90209b-b6f6-40b2-a374-6cd37d6d3895	ca1f5f6f-bef8-49af-8bd0-c8beb0c4c53b	g.chr11:47290247A>T	ENST00000467728.1	+	9	2582	c.1344A>T	c.(1342-1344)tgA>tgT	p.*448C	RP11-17G12.3_ENST00000543925.1_RNA|MADD_ENST00000395344.3_5'Flank|NR1H3_ENST00000527949.1_Nonstop_Mutation_p.*297C|MADD_ENST00000395336.3_5'Flank|NR1H3_ENST00000405576.1_Nonstop_Mutation_p.*343C|MADD_ENST00000406482.1_5'Flank|NR1H3_ENST00000481889.2_Nonstop_Mutation_p.*467C|RP11-17G12.3_ENST00000545474.1_RNA|MADD_ENST00000402192.2_5'Flank|NR1H3_ENST00000407404.1_Nonstop_Mutation_p.*388C|MADD_ENST00000402799.1_5'Flank|NR1H3_ENST00000529540.1_3'UTR|NR1H3_ENST00000441012.2_Nonstop_Mutation_p.*448C|MADD_ENST00000311027.5_5'Flank|NR1H3_ENST00000395397.3_Nonstop_Mutation_p.*403C|NR1H3_ENST00000405853.3_Nonstop_Mutation_p.*388C|MADD_ENST00000349238.3_5'Flank|MADD_ENST00000342922.4_5'Flank|MADD_ENST00000407859.3_5'Flank			Q13133	NR1H3_HUMAN	nuclear receptor subfamily 1, group H, member 3	0					apoptotic cell clearance (GO:0043277)|cellular lipid metabolic process (GO:0044255)|cellular response to lipopolysaccharide (GO:0071222)|cholesterol homeostasis (GO:0042632)|gene expression (GO:0010467)|lipid homeostasis (GO:0055088)|negative regulation of cholesterol storage (GO:0010887)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interferon-gamma-mediated signaling pathway (GO:0060336)|negative regulation of lipid transport (GO:0032369)|negative regulation of macrophage activation (GO:0043031)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|negative regulation of pancreatic juice secretion (GO:0090188)|negative regulation of pinocytosis (GO:0048550)|negative regulation of proteolysis (GO:0045861)|negative regulation of secretion of lysosomal enzymes (GO:0090341)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of cholesterol homeostasis (GO:2000189)|positive regulation of cholesterol transport (GO:0032376)|positive regulation of fatty acid biosynthetic process (GO:0045723)|positive regulation of lipoprotein lipase activity (GO:0051006)|positive regulation of receptor biosynthetic process (GO:0010870)|positive regulation of toll-like receptor 4 signaling pathway (GO:0034145)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of triglyceride biosynthetic process (GO:0010867)|regulation of cholesterol homeostasis (GO:2000188)|regulation of circadian rhythm (GO:0042752)|response to progesterone (GO:0032570)|sterol homeostasis (GO:0055092)|transcription initiation from RNA polymerase II promoter (GO:0006367)|triglyceride homeostasis (GO:0070328)	nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	cholesterol binding (GO:0015485)|DNA binding (GO:0003677)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|steroid hormone receptor activity (GO:0003707)|sterol response element binding (GO:0032810)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.*448C(1)		endometrium(1)|kidney(2)|large_intestine(6)|lung(6)|ovary(5)	20						TGCACGAATGACTGTTCTGTC	0.547																																						uc009ylm.2																			1	Nonstop extension(1)		lung(1)	ovary(2)|lung(1)	3						c.(1342-1344)TGA>TGT		nuclear receptor subfamily 1, group H, member 3							104.0	95.0	98.0					11																	47290247		2201	4298	6499	SO:0001578	stop_lost	10062				apoptotic cell clearance|cellular response to lipopolysaccharide|cholesterol homeostasis|negative regulation of cholesterol storage|negative regulation of inflammatory response|negative regulation of interferon-gamma-mediated signaling pathway|negative regulation of lipid transport|negative regulation of macrophage activation|negative regulation of pancreatic juice secretion|negative regulation of pinocytosis|negative regulation of secretion of lysosomal enzymes|negative regulation of transcription from RNA polymerase II promoter|positive regulation of cellular protein metabolic process|positive regulation of cholesterol efflux|positive regulation of cholesterol homeostasis|positive regulation of fatty acid biosynthetic process|positive regulation of lipoprotein lipase activity|positive regulation of receptor biosynthetic process|positive regulation of toll-like receptor 4 signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of triglyceride biosynthetic process|regulation of circadian rhythm|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to progesterone stimulus|triglyceride homeostasis	nuclear chromatin|nucleoplasm	cholesterol binding|steroid hormone receptor activity|sterol response element binding|transcription coactivator activity|zinc ion binding	g.chr11:47290247A>T	U22662	CCDS7929.1, CCDS44584.1, CCDS44585.1, CCDS73285.1	11p11.2	2013-01-16			ENSG00000025434	ENSG00000025434		"""Nuclear hormone receptors"""	7966	protein-coding gene	gene with protein product	"""liver X receptor-alpha"""	602423				8621574, 7744246	Standard	NM_005693		Approved	LXR-a, RLD-1	uc009ylm.3	Q13133	OTTHUMG00000150628	ENST00000467728.1:c.1344A>T	11.37:g.47290247A>T	ENSP00000420656:p.*448Cysext*27					MADD_uc001neq.2_5'Flank|MADD_uc001ner.1_5'Flank|MADD_uc001nev.1_5'Flank|MADD_uc001nes.1_5'Flank|MADD_uc001net.1_5'Flank|MADD_uc009yln.1_5'Flank|MADD_uc001neu.1_5'Flank|MADD_uc001nex.2_5'Flank|MADD_uc001nez.2_5'Flank|MADD_uc001new.2_5'Flank|NR1H3_uc010rhk.1_Nonstop_Mutation_p.*454C|NR1H3_uc001nek.2_Nonstop_Mutation_p.*403C|NR1H3_uc001nej.2_Nonstop_Mutation_p.*388C|NR1H3_uc001nel.2_Nonstop_Mutation_p.*467C|NR1H3_uc001nen.3_Nonstop_Mutation_p.*388C|NR1H3_uc001nem.2_Nonstop_Mutation_p.*448C|NR1H3_uc001nep.2_Nonstop_Mutation_p.*297C	p.*448C	NM_005693	NP_005684	Q13133	NR1H3_HUMAN			10	1565	+			448					A8K3J9|D3DQR1|Q8IW13|Q96H87	Nonstop_Mutation	SNP	ENST00000467728.1	37	c.1344A>T	CCDS7929.1	.	.	.	.	.	.	.	.	.	.	A	23.5	4.419880	0.83559	.	.	ENSG00000025434	ENST00000395397;ENST00000405576;ENST00000481889;ENST00000407404;ENST00000441012;ENST00000467728;ENST00000405853;ENST00000527949	.	.	.	5.8	5.8	0.92144	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.7172	0.69277	1.0:0.0:0.0:0.0	.	.	.	.	C	403;343;467;388;448;448;388;297	.	.	X	+	3	0	NR1H3	47246823	1.000000	0.71417	0.998000	0.56505	0.921000	0.55340	8.604000	0.90877	2.219000	0.72066	0.533000	0.62120	TGA		PASS	0.547	NR1H3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319214.3			10	94	10	94	---	---	---	---
OR4A16	81327	broad.mit.edu	37	11	55111021	55111021	+	Silent	SNP	G	G	T			TCGA-34-2608-01A-02D-1522-08	TCGA-34-2608-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3c90209b-b6f6-40b2-a374-6cd37d6d3895	ca1f5f6f-bef8-49af-8bd0-c8beb0c4c53b	g.chr11:55111021G>T	ENST00000314721.2	+	1	395	c.345G>T	c.(343-345)gtG>gtT	p.V115V		NM_001005274.1	NP_001005274.1	Q8NH70	O4A16_HUMAN	olfactory receptor, family 4, subfamily A, member 16	115						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.V115V(1)		NS(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	51						TTTTGGTGGTGATGGCCTATG	0.458																																						uc010rie.1																			1	Substitution - coding silent(1)		lung(1)	large_intestine(2)|pancreas(1)	3						c.(343-345)GTG>GTT		olfactory receptor, family 4, subfamily A,							193.0	179.0	184.0					11																	55111021		2201	4296	6497	SO:0001819	synonymous_variant	81327				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55111021G>T	AB065519	CCDS31499.1	11q11	2012-08-09			ENSG00000181961	ENSG00000181961		"""GPCR / Class A : Olfactory receptors"""	15153	protein-coding gene	gene with protein product							Standard	NM_001005274		Approved	OR4A16Q	uc010rie.2	Q8NH70	OTTHUMG00000166710	ENST00000314721.2:c.345G>T	11.37:g.55111021G>T							p.V115V	NM_001005274	NP_001005274	Q8NH70	O4A16_HUMAN			1	345	+			115			Helical; Name=3; (Potential).		Q6IFL3	Silent	SNP	ENST00000314721.2	37	c.345G>T	CCDS31499.1																																																																																				PASS	0.458	OR4A16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391160.1	NM_001005274		12	481	12	481	---	---	---	---
OR4C16	219428	broad.mit.edu	37	11	55339883	55339883	+	Missense_Mutation	SNP	G	G	A	rs150706012		TCGA-34-2608-01A-02D-1522-08	TCGA-34-2608-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3c90209b-b6f6-40b2-a374-6cd37d6d3895	ca1f5f6f-bef8-49af-8bd0-c8beb0c4c53b	g.chr11:55339883G>A	ENST00000314634.3	+	1	280	c.280G>A	c.(280-282)Gag>Aag	p.E94K		NM_001004701.2	NP_001004701.2	Q8NGL9	OR4CG_HUMAN	olfactory receptor, family 4, subfamily C, member 16 (gene/pseudogene)	94						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.E94K(1)		central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(1)|lung(28)|ovary(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	41		all_epithelial(135;0.0748)				CTCCTTCAGCGAGTGCATGAT	0.458																																						uc010rih.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|skin(1)	2						c.(280-282)GAG>AAG		olfactory receptor, family 4, subfamily C,							259.0	245.0	250.0					11																	55339883		2201	4296	6497	SO:0001583	missense	219428				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55339883G>A	AB065773	CCDS31502.1	11q11	2013-10-10	2013-10-10		ENSG00000181935	ENSG00000181935		"""GPCR / Class A : Olfactory receptors"""	15172	protein-coding gene	gene with protein product			"""olfactory receptor, family 4, subfamily C, member 16"""				Standard	NM_001004701		Approved		uc010rih.2	Q8NGL9	OTTHUMG00000165198	ENST00000314634.3:c.280G>A	11.37:g.55339883G>A	ENSP00000324913:p.Glu94Lys						p.E94K	NM_001004701	NP_001004701	Q8NGL9	OR4CG_HUMAN			1	280	+		all_epithelial(135;0.0748)	94			Extracellular (Potential).		Q6IEV8	Missense_Mutation	SNP	ENST00000314634.3	37	c.280G>A	CCDS31502.1	.	.	.	.	.	.	.	.	.	.	G	9.594	1.126966	0.20959	.	.	ENSG00000181935	ENST00000314634	T	0.03004	4.08	4.98	3.0	0.34707	GPCR, rhodopsin-like superfamily (1);	0.089091	0.49305	D	0.000155	T	0.05456	0.0144	M	0.72353	2.195	0.09310	N	1	P	0.39737	0.685	B	0.34652	0.187	T	0.24512	-1.0158	10	0.72032	D	0.01	.	9.9049	0.41370	0.0:0.1501:0.6946:0.1553	.	94	Q8NGL9	OR4CG_HUMAN	K	94	ENSP00000324913:E94K	ENSP00000324913:E94K	E	+	1	0	OR4C16	55096459	0.009000	0.17119	0.301000	0.25044	0.287000	0.27160	1.677000	0.37576	1.319000	0.45190	0.549000	0.68633	GAG		PASS	0.458	OR4C16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382627.1	NM_001004701		44	358	44	358	---	---	---	---
OR10Q1	219960	broad.mit.edu	37	11	57995510	57995510	+	Missense_Mutation	SNP	C	C	T			TCGA-34-2608-01A-02D-1522-08	TCGA-34-2608-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3c90209b-b6f6-40b2-a374-6cd37d6d3895	ca1f5f6f-bef8-49af-8bd0-c8beb0c4c53b	g.chr11:57995510C>T	ENST00000316770.2	-	1	880	c.838G>A	c.(838-840)Gcg>Acg	p.A280T		NM_001004471.2	NP_001004471.1	Q8NGQ4	O10Q1_HUMAN	olfactory receptor, family 10, subfamily Q, member 1	280						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.A280T(1)		autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)	35		Breast(21;0.0589)				TAGACCAACGCGATTTGGCTG	0.547																																						uc010rkd.1																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(838-840)GCG>ACG		olfactory receptor, family 10, subfamily Q,							125.0	111.0	116.0					11																	57995510		2201	4295	6496	SO:0001583	missense	219960				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:57995510C>T	AB065735	CCDS31547.1	11q12.1	2012-08-09			ENSG00000180475	ENSG00000180475		"""GPCR / Class A : Olfactory receptors"""	15134	protein-coding gene	gene with protein product							Standard	NM_001004471		Approved		uc010rkd.2	Q8NGQ4	OTTHUMG00000167542	ENST00000316770.2:c.838G>A	11.37:g.57995510C>T	ENSP00000314324:p.Ala280Thr						p.A280T	NM_001004471	NP_001004471	Q8NGQ4	O10Q1_HUMAN			1	838	-		Breast(21;0.0589)	280			Helical; Name=7; (Potential).		Q6IFG4	Missense_Mutation	SNP	ENST00000316770.2	37	c.838G>A	CCDS31547.1	.	.	.	.	.	.	.	.	.	.	C	11.84	1.759408	0.31137	.	.	ENSG00000180475	ENST00000316770	T	0.00152	8.66	5.07	5.07	0.68467	GPCR, rhodopsin-like superfamily (1);	0.000000	0.42420	D	0.000716	T	0.00271	0.0008	L	0.35723	1.085	0.09310	N	1	D	0.71674	0.998	D	0.66351	0.943	T	0.68864	-0.5296	10	0.31617	T	0.26	.	10.9225	0.47174	0.2833:0.7167:0.0:0.0	.	280	Q8NGQ4	O10Q1_HUMAN	T	280	ENSP00000314324:A280T	ENSP00000314324:A280T	A	-	1	0	OR10Q1	57752086	0.062000	0.20869	0.502000	0.27614	0.235000	0.25334	0.467000	0.22035	2.638000	0.89438	0.650000	0.86243	GCG		PASS	0.547	OR10Q1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394706.1	NM_001004471		12	126	12	126	---	---	---	---
OR10Q1	219960	broad.mit.edu	37	11	57995829	57995829	+	Silent	SNP	G	G	A			TCGA-34-2608-01A-02D-1522-08	TCGA-34-2608-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3c90209b-b6f6-40b2-a374-6cd37d6d3895	ca1f5f6f-bef8-49af-8bd0-c8beb0c4c53b	g.chr11:57995829G>A	ENST00000316770.2	-	1	561	c.519C>T	c.(517-519)tgC>tgT	p.C173C		NM_001004471.2	NP_001004471.1	Q8NGQ4	O10Q1_HUMAN	olfactory receptor, family 10, subfamily Q, member 1	173						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.C173C(1)		autonomic_ganglia(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(26)|ovary(2)	35		Breast(21;0.0589)				GGTGGTGGCCGCAAAAGGGCA	0.652																																						uc010rkd.1																			1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(517-519)TGC>TGT		olfactory receptor, family 10, subfamily Q,							59.0	51.0	54.0					11																	57995829		2201	4295	6496	SO:0001819	synonymous_variant	219960				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:57995829G>A	AB065735	CCDS31547.1	11q12.1	2012-08-09			ENSG00000180475	ENSG00000180475		"""GPCR / Class A : Olfactory receptors"""	15134	protein-coding gene	gene with protein product							Standard	NM_001004471		Approved		uc010rkd.2	Q8NGQ4	OTTHUMG00000167542	ENST00000316770.2:c.519C>T	11.37:g.57995829G>A							p.C173C	NM_001004471	NP_001004471	Q8NGQ4	O10Q1_HUMAN			1	519	-		Breast(21;0.0589)	173			Extracellular (Potential).		Q6IFG4	Silent	SNP	ENST00000316770.2	37	c.519C>T	CCDS31547.1																																																																																				PASS	0.652	OR10Q1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394706.1	NM_001004471		4	59	4	59	---	---	---	---
ZFP91	80829	broad.mit.edu	37	11	58384221	58384221	+	Missense_Mutation	SNP	C	C	G			TCGA-34-2608-01A-02D-1522-08	TCGA-34-2608-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3c90209b-b6f6-40b2-a374-6cd37d6d3895	ca1f5f6f-bef8-49af-8bd0-c8beb0c4c53b	g.chr11:58384221C>G	ENST00000316059.6	+	10	1306	c.1135C>G	c.(1135-1137)Cgg>Ggg	p.R379G	ZFP91-CNTF_ENST00000389919.4_Missense_Mutation_p.R379G	NM_001197051.1|NM_053023.4	NP_001183980.1|NP_444251.1	Q96JP5	ZFP91_HUMAN	ZFP91 zinc finger protein	379					activation of NF-kappaB-inducing kinase activity (GO:0007250)|protein K63-linked ubiquitination (GO:0070534)	nucleus (GO:0005634)	ligase activity (GO:0016874)|metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)|ubiquitin-protein transferase activity (GO:0004842)	p.R379G(2)		cervix(1)|endometrium(4)|kidney(4)|large_intestine(4)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	26		Breast(21;0.00725)|all_epithelial(135;0.0101)|all_lung(304;0.24)				ATATTGTGCTCGGGCCTTCAA	0.403																																						uc001nmx.3																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(1135-1137)CGG>GGG		zinc finger protein 91							76.0	75.0	75.0					11																	58384221		2201	4295	6496	SO:0001583	missense	80829				activation of NF-kappaB-inducing kinase activity|protein K63-linked ubiquitination	nucleus	nucleic acid binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr11:58384221C>G	AB056107	CCDS31553.1	11q12	2012-11-27	2012-11-27		ENSG00000186660	ENSG00000186660		"""Zinc fingers, C2H2-type"""	14983	protein-coding gene	gene with protein product			"""zinc finger protein homologous to Zfp91 in mouse"", ""zinc finger protein 91 homolog (mouse)"""			12738986, 20682767	Standard	NM_053023		Approved	PZF, ZNF757	uc001nmx.4	Q96JP5	OTTHUMG00000137391	ENST00000316059.6:c.1135C>G	11.37:g.58384221C>G	ENSP00000339030:p.Arg379Gly					ZFP91_uc001nmy.3_Missense_Mutation_p.R378G|ZFP91-CNTF_uc010rkm.1_RNA	p.R379G	NM_053023	NP_444251	Q96JP5	ZFP91_HUMAN			10	1303	+		Breast(21;0.00725)|all_epithelial(135;0.0101)|all_lung(304;0.24)	379			C2H2-type 3.		A6NHC4|A8MSG7|Q86V47|Q96JP4|Q96QA3	Missense_Mutation	SNP	ENST00000316059.6	37	c.1135C>G	CCDS31553.1	.	.	.	.	.	.	.	.	.	.	C	23.5	4.421963	0.83559	.	.	ENSG00000186660	ENST00000316059;ENST00000389918	T	0.16073	2.37	5.79	4.87	0.63330	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.64402	D	0.000001	T	0.38692	0.1050	M	0.69358	2.11	0.58432	D	0.999999	D;D	0.71674	0.998;0.997	D;D	0.64687	0.914;0.928	T	0.28073	-1.0055	10	0.87932	D	0	-9.8381	14.9144	0.70785	0.1522:0.8478:0.0:0.0	.	379;379	Q96JP5-2;Q96JP5	.;ZFP91_HUMAN	G	379	ENSP00000339030:R379G	ENSP00000374569:R379G	R	+	1	2	ZFP91	58140797	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.614000	0.61183	1.422000	0.47177	0.557000	0.71058	CGG		PASS	0.403	ZFP91-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268674.1	NM_053023		5	88	5	88	---	---	---	---
PYGM	5837	broad.mit.edu	37	11	64517934	64517934	+	Silent	SNP	A	A	G			TCGA-34-2608-01A-02D-1522-08	TCGA-34-2608-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3c90209b-b6f6-40b2-a374-6cd37d6d3895	ca1f5f6f-bef8-49af-8bd0-c8beb0c4c53b	g.chr11:64517934A>G	ENST00000164139.3	-	17	2489	c.2091T>C	c.(2089-2091)aaT>aaC	p.N697N	PYGM_ENST00000462303.1_5'Flank|PYGM_ENST00000377432.3_Silent_p.N609N	NM_005609.2	NP_005600.1	P11217	PYGM_HUMAN	phosphorylase, glycogen, muscle	697					carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|glycogen metabolic process (GO:0005977)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	glycogen phosphorylase activity (GO:0008184)|nucleotide binding (GO:0000166)|pyridoxal phosphate binding (GO:0030170)	p.N697N(1)		cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						CCATCTCCACATTGGCCCCGT	0.567																																						uc001oax.3																			1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(2089-2091)AAT>AAC		muscle glycogen phosphorylase isoform 1	Pyridoxal Phosphate(DB00114)						182.0	168.0	173.0					11																	64517934		2201	4297	6498	SO:0001819	synonymous_variant	5837				glucose metabolic process|glycogen catabolic process	cytosol	glycogen phosphorylase activity|protein binding	g.chr11:64517934A>G		CCDS8079.1, CCDS53659.1	11q12-q13.2	2013-03-01	2008-07-31		ENSG00000068976	ENSG00000068976	2.4.1.1	"""Glycogen phosphorylases"""	9726	protein-coding gene	gene with protein product	"""McArdle syndrome"", ""glycogen storage disease type V"", ""glycogen phosphorylase, muscle form"""	608455	"""phosphorylase, glycogen; muscle"""				Standard	NM_005609		Approved		uc001oax.4	P11217	OTTHUMG00000066835	ENST00000164139.3:c.2091T>C	11.37:g.64517934A>G						PYGM_uc001oay.3_Silent_p.N609N	p.N697N	NM_005609	NP_005600	P11217	PYGM_HUMAN			17	2908	-			697					A0AVK1|A6NDY6	Silent	SNP	ENST00000164139.3	37	c.2091T>C	CCDS8079.1																																																																																				PASS	0.567	PYGM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143254.2	NM_005609		36	187	36	187	---	---	---	---
CDC42BPG	55561	broad.mit.edu	37	11	64606676	64606676	+	Silent	SNP	C	C	T	rs149531322		TCGA-34-2608-01A-02D-1522-08	TCGA-34-2608-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3c90209b-b6f6-40b2-a374-6cd37d6d3895	ca1f5f6f-bef8-49af-8bd0-c8beb0c4c53b	g.chr11:64606676C>T	ENST00000342711.5	-	7	704	c.705G>A	c.(703-705)ccG>ccA	p.P235P		NM_017525.2	NP_059995.2			CDC42 binding protein kinase gamma (DMPK-like)									p.P235P(1)		central_nervous_system(1)|lung(3)	4						AGATATAGTCCGGCGTCCCTA	0.617																																						uc001obs.3																			1	Substitution - coding silent(1)		lung(1)	lung(3)|central_nervous_system(1)	4						c.(703-705)CCG>CCA		CDC42 binding protein kinase gamma (DMPK-like)		C		0,4402		0,0,2201	95.0	90.0	92.0		705	-10.5	0.0	11	dbSNP_134	92	2,8592	2.2+/-6.3	0,2,4295	no	coding-synonymous	CDC42BPG	NM_017525.2		0,2,6496	TT,TC,CC		0.0233,0.0,0.0154		235/1552	64606676	2,12994	2201	4297	6498	SO:0001819	synonymous_variant	55561				actin cytoskeleton reorganization|intracellular signal transduction	cell leading edge|centrosome	ATP binding|magnesium ion binding|protein binding|protein serine/threonine kinase activity|small GTPase regulator activity	g.chr11:64606676C>T	AY648038	CCDS31601.1	11q13	2013-01-10			ENSG00000171219	ENSG00000171219		"""Pleckstrin homology (PH) domain containing"""	29829	protein-coding gene	gene with protein product		613991				9341881, 15194684	Standard	NM_017525		Approved	HSMDPKIN, MRCKgamma, DMPK2, kappa-200	uc001obs.4	Q6DT37	OTTHUMG00000045365	ENST00000342711.5:c.705G>A	11.37:g.64606676C>T							p.P235P	NM_017525	NP_059995	Q6DT37	MRCKG_HUMAN			7	705	-			235			Protein kinase.			Silent	SNP	ENST00000342711.5	37	c.705G>A	CCDS31601.1																																																																																				PASS	0.617	CDC42BPG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000105352.4	XM_290516		12	148	12	148	---	---	---	---
NPAS4	266743	broad.mit.edu	37	11	66189957	66189957	+	Missense_Mutation	SNP	C	C	A			TCGA-34-2608-01A-02D-1522-08	TCGA-34-2608-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3c90209b-b6f6-40b2-a374-6cd37d6d3895	ca1f5f6f-bef8-49af-8bd0-c8beb0c4c53b	g.chr11:66189957C>A	ENST00000311034.2	+	3	539	c.363C>A	c.(361-363)gaC>gaA	p.D121E		NM_178864.3	NP_849195.2	Q8IUM7	NPAS4_HUMAN	neuronal PAS domain protein 4	121	PAS 1. {ECO:0000255|PROSITE- ProRule:PRU00140}.				positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|signal transducer activity (GO:0004871)	p.D121E(1)		breast(4)|endometrium(2)|kidney(3)|large_intestine(11)|liver(2)|lung(20)|ovary(1)|prostate(3)|skin(3)	49						GCATCTACGACATCATTGACC	0.557																																						uc001ohx.1																			1	Substitution - Missense(1)		lung(1)		0						c.(361-363)GAC>GAA		neuronal PAS domain protein 4							174.0	147.0	156.0					11																	66189957		2200	4295	6495	SO:0001583	missense	266743				transcription, DNA-dependent		DNA binding|signal transducer activity	g.chr11:66189957C>A	AB049469	CCDS8138.1	11q13.2	2013-05-21			ENSG00000174576	ENSG00000174576		"""Basic helix-loop-helix proteins"""	18983	protein-coding gene	gene with protein product		608554				14701734	Standard	NM_178864		Approved	PASD10, NXF, Le-PAS, bHLHe79	uc001ohx.1	Q8IUM7	OTTHUMG00000167045	ENST00000311034.2:c.363C>A	11.37:g.66189957C>A	ENSP00000311196:p.Asp121Glu					NPAS4_uc010rpc.1_5'UTR	p.D121E	NM_178864	NP_849195	Q8IUM7	NPAS4_HUMAN			3	539	+			121			PAS 1.		B7ZL81|Q8N8S5|Q8N9Q9	Missense_Mutation	SNP	ENST00000311034.2	37	c.363C>A	CCDS8138.1	.	.	.	.	.	.	.	.	.	.	C	17.53	3.412437	0.62511	.	.	ENSG00000174576	ENST00000311034	T	0.17370	2.28	4.71	2.63	0.31362	PAS (2);	0.000000	0.64402	D	0.000014	T	0.24736	0.0600	L	0.36672	1.1	0.58432	D	0.999999	D	0.89917	1.0	D	0.85130	0.997	T	0.03887	-1.0995	10	0.17369	T	0.5	-17.2013	8.6488	0.34022	0.0:0.7893:0.0:0.2107	.	121	Q8IUM7	NPAS4_HUMAN	E	121	ENSP00000311196:D121E	ENSP00000311196:D121E	D	+	3	2	NPAS4	65946533	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.315000	0.33608	1.165000	0.42670	0.563000	0.77884	GAC		PASS	0.557	NPAS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392634.1	NM_178864		22	171	22	171	---	---	---	---
CCND1	595	broad.mit.edu	37	11	69458669	69458669	+	Missense_Mutation	SNP	G	G	A			TCGA-34-2608-01A-02D-1522-08	TCGA-34-2608-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3c90209b-b6f6-40b2-a374-6cd37d6d3895	ca1f5f6f-bef8-49af-8bd0-c8beb0c4c53b	g.chr11:69458669G>A	ENST00000227507.2	+	3	711	c.484G>A	c.(484-486)Gaa>Aaa	p.E162K	CCND1_ENST00000536559.1_Intron	NM_053056.2	NP_444284.1	P24385	CCND1_HUMAN	cyclin D1	162					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)	p.E162K(1)		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)	CGATTTCATTGAACACTTCCT	0.572			T	"""IGH@, FSTL3"""	"""CLL, B-ALL, breast"""					Multiple Myeloma(6;0.086)																											Pancreas(65;393 884 2788 21700 24360 27795 36895)	uc001opa.2				Dom	yes		11	11q13	595	T	cyclin D1			"""L, E"""	IGH@|FSTL3		CLL|B-ALL|breast		1	Substitution - Missense(1)		lung(1)	ovary(1)|lung(1)	2						c.(484-486)GAA>AAA		cyclin D1	Arsenic trioxide(DB01169)						116.0	88.0	98.0					11																	69458669		2200	4294	6494	SO:0001583	missense	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.chr11:69458669G>A	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.484G>A	11.37:g.69458669G>A	ENSP00000227507:p.Glu162Lys	Multiple Myeloma(6;0.086)					p.E162K	NM_053056	NP_444284	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)		3	693	+	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)		162					Q6LEF0	Missense_Mutation	SNP	ENST00000227507.2	37	c.484G>A	CCDS8191.1	.	.	.	.	.	.	.	.	.	.	G	17.99	3.523236	0.64747	.	.	ENSG00000110092	ENST00000227507;ENST00000539241	T	0.23147	1.92	4.29	3.34	0.38264	Cyclin, C-terminal (1);Cyclin-like (2);	0.105878	0.64402	D	0.000007	T	0.27205	0.0667	L	0.42245	1.32	0.80722	D	1	P	0.38110	0.618	B	0.43331	0.416	T	0.02471	-1.1154	10	0.34782	T	0.22	.	12.8201	0.57688	0.0:0.3152:0.6848:0.0	.	162	P24385	CCND1_HUMAN	K	162	ENSP00000227507:E162K	ENSP00000227507:E162K	E	+	1	0	CCND1	69167850	1.000000	0.71417	0.951000	0.38953	0.185000	0.23345	5.216000	0.65246	0.882000	0.36016	0.561000	0.74099	GAA		PASS	0.572	CCND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396775.2	NM_053056		10	72	10	72	---	---	---	---
FAT3	120114	broad.mit.edu	37	11	92614037	92614037	+	Missense_Mutation	SNP	C	C	A			TCGA-34-2608-01A-02D-1522-08	TCGA-34-2608-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3c90209b-b6f6-40b2-a374-6cd37d6d3895	ca1f5f6f-bef8-49af-8bd0-c8beb0c4c53b	g.chr11:92614037C>A	ENST00000298047.6	+	22	12285	c.12268C>A	c.(12268-12270)Ctc>Atc	p.L4090I	FAT3_ENST00000409404.2_Missense_Mutation_p.L4090I|FAT3_ENST00000525166.1_Missense_Mutation_p.L3940I|FAT3_ENST00000533797.1_Missense_Mutation_p.L425I			Q8TDW7	FAT3_HUMAN	FAT atypical cadherin 3	4090	EGF-like 3. {ECO:0000255|PROSITE- ProRule:PRU00076}.				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)	p.L4090I(2)|p.L665I(1)		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)				TAAAGCTGGGCTCACTGGAGT	0.418										TCGA Ovarian(4;0.039)																												uc001pdj.3																			3	Substitution - Missense(3)		lung(3)	ovary(4)|pancreas(1)	5						c.(12268-12270)CTC>ATC		FAT tumor suppressor homolog 3							198.0	196.0	196.0					11																	92614037		1905	4127	6032	SO:0001583	missense	120114				homophilic cell adhesion|multicellular organismal development	integral to membrane|plasma membrane	calcium ion binding	g.chr11:92614037C>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.12268C>A	11.37:g.92614037C>A	ENSP00000298047:p.Leu4090Ile	TCGA Ovarian(4;0.039)				FAT3_uc001pdi.3_Missense_Mutation_p.L530I	p.L4090I	NM_001008781	NP_001008781	Q8TDW7	FAT3_HUMAN			22	12285	+		Acute lymphoblastic leukemia(157;3.01e-05)|all_hematologic(158;0.00858)	4090			EGF-like 3.|Extracellular (Potential).		B5MDB0|Q96AU6	Missense_Mutation	SNP	ENST00000298047.6	37	c.12268C>A		.	.	.	.	.	.	.	.	.	.	C	20.7	4.030774	0.75504	.	.	ENSG00000165323	ENST00000298047;ENST00000409404;ENST00000525166;ENST00000533797	D;D;D;D	0.92299	-2.27;-2.27;-2.27;-3.01	6.16	6.16	0.99307	Epidermal growth factor-like (1);EGF-like region, conserved site (1);Epidermal growth factor-like, type 3 (1);	.	.	.	.	D	0.90170	0.6928	L	0.31476	0.935	0.80722	D	1	D;P	0.58268	0.982;0.82	P;B	0.49887	0.625;0.389	D	0.90142	0.4214	9	0.52906	T	0.07	.	14.9398	0.70983	0.0:0.9325:0.0:0.0675	.	4090;4090	Q8TDW7-3;Q8TDW7	.;FAT3_HUMAN	I	4090;4090;3940;425	ENSP00000298047:L4090I;ENSP00000387040:L4090I;ENSP00000432586:L3940I;ENSP00000436399:L425I	ENSP00000298047:L4090I	L	+	1	0	FAT3	92253685	0.710000	0.27896	0.998000	0.56505	0.998000	0.95712	1.236000	0.32683	2.937000	0.99478	0.650000	0.86243	CTC		PASS	0.418	FAT3-201	KNOWN	basic	protein_coding	protein_coding		NM_001008781		61	377	61	377	---	---	---	---
APOA5	116519	broad.mit.edu	37	11	116661354	116661354	+	Silent	SNP	G	G	A			TCGA-34-2608-01A-02D-1522-08	TCGA-34-2608-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3c90209b-b6f6-40b2-a374-6cd37d6d3895	ca1f5f6f-bef8-49af-8bd0-c8beb0c4c53b	g.chr11:116661354G>A	ENST00000227665.4	-	3	625	c.591C>T	c.(589-591)agC>agT	p.S197S	APOA5_ENST00000542499.1_Silent_p.S197S|ZNF259_ENST00000227322.3_5'Flank			Q6Q788	APOA5_HUMAN	apolipoprotein A-V	197					acylglycerol homeostasis (GO:0055090)|cellular lipid metabolic process (GO:0044255)|cholesterol homeostasis (GO:0042632)|lipid transport (GO:0006869)|lipoprotein metabolic process (GO:0042157)|organ regeneration (GO:0031100)|positive regulation of fatty acid biosynthetic process (GO:0045723)|positive regulation of lipid catabolic process (GO:0050996)|positive regulation of lipoprotein lipase activity (GO:0051006)|positive regulation of receptor-mediated endocytosis (GO:0048260)|positive regulation of triglyceride catabolic process (GO:0010898)|positive regulation of very-low-density lipoprotein particle remodeling (GO:0010902)|response to hormone (GO:0009725)|small molecule metabolic process (GO:0044281)|tissue regeneration (GO:0042246)|triglyceride catabolic process (GO:0019433)|triglyceride homeostasis (GO:0070328)|triglyceride metabolic process (GO:0006641)|triglyceride-rich lipoprotein particle remodeling (GO:0034370)	chylomicron (GO:0042627)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|high-density lipoprotein particle (GO:0034364)|very-low-density lipoprotein particle (GO:0034361)	enzyme activator activity (GO:0008047)|enzyme binding (GO:0019899)|heparin binding (GO:0008201)|lipase activator activity (GO:0060229)|lipase binding (GO:0035473)|lipid binding (GO:0008289)|lipoprotein lipase activator activity (GO:0060230)|lipoprotein particle receptor binding (GO:0070325)|low-density lipoprotein particle receptor binding (GO:0050750)|phosphatidylcholine binding (GO:0031210)|phospholipid binding (GO:0005543)	p.S197S(1)		central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(8)|urinary_tract(1)	14	all_hematologic(175;0.0487)	all_cancers(61;3.31e-09)|all_epithelial(67;8.03e-06)|Breast(348;0.0126)|Melanoma(852;0.0153)|Acute lymphoblastic leukemia(157;0.0257)|Medulloblastoma(222;0.0425)|all_hematologic(158;0.0433)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|Epithelial(105;4.93e-06)|all cancers(92;0.000123)|OV - Ovarian serous cystadenocarcinoma(223;0.149)		CGCTCACCAGGCTCTCGGCGT	0.711																																						uc001ppr.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(589-591)AGC>AGT		apolipoprotein AV precursor							18.0	22.0	20.0					11																	116661354		2188	4280	6468	SO:0001819	synonymous_variant	116519				acylglycerol homeostasis|cholesterol homeostasis|lipid transport|lipoprotein metabolic process|positive regulation of fatty acid biosynthetic process|positive regulation of lipoprotein lipase activity|positive regulation of receptor-mediated endocytosis|positive regulation of triglyceride catabolic process|positive regulation of very-low-density lipoprotein particle remodeling|tissue regeneration|triglyceride catabolic process|triglyceride homeostasis	chylomicron|high-density lipoprotein particle|very-low-density lipoprotein particle	enzyme binding|heparin binding|lipoprotein lipase activator activity|low-density lipoprotein particle receptor binding|phosphatidylcholine binding	g.chr11:116661354G>A	AF202889	CCDS8376.2	11q23	2013-01-24			ENSG00000110243	ENSG00000110243		"""Apolipoproteins"""	17288	protein-coding gene	gene with protein product		606368				11588264, 11577099	Standard	NM_001166598		Approved	RAP3, APOA-V	uc009yzf.3	Q6Q788	OTTHUMG00000046116	ENST00000227665.4:c.591C>T	11.37:g.116661354G>A						ZNF259_uc001ppp.2_5'Flank|ZNF259_uc009yzd.2_5'Flank|ZNF259_uc001ppq.2_5'Flank|APOA5_uc009yze.2_Silent_p.S197S|APOA5_uc009yzf.2_Silent_p.S197S|APOA5_uc009yzg.2_Silent_p.S223S	p.S197S	NM_052968	NP_443200	Q6Q788	APOA5_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.49e-06)|Epithelial(105;4.93e-06)|all cancers(92;0.000123)|OV - Ovarian serous cystadenocarcinoma(223;0.149)	3	599	-	all_hematologic(175;0.0487)	all_cancers(61;3.31e-09)|all_epithelial(67;8.03e-06)|Breast(348;0.0126)|Melanoma(852;0.0153)|Acute lymphoblastic leukemia(157;0.0257)|Medulloblastoma(222;0.0425)|all_hematologic(158;0.0433)|all_neural(223;0.234)	197					B0YIV9|Q3MIK6|Q6UWK9|Q9UBJ3	Silent	SNP	ENST00000227665.4	37	c.591C>T	CCDS8376.2																																																																																				PASS	0.711	APOA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106285.2			5	28	5	28	---	---	---	---
SRPR	6734	broad.mit.edu	37	11	126134415	126134415	+	Missense_Mutation	SNP	G	G	T	rs149426729		TCGA-34-2608-01A-02D-1522-08	TCGA-34-2608-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3c90209b-b6f6-40b2-a374-6cd37d6d3895	ca1f5f6f-bef8-49af-8bd0-c8beb0c4c53b	g.chr11:126134415G>T	ENST00000332118.6	-	12	1699	c.1545C>A	c.(1543-1545)gaC>gaA	p.D515E	SRPR_ENST00000532259.1_Missense_Mutation_p.D487E	NM_003139.3	NP_003130.2	P08240	SRPR_HUMAN	signal recognition particle receptor (docking protein)	515					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|cotranslational protein targeting to membrane (GO:0006613)|endoplasmic reticulum unfolded protein response (GO:0030968)|gene expression (GO:0010467)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|signal recognition particle receptor complex (GO:0005785)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)|signal recognition particle binding (GO:0005047)	p.D515E(1)		endometrium(7)|large_intestine(2)|lung(9)|ovary(2)|prostate(1)	21	all_hematologic(175;0.145)			BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0736)		CCAGCACCACGTCAAAGCCTT	0.507																																						uc001qdh.2																			1	Substitution - Missense(1)		lung(1)		0						c.(1543-1545)GAC>GAA		signal recognition particle receptor							83.0	71.0	75.0					11																	126134415		2201	4299	6500	SO:0001583	missense	6734				SRP-dependent cotranslational protein targeting to membrane	integral to membrane|signal recognition particle receptor complex	GTP binding|GTPase activity|receptor activity|signal recognition particle binding	g.chr11:126134415G>T	BC001162	CCDS31717.1, CCDS53722.1	11q24-q25	2012-10-02	2008-10-29		ENSG00000182934	ENSG00000182934			11307	protein-coding gene	gene with protein product		182180	"""signal recognition particle receptor ('docking protein')"""			3340536, 1312991	Standard	NM_001177842		Approved	SRP-alpha, Sralpha	uc001qdh.3	P08240	OTTHUMG00000165826	ENST00000332118.6:c.1545C>A	11.37:g.126134415G>T	ENSP00000328023:p.Asp515Glu					SRPR_uc010sbm.1_Missense_Mutation_p.D487E	p.D515E	NM_003139	NP_003130	P08240	SRPR_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0736)	12	1596	-	all_hematologic(175;0.145)		515					A6NIB3|B2R5Z8|B4E0H3|E9PJS4|Q9BVJ4	Missense_Mutation	SNP	ENST00000332118.6	37	c.1545C>A	CCDS31717.1	.	.	.	.	.	.	.	.	.	.	G	34	5.354695	0.95854	.	.	ENSG00000182934	ENST00000332118;ENST00000532259	.	.	.	5.43	-1.3	0.09259	ATPase, AAA+ type, core (1);Signal recognition particle, SRP54 subunit, GTPase (2);	0.000000	0.85682	D	0.000000	T	0.78220	0.4249	M	0.88842	2.985	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.79784	0.993;0.993	T	0.78671	-0.2113	9	0.66056	D	0.02	-18.4522	11.5097	0.50486	0.5767:0.0:0.4232:0.0	.	487;515	E9PJS4;P08240	.;SRPR_HUMAN	E	515;487	.	ENSP00000328023:D515E	D	-	3	2	SRPR	125639625	0.943000	0.32029	0.992000	0.48379	0.988000	0.76386	0.113000	0.15499	-0.327000	0.08551	-0.321000	0.08615	GAC		PASS	0.507	SRPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386425.2	NM_003139		3	84	3	84	---	---	---	---
CACNA2D4	93589	broad.mit.edu	37	12	1902853	1902853	+	Missense_Mutation	SNP	C	C	T			TCGA-34-2608-01A-02D-1522-08	TCGA-34-2608-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3c90209b-b6f6-40b2-a374-6cd37d6d3895	ca1f5f6f-bef8-49af-8bd0-c8beb0c4c53b	g.chr12:1902853C>T	ENST00000382722.5	-	38	3744	c.3382G>A	c.(3382-3384)Gcc>Acc	p.A1128T	CACNA2D4_ENST00000588077.1_Missense_Mutation_p.A1064T|CACNA2D4_ENST00000538027.2_Missense_Mutation_p.A273T|CACNA2D4_ENST00000587995.1_Missense_Mutation_p.A1103T|CACNA2D4_ENST00000538450.1_Missense_Mutation_p.A258T	NM_172364.4	NP_758952.4	Q7Z3S7	CA2D4_HUMAN	calcium channel, voltage-dependent, alpha 2/delta subunit 4	1128					calcium ion transmembrane transport (GO:0070588)|detection of light stimulus involved in visual perception (GO:0050908)	voltage-gated calcium channel complex (GO:0005891)	metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)	p.A1128T(2)		endometrium(3)|kidney(2)|large_intestine(1)|liver(1)|lung(27)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	39	Ovarian(42;0.107)	Myeloproliferative disorder(1001;0.206)	OV - Ovarian serous cystadenocarcinoma(31;0.00113)	Kidney(2;0.0205)|KIRC - Kidney renal clear cell carcinoma(2;0.0451)		AGCCCCCAGGCACACACAGGC	0.637																																					Colon(2;101 179 21030 23310 28141)	uc001qjp.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(3382-3384)GCC>ACC		voltage-gated calcium channel alpha(2)delta-4							38.0	47.0	44.0					12																	1902853		2082	4208	6290	SO:0001583	missense	93589					integral to membrane	calcium channel activity|metal ion binding|voltage-gated ion channel activity	g.chr12:1902853C>T	AF516695	CCDS44785.1	12p13.33	2003-03-05			ENSG00000151062	ENSG00000151062		"""Calcium channel subunits"""	20202	protein-coding gene	gene with protein product		608171				12181424	Standard	NM_172364		Approved		uc021qsx.1	Q7Z3S7	OTTHUMG00000168111	ENST00000382722.5:c.3382G>A	12.37:g.1902853C>T	ENSP00000372169:p.Ala1128Thr					CACNA2D4_uc001qjo.2_Silent_p.V272V	p.A1128T	NM_172364	NP_758952	Q7Z3S7	CA2D4_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00113)	Kidney(2;0.0205)|KIRC - Kidney renal clear cell carcinoma(2;0.0451)	38	3613	-	Ovarian(42;0.107)	Myeloproliferative disorder(1001;0.206)	1128			Helical; (Potential).		Q7Z3S8|Q86XZ5|Q8IZS9	Missense_Mutation	SNP	ENST00000382722.5	37	c.3382G>A	CCDS44785.1	.	.	.	.	.	.	.	.	.	.	C	3.588	-0.084152	0.07097	.	.	ENSG00000151062	ENST00000456077;ENST00000537784;ENST00000545595;ENST00000382722;ENST00000538027;ENST00000538450	T;T	0.20200	3.04;2.09	4.8	0.67	0.17923	.	1.002760	0.08035	N	0.994255	T	0.15652	0.0377	L	0.36672	1.1	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.35895	-0.9770	10	0.21014	T	0.42	.	8.0987	0.30844	0.0:0.6112:0.0:0.3888	.	1128	Q7Z3S7	CA2D4_HUMAN	T	1064;195;195;1128;195;258	ENSP00000372169:A1128T;ENSP00000446341:A258T	ENSP00000372169:A1128T	A	-	1	0	CACNA2D4	1773114	0.115000	0.22152	0.164000	0.22755	0.034000	0.12701	-0.106000	0.10890	0.256000	0.21614	-0.291000	0.09656	GCC		PASS	0.637	CACNA2D4-001	KNOWN	non_canonical_U12|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000398230.2			4	64	4	64	---	---	---	---
CLSTN3	9746	broad.mit.edu	37	12	7303566	7303566	+	Missense_Mutation	SNP	C	C	G			TCGA-34-2608-01A-02D-1522-08	TCGA-34-2608-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3c90209b-b6f6-40b2-a374-6cd37d6d3895	ca1f5f6f-bef8-49af-8bd0-c8beb0c4c53b	g.chr12:7303566C>G	ENST00000266546.6	+	16	2884	c.2434C>G	c.(2434-2436)Cac>Gac	p.H812D	CLSTN3_ENST00000537408.1_Missense_Mutation_p.H824D	NM_014718.3	NP_055533.2	Q9BQT9	CSTN3_HUMAN	calsyntenin 3	812					homophilic cell adhesion (GO:0007156)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)	calcium ion binding (GO:0005509)	p.H812D(1)		NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(12)|lung(7)|prostate(1)|skin(1)	33						CCACCCCAGCCACGTGCTCAG	0.632																																						uc001qsr.2																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)	1						c.(2434-2436)CAC>GAC		calsyntenin 3 precursor							79.0	62.0	68.0					12																	7303566		2203	4300	6503	SO:0001583	missense	9746				homophilic cell adhesion	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|plasma membrane	calcium ion binding	g.chr12:7303566C>G	AB018269	CCDS8575.1	12p13.31	2011-07-01			ENSG00000139182	ENSG00000139182		"""Cadherins / Cadherin-related"""	18371	protein-coding gene	gene with protein product	"""cadherin-related family member 14"""	611324				12498782	Standard	NM_014718		Approved	CSTN3, KIAA0726, CDHR14	uc001qsr.3	Q9BQT9	OTTHUMG00000168167	ENST00000266546.6:c.2434C>G	12.37:g.7303566C>G	ENSP00000266546:p.His812Asp					CLSTN3_uc001qss.2_Missense_Mutation_p.H824D	p.H812D	NM_014718	NP_055533	Q9BQT9	CSTN3_HUMAN			16	2712	+			812			Extracellular (Potential).		D3DUT6|O94831|Q2T9J5|Q5UE57	Missense_Mutation	SNP	ENST00000266546.6	37	c.2434C>G	CCDS8575.1	.	.	.	.	.	.	.	.	.	.	C	22.9	4.346394	0.82022	.	.	ENSG00000139182	ENST00000266546;ENST00000537408	T;T	0.32753	1.44;1.44	5.39	5.39	0.77823	.	0.000000	0.85682	D	0.000000	T	0.53818	0.1820	M	0.73598	2.24	0.58432	D	0.999997	P;D	0.60160	0.689;0.987	B;P	0.60173	0.186;0.87	T	0.58278	-0.7664	10	0.87932	D	0	-30.1364	17.346	0.87309	0.0:1.0:0.0:0.0	.	824;812	Q5UE57;Q9BQT9	.;CSTN3_HUMAN	D	812;824	ENSP00000266546:H812D;ENSP00000440679:H824D	ENSP00000266546:H812D	H	+	1	0	CLSTN3	7194833	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	5.381000	0.66208	2.510000	0.84645	0.462000	0.41574	CAC		PASS	0.632	CLSTN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398560.2	NM_014718		13	78	13	78	---	---	---	---
CLEC9A	283420	broad.mit.edu	37	12	10217439	10217439	+	Missense_Mutation	SNP	C	C	T			TCGA-34-2608-01A-02D-1522-08	TCGA-34-2608-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3c90209b-b6f6-40b2-a374-6cd37d6d3895	ca1f5f6f-bef8-49af-8bd0-c8beb0c4c53b	g.chr12:10217439C>T	ENST00000355819.1	+	8	1193	c.580C>T	c.(580-582)Cct>Tct	p.P194S		NM_207345.2	NP_997228.1	Q6UXN8	CLC9A_HUMAN	C-type lectin domain family 9, member A	194	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				positive regulation of cytokine secretion (GO:0050715)|receptor-mediated endocytosis (GO:0006898)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)	p.P194S(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(5)|lung(8)|ovary(1)|prostate(2)|urinary_tract(1)	22						TGGCTCCTCTCCTTCTCCTGG	0.453																																						uc001qxa.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(580-582)CCT>TCT		C-type lectin domain family 9, member A							99.0	90.0	93.0					12																	10217439		2203	4300	6503	SO:0001583	missense	283420				positive regulation of cytokine secretion|receptor-mediated endocytosis	cell surface|integral to membrane	receptor activity|sugar binding	g.chr12:10217439C>T		CCDS8611.1	12p13.31	2010-04-27				ENSG00000197992		"""C-type lectin domain containing"""	26705	protein-coding gene	gene with protein product		612252					Standard	NM_207345		Approved	UNQ9341, HEEE9341	uc001qxa.3	Q6UXN8		ENST00000355819.1:c.580C>T	12.37:g.10217439C>T	ENSP00000348074:p.Pro194Ser						p.P194S	NM_207345	NP_997228	Q6UXN8	CLC9A_HUMAN			8	1193	+			194			Extracellular (Potential).|C-type lectin.		B0ZBM2	Missense_Mutation	SNP	ENST00000355819.1	37	c.580C>T	CCDS8611.1	.	.	.	.	.	.	.	.	.	.	C	12.45	1.941361	0.34283	.	.	ENSG00000197992	ENST00000355819	T	0.16073	2.37	5.23	4.34	0.51931	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	0.170388	0.28527	N	0.015023	T	0.31918	0.0812	M	0.64567	1.98	0.09310	N	1	D	0.58970	0.984	P	0.60012	0.867	T	0.06427	-1.0827	10	0.42905	T	0.14	.	10.4104	0.44289	0.0:0.9082:0.0:0.0918	.	194	Q6UXN8	CLC9A_HUMAN	S	194	ENSP00000348074:P194S	ENSP00000348074:P194S	P	+	1	0	CLEC9A	10108706	0.005000	0.15991	0.004000	0.12327	0.091000	0.18340	1.375000	0.34295	1.534000	0.49203	0.650000	0.86243	CCT		PASS	0.453	CLEC9A-001	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000399564.1	NM_207345		17	158	17	158	---	---	---	---
NELL2	4753	broad.mit.edu	37	12	45209854	45209854	+	Missense_Mutation	SNP	T	T	C			TCGA-34-2608-01A-02D-1522-08	TCGA-34-2608-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3c90209b-b6f6-40b2-a374-6cd37d6d3895	ca1f5f6f-bef8-49af-8bd0-c8beb0c4c53b	g.chr12:45209854T>C	ENST00000429094.2	-	3	754	c.250A>G	c.(250-252)Aaa>Gaa	p.K84E	NELL2_ENST00000333837.4_Missense_Mutation_p.K107E|NELL2_ENST00000549027.1_Missense_Mutation_p.K83E|NELL2_ENST00000452445.2_Missense_Mutation_p.K84E|NELL2_ENST00000548826.1_Missense_Mutation_p.K84E|NELL2_ENST00000395487.2_Missense_Mutation_p.K83E|NELL2_ENST00000437801.2_Missense_Mutation_p.K134E|NELL2_ENST00000551601.1_Missense_Mutation_p.K83E|NELL2_ENST00000547172.1_5'UTR	NM_001145108.1	NP_001138580.1	Q99435	NELL2_HUMAN	NEL-like 2 (chicken)	84	Laminin G-like.					extracellular region (GO:0005576)	calcium ion binding (GO:0005509)	p.K134E(1)|p.K84E(1)		NS(1)|breast(3)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(16)|lung(30)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	65	Lung SC(27;0.192)	Lung NSC(34;0.144)		GBM - Glioblastoma multiforme(48;0.092)		AATTCATGTTTATTTCTCAGC	0.353																																						uc001rog.2																			2	Substitution - Missense(2)		lung(2)	skin(2)|upper_aerodigestive_tract(1)|central_nervous_system(1)	4						c.(250-252)AAA>GAA		NEL-like protein 2 isoform b precursor							110.0	112.0	112.0					12																	45209854		2203	4300	6503	SO:0001583	missense	4753				cell adhesion	extracellular region	calcium ion binding|protein binding|structural molecule activity	g.chr12:45209854T>C	D83018	CCDS8746.1, CCDS44863.1, CCDS44864.1, CCDS53781.1	12q12	2012-01-30	2001-11-28		ENSG00000184613	ENSG00000184613			7751	protein-coding gene	gene with protein product		602320	"""nel (chicken)-like 2"""			19249368	Standard	NM_006159		Approved	NRP2	uc010skz.1	Q99435	OTTHUMG00000169464	ENST00000429094.2:c.250A>G	12.37:g.45209854T>C	ENSP00000390680:p.Lys84Glu					NELL2_uc001rof.3_Missense_Mutation_p.K83E|NELL2_uc001roh.2_Missense_Mutation_p.K84E|NELL2_uc009zkd.2_Missense_Mutation_p.K83E|NELL2_uc010skz.1_Missense_Mutation_p.K134E|NELL2_uc010sla.1_Missense_Mutation_p.K107E|NELL2_uc001roi.1_Missense_Mutation_p.K84E|NELL2_uc010slb.1_Missense_Mutation_p.K83E|NELL2_uc001roj.2_Missense_Mutation_p.K84E	p.K84E	NM_001145108	NP_001138580	Q99435	NELL2_HUMAN		GBM - Glioblastoma multiforme(48;0.092)	3	845	-	Lung SC(27;0.192)	Lung NSC(34;0.144)	84			TSP N-terminal.		B7Z2U7|B7Z5Q4|B7Z9J5|B7Z9U3|Q96JS2	Missense_Mutation	SNP	ENST00000429094.2	37	c.250A>G	CCDS8746.1	.	.	.	.	.	.	.	.	.	.	T	27.6	4.844796	0.91197	.	.	ENSG00000184613	ENST00000395487;ENST00000429094;ENST00000551601;ENST00000452445;ENST00000549027;ENST00000333837;ENST00000437801;ENST00000543684;ENST00000552993;ENST00000553120;ENST00000548826;ENST00000548531	T;T;T;T;T;T;T;T;T;T;T	0.01787	4.64;4.64;4.64;4.64;4.64;4.64;4.64;4.64;4.64;4.64;4.64	4.94	4.94	0.65067	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (1);Laminin G, thrombospondin-type, N-terminal (1);	0.047464	0.85682	D	0.000000	T	0.09247	0.0228	M	0.72894	2.215	0.53005	D	0.999968	D;D;P;D;P;D	0.63880	0.993;0.989;0.94;0.97;0.877;0.969	D;P;P;P;B;P	0.70935	0.971;0.766;0.62;0.587;0.339;0.766	T	0.01661	-1.1301	10	0.56958	D	0.05	-21.6384	14.8848	0.70560	0.0:0.0:0.0:1.0	.	107;134;83;84;84;83	B7Z2U7;B7Z9U3;F8VVB6;B3KTI3;Q99435;Q96JS2	.;.;.;.;NELL2_HUMAN;.	E	83;84;83;84;83;107;134;83;84;81;84;83	ENSP00000378866:K83E;ENSP00000390680:K84E;ENSP00000449332:K83E;ENSP00000394612:K84E;ENSP00000447927:K83E;ENSP00000327988:K107E;ENSP00000416341:K134E;ENSP00000447085:K84E;ENSP00000447384:K81E;ENSP00000448635:K84E;ENSP00000449068:K83E	ENSP00000327988:K107E	K	-	1	0	NELL2	43496121	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.957000	0.76019	1.981000	0.57761	0.482000	0.46254	AAA		PASS	0.353	NELL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404180.1	NM_006159		44	264	44	264	---	---	---	---
DDN	23109	broad.mit.edu	37	12	49391375	49391375	+	Silent	SNP	C	C	T			TCGA-34-2608-01A-02D-1522-08	TCGA-34-2608-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3c90209b-b6f6-40b2-a374-6cd37d6d3895	ca1f5f6f-bef8-49af-8bd0-c8beb0c4c53b	g.chr12:49391375C>T	ENST00000421952.2	-	2	1305	c.1284G>A	c.(1282-1284)gaG>gaA	p.E428E	RP11-386G11.5_ENST00000547395.1_RNA|RP11-386G11.5_ENST00000547866.1_RNA|RP11-386G11.5_ENST00000552284.1_RNA|RP11-386G11.5_ENST00000552933.1_RNA|RP11-386G11.3_ENST00000549516.1_RNA	NM_015086.1	NP_055901.2	O94850	DEND_HUMAN	dendrin	428	Interaction with ACTN1.|Interaction with CD2AP and NPHS1. {ECO:0000250}.					cell projection (GO:0042995)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.E374E(1)		NS(1)|kidney(1)|large_intestine(1)|lung(3)|prostate(1)|stomach(1)	8						CCTTCCAACCCTCCAGGGTCT	0.667																																						uc001rsv.1																			1	Substitution - coding silent(1)		lung(1)	large_intestine(1)	1						c.(1282-1284)GAG>GAA		dendrin							38.0	41.0	40.0					12																	49391375		2203	4299	6502	SO:0001819	synonymous_variant	23109					dendritic spine membrane|endoplasmic reticulum membrane|nucleus|perikaryon		g.chr12:49391375C>T	AB018292	CCDS31791.2	12q13	2008-02-05			ENSG00000181418	ENSG00000181418			24458	protein-coding gene	gene with protein product		610588					Standard	NM_015086		Approved	KIAA0749	uc001rsv.1	O94850	OTTHUMG00000156183	ENST00000421952.2:c.1284G>A	12.37:g.49391375C>T						uc001rsw.2_5'Flank	p.E428E	NM_015086	NP_055901	O94850	DEND_HUMAN			2	1302	-			428			Interaction with CD2AP and NPHS1 (By similarity).|Interaction with ACTN1.			Silent	SNP	ENST00000421952.2	37	c.1284G>A	CCDS31791.2																																																																																				PASS	0.667	DDN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343335.1			23	101	23	101	---	---	---	---
DCN	1634	broad.mit.edu	37	12	91546946	91546946	+	Missense_Mutation	SNP	C	C	T			TCGA-34-2608-01A-02D-1522-08	TCGA-34-2608-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3c90209b-b6f6-40b2-a374-6cd37d6d3895	ca1f5f6f-bef8-49af-8bd0-c8beb0c4c53b	g.chr12:91546946C>T	ENST00000052754.5	-	6	1174	c.673G>A	c.(673-675)Gaa>Aaa	p.E225K	DCN_ENST00000393155.1_Missense_Mutation_p.E225K|DCN_ENST00000552962.1_Missense_Mutation_p.E225K|DCN_ENST00000441303.2_Intron|DCN_ENST00000456569.2_Intron|DCN_ENST00000303320.3_Intron|DCN_ENST00000420120.2_Missense_Mutation_p.E116K|DCN_ENST00000228329.5_Missense_Mutation_p.E116K|DCN_ENST00000425043.1_Missense_Mutation_p.E78K|DCN_ENST00000547568.2_Missense_Mutation_p.E78K	NM_001920.3	NP_001911.1	P07585	PGS2_HUMAN	decorin	225					aging (GO:0007568)|carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate catabolic process (GO:0030207)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|glycosaminoglycan metabolic process (GO:0030203)|kidney development (GO:0001822)|organ morphogenesis (GO:0009887)|peptide cross-linking via chondroitin 4-sulfate glycosaminoglycan (GO:0019800)|placenta development (GO:0001890)|response to lipopolysaccharide (GO:0032496)|response to mechanical stimulus (GO:0009612)|skeletal muscle tissue development (GO:0007519)|small molecule metabolic process (GO:0044281)|wound healing (GO:0042060)	collagen type VI trimer (GO:0005589)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|Golgi lumen (GO:0005796)|lysosomal lumen (GO:0043202)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix binding (GO:0050840)|glycosaminoglycan binding (GO:0005539)|poly(A) RNA binding (GO:0044822)	p.E225K(1)		central_nervous_system(2)|cervix(1)|kidney(2)|large_intestine(4)|liver(1)|lung(8)|ovary(1)|skin(1)	20						AGATGTAATTCCGTAAGGGAA	0.343																																						uc001tbs.2																			1	Substitution - Missense(1)		lung(1)	central_nervous_system(2)|ovary(1)|lung(1)	4						c.(673-675)GAA>AAA		decorin isoform a preproprotein							131.0	124.0	126.0					12																	91546946		2203	4300	6503	SO:0001583	missense	1634				organ morphogenesis	extracellular space		g.chr12:91546946C>T	AF138300	CCDS9039.1, CCDS9040.1, CCDS9041.1, CCDS9042.1, CCDS44951.1	12q21.33	2014-04-16			ENSG00000011465	ENSG00000011465		"""Proteoglycans / Extracellular Matrix : Small leucine-rich repeats"""	2705	protein-coding gene	gene with protein product	"""decorin proteoglycan"""	125255				8432526	Standard	NM_133507		Approved	DSPG2, SLRR1B	uc001tbt.3	P07585	OTTHUMG00000169998	ENST00000052754.5:c.673G>A	12.37:g.91546946C>T	ENSP00000052754:p.Glu225Lys					DCN_uc001tbo.2_Missense_Mutation_p.E116K|DCN_uc001tbp.2_Missense_Mutation_p.E78K|DCN_uc001tbq.2_Intron|DCN_uc001tbr.2_Intron|DCN_uc001tbt.2_Missense_Mutation_p.E225K|DCN_uc001tbu.2_Missense_Mutation_p.E225K	p.E225K	NM_133503	NP_598010	P07585	PGS2_HUMAN			5	767	-			225			LRR 7.		Q9P0Z0|Q9P0Z1|Q9Y5N8|Q9Y5N9	Missense_Mutation	SNP	ENST00000052754.5	37	c.673G>A	CCDS9039.1	.	.	.	.	.	.	.	.	.	.	C	23.5	4.419647	0.83559	.	.	ENSG00000011465	ENST00000052754;ENST00000228329;ENST00000393155;ENST00000425043;ENST00000552962;ENST00000420120;ENST00000547568;ENST00000546391	T;T;T;T;T;T;T;T	0.57907	0.37;0.37;0.37;0.37;0.37;0.37;0.37;0.37	5.33	4.44	0.53790	.	0.150665	0.64402	D	0.000019	T	0.61400	0.2344	L	0.35414	1.06	0.80722	D	1	D;P;D	0.89917	0.965;0.92;1.0	P;P;D	0.83275	0.849;0.582;0.996	T	0.61763	-0.6996	10	0.45353	T	0.12	.	13.9115	0.63869	0.0:0.9266:0.0:0.0734	.	225;78;116	P07585;P07585-3;P07585-2	PGS2_HUMAN;.;.	K	225;116;225;78;225;116;78;78	ENSP00000052754:E225K;ENSP00000228329:E116K;ENSP00000376862:E225K;ENSP00000401021:E78K;ENSP00000447654:E225K;ENSP00000413723:E116K;ENSP00000447674:E78K;ENSP00000446530:E78K	ENSP00000052754:E225K	E	-	1	0	DCN	90071077	1.000000	0.71417	0.940000	0.37924	0.924000	0.55760	7.818000	0.86416	1.256000	0.44068	0.591000	0.81541	GAA		PASS	0.343	DCN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406799.3	NM_133507		11	147	11	147	---	---	---	---
SLC5A8	160728	broad.mit.edu	37	12	101603402	101603402	+	Silent	SNP	G	G	T			TCGA-34-2608-01A-02D-1522-08	TCGA-34-2608-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3c90209b-b6f6-40b2-a374-6cd37d6d3895	ca1f5f6f-bef8-49af-8bd0-c8beb0c4c53b	g.chr12:101603402G>T	ENST00000536262.2	-	1	783	c.225C>A	c.(223-225)ccC>ccA	p.P75P		NM_145913.3	NP_666018.3			solute carrier family 5 (sodium/monocarboxylate cotransporter), member 8									p.P75P(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(29)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	47						AGACCTCGGAGGGGGTGCCCA	0.592																																					GBM(60;420 1056 13605 22380 47675)	uc001thz.3																			1	Substitution - coding silent(1)		lung(1)		0						c.(223-225)CCC>CCA		solute carrier family 5 (iodide transporter),							74.0	63.0	67.0					12																	101603402		2203	4300	6503	SO:0001819	synonymous_variant	160728				apoptosis|sodium ion transport	apical plasma membrane|integral to membrane	monocarboxylic acid transmembrane transporter activity|passive transmembrane transporter activity|symporter activity	g.chr12:101603402G>T	AY081220	CCDS9080.1	12q23.1	2013-07-19	2013-07-19		ENSG00000256870	ENSG00000256870		"""Solute carriers"""	19119	protein-coding gene	gene with protein product		608044	"""solute carrier family 5 (iodide transporter), member 8"""			12107270, 12829793	Standard	NM_145913		Approved	AIT	uc001thz.4	Q8N695	OTTHUMG00000170499	ENST00000536262.2:c.225C>A	12.37:g.101603402G>T							p.P75P	NM_145913	NP_666018	Q8N695	SC5A8_HUMAN			1	615	-			75			Extracellular (Potential).			Silent	SNP	ENST00000536262.2	37	c.225C>A	CCDS9080.1																																																																																				PASS	0.592	SLC5A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409401.1	NM_145913		8	62	8	62	---	---	---	---
POLR3B	55703	broad.mit.edu	37	12	106890610	106890610	+	Silent	SNP	C	C	T			TCGA-34-2608-01A-02D-1522-08	TCGA-34-2608-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3c90209b-b6f6-40b2-a374-6cd37d6d3895	ca1f5f6f-bef8-49af-8bd0-c8beb0c4c53b	g.chr12:106890610C>T	ENST00000228347.4	+	25	3120	c.2898C>T	c.(2896-2898)ggC>ggT	p.G966G	POLR3B_ENST00000539066.1_Silent_p.G908G|RP11-144F15.1_ENST00000551505.1_Intron	NM_018082.5	NP_060552.4	Q9NW08	RPC2_HUMAN	polymerase (RNA) III (DNA directed) polypeptide B	966					defense response to virus (GO:0051607)|gene expression (GO:0010467)|innate immune response (GO:0045087)|positive regulation of innate immune response (GO:0045089)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of type I interferon production (GO:0032481)|termination of RNA polymerase III transcription (GO:0006386)|transcription elongation from RNA polymerase III promoter (GO:0006385)|transcription from RNA polymerase III promoter (GO:0006383)	cytosol (GO:0005829)|DNA-directed RNA polymerase III complex (GO:0005666)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|metal ion binding (GO:0046872)|ribonucleoside binding (GO:0032549)	p.G966G(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(14)|lung(22)|ovary(1)|prostate(3)|skin(3)|urinary_tract(2)	57						CGTTTGGAGGCAGTAAAGTGA	0.522																																						uc001tlp.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(2896-2898)GGC>GGT		DNA-directed RNA polymerase III B isoform 1							218.0	167.0	184.0					12																	106890610		2203	4300	6503	SO:0001819	synonymous_variant	55703				innate immune response|positive regulation of innate immune response|positive regulation of interferon-beta production|response to virus|termination of RNA polymerase III transcription|transcription elongation from RNA polymerase III promoter	nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|ribonucleoside binding	g.chr12:106890610C>T	AY092084	CCDS9105.1, CCDS53824.1	12q23.3	2014-08-12			ENSG00000013503	ENSG00000013503		"""RNA polymerase subunits"""	30348	protein-coding gene	gene with protein product		614366				12391170	Standard	NM_018082		Approved	RPC2, FLJ10388	uc001tlp.3	Q9NW08	OTTHUMG00000170077	ENST00000228347.4:c.2898C>T	12.37:g.106890610C>T						POLR3B_uc001tlq.2_Silent_p.G908G	p.G966G	NM_018082	NP_060552	Q9NW08	RPC2_HUMAN			25	3120	+			966					A8K6H0|B3KV73|F5H1E6|Q9NW59	Silent	SNP	ENST00000228347.4	37	c.2898C>T	CCDS9105.1																																																																																				PASS	0.522	POLR3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407166.1	NM_018082		11	99	11	99	---	---	---	---
UBE3B	89910	broad.mit.edu	37	12	109921676	109921676	+	Missense_Mutation	SNP	G	G	A			TCGA-34-2608-01A-02D-1522-08	TCGA-34-2608-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3c90209b-b6f6-40b2-a374-6cd37d6d3895	ca1f5f6f-bef8-49af-8bd0-c8beb0c4c53b	g.chr12:109921676G>A	ENST00000342494.3	+	4	767	c.172G>A	c.(172-174)Gat>Aat	p.D58N	UBE3B_ENST00000340074.5_Missense_Mutation_p.D58N|UBE3B_ENST00000280774.5_Missense_Mutation_p.D58N|UBE3B_ENST00000537063.1_Missense_Mutation_p.D58N|UBE3B_ENST00000540230.1_Missense_Mutation_p.D58N|UBE3B_ENST00000434735.2_Missense_Mutation_p.D58N|UBE3B_ENST00000536398.1_Missense_Mutation_p.D58N	NM_130466.3	NP_569733.2	Q7Z3V4	UBE3B_HUMAN	ubiquitin protein ligase E3B	58	IQ. {ECO:0000255|PROSITE- ProRule:PRU00116}.				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)	p.D58N(1)		NS(1)|breast(3)|endometrium(6)|kidney(4)|large_intestine(7)|lung(20)|ovary(2)|urinary_tract(2)	45						GAGAGAGATTGATGACTTTTT	0.353																																						uc001top.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|lung(2)	4						c.(172-174)GAT>AAT		ubiquitin protein ligase E3B							121.0	124.0	123.0					12																	109921676		2203	4300	6503	SO:0001583	missense	89910				protein ubiquitination involved in ubiquitin-dependent protein catabolic process	intracellular	ubiquitin-protein ligase activity	g.chr12:109921676G>A	BC032301	CCDS9129.1, CCDS58277.1	12q24.12	2004-03-02			ENSG00000151148	ENSG00000151148			13478	protein-coding gene	gene with protein product		608047					Standard	NM_130466		Approved		uc001toq.4	Q7Z3V4	OTTHUMG00000169254	ENST00000342494.3:c.172G>A	12.37:g.109921676G>A	ENSP00000340596:p.Asp58Asn					UBE3B_uc001toq.2_Missense_Mutation_p.D58N|UBE3B_uc001tol.1_Missense_Mutation_p.D58N|UBE3B_uc001tom.2_Missense_Mutation_p.D58N|UBE3B_uc001ton.2_Missense_Mutation_p.D58N|UBE3B_uc001too.1_RNA|UBE3B_uc009zvj.1_Missense_Mutation_p.D58N|UBE3B_uc001tor.2_Missense_Mutation_p.D58N	p.D58N	NM_130466	NP_569733	Q7Z3V4	UBE3B_HUMAN			4	775	+			58			IQ.		A5D8Z3|Q05BX9|Q659F7|Q7Z7Q1|Q9BXZ4	Missense_Mutation	SNP	ENST00000342494.3	37	c.172G>A	CCDS9129.1	.	.	.	.	.	.	.	.	.	.	G	32	5.167611	0.94768	.	.	ENSG00000151148	ENST00000434735;ENST00000280774;ENST00000536398;ENST00000539599;ENST00000342494;ENST00000340074;ENST00000540230;ENST00000537063	T;T;T;T;T;T;T;T	0.65916	2.0;2.0;-0.18;2.0;2.0;-0.18;-0.18;2.0	5.35	5.35	0.76521	.	0.047163	0.85682	D	0.000000	T	0.76513	0.3998	M	0.64404	1.975	0.80722	D	1	D;P;D	0.63046	0.983;0.873;0.992	P;P;D	0.65233	0.717;0.599;0.933	T	0.78122	-0.2327	10	0.87932	D	0	.	18.2162	0.89886	0.0:0.0:1.0:0.0	.	58;58;58	Q7Z3V4;Q7Z3V4-3;F5H6D6	UBE3B_HUMAN;.;.	N	58	ENSP00000391529:D58N;ENSP00000280774:D58N;ENSP00000440585:D58N;ENSP00000443131:D58N;ENSP00000340596:D58N;ENSP00000342614:D58N;ENSP00000443565:D58N;ENSP00000437694:D58N	ENSP00000280774:D58N	D	+	1	0	UBE3B	108406059	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	8.395000	0.90188	2.780000	0.95670	0.650000	0.86243	GAT		PASS	0.353	UBE3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403119.1	NM_183415		26	203	26	203	---	---	---	---
TMEM132D	121256	broad.mit.edu	37	12	129559349	129559349	+	Missense_Mutation	SNP	C	C	T			TCGA-34-2608-01A-02D-1522-08	TCGA-34-2608-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3c90209b-b6f6-40b2-a374-6cd37d6d3895	ca1f5f6f-bef8-49af-8bd0-c8beb0c4c53b	g.chr12:129559349C>T	ENST00000422113.2	-	9	2697	c.2371G>A	c.(2371-2373)Gca>Aca	p.A791T	TMEM132D_ENST00000389441.4_Missense_Mutation_p.A329T	NM_133448.2	NP_597705.2	Q14C87	T132D_HUMAN	transmembrane protein 132D	791					negative regulation of phosphatase activity (GO:0010923)	integral component of membrane (GO:0016021)		p.A791T(1)		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)		TTGATGTTTGCCGTTCCAACA	0.478																																						uc009zyl.1																			1	Substitution - Missense(1)		lung(1)	ovary(10)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1)	14						c.(2371-2373)GCA>ACA		transmembrane protein 132D precursor							189.0	153.0	165.0					12																	129559349		2203	4300	6503	SO:0001583	missense	121256					integral to membrane		g.chr12:129559349C>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.2371G>A	12.37:g.129559349C>T	ENSP00000408581:p.Ala791Thr					TMEM132D_uc001uia.2_Missense_Mutation_p.A329T	p.A791T	NM_133448	NP_597705	Q14C87	T132D_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000288)|Epithelial(86;0.0116)|all cancers(50;0.0246)	9	2699	-	all_neural(191;0.101)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0934)|Breast(359;0.133)	791			Extracellular (Potential).		Q14C96|Q76M59|Q8N1W9|Q8N3Q5|Q8TF57	Missense_Mutation	SNP	ENST00000422113.2	37	c.2371G>A	CCDS9266.1	.	.	.	.	.	.	.	.	.	.	C	11.31	1.600125	0.28534	.	.	ENSG00000151952	ENST00000389441;ENST00000422113	T;T	0.14266	2.52;2.52	4.2	4.2	0.49525	.	0.064498	0.64402	D	0.000017	T	0.25717	0.0626	L	0.49350	1.555	0.09310	N	0.999996	P;D	0.56521	0.882;0.976	P;P	0.55713	0.503;0.782	T	0.04413	-1.0953	9	.	.	.	-33.9534	16.8845	0.86072	0.0:1.0:0.0:0.0	.	791;329	Q14C87;Q14C87-2	T132D_HUMAN;.	T	329;791	ENSP00000374092:A329T;ENSP00000408581:A791T	.	A	-	1	0	TMEM132D	128125302	0.611000	0.26992	0.043000	0.18650	0.130000	0.20726	1.379000	0.34340	2.033000	0.60031	0.462000	0.41574	GCA		PASS	0.478	TMEM132D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399592.1	NM_133448		5	240	5	240	---	---	---	---
PABPC3	5042	broad.mit.edu	37	13	25671432	25671432	+	Missense_Mutation	SNP	G	G	T			TCGA-34-2608-01A-02D-1522-08	TCGA-34-2608-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3c90209b-b6f6-40b2-a374-6cd37d6d3895	ca1f5f6f-bef8-49af-8bd0-c8beb0c4c53b	g.chr13:25671432G>T	ENST00000281589.3	+	1	1133	c.1096G>T	c.(1096-1098)Gct>Tct	p.A366S		NM_030979.2	NP_112241.2	Q9H361	PABP3_HUMAN	poly(A) binding protein, cytoplasmic 3	366	RRM 4. {ECO:0000255|PROSITE- ProRule:PRU00176}.				mRNA metabolic process (GO:0016071)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	nucleotide binding (GO:0000166)|poly(A) binding (GO:0008143)	p.A366S(1)		breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(10)|lung(21)|ovary(4)|pancreas(1)|skin(3)	47		Lung SC(185;0.0225)|Breast(139;0.0602)		all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241)		ATTGTATGTAGCTTTAGCTCA	0.483																																						uc001upy.2																			1	Substitution - Missense(1)		lung(1)	ovary(3)|skin(1)	4						c.(1096-1098)GCT>TCT		poly(A) binding protein, cytoplasmic 3							143.0	130.0	135.0					13																	25671432		2203	4300	6503	SO:0001583	missense	5042				mRNA metabolic process	cytoplasm	nucleotide binding|poly(A) RNA binding	g.chr13:25671432G>T	AF132026	CCDS9311.1	13q12-q13	2013-02-12	2001-11-28		ENSG00000151846	ENSG00000151846		"""RNA binding motif (RRM) containing"""	8556	protein-coding gene	gene with protein product	"""testis PABP"""	604680	"""poly(A)-binding protein, cytoplasmic 3"""	PABPL3		8432538, 10543404	Standard	NM_030979		Approved	PABP3, tPABP	uc001upy.3	Q9H361	OTTHUMG00000016601	ENST00000281589.3:c.1096G>T	13.37:g.25671432G>T	ENSP00000281589:p.Ala366Ser						p.A366S	NM_030979	NP_112241	Q9H361	PABP3_HUMAN		all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241)	1	1157	+		Lung SC(185;0.0225)|Breast(139;0.0602)	366			RRM 4.		Q8NHV0|Q9H086	Missense_Mutation	SNP	ENST00000281589.3	37	c.1096G>T	CCDS9311.1	.	.	.	.	.	.	.	.	.	.	G	17.71	3.457608	0.63401	.	.	ENSG00000151846	ENST00000281589	T	0.05382	3.45	1.41	1.41	0.22369	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (2);	0.000000	0.46758	U	0.000271	T	0.06096	0.0158	N	0.04203	-0.255	0.54753	D	0.999983	D	0.61080	0.989	P	0.58520	0.84	T	0.46679	-0.9174	10	0.59425	D	0.04	.	8.3066	0.32047	0.0:0.0:1.0:0.0	.	366	Q9H361	PABP3_HUMAN	S	366	ENSP00000281589:A366S	ENSP00000281589:A366S	A	+	1	0	PABPC3	24569432	1.000000	0.71417	0.996000	0.52242	0.892000	0.51952	6.589000	0.74080	0.759000	0.33084	0.313000	0.20887	GCT		PASS	0.483	PABPC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044220.2	NM_030979		14	119	14	119	---	---	---	---
AMER2	219287	broad.mit.edu	37	13	25744058	25744058	+	Missense_Mutation	SNP	G	G	T			TCGA-34-2608-01A-02D-1522-08	TCGA-34-2608-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3c90209b-b6f6-40b2-a374-6cd37d6d3895	ca1f5f6f-bef8-49af-8bd0-c8beb0c4c53b	g.chr13:25744058G>T	ENST00000515384.1	-	1	2367	c.1700C>A	c.(1699-1701)gCa>gAa	p.A567E	AMER2-AS1_ENST00000413501.1_lincRNA|AMER2_ENST00000381853.3_Missense_Mutation_p.A448E|AMER2_ENST00000357816.2_Missense_Mutation_p.A448E			Q8N7J2	AMER2_HUMAN	APC membrane recruitment protein 2	567					ectoderm development (GO:0007398)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|Wnt signaling pathway (GO:0016055)	plasma membrane (GO:0005886)	phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)	p.A448E(1)|p.A567E(1)									AGGAAGGGTTGCTGGACTTCC	0.617																																						uc001uqb.2																			2	Substitution - Missense(2)		lung(2)	ovary(2)|large_intestine(1)|lung(1)	4						c.(1699-1701)GCA>GAA		hypothetical protein LOC219287 isoform 1							91.0	84.0	86.0					13																	25744058		2203	4300	6503	SO:0001583	missense	219287							g.chr13:25744058G>T	AK055049	CCDS9312.1, CCDS53859.1	13q12.13	2013-10-11	2012-12-03	2012-12-03	ENSG00000165566	ENSG00000165566		"""-"""	26360	protein-coding gene	gene with protein product		614659	"""family with sequence similarity 123A"""	FAM123A		20843316	Standard	XM_005266279		Approved	FLJ25477	uc001uqb.3	Q8N7J2	OTTHUMG00000016602	ENST00000515384.1:c.1700C>A	13.37:g.25744058G>T	ENSP00000426528:p.Ala567Glu					FAM123A_uc001uqa.2_Missense_Mutation_p.A448E|FAM123A_uc001uqc.2_Missense_Mutation_p.A448E	p.A567E	NM_152704	NP_689917	Q8N7J2	F123A_HUMAN		all cancers(112;0.0071)|Epithelial(112;0.0398)|OV - Ovarian serous cystadenocarcinoma(117;0.151)|GBM - Glioblastoma multiforme(144;0.222)|Lung(94;0.241)	1	1800	-		Lung SC(185;0.0225)|Breast(139;0.0602)	567					Q5RL80|Q5VX56|Q8N593|Q96NN5	Missense_Mutation	SNP	ENST00000515384.1	37	c.1700C>A	CCDS53859.1	.	.	.	.	.	.	.	.	.	.	G	12.78	2.040644	0.35989	.	.	ENSG00000165566	ENST00000357816;ENST00000381853;ENST00000515384	T;T;T	0.23950	1.91;1.91;1.88	5.57	4.72	0.59763	.	0.402310	0.26750	N	0.022687	T	0.22898	0.0553	L	0.41824	1.3	0.09310	N	0.999999	B;B	0.27013	0.166;0.053	B;B	0.24701	0.055;0.032	T	0.16276	-1.0408	10	0.52906	T	0.07	-27.3116	13.9461	0.64086	0.0743:0.0:0.9257:0.0	.	567;448	Q8N7J2;Q8N7J2-2	F123A_HUMAN;.	E	448;448;567	ENSP00000350469:A448E;ENSP00000371277:A448E;ENSP00000426528:A567E	ENSP00000350469:A448E	A	-	2	0	FAM123A	24642058	0.170000	0.23016	0.026000	0.17262	0.559000	0.35586	2.906000	0.48735	2.619000	0.88677	0.561000	0.74099	GCA		PASS	0.617	AMER2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000370229.1	NM_152704		8	140	8	140	---	---	---	---
FLT1	2321	broad.mit.edu	37	13	28919626	28919626	+	Missense_Mutation	SNP	G	G	T			TCGA-34-2608-01A-02D-1522-08	TCGA-34-2608-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3c90209b-b6f6-40b2-a374-6cd37d6d3895	ca1f5f6f-bef8-49af-8bd0-c8beb0c4c53b	g.chr13:28919626G>T	ENST00000282397.4	-	16	2562	c.2311C>A	c.(2311-2313)Ctc>Atc	p.L771I	FLT1_ENST00000540678.1_5'UTR	NM_002019.4	NP_002010.2	P17948	VGFR1_HUMAN	fms-related tyrosine kinase 1	771					blood vessel morphogenesis (GO:0048514)|cell differentiation (GO:0030154)|cell migration (GO:0016477)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|embryonic morphogenesis (GO:0048598)|monocyte chemotaxis (GO:0002548)|patterning of blood vessels (GO:0001569)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|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 vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein autophosphorylation (GO:0046777)|sprouting angiogenesis (GO:0002040)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|vascular endothelial growth factor receptor-1 signaling pathway (GO:0036323)|vascular endothelial growth factor signaling pathway (GO:0038084)	endosome (GO:0005768)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|placental growth factor-activated receptor activity (GO:0036332)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor-activated receptor activity (GO:0005021)|VEGF-A-activated receptor activity (GO:0036326)|VEGF-B-activated receptor activity (GO:0036327)	p.L771I(1)		NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	115	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	Axitinib(DB06626)|Pazopanib(DB06589)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	AGCCAGAAGAGAGTCGCAGCC	0.413																																						uc001usb.3																			1	Substitution - Missense(1)		lung(1)	lung(10)|central_nervous_system(5)|ovary(3)|stomach(2)|skin(2)|urinary_tract(1)|breast(1)	24						c.(2311-2313)CTC>ATC		fms-related tyrosine kinase 1 isoform 1	Sunitinib(DB01268)						61.0	60.0	61.0					13																	28919626		2203	4300	6503	SO:0001583	missense	2321				cell differentiation|female pregnancy|positive regulation of vascular endothelial growth factor receptor signaling pathway	extracellular space|Golgi apparatus|integral to plasma membrane|nucleus	ATP binding|growth factor binding|vascular endothelial growth factor receptor activity	g.chr13:28919626G>T	AF063657	CCDS9330.1, CCDS53860.1, CCDS53861.1, CCDS73556.1	13q12	2014-09-17	2012-11-19		ENSG00000102755	ENSG00000102755	2.7.10.1	"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3763	protein-coding gene	gene with protein product	"""vascular endothelial growth factor receptor 1"", ""vascular permeability factor receptor"""	165070	"""fms-related tyrosine kinase 1 (vascular endothelial growth factor/vascular permeability factor receptor)"""	FLT		2158038	Standard	NM_001159920		Approved	VEGFR1	uc001usb.3	P17948	OTTHUMG00000016648	ENST00000282397.4:c.2311C>A	13.37:g.28919626G>T	ENSP00000282397:p.Leu771Ile					FLT1_uc001usa.3_5'UTR	p.L771I	NM_002019	NP_002010	P17948	VGFR1_HUMAN	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	16	2596	-	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	771			Helical; (Potential).		A3E342|A3E344|A8KA71|B0LPF1|B2BF46|B2BF47|B2BF48|B3FR89|B5A923|F5H5L6|O60722|P16057|Q12954	Missense_Mutation	SNP	ENST00000282397.4	37	c.2311C>A	CCDS9330.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.989686	0.74589	.	.	ENSG00000102755	ENST00000282397	T	0.79352	-1.26	5.52	5.52	0.82312	.	0.067049	0.64402	D	0.000009	D	0.83825	0.5338	M	0.62723	1.935	0.80722	D	1	D	0.69078	0.997	D	0.63597	0.916	T	0.82096	-0.0626	10	0.33940	T	0.23	.	12.7383	0.57238	0.0753:0.0:0.9247:0.0	.	771	P17948	VGFR1_HUMAN	I	771	ENSP00000282397:L771I	ENSP00000282397:L771I	L	-	1	0	FLT1	27817626	0.997000	0.39634	0.967000	0.41034	0.896000	0.52359	2.682000	0.46934	2.590000	0.87494	0.555000	0.69702	CTC		PASS	0.413	FLT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044322.1			5	60	5	60	---	---	---	---
SERTM1	400120	broad.mit.edu	37	13	37269448	37269448	+	Missense_Mutation	SNP	A	A	T	rs17853664		TCGA-34-2608-01A-02D-1522-08	TCGA-34-2608-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3c90209b-b6f6-40b2-a374-6cd37d6d3895	ca1f5f6f-bef8-49af-8bd0-c8beb0c4c53b	g.chr13:37269448A>T	ENST00000315190.3	+	2	679	c.233A>T	c.(232-234)gAg>gTg	p.E78V		NM_203451.2	NP_982276.2	A2A2V5	SRTM1_HUMAN	serine-rich and transmembrane domain containing 1	78				E -> G (in Ref. 3; AAH36540). {ECO:0000305}.		integral component of membrane (GO:0016021)		p.E78V(1)									TCCTACCCAGAGTATCCAAGC	0.453																																						uc001uvt.3																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(232-234)GAG>GTG		hypothetical protein LOC400120							123.0	123.0	123.0					13																	37269448		2203	4300	6503	SO:0001583	missense	400120					integral to membrane		g.chr13:37269448A>T		CCDS9358.1	13q13.3	2011-08-10	2011-08-10	2011-08-09	ENSG00000180440	ENSG00000180440			33792	protein-coding gene	gene with protein product			"""chromosome 13 open reading frame 36"""	C13orf36			Standard	NM_203451		Approved		uc001uvt.4	A2A2V5	OTTHUMG00000016735	ENST00000315190.3:c.233A>T	13.37:g.37269448A>T	ENSP00000325776:p.Glu78Val						p.E78V	NM_203451	NP_982276	A2A2V5	CM036_HUMAN			2	679	+			78	E -> G (in Ref. 3; AAH36540).				Q8N469	Missense_Mutation	SNP	ENST00000315190.3	37	c.233A>T	CCDS9358.1	.	.	.	.	.	.	.	.	.	.	A	17.29	3.351027	0.61183	.	.	ENSG00000180440	ENST00000315190	.	.	.	5.18	5.18	0.71444	.	0.179847	0.49305	D	0.000154	T	0.49575	0.1565	N	0.14661	0.345	0.48696	D	0.999696	D	0.58620	0.983	P	0.54759	0.76	T	0.57510	-0.7799	9	0.72032	D	0.01	-10.4213	14.219	0.65812	1.0:0.0:0.0:0.0	.	78	A2A2V5	SRTM1_HUMAN	V	78	.	ENSP00000325776:E78V	E	+	2	0	SERTM1	36167448	1.000000	0.71417	0.902000	0.35471	0.985000	0.73830	8.479000	0.90431	1.942000	0.56320	0.455000	0.32223	GAG		PASS	0.453	SERTM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044518.2	NM_203451		12	207	12	207	---	---	---	---
ENOX1	55068	broad.mit.edu	37	13	43934113	43934113	+	Missense_Mutation	SNP	C	C	T			TCGA-34-2608-01A-02D-1522-08	TCGA-34-2608-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3c90209b-b6f6-40b2-a374-6cd37d6d3895	ca1f5f6f-bef8-49af-8bd0-c8beb0c4c53b	g.chr13:43934113C>T	ENST00000261488.6	-	7	1040	c.463G>A	c.(463-465)Gag>Aag	p.E155K	ENOX1_ENST00000412891.1_Missense_Mutation_p.E155K|ENOX1_ENST00000482207.1_5'UTR|ENOX1_ENST00000540032.1_5'UTR	NM_001242863.1|NM_017993.3	NP_001229792.1|NP_060463.2	Q8TC92	ENOX1_HUMAN	ecto-NOX disulfide-thiol exchanger 1	155	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.				rhythmic process (GO:0048511)	extracellular region (GO:0005576)|plasma membrane (GO:0005886)	nucleic acid binding (GO:0003676)|nucleotide binding (GO:0000166)|oxidoreductase activity (GO:0016491)	p.E155K(2)		breast(1)|endometrium(3)|large_intestine(7)|lung(18)|pancreas(2)|prostate(1)|skin(1)|urinary_tract(1)	34		Lung NSC(96;0.000518)|Prostate(109;0.0233)|Hepatocellular(98;0.0268)|Lung SC(185;0.0367)|Breast(139;0.0406)		GBM - Glioblastoma multiforme(144;0.00333)|BRCA - Breast invasive adenocarcinoma(63;0.172)		ATAATTTCCTCAGTAGCATTT	0.403																																						uc001uza.3																			2	Substitution - Missense(2)		lung(2)	pancreas(1)|skin(1)	2						c.(463-465)GAG>AAG		ecto-NOX disulfide-thiol exchanger 1							95.0	89.0	91.0					13																	43934113		2203	4300	6503	SO:0001583	missense	55068				electron transport chain|rhythmic process|transport	extracellular space|plasma membrane	nucleic acid binding|nucleotide binding|oxidoreductase activity	g.chr13:43934113C>T	EF432052	CCDS9389.1	13q14.11	2013-02-12			ENSG00000120658	ENSG00000120658		"""RNA binding motif (RRM) containing"""	25474	protein-coding gene	gene with protein product		610914				11360993	Standard	NM_001127615		Approved	FLJ10094, PIG38, CNOX, cCNOX	uc001uza.4	Q8TC92	OTTHUMG00000016818	ENST00000261488.6:c.463G>A	13.37:g.43934113C>T	ENSP00000261488:p.Glu155Lys					ENOX1_uc001uzb.3_Missense_Mutation_p.E155K|ENOX1_uc001uzc.3_Missense_Mutation_p.E155K|ENOX1_uc010tfm.1_5'UTR	p.E155K	NM_001127615	NP_001121087	Q8TC92	ENOX1_HUMAN		GBM - Glioblastoma multiforme(144;0.00333)|BRCA - Breast invasive adenocarcinoma(63;0.172)	7	763	-		Lung NSC(96;0.000518)|Prostate(109;0.0233)|Hepatocellular(98;0.0268)|Lung SC(185;0.0367)|Breast(139;0.0406)	155			RRM.		A4GU15|A6NMH9|B7Z5K1|Q2TU81|Q5VT11|Q9NWE0	Missense_Mutation	SNP	ENST00000261488.6	37	c.463G>A	CCDS9389.1	.	.	.	.	.	.	.	.	.	.	C	32	5.184573	0.94885	.	.	ENSG00000120658	ENST00000261488;ENST00000412891	T;T	0.79554	-1.28;-1.28	5.89	5.89	0.94794	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	D	0.90407	0.6997	M	0.77103	2.36	0.80722	D	1	D	0.69078	0.997	D	0.79108	0.992	D	0.90566	0.4519	10	0.87932	D	0	-10.1252	20.248	0.98401	0.0:1.0:0.0:0.0	.	155	Q8TC92	ENOX1_HUMAN	K	155	ENSP00000261488:E155K;ENSP00000415054:E155K	ENSP00000261488:E155K	E	-	1	0	ENOX1	42832113	1.000000	0.71417	0.966000	0.40874	0.894000	0.52154	7.440000	0.80464	2.790000	0.95986	0.655000	0.94253	GAG		PASS	0.403	ENOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044717.2	NM_017993		6	160	6	160	---	---	---	---
PCDH17	27253	broad.mit.edu	37	13	58209085	58209085	+	Missense_Mutation	SNP	C	C	A			TCGA-34-2608-01A-02D-1522-08	TCGA-34-2608-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3c90209b-b6f6-40b2-a374-6cd37d6d3895	ca1f5f6f-bef8-49af-8bd0-c8beb0c4c53b	g.chr13:58209085C>A	ENST00000377918.3	+	1	2431	c.2405C>A	c.(2404-2406)aCc>aAc	p.T802N		NM_001040429.2	NP_001035519.1	O14917	PCD17_HUMAN	protocadherin 17	802					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.T802N(1)		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)		GACTACCAGACCCGCCTGCCC	0.642																																					Melanoma(72;952 1291 1619 12849 33676)	uc001vhq.1																			1	Substitution - Missense(1)		lung(1)	ovary(3)|pancreas(2)|upper_aerodigestive_tract(1)|skin(1)	7						c.(2404-2406)ACC>AAC		protocadherin 17 precursor							49.0	50.0	49.0					13																	58209085		2202	4300	6502	SO:0001583	missense	27253				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding|protein binding	g.chr13:58209085C>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.2405C>A	13.37:g.58209085C>A	ENSP00000367151:p.Thr802Asn					PCDH17_uc010aec.1_Missense_Mutation_p.T802N	p.T802N	NM_001040429	NP_001035519	O14917	PCD17_HUMAN		GBM - Glioblastoma multiforme(99;1.06e-05)	1	3297	+		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)	802			Cytoplasmic (Potential).		A8K1R5|Q5VVW9|Q5VVX0	Missense_Mutation	SNP	ENST00000377918.3	37	c.2405C>A	CCDS31986.1	.	.	.	.	.	.	.	.	.	.	C	14.55	2.567841	0.45798	.	.	ENSG00000118946	ENST00000377918	T	0.50813	0.73	5.79	5.79	0.91817	.	0.000000	0.85682	D	0.000000	T	0.46405	0.1391	L	0.36672	1.1	0.54753	D	0.999983	B;B	0.31705	0.336;0.227	B;B	0.38225	0.268;0.065	T	0.23476	-1.0187	9	.	.	.	.	20.0349	0.97554	0.0:1.0:0.0:0.0	.	802;802	O14917-2;O14917	.;PCD17_HUMAN	N	802	ENSP00000367151:T802N	.	T	+	2	0	PCDH17	57107086	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.042000	0.70996	2.735000	0.93741	0.591000	0.81541	ACC		PASS	0.642	PCDH17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045139.1	NM_001040429		3	27	3	27	---	---	---	---
DIAPH3	81624	broad.mit.edu	37	13	60590068	60590068	+	Silent	SNP	T	T	C			TCGA-34-2608-01A-02D-1522-08	TCGA-34-2608-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3c90209b-b6f6-40b2-a374-6cd37d6d3895	ca1f5f6f-bef8-49af-8bd0-c8beb0c4c53b	g.chr13:60590068T>C	ENST00000400324.4	-	7	970	c.750A>G	c.(748-750)ctA>ctG	p.L250L	DIAPH3-AS1_ENST00000422052.1_RNA|DIAPH3_ENST00000465066.1_5'Flank|DIAPH3_ENST00000377908.2_Silent_p.L239L|DIAPH3_ENST00000400319.1_Silent_p.L180L|DIAPH3-AS1_ENST00000435636.1_RNA|DIAPH3_ENST00000267215.4_Silent_p.L250L|DIAPH3_ENST00000400320.1_Silent_p.L204L|DIAPH3_ENST00000400330.1_Silent_p.L250L|DIAPH3-AS1_ENST00000432995.1_RNA	NM_001042517.1|NM_001258366.1	NP_001035982.1|NP_001245295.1	Q9NSV4	DIAP3_HUMAN	diaphanous-related formin 3	250	GBD/FH3. {ECO:0000255|PROSITE- ProRule:PRU00579}.				actin cytoskeleton organization (GO:0030036)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)		p.L250L(1)		cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|liver(1)|lung(20)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46		Breast(118;0.052)|Prostate(109;0.103)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;2.77e-05)		TCAGGGCTTTTAGACACTGTA	0.308																																						uc001vht.2																			1	Substitution - coding silent(1)		lung(1)	ovary(2)	2						c.(748-750)CTA>CTG		diaphanous homolog 3 isoform a							193.0	169.0	176.0					13																	60590068		1838	4084	5922	SO:0001819	synonymous_variant	81624				actin cytoskeleton organization		actin binding|Rho GTPase binding	g.chr13:60590068T>C	AL137718	CCDS41898.1, CCDS58294.1, CCDS58295.1, CCDS58296.1, CCDS58297.1, CCDS73579.1, CCDS73580.1	13q21.2	2013-05-24	2013-05-24		ENSG00000139734	ENSG00000139734			15480	protein-coding gene	gene with protein product		614567	"""diaphanous (Drosophila, homolog) 3"", ""auditory neuropathy, autosomal dominant 1"", ""diaphanous homolog 3 (Drosophila)"""	AUNA1		14767582, 20624953	Standard	NM_030932		Approved	DRF3, FLJ34705, AN, NSDAN	uc001vht.4	Q9NSV4	OTTHUMG00000017004	ENST00000400324.4:c.750A>G	13.37:g.60590068T>C						DIAPH3_uc001vhu.2_5'Flank|DIAPH3_uc001vhw.1_Silent_p.L239L|DIAPH3_uc010aed.1_Silent_p.L204L|DIAPH3_uc010aee.1_Silent_p.L180L|uc001vhx.2_Intron|uc001vhy.2_Intron	p.L250L	NM_001042517	NP_001035982	Q9NSV4	DIAP3_HUMAN		GBM - Glioblastoma multiforme(99;2.77e-05)	7	969	-		Breast(118;0.052)|Prostate(109;0.103)|Hepatocellular(98;0.132)	250			GBD/FH3.		A2A3B8|A2A3B9|A2A3C0|Q18P99|Q18PA0|Q18PA1|Q2KPB6|Q3ZK23|Q5JTP8|Q5T2S7|Q5XKF6|Q6MZF0|Q6NUP0|Q86VS4|Q8NAV4	Silent	SNP	ENST00000400324.4	37	c.750A>G	CCDS41898.1																																																																																				PASS	0.308	DIAPH3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000045166.3	NM_001042517		4	93	4	93	---	---	---	---
SLC39A2	29986	broad.mit.edu	37	14	21469520	21469520	+	Missense_Mutation	SNP	G	G	T			TCGA-34-2608-01A-02D-1522-08	TCGA-34-2608-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3c90209b-b6f6-40b2-a374-6cd37d6d3895	ca1f5f6f-bef8-49af-8bd0-c8beb0c4c53b	g.chr14:21469520G>T	ENST00000298681.4	+	4	869	c.712G>T	c.(712-714)Ggc>Tgc	p.G238C	RP11-84C10.4_ENST00000557335.1_RNA|SLC39A2_ENST00000554422.1_3'UTR	NM_014579.3	NP_055394.2	Q9NP94	S39A2_HUMAN	solute carrier family 39 (zinc transporter), member 2	238					transmembrane transport (GO:0055085)|zinc ion transmembrane transport (GO:0071577)|zinc ion transport (GO:0006829)	cytoplasmic membrane-bounded vesicle (GO:0016023)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	zinc ion transmembrane transporter activity (GO:0005385)	p.G238C(1)		breast(2)|central_nervous_system(1)|large_intestine(4)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	14	all_cancers(95;0.00267)		OV - Ovarian serous cystadenocarcinoma(11;1.34e-10)|Epithelial(56;1.57e-08)|all cancers(55;7.45e-08)	GBM - Glioblastoma multiforme(265;0.0187)		GTCCCCCCTGGGCCTAGCCGT	0.567																																						uc001vyr.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)|central_nervous_system(1)	3						c.(712-714)GGC>TGC		solute carrier family 39 (zinc transporter),							101.0	96.0	98.0					14																	21469520		2203	4300	6503	SO:0001583	missense	29986					cytoplasmic membrane-bounded vesicle|integral to plasma membrane	zinc ion transmembrane transporter activity	g.chr14:21469520G>T	AF186081	CCDS9563.1, CCDS58303.1	14q11.1	2013-05-22			ENSG00000165794	ENSG00000165794		"""Solute carriers"""	17127	protein-coding gene	gene with protein product		612166				10681536, 7751801	Standard	NM_014579		Approved	ZIP2	uc001vyr.3	Q9NP94	OTTHUMG00000029616	ENST00000298681.4:c.712G>T	14.37:g.21469520G>T	ENSP00000298681:p.Gly238Cys					SLC39A2_uc001vys.2_Missense_Mutation_p.G139C	p.G238C	NM_014579	NP_055394	Q9NP94	S39A2_HUMAN	OV - Ovarian serous cystadenocarcinoma(11;1.34e-10)|Epithelial(56;1.57e-08)|all cancers(55;7.45e-08)	GBM - Glioblastoma multiforme(265;0.0187)	4	899	+	all_cancers(95;0.00267)		238			Helical; (Potential).		B2RC76|G3V5X2|Q4QQJ1|Q4V9S4|Q96JT6|Q9UD20	Missense_Mutation	SNP	ENST00000298681.4	37	c.712G>T	CCDS9563.1	.	.	.	.	.	.	.	.	.	.	G	17.22	3.333020	0.60853	.	.	ENSG00000165794	ENST00000298681	T	0.75154	-0.91	5.8	5.8	0.92144	.	0.000000	0.85682	D	0.000000	D	0.89681	0.6785	M	0.92833	3.35	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.91577	0.5276	10	0.87932	D	0	-10.7059	17.5644	0.87916	0.0:0.0:1.0:0.0	.	238	Q9NP94	S39A2_HUMAN	C	238	ENSP00000298681:G238C	ENSP00000298681:G238C	G	+	1	0	SLC39A2	20539360	1.000000	0.71417	0.353000	0.25747	0.117000	0.20001	8.956000	0.93066	2.744000	0.94065	0.655000	0.94253	GGC		PASS	0.567	SLC39A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073829.2	NM_014579		26	144	26	144	---	---	---	---
FUT8	2530	broad.mit.edu	37	14	66028290	66028290	+	Silent	SNP	A	A	G			TCGA-34-2608-01A-02D-1522-08	TCGA-34-2608-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3c90209b-b6f6-40b2-a374-6cd37d6d3895	ca1f5f6f-bef8-49af-8bd0-c8beb0c4c53b	g.chr14:66028290A>G	ENST00000360689.5	+	3	1736	c.9A>G	c.(7-9)ccA>ccG	p.P3P	FUT8_ENST00000358307.2_Intron|FUT8_ENST00000557164.1_Intron|FUT8_ENST00000394586.2_Silent_p.P3P|FUT8_ENST00000394585.1_Silent_p.P3P	NM_004480.4|NM_178155.2	NP_004471.4|NP_835368.1	Q9BYC5	FUT8_HUMAN	fucosyltransferase 8 (alpha (1,6) fucosyltransferase)	3					cell migration (GO:0016477)|cellular protein metabolic process (GO:0044267)|GDP-L-fucose metabolic process (GO:0046368)|in utero embryonic development (GO:0001701)|integrin-mediated signaling pathway (GO:0007229)|L-fucose catabolic process (GO:0042355)|N-glycan fucosylation (GO:0036071)|N-glycan processing (GO:0006491)|oligosaccharide biosynthetic process (GO:0009312)|post-translational protein modification (GO:0043687)|protein glycosylation in Golgi (GO:0033578)|protein N-linked glycosylation (GO:0006487)|protein N-linked glycosylation via asparagine (GO:0018279)|receptor metabolic process (GO:0043112)|respiratory gaseous exchange (GO:0007585)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi cisterna membrane (GO:0032580)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	glycoprotein 6-alpha-L-fucosyltransferase activity (GO:0008424)	p.P3P(2)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(12)|ovary(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(2)	22				all cancers(60;0.00109)|OV - Ovarian serous cystadenocarcinoma(108;0.00242)|BRCA - Breast invasive adenocarcinoma(234;0.0114)		AAATGCGGCCATGGACTGGTT	0.443																																						uc001xin.2																			2	Substitution - coding silent(2)		lung(2)	ovary(1)	1						c.(7-9)CCA>CCG		fucosyltransferase 8 isoform a							157.0	151.0	153.0					14																	66028290		2203	4300	6503	SO:0001819	synonymous_variant	2530				in utero embryonic development|L-fucose catabolic process|N-glycan processing|oligosaccharide biosynthetic process|post-translational protein modification|protein glycosylation in Golgi|protein N-linked glycosylation via asparagine	Golgi cisterna membrane|integral to membrane	glycoprotein 6-alpha-L-fucosyltransferase activity|SH3 domain binding	g.chr14:66028290A>G	AB049740	CCDS9775.1, CCDS9776.1, CCDS9776.2	14q24.3	2013-02-26			ENSG00000033170	ENSG00000033170		"""Fucosyltransferases"""	4019	protein-coding gene	gene with protein product		602589				9368041	Standard	NM_178155		Approved		uc001xio.3	Q9BYC5	OTTHUMG00000142818	ENST00000360689.5:c.9A>G	14.37:g.66028290A>G						FUT8_uc001xio.2_Silent_p.P3P|FUT8_uc010tsp.1_Intron|FUT8_uc001xir.3_RNA|FUT8_uc001xip.2_Silent_p.P3P|FUT8_uc001xiq.2_Intron	p.P3P	NM_178155	NP_835368	Q9BYC5	FUT8_HUMAN		all cancers(60;0.00109)|OV - Ovarian serous cystadenocarcinoma(108;0.00242)|BRCA - Breast invasive adenocarcinoma(234;0.0114)	3	1206	+			3			Cytoplasmic (Potential).		B4DFS7|G3V5N0|O00235|Q8IUA5|Q9BYC6|Q9P2U5|Q9P2U6	Silent	SNP	ENST00000360689.5	37	c.9A>G	CCDS9775.1																																																																																				PASS	0.443	FUT8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286406.1	NM_004480		31	245	31	245	---	---	---	---
ZNF410	57862	broad.mit.edu	37	14	74390097	74390097	+	Splice_Site	SNP	G	G	C			TCGA-34-2608-01A-02D-1522-08	TCGA-34-2608-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3c90209b-b6f6-40b2-a374-6cd37d6d3895	ca1f5f6f-bef8-49af-8bd0-c8beb0c4c53b	g.chr14:74390097G>C	ENST00000555044.1	+	11	1464		c.e11-1		ZNF410_ENST00000540593.1_Splice_Site|ZNF410_ENST00000442160.3_Splice_Site|RP5-1021I20.5_ENST00000555916.1_RNA|ZNF410_ENST00000334521.4_Splice_Site|ZNF410_ENST00000324593.6_Splice_Site|RP5-1021I20.5_ENST00000554009.1_RNA|RP5-1021I20.4_ENST00000556551.2_Splice_Site	NM_001242928.1|NM_021188.2	NP_001229857.1|NP_067011.1	Q86VK4	ZN410_HUMAN	zinc finger protein 410						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.?(1)		breast(1)|endometrium(1)|large_intestine(3)|lung(5)|prostate(1)|skin(1)|urinary_tract(1)	13				BRCA - Breast invasive adenocarcinoma(234;0.00369)		TTGCTTCACAGAGGTGCTTGC	0.438																																						uc001xoz.1																			1	Unknown(1)		lung(1)	skin(1)	1						c.e11-1		zinc finger protein 410							108.0	90.0	96.0					14																	74390097		2203	4300	6503	SO:0001630	splice_region_variant	57862				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr14:74390097G>C	U90919	CCDS9821.1, CCDS55929.1, CCDS55930.1, CCDS55931.1	14q24.3	2013-01-08				ENSG00000119725		"""Zinc fingers, C2H2-type"""	20144	protein-coding gene	gene with protein product						12370286	Standard	NM_001242924		Approved	APA1, APA-1	uc010arz.2	Q86VK4		ENST00000555044.1:c.1271-1G>C	14.37:g.74390097G>C						ZNF410_uc001xoy.1_Splice_Site|ZNF410_uc010tuf.1_Splice_Site|ZNF410_uc010tug.1_Splice_Site_p.E155_splice|ZNF410_uc010tuh.1_Splice_Site_p.E351_splice|ZNF410_uc010tui.1_Splice_Site|ZNF410_uc010arz.1_Splice_Site_p.E441_splice|ZNF410_uc001xpa.1_Splice_Site_p.E228_splice|ZNF410_uc001xpb.1_Splice_Site_p.E377_splice|ZNF410_uc001xpc.1_Splice_Site_p.E371_splice|ZNF410_uc010tuj.1_Splice_Site_p.E228_splice	p.E424_splice	NM_021188	NP_067011	Q86VK4	ZN410_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00369)	11	1453	+								B4DDV5|B4DR78|O00153|Q9BQ19	Splice_Site	SNP	ENST00000555044.1	37	c.1271_splice	CCDS9821.1	.	.	.	.	.	.	.	.	.	.	G	19.59	3.855770	0.71834	.	.	ENSG00000119725	ENST00000540593;ENST00000324593;ENST00000458102;ENST00000442160;ENST00000555044;ENST00000334521;ENST00000556179;ENST00000557214	.	.	.	5.97	5.97	0.96955	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.3303	0.87261	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	ZNF410	73459850	1.000000	0.71417	1.000000	0.80357	0.943000	0.58893	5.239000	0.65371	2.835000	0.97688	0.591000	0.81541	.		PASS	0.438	ZNF410-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412597.1	NM_021188	Intron	10	147	10	147	---	---	---	---
LRRC74A	145497	broad.mit.edu	37	14	77302627	77302627	+	Missense_Mutation	SNP	G	G	A			TCGA-34-2608-01A-02D-1522-08	TCGA-34-2608-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3c90209b-b6f6-40b2-a374-6cd37d6d3895	ca1f5f6f-bef8-49af-8bd0-c8beb0c4c53b	g.chr14:77302627G>A	ENST00000393774.3	+	4	592	c.468G>A	c.(466-468)atG>atA	p.M156I	C14orf166B_ENST00000460005.1_3'UTR|C14orf166B_ENST00000450042.2_Missense_Mutation_p.M139I	NM_194287.2	NP_919263.2												p.M156I(1)		breast(1)|kidney(2)|large_intestine(3)|lung(9)|prostate(2)|skin(1)	18			Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0306)		TGGTGGAGATGCTACAAGAGA	0.552																																					Ovarian(165;1056 1958 32571 36789 48728)	uc001xsx.2																			1	Substitution - Missense(1)		lung(1)		0						c.(466-468)ATG>ATA		hypothetical protein LOC145497							173.0	126.0	142.0					14																	77302627		2203	4300	6503	SO:0001583	missense	145497							g.chr14:77302627G>A																												ENST00000393774.3:c.468G>A	14.37:g.77302627G>A	ENSP00000377369:p.Met156Ile					C14orf166B_uc010asn.1_5'UTR|C14orf166B_uc001xsw.2_RNA|C14orf166B_uc010aso.1_RNA|C14orf166B_uc010tvg.1_RNA|C14orf166B_uc010tvh.1_RNA	p.M156I	NM_194287	NP_919263	Q0VAA2	CN16B_HUMAN	Kidney(204;0.164)	BRCA - Breast invasive adenocarcinoma(234;0.0306)	4	582	+			156						Missense_Mutation	SNP	ENST00000393774.3	37	c.468G>A	CCDS9853.2	.	.	.	.	.	.	.	.	.	.	G	27.4	4.825885	0.90955	.	.	ENSG00000100565	ENST00000393774;ENST00000450042	T;T	0.51325	0.71;2.35	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	T	0.69360	0.3102	M	0.75447	2.3	0.80722	D	1	D	0.76494	0.999	D	0.75020	0.985	T	0.68334	-0.5436	10	0.49607	T	0.09	.	18.1155	0.89553	0.0:0.0:1.0:0.0	.	156	Q0VAA2	CN16B_HUMAN	I	156;139	ENSP00000377369:M156I;ENSP00000396260:M139I	ENSP00000216450:M156I	M	+	3	0	C14orf166B	76372380	1.000000	0.71417	1.000000	0.80357	0.912000	0.54170	8.215000	0.89762	2.880000	0.98712	0.650000	0.86243	ATG		PASS	0.552	C14orf166B-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316592.1			10	43	10	43	---	---	---	---
MIR487A	619555	broad.mit.edu	37	14	101521650	101521650	+	RNA	SNP	G	G	A			TCGA-34-2608-01A-02D-1522-08	TCGA-34-2608-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3c90209b-b6f6-40b2-a374-6cd37d6d3895	ca1f5f6f-bef8-49af-8bd0-c8beb0c4c53b	g.chr14:101521650G>A	ENST00000384827.1	+	0	80				MIR134_ENST00000385258.2_RNA|MIR323B_ENST00000385269.2_RNA|MIR485_ENST00000385292.2_RNA|MIR382_ENST00000385009.2_RNA	NR_030162.1				microRNA 487a																		CACTCGGCTCGGCCCACTACC	0.562																																						hsa-mir-668|MI0003761																			0					0															107.0	97.0	100.0					14																	101521650		1568	3582	5150			768214							g.chr14:101521650G>A			14q32.31	2011-09-12	2006-02-23	2008-12-18	ENSG00000207558	ENSG00000207558		"""ncRNAs / Micro RNAs"""	32343	non-coding RNA	RNA, micro			"""microRNA 487"""	MIRN487, MIRN487A			Standard	NR_030162		Approved	hsa-mir-487, hsa-mir-487a	uc021sdk.1				14.37:g.101521650G>A						MIR485_hsa-mir-485|MI0002469_5'Flank|hsa-mir-323b|MI0014206_5'Flank										+									RNA	SNP	ENST00000384827.1	37	c.56G>A																																																																																					PASS	0.562	MIR487A-201	KNOWN	basic	miRNA	miRNA		NR_030162		9	111	9	111	---	---	---	---
KIF26A	26153	broad.mit.edu	37	14	104641909	104641909	+	Silent	SNP	C	C	T			TCGA-34-2608-01A-02D-1522-08	TCGA-34-2608-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3c90209b-b6f6-40b2-a374-6cd37d6d3895	ca1f5f6f-bef8-49af-8bd0-c8beb0c4c53b	g.chr14:104641909C>T	ENST00000423312.2	+	12	2784	c.2784C>T	c.(2782-2784)agC>agT	p.S928S	KIF26A_ENST00000315264.7_Silent_p.S789S	NM_015656.1	NP_056471.1	Q9ULI4	KI26A_HUMAN	kinesin family member 26A	928					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|blood coagulation (GO:0007596)|enteric nervous system development (GO:0048484)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|negative regulation of signal transduction (GO:0009968)|regulation of cell growth by extracellular stimulus (GO:0001560)	cytosol (GO:0005829)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule binding (GO:0008017)|microtubule motor activity (GO:0003777)	p.S928S(1)		autonomic_ganglia(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	21		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0767)	Epithelial(46;0.152)	Epithelial(152;0.161)		AGGACAGCAGCGCTTGGCCTG	0.657																																						uc001yos.3																			1	Substitution - coding silent(1)		lung(1)	pancreas(1)	1						c.(2782-2784)AGC>AGT		kinesin family member 26A							14.0	17.0	16.0					14																	104641909		1986	4130	6116	SO:0001819	synonymous_variant	26153				blood coagulation|enteric nervous system development|microtubule-based movement|negative regulation of signal transduction|regulation of cell growth by extracellular stimulus	cytosol|microtubule	ATP binding|microtubule binding|microtubule motor activity	g.chr14:104641909C>T	AB033062	CCDS45171.1	14q32.33	2009-03-19			ENSG00000066735	ENSG00000066735		"""Kinesins"""	20226	protein-coding gene	gene with protein product		613231				10574462, 11416179	Standard	NM_015656		Approved	KIAA1236, DKFZP434N178	uc001yos.4	Q9ULI4	OTTHUMG00000154986	ENST00000423312.2:c.2784C>T	14.37:g.104641909C>T							p.S928S	NM_015656	NP_056471	Q9ULI4	KI26A_HUMAN	Epithelial(46;0.152)	Epithelial(152;0.161)	12	2784	+		all_cancers(154;0.109)|Melanoma(154;0.0525)|all_epithelial(191;0.0767)	928					Q8TAZ7|Q96GK3|Q9UFL3	Silent	SNP	ENST00000423312.2	37	c.2784C>T	CCDS45171.1																																																																																				PASS	0.657	KIF26A-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414356.1			7	34	7	34	---	---	---	---
RYR3	6263	broad.mit.edu	37	15	33993204	33993204	+	Missense_Mutation	SNP	C	C	A			TCGA-34-2608-01A-02D-1522-08	TCGA-34-2608-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3c90209b-b6f6-40b2-a374-6cd37d6d3895	ca1f5f6f-bef8-49af-8bd0-c8beb0c4c53b	g.chr15:33993204C>A	ENST00000389232.4	+	42	6476	c.6406C>A	c.(6406-6408)Ccg>Acg	p.P2136T	RYR3_ENST00000415757.3_Missense_Mutation_p.P2136T	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	2136	4 X approximate repeats.				calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cellular response to ATP (GO:0071318)|cellular response to caffeine (GO:0071313)|cellular response to calcium ion (GO:0071277)|cellular response to magnesium ion (GO:0071286)|ion transmembrane transport (GO:0034220)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|protein homotetramerization (GO:0051289)|striated muscle contraction (GO:0006941)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|ryanodine-sensitive calcium-release channel activity (GO:0005219)	p.P2136T(1)		NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		GGGATCCACCCCGCTGGATGT	0.572											OREG0023030	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										uc001zhi.2																			1	Substitution - Missense(1)		lung(1)	ovary(5)|central_nervous_system(4)|lung(1)	10						c.(6406-6408)CCG>ACG		ryanodine receptor 3							41.0	45.0	43.0					15																	33993204		2023	4176	6199	SO:0001583	missense	6263				cellular calcium ion homeostasis	integral to membrane	calcium ion binding|receptor activity|ryanodine-sensitive calcium-release channel activity	g.chr15:33993204C>A		CCDS45210.1, CCDS58351.1	15q14-q15	2013-01-10				ENSG00000198838		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10485	protein-coding gene	gene with protein product		180903				8276408	Standard	NM_001036		Approved		uc001zhi.3	Q15413		ENST00000389232.4:c.6406C>A	15.37:g.33993204C>A	ENSP00000373884:p.Pro2136Thr		OREG0023030	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	844	RYR3_uc010bar.2_Missense_Mutation_p.P2136T	p.P2136T	NM_001036	NP_001027	Q15413	RYR3_HUMAN		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)	42	6476	+		all_lung(180;7.18e-09)	2136			4 X approximate repeats.|Cytoplasmic (By similarity).		O15175|Q15412	Missense_Mutation	SNP	ENST00000389232.4	37	c.6406C>A	CCDS45210.1	.	.	.	.	.	.	.	.	.	.	C	17.54	3.413921	0.62511	.	.	ENSG00000198838	ENST00000389232;ENST00000415757;ENST00000361728	D;D	0.95482	-3.72;-3.72	4.7	4.7	0.59300	Intracellular calcium-release channel (1);	0.064897	0.64402	D	0.000006	D	0.97486	0.9177	M	0.79258	2.445	0.80722	D	1	D;B	0.67145	0.996;0.037	D;B	0.68621	0.959;0.099	D	0.98122	1.0426	10	0.87932	D	0	.	18.1647	0.89721	0.0:1.0:0.0:0.0	.	2136;2136	Q15413-2;Q15413	.;RYR3_HUMAN	T	2136	ENSP00000373884:P2136T;ENSP00000399610:P2136T	ENSP00000354735:P2136T	P	+	1	0	RYR3	31780496	1.000000	0.71417	0.949000	0.38748	0.774000	0.43823	7.573000	0.82421	2.599000	0.87857	0.561000	0.74099	CCG		PASS	0.572	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417514.1			3	13	3	13	---	---	---	---
SLC12A6	9990	broad.mit.edu	37	15	34531356	34531356	+	Missense_Mutation	SNP	T	T	C			TCGA-34-2608-01A-02D-1522-08	TCGA-34-2608-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3c90209b-b6f6-40b2-a374-6cd37d6d3895	ca1f5f6f-bef8-49af-8bd0-c8beb0c4c53b	g.chr15:34531356T>C	ENST00000354181.3	-	20	2934	c.2442A>G	c.(2440-2442)atA>atG	p.I814M	SLC12A6_ENST00000558667.1_Missense_Mutation_p.I814M|SLC12A6_ENST00000560164.1_Missense_Mutation_p.I626M|SLC12A6_ENST00000397702.2_Missense_Mutation_p.I755M|SLC12A6_ENST00000458406.2_Missense_Mutation_p.I755M|SLC12A6_ENST00000558589.1_Missense_Mutation_p.I805M|SLC12A6_ENST00000560611.1_Missense_Mutation_p.I814M|SLC12A6_ENST00000451844.2_Missense_Mutation_p.I626M|SLC12A6_ENST00000290209.5_Missense_Mutation_p.I763M|SLC12A6_ENST00000397707.2_Missense_Mutation_p.I799M			Q9UHW9	S12A6_HUMAN	solute carrier family 12 (potassium/chloride transporter), member 6	814					angiogenesis (GO:0001525)|cellular hypotonic response (GO:0071476)|cellular hypotonic salinity response (GO:0071477)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transport (GO:0006811)|potassium ion import (GO:0010107)|potassium ion transport (GO:0006813)|rubidium ion transport (GO:0035826)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	potassium ion transmembrane transporter activity (GO:0015079)|potassium:chloride symporter activity (GO:0015379)|protein kinase binding (GO:0019901)|rubidium ion transmembrane transporter activity (GO:0035827)	p.I805M(1)|p.I763M(1)		central_nervous_system(5)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(8)|lung(17)|ovary(4)|skin(3)	45		all_lung(180;2.78e-08)		all cancers(64;3.43e-17)|GBM - Glioblastoma multiforme(113;2.6e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0301)	Potassium Chloride(DB00761)	TTAGGTGCTTTATGGTCTGAA	0.498																																						uc001zhw.2																			2	Substitution - Missense(2)		lung(2)	central_nervous_system(5)|ovary(1)|skin(1)	7						c.(2440-2442)ATA>ATG		solute carrier family 12, member 6 isoform a	Potassium Chloride(DB00761)						103.0	98.0	100.0					15																	34531356		2201	4298	6499	SO:0001583	missense	9990				angiogenesis|cellular hypotonic salinity response|potassium ion transport|sodium ion transport	basolateral plasma membrane|integral to membrane	potassium:chloride symporter activity	g.chr15:34531356T>C	AF108831	CCDS10036.1, CCDS42010.1, CCDS42011.1, CCDS42012.1, CCDS58352.1	15q13	2014-09-17	2013-07-18		ENSG00000140199	ENSG00000140199		"""Solute carriers"""	10914	protein-coding gene	gene with protein product		604878	"""agenesis of corpus callosum and peripheral neuropathy (Andermann syndrome)"""	KCC3, ACCPN		10187864, 10347194	Standard	NM_133647		Approved		uc001zhw.3	Q9UHW9	OTTHUMG00000129441	ENST00000354181.3:c.2442A>G	15.37:g.34531356T>C	ENSP00000346112:p.Ile814Met					SLC12A6_uc001zhv.2_Missense_Mutation_p.I763M|SLC12A6_uc001zhx.2_Missense_Mutation_p.I799M|SLC12A6_uc001zhy.2_RNA|SLC12A6_uc001zhz.2_RNA|SLC12A6_uc001zia.2_Missense_Mutation_p.I755M|SLC12A6_uc001zib.2_Missense_Mutation_p.I805M|SLC12A6_uc001zic.2_Missense_Mutation_p.I814M|SLC12A6_uc010bau.2_Missense_Mutation_p.I814M|SLC12A6_uc001zid.2_Missense_Mutation_p.I755M|SLC12A6_uc001zht.2_RNA|SLC12A6_uc001zhu.2_Missense_Mutation_p.I626M	p.I814M	NM_133647	NP_598408	Q9UHW9	S12A6_HUMAN		all cancers(64;3.43e-17)|GBM - Glioblastoma multiforme(113;2.6e-07)|BRCA - Breast invasive adenocarcinoma(123;0.0301)	19	2606	-		all_lung(180;2.78e-08)	814					A0AV76|Q2VI00|Q7Z2E7|Q7Z4G5|Q8TDD4|Q9UFR2|Q9Y642|Q9Y665	Missense_Mutation	SNP	ENST00000354181.3	37	c.2442A>G	CCDS58352.1	.	.	.	.	.	.	.	.	.	.	T	12.71	2.019716	0.35606	.	.	ENSG00000140199	ENST00000290209;ENST00000397707;ENST00000354181;ENST00000397702;ENST00000458406;ENST00000451844	D;D;D;D;D	0.93547	-3.24;-3.24;-3.24;-3.24;-3.24	4.97	1.21	0.21127	.	0.198728	0.44688	D	0.000438	D	0.86686	0.5992	L	0.56396	1.775	0.37920	D	0.93164	B;P;B;B	0.43973	0.168;0.823;0.428;0.26	B;B;B;B	0.35813	0.098;0.211;0.101;0.103	T	0.80425	-0.1388	10	0.35671	T	0.21	.	2.1815	0.03876	0.1468:0.0971:0.1746:0.5815	.	799;814;763;626	Q9UHW9-3;Q9UHW9;A0AV76;B3KXX3	.;S12A6_HUMAN;.;.	M	763;799;805;755;755;626	ENSP00000290209:I763M;ENSP00000380819:I799M;ENSP00000380814:I755M;ENSP00000387725:I755M;ENSP00000390199:I626M	ENSP00000290209:I763M	I	-	3	3	SLC12A6	32318648	0.865000	0.29922	0.997000	0.53966	0.992000	0.81027	-0.155000	0.10115	0.357000	0.24183	0.455000	0.32223	ATA		PASS	0.498	SLC12A6-003	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000417991.1	NM_005135		38	237	38	237	---	---	---	---
WDR72	256764	broad.mit.edu	37	15	53907738	53907738	+	Nonsense_Mutation	SNP	C	C	A			TCGA-34-2608-01A-02D-1522-08	TCGA-34-2608-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3c90209b-b6f6-40b2-a374-6cd37d6d3895	ca1f5f6f-bef8-49af-8bd0-c8beb0c4c53b	g.chr15:53907738C>A	ENST00000396328.1	-	15	2904	c.2665G>T	c.(2665-2667)Gaa>Taa	p.E889*	WDR72_ENST00000360509.5_Nonsense_Mutation_p.E889*|WDR72_ENST00000559418.1_Nonsense_Mutation_p.E899*|WDR72_ENST00000557913.1_Nonsense_Mutation_p.E886*	NM_001277176.1|NM_182758.2	NP_001264105.1|NP_877435.3	Q3MJ13	WDR72_HUMAN	WD repeat domain 72	889								p.E889*(1)		NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(18)|lung(29)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	71				all cancers(107;0.0511)		CAATTATTTTCCAATCCTCTT	0.328																																						uc002acj.2																			1	Substitution - Nonsense(1)		lung(1)	lung(1)|skin(1)	2						c.(2665-2667)GAA>TAA		WD repeat domain 72							50.0	52.0	51.0					15																	53907738		2194	4293	6487	SO:0001587	stop_gained	256764							g.chr15:53907738C>A	BX537884	CCDS10151.1, CCDS73730.1	15q21.3	2013-01-09			ENSG00000166415	ENSG00000166415		"""WD repeat domain containing"""	26790	protein-coding gene	gene with protein product		613214					Standard	NM_182758		Approved	FLJ38736	uc002acj.2	Q3MJ13	OTTHUMG00000131939	ENST00000396328.1:c.2665G>T	15.37:g.53907738C>A	ENSP00000379619:p.Glu889*					WDR72_uc010bfi.1_Nonsense_Mutation_p.E889*	p.E889*	NM_182758	NP_877435	Q3MJ13	WDR72_HUMAN		all cancers(107;0.0511)	15	2707	-			889					Q7Z3I3|Q8N8X2	Nonsense_Mutation	SNP	ENST00000396328.1	37	c.2665G>T	CCDS10151.1	.	.	.	.	.	.	.	.	.	.	C	36	5.863878	0.97043	.	.	ENSG00000166415	ENST00000396328;ENST00000360509	.	.	.	5.72	4.81	0.61882	.	0.169094	0.41605	D	0.000841	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.08179	T	0.78	.	13.7513	0.62910	0.0:0.9265:0.0:0.0735	.	.	.	.	X	889	.	ENSP00000353699:E889X	E	-	1	0	WDR72	51695030	0.838000	0.29461	0.102000	0.21198	0.714000	0.41099	2.497000	0.45354	1.430000	0.47334	0.655000	0.94253	GAA		PASS	0.328	WDR72-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254893.2	NM_182758		12	125	12	125	---	---	---	---
TLN2	83660	broad.mit.edu	37	15	63046061	63046061	+	Missense_Mutation	SNP	G	G	T			TCGA-34-2608-01A-02D-1522-08	TCGA-34-2608-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3c90209b-b6f6-40b2-a374-6cd37d6d3895	ca1f5f6f-bef8-49af-8bd0-c8beb0c4c53b	g.chr15:63046061G>T	ENST00000561311.1	+	35	4652	c.4422G>T	c.(4420-4422)caG>caT	p.Q1474H	TLN2_ENST00000306829.6_Missense_Mutation_p.Q1474H			Q9Y4G6	TLN2_HUMAN	talin 2	1474					cell adhesion (GO:0007155)|cell-cell junction assembly (GO:0007043)|cytoskeletal anchoring at plasma membrane (GO:0007016)	actin cytoskeleton (GO:0015629)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|synapse (GO:0045202)	actin binding (GO:0003779)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)	p.Q1474H(1)		NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						GGGCTAACCAGGCCATCCAGA	0.567																																						uc002alb.3																			1	Substitution - Missense(1)		lung(1)	ovary(5)|upper_aerodigestive_tract(2)|lung(2)|breast(2)	11						c.(4420-4422)CAG>CAT		talin 2							83.0	76.0	79.0					15																	63046061		2203	4300	6503	SO:0001583	missense	83660				cell adhesion|cell-cell junction assembly|cytoskeletal anchoring at plasma membrane	actin cytoskeleton|cytoplasm|focal adhesion|ruffle|synapse	actin binding|insulin receptor binding|structural constituent of cytoskeleton	g.chr15:63046061G>T	AB002318	CCDS32261.1	15q15-q21	2008-07-03			ENSG00000171914	ENSG00000171914			15447	protein-coding gene	gene with protein product		607349				9205841, 11527381	Standard	NM_015059		Approved	KIAA0320, ILWEQ	uc002alb.4	Q9Y4G6	OTTHUMG00000133679	ENST00000561311.1:c.4422G>T	15.37:g.63046061G>T	ENSP00000453508:p.Gln1474His					TLN2_uc002alc.3_Translation_Start_Site	p.Q1474H	NM_015059	NP_055874	Q9Y4G6	TLN2_HUMAN			33	4422	+			1474					A6NLB8	Missense_Mutation	SNP	ENST00000561311.1	37	c.4422G>T	CCDS32261.1	.	.	.	.	.	.	.	.	.	.	G	14.71	2.616775	0.46736	.	.	ENSG00000171914	ENST00000306829	T	0.29917	1.55	5.88	3.96	0.45880	.	0.000000	0.85682	D	0.000000	T	0.53174	0.1780	M	0.82823	2.61	0.51482	D	0.99992	D	0.60575	0.988	D	0.74348	0.983	T	0.53627	-0.8412	10	0.66056	D	0.02	-16.9725	7.0312	0.24969	0.3972:0.0:0.6028:0.0	.	1474	Q9Y4G6	TLN2_HUMAN	H	1474	ENSP00000303476:Q1474H	ENSP00000303476:Q1474H	Q	+	3	2	TLN2	60833353	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	1.588000	0.36633	0.767000	0.33267	0.655000	0.94253	CAG		PASS	0.567	TLN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257878.2			17	135	17	135	---	---	---	---
IREB2	3658	broad.mit.edu	37	15	78783002	78783002	+	Silent	SNP	T	T	C			TCGA-34-2608-01A-02D-1522-08	TCGA-34-2608-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3c90209b-b6f6-40b2-a374-6cd37d6d3895	ca1f5f6f-bef8-49af-8bd0-c8beb0c4c53b	g.chr15:78783002T>C	ENST00000258886.8	+	18	2372	c.2223T>C	c.(2221-2223)caT>caC	p.H741H		NM_004136.2	NP_004127	P48200	IREB2_HUMAN	iron-responsive element binding protein 2	741					aging (GO:0007568)|cellular iron ion homeostasis (GO:0006879)|cellular response to hypoxia (GO:0071456)|erythrocyte homeostasis (GO:0034101)|intestinal absorption (GO:0050892)|iron ion transport (GO:0006826)|osteoclast differentiation (GO:0030316)|post-embryonic development (GO:0009791)|protoporphyrinogen IX biosynthetic process (GO:0006782)|response to iron(II) ion (GO:0010040)|response to retinoic acid (GO:0032526)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)	4 iron, 4 sulfur cluster binding (GO:0051539)|iron-responsive element binding (GO:0030350)|metal ion binding (GO:0046872)|RNA binding (GO:0003723)|translation repressor activity (GO:0030371)	p.H741H(1)		central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(14)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	41				UCEC - Uterine corpus endometrioid carcinoma (272;0.232)		AAAATGCCCATGTCTTATTAT	0.383																																					NSCLC(200;764 2208 35157 49871 50830)	uc002bdr.2																			1	Substitution - coding silent(1)		lung(1)		0						c.(2221-2223)CAT>CAC		iron-responsive element binding protein 2							139.0	142.0	141.0					15																	78783002		2196	4293	6489	SO:0001819	synonymous_variant	3658						4 iron, 4 sulfur cluster binding|metal ion binding|protein binding	g.chr15:78783002T>C	M58511	CCDS10302.1	15q25.1	2013-09-20			ENSG00000136381	ENSG00000136381			6115	protein-coding gene	gene with protein product		147582				2172968	Standard	NM_004136		Approved	IRP2	uc002bdr.2	P48200	OTTHUMG00000143861	ENST00000258886.8:c.2223T>C	15.37:g.78783002T>C						IREB2_uc010unb.1_Silent_p.H491H	p.H741H	NM_004136	NP_004127	P48200	IREB2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (272;0.232)	18	2385	+			741					A8KAC7|E1CJT9|H0YKU0|Q13095|Q1HE21|Q59FQ7|Q8WVK6|Q9UF17	Silent	SNP	ENST00000258886.8	37	c.2223T>C	CCDS10302.1																																																																																				PASS	0.383	IREB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000290109.3	NM_004136		70	359	70	359	---	---	---	---
TMC3	342125	broad.mit.edu	37	15	81637158	81637158	+	Missense_Mutation	SNP	G	G	T			TCGA-34-2608-01A-02D-1522-08	TCGA-34-2608-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3c90209b-b6f6-40b2-a374-6cd37d6d3895	ca1f5f6f-bef8-49af-8bd0-c8beb0c4c53b	g.chr15:81637158G>T	ENST00000359440.5	-	13	1602	c.1467C>A	c.(1465-1467)agC>agA	p.S489R	RP11-761I4.3_ENST00000560851.1_RNA|RP11-761I4.3_ENST00000559277.1_RNA|TMC3_ENST00000558726.1_Missense_Mutation_p.S490R|RP11-761I4.3_ENST00000559781.1_RNA	NM_001080532.1	NP_001074001.1			transmembrane channel-like 3									p.S489R(1)		autonomic_ganglia(2)|breast(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	34						GAGTGTGGAGGCTAGTCTTGT	0.493																																						uc002bgo.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)|liver(1)	2						c.(1465-1467)AGC>AGA		transmembrane channel-like 3							92.0	90.0	91.0					15																	81637158		1980	4158	6138	SO:0001583	missense	342125					integral to membrane		g.chr15:81637158G>T	AY263163	CCDS45324.1	15q24.3	2006-11-24				ENSG00000188869			22995	protein-coding gene	gene with protein product						12906855, 12812529	Standard	NM_001080532		Approved		uc021ssk.1	Q7Z5M5		ENST00000359440.5:c.1467C>A	15.37:g.81637158G>T	ENSP00000352413:p.Ser489Arg					TMC3_uc010blr.1_RNA|TMC3_uc002bgp.2_Missense_Mutation_p.S489R	p.S489R	NM_001080532	NP_001074001	Q7Z5M5	TMC3_HUMAN			13	1467	-			489			Cytoplasmic (Potential).			Missense_Mutation	SNP	ENST00000359440.5	37	c.1467C>A	CCDS45324.1	.	.	.	.	.	.	.	.	.	.	G	5.128	0.209274	0.09757	.	.	ENSG00000188869	ENST00000359440	T	0.64085	-0.08	4.37	-8.74	0.00838	.	1.359350	0.04661	N	0.408908	T	0.32734	0.0839	N	0.08118	0	0.09310	N	1	B;B	0.20052	0.041;0.001	B;B	0.23018	0.043;0.003	T	0.20438	-1.0275	10	0.37606	T	0.19	-1.3481	2.0835	0.03640	0.2838:0.3936:0.1578:0.1648	.	489;489	Q7Z5M5-2;Q7Z5M5	.;TMC3_HUMAN	R	489	ENSP00000352413:S489R	ENSP00000352413:S489R	S	-	3	2	TMC3	79424213	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.957000	0.01521	-2.319000	0.00643	-2.275000	0.00273	AGC		PASS	0.493	TMC3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000417795.3	NM_181841		13	64	13	64	---	---	---	---
TICRR	90381	broad.mit.edu	37	15	90168052	90168052	+	Missense_Mutation	SNP	C	C	A			TCGA-34-2608-01A-02D-1522-08	TCGA-34-2608-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3c90209b-b6f6-40b2-a374-6cd37d6d3895	ca1f5f6f-bef8-49af-8bd0-c8beb0c4c53b	g.chr15:90168052C>A	ENST00000268138.7	+	20	4616	c.4511C>A	c.(4510-4512)cCt>cAt	p.P1504H	TICRR_ENST00000560985.1_Missense_Mutation_p.P1503H|KIF7_ENST00000558928.1_Intron			Q7Z2Z1	TICRR_HUMAN	TOPBP1-interacting checkpoint and replication regulator	1504					cell cycle checkpoint (GO:0000075)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|formation of translation preinitiation complex (GO:0001731)|mitotic DNA replication checkpoint (GO:0033314)|regulation of DNA-dependent DNA replication initiation (GO:0030174)|response to ionizing radiation (GO:0010212)	nucleus (GO:0005634)	chromatin binding (GO:0003682)	p.P1504H(1)									CTGTCTCACCCTGGGATTCCC	0.552																																						uc002boe.2																			1	Substitution - Missense(1)		lung(1)	ovary(4)|central_nervous_system(2)|skin(1)	7						c.(4510-4512)CCT>CAT		leucine-rich repeat kinase 1							133.0	140.0	138.0					15																	90168052		2200	4299	6499	SO:0001583	missense	90381				cell cycle|DNA repair|DNA replication|formation of translation preinitiation complex|G2/M transition checkpoint|mitotic cell cycle DNA replication checkpoint|regulation of DNA-dependent DNA replication initiation|response to ionizing radiation	nucleus	chromatin binding|protein binding	g.chr15:90168052C>A	AK123612	CCDS10352.2	15q26.1	2012-07-11	2012-07-11	2012-07-11	ENSG00000140534	ENSG00000140534			28704	protein-coding gene	gene with protein product	"""TOPBP1-interacting replication-stimulating protein"", ""SLD3 homolog (S. cerevisiae)"""	613298	"""chromosome 15 open reading frame 42"""	C15orf42		20116089, 20080954	Standard	NM_152259		Approved	MGC45866, FLJ41618, Treslin, SLD3	uc002boe.3	Q7Z2Z1	OTTHUMG00000149648	ENST00000268138.7:c.4511C>A	15.37:g.90168052C>A	ENSP00000268138:p.Pro1504His					C15orf42_uc010upv.1_RNA	p.P1504H	NM_152259	NP_689472	Q7Z2Z1	TICRR_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.128)		20	4511	+	Lung NSC(78;0.0237)|all_lung(78;0.0478)		1504					B2RE07|B3KVV9|D3IUT4|Q8N4X8|Q8NCH6|Q9BU55	Missense_Mutation	SNP	ENST00000268138.7	37	c.4511C>A	CCDS10352.2	.	.	.	.	.	.	.	.	.	.	C	11.01	1.514135	0.27123	.	.	ENSG00000140534	ENST00000268138	T	0.08546	3.08	4.77	0.128	0.14733	.	1.616680	0.03031	N	0.152051	T	0.08313	0.0207	L	0.29908	0.895	0.09310	N	1	B	0.17038	0.02	B	0.17098	0.017	T	0.39840	-0.9594	10	0.44086	T	0.13	0.4908	8.5168	0.33250	0.3772:0.5497:0.0:0.0731	.	1504	Q7Z2Z1	TICRR_HUMAN	H	1504	ENSP00000268138:P1504H	ENSP00000268138:P1504H	P	+	2	0	C15orf42	87969056	0.000000	0.05858	0.000000	0.03702	0.615000	0.37417	-0.042000	0.12063	0.128000	0.18479	-0.293000	0.09583	CCT		PASS	0.552	TICRR-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000312856.1	NM_152259		4	176	4	176	---	---	---	---
PIGQ	9091	broad.mit.edu	37	16	632882	632882	+	Splice_Site	SNP	G	G	T			TCGA-34-2608-01A-02D-1522-08	TCGA-34-2608-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3c90209b-b6f6-40b2-a374-6cd37d6d3895	ca1f5f6f-bef8-49af-8bd0-c8beb0c4c53b	g.chr16:632882G>T	ENST00000026218.5	+	10	1619		c.e10-1		PIGQ_ENST00000409527.2_Splice_Site|PIGQ_ENST00000321878.5_Splice_Site	NM_148920.2	NP_683721.1	Q9BRB3	PIGQ_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class Q						C-terminal protein lipidation (GO:0006501)|carbohydrate metabolic process (GO:0005975)|cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|preassembly of GPI anchor in ER membrane (GO:0016254)	endoplasmic reticulum membrane (GO:0005789)|glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex (GO:0000506)|integral component of membrane (GO:0016021)	phosphatidylinositol N-acetylglucosaminyltransferase activity (GO:0017176)	p.?(1)		central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(1)|lung(4)|prostate(1)|upper_aerodigestive_tract(1)	13		Hepatocellular(780;0.00335)				TGTCCTTCCAGATAAACCCAC	0.667																																						uc002cho.2																			1	Unknown(1)		lung(1)	central_nervous_system(1)	1						c.e10-1		phosphatidylinositol glycan anchor biosynthesis,							110.0	120.0	117.0					16																	632882		2201	4300	6501	SO:0001630	splice_region_variant	9091				C-terminal protein lipidation|carbohydrate metabolic process|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	phosphatidylinositol N-acetylglucosaminyltransferase activity	g.chr16:632882G>T	AB003723	CCDS10411.1, CCDS10412.1	16p13.3	2013-03-28	2006-06-28		ENSG00000007541	ENSG00000007541		"""Phosphatidylinositol glycan anchor biosynthesis"""	14135	protein-coding gene	gene with protein product		605754	"""phosphatidylinositol glycan, class Q"""			9463366, 9729469	Standard	NM_004204		Approved	hGPI1, GPI1	uc002cho.3	Q9BRB3	OTTHUMG00000168047	ENST00000026218.5:c.1532-1G>T	16.37:g.632882G>T						PIGQ_uc010bqw.2_Splice_Site_p.I532_splice|PIGQ_uc002chn.2_Splice_Site_p.I532_splice|PIGQ_uc010uui.1_Splice_Site|PIGQ_uc002chp.2_Splice_Site_p.D81_splice|uc010uuj.1_3'UTR	p.D511_splice	NM_148920	NP_683721	Q9BRB3	PIGQ_HUMAN			10	1634	+		Hepatocellular(780;0.00335)						A2IDE1|D3DU52|O14927|Q96G00|Q96S22|Q9UJH4	Splice_Site	SNP	ENST00000026218.5	37	c.1532_splice	CCDS10411.1	.	.	.	.	.	.	.	.	.	.	G	17.95	3.514054	0.64522	.	.	ENSG00000007541	ENST00000409527;ENST00000321878;ENST00000026218;ENST00000540241	.	.	.	5.34	5.34	0.76211	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.5992	0.88021	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PIGQ	572883	1.000000	0.71417	1.000000	0.80357	0.824000	0.46624	7.594000	0.82698	2.511000	0.84671	0.462000	0.41574	.		PASS	0.667	PIGQ-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000239270.2	NM_004204	Intron	35	252	35	252	---	---	---	---
PDPK1	5170	broad.mit.edu	37	16	2636802	2636802	+	Silent	SNP	C	C	T	rs532663585	byFrequency	TCGA-34-2608-01A-02D-1522-08	TCGA-34-2608-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3c90209b-b6f6-40b2-a374-6cd37d6d3895	ca1f5f6f-bef8-49af-8bd0-c8beb0c4c53b	g.chr16:2636802C>T	ENST00000342085.4	+	11	1400	c.1251C>T	c.(1249-1251)caC>caT	p.H417H	PDPK1_ENST00000389224.3_Silent_p.H390H|PDPK1_ENST00000354836.5_Silent_p.H393H|PDPK1_ENST00000268673.7_Silent_p.H290H|PDPK1_ENST00000441549.3_Silent_p.H417H	NM_002613.4	NP_002604.1	O15530	PDPK1_HUMAN	3-phosphoinositide dependent protein kinase 1	417					actin cytoskeleton organization (GO:0030036)|activation of protein kinase B activity (GO:0032148)|blood coagulation (GO:0007596)|calcium-mediated signaling (GO:0019722)|cell migration (GO:0016477)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to insulin stimulus (GO:0032869)|epidermal growth factor receptor signaling pathway (GO:0007173)|extrinsic apoptotic signaling pathway (GO:0097191)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|focal adhesion assembly (GO:0048041)|hyperosmotic response (GO:0006972)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|intracellular signal transduction (GO:0035556)|negative regulation of cardiac muscle cell apoptotic process (GO:0010667)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of toll-like receptor signaling pathway (GO:0034122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-threonine phosphorylation (GO:0018107)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of phospholipase activity (GO:0010518)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of endothelial cell migration (GO:0010594)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of mast cell degranulation (GO:0043304)|regulation of transcription, DNA-templated (GO:0006355)|synaptic transmission (GO:0007268)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|transcription, DNA-templated (GO:0006351)|type B pancreatic cell development (GO:0003323)	cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|plasma membrane (GO:0005886)	3-phosphoinositide-dependent protein kinase activity (GO:0004676)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phospholipase activator activity (GO:0016004)|phospholipase binding (GO:0043274)|protein serine/threonine kinase activity (GO:0004674)	p.H417H(1)		central_nervous_system(2)|endometrium(1)|large_intestine(1)|lung(2)|ovary(1)	7		Ovarian(90;0.17)			Celecoxib(DB00482)	AGTACATTCACGATCTGGACT	0.542													C|||	7	0.00139776	0.0	0.0	5008	,	,		20150	0.0		0.0	False		,,,				2504	0.0072					uc002cqs.2																			1	Substitution - coding silent(1)		lung(1)	central_nervous_system(2)|ovary(1)	3						c.(1249-1251)CAC>CAT		3-phosphoinositide dependent protein kinase-1	Celecoxib(DB00482)						155.0	143.0	147.0					16																	2636802		2198	4300	6498	SO:0001819	synonymous_variant	5170				actin cytoskeleton organization|activation of protein kinase B activity|insulin receptor signaling pathway|negative regulation of protein kinase activity|nerve growth factor receptor signaling pathway|peptidyl-threonine phosphorylation|phosphatidylinositol-mediated signaling|platelet activation|positive regulation of establishment of protein localization in plasma membrane|synaptic transmission|T cell costimulation|T cell receptor signaling pathway	cytosol|nucleoplasm|plasma membrane	3-phosphoinositide-dependent protein kinase activity|ATP binding	g.chr16:2636802C>T	AF017995	CCDS10472.1, CCDS10473.1, CCDS58411.1	16p13.3	2014-03-20	2014-03-20		ENSG00000140992	ENSG00000140992			8816	protein-coding gene	gene with protein product	"""PkB kinase"""	605213				9094314, 9445477	Standard	NM_002613		Approved	PDK1	uc002cqs.4	O15530	OTTHUMG00000128874	ENST00000342085.4:c.1251C>T	16.37:g.2636802C>T						PDPK1_uc002cqt.2_Silent_p.H290H|PDPK1_uc010bsn.2_Silent_p.H417H|PDPK1_uc002cqu.2_Silent_p.H390H	p.H417H	NM_002613	NP_002604	O15530	PDPK1_HUMAN			11	1395	+		Ovarian(90;0.17)	417					H0Y4Z0|Q59EH6|Q6FI20|Q8IV52|Q9BRD5	Silent	SNP	ENST00000342085.4	37	c.1251C>T	CCDS10472.1																																																																																				PASS	0.542	PDPK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250831.3			17	273	17	273	---	---	---	---
ANKS3	124401	broad.mit.edu	37	16	4747368	4747368	+	Silent	SNP	G	G	A			TCGA-34-2608-01A-02D-1522-08	TCGA-34-2608-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3c90209b-b6f6-40b2-a374-6cd37d6d3895	ca1f5f6f-bef8-49af-8bd0-c8beb0c4c53b	g.chr16:4747368G>A	ENST00000304283.4	-	16	2154	c.1860C>T	c.(1858-1860)ctC>ctT	p.L620L	ANKS3_ENST00000585773.1_Silent_p.L547L|ANKS3_ENST00000446014.2_Silent_p.L491L	NM_133450.3	NP_597707.1	Q6ZW76	ANKS3_HUMAN	ankyrin repeat and sterile alpha motif domain containing 3	620								p.L620L(1)		endometrium(5)|kidney(4)|large_intestine(3)|lung(5)|prostate(1)|stomach(1)	19						GGGCTCCCGAGAGCTCGGGGA	0.652																																						uc002cxj.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(1858-1860)CTC>CTT		ankyrin repeat and sterile alpha motif domain							68.0	71.0	70.0					16																	4747368		2197	4300	6497	SO:0001819	synonymous_variant	124401							g.chr16:4747368G>A	AK057329	CCDS10520.1, CCDS73820.1	16p13.3	2013-01-10			ENSG00000168096	ENSG00000168096		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	29422	protein-coding gene	gene with protein product						11853319	Standard	NM_133450		Approved	KIAA1977, FLJ32345, FLJ32767	uc002cxj.2	Q6ZW76	OTTHUMG00000129478	ENST00000304283.4:c.1860C>T	16.37:g.4747368G>A						ANKS3_uc010uxr.1_Silent_p.L143L|ANKS3_uc002cxh.1_RNA|ANKS3_uc002cxi.1_Silent_p.L547L|ANKS3_uc002cxk.2_Silent_p.L491L|ANKS3_uc002cxl.2_Silent_p.L447L|ANKS3_uc010uxs.1_Silent_p.L547L	p.L620L	NM_133450	NP_597707	Q6ZW76	ANKS3_HUMAN			16	2155	-			620					B4DWU4|D3DUE2|Q8TF25	Silent	SNP	ENST00000304283.4	37	c.1860C>T	CCDS10520.1																																																																																				PASS	0.652	ANKS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251642.3	NM_133450		15	111	15	111	---	---	---	---
RBFOX1	54715	broad.mit.edu	37	16	7726840	7726840	+	Splice_Site	SNP	G	G	T	rs187211692		TCGA-34-2608-01A-02D-1522-08	TCGA-34-2608-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3c90209b-b6f6-40b2-a374-6cd37d6d3895	ca1f5f6f-bef8-49af-8bd0-c8beb0c4c53b	g.chr16:7726840G>T	ENST00000550418.1	+	14	1983	c.995G>T	c.(994-996)aGt>aTt	p.S332I	RBFOX1_ENST00000552089.1_Splice_Site_p.R349I|RBFOX1_ENST00000547338.1_Splice_Site_p.S332I|RBFOX1_ENST00000355637.4_Splice_Site_p.R353I|RBFOX1_ENST00000340209.4_Splice_Site_p.S337I|RBFOX1_ENST00000311745.5_Splice_Site_p.S353I|RBFOX1_ENST00000547372.1_Splice_Site_p.R375I|RBFOX1_ENST00000422070.4_Splice_Site_p.S375I|RBFOX1_ENST00000535565.2_Splice_Site_p.R289I|RBFOX1_ENST00000436368.2_Splice_Site_p.S353I|RBFOX1_ENST00000553186.1_Splice_Site_p.S305I	NM_018723.3	NP_061193.2	Q9NWB1	RFOX1_HUMAN	RNA binding protein, fox-1 homolog (C. elegans) 1	332					mRNA processing (GO:0006397)|neuromuscular process controlling balance (GO:0050885)|regulation of RNA splicing (GO:0043484)|RNA splicing (GO:0008380)|RNA transport (GO:0050658)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|trans-Golgi network (GO:0005802)	nucleotide binding (GO:0000166)|protein C-terminus binding (GO:0008022)|RNA binding (GO:0003723)	p.S353I(1)|p.R353I(1)|p.S332I(1)		breast(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(11)|lung(17)|ovary(1)|pancreas(1)|prostate(5)|skin(5)|upper_aerodigestive_tract(2)	55						TACAGTGACAGGTAAGGGTCA	0.478																																					Ovarian(157;934 2567 15163 39509)	uc002cys.2																			3	Substitution - Missense(3)		lung(3)		0						c.(994-996)AGT>ATT		ataxin 2-binding protein 1 isoform 4							157.0	118.0	131.0					16																	7726840		2197	4300	6497	SO:0001630	splice_region_variant	54715				mRNA processing|RNA splicing|RNA transport	nucleus|trans-Golgi network	nucleotide binding|protein C-terminus binding|RNA binding	g.chr16:7726840G>T	AF107203	CCDS10531.1, CCDS10532.1, CCDS45405.1, CCDS55983.1, CCDS55984.1	16p13.3	2013-02-12			ENSG00000078328	ENSG00000078328		"""RNA binding motif (RRM) containing"""	18222	protein-coding gene	gene with protein product	"""ataxin 2-binding protein 1"", ""hexaribonucleotide binding protein 1"""	605104				10814712, 16260614	Standard	NM_018723		Approved	A2BP1, FOX-1, HRNBP1	uc002cyy.2	Q9NWB1	OTTHUMG00000129551	ENST00000550418.1:c.995+1G>T	16.37:g.7726840G>T						A2BP1_uc002cyt.2_Missense_Mutation_p.S305I|A2BP1_uc010uxz.1_Missense_Mutation_p.S375I|A2BP1_uc010uya.1_Missense_Mutation_p.R289I|A2BP1_uc010uyb.1_Missense_Mutation_p.S332I|A2BP1_uc002cyw.2_Missense_Mutation_p.R353I|A2BP1_uc002cyy.2_Missense_Mutation_p.S353I|A2BP1_uc002cyx.2_Missense_Mutation_p.S353I|A2BP1_uc010uyc.1_Missense_Mutation_p.S326I	p.S332I	NM_018723	NP_061193	Q9NWB1	RFOX1_HUMAN		Colorectal(1;3.55e-51)|COAD - Colon adenocarcinoma(2;1.92e-46)|all cancers(1;5.36e-16)|Epithelial(1;3.98e-15)|READ - Rectum adenocarcinoma(2;3.71e-05)|GBM - Glioblastoma multiforme(1;0.0499)	14	1983	+		all_cancers(2;4.54e-52)|Colorectal(2;6.95e-44)|all_epithelial(2;1.15e-37)|Lung NSC(2;0.000289)|all_lung(2;0.00148)|Myeloproliferative disorder(2;0.0122)|Medulloblastoma(2;0.0354)|all_neural(2;0.0381)|all_hematologic(2;0.0749)|Renal(2;0.0758)|Melanoma(2;0.211)	332					Q7Z7I7|Q8TAE3|Q8TAF2|Q8WYB2|Q9NS20	Missense_Mutation	SNP	ENST00000550418.1	37	c.995G>T	CCDS55983.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.58|16.58	3.163113|3.163113	0.57476|0.57476	.|.	.|.	ENSG00000078328|ENSG00000078328	ENST00000547372;ENST00000535565;ENST00000552089;ENST00000355637|ENST00000550418;ENST00000553186;ENST00000422070;ENST00000547338;ENST00000436368;ENST00000311745;ENST00000352951;ENST00000340209	T;T|T;T;T;T;T;T;T	0.26067|0.37235	1.76;1.81|1.21;1.58;1.53;1.21;1.38;1.57;1.21	5.35|5.35	3.39|3.39	0.38822|0.38822	.|.	.|0.163300	.|0.64402	.|D	.|0.000002	T|T	0.49304|0.49304	0.1549|0.1549	L|L	0.43152|0.43152	1.355|1.355	0.45118|0.45118	D|D	0.99813|0.99813	D;D|D;D;D;D;D;D	0.64830|0.89917	0.994;0.994|0.998;1.0;0.999;0.997;0.995;0.998	P;P|D;D;D;D;D;D	0.56960|0.85130	0.81;0.81|0.935;0.987;0.997;0.974;0.97;0.985	T|T	0.44711|0.44711	-0.9310|-0.9310	8|10	.|0.56958	.|D	.|0.05	-8.1067|-8.1067	11.3737|11.3737	0.49715|0.49715	0.1482:0.0:0.8518:0.0|0.1482:0.0:0.8518:0.0	.|.	289;353|326;375;353;353;305;332	F5H0M1;Q9NWB1-5|F8WAC5;B7Z1U7;Q9NWB1-2;Q9NWB1-4;Q9NWB1-3;Q9NWB1	.;.|.;.;.;.;.;RFOX1_HUMAN	I|I	375;289;349;353|332;305;375;332;353;353;326;337	ENSP00000446842:R375I;ENSP00000347855:R353I|ENSP00000450031:S332I;ENSP00000447753:S305I;ENSP00000391269:S375I;ENSP00000447717:S332I;ENSP00000402745:S353I;ENSP00000309117:S353I;ENSP00000344196:S337I	.|ENSP00000309117:S353I	R|S	+|+	2|2	0|0	RBFOX1|RBFOX1	7666841|7666841	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.607000|0.607000	0.37147|0.37147	7.335000|7.335000	0.79234|0.79234	0.755000|0.755000	0.32990|0.32990	-0.145000|-0.145000	0.13849|0.13849	AGA|AGT		PASS	0.478	RBFOX1-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000409492.2	NM_145891	Missense_Mutation	5	124	5	124	---	---	---	---
PAPD5	64282	broad.mit.edu	37	16	50258853	50258853	+	Missense_Mutation	SNP	T	T	A			TCGA-34-2608-01A-02D-1522-08	TCGA-34-2608-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3c90209b-b6f6-40b2-a374-6cd37d6d3895	ca1f5f6f-bef8-49af-8bd0-c8beb0c4c53b	g.chr16:50258853T>A	ENST00000561678.1	+	8	1259	c.1185T>A	c.(1183-1185)gaT>gaA	p.D395E	PAPD5_ENST00000436909.3_Missense_Mutation_p.D505E|PAPD5_ENST00000573002.1_3'UTR|PAPD5_ENST00000357464.3_Missense_Mutation_p.D426E			Q8NDF8	PAPD5_HUMAN	PAP associated domain containing 5	426					histone mRNA catabolic process (GO:0071044)|mitotic nuclear division (GO:0007067)|mRNA processing (GO:0006397)|rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|polynucleotide adenylyltransferase activity (GO:0004652)	p.D138E(1)|p.D505E(1)		endometrium(1)|kidney(1)|lung(2)	4		all_cancers(37;0.0452)		BRCA - Breast invasive adenocarcinoma(181;0.0843)|GBM - Glioblastoma multiforme(240;0.231)		CATATAGAGATTGGATATCAA	0.383																																						uc010vgo.1																			2	Substitution - Missense(2)		lung(2)		0						c.(1513-1515)GAT>GAA		PAP associated domain containing 5 isoform a							181.0	172.0	175.0					16																	50258853		1863	4106	5969	SO:0001583	missense	64282				cell division|DNA replication|histone mRNA catabolic process|mitosis	cytoplasm|nucleus	DNA binding|DNA-directed DNA polymerase activity|metal ion binding	g.chr16:50258853T>A	AF089897	CCDS54006.1	16q12.1	2010-11-18				ENSG00000121274			30758	protein-coding gene	gene with protein product	"""TUTase3"""	605540				10066793	Standard	NM_001040284		Approved	TRF4-2	uc010vgo.2	Q8NDF8		ENST00000561678.1:c.1185T>A	16.37:g.50258853T>A	ENSP00000455837:p.Asp395Glu					PAPD5_uc010cbi.2_RNA|PAPD5_uc002efz.2_Missense_Mutation_p.D296E|PAPD5_uc002ega.2_Missense_Mutation_p.D296E	p.D505E	NM_001040284	NP_001035374	Q8NDF8	PAPD5_HUMAN		BRCA - Breast invasive adenocarcinoma(181;0.0843)|GBM - Glioblastoma multiforme(240;0.231)	10	1550	+		all_cancers(37;0.0452)	426					B4DV38|Q9NW67|Q9Y6C0	Missense_Mutation	SNP	ENST00000561678.1	37	c.1515T>A		.	.	.	.	.	.	.	.	.	.	T	9.696	1.153075	0.21371	.	.	ENSG00000121274	ENST00000436909;ENST00000357464	T;T	0.39787	1.06;1.06	6.07	-3.31	0.04988	.	0.088159	0.85682	D	0.000000	T	0.12732	0.0309	N	0.02202	-0.64	0.40700	D	0.98247	B;B	0.17268	0.021;0.012	B;B	0.13407	0.009;0.004	T	0.37911	-0.9685	10	0.05959	T	0.93	.	10.917	0.47142	0.1029:0.5418:0.0:0.3553	.	505;426	B4DV38;Q8NDF8	.;PAPD5_HUMAN	E	505;426	ENSP00000396995:D505E;ENSP00000350054:D426E	ENSP00000350054:D426E	D	+	3	2	PAPD5	48816354	0.749000	0.28305	0.933000	0.37362	0.650000	0.38633	-0.138000	0.10374	-0.607000	0.05738	-1.054000	0.02325	GAT		PASS	0.383	PAPD5-002	PUTATIVE	not_organism_supported|basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000423150.1	NM_022447		28	246	28	246	---	---	---	---
CDH8	1006	broad.mit.edu	37	16	61858915	61858915	+	Splice_Site	SNP	C	C	T			TCGA-34-2608-01A-02D-1522-08	TCGA-34-2608-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3c90209b-b6f6-40b2-a374-6cd37d6d3895	ca1f5f6f-bef8-49af-8bd0-c8beb0c4c53b	g.chr16:61858915C>T	ENST00000577390.1	-	5	1790		c.e5+1		CDH8_ENST00000584337.1_Splice_Site|CDH8_ENST00000577730.1_Splice_Site|CDH8_ENST00000299345.6_Splice_Site	NM_001796.4	NP_001787.2	P55286	CADH8_HUMAN	cadherin 8, type 2						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)|response to cold (GO:0009409)|synaptic transmission, glutamatergic (GO:0035249)	axon terminus (GO:0043679)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synaptic cleft (GO:0043083)	calcium ion binding (GO:0005509)	p.?(1)		biliary_tract(1)|breast(3)|cervix(1)|endometrium(7)|kidney(6)|large_intestine(22)|liver(2)|lung(49)|ovary(6)|pancreas(2)|prostate(5)|skin(4)|urinary_tract(4)	112		Ovarian(137;0.0799)|Melanoma(118;0.16)		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)		AATTAACTTACTCTGTGCAAA	0.373																																						uc002eog.1																			1	Unknown(1)		lung(1)	ovary(6)|skin(2)|breast(1)	9						c.e5+1		cadherin 8, type 2 preproprotein							93.0	89.0	90.0					16																	61858915		2203	4300	6503	SO:0001630	splice_region_variant	1006				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr16:61858915C>T	L34060	CCDS10802.1	16q22.1	2010-01-26			ENSG00000150394	ENSG00000150394		"""Cadherins / Major cadherins"""	1767	protein-coding gene	gene with protein product		603008				9615235, 2059658	Standard	NM_001796		Approved		uc002eog.2	P55286	OTTHUMG00000137493	ENST00000577390.1:c.835+1G>A	16.37:g.61858915C>T						CDH8_uc002eoh.2_Splice_Site_p.S48_splice	p.S279_splice	NM_001796	NP_001787	P55286	CADH8_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (183;0.196)|Epithelial(162;0.0155)|all cancers(182;0.0305)|OV - Ovarian serous cystadenocarcinoma(108;0.0499)|BRCA - Breast invasive adenocarcinoma(181;0.249)	5	1087	-		Ovarian(137;0.0799)|Melanoma(118;0.16)						B3KWC1|Q14DC6|Q9ULB2	Splice_Site	SNP	ENST00000577390.1	37	c.835_splice	CCDS10802.1	.	.	.	.	.	.	.	.	.	.	C	32	5.107712	0.94292	.	.	ENSG00000150394	ENST00000299345	.	.	.	6.02	6.02	0.97574	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.5373	0.99239	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	CDH8	60416416	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.770000	0.85390	2.857000	0.98124	0.650000	0.86243	.		PASS	0.373	CDH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268754.3	NM_001796	Intron	8	100	8	100	---	---	---	---
FHOD1	29109	broad.mit.edu	37	16	67281231	67281231	+	Missense_Mutation	SNP	G	G	C			TCGA-34-2608-01A-02D-1522-08	TCGA-34-2608-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3c90209b-b6f6-40b2-a374-6cd37d6d3895	ca1f5f6f-bef8-49af-8bd0-c8beb0c4c53b	g.chr16:67281231G>C	ENST00000258201.4	-	1	330	c.83C>G	c.(82-84)cCc>cGc	p.P28R	SLC9A5_ENST00000299798.11_5'Flank	NM_013241.2	NP_037373.2	Q9Y613	FHOD1_HUMAN	formin homology 2 domain containing 1	28					positive regulation of stress fiber assembly (GO:0051496)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|membrane (GO:0016020)|nucleus (GO:0005634)	identical protein binding (GO:0042802)	p.P28R(1)		breast(4)|endometrium(3)|kidney(3)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	34		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.000691)|Epithelial(162;0.00462)|all cancers(182;0.0434)		ACATGCGAAGGGGTCGGTGTC	0.716																																						uc002esl.2																			1	Substitution - Missense(1)		lung(1)	breast(2)|ovary(1)	3						c.(82-84)CCC>CGC		formin homology 2 domain containing 1							50.0	48.0	49.0					16																	67281231		2198	4300	6498	SO:0001583	missense	29109				actin cytoskeleton organization	cytoplasm|cytoskeleton|nucleus	actin binding	g.chr16:67281231G>C	AF113615	CCDS10834.1	16q22	2008-02-22			ENSG00000135723	ENSG00000135723			17905	protein-coding gene	gene with protein product		606881				10352228, 16112087	Standard	NM_013241		Approved	FHOS	uc002esl.3	Q9Y613	OTTHUMG00000137521	ENST00000258201.4:c.83C>G	16.37:g.67281231G>C	ENSP00000258201:p.Pro28Arg					FHOD1_uc010ced.2_5'UTR|FHOD1_uc010vjh.1_5'UTR|SLC9A5_uc002esm.2_5'Flank|SLC9A5_uc010cee.2_5'Flank|SLC9A5_uc010vji.1_5'Flank	p.P28R	NM_013241	NP_037373	Q9Y613	FHOD1_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.000691)|Epithelial(162;0.00462)|all cancers(182;0.0434)	1	195	-		Ovarian(137;0.0563)	28					Q59F76|Q6Y1F2|Q76MS8|Q8N521	Missense_Mutation	SNP	ENST00000258201.4	37	c.83C>G	CCDS10834.1	.	.	.	.	.	.	.	.	.	.	G	33	5.196266	0.94960	.	.	ENSG00000135723	ENST00000258201	T	0.27104	1.69	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	T	0.51024	0.1650	M	0.71036	2.16	0.80722	D	1	D	0.76494	0.999	D	0.64877	0.93	T	0.51896	-0.8647	10	0.87932	D	0	.	18.659	0.91465	0.0:0.0:1.0:0.0	.	28	Q9Y613	FHOD1_HUMAN	R	28	ENSP00000258201:P28R	ENSP00000258201:P28R	P	-	2	0	FHOD1	65838732	1.000000	0.71417	0.998000	0.56505	0.991000	0.79684	7.496000	0.81526	2.652000	0.90054	0.561000	0.74099	CCC		PASS	0.716	FHOD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268844.2			4	47	4	47	---	---	---	---
ATMIN	23300	broad.mit.edu	37	16	81077572	81077572	+	Missense_Mutation	SNP	C	C	G			TCGA-34-2608-01A-02D-1522-08	TCGA-34-2608-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3c90209b-b6f6-40b2-a374-6cd37d6d3895	ca1f5f6f-bef8-49af-8bd0-c8beb0c4c53b	g.chr16:81077572C>G	ENST00000299575.4	+	4	1493	c.1469C>G	c.(1468-1470)tCc>tGc	p.S490C	ATMIN_ENST00000566488.1_Missense_Mutation_p.S334C|ATMIN_ENST00000564241.1_Missense_Mutation_p.S334C|ATMIN_ENST00000539819.1_3'UTR	NM_015251.2	NP_056066.2	O43313	ATMIN_HUMAN	ATM interactor	490					cellular response to DNA damage stimulus (GO:0006974)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	dynein binding (GO:0045502)|metal ion binding (GO:0046872)|transcription regulatory region DNA binding (GO:0044212)	p.S490C(1)		breast(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(9)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	20						GGTGGGGTCTCCAGAGAAACT	0.458																																						uc002ffz.1																			1	Substitution - Missense(1)		lung(1)		0						c.(1468-1470)TCC>TGC		ATM interactor							88.0	85.0	86.0					16																	81077572		2202	4300	6502	SO:0001583	missense	23300				response to DNA damage stimulus	nucleus	zinc ion binding	g.chr16:81077572C>G	BC002701	CCDS32494.1, CCDS73917.1	16q23.2	2013-01-07			ENSG00000166454	ENSG00000166454		"""Zinc fingers, C2H2-type"""	29034	protein-coding gene	gene with protein product	"""ATM/ATR-Substrate Chk2-Interacting Zn++-finger protein"", ""ATM INteracting protein"""	614693				15933716, 17525732, 19001856	Standard	XM_005255866		Approved	ASCIZ, KIAA0431, ZNF822	uc002ffz.1	O43313	OTTHUMG00000176469	ENST00000299575.4:c.1469C>G	16.37:g.81077572C>G	ENSP00000299575:p.Ser490Cys					ATMIN_uc002fga.2_Missense_Mutation_p.S332C|ATMIN_uc010vnn.1_Missense_Mutation_p.S261C|ATMIN_uc002fgb.1_Missense_Mutation_p.S332C	p.S490C	NM_015251	NP_056066	O43313	ATMIN_HUMAN			4	1487	+			490					A8K4H8|Q68DC9	Missense_Mutation	SNP	ENST00000299575.4	37	c.1469C>G	CCDS32494.1	.	.	.	.	.	.	.	.	.	.	C	17.76	3.467775	0.63625	.	.	ENSG00000166454	ENST00000299575;ENST00000539819	T	0.03181	4.02	6.17	6.17	0.99709	.	0.049284	0.85682	D	0.000000	T	0.19967	0.0480	M	0.76574	2.34	0.58432	D	0.999999	D	0.89917	1.0	D	0.87578	0.998	T	0.00054	-1.2183	10	0.32370	T	0.25	-13.9454	20.8794	0.99867	0.0:1.0:0.0:0.0	.	490	O43313	ATMIN_HUMAN	C	490;261	ENSP00000299575:S490C	ENSP00000299575:S490C	S	+	2	0	ATMIN	79635073	1.000000	0.71417	1.000000	0.80357	0.332000	0.28634	5.268000	0.65536	2.941000	0.99782	0.655000	0.94253	TCC		PASS	0.458	ATMIN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000432140.1	NM_015251		31	185	31	185	---	---	---	---
TP53	7157	broad.mit.edu	37	17	7578457	7578457	+	Missense_Mutation	SNP	C	C	A	rs587782144		TCGA-34-2608-01A-02D-1522-08	TCGA-34-2608-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3c90209b-b6f6-40b2-a374-6cd37d6d3895	ca1f5f6f-bef8-49af-8bd0-c8beb0c4c53b	g.chr17:7578457C>A	ENST00000269305.4	-	5	662	c.473G>T	c.(472-474)cGc>cTc	p.R158L	TP53_ENST00000445888.2_Missense_Mutation_p.R158L|TP53_ENST00000420246.2_Missense_Mutation_p.R158L|TP53_ENST00000413465.2_Missense_Mutation_p.R158L|TP53_ENST00000359597.4_Missense_Mutation_p.R158L|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000455263.2_Missense_Mutation_p.R158L	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	158	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		R -> C (in sporadic cancers; somatic mutation).|R -> F (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in a sporadic cancer; somatic mutation).|R -> S (in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		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.R158L(77)|p.R158H(74)|p.R158P(9)|p.R65L(8)|p.0?(8)|p.R26L(8)|p.R158fs(6)|p.R158fs*11(6)|p.R65H(5)|p.R26H(5)|p.R158_A159insX(4)|p.R65fs(2)|p.R158_A159delRA(2)|p.R156_I162delRVRAMAI(2)|p.V157fs*9(2)|p.P153fs*22(2)|p.R26fs(2)|p.V157fs*22(2)|p.V157_C176del20(1)|p.R156_A161delRVRAMA(1)|p.R158F(1)|p.P151_V173del23(1)|p.R156_R158delRVR(1)|p.R156fs*18(1)|p.R26fs*11(1)|p.R156_A161del(1)|p.V157_M160delVRAM(1)|p.V157_R158delVR(1)|p.S149fs*72(1)|p.A159fs*21(1)|p.T155_A161delTRVRAMA(1)|p.G154fs*22(1)|p.R65fs*11(1)|p.R156fs*20(1)|p.R158C(1)|p.V157_I162delVRAMAI(1)|p.V157fs*21(1)|p.R158fs*8(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)	GGCCATGGCGCGGACGCGGGT	0.627		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)	uc002gim.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		244	Substitution - Missense(188)|Deletion - Frameshift(19)|Deletion - In frame(13)|Complex(10)|Whole gene deletion(8)|Insertion - In frame(4)|Complex - frameshift(2)	p.R158H(58)|p.R158L(55)|p.R158C(17)|p.R158G(10)|p.R158P(9)|p.0?(7)|p.R158R(6)|p.R158fs*12(5)|p.R158_A159insX(4)|p.R158_A159delRA(2)|p.R156_I162delRVRAMAI(2)|p.V157fs*9(2)|p.P153fs*22(2)|p.R158fs*11(2)|p.V157fs*22(2)|p.V157_C176del20(1)|p.R156_A161delRVRAMA(1)|p.R158F(1)|p.P151_V173del23(1)|p.R158fs*24(1)|p.R65L(1)|p.R156_R158delRVR(1)|p.R156fs*18(1)|p.R156_A161del(1)|p.R158_A159insXX(1)|p.V157_M160delVRAM(1)|p.V157_R158delVR(1)|p.S149fs*72(1)|p.A159fs*21(1)|p.T155_A161delTRVRAMA(1)|p.G154fs*22(1)|p.R156fs*20(1)|p.V157_I162delVRAMAI(1)|p.R26L(1)|p.V157fs*21(1)|p.R158fs*8(1)	lung(78)|central_nervous_system(33)|oesophagus(20)|haematopoietic_and_lymphoid_tissue(19)|large_intestine(18)|upper_aerodigestive_tract(12)|stomach(12)|urinary_tract(9)|prostate(7)|kidney(6)|liver(6)|breast(5)|bone(4)|soft_tissue(3)|ovary(3)|pancreas(3)|thyroid(2)|biliary_tract(2)|vulva(1)|thymus(1)	large_intestine(4656)|breast(2429)|upper_aerodigestive_tract(2212)|lung(2028)|ovary(1592)|oesophagus(1462)|haematopoietic_and_lymphoid_tissue(1228)|stomach(1136)|urinary_tract(1114)|central_nervous_system(1085)|liver(805)|skin(694)|pancreas(375)|biliary_tract(247)|soft_tissue(209)|prostate(194)|endometrium(150)|bone(102)|vulva(79)|kidney(79)|cervix(68)|thyroid(54)|salivary_gland(43)|adrenal_gland(37)|peritoneum(33)|eye(24)|thymus(21)|genital_tract(16)|autonomic_ganglia(16)|small_intestine(14)|testis(11)|penis(10)|vagina(6)|meninges(5)|pituitary(4)|pleura(3)|gastrointestinal_tract_(site_indeterminate)(1)|NS(1)|Fallopian tube(1)|placenta(1)	22245	GRCh37	CM994513	TP53	M		c.(472-474)CGC>CTC	Other_conserved_DNA_damage_response_genes	tumor protein p53 isoform a							49.0	51.0	50.0					17																	7578457		2203	4300	6503	SO:0001583	missense	7157	Hereditary_Adrenocortical_Cancer|Endometrial_Cancer_Familial_Clustering_of|Hereditary_Breast-Ovarian_Cancer_non-BRCA1/2|Li-Fraumeni_syndrome|Osteosarcoma_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|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|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 regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578457C>A	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.473G>T	17.37:g.7578457C>A	ENSP00000269305:p.Arg158Leu	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_uc002gig.1_Missense_Mutation_p.R158L|TP53_uc002gih.2_Missense_Mutation_p.R158L|TP53_uc010cne.1_5'Flank|TP53_uc010cnf.1_Missense_Mutation_p.R26L|TP53_uc010cng.1_Missense_Mutation_p.R26L|TP53_uc002gii.1_Missense_Mutation_p.R26L|TP53_uc010cnh.1_Missense_Mutation_p.R158L|TP53_uc010cni.1_Missense_Mutation_p.R158L|TP53_uc002gij.2_Missense_Mutation_p.R158L|TP53_uc010cnj.1_RNA|TP53_uc002gin.2_Missense_Mutation_p.R65L|TP53_uc002gio.2_Missense_Mutation_p.R26L|TP53_uc010vug.1_Missense_Mutation_p.R119L	p.R158L	NM_001126112	NP_001119584	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	5	667	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	158		R -> F (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> C (in sporadic cancers; somatic mutation).|R -> P (in sporadic cancers; somatic mutation).|R -> S (in sporadic cancers; somatic mutation).|R -> Q (in a sporadic cancer; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).	Required for interaction with FBXO42.||Interaction with HIPK1 (By similarity).|Interaction with AXIN1 (By similarity).		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	Missense_Mutation	SNP	ENST00000269305.4	37	c.473G>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	18.06	3.538284	0.65085	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315;ENST00000508793	D;D;D;D;D;D;D;D;D	0.99866	-7.3;-7.3;-7.3;-7.3;-7.3;-7.3;-7.3;-7.3;-7.3	5.59	4.63	0.57726	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.110116	0.64402	D	0.000010	D	0.99869	0.9938	M	0.92026	3.265	0.80722	D	1	D;D;D;D;D;D;D	0.89917	1.0;0.999;0.999;1.0;0.999;0.999;1.0	D;D;D;D;D;D;D	0.97110	0.998;0.988;0.981;0.996;0.99;0.986;1.0	D	0.96498	0.9369	10	0.87932	D	0	-10.4795	12.6491	0.56751	0.0:0.9196:0.0:0.0804	.	119;158;158;65;158;158;158	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	L	158;158;158;158;158;158;147;65;26;65;26;158	ENSP00000410739:R158L;ENSP00000352610:R158L;ENSP00000269305:R158L;ENSP00000398846:R158L;ENSP00000391127:R158L;ENSP00000391478:R158L;ENSP00000425104:R26L;ENSP00000423862:R65L;ENSP00000424104:R158L	ENSP00000269305:R158L	R	-	2	0	TP53	7519182	1.000000	0.71417	0.034000	0.17996	0.175000	0.22909	7.775000	0.85489	1.514000	0.48869	-0.140000	0.14226	CGC		PASS	0.627	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		12	93	12	93	---	---	---	---
SSH2	85464	broad.mit.edu	37	17	27959688	27959688	+	Missense_Mutation	SNP	C	C	G			TCGA-34-2608-01A-02D-1522-08	TCGA-34-2608-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3c90209b-b6f6-40b2-a374-6cd37d6d3895	ca1f5f6f-bef8-49af-8bd0-c8beb0c4c53b	g.chr17:27959688C>G	ENST00000269033.3	-	15	2594	c.2443G>C	c.(2443-2445)Gaa>Caa	p.E815Q	SSH2_ENST00000540801.1_Missense_Mutation_p.E842Q|RP11-68I3.2_ENST00000581474.1_RNA	NM_001282129.1|NM_033389.2	NP_001269058.1|NP_203747.2	Q76I76	SSH2_HUMAN	slingshot protein phosphatase 2	815					actin cytoskeleton organization (GO:0030036)|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)|extracellular space (GO:0005615)	actin binding (GO:0003779)|DNA binding (GO:0003677)|phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.E815K(1)|p.E815Q(1)	SSH2/SUZ12(2)	breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						TTGGCTAGTTCAGGCTGGGCT	0.537																																						uc002heo.1																			2	Substitution - Missense(2)		lung(1)|breast(1)	skin(2)	2						c.(2443-2445)GAA>CAA		slingshot 2							165.0	145.0	152.0					17																	27959688		2203	4300	6503	SO:0001583	missense	85464				actin cytoskeleton organization|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly	cytoplasm|cytoskeleton	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr17:27959688C>G	AB072359	CCDS11253.1, CCDS74024.1	17q11.2	2013-03-05	2013-03-05		ENSG00000141298	ENSG00000141298		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Slingshots"""	30580	protein-coding gene	gene with protein product		606779	"""slingshot homolog 2 (Drosophila)"""			11832213, 11214970	Standard	XM_005258059		Approved	KIAA1725	uc002heo.1	Q76I76	OTTHUMG00000132752	ENST00000269033.3:c.2443G>C	17.37:g.27959688C>G	ENSP00000269033:p.Glu815Gln					SSH2_uc010wbh.1_Missense_Mutation_p.E842Q	p.E815Q	NM_033389	NP_203747	Q76I76	SSH2_HUMAN			15	2443	-			815					Q8TDB5|Q8WYL1|Q8WYL2|Q96F40|Q96H36|Q9C0D8	Missense_Mutation	SNP	ENST00000269033.3	37	c.2443G>C	CCDS11253.1	.	.	.	.	.	.	.	.	.	.	C	18.88	3.716750	0.68844	.	.	ENSG00000141298	ENST00000269033;ENST00000540801	T;T	0.13420	2.6;2.59	6.08	6.08	0.98989	.	0.841884	0.10982	N	0.612555	T	0.29817	0.0745	L	0.60455	1.87	0.36745	D	0.882431	D;P	0.61080	0.989;0.799	P;B	0.58266	0.836;0.395	T	0.01977	-1.1236	10	0.49607	T	0.09	-4.4865	11.5935	0.50959	0.0:0.8804:0.0:0.1196	.	842;815	F5H527;Q76I76	.;SSH2_HUMAN	Q	815;842	ENSP00000269033:E815Q;ENSP00000444743:E842Q	ENSP00000269033:E815Q	E	-	1	0	SSH2	24983814	0.827000	0.29292	0.999000	0.59377	0.919000	0.55068	2.075000	0.41538	2.894000	0.99253	0.655000	0.94253	GAA		PASS	0.537	SSH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256116.1	NM_033389		34	232	34	232	---	---	---	---
LIG3	3980	broad.mit.edu	37	17	33310101	33310101	+	Missense_Mutation	SNP	A	A	G			TCGA-34-2608-01A-02D-1522-08	TCGA-34-2608-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3c90209b-b6f6-40b2-a374-6cd37d6d3895	ca1f5f6f-bef8-49af-8bd0-c8beb0c4c53b	g.chr17:33310101A>G	ENST00000378526.4	+	2	210	c.77A>G	c.(76-78)aAa>aGa	p.K26R	LIG3_ENST00000262327.5_Missense_Mutation_p.K26R|LIG3_ENST00000586407.1_Intron	NM_013975.3	NP_039269.2	P49916	DNLI3_HUMAN	ligase III, DNA, ATP-dependent	26					base-excision repair (GO:0006284)|base-excision repair, DNA ligation (GO:0006288)|DNA biosynthetic process (GO:0071897)|DNA repair (GO:0006281)|double-strand break repair via nonhomologous end joining (GO:0006303)|lagging strand elongation (GO:0006273)|mitochondrial DNA repair (GO:0043504)|negative regulation of DNA recombination (GO:0045910)|nucleotide-excision repair (GO:0006289)|reciprocal meiotic recombination (GO:0007131)|spermatogenesis (GO:0007283)	chromosome (GO:0005694)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA ligase (ATP) activity (GO:0003910)|DNA ligase activity (GO:0003909)|zinc ion binding (GO:0008270)	p.K26R(1)		endometrium(4)|large_intestine(8)|lung(9)|ovary(3)|pancreas(2)|prostate(1)|skin(3)|stomach(1)	31		Ovarian(249;0.17)			Bleomycin(DB00290)	CTATTCCGAAAACATCACTGG	0.458								Other BER factors																														uc002hik.1																			1	Substitution - Missense(1)		lung(1)	skin(3)|lung(2)|ovary(2)|large_intestine(1)|pancreas(1)	9						c.(76-78)AAA>AGA	Other_BER_factors	ligase III, DNA, ATP-dependent isoform alpha	Bleomycin(DB00290)						96.0	90.0	92.0					17																	33310101		2203	4300	6503	SO:0001583	missense	3980				base-excision repair|cell division|DNA ligation involved in DNA repair|DNA replication|reciprocal meiotic recombination|spermatogenesis	nucleoplasm	ATP binding|DNA binding|DNA ligase (ATP) activity|protein binding|zinc ion binding	g.chr17:33310101A>G		CCDS11284.2, CCDS11285.2	17q11.2-q12	2008-10-29			ENSG00000005156	ENSG00000005156			6600	protein-coding gene	gene with protein product		600940	"""ligase II, DNA, ATP-dependent"""	LIG2		7760816	Standard	NM_002311		Approved		uc002hik.2	P49916	OTTHUMG00000128519	ENST00000378526.4:c.77A>G	17.37:g.33310101A>G	ENSP00000367787:p.Lys26Arg					LIG3_uc002hii.2_Missense_Mutation_p.K26R|LIG3_uc002hij.2_Missense_Mutation_p.K26R|LIG3_uc010cth.1_Missense_Mutation_p.K35R	p.K26R	NM_013975	NP_039269	P49916	DNLI3_HUMAN			2	185	+		Ovarian(249;0.17)	26					Q16714|Q6NVK3	Missense_Mutation	SNP	ENST00000378526.4	37	c.77A>G	CCDS11284.2	.	.	.	.	.	.	.	.	.	.	A	2.806	-0.248110	0.05867	.	.	ENSG00000005156	ENST00000378526;ENST00000262327	T;T	0.61859	0.2;0.07	5.01	1.41	0.22369	.	1.322900	0.05016	N	0.471819	T	0.39708	0.1088	N	0.14661	0.345	0.09310	N	1	B;B;B;B	0.13594	0.001;0.001;0.001;0.008	B;B;B;B	0.12837	0.0;0.0;0.0;0.008	T	0.33879	-0.9851	10	0.62326	D	0.03	0.1466	4.2986	0.10913	0.6453:0.1709:0.1838:0.0	.	26;26;26;26	E5KLB5;P49916;E5KLB6;Q96DF0	.;DNLI3_HUMAN;.;.	R	26	ENSP00000367787:K26R;ENSP00000262327:K26R	ENSP00000262327:K26R	K	+	2	0	LIG3	30334214	0.006000	0.16342	0.001000	0.08648	0.010000	0.07245	0.535000	0.23114	0.403000	0.25479	-0.274000	0.10170	AAA		PASS	0.458	LIG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250330.3	NM_013975		17	120	17	120	---	---	---	---
PEX12	5193	broad.mit.edu	37	17	33904306	33904306	+	Missense_Mutation	SNP	G	G	C			TCGA-34-2608-01A-02D-1522-08	TCGA-34-2608-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3c90209b-b6f6-40b2-a374-6cd37d6d3895	ca1f5f6f-bef8-49af-8bd0-c8beb0c4c53b	g.chr17:33904306G>C	ENST00000225873.4	-	2	1038	c.431C>G	c.(430-432)tCt>tGt	p.S144C	RP11-1094M14.11_ENST00000592381.1_lincRNA	NM_000286.2	NP_000277.1	O00623	PEX12_HUMAN	peroxisomal biogenesis factor 12	144					peroxisome organization (GO:0007031)|protein import into peroxisome matrix (GO:0016558)|protein targeting to peroxisome (GO:0006625)	integral component of peroxisomal membrane (GO:0005779)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	protein C-terminus binding (GO:0008022)|zinc ion binding (GO:0008270)	p.S144C(1)		cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|liver(1)|lung(8)	18				UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		GGGATGAATAGAATATTCATC	0.453																																						uc002hjp.2																			1	Substitution - Missense(1)		lung(1)		0						c.(430-432)TCT>TGT		peroxisomal biogenesis factor 12							71.0	77.0	75.0					17																	33904306		2203	4300	6503	SO:0001583	missense	5193				protein import into peroxisome matrix	integral to peroxisomal membrane	protein C-terminus binding|zinc ion binding	g.chr17:33904306G>C	U91521	CCDS11296.1	17q21.1	2011-02-10			ENSG00000108733	ENSG00000108733			8854	protein-coding gene	gene with protein product		601758				9090384	Standard	NM_000286		Approved		uc002hjp.3	O00623	OTTHUMG00000132951	ENST00000225873.4:c.431C>G	17.37:g.33904306G>C	ENSP00000225873:p.Ser144Cys						p.S144C	NM_000286	NP_000277	O00623	PEX12_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)	2	1047	-			144			Cytoplasmic (Potential).		B2R6M2	Missense_Mutation	SNP	ENST00000225873.4	37	c.431C>G	CCDS11296.1	.	.	.	.	.	.	.	.	.	.	G	25.1	4.601682	0.87055	.	.	ENSG00000108733	ENST00000424525;ENST00000225873	D	0.83506	-1.73	5.46	5.46	0.80206	Pex, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.90679	0.7076	M	0.71581	2.175	0.80722	D	1	D	0.89917	1.0	D	0.79108	0.992	D	0.91195	0.4987	10	0.66056	D	0.02	-16.9411	18.3052	0.90177	0.0:0.0:1.0:0.0	.	144	O00623	PEX12_HUMAN	C	144	ENSP00000225873:S144C	ENSP00000225873:S144C	S	-	2	0	PEX12	30928419	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.991000	0.93514	2.568000	0.86640	0.650000	0.86243	TCT		PASS	0.453	PEX12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256489.2	NM_000286		14	249	14	249	---	---	---	---
KRT28	162605	broad.mit.edu	37	17	38953217	38953217	+	Missense_Mutation	SNP	C	C	A			TCGA-34-2608-01A-02D-1522-08	TCGA-34-2608-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3c90209b-b6f6-40b2-a374-6cd37d6d3895	ca1f5f6f-bef8-49af-8bd0-c8beb0c4c53b	g.chr17:38953217C>A	ENST00000306658.7	-	5	994	c.929G>T	c.(928-930)aGg>aTg	p.R310M		NM_181535.3	NP_853513.2			keratin 28									p.R310M(1)		NS(1)|breast(3)|endometrium(1)|kidney(1)|large_intestine(4)|lung(14)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	30		Breast(137;0.000301)				CAGGGTGCGCCTCATCTCGGT	0.622																																					Melanoma(19;789 869 15380 26882 39836)	uc002hvh.1																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(928-930)AGG>ATG		keratin 25D							62.0	66.0	64.0					17																	38953217		2203	4300	6503	SO:0001583	missense	162605					cytoplasm|intermediate filament	structural molecule activity	g.chr17:38953217C>A	AK129827	CCDS11376.1	17q21.2	2013-01-16	2006-07-17	2006-07-17	ENSG00000173908	ENSG00000173908		"""-"", ""Intermediate filaments type I, keratins (acidic)"""	30842	protein-coding gene	gene with protein product			"""keratin 25D"""	KRT25D		16831889	Standard	NM_181535		Approved		uc002hvh.1	Q7Z3Y7	OTTHUMG00000133365	ENST00000306658.7:c.929G>T	17.37:g.38953217C>A	ENSP00000305263:p.Arg310Met						p.R310M	NM_181535	NP_853513	Q7Z3Y7	K1C28_HUMAN			5	995	-		Breast(137;0.000301)	310			Rod.|Coil 2.			Missense_Mutation	SNP	ENST00000306658.7	37	c.929G>T	CCDS11376.1	.	.	.	.	.	.	.	.	.	.	C	16.14	3.037977	0.54896	.	.	ENSG00000173908	ENST00000306658	D	0.92099	-2.97	5.21	0.533	0.17121	Filament (1);	0.360943	0.23409	N	0.048490	D	0.94598	0.8259	M	0.85710	2.77	0.26676	N	0.971628	D	0.58970	0.984	P	0.61275	0.886	D	0.88858	0.3324	10	0.87932	D	0	.	8.8587	0.35245	0.0:0.4325:0.0:0.5675	.	310	Q7Z3Y7	K1C28_HUMAN	M	310	ENSP00000305263:R310M	ENSP00000305263:R310M	R	-	2	0	KRT28	36206743	0.023000	0.18921	0.920000	0.36463	0.392000	0.30506	0.178000	0.16820	0.085000	0.17107	-0.469000	0.05056	AGG		PASS	0.622	KRT28-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257201.2	NM_181535		25	139	25	139	---	---	---	---
DHX8	1659	broad.mit.edu	37	17	41570101	41570101	+	Nonsense_Mutation	SNP	C	C	T			TCGA-34-2608-01A-02D-1522-08	TCGA-34-2608-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3c90209b-b6f6-40b2-a374-6cd37d6d3895	ca1f5f6f-bef8-49af-8bd0-c8beb0c4c53b	g.chr17:41570101C>T	ENST00000262415.3	+	6	628	c.556C>T	c.(556-558)Cga>Tga	p.R186*	DHX8_ENST00000540306.1_Nonsense_Mutation_p.R186*	NM_004941.1	NP_004932.1	Q14562	DHX8_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 8	186	Arg/Ser-rich (RS domain).				ATP catabolic process (GO:0006200)|mRNA splicing, via spliceosome (GO:0000398)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|nucleus (GO:0005634)|spliceosomal complex (GO:0005681)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)	p.R186*(2)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	42		Breast(137;0.00908)		BRCA - Breast invasive adenocarcinoma(366;0.08)		aaaccgagatcgagacagaga	0.483																																					NSCLC(56;1548 1661 49258 49987)	uc002idu.1																			2	Substitution - Nonsense(2)	p.R186Q(1)	large_intestine(1)|lung(1)	ovary(2)|kidney(1)|pancreas(1)	4						c.(556-558)CGA>TGA		DEAH (Asp-Glu-Ala-His) box polypeptide 8							105.0	101.0	102.0					17																	41570101		2203	4300	6503	SO:0001587	stop_gained	1659					catalytic step 2 spliceosome	ATP binding|ATP-dependent RNA helicase activity|protein binding|RNA binding	g.chr17:41570101C>T	D50487	CCDS11464.1	17q21.31	2005-08-19	2003-06-13	2003-06-20		ENSG00000067596		"""DEAH-boxes"""	2749	protein-coding gene	gene with protein product		600396	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 8 (RNA helicase)"""	DDX8		7935475	Standard	NM_004941		Approved	HRH1, PRP22, PRPF22	uc002idu.1	Q14562		ENST00000262415.3:c.556C>T	17.37:g.41570101C>T	ENSP00000262415:p.Arg186*					DHX8_uc010wif.1_Nonsense_Mutation_p.R95*|DHX8_uc010wig.1_Nonsense_Mutation_p.R186*	p.R186*	NM_004941	NP_004932	Q14562	DHX8_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.08)	6	629	+		Breast(137;0.00908)	186			Arg/Ser-rich (RS domain).			Nonsense_Mutation	SNP	ENST00000262415.3	37	c.556C>T	CCDS11464.1	.	.	.	.	.	.	.	.	.	.	C	11.50	1.657570	0.29425	.	.	ENSG00000067596	ENST00000540306;ENST00000262415	.	.	.	3.79	-4.73	0.03259	.	0.000000	0.41938	D	0.000783	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.10636	T	0.68	.	14.2138	0.65781	0.7723:0.2277:0.0:0.0	.	.	.	.	X	186	.	ENSP00000262415:R186X	R	+	1	2	DHX8	38925627	0.004000	0.15560	0.001000	0.08648	0.245000	0.25701	0.013000	0.13310	-0.808000	0.04387	-0.397000	0.06425	CGA		PASS	0.483	DHX8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453485.1			15	117	15	117	---	---	---	---
TBX21	30009	broad.mit.edu	37	17	45822501	45822501	+	Silent	SNP	C	C	A			TCGA-34-2608-01A-02D-1522-08	TCGA-34-2608-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3c90209b-b6f6-40b2-a374-6cd37d6d3895	ca1f5f6f-bef8-49af-8bd0-c8beb0c4c53b	g.chr17:45822501C>A	ENST00000177694.1	+	6	1588	c.1377C>A	c.(1375-1377)ggC>ggA	p.G459G		NM_013351.1	NP_037483.1	Q9UL17	TBX21_HUMAN	T-box 21	459					cellular response to organic substance (GO:0071310)|lymphocyte migration (GO:0072676)|multicellular organismal development (GO:0007275)|positive regulation of isotype switching to IgG isotypes (GO:0048304)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|response to virus (GO:0009615)|T cell differentiation (GO:0030217)|transcription, DNA-templated (GO:0006351)	neuronal cell body (GO:0043025)|nucleus (GO:0005634)	sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)	p.G459G(1)		NS(1)|endometrium(1)|large_intestine(3)|lung(14)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	22						TGGAACCCGGCCCTGGAGGCT	0.672																																						uc002ilv.1																			1	Substitution - coding silent(1)		lung(1)		0						c.(1375-1377)GGC>GGA		T-box 21							27.0	30.0	29.0					17																	45822501		2203	4299	6502	SO:0001819	synonymous_variant	30009				lymphocyte migration|multicellular organismal development|positive regulation of transcription, DNA-dependent|response to virus	nucleus	sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	g.chr17:45822501C>A	AF093098	CCDS11514.1	17q21.2	2008-06-23				ENSG00000073861		"""T-boxes"""	11599	protein-coding gene	gene with protein product		604895					Standard	NM_013351		Approved	TBLYM, T-bet	uc002ilv.1	Q9UL17		ENST00000177694.1:c.1377C>A	17.37:g.45822501C>A							p.G459G	NM_013351	NP_037483	Q9UL17	TBX21_HUMAN			6	1588	+			459						Silent	SNP	ENST00000177694.1	37	c.1377C>A	CCDS11514.1																																																																																				PASS	0.672	TBX21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441365.1	NM_013351		7	49	7	49	---	---	---	---
SRSF1	6426	broad.mit.edu	37	17	56083173	56083173	+	Missense_Mutation	SNP	T	T	C			TCGA-34-2608-01A-02D-1522-08	TCGA-34-2608-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3c90209b-b6f6-40b2-a374-6cd37d6d3895	ca1f5f6f-bef8-49af-8bd0-c8beb0c4c53b	g.chr17:56083173T>C	ENST00000258962.4	-	3	749	c.541A>G	c.(541-543)Aga>Gga	p.R181G	SRSF1_ENST00000582730.2_Missense_Mutation_p.R181G|SRSF1_ENST00000584773.1_Missense_Mutation_p.R181G|RP11-159D12.5_ENST00000578794.1_5'Flank|SRSF1_ENST00000585096.1_Intron|SRSF1_ENST00000581497.1_5'Flank	NM_006924.4	NP_008855.1	Q07955	SRSF1_HUMAN	serine/arginine-rich splicing factor 1	181	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.				cardiac muscle contraction (GO:0060048)|gene expression (GO:0010467)|in utero embryonic development (GO:0001701)|mRNA 3'-end processing (GO:0031124)|mRNA 5'-splice site recognition (GO:0000395)|mRNA export from nucleus (GO:0006406)|mRNA processing (GO:0006397)|mRNA splice site selection (GO:0006376)|mRNA splicing, via spliceosome (GO:0000398)|regulation of mRNA splicing, via spliceosome (GO:0048024)|regulation of mRNA stability (GO:0043488)|regulation of transcription, DNA-templated (GO:0006355)|regulation of translation (GO:0006417)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)	p.R181G(1)		breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						TCATGAGATCTAAACTTAGTG	0.398																																						uc002ivi.2																			1	Substitution - Missense(1)		lung(1)		0						c.(541-543)AGA>GGA		splicing factor, arginine/serine-rich 1 isoform							141.0	120.0	127.0					17																	56083173		2203	4300	6503	SO:0001583	missense	6426				mRNA 3'-end processing|mRNA export from nucleus|nuclear mRNA 5'-splice site recognition|termination of RNA polymerase II transcription	catalytic step 2 spliceosome|cytoplasm|nuclear speck	nucleotide binding|RNA binding	g.chr17:56083173T>C		CCDS11600.1, CCDS58580.1	17q22	2013-02-12	2010-06-22	2010-06-22	ENSG00000136450	ENSG00000136450		"""Serine/arginine-rich splicing factors"", ""RNA binding motif (RRM) containing"""	10780	protein-coding gene	gene with protein product	"""splicing factor 2"", ""pre-mRNA-splicing factor SF2, P33 subunit"", ""alternate splicing factor"", ""SR splicing factor 1"""	600812	"""splicing factor, arginine/serine-rich 1"""	SFRS1		8530103, 20516191	Standard	NM_006924		Approved	ASF, SF2, SRp30a, SF2p33, MGC5228	uc002ivi.3	Q07955		ENST00000258962.4:c.541A>G	17.37:g.56083173T>C	ENSP00000258962:p.Arg181Gly					SFRS1_uc002ivj.2_Missense_Mutation_p.R181G	p.R181G	NM_006924	NP_008855	Q07955	SRSF1_HUMAN		LUAD - Lung adenocarcinoma(1115;0.247)	3	750	-		Colorectal(1115;0.0691)	181			RRM 2.		B2R6Z7|D3DTZ3|Q13809	Missense_Mutation	SNP	ENST00000258962.4	37	c.541A>G	CCDS11600.1	.	.	.	.	.	.	.	.	.	.	T	12.68	2.011373	0.35511	.	.	ENSG00000136450	ENST00000258962	T	0.14766	2.48	5.65	5.65	0.86999	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.000000	0.85682	D	0.000000	T	0.33818	0.0876	L	0.55103	1.725	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.80764	0.988;0.994	T	0.02015	-1.1229	10	0.62326	D	0.03	.	16.1864	0.81955	0.0:0.0:0.0:1.0	.	213;181	Q59FA2;Q07955	.;SRSF1_HUMAN	G	181	ENSP00000258962:R181G	ENSP00000258962:R181G	R	-	1	2	SRSF1	53438172	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	6.069000	0.71209	2.281000	0.76405	0.528000	0.53228	AGA		PASS	0.398	SRSF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443335.1	NM_006924		20	163	20	163	---	---	---	---
FADS6	283985	broad.mit.edu	37	17	72874468	72874468	+	Missense_Mutation	SNP	C	C	T	rs372010502		TCGA-34-2608-01A-02D-1522-08	TCGA-34-2608-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3c90209b-b6f6-40b2-a374-6cd37d6d3895	ca1f5f6f-bef8-49af-8bd0-c8beb0c4c53b	g.chr17:72874468C>T	ENST00000310226.6	-	6	1059	c.1045G>A	c.(1045-1047)Ggg>Agg	p.G349R		NM_178128.3	NP_835229.2	Q8N9I5	FADS6_HUMAN	fatty acid desaturase 6	355					fatty acid biosynthetic process (GO:0006633)	integral component of membrane (GO:0016021)	oxidoreductase activity (GO:0016491)	p.G354R(1)|p.G349R(1)		endometrium(3)|kidney(1)|lung(4)	8	all_lung(278;0.172)|Lung NSC(278;0.207)					CATTACAGCCCCACAAGCTCA	0.647																																						uc002jmd.1																			2	Substitution - Missense(2)		lung(2)		0						c.(1045-1047)GGG>AGG		fatty acid desaturase domain family, member 6		C	ARG/GLY	0,3958		0,0,1979	40.0	43.0	42.0		1045	5.5	1.0	17		42	1,8315		0,1,4157	no	missense	FADS6	NM_178128.3	125	0,1,6136	TT,TC,CC		0.012,0.0,0.0081	probably-damaging	349/351	72874468	1,12273	1979	4158	6137	SO:0001583	missense	283985				fatty acid biosynthetic process	integral to membrane	oxidoreductase activity	g.chr17:72874468C>T	AK094411	CCDS54163.1	17q25.1	2014-07-17	2013-01-25			ENSG00000172782		"""Fatty acid desaturases"""	30459	protein-coding gene	gene with protein product			"""fatty acid desaturase domain family, member 6"""				Standard	XM_005257224		Approved		uc002jmd.1	Q8N9I5		ENST00000310226.6:c.1045G>A	17.37:g.72874468C>T	ENSP00000307821:p.Gly349Arg					FADS6_uc010wrn.1_Missense_Mutation_p.G203R	p.G349R	NM_178128	NP_835229	Q8N9I5	FADS6_HUMAN			6	1057	-	all_lung(278;0.172)|Lung NSC(278;0.207)		355					Q17RQ7|Q6XYE1	Missense_Mutation	SNP	ENST00000310226.6	37	c.1045G>A	CCDS54163.1	.	.	.	.	.	.	.	.	.	.	C	25.0	4.590818	0.86851	0.0	1.2E-4	ENSG00000172782	ENST00000310226;ENST00000413142	.	.	.	5.49	5.49	0.81192	.	0.054282	0.64402	D	0.000001	T	0.77611	0.4156	L	0.58101	1.795	0.58432	D	0.999994	D;D	0.89917	1.0;1.0	D;D	0.77557	0.99;0.982	T	0.78819	-0.2054	9	0.72032	D	0.01	-27.737	19.3767	0.94512	0.0:1.0:0.0:0.0	.	203;355	B4DEP0;Q8N9I5	.;FADS6_HUMAN	R	349;203	.	ENSP00000307821:G349R	G	-	1	0	FADS6	70386063	1.000000	0.71417	1.000000	0.80357	0.422000	0.31414	6.909000	0.75735	2.587000	0.87381	0.655000	0.94253	GGG		PASS	0.647	FADS6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445219.1			6	18	6	18	---	---	---	---
NOTUM	147111	broad.mit.edu	37	17	79911086	79911086	+	Nonsense_Mutation	SNP	C	C	T			TCGA-34-2608-01A-02D-1522-08	TCGA-34-2608-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3c90209b-b6f6-40b2-a374-6cd37d6d3895	ca1f5f6f-bef8-49af-8bd0-c8beb0c4c53b	g.chr17:79911086C>T	ENST00000409678.3	-	11	1625	c.1242G>A	c.(1240-1242)tgG>tgA	p.W414*		NM_178493.5	NP_848588.3	Q6P988	NOTUM_HUMAN	notum pectinacetylesterase homolog (Drosophila)	414						extracellular region (GO:0005576)	hydrolase activity (GO:0016787)	p.W348*(1)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	15	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0382)			GGCTCCTGTCCCAGCAGTGCA	0.672																																						uc010wvg.1																			1	Substitution - Nonsense(1)		lung(1)		0						c.(1240-1242)TGG>TGA		notum pectinacetylesterase homolog precursor							20.0	21.0	21.0					17																	79911086		2202	4297	6499	SO:0001587	stop_gained	147111					extracellular region	hydrolase activity	g.chr17:79911086C>T	BC060882	CCDS32771.2	17q25.3	2008-02-05			ENSG00000185269	ENSG00000185269			27106	protein-coding gene	gene with protein product		609847					Standard	NM_178493		Approved		uc010wvg.2	Q6P988	OTTHUMG00000154416	ENST00000409678.3:c.1242G>A	17.37:g.79911086C>T	ENSP00000387310:p.Trp414*						p.W414*	NM_178493	NP_848588	Q6P988	NOTUM_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0114)|OV - Ovarian serous cystadenocarcinoma(97;0.0382)		11	1514	-	all_neural(118;0.0878)|Ovarian(332;0.12)		414					Q8N410|Q8NI82	Nonsense_Mutation	SNP	ENST00000409678.3	37	c.1242G>A	CCDS32771.2	.	.	.	.	.	.	.	.	.	.	C	41	8.725439	0.98929	.	.	ENSG00000185269	ENST00000409678	.	.	.	4.97	4.97	0.65823	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	18.2126	0.89876	0.0:1.0:0.0:0.0	.	.	.	.	X	414	.	ENSP00000387310:W414X	W	-	3	0	NOTUM	77504376	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	7.312000	0.78968	2.281000	0.76405	0.637000	0.83480	TGG		PASS	0.672	NOTUM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335123.2	NM_178493		3	31	3	31	---	---	---	---
PTPRM	5797	broad.mit.edu	37	18	7888314	7888314	+	Missense_Mutation	SNP	C	C	G			TCGA-34-2608-01A-02D-1522-08	TCGA-34-2608-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3c90209b-b6f6-40b2-a374-6cd37d6d3895	ca1f5f6f-bef8-49af-8bd0-c8beb0c4c53b	g.chr18:7888314C>G	ENST00000332175.8	+	3	1444	c.407C>G	c.(406-408)cCa>cGa	p.P136R	PTPRM_ENST00000400053.4_Missense_Mutation_p.P74R|PTPRM_ENST00000580170.1_Missense_Mutation_p.P136R|PTPRM_ENST00000400060.4_Missense_Mutation_p.P136R	NM_002845.3	NP_002836.3	P28827	PTPRM_HUMAN	protein tyrosine phosphatase, receptor type, M	136	MAM. {ECO:0000255|PROSITE- ProRule:PRU00128}.				homophilic cell adhesion (GO:0007156)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|neuron projection development (GO:0031175)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of vasodilation (GO:0045909)|protein dephosphorylation (GO:0006470)|response to drug (GO:0042493)|retina layer formation (GO:0010842)|retinal ganglion cell axon guidance (GO:0031290)|signal transduction (GO:0007165)	cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|perinuclear region of cytoplasm (GO:0048471)	cadherin binding (GO:0045296)|identical protein binding (GO:0042802)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)	p.P136R(1)		breast(3)|central_nervous_system(1)|cervix(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(32)|lung(25)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)	90		Colorectal(10;0.234)				TCTGGAGACCCAACACGTACA	0.438																																						uc002knn.3																			1	Substitution - Missense(1)		lung(1)	lung(3)|ovary(2)|central_nervous_system(1)	6						c.(406-408)CCA>CGA		protein tyrosine phosphatase, receptor type, M							80.0	81.0	81.0					18																	7888314		2203	4300	6503	SO:0001583	missense	5797				homophilic cell adhesion|negative regulation of angiogenesis|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|response to drug|retina layer formation|retinal ganglion cell axon guidance	cell-cell adherens junction|integral to plasma membrane|lamellipodium|perinuclear region of cytoplasm	cadherin binding|transmembrane receptor protein tyrosine phosphatase activity	g.chr18:7888314C>G	X58288	CCDS11840.1, CCDS58613.1	18p11.2	2013-02-11			ENSG00000173482	ENSG00000173482		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	9675	protein-coding gene	gene with protein product		176888		PTPRL1		1655529, 8404049	Standard	NM_002845		Approved	RPTPU, hR-PTPu	uc010dkv.3	P28827	OTTHUMG00000131575	ENST00000332175.8:c.407C>G	18.37:g.7888314C>G	ENSP00000331418:p.Pro136Arg					PTPRM_uc010dkv.2_Missense_Mutation_p.P136R	p.P136R	NM_002845	NP_002836	P28827	PTPRM_HUMAN			3	910	+		Colorectal(10;0.234)	136			MAM.|Extracellular (Potential).		A7MBN1|D3DUH8|J3QL11	Missense_Mutation	SNP	ENST00000332175.8	37	c.407C>G	CCDS11840.1	.	.	.	.	.	.	.	.	.	.	C	8.028	0.761037	0.15914	.	.	ENSG00000173482	ENST00000332175;ENST00000400060;ENST00000400053	T;T;T	0.02032	4.49;4.49;4.49	6.07	6.07	0.98685	Concanavalin A-like lectin/glucanase (1);MAM domain (3);	0.114255	0.64402	D	0.000009	T	0.02267	0.0070	N	0.02539	-0.55	0.80722	D	1	P;P	0.49253	0.921;0.921	P;P	0.50708	0.648;0.648	T	0.74025	-0.3797	10	0.12430	T	0.62	.	19.4308	0.94765	0.0:1.0:0.0:0.0	.	136;136	A7MBN1;P28827	.;PTPRM_HUMAN	R	136;136;74	ENSP00000331418:P136R;ENSP00000382933:P136R;ENSP00000382927:P74R	ENSP00000331418:P136R	P	+	2	0	PTPRM	7878314	0.138000	0.22547	0.972000	0.41901	0.938000	0.57974	1.709000	0.37909	2.885000	0.99019	0.655000	0.94253	CCA		PASS	0.438	PTPRM-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254456.1			11	191	11	191	---	---	---	---
DCC	1630	broad.mit.edu	37	18	50432441	50432441	+	Missense_Mutation	SNP	A	A	T			TCGA-34-2608-01A-02D-1522-08	TCGA-34-2608-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3c90209b-b6f6-40b2-a374-6cd37d6d3895	ca1f5f6f-bef8-49af-8bd0-c8beb0c4c53b	g.chr18:50432441A>T	ENST00000442544.2	+	3	1056	c.440A>T	c.(439-441)gAa>gTa	p.E147V	DCC_ENST00000412726.1_5'UTR	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	DCC netrin 1 receptor	147	Ig-like C2-type 2.				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)	p.E147V(1)		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)		TCACAGACAGAATCTGTCACA	0.433																																						uc002lfe.1																			1	Substitution - Missense(1)		lung(1)	skin(8)|ovary(6)|upper_aerodigestive_tract(1)|large_intestine(1)|central_nervous_system(1)	17						c.(439-441)GAA>GTA		netrin receptor DCC precursor							87.0	83.0	84.0					18																	50432441		2203	4300	6503	SO:0001583	missense	1630				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane		g.chr18:50432441A>T	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.440A>T	18.37:g.50432441A>T	ENSP00000389140:p.Glu147Val					DCC_uc010xdr.1_5'UTR	p.E147V	NM_005215	NP_005206	P43146	DCC_HUMAN		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)	3	1027	+		all_cancers(7;0.11)|all_epithelial(6;0.00126)	147			Extracellular (Potential).|Ig-like C2-type 2.			Missense_Mutation	SNP	ENST00000442544.2	37	c.440A>T	CCDS11952.1	.	.	.	.	.	.	.	.	.	.	A	15.23	2.770894	0.49680	.	.	ENSG00000187323	ENST00000442544;ENST00000304775	T	0.68025	-0.3	5.71	5.71	0.89125	Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.203516	0.40222	N	0.001142	T	0.68485	0.3006	L	0.46819	1.47	0.80722	D	1	B	0.23377	0.084	B	0.38500	0.275	T	0.68345	-0.5433	10	0.66056	D	0.02	.	14.9606	0.71153	1.0:0.0:0.0:0.0	.	147	P43146	DCC_HUMAN	V	147;80	ENSP00000389140:E147V	ENSP00000304146:E80V	E	+	2	0	DCC	48686439	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.424000	0.90267	2.171000	0.68590	0.533000	0.62120	GAA		PASS	0.433	DCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255996.3	NM_005215		12	117	12	117	---	---	---	---
LMAN1	3998	broad.mit.edu	37	18	57000330	57000330	+	Missense_Mutation	SNP	C	C	T			TCGA-34-2608-01A-02D-1522-08	TCGA-34-2608-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3c90209b-b6f6-40b2-a374-6cd37d6d3895	ca1f5f6f-bef8-49af-8bd0-c8beb0c4c53b	g.chr18:57000330C>T	ENST00000251047.5	-	11	2084	c.1367G>A	c.(1366-1368)cGa>cAa	p.R456Q		NM_005570.3	NP_005561.1	P49257	LMAN1_HUMAN	lectin, mannose-binding, 1	456					blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum organization (GO:0007029)|ER to Golgi vesicle-mediated transport (GO:0006888)|Golgi organization (GO:0007030)|positive regulation of organelle organization (GO:0010638)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)|protein transport (GO:0015031)	endoplasmic reticulum membrane (GO:0005789)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|ER to Golgi transport vesicle membrane (GO:0012507)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|sarcomere (GO:0030017)	mannose binding (GO:0005537)|metal ion binding (GO:0046872)|unfolded protein binding (GO:0051082)	p.R456Q(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(5)|ovary(1)|prostate(1)|skin(1)	16		Colorectal(73;0.0946)			Antihemophilic Factor(DB00025)	TACCATATTTCGCTGCACTAA	0.383																																						uc002lhz.2																			1	Substitution - Missense(1)		lung(1)	skin(1)	1						c.(1366-1368)CGA>CAA		lectin, mannose-binding, 1 precursor	Antihemophilic Factor(DB00025)						77.0	76.0	76.0					18																	57000330		2203	4300	6503	SO:0001583	missense	3998				blood coagulation|ER to Golgi vesicle-mediated transport|post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine|protein transport	endoplasmic reticulum membrane|ER to Golgi transport vesicle membrane|ER-Golgi intermediate compartment membrane|Golgi membrane|integral to membrane	mannose binding|metal ion binding|unfolded protein binding	g.chr18:57000330C>T	X71661	CCDS11974.1	18q21.3-q22	2014-09-17	2002-08-30		ENSG00000074695	ENSG00000074695			6631	protein-coding gene	gene with protein product	"""endoplasmic reticulum-golgi intermediate compartment protein 53"""	601567	"""coagulation factor V-factor VIII combined deficiency"""	F5F8D		9546392, 8854877	Standard	NM_005570		Approved	MR60, ERGIC-53, ERGIC53, gp58, MCFD1, FMFD1	uc002lhz.3	P49257	OTTHUMG00000132758	ENST00000251047.5:c.1367G>A	18.37:g.57000330C>T	ENSP00000251047:p.Arg456Gln						p.R456Q	NM_005570	NP_005561	P49257	LMAN1_HUMAN			11	1399	-		Colorectal(73;0.0946)	456			Lumenal (Potential).		Q12895|Q8N5I7|Q9UQG1|Q9UQG2|Q9UQG3|Q9UQG4|Q9UQG5|Q9UQG6|Q9UQG7|Q9UQG8|Q9UQG9|Q9UQH0|Q9UQH1|Q9UQH2	Missense_Mutation	SNP	ENST00000251047.5	37	c.1367G>A	CCDS11974.1	.	.	.	.	.	.	.	.	.	.	C	11.18	1.561692	0.27915	.	.	ENSG00000074695	ENST00000251047	T	0.57107	0.42	5.78	4.91	0.64330	.	0.130118	0.49916	D	0.000130	T	0.46190	0.1380	M	0.64997	1.995	0.50313	D	0.999866	B	0.28783	0.222	B	0.21708	0.036	T	0.37709	-0.9694	10	0.23891	T	0.37	-11.2229	10.6358	0.45565	0.0:0.8526:0.0:0.1474	.	456	P49257	LMAN1_HUMAN	Q	456	ENSP00000251047:R456Q	ENSP00000251047:R456Q	R	-	2	0	LMAN1	55151310	1.000000	0.71417	0.903000	0.35520	0.073000	0.16967	4.631000	0.61304	1.461000	0.47929	-0.136000	0.14681	CGA		PASS	0.383	LMAN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256129.2	NM_005570		5	104	5	104	---	---	---	---
SHC2	25759	broad.mit.edu	37	19	425173	425173	+	Silent	SNP	C	C	T			TCGA-34-2608-01A-02D-1522-08	TCGA-34-2608-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3c90209b-b6f6-40b2-a374-6cd37d6d3895	ca1f5f6f-bef8-49af-8bd0-c8beb0c4c53b	g.chr19:425173C>T	ENST00000264554.6	-	10	1232	c.1233G>A	c.(1231-1233)gaG>gaA	p.E411E		NM_012435.2	NP_036567.2	P98077	SHC2_HUMAN	SHC (Src homology 2 domain containing) transforming protein 2	411	CH1.				activation of MAPK activity (GO:0000187)|insulin receptor signaling pathway (GO:0008286)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Ras protein signal transduction (GO:0007265)	cytosol (GO:0005829)		p.E772E(1)		endometrium(2)|kidney(1)|large_intestine(2)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	21		all_cancers(10;1.13e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)		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)		CATACAGGTGCTCCTCGTGGT	0.687																																						uc002loq.3																			1	Substitution - coding silent(1)		lung(1)		0						c.(1231-1233)GAG>GAA		SHC (Src homology 2 domain containing)							32.0	38.0	36.0					19																	425173		1908	4100	6008	SO:0001819	synonymous_variant	25759				insulin receptor signaling pathway|nerve growth factor receptor signaling pathway|Ras protein signal transduction	cytosol		g.chr19:425173C>T	AB001451	CCDS45891.1	19p13.3	2013-02-14				ENSG00000129946		"""SH2 domain containing"""	29869	protein-coding gene	gene with protein product	"""neuronal Shc adaptor homolog"""	605217				7527937, 9507002	Standard	NM_012435		Approved	SLI, SCK, SHCB	uc002loq.4	P98077		ENST00000264554.6:c.1233G>A	19.37:g.425173C>T						SHC2_uc002lop.3_Silent_p.E152E	p.E411E	NM_012435	NP_036567	P98077	SHC2_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)	10	1233	-		all_cancers(10;1.13e-36)|all_epithelial(18;1.46e-23)|Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.1e-06)|all_lung(49;1.55e-06)|Breast(49;4.08e-05)|Hepatocellular(1079;0.137)|Renal(1328;0.228)	411			CH1.		O60230|Q9NPL5|Q9UCX4	Silent	SNP	ENST00000264554.6	37	c.1233G>A	CCDS45891.1																																																																																				PASS	0.687	SHC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451840.3			12	58	12	58	---	---	---	---
AD000091.2	0	broad.mit.edu	37	19	15726540	15726540	+	lincRNA	SNP	C	C	T	rs368805115		TCGA-34-2608-01A-02D-1522-08	TCGA-34-2608-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3c90209b-b6f6-40b2-a374-6cd37d6d3895	ca1f5f6f-bef8-49af-8bd0-c8beb0c4c53b	g.chr19:15726540C>T	ENST00000589196.2	-	0	0				CYP4F8_ENST00000441682.2_RNA														p.T38I(1)									CTGGCCTGGACCTATGCCTTC	0.677																																						uc002nbi.2																			1	Substitution - Missense(1)		lung(1)	large_intestine(1)	1						c.(112-114)ACC>ATC		cytochrome P450, family 4, subfamily F,							47.0	54.0	51.0					19																	15726540		2203	4300	6503			11283				prostaglandin metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	alkane 1-monooxygenase activity|aromatase activity|electron carrier activity|heme binding|oxygen binding|protein binding	g.chr19:15726540C>T																													19.37:g.15726540C>T						CYP4F8_uc010xoi.1_Missense_Mutation_p.T38I|CYP4F8_uc010xoj.1_5'UTR	p.T38I	NM_007253	NP_009184	P98187	CP4F8_HUMAN			2	177	+			38						Missense_Mutation	SNP	ENST00000589196.2	37	c.113C>T		.	.	.	.	.	.	.	.	.	.	c	0.246	-1.009704	0.02095	.	.	ENSG00000186526	ENST00000441682	.	.	.	2.32	-2.88	0.05682	.	0.571620	0.15972	N	0.235750	T	0.14227	0.0344	.	.	.	.	.	.	P;B	0.37731	0.607;0.002	B;B	0.30782	0.12;0.005	T	0.26643	-1.0097	7	0.21014	T	0.42	.	3.4082	0.07348	0.0:0.3791:0.2091:0.4118	.	38;38	B4DU32;P98187	.;CP4F8_HUMAN	I	38	.	ENSP00000409702:T38I	T	+	2	0	CYP4F8	15587540	0.000000	0.05858	0.000000	0.03702	0.021000	0.10359	-0.982000	0.03762	-0.606000	0.05746	0.313000	0.20887	ACC		PASS	0.677	AD000091.2-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000460896.2			7	47	7	47	---	---	---	---
ZNF493	284443	broad.mit.edu	37	19	21606161	21606161	+	Missense_Mutation	SNP	G	G	A			TCGA-34-2608-01A-02D-1522-08	TCGA-34-2608-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3c90209b-b6f6-40b2-a374-6cd37d6d3895	ca1f5f6f-bef8-49af-8bd0-c8beb0c4c53b	g.chr19:21606161G>A	ENST00000355504.4	+	2	582	c.316G>A	c.(316-318)Gga>Aga	p.G106R	ZNF493_ENST00000392288.2_Missense_Mutation_p.G234R|CTD-2561J22.3_ENST00000600810.1_Intron	NM_175910.6	NP_787106.4	Q6ZR52	ZN493_HUMAN	zinc finger protein 493	106					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)	p.G106R(1)|p.G234R(1)		central_nervous_system(2)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	30						AGTTCATACTGGAGAGAAATC	0.363																																						uc002npx.2																			2	Substitution - Missense(2)		lung(2)	ovary(1)	1						c.(316-318)GGA>AGA		zinc finger protein 493 isoform 1							40.0	44.0	42.0					19																	21606161		2198	4293	6491	SO:0001583	missense	284443				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:21606161G>A	AK093823, BC006408, BC022394	CCDS12412.1, CCDS42536.1, CCDS12411.1	19p12	2013-01-08			ENSG00000196268	ENSG00000196268		"""Zinc fingers, C2H2-type"", ""-"""	23708	protein-coding gene	gene with protein product							Standard	NM_001076678		Approved	FLJ36504	uc002npw.3	Q6ZR52	OTTHUMG00000141297	ENST00000355504.4:c.316G>A	19.37:g.21606161G>A	ENSP00000347691:p.Gly106Arg					ZNF493_uc002npw.2_Missense_Mutation_p.G234R|ZNF493_uc002npy.2_Missense_Mutation_p.G106R	p.G106R	NM_175910	NP_787106	Q6ZR52	ZN493_HUMAN			2	596	+			106					G5E974|Q59GM3|Q6ZSF6|Q8N1Z6|Q8N965|Q9BR99	Missense_Mutation	SNP	ENST00000355504.4	37	c.316G>A	CCDS12412.1	.	.	.	.	.	.	.	.	.	.	N	11.61	1.690360	0.29962	.	.	ENSG00000196268	ENST00000392288;ENST00000355504	T;T	0.20738	2.05;4.72	0.985	0.985	0.19779	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.31451	0.0797	L	0.54965	1.715	0.80722	D	1	B;D	0.63046	0.158;0.992	B;P	0.60068	0.142;0.868	T	0.05289	-1.0894	9	0.59425	D	0.04	.	7.3463	0.26666	0.0:0.0:1.0:0.0	.	106;234	Q6ZR52;Q6ZR52-2	ZN493_HUMAN;.	R	234;106	ENSP00000376110:G234R;ENSP00000347691:G106R	ENSP00000347691:G106R	G	+	1	0	ZNF493	21398001	0.106000	0.21978	0.049000	0.19019	0.047000	0.14425	2.847000	0.48270	0.399000	0.25367	0.404000	0.27445	GGA		PASS	0.363	ZNF493-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000280563.1	NM_175910		6	125	6	125	---	---	---	---
ZNF676	163223	broad.mit.edu	37	19	22379425	22379425	+	Missense_Mutation	SNP	T	T	A			TCGA-34-2608-01A-02D-1522-08	TCGA-34-2608-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3c90209b-b6f6-40b2-a374-6cd37d6d3895	ca1f5f6f-bef8-49af-8bd0-c8beb0c4c53b	g.chr19:22379425T>A	ENST00000397121.2	-	1	328	c.11A>T	c.(10-12)aAc>aTc	p.N4I		NM_001001411.2	NP_001001411.2	Q8N7Q3	ZN676_HUMAN	zinc finger protein 676	4	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.N4I(1)		NS(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(49)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	67		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)				GTTTCTGTAGTTCTCTAACAT	0.403																																						uc002nqs.1																			1	Substitution - Missense(1)		lung(1)		0						c.(10-12)AAC>ATC		zinc finger protein 676							134.0	145.0	141.0					19																	22379425		2203	4300	6503	SO:0001583	missense	163223				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:22379425T>A	AK097798	CCDS42539.1	19p12	2013-01-08				ENSG00000196109		"""Zinc fingers, C2H2-type"""	20429	protein-coding gene	gene with protein product							Standard	NM_001001411		Approved		uc002nqs.1	Q8N7Q3		ENST00000397121.2:c.11A>T	19.37:g.22379425T>A	ENSP00000380310:p.Asn4Ile						p.N4I	NM_001001411	NP_001001411	Q8N7Q3	ZN676_HUMAN			1	329	-		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.114)	4			KRAB.		A8MVX5	Missense_Mutation	SNP	ENST00000397121.2	37	c.11A>T	CCDS42539.1	.	.	.	.	.	.	.	.	.	.	.	11.42	1.633572	0.29068	.	.	ENSG00000196109	ENST00000397121	T	0.01133	5.29	0.793	0.793	0.18632	Krueppel-associated box (3);	.	.	.	.	T	0.07863	0.0197	H	0.96970	3.915	0.23260	N	0.998024	D	0.58970	0.984	P	0.62435	0.902	T	0.12344	-1.0551	9	0.87932	D	0	.	3.7137	0.08430	0.0:0.0:0.0:1.0	.	4	Q8N7Q3	ZN676_HUMAN	I	4	ENSP00000380310:N4I	ENSP00000380310:N4I	N	-	2	0	ZNF676	22171265	0.939000	0.31865	0.573000	0.28510	0.574000	0.36063	0.704000	0.25661	0.165000	0.19558	0.163000	0.16589	AAC		PASS	0.403	ZNF676-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464392.1	NM_001001411		49	331	49	331	---	---	---	---
ZNF99	7652	broad.mit.edu	37	19	22940373	22940373	+	Missense_Mutation	SNP	T	T	C			TCGA-34-2608-01A-02D-1522-08	TCGA-34-2608-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3c90209b-b6f6-40b2-a374-6cd37d6d3895	ca1f5f6f-bef8-49af-8bd0-c8beb0c4c53b	g.chr19:22940373T>C	ENST00000596209.1	-	4	2428	c.2338A>G	c.(2338-2340)Aag>Gag	p.K780E	CTC-451A6.4_ENST00000442497.2_lincRNA|ZNF99_ENST00000397104.3_Missense_Mutation_p.K689E	NM_001080409.2	NP_001073878.2	A8MXY4	ZNF99_HUMAN	zinc finger protein 99	780					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.K689E(3)		NS(1)|breast(1)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(20)|lung(55)|ovary(2)|prostate(10)|skin(5)|stomach(9)|upper_aerodigestive_tract(2)|urinary_tract(3)	124		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)				TGAATTATCTTATGTTTTCTA	0.343																																						uc010xrh.1																			3	Substitution - Missense(3)		prostate(1)|lung(1)|kidney(1)	ovary(1)|skin(1)	2						c.(2065-2067)AAG>GAG		zinc finger protein 99							32.0	34.0	34.0					19																	22940373		1947	4138	6085	SO:0001583	missense	7652							g.chr19:22940373T>C	BC021822	CCDS59369.1	19p12	2013-01-08	2006-01-17		ENSG00000213973	ENSG00000213973		"""Zinc fingers, C2H2-type"", ""-"""	13175	protein-coding gene	gene with protein product		603981	"""zinc finger protein 99 (F8281)"", ""chromosome 19 open reading frame 9"""	C19orf9			Standard	NM_001080409		Approved	MGC24986	uc021urt.1	A8MXY4		ENST00000596209.1:c.2338A>G	19.37:g.22940373T>C	ENSP00000472969:p.Lys780Glu						p.K689E	NM_001080409	NP_001073878					5	2065	-		Lung NSC(12;0.0207)|all_lung(12;0.0214)|all_epithelial(12;0.102)						M0R335	Missense_Mutation	SNP	ENST00000596209.1	37	c.2065A>G	CCDS59369.1	.	.	.	.	.	.	.	.	.	.	t	9.727	1.161345	0.21538	.	.	ENSG00000213973	ENST00000397104	T	0.18016	2.24	1.26	-2.52	0.06346	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.20495	0.0493	L	0.28400	0.85	0.09310	N	1	D	0.65815	0.995	D	0.65233	0.933	T	0.12837	-1.0532	9	0.54805	T	0.06	.	4.187	0.10402	0.1821:0.0:0.5141:0.3038	.	689	A8MXY4	ZNF99_HUMAN	E	689	ENSP00000380293:K689E	ENSP00000380293:K689E	K	-	1	0	ZNF99	22732213	0.000000	0.05858	0.002000	0.10522	0.007000	0.05969	-0.737000	0.04877	-0.939000	0.03709	0.313000	0.20887	AAG		PASS	0.343	ZNF99-001	NOVEL	not_best_in_genome_evidence|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000464591.1	XM_065124		3	127	3	127	---	---	---	---
ZNF181	339318	broad.mit.edu	37	19	35232076	35232076	+	Missense_Mutation	SNP	C	C	G			TCGA-34-2608-01A-02D-1522-08	TCGA-34-2608-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3c90209b-b6f6-40b2-a374-6cd37d6d3895	ca1f5f6f-bef8-49af-8bd0-c8beb0c4c53b	g.chr19:35232076C>G	ENST00000492450.1	+	4	879	c.790C>G	c.(790-792)Ccc>Gcc	p.P264A	ZNF181_ENST00000392232.3_Missense_Mutation_p.P308A|ZNF181_ENST00000459757.2_Missense_Mutation_p.P263A			Q2M3W8	ZN181_HUMAN	zinc finger protein 181	264					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.P200A(1)		endometrium(6)|kidney(2)|large_intestine(1)|lung(7)|ovary(2)|prostate(3)|skin(1)	22	all_lung(56;1.13e-07)|Lung NSC(56;1.81e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.138)			AGGAGAGAAGCCCTATGAATG	0.418																																						uc002nvu.3																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(790-792)CCC>GCC		zinc finger protein 181 isoform 1							86.0	95.0	92.0					19																	35232076		2202	4300	6502	SO:0001583	missense	339318				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:35232076C>G	BC104759, H54888	CCDS32990.2, CCDS46043.1	19q13.13	2013-01-08	2006-04-27		ENSG00000197841	ENSG00000197841		"""Zinc fingers, C2H2-type"", ""-"""	12971	protein-coding gene	gene with protein product		606741	"""zinc finger protein 181 (HHZ181)"""				Standard	NM_001029997		Approved	HHZ181, MGC44316	uc002nvu.3	Q2M3W8	OTTHUMG00000157508	ENST00000492450.1:c.790C>G	19.37:g.35232076C>G	ENSP00000420727:p.Pro264Ala					ZNF181_uc010xsa.1_Missense_Mutation_p.P263A|ZNF181_uc010xsb.1_Missense_Mutation_p.P263A|ZNF181_uc010xsc.1_Missense_Mutation_p.P199A	p.P264A	NM_001029997	NP_001025168	Q2M3W8	ZN181_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.138)		4	1253	+	all_lung(56;1.13e-07)|Lung NSC(56;1.81e-07)|Esophageal squamous(110;0.162)		264					B7ZKX3|Q49A75	Missense_Mutation	SNP	ENST00000492450.1	37	c.790C>G	CCDS32990.2	.	.	.	.	.	.	.	.	.	.	C	14.46	2.541633	0.45280	.	.	ENSG00000197841	ENST00000392232;ENST00000425140;ENST00000492450;ENST00000459757	T;T;T	0.16457	2.34;2.34;2.34	2.89	2.89	0.33648	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.40522	0.1120	M	0.85462	2.755	0.34865	D	0.743007	D;P	0.71674	0.998;0.951	P;P	0.61800	0.894;0.872	T	0.60707	-0.7210	9	0.66056	D	0.02	.	11.9919	0.53180	0.0:1.0:0.0:0.0	.	263;264	B7ZKX3;Q2M3W8	.;ZN181_HUMAN	A	308;263;264;263	ENSP00000376065:P308A;ENSP00000420727:P264A;ENSP00000419435:P263A	ENSP00000376065:P308A	P	+	1	0	ZNF181	39923916	0.005000	0.15991	0.995000	0.50966	0.745000	0.42441	1.276000	0.33156	1.922000	0.55676	0.491000	0.48974	CCC		PASS	0.418	ZNF181-002	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000349005.3	NM_001029997		10	245	10	245	---	---	---	---
MIR518A1	574488	broad.mit.edu	37	19	54233112	54233112	+	RNA	SNP	G	G	T	rs34416818		TCGA-34-2608-01A-02D-1522-08	TCGA-34-2608-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3c90209b-b6f6-40b2-a374-6cd37d6d3895	ca1f5f6f-bef8-49af-8bd0-c8beb0c4c53b	g.chr19:54233112G>T	ENST00000385068.1	+	0	0				MIR518E_ENST00000385252.1_RNA|MIR526A2_ENST00000390198.1_RNA	NR_030210.1				microRNA 518a-1																		TGACCCTCTAGAGGGAAGCGC	0.428																																						hsa-mir-518e|MI0003169																			0					0															89.0	84.0	85.0					19																	54233112		1568	3582	5150			574487							g.chr19:54233112G>T			19q13.42	2011-09-12		2008-12-18	ENSG00000207803	ENSG00000207803		"""ncRNAs / Micro RNAs"""	32120	non-coding RNA	RNA, micro				MIRN518A-1, MIRN518A1			Standard	NR_030210		Approved	hsa-mir-518a-1	uc021van.1				19.37:g.54233112G>T						MIR518A1_hsa-mir-518a-1|MI0003170_5'Flank										+									RNA	SNP	ENST00000385068.1	37	c.21G>T																																																																																					PASS	0.428	MIR518A1-201	KNOWN	basic	miRNA	miRNA		NR_030210		18	192	18	192	---	---	---	---
GALP	85569	broad.mit.edu	37	19	56688488	56688488	+	Missense_Mutation	SNP	C	C	A			TCGA-34-2608-01A-02D-1522-08	TCGA-34-2608-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3c90209b-b6f6-40b2-a374-6cd37d6d3895	ca1f5f6f-bef8-49af-8bd0-c8beb0c4c53b	g.chr19:56688488C>A	ENST00000357330.2	+	2	93	c.11C>A	c.(10-12)cCc>cAc	p.P4H	GALP_ENST00000590002.1_Missense_Mutation_p.P4H|GALP_ENST00000440823.1_Missense_Mutation_p.P4H	NM_033106.3	NP_149097.1	Q9UBC7	GALP_HUMAN	galanin-like peptide	4					behavioral response to starvation (GO:0042595)|defense response to bacterium (GO:0042742)|neuropeptide signaling pathway (GO:0007218)|regulation of appetite (GO:0032098)|response to insulin (GO:0032868)	extracellular region (GO:0005576)		p.P4H(1)		lung(4)	4		Colorectal(82;0.000147)|Ovarian(87;0.243)		GBM - Glioblastoma multiforme(193;0.0507)		ATGGCTCCTCCCTCCGTCCCC	0.642																																						uc002qmo.1																			1	Substitution - Missense(1)		lung(1)		0						c.(10-12)CCC>CAC		galanin-like peptide isoform 1 precursor							75.0	45.0	55.0					19																	56688488		2203	4300	6503	SO:0001583	missense	85569				neuropeptide signaling pathway	extracellular region	hormone activity	g.chr19:56688488C>A	AF188493	CCDS12940.1, CCDS46202.1	19q13.42	2013-02-26	2007-08-24			ENSG00000197487		"""Endogenous ligands"""	24840	protein-coding gene	gene with protein product		611178				10601261	Standard	NM_033106		Approved		uc002qmo.1	Q9UBC7		ENST00000357330.2:c.11C>A	19.37:g.56688488C>A	ENSP00000349884:p.Pro4His					GALP_uc010eti.2_Missense_Mutation_p.P4H	p.P4H	NM_033106	NP_149097	Q9UBC7	GALP_HUMAN		GBM - Glioblastoma multiforme(193;0.0507)	2	93	+		Colorectal(82;0.000147)|Ovarian(87;0.243)	4					A1KXL3	Missense_Mutation	SNP	ENST00000357330.2	37	c.11C>A	CCDS12940.1	.	.	.	.	.	.	.	.	.	.	C	5.248	0.231234	0.09969	.	.	ENSG00000197487	ENST00000357330;ENST00000440823	T	0.47869	0.83	2.43	-0.246	0.13022	.	.	.	.	.	T	0.41994	0.1183	N	0.24115	0.695	0.09310	N	1	D;D	0.63046	0.99;0.992	P;P	0.57548	0.823;0.615	T	0.26916	-1.0089	9	0.87932	D	0	.	3.5509	0.07845	0.0:0.5289:0.2763:0.1947	.	4;4	Q9UBC7-2;Q9UBC7	.;GALP_HUMAN	H	4	ENSP00000349884:P4H	ENSP00000349884:P4H	P	+	2	0	GALP	61380300	0.040000	0.19996	0.010000	0.14722	0.176000	0.22953	-0.175000	0.09825	-0.134000	0.11516	0.491000	0.48974	CCC		PASS	0.642	GALP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000457832.1	NM_033106		4	36	4	36	---	---	---	---
STK35	140901	broad.mit.edu	37	20	2097910	2097910	+	Silent	SNP	C	C	A			TCGA-34-2608-01A-02D-1522-08	TCGA-34-2608-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3c90209b-b6f6-40b2-a374-6cd37d6d3895	ca1f5f6f-bef8-49af-8bd0-c8beb0c4c53b	g.chr20:2097910C>A	ENST00000381482.3	+	3	1762	c.1491C>A	c.(1489-1491)tcC>tcA	p.S497S	STK35_ENST00000246032.3_Silent_p.S364S|STK35_ENST00000400064.3_Intron			Q8TDR2	STK35_HUMAN	serine/threonine kinase 35	497	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.					cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)	p.S497S(1)		large_intestine(2)|liver(2)|lung(6)|ovary(1)|prostate(2)	13						GCAGGACTTCCATGTCTGAGG	0.507																																						uc010gak.2																			1	Substitution - coding silent(1)		lung(1)	ovary(1)	1						c.(1489-1491)TCC>TCA		serine/threonine kinase 35							82.0	79.0	80.0					20																	2097910		2203	4300	6503	SO:0001819	synonymous_variant	140901					cytoplasm|nucleolus	ATP binding|protein serine/threonine kinase activity	g.chr20:2097910C>A	AL359916	CCDS13024.1, CCDS13024.2	20p13	2008-07-02			ENSG00000125834	ENSG00000125834			16254	protein-coding gene	gene with protein product	"""CLP-36 interacting kinase"""	609370				11973348	Standard	NM_080836		Approved	bA550O8.2, CLIK1	uc002wfw.4	Q8TDR2	OTTHUMG00000031688	ENST00000381482.3:c.1491C>A	20.37:g.2097910C>A						STK35_uc010zpu.1_Intron|STK35_uc002wfw.3_Silent_p.S364S	p.S497S	NM_080836	NP_543026	Q8TDR2	STK35_HUMAN			3	1491	+			497			Protein kinase.		B2RBM3|C7ENV8|Q2NKW6|Q5T3R1|Q5T3R2|Q96AB4|Q9BZ06	Silent	SNP	ENST00000381482.3	37	c.1491C>A	CCDS13024.2																																																																																				PASS	0.507	STK35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077574.3	NM_080836		37	113	37	113	---	---	---	---
TMC2	117532	broad.mit.edu	37	20	2616614	2616614	+	Silent	SNP	C	C	G			TCGA-34-2608-01A-02D-1522-08	TCGA-34-2608-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3c90209b-b6f6-40b2-a374-6cd37d6d3895	ca1f5f6f-bef8-49af-8bd0-c8beb0c4c53b	g.chr20:2616614C>G	ENST00000358864.1	+	18	2364	c.2349C>G	c.(2347-2349)tcC>tcG	p.S783S		NM_080751.2	NP_542789.2	Q8TDI7	TMC2_HUMAN	transmembrane channel-like 2	783					detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|vestibular reflex (GO:0060005)	integral component of membrane (GO:0016021)|stereocilium bundle tip (GO:0032426)	voltage-gated calcium channel activity (GO:0005245)	p.S783S(1)		NS(1)|breast(3)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	35						AAAGCCTTTCCCGAGCTAATG	0.458																																						uc002wgf.1																			1	Substitution - coding silent(1)		lung(1)	ovary(3)	3						c.(2347-2349)TCC>TCG		transmembrane cochlear-expressed protein 2							101.0	88.0	93.0					20																	2616614		2203	4300	6503	SO:0001819	synonymous_variant	117532					integral to membrane		g.chr20:2616614C>G	AF417580	CCDS13029.2	20p13	2010-08-05	2003-02-23		ENSG00000149488	ENSG00000149488			16527	protein-coding gene	gene with protein product		606707	"""transmembrane, cochlear expressed, 2"""	C20orf145		11850618, 12906855	Standard	XM_005260660		Approved	dJ686C3.3	uc002wgf.1	Q8TDI7	OTTHUMG00000031698	ENST00000358864.1:c.2349C>G	20.37:g.2616614C>G						TMC2_uc002wgg.1_Silent_p.S767S	p.S783S	NM_080751	NP_542789	Q8TDI7	TMC2_HUMAN			18	2364	+			783			Cytoplasmic (Potential).		Q5JXT0|Q5JXT1|Q6UWW4|Q6ZS41|Q8N9F3|Q9BYN2|Q9BYN3|Q9BYN4|Q9BYN5	Silent	SNP	ENST00000358864.1	37	c.2349C>G	CCDS13029.2																																																																																				PASS	0.458	TMC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077601.2			22	76	22	76	---	---	---	---
ZNF341	84905	broad.mit.edu	37	20	32328784	32328784	+	Missense_Mutation	SNP	G	G	C			TCGA-34-2608-01A-02D-1522-08	TCGA-34-2608-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3c90209b-b6f6-40b2-a374-6cd37d6d3895	ca1f5f6f-bef8-49af-8bd0-c8beb0c4c53b	g.chr20:32328784G>C	ENST00000375200.1	+	2	473	c.108G>C	c.(106-108)caG>caC	p.Q36H	ZNF341_ENST00000342427.2_Missense_Mutation_p.Q36H	NM_001282933.1	NP_001269862.1	Q9BYN7	ZN341_HUMAN	zinc finger protein 341	36					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.Q36H(1)		NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(3)|lung(8)|ovary(2)|prostate(3)|skin(1)|urinary_tract(3)	31						CGACAGGCCAGAGTGTCAATG	0.547																																						uc002wzy.2																			1	Substitution - Missense(1)		lung(1)	ovary(2)	2						c.(106-108)CAG>CAC		zinc finger protein 341							102.0	89.0	94.0					20																	32328784		2203	4300	6503	SO:0001583	missense	84905				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr20:32328784G>C	AK027550	CCDS13227.1, CCDS74719.1	20q11.22	2013-01-08			ENSG00000131061	ENSG00000131061		"""Zinc fingers, C2H2-type"""	15992	protein-coding gene	gene with protein product							Standard	NM_001282933		Approved	dJ553F4.3	uc002wzx.3	Q9BYN7	OTTHUMG00000032275	ENST00000375200.1:c.108G>C	20.37:g.32328784G>C	ENSP00000364346:p.Gln36His					ZNF341_uc002wzx.2_Missense_Mutation_p.Q36H|ZNF341_uc010geq.2_Missense_Mutation_p.R12T|ZNF341_uc010ger.2_RNA	p.Q36H	NM_032819	NP_116208	Q9BYN7	ZN341_HUMAN			2	128	+			36					A2RUF4|B2RXE5|B7ZM09|Q5JXM8|Q96ST5	Missense_Mutation	SNP	ENST00000375200.1	37	c.108G>C		.	.	.	.	.	.	.	.	.	.	G	13.23	2.173708	0.38413	.	.	ENSG00000131061	ENST00000342427;ENST00000375200	T;T	0.11930	2.98;2.73	5.27	4.07	0.47477	.	0.064020	0.64402	D	0.000006	T	0.20941	0.0504	L	0.32530	0.975	0.45648	D	0.998578	D;D	0.71674	0.996;0.998	P;D	0.65443	0.862;0.935	T	0.01626	-1.1309	10	0.72032	D	0.01	-20.8582	6.7161	0.23304	0.3362:0.0:0.6638:0.0	.	36;36	Q9BYN7;Q9BYN7-2	ZN341_HUMAN;.	H	36	ENSP00000344308:Q36H;ENSP00000364346:Q36H	ENSP00000344308:Q36H	Q	+	3	2	ZNF341	31792445	0.911000	0.30947	0.932000	0.37286	0.633000	0.38033	0.277000	0.18734	1.030000	0.39839	0.591000	0.81541	CAG		PASS	0.547	ZNF341-201	KNOWN	basic	protein_coding	protein_coding				18	86	18	86	---	---	---	---
KCNG1	3755	broad.mit.edu	37	20	49626384	49626384	+	Silent	SNP	G	G	A			TCGA-34-2608-01A-02D-1522-08	TCGA-34-2608-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3c90209b-b6f6-40b2-a374-6cd37d6d3895	ca1f5f6f-bef8-49af-8bd0-c8beb0c4c53b	g.chr20:49626384G>A	ENST00000371571.4	-	2	777	c.492C>T	c.(490-492)tgC>tgT	p.C164C	KCNG1_ENST00000506387.1_5'Flank|RP5-955M13.4_ENST00000424566.1_RNA|KCNG1_ENST00000396017.3_Silent_p.C164C	NM_002237.3	NP_002228.2	Q9UIX4	KCNG1_HUMAN	potassium voltage-gated channel, subfamily G, member 1	164					potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	intracellular membrane-bounded organelle (GO:0043231)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|potassium channel activity (GO:0005267)	p.C164C(1)		breast(1)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(7)|liver(1)|lung(11)|ovary(2)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	35						GGCGCTTGCAGCAGCCGTCCA	0.682																																						uc002xwa.3																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|central_nervous_system(1)	2						c.(490-492)TGC>TGT		potassium voltage-gated channel, subfamily G,							39.0	41.0	40.0					20																	49626384		2203	4298	6501	SO:0001819	synonymous_variant	3755					voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr20:49626384G>A	AF033383	CCDS13436.1	20q13	2011-07-05			ENSG00000026559	ENSG00000026559		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6248	protein-coding gene	gene with protein product		603788		KCNG		9434767, 16382104	Standard	NM_002237		Approved	Kv6.1, kH2, K13	uc002xwa.4	Q9UIX4	OTTHUMG00000032745	ENST00000371571.4:c.492C>T	20.37:g.49626384G>A						KCNG1_uc002xwb.2_Silent_p.C164C	p.C164C	NM_002237	NP_002228	Q9UIX4	KCNG1_HUMAN			2	787	-			164			Cytoplasmic (Potential).		A8K3S4|O43528|Q5JXL5|Q9BRC1	Silent	SNP	ENST00000371571.4	37	c.492C>T	CCDS13436.1																																																																																				PASS	0.682	KCNG1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079726.4	NM_002237		10	83	10	83	---	---	---	---
CTCFL	140690	broad.mit.edu	37	20	56098952	56098952	+	Nonsense_Mutation	SNP	G	G	A			TCGA-34-2608-01A-02D-1522-08	TCGA-34-2608-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3c90209b-b6f6-40b2-a374-6cd37d6d3895	ca1f5f6f-bef8-49af-8bd0-c8beb0c4c53b	g.chr20:56098952G>A	ENST00000608263.1	-	1	971	c.310C>T	c.(310-312)Cag>Tag	p.Q104*	CTCFL_ENST00000608903.1_Intron|CTCFL_ENST00000502686.2_Intron|CTCFL_ENST00000539382.1_Intron|CTCFL_ENST00000243914.3_Nonsense_Mutation_p.Q104*|CTCFL_ENST00000608858.1_Intron|CTCFL_ENST00000429804.3_Nonsense_Mutation_p.Q104*|CTCFL_ENST00000422869.2_Nonsense_Mutation_p.Q104*|CTCFL_ENST00000609232.1_Nonsense_Mutation_p.Q104*|CTCFL_ENST00000432255.2_Nonsense_Mutation_p.Q104*|CTCFL_ENST00000423479.3_Nonsense_Mutation_p.Q104*|CTCFL_ENST00000371196.2_Nonsense_Mutation_p.Q104*|CTCFL_ENST00000608440.1_Nonsense_Mutation_p.Q104*|CTCFL_ENST00000433949.3_Intron|CTCFL_ENST00000608158.1_Nonsense_Mutation_p.Q104*|CTCFL_ENST00000481655.2_Nonsense_Mutation_p.Q104*|CTCFL_ENST00000608425.1_Nonsense_Mutation_p.Q104*	NM_001269041.1	NP_001255970.1	Q8NI51	CTCFL_HUMAN	CCCTC-binding factor (zinc finger protein)-like	104					cell cycle (GO:0007049)|DNA methylation involved in gamete generation (GO:0043046)|histone methylation (GO:0016571)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of gene expression by genetic imprinting (GO:0006349)|regulation of histone H3-K4 methylation (GO:0051569)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone binding (GO:0042393)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|transcription regulatory region DNA binding (GO:0044212)	p.Q104*(1)		NS(1)|breast(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(9)|lung(28)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	58	Lung NSC(12;0.00132)|all_lung(29;0.00433)|Melanoma(10;0.242)		BRCA - Breast invasive adenocarcinoma(13;3.95e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.09e-07)			CCTTCTTGCTGCTGTATGCTC	0.597																																						uc010gix.1																			1	Substitution - Nonsense(1)		lung(1)	ovary(2)|large_intestine(1)|skin(1)	4						c.(310-312)CAG>TAG		CCCTC-binding factor-like protein							76.0	66.0	70.0					20																	56098952		2203	4298	6501	SO:0001587	stop_gained	140690				cell cycle|DNA methylation involved in gamete generation|histone methylation|positive regulation of transcription, DNA-dependent|regulation of gene expression by genetic imprinting|regulation of histone H3-K4 methylation|transcription, DNA-dependent	cytoplasm|nucleus	histone binding|sequence-specific DNA binding|transcription regulatory region DNA binding|zinc ion binding	g.chr20:56098952G>A		CCDS13459.1, CCDS58776.1, CCDS58777.1, CCDS58778.1, CCDS58779.1, CCDS58780.1, CCDS58781.1, CCDS58782.1, CCDS68161.1, CCDS68162.1, CCDS68163.1, CCDS68164.1	20q13.31	2013-01-08			ENSG00000124092	ENSG00000124092		"""Zinc fingers, C2H2-type"""	16234	protein-coding gene	gene with protein product	"""cancer/testis antigen 27"""	607022					Standard	NM_001269040		Approved	dJ579F20.2, BORIS, CT27	uc010giw.1	Q8NI51	OTTHUMG00000032829	ENST00000608263.1:c.310C>T	20.37:g.56098952G>A	ENSP00000476783:p.Gln104*					CTCFL_uc010giw.1_Nonsense_Mutation_p.Q104*|CTCFL_uc002xym.2_Nonsense_Mutation_p.Q104*|CTCFL_uc010giz.1_Intron|CTCFL_uc010giy.1_Intron|CTCFL_uc010gja.1_Nonsense_Mutation_p.Q104*|CTCFL_uc010gjb.1_Nonsense_Mutation_p.Q104*|CTCFL_uc010gjc.1_Nonsense_Mutation_p.Q104*|CTCFL_uc010gjd.1_Nonsense_Mutation_p.Q104*|CTCFL_uc010gje.2_Nonsense_Mutation_p.Q104*|CTCFL_uc010gjf.2_Intron|CTCFL_uc010gjg.2_Intron|CTCFL_uc010gjh.1_Nonsense_Mutation_p.Q104*|CTCFL_uc010gji.1_Intron|CTCFL_uc010gjj.1_Nonsense_Mutation_p.Q104*|CTCFL_uc010gjk.1_Nonsense_Mutation_p.Q104*|CTCFL_uc010gjl.1_Nonsense_Mutation_p.Q104*	p.Q104*	NM_080618	NP_542185	Q8NI51	CTCFL_HUMAN	BRCA - Breast invasive adenocarcinoma(13;3.95e-12)|Epithelial(14;3.41e-08)|all cancers(14;2.09e-07)		1	972	-	Lung NSC(12;0.00132)|all_lung(29;0.00433)|Melanoma(10;0.242)		104					A0S6W1|A1L4C6|A6XGL8|A6XGM2|A6XGM3|A6XGM8|A6XGN0|A6XGN1|A6XGN2|A6XGN3|A6XGN4|E7EQ27|E7EUE3|E9PBA9|Q5JUG4|Q9BZ30|Q9NQJ3	Nonsense_Mutation	SNP	ENST00000608263.1	37	c.310C>T	CCDS13459.1	.	.	.	.	.	.	.	.	.	.	G	40	8.209181	0.98706	.	.	ENSG00000124092	ENST00000423479;ENST00000243914;ENST00000371196;ENST00000429804;ENST00000433949;ENST00000422109;ENST00000426658;ENST00000432255;ENST00000422869	.	.	.	4.91	3.96	0.45880	.	1.611990	0.03599	N	0.233052	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.09590	T	0.72	-0.1256	10.1107	0.42561	0.0951:0.0:0.9049:0.0	.	.	.	.	X	104	.	ENSP00000243914:Q104X	Q	-	1	0	CTCFL	55532358	0.061000	0.20836	0.003000	0.11579	0.010000	0.07245	1.908000	0.39907	1.045000	0.40225	0.650000	0.86243	CAG		PASS	0.597	CTCFL-019	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000472040.1	NM_080618		34	158	34	158	---	---	---	---
ZNF831	128611	broad.mit.edu	37	20	57829371	57829371	+	Missense_Mutation	SNP	A	A	C			TCGA-34-2608-01A-02D-1522-08	TCGA-34-2608-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3c90209b-b6f6-40b2-a374-6cd37d6d3895	ca1f5f6f-bef8-49af-8bd0-c8beb0c4c53b	g.chr20:57829371A>C	ENST00000371030.2	+	5	4607	c.4607A>C	c.(4606-4608)gAg>gCg	p.E1536A		NM_178457.1	NP_848552.1	Q5JPB2	ZN831_HUMAN	zinc finger protein 831	1536							metal ion binding (GO:0046872)|nucleic acid binding (GO:0003676)	p.E1536A(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(15)|lung(71)|ovary(2)|pancreas(1)|prostate(4)|skin(16)|upper_aerodigestive_tract(2)|urinary_tract(3)	125	all_lung(29;0.0085)					GTCACAGAAGAGGGCAGAGCA	0.493																																						uc002yan.2																			1	Substitution - Missense(1)		lung(1)	skin(13)|ovary(1)	14						c.(4606-4608)GAG>GCG		zinc finger protein 831							39.0	43.0	41.0					20																	57829371		2059	4214	6273	SO:0001583	missense	128611					intracellular	nucleic acid binding|zinc ion binding	g.chr20:57829371A>C	AL121919	CCDS42894.1	20q13.32	2008-10-20	2008-03-25	2008-03-25	ENSG00000124203	ENSG00000124203			16167	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 174"""	C20orf174			Standard	NM_178457		Approved	dJ492J12.1	uc002yan.3	Q5JPB2	OTTHUMG00000032864	ENST00000371030.2:c.4607A>C	20.37:g.57829371A>C	ENSP00000360069:p.Glu1536Ala						p.E1536A	NM_178457	NP_848552	Q5JPB2	ZN831_HUMAN			5	4607	+	all_lung(29;0.0085)		1536					Q5TDR4|Q8TCP0	Missense_Mutation	SNP	ENST00000371030.2	37	c.4607A>C	CCDS42894.1	.	.	.	.	.	.	.	.	.	.	A	16.01	3.001482	0.54254	.	.	ENSG00000124203	ENST00000371030	T	0.05139	3.49	5.54	1.57	0.23409	.	0.635159	0.14429	N	0.320120	T	0.05868	0.0153	L	0.60455	1.87	0.09310	N	1	B	0.33549	0.417	B	0.26969	0.075	T	0.35076	-0.9803	10	0.72032	D	0.01	-9.3956	2.6901	0.05118	0.6193:0.1404:0.087:0.1533	.	1536	Q5JPB2	ZN831_HUMAN	A	1536	ENSP00000360069:E1536A	ENSP00000360069:E1536A	E	+	2	0	ZNF831	57262766	0.070000	0.21116	0.001000	0.08648	0.002000	0.02628	1.442000	0.35046	0.384000	0.24942	0.528000	0.53228	GAG		PASS	0.493	ZNF831-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000079916.2	NM_178457		15	45	15	45	---	---	---	---
ZBTB21	49854	broad.mit.edu	37	21	43412303	43412303	+	Silent	SNP	G	G	T			TCGA-34-2608-01A-02D-1522-08	TCGA-34-2608-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3c90209b-b6f6-40b2-a374-6cd37d6d3895	ca1f5f6f-bef8-49af-8bd0-c8beb0c4c53b	g.chr21:43412303G>T	ENST00000310826.5	-	3	2085	c.1902C>A	c.(1900-1902)gcC>gcA	p.A634A	ZBTB21_ENST00000398505.3_Intron|ZBTB21_ENST00000398499.1_Silent_p.A634A|ZBTB21_ENST00000465968.1_Intron|ZBTB21_ENST00000398511.3_Silent_p.A634A	NM_001098402.1	NP_001091872.1	Q9ULJ3	ZBT21_HUMAN	zinc finger and BTB domain containing 21	634					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|methyl-CpG binding (GO:0008327)	p.A634A(1)									TAATGATCAGGGCCTTCTTAA	0.453																																						uc002zab.3																			1	Substitution - coding silent(1)		lung(1)	ovary(1)|central_nervous_system(1)|skin(1)	3						c.(1900-1902)GCC>GCA		zinc finger protein 295 isoform L							70.0	72.0	71.0					21																	43412303		2203	4300	6503	SO:0001819	synonymous_variant	49854				negative regulation of transcription, DNA-dependent|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|nucleus	methyl-CpG binding|protein binding|zinc ion binding	g.chr21:43412303G>T	AB033053	CCDS13678.1, CCDS42934.1	21q22.3	2013-01-09	2013-01-09	2013-01-09	ENSG00000173276	ENSG00000173276		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	13083	protein-coding gene	gene with protein product			"""zinc finger protein 295"""	ZNF295			Standard	NM_020727		Approved	KIAA1227	uc002yzy.4	Q9ULJ3	OTTHUMG00000086789	ENST00000310826.5:c.1902C>A	21.37:g.43412303G>T						ZNF295_uc002yzz.3_Intron|ZNF295_uc002yzy.3_Silent_p.A634A|ZNF295_uc002zaa.3_Silent_p.A634A	p.A634A	NM_001098402	NP_001091872	Q9ULJ3	ZN295_HUMAN			3	2116	-			634					Q5R2W1|Q5R2W2|Q6P4R0	Silent	SNP	ENST00000310826.5	37	c.1902C>A	CCDS13678.1																																																																																				PASS	0.453	ZBTB21-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195308.1	NM_020727		13	173	13	173	---	---	---	---
UMODL1	89766	broad.mit.edu	37	21	43519180	43519180	+	Missense_Mutation	SNP	A	A	T	rs534055656		TCGA-34-2608-01A-02D-1522-08	TCGA-34-2608-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3c90209b-b6f6-40b2-a374-6cd37d6d3895	ca1f5f6f-bef8-49af-8bd0-c8beb0c4c53b	g.chr21:43519180A>T	ENST00000408910.2	+	7	1076	c.1076A>T	c.(1075-1077)cAg>cTg	p.Q359L	UMODL1_ENST00000400427.1_Missense_Mutation_p.Q287L|UMODL1_ENST00000408989.2_Missense_Mutation_p.Q359L|UMODL1_ENST00000400424.2_Missense_Mutation_p.Q287L	NM_001004416.2	NP_001004416	Q5DID0	UROL1_HUMAN	uromodulin-like 1	359	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adipose tissue development (GO:0060612)|cellular response to gonadotropin-releasing hormone (GO:0097211)|multicellular organismal reproductive process (GO:0048609)|regulation of apoptotic process (GO:0042981)|regulation of gene expression (GO:0010468)|regulation of ovarian follicle development (GO:2000354)|single fertilization (GO:0007338)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|peptidase inhibitor activity (GO:0030414)	p.Q359L(1)|p.Q287L(1)		breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(22)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	47						GCCAGGACACAGAGCCAGGCA	0.587																																					Pancreas(122;680 807 13940 14411 22888 25505 31742 36028 36332 38435)	uc002zaf.1																			2	Substitution - Missense(2)		lung(2)	ovary(2)|skin(1)	3						c.(1075-1077)CAG>CTG		uromodulin-like 1 isoform 1 precursor							57.0	64.0	62.0					21																	43519180		2072	4201	6273	SO:0001583	missense	89766					cytoplasm|extracellular region|integral to membrane|plasma membrane	calcium ion binding|peptidase inhibitor activity	g.chr21:43519180A>T		CCDS42935.1, CCDS42936.1, CCDS56214.1, CCDS56215.1	21q22.3	2008-07-04			ENSG00000177398	ENSG00000177398			12560	protein-coding gene	gene with protein product	"""olfactorin"""	613859				16026467	Standard	NM_173568		Approved		uc002zag.1	Q5DID0	OTTHUMG00000086788	ENST00000408910.2:c.1076A>T	21.37:g.43519180A>T	ENSP00000386147:p.Gln359Leu					UMODL1_uc002zad.1_Missense_Mutation_p.Q287L|UMODL1_uc002zae.1_Missense_Mutation_p.Q287L|UMODL1_uc002zag.1_Missense_Mutation_p.Q359L|UMODL1_uc010gow.1_Missense_Mutation_p.Q151L|UMODL1_uc002zai.1_Missense_Mutation_p.Q10L|UMODL1_uc010gox.1_RNA|UMODL1_uc010goy.1_Missense_Mutation_p.Q10L|UMODL1_uc002zaj.1_RNA|UMODL1_uc010goz.1_Missense_Mutation_p.Q104L	p.Q359L	NM_001004416	NP_001004416	Q5DID0	UROL1_HUMAN			7	1076	+			359			Extracellular (Potential).|Fibronectin type-III 1.		C9JCE6|Q5DIC9|Q6LA40|Q6LA41|Q8N216	Missense_Mutation	SNP	ENST00000408910.2	37	c.1076A>T	CCDS42936.1	.	.	.	.	.	.	.	.	.	.	A	0.236	-1.017384	0.02078	.	.	ENSG00000177398	ENST00000400427;ENST00000400424;ENST00000408989;ENST00000408910;ENST00000380462	T;T;T;T	0.52295	0.67;0.67;0.67;0.67	4.29	-8.58	0.00897	Fibronectin, type III (2);	3.675260	0.00979	N	0.003342	T	0.22551	0.0544	N	0.08118	0	0.09310	N	1	B;B;B	0.06786	0.0;0.001;0.0	B;B;B	0.13407	0.007;0.009;0.001	T	0.15723	-1.0427	10	0.29301	T	0.29	2.4356	4.5588	0.12151	0.4486:0.3505:0.1169:0.084	.	287;359;359	Q5DID0-3;Q5DID0-2;Q5DID0	.;.;UROL1_HUMAN	L	287;287;359;359;205	ENSP00000383279:Q287L;ENSP00000383276:Q287L;ENSP00000386126:Q359L;ENSP00000386147:Q359L	ENSP00000369829:Q205L	Q	+	2	0	UMODL1	42392249	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-3.177000	0.00570	-2.826000	0.00341	-0.993000	0.02533	CAG		PASS	0.587	UMODL1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195292.2			13	127	13	127	---	---	---	---
UMODL1	89766	broad.mit.edu	37	21	43522280	43522280	+	Silent	SNP	C	C	T			TCGA-34-2608-01A-02D-1522-08	TCGA-34-2608-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3c90209b-b6f6-40b2-a374-6cd37d6d3895	ca1f5f6f-bef8-49af-8bd0-c8beb0c4c53b	g.chr21:43522280C>T	ENST00000408910.2	+	8	1191	c.1191C>T	c.(1189-1191)gcC>gcT	p.A397A	UMODL1_ENST00000400427.1_Silent_p.A325A|UMODL1_ENST00000408989.2_Silent_p.A397A|UMODL1_ENST00000400424.2_Silent_p.A325A|C21orf128_ENST00000329015.2_3'UTR	NM_001004416.2	NP_001004416	Q5DID0	UROL1_HUMAN	uromodulin-like 1	397	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.|SEA 1. {ECO:0000255|PROSITE- ProRule:PRU00188}.				adipose tissue development (GO:0060612)|cellular response to gonadotropin-releasing hormone (GO:0097211)|multicellular organismal reproductive process (GO:0048609)|regulation of apoptotic process (GO:0042981)|regulation of gene expression (GO:0010468)|regulation of ovarian follicle development (GO:2000354)|single fertilization (GO:0007338)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|peptidase inhibitor activity (GO:0030414)	p.A397A(1)|p.A325A(1)		breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(5)|lung(22)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	47						TCTCAGATGCCCAGGTATTTG	0.428																																					Pancreas(122;680 807 13940 14411 22888 25505 31742 36028 36332 38435)	uc002zaf.1																			2	Substitution - coding silent(2)		lung(2)	ovary(2)|skin(1)	3						c.(1189-1191)GCC>GCT		uromodulin-like 1 isoform 1 precursor							81.0	79.0	80.0					21																	43522280		1886	4108	5994	SO:0001819	synonymous_variant	89766					cytoplasm|extracellular region|integral to membrane|plasma membrane	calcium ion binding|peptidase inhibitor activity	g.chr21:43522280C>T		CCDS42935.1, CCDS42936.1, CCDS56214.1, CCDS56215.1	21q22.3	2008-07-04			ENSG00000177398	ENSG00000177398			12560	protein-coding gene	gene with protein product	"""olfactorin"""	613859				16026467	Standard	NM_173568		Approved		uc002zag.1	Q5DID0	OTTHUMG00000086788	ENST00000408910.2:c.1191C>T	21.37:g.43522280C>T						UMODL1_uc002zad.1_Silent_p.A325A|UMODL1_uc002zae.1_Silent_p.A325A|UMODL1_uc002zag.1_Silent_p.A397A|UMODL1_uc010gow.1_Silent_p.A189A|UMODL1_uc002zai.1_Silent_p.A48A|UMODL1_uc010gox.1_RNA|UMODL1_uc010goy.1_Silent_p.A48A|UMODL1_uc002zaj.1_RNA|UMODL1_uc010goz.1_Silent_p.A142A|C21orf128_uc002zak.2_3'UTR	p.A397A	NM_001004416	NP_001004416	Q5DID0	UROL1_HUMAN			8	1191	+			397			Extracellular (Potential).|SEA 1.		C9JCE6|Q5DIC9|Q6LA40|Q6LA41|Q8N216	Silent	SNP	ENST00000408910.2	37	c.1191C>T	CCDS42936.1																																																																																				PASS	0.428	UMODL1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195292.2			9	93	9	93	---	---	---	---
SGSM1	129049	broad.mit.edu	37	22	25240894	25240894	+	Missense_Mutation	SNP	C	C	T			TCGA-34-2608-01A-02D-1522-08	TCGA-34-2608-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3c90209b-b6f6-40b2-a374-6cd37d6d3895	ca1f5f6f-bef8-49af-8bd0-c8beb0c4c53b	g.chr22:25240894C>T	ENST00000400359.4	+	3	101	c.94C>T	c.(94-96)Cgc>Tgc	p.R32C	SGSM1_ENST00000400358.4_Missense_Mutation_p.R32C	NM_001039948.2|NM_133454.2	NP_001035037.1|NP_597711.1	Q2NKQ1	SGSM1_HUMAN	small G protein signaling modulator 1	32						Golgi apparatus (GO:0005794)	Rab GTPase activator activity (GO:0005097)	p.R32C(2)		NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(14)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	41						GGCTGTGACACGCAAGTTTGT	0.567																																						uc003abg.2																			2	Substitution - Missense(2)	p.R32H(1)	lung(2)	ovary(2)|central_nervous_system(2)|pancreas(1)	5						c.(94-96)CGC>TGC		RUN and TBC1 domain containing 2 isoform 1							97.0	105.0	102.0					22																	25240894		2190	4299	6489	SO:0001583	missense	129049					Golgi apparatus	Rab GTPase activator activity	g.chr22:25240894C>T	AB075821	CCDS46674.1, CCDS46675.1, CCDS74834.1	22q11.23	2013-07-09	2007-08-14	2007-08-14	ENSG00000167037	ENSG00000167037		"""Small G protein signaling modulators"""	29410	protein-coding gene	gene with protein product		611417	"""RUN and TBC1 domain containing 2"""	RUTBC2		11853319, 17509819, 22637480	Standard	NM_133454		Approved	KIAA1941	uc003abg.2	Q2NKQ1	OTTHUMG00000150837	ENST00000400359.4:c.94C>T	22.37:g.25240894C>T	ENSP00000383212:p.Arg32Cys					SGSM1_uc003abh.2_Missense_Mutation_p.R32C|SGSM1_uc010guu.1_Missense_Mutation_p.R32C|SGSM1_uc003abj.2_Missense_Mutation_p.R32C|SGSM1_uc003abi.1_Missense_Mutation_p.R7C|SGSM1_uc003abf.2_Missense_Mutation_p.R32C	p.R32C	NM_001039948	NP_001035037	Q2NKQ1	SGSM1_HUMAN			3	251	+			32					A5LGW1|A8MUT4|B0QYW0|B0QYW1|B5MEG1|B9A6J4|Q5TFL3|Q8TF60	Missense_Mutation	SNP	ENST00000400359.4	37	c.94C>T	CCDS46674.1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.222686	0.79464	.	.	ENSG00000167037	ENST00000403206;ENST00000400358;ENST00000400359	T;T	0.11930	2.73;2.73	5.34	3.08	0.35506	.	0.000000	0.85682	D	0.000000	T	0.30230	0.0758	L	0.54323	1.7	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.87578	0.998;0.996;0.998;0.993;0.99	T	0.04373	-1.0956	10	0.87932	D	0	-0.5464	12.0551	0.53529	0.4858:0.5142:0.0:0.0	.	32;7;7;32;7	Q2NKQ1-4;C9J7S8;Q2NKQ1-3;Q2NKQ1;B9A6J4	.;.;.;SGSM1_HUMAN;.	C	7;32;32	ENSP00000383211:R32C;ENSP00000383212:R32C	ENSP00000383211:R32C	R	+	1	0	SGSM1	23570894	0.973000	0.33851	0.887000	0.34795	0.966000	0.64601	2.462000	0.45049	1.376000	0.46267	0.655000	0.94253	CGC		PASS	0.567	SGSM1-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000320282.1	XM_059318		7	67	7	67	---	---	---	---
TOM1	10043	broad.mit.edu	37	22	35741772	35741772	+	Missense_Mutation	SNP	G	G	T			TCGA-34-2608-01A-02D-1522-08	TCGA-34-2608-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3c90209b-b6f6-40b2-a374-6cd37d6d3895	ca1f5f6f-bef8-49af-8bd0-c8beb0c4c53b	g.chr22:35741772G>T	ENST00000449058.2	+	13	1404	c.1279G>T	c.(1279-1281)Gac>Tac	p.D427Y	TOM1_ENST00000382034.5_3'UTR|TOM1_ENST00000411850.1_Missense_Mutation_p.D427Y|TOM1_ENST00000425375.1_Missense_Mutation_p.D382Y|TOM1_ENST00000436462.2_Missense_Mutation_p.D389Y|TOM1_ENST00000447733.1_Missense_Mutation_p.D394Y	NM_005488.2	NP_005479.1	O60784	TOM1_HUMAN	target of myb1 (chicken)	427					endocytosis (GO:0006897)|endosomal transport (GO:0016197)|intracellular protein transport (GO:0006886)|protein transport (GO:0015031)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	clathrin binding (GO:0030276)	p.D427Y(1)		NS(1)|breast(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(3)|prostate(2)	19						GCTGTCCACTGACGTGGTATG	0.572																																						uc003ann.2																			1	Substitution - Missense(1)		lung(1)	ovary(1)	1						c.(1279-1281)GAC>TAC		target of myb1 isoform 1							144.0	104.0	118.0					22																	35741772		2203	4300	6503	SO:0001583	missense	10043				endocytosis|endosome transport|intracellular protein transport	cytosol|early endosome|membrane	protein binding	g.chr22:35741772G>T	AJ006973	CCDS13913.1, CCDS46696.1, CCDS46697.1, CCDS46698.1	22q13.1	2011-01-31	2001-11-28		ENSG00000100284	ENSG00000100284			11982	protein-coding gene	gene with protein product		604700	"""target of myb1 (chicken) homolog"""			10329004, 15047686	Standard	NM_005488		Approved		uc003anp.3	O60784	OTTHUMG00000150958	ENST00000449058.2:c.1279G>T	22.37:g.35741772G>T	ENSP00000394466:p.Asp427Tyr					TOM1_uc011ami.1_Missense_Mutation_p.D394Y|TOM1_uc011amj.1_Missense_Mutation_p.D270Y|TOM1_uc003ans.2_Missense_Mutation_p.D270Y|TOM1_uc011amk.1_Missense_Mutation_p.D389Y|TOM1_uc003anp.2_Missense_Mutation_p.D427Y|TOM1_uc011aml.1_Missense_Mutation_p.D382Y|TOM1_uc003ano.2_RNA|TOM1_uc003anq.2_Missense_Mutation_p.D421Y|TOM1_uc003anr.2_Missense_Mutation_p.D270Y	p.D427Y	NM_005488	NP_005479	O60784	TOM1_HUMAN			13	1404	+			427					B4DEL9|B4DNA1|Q5TIJ6|Q86X74	Missense_Mutation	SNP	ENST00000449058.2	37	c.1279G>T	CCDS13913.1	.	.	.	.	.	.	.	.	.	.	G	18.03	3.533451	0.64972	.	.	ENSG00000100284	ENST00000447733;ENST00000449058;ENST00000411850;ENST00000425375;ENST00000412456;ENST00000451197;ENST00000436462	T;T;T;T;T	0.27256	1.7;1.75;1.7;1.68;1.69	4.71	4.71	0.59529	.	1.213960	0.05966	N	0.641407	T	0.56848	0.2013	M	0.79475	2.455	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.91635	0.999;0.999;0.998;0.999;0.994	T	0.26189	-1.0110	10	0.49607	T	0.09	-26.0411	14.571	0.68210	0.0:0.0:1.0:0.0	.	382;389;436;427;427	O60784-3;E7EPD0;B4DKQ5;O60784-2;O60784	.;.;.;.;TOM1_HUMAN	Y	394;427;427;382;164;436;389	ENSP00000398876:D394Y;ENSP00000394466:D427Y;ENSP00000413697:D427Y;ENSP00000394924:D382Y;ENSP00000402556:D389Y	ENSP00000413697:D427Y	D	+	1	0	TOM1	34071772	1.000000	0.71417	0.570000	0.28473	0.837000	0.47467	6.787000	0.75099	2.171000	0.68590	0.462000	0.41574	GAC		PASS	0.572	TOM1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000320641.1	NM_005488		16	91	16	91	---	---	---	---
IL3RA	3563	broad.mit.edu	37	X	1464294	1464294	+	Silent	SNP	C	C	T			TCGA-34-2608-01A-02D-1522-08	TCGA-34-2608-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3c90209b-b6f6-40b2-a374-6cd37d6d3895	ca1f5f6f-bef8-49af-8bd0-c8beb0c4c53b	g.chrX:1464294C>T	ENST00000331035.4	+	3	499	c.150C>T	c.(148-150)atC>atT	p.I50I	IL3RA_ENST00000381469.2_Intron	NM_001267713.1|NM_002183.3	NP_001254642.1|NP_002174.1	P26951	IL3RA_HUMAN	interleukin 3 receptor, alpha (low affinity)	50					cellular response to interleukin-3 (GO:0036016)|interleukin-3-mediated signaling pathway (GO:0038156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	interleukin-3 receptor activity (GO:0004912)	p.I50I(1)		lung(1)|skin(2)	3		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Sargramostim(DB00020)	TGACCGATATCGAGTGTGTTA	0.353																																						uc004cps.2																			1	Substitution - coding silent(1)		lung(1)	skin(2)|lung(1)	3						c.(148-150)ATC>ATT		interleukin 3 receptor, alpha precursor	Sargramostim(DB00020)						292.0	274.0	280.0					X																	1464294		2200	4296	6496	SO:0001819	synonymous_variant	3563					integral to membrane|plasma membrane	interleukin-3 receptor activity	g.chrX:1464294C>T	M74782	CCDS14113.1, CCDS59158.1	Xp22.3 and Yp13.3	2008-07-21			ENSG00000185291	ENSG00000185291		"""Pseudoautosomal regions / PAR1"", ""Interleukins and interleukin receptors"", ""CD molecules"""	6012	protein-coding gene	gene with protein product		308385, 430000				1833064	Standard	NM_002183		Approved	CD123	uc004cps.3	P26951	OTTHUMG00000021059	ENST00000331035.4:c.150C>T	X.37:g.1464294C>T						IL3RA_uc011mhd.1_Intron	p.I50I	NM_002183	NP_002174	P26951	IL3RA_HUMAN			3	499	+		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)	50			Extracellular (Potential).		A8K3F3|B9VI81|Q5HYQ7|Q5HYQ8|Q9UEH7	Silent	SNP	ENST00000331035.4	37	c.150C>T	CCDS14113.1																																																																																				PASS	0.353	IL3RA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055600.3			20	317	20	317	---	---	---	---
KDM5C	8242	broad.mit.edu	37	X	53241055	53241055	+	Missense_Mutation	SNP	C	C	G			TCGA-34-2608-01A-02D-1522-08	TCGA-34-2608-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3c90209b-b6f6-40b2-a374-6cd37d6d3895	ca1f5f6f-bef8-49af-8bd0-c8beb0c4c53b	g.chrX:53241055C>G	ENST00000375401.3	-	9	1688	c.1156G>C	c.(1156-1158)Gag>Cag	p.E386Q	KDM5C_ENST00000404049.3_Missense_Mutation_p.E385Q|KDM5C-IT1_ENST00000412242.1_RNA|KDM5C_ENST00000375383.3_Missense_Mutation_p.E345Q|KDM5C_ENST00000452825.3_Missense_Mutation_p.E319Q|KDM5C_ENST00000465402.1_5'Flank|KDM5C_ENST00000375379.3_Missense_Mutation_p.E386Q	NM_001282622.1|NM_004187.3	NP_001269551.1|NP_004178.2	P41229	KDM5C_HUMAN	lysine (K)-specific demethylase 5C	386					histone H3-K4 demethylation (GO:0034720)|negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone demethylase activity (H3-K4 specific) (GO:0032453)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|zinc ion binding (GO:0008270)	p.E319Q(1)|p.E386Q(1)		autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(30)|large_intestine(9)|lung(17)|oesophagus(1)|ovary(6)|prostate(1)|salivary_gland(1)|skin(1)|upper_aerodigestive_tract(2)	82						GTAGCCTGCTCAAAGCCAAAG	0.522			"""N, F, S"""		clear cell renal carcinoma																																	uc004drz.2				Rec	yes		X	Xp11.22-p11.21	8242	N|F|S	lysine (K)-specific demethylase 5C (JARID1C)			E			clear cell renal carcinoma		2	Substitution - Missense(2)		lung(2)	kidney(9)|ovary(5)|salivary_gland(1)|autonomic_ganglia(1)|haematopoietic_and_lymphoid_tissue(1)|oesophagus(1)	18						c.(1156-1158)GAG>CAG		jumonji, AT rich interactive domain 1C isoform							52.0	46.0	48.0					X																	53241055		2203	4299	6502	SO:0001583	missense	8242				chromatin modification|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|protein binding|zinc ion binding	g.chrX:53241055C>G	Z29650	CCDS14351.1, CCDS55417.1, CCDS65269.1	Xp11.22-p11.21	2014-01-31	2009-04-06	2009-04-06	ENSG00000126012	ENSG00000126012		"""Chromatin-modifying enzymes / K-demethylases"", ""Zinc fingers, PHD-type"""	11114	protein-coding gene	gene with protein product		314690	"""Jumonji, AT rich interactive domain 1C (RBP2-like)"", ""Smcy homolog, X-linked (mouse)"", ""jumonji, AT rich interactive domain 1C"", ""mental retardation, X-linked 13"""	SMCX, JARID1C, MRX13		7951230, 8162017, 19826449	Standard	NM_004187		Approved	DXS1272E, XE169	uc004drz.3	P41229	OTTHUMG00000021606	ENST00000375401.3:c.1156G>C	X.37:g.53241055C>G	ENSP00000364550:p.Glu386Gln					KDM5C_uc011moc.1_RNA|KDM5C_uc011mod.1_Missense_Mutation_p.E319Q|KDM5C_uc004dsa.2_Missense_Mutation_p.E385Q	p.E386Q	NM_004187	NP_004178	P41229	KDM5C_HUMAN			9	1689	-			386					B0QZ44|B4E3I2|F5H3T1|Q5JUX3|Q5JUX4|Q5JUX5|Q7Z5S5	Missense_Mutation	SNP	ENST00000375401.3	37	c.1156G>C	CCDS14351.1	.	.	.	.	.	.	.	.	.	.	C	24.5	4.535250	0.85812	.	.	ENSG00000126012	ENST00000452825;ENST00000375401;ENST00000404049;ENST00000375379;ENST00000375383	T;T;T;T;T	0.71934	-0.61;-0.61;-0.61;-0.61;-0.61	5.85	5.85	0.93711	.	0.000000	0.85682	D	0.000000	D	0.84515	0.5489	M	0.78801	2.425	0.58432	D	0.999997	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.999	D	0.86232	0.1638	10	0.87932	D	0	-23.231	16.372	0.83365	0.0:1.0:0.0:0.0	.	319;385;386	F5H3T1;B0QZ44;P41229	.;.;KDM5C_HUMAN	Q	319;386;385;386;345	ENSP00000445176:E319Q;ENSP00000364550:E386Q;ENSP00000385394:E385Q;ENSP00000364528:E386Q;ENSP00000364532:E345Q	ENSP00000364528:E386Q	E	-	1	0	KDM5C	53257780	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.792000	0.85828	2.471000	0.83476	0.529000	0.55759	GAG		PASS	0.522	KDM5C-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000056737.2	NM_004187		7	23	7	23	---	---	---	---
TRPC5	7224	broad.mit.edu	37	X	111078161	111078161	+	Silent	SNP	A	A	G			TCGA-34-2608-01A-02D-1522-08	TCGA-34-2608-11A-01D-1522-08								Untested	Somatic	Phase_I	Capture	none			Illumina GAIIx	3c90209b-b6f6-40b2-a374-6cd37d6d3895	ca1f5f6f-bef8-49af-8bd0-c8beb0c4c53b	g.chrX:111078161A>G	ENST00000262839.2	-	7	2802	c.1884T>C	c.(1882-1884)taT>taC	p.Y628Y		NM_012471.2	NP_036603.1	Q9UL62	TRPC5_HUMAN	transient receptor potential cation channel, subfamily C, member 5	628					axon guidance (GO:0007411)|calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|ion transmembrane transport (GO:0034220)|nervous system development (GO:0007399)|transmembrane transport (GO:0055085)	calcium channel complex (GO:0034704)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	calcium channel activity (GO:0005262)|inositol 1,4,5 trisphosphate binding (GO:0070679)|store-operated calcium channel activity (GO:0015279)	p.Y628Y(1)		biliary_tract(1)|breast(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(38)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	62						CAATAAGCTGATAGGAGTTGT	0.433																																						uc004epl.1																			1	Substitution - coding silent(1)		lung(1)	urinary_tract(1)	1						c.(1882-1884)TAT>TAC		transient receptor potential cation channel,							235.0	184.0	201.0					X																	111078161		2203	4300	6503	SO:0001819	synonymous_variant	7224				axon guidance	calcium channel complex|integral to plasma membrane	protein binding|store-operated calcium channel activity	g.chrX:111078161A>G	AF054568	CCDS14561.1	Xq23	2014-06-13			ENSG00000072315	ENSG00000072315		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	12337	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 159"""	300334				10493832, 16382100	Standard	NM_012471		Approved	PPP1R159	uc004epl.1	Q9UL62	OTTHUMG00000022212	ENST00000262839.2:c.1884T>C	X.37:g.111078161A>G						TRPC5_uc004epm.1_Silent_p.Y628Y	p.Y628Y	NM_012471	NP_036603	Q9UL62	TRPC5_HUMAN			7	2803	-			628			Cytoplasmic (Potential).		B2RP53|O75233|Q5JXY8|Q9Y514	Silent	SNP	ENST00000262839.2	37	c.1884T>C	CCDS14561.1																																																																																				PASS	0.433	TRPC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057945.1	NM_012471		71	197	71	197	---	---	---	---
